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A 16-year-old male patient was referred to the urology department for evaluation of bilateral cryptorchidism. Physical examination demonstrated normal secondary sexual characters. Local scrotal examination showed empty scrotal sacs with oval soft tissue structure felt in the right groin, which was possibly inguinal testis. Ultrasound examination was initially done on GE Voluson E8 using 3.5 and 7 mHzconvex and linear probes revealed an oval-shaped testis-like structure in the right groin with normal testicular echotexture and vascularity and non-visualized left testis. Ultrasound abdomen showed few splenunculi in the lefthypochondrium and lumbar region and another oval-shaped mass with internal vascularity in left lumbar region. A diagnosis of intraabdominal testis was offered according to the sonography findings. Contrast-enhanced computed tomography (CECT) abdomen was advised for further assessment.\nCT abdomen was done on GE discovery CT 750 HD 64 Slice that showed an oval hypodense lesion in the right medial inguinal region, possibly an inguinal testis in correlation with clinical examination and ultrasound findings. A well-defined oval hypodense soft lesion with two components of differential enhancement was seen in the left lumbar and iliac fossa region. Inferior soft tissue component was relatively small and showed less enhancement, with its enhancement pattern similar to the right inguinal testis with draining left testicular vein, which was seen to be emptying into the left retroaortic renal vein []. The superior soft tissue component demonstrated homogenous enhancement, matching with the enhancement pattern of splenic parenchyma. Further analysis showed another vascular pedicle extending superiorly from this component and reaching up to the splenic hilum with multiple splenunculi seen along the course of these vessels []. Imaging findings suggested fusion of testis or a gonadal remnant, with splenunculus forming a conglomerate mass which resulted in cryptoorchidism on the left side. Features were suggestiveof splenogondal fusion with no continuous band of connecting splenic parenchyma. The patient was managed surgically. Pre-anesthetic evaluation revealed significantly enlarged adenoids and tonsils with compromised airway; and hence, additional adenotonsillectomy was contemplated with the help of an ENT surgeon. Intraoperative finding showed a large pinkish mass with vascular pedicle in the left lumbar and iliac region which was resected []. Multiple splenuncli were also found. Right inguinal testis was managed by laparoscopic Stephen-Fowler stage procedure by high ligation of testicular artery. No evidence of fibrous cord or band of splenic parenchyma was seen between theleft lumbar mass and spleen intraoperatively. Histopathological examination of the resected mass showed testicular tissue with seminiferous tubules with sertoli cells and occasional germ cells, and adjacent to testicular tissue splenicparenchyma tissue with congestion was found. Small adrenal rest was also found. No evidence of malignancy was seen. |
A 36-year-old pregnant gravida 4 parity 1 woman at 38 weeks of gestation presented to the obstetrics clinic with right upper quadrant pain, uterine cramps, and headache. Obstetric history revealed that she had no definite follow-up or antenatal visits regarding her pregnancy. She only reported a formal clinical examination at 20 weeks of pregnancy in another clinic in which she had a pelvic examination and was told that she was progressing normally. She had a healthy term delivery 14 years ago in which Cesarean section (C/S) was employed due to fetal stress. She also revealed that two years ago she presented to the gastroenterology clinic of another medical facility due to repeated episodes of abdominal pain. The woman had been told that she had a disease involving the liver and the biliary system but she was incompliant and did not pursue her follow-up appointments because she felt better.\nHer physical examination revealed a high arterial blood pressure (160/100 mm Hg) but her other vital signs were normal. No cervical dilatation or effacement was noted in the obstetric examination; however, she had edema and abdominal distention. Uterine tocography showed regular uterine contractions. Laboratory studies showed proteinuria (+1 by stick); biochemistry showed mild to moderate anemia (Hb: 10,3 g/dL), thrombocytopenia (64.5 K/uL), and hypoalbuminemia (2.6 mg/dL). The results of the renal and liver function tests were within normal limits. She was diagnosed with preeclampsia and was started on magnesium sulfate treatment. A crossmatch was undertaken and arrangements were made for prospective blood transfusions. An emergent C/S delivery under general anesthesia was carried out and a 2700 g healthy male infant with Apgar scores of 8 and 9 at 1 min, and 5 min, respectively was delivered.\nThree liters of serous ascites was noted within the abdomen during C/S. Bleeding in the form of oozing from suture sites was detected during uterine closure. Hemostasis was maintained by additional sutures. After ascertaining that the uterine tonus was good; the abdomen was closed and a drainage catheter was left in place. Venous oozing was seen at the site of skin sutures as well. The patient was admitted to the intensive care unit for surveillance in case HELLP syndrome or disseminated intravascular coagulation (DIC) syndrome developed. During the postoperative followup the patient had 30 cc/hour continuous serohemorrhagic oozing from the abdominal drain. The patient was transfused with 1 unit of erythrocyte and the hemograms were stable. The oozing became serous during the second postoperative day and gradually decreased. Her vital signs were stable, but she had thrombocytopenia, anemia, and lymphopenia. On the 3rd postoperative day, the patient developed severe abdominal pain, abdominal distention, and fever. The drain catheter started to discharge ascites. A gastroenterology consultation was requested to determine the ascites etiology. Empirical intravenous (IV) antibiotics (cefoperazone-sulbactam) were started for possible peritonitis. The endoscopic examination revealed grade 2 esophageal varices and portal gastropathy. The patient's previous medical records were requested from the other medical facility and they showed that she had suffered from acute PVT 2 years ago. The ultrasound examination of the abdomen showed widespread ascites within the abdominal cavity, chronic portal vein thrombosis and cavernous transformation, splenomegaly, and gallbladder sludge (). Thrombotic risk profile was negative for factor V Leiden, prothrombin gene G20210A, hyperhomocysteinemia, antithrombin III deficiency, protein C or S deficiency, and antiphospholipid antibodies. Anticoagulation therapy (enoxaparin 6000 anti-Xa IU/0.6 mL/day), diuretics, sodium restriction, and propranolol (a nonselective beta-blocker) were started. The pain gradually disappeared by the third day of treatment and the ascites were under control on the 7th day of treatment. The patient was referred to the gastroenterology clinic for further follow-up and treatment. |
We are reporting a 62-year-old Caucasian male with a history of resected benign parotid gland tumor on 1985. After 22 years of resection, he presented with right kidney mass which was suspicious for renal cell carcinoma. He underwent right nephrectomy with a pathological diagnosis of renal cell carcinoma of unclassified histology. Afterward, the patient was enrolled in the adjuvant Econ 2805 study in the placebo arm; subsequently, he relapsed with retroperitoneal lymphadenopathy. Following this, the patient was started on sunitinib therapy, a receptor tyrosine kinase inhibitor, in 2009 for metastatic renal cell carcinoma, though patient's tumor continued to progress. He was sent to be evaluated for a phase-I trial; during the evaluation, multiple pathologists evaluated his renal tumor histopathology studies and core biopsies of the salivary gland resection were compared to his nephrectomy ones. They concluded that the renal tumor is a metastasis from the salivary gland carcinoma with adenocarcinoma features.\nSubsequently, the patient developed severe right upper quadrant abdominal pain. Follow-up diagnostic studies with positron emission tomography (PET) scan showed disease progression with multiple bilateral hepatic lesions and retroperitoneal lymphadenopathy [], with elevated liver enzymes. The tumor was tested for Her2/neu, which was strongly positive, +3 by IHC. Then, the patient was started on weekly trastuzumab (4 mg/kg loading dose, then 2 mg/kg maintenance) and paclitaxel 80 mg/m2.[]\nThe abdominal pain he was having and the elevated liver enzymes resolved after the first dose of trastuzumab and paclitaxel. After 6 weeks of treatment, diagnostic studies of the abdomen showed decreased size of the metastatic disease in the liver and retroperitoneal lymph nodes. The patient was continued on a maintenance weekly trastuzumab. Three months later, repeated scanning showed continuous response to therapy. Follow-up PET-scanning 1 year later revealed complete resolution of the previously seen liver lesions []. To date, the patient is alive, stable, and receiving weekly Trastuzumab. |
A 36-year-old woman visited our institute for the treatment of newly diagnosed left breast cancer. She had a palpable lump for a month. A mammogram showed fine pleomorphic microcalcifications with segmental distribution in the left upper inner breast (). No microcalcifications were observed in the left upper outer quadrant. Masses could not be detected on the mammogram because of the extremely dense fibroglandular breast tissue. A sonogram revealed multiple, irregular, hypoechoic infiltrative masses involving the upper inner and upper outer quadrants of the left breast (). Contrast-enhanced magnetic resonance imaging (MRI) of the breast showed multicentric, nonmass enhancement lesions with segmental distribution and a heterogeneous internal enhancement pattern involving nearly all of the left upper inner and outer quadrants of the left breast (). The largest lesion was 6 cm in diameter and 1 cm away from the nipple. The tumors initially showed rapid enhancement and delayed washout kinetics on dynamic MRI scans, which is typical of malignancy. No abnormal lymph node was detected on mammograms and sonograms. However, an abnormal lymph node with a maximum standard uptake value of 2.6 was noted on initial positron emission tomography-computed tomography (PET-CT). The stage was clinically assessed as T3N1M0.\nThe patient underwent four cycles of neoadjuvant chemotherapy with doxorubicin (60 mg/m2 intravenous injection) on day 1 plus cyclophosphamide (600 mg/m2 intravenous injection) on day 1, every 21 days, for 3 months. Follow-up imaging studies were performed and her mammograms revealed a marked increase in fine pleomorphic microcalcifications with regional distribution in both upper inner and upper outer quadrants of the left breast (). However, a follow-up breast sonogram and MRI scan ( and ) showed partial regression of the size and extent of multifocal and multicentric tumors. An abnormal lymph node observed on initial PET-CT was normalized on follow-up PET-CT after completion of one cycle of neoadjuvant chemotherapy. The patient underwent a skin-sparing mastectomy with implant insertion. A histopathological examination revealed that most of the residual lesions were DCIS with microcalcifications, and invasive carcinoma cell nests were scattered among the DCIS lesions. On dissection of the axillary lymph node, we found that three of 10 lymph nodes from the left axilla had metastatic foci less than 1 mm in a diameter. The postoperative stage was ypT1N1miM0. Immunohistochemical analyses of the core biopsy specimen prior to neoadjuvant chemotherapy showed that both invasive ductal carcinoma and DCIS were estrogen receptor (ER) positive, progesterone receptor (PR) positive, and human epidermal growth factor receptor 2 (HER2) negative, and had a high Ki-67 labeling index (75%) (). After chemotherapy, the surgical specimen of invasive ductal carcinoma was ER positive, PR positive, and HER2 negative and had a low Ki-67 index (5%–10%), while the DCIS was ER positive, PR negative, and HER2 positive and had a low Ki-67 index (5%–10%) (). |
A 15 month-old girl was referred to the emergency room of our institution because of the appearance of a progressively increasing right painless parasternal swelling.\nThe girl had been admitted 2 weeks before in a hospital in Romania where chest wall ultrasonography (US), chest X-ray and chest computed tomography (CT) scan had been performed (Figure ). The US study revealed a well circumscribed, 25 mm per 9 mm in size, hypoechoic collection adherent to the cartilagean rib. Chest x-ray showed enlargement of hilar lymph nodes and right lung consolidation. Chest CT scan showed parenchymal consolidation with area of calcification in the right lower lobe, bilateral area of atelectasis, mediastinal and hilar lymph node enlargement, a patchy hypoechoic mass adjacent to the 10th right cartilagean rib. Because of the association of chest wall swelling and lung lesion, a tumor was suspected and a bone marrow aspirate was performed, which ruled out neoplastic infiltration. A surgical management of both bone and parenchymal lesions was proposed by doctors, but parents refused and sought care at our hospital.\nOn examination at our institution, the child had no fever, presented a cold, bluish, painless, right parasternal swelling (Figure ). The physical examination was otherwise normal.\nA detailed medical history was taken. The child had had two episodes of pneumonia when was 5 and 7 month-old, which were treated and cured with antibiotics and steroids. Family history was negative for neoplastic disease, but was positive for three cases of active TB. The child did not receive bacillus Calmette-Guérin vaccine at birth because it was not available. A new chest wall US study (Figure ) showed a well circumscribed, 25 mm per 12 mm in size, hypoechoic collection with peripheral area of hypervascularization adjacent to the cartilagean rib. The child was admitted at the Pediatric Infectious Disease Unit of our hospital.\nInvestigations revealed normal hemogram, liver and renal function tests, blood sugar and urinalysis, low levels of serum 25-OH-D (< 7 ng/ml) with normal calcium, phosphorus, PTH and alkaline phosphatasis level, normal serum protein electrophoresis, negative serology for human immunodeficiency virus. QuantiFERON TB Gold In Tube test (QTF) resulted positive (> 10 IU/l) and tuberculin skin test (TST) showed a 15 mm induration at 48 hours. Even though the use of QTF test in children is still unclear, we performed it since we are currently performing a correlation study between QTF and TST in children; nevertheless, in our case QTF result was only one of a number of elements (history, clinical and radiologic findings and TST result) which let us suspect a TB aetiology. Early morning gastric aspirates performed on three consecutive days were negative for acid-fast bacilli, but both Polymerase Chain Reaction (PCR) and culture for Mtb were positive. A surgical debridement of the lesion was performed. Hystopathologic studies revealed a predominantly lymphomononuclear infiltrate with epithelioid cells and Langhans giant cells (Figure ). PCR and culture for Mtb were positive on pus and tissue smears. A diagnosis of chest wall and pulmonary TB was performed, antituberculous therapy (isoniazid, rifampin and pyrazinamide) was started and vitamin D was replaced with ergocalciferol 4000 IU daily, both for one year. During treatment, the patient had no adverse drug reactions and experienced no disease recurrence (based on clinical evaluation with detailed auxological evaluation and chest x-Ray studies - preferred to CT studies because of lower radiation burden, which showed resolution of pulmonary involvement and only a residual scar related to the surgery) at one year follow-up. |
A 55-year-old female patient presented in the Department of Oral and Maxillofacial Surgery, Punjab Government Dental College and Hospital, Amritsar complaining of swelling in the back region of right cheek. The history dates back to 4 months when patient felt a small, asymptomatic swelling in back region of right cheek which was spontaneous with no history of trauma or functional impairment, which gradually increased in size. Patient got extracted her two right upper posterior teeth from some private practitioner and was on antibiotic and anti-inflammatory medication, but got no relief. Therefore, patient was referred in our institution for diagnosis and management.\nOn extraoral examination, there was no obvious facial asymmetry or swelling evident, no cervical lymph node was palpable. Intraoral examination revealed an outgrowth involving buccal mucosa of right posterior region extending up to the right maxillary tuberosity region. Outgrowth was approximately 3.0 × 1.5 cm in size, cylindrical in shape, sessile, pink in color, smooth in surface with few bosselated areas secondary to occlusal trauma []. On palpation, temperature of growth was not raised, firm in consistency, nontender, ill-defined margins with fixation to underlying structure. No sign of fluctuation was evident. Extraoral radiography showed no bony involvement. Magnetic resonance imaging of face and neck was performed, showed well-defined mass measured 2.2 × 1.3 × 1.0 cm in size on right side of buccal mucosa lying anterior to the masseter muscle and lateral to the buccinator muscle [].\nPatient was advised fine-needle aspiration cytology (FNAC) of the lesion. FNAC report was suggestive of pleomorphic adenoma with epithelial predominance. No mitotic activity was seen, suggested for histopathological examination to further evaluate. Basal cell adenoma, solid variant of adenoid cystic or mucoepidermoid tumor were also kept in differential diagnosis.\nBased on the clinical presentation and FNAC report diagnosis of pleomorphic adenoma of right buccal mucosa was made with a differential diagnosis of adenoma, solid variant of adenoid cystic and mucoepidermoid tumor. The wide excision of the lesion was performed under local anesthesia and wound was covered with a biodegradable collagen membrane dressing []. The specimen [] was fixed in formalin and sent for histopathological examination. Microscopic examination showed a malignant tumor mostly composed of cells arranged in nests and lobules, separated by thin fibrovascular septae in a background of fibromyxoid stroma. The tumor cells had clear to pale eosinophilic cytoplasm, pleomorphic nuclei with prominent nucleoli and brisk mitoses [Figure –]. Hyaline basal laminar material was also seen at places. Occasional squamous islands and comedo-type necrosis were also noted. The tumor infiltrated into adjacent muscle. Immunohistochemical reactions were carried out and positive reactions obtained for pan-cytokeratin [], vimentin [], p63 [] and S-100 []. The Ki-67 [] index was high (>10%). On the basis of histopathological and immunohistochemical results it was diagnosed as myoepithelial carcinoma of buccal mucosa.\nAs the wide local resection of the lesion had already been performed, no further treatment was done except a chest radiograph, to rule out any distant metastasis, which was reported as normal. Patient was kept on regular follow-up. Patient remained free of disease for 15 months and still on follow-up []. |
A 67-year-old male patient presented with a protruding suprapubic mass in the upper margin of his pubic hair. The lesion had started as a small nodule 1.5 years before, and the punch biopsy performed 2 weeks before his presentation led to a diagnosis of sebaceous epithelioma. He had undergone cadaveric donor liver transplantation 6 years before for hepatocellular carcinoma and liver cirrhosis owing to type C hepatitis. He was receiving oral tacrolimus as an outpatient.\nOn physical examination, a round, protruding sessile mass with a 3-cm diameter was observed at the cranial region of the pubic hair. The mass was pinkish with uneven purplish areas and ulcerated on its right upper surface. It was well circumscribed, rubbery, and movable, with the base easily palpable deep in the skin. The patient did not report any pain. No tenderness or signs of surrounding infection were noted ().\nComputed tomography of the pelvic area revealed an oval fat-containing skin nodule measuring 2 cm in diameter, in the left lower abdominal wall (). The patient refused magnetic resonance imaging because of cost issues.\nThe excision was performed with the patient in supine position, as an elliptical incision line with a horizontal axis distanced at the closest 5-mm margin from the mass to prevent dog-ear deformity when excising along the suprapubic area. Full-thickness skin incision and dissection of the mass from the surrounding subcutaneous tissues were performed with the patient under local anesthesia. The mass was well circumscribed and rubbery, and no particular increase in surrounding vascularity was noted (). Further excision was not performed because of the preoperative biopsy results of sebaceous epithelioma and the well-defined characteristics of the mass.\nHistopathological analysis revealed a multilobular tumor composed of basaloid cells at the periphery of lobules, with vacuolated cells presenting sebaceous differentiation in its central area. The tumor was well encapsulated and mostly well differentiated, but showed an area of regional matrix invasion. This portion showed an increase in the number of basaloid cells, nuclear atypism, and a decrease in sebocyte differentiation (). Histopathological findings suggested a diagnosis of sebaceous carcinoma.\nExaminations of the gastrointestinal tract, including endoscopy and colonoscopy, were performed to search for additional visceral tumors and rule out the possibility of MTS. Positron emission topography was also performed, and no underlying malignancies were detected in any of these evaluations. Radiation therapy with a total dose of 54 Gy was delivered in 27 fractions as an adjuvant therapy after surgery. The patient was followed-up for 6 months after the operation, with no evidence of recurrence. Short-term follow-up is still being performed. |
A 19-year-old female patient presented in the emergency department 3 h after ingestion of hair dye “Super Vasmol 33.” Patient was immediately shifted to the intensive care unit (ICU) in view of cervicofacial swelling along with breathing difficulty. In ICU, after the initial examination endotracheal intubation was was found to be indicated, in view of rapidly increasing cervicofacial swelling and respiratory distress []. Patient was conscious but unable to speak. Endotracheal intubation was attempted but since the larynx could not be visualized was quickly aborted. Patient developed hypoxia. Mask ventilation was applied with Ambu bag, but ventilation was not adequate. Patient developed rapidly declining oxygen saturation and decreasing heart rate for which cricothyrotomy was attempted, but again because of the extensive cervical swelling the exact site could not be located. Hence, it was decided to go for emergency tracheostomy with the percutaneous method. Since ventilation could not be established, patient developed severe hypoxia, bradycardia, and finally asystole. At this stage, instead of starting cardiac resuscitation, it was decided to continue with tracheostomy as establishing the airway was the priority in hypoxic cardiorespiratory arrest. As soon as the guidewire was introduced into the trachea we started cardiac resuscitation within 2 minutes and the rest of the procedure of tracheostomy was continued along with cardiac resuscitation. In about 5 minutes time, spontaneous circulation was restored. The patient was put on the ventilator and nor adrenaline infusion was started.\nHer initial examination included cervicofacial swelling in the conscious patient who was not able to speak and was in respiratory distress. Her vital parameters were: Heart rate of 110/min regular, blood pressure 130/90, respiratory rate of 22/min and normal temperature. Initial lab results showed white blood counts of 12,000, platelet count 432,000, creatine phosphokinase (CPK) 3700, serum glutamate-oxaloacetate transaminase (SGOT) 76, serum glutamate-pyruvate transaminase (SGPT) 18, creatinine 0.7, international normalized ratio 1.04, troponin I 0.09, magnesium 2.3, calcium 7.03, lactate dehydrogenase 1854 and arterial blood gas analysis showed partial pressure of oxygen 141, of carbon dioxide 54 and pH of 6.93.\nPatient was managed aggressively with IV fluids, mechanical ventilation and vasopressors. Subsequently the patient passed dark colored urine []. Her SGOT, SGPT and CPK were 6092 U/L, 1629 U/L, and 181,000 U/L, respectively on the on the 3rd day when the patient could be weaned off the ventilator. Her cervicofacial edema decreased considerably. Tracheostomy was closed on the 4th day and the patient was discharged. |
A 41-year-old Hispanic female had noted a small midline neck mass and was seen by an outside endocrinologist, who ordered a thyroid ultrasound that demonstrated a 25 × 6 × 14 mm left thyroid lobe with 8 and 11 mm nodules as well as a 36 × 10 × 15 mm right thyroid lobe. She stated that she thought the mass had been there since she was young; however, she recently began to feel a globus sensation with occasional dysphagia. She denied a family history of thyroid cancer or irradiation. She was followed up by endocrinology and started on levothyroxine 50 mcg/day. Over the next 2 years, the patient noticed the mass enlarging and the globus-like feeling worsening and represented to an outside facility for a repeat thyroid ultrasound, which showed a 19 × 6 × 7 mm left thyroid lobe and 19 × 6 × 5 mm right thyroid lobe along with a prominent 34 × 26 × 37 mm midline neck mass. Labs showed thyroid stimulating hormone (TSH) level of 3.890, free T4 level of 11.1, thyroid peroxidase antibody level of 6, thyroglobulin antibody level <1, and a calcium level of 9.6.\nThe patient was diagnosed with a thyroglossal duct cyst and was referred for a fine-needle aspiration (FNA) and a surgical consultation. Thyroglossal duct cyst FNA showed no malignant cells. Surgical excision of the cyst was performed transcervically with a Sistrunk procedure, removing a 40 × 36 × 30 mm mass. Final pathology showed 3 separate foci of papillary thyroid carcinoma that were 4 mm, 5 mm, and 5 mm in diameter. Both classic papillary and follicular variants were present. These microcancers were well differentiated, partially encapsulated, and had clear margins; no extrathyroidal, perineural, or lymphovascular spread was noted. Pathologic staging indicated ectopic multifocal T1aNxMx papillary thyroid carcinoma. MACIS score was calculated to be 3.43.\nWhen questioned about these outside institution ultrasound report discrepancies, the patient stated that both ultrasound experiences were “odd” and that they both took “hours” to perform as the original ultrasound technician had difficulty locating her thyroid. According to the patient, multiple technicians and a radiologist had to be consulted before a thyroid was “found and measured” as documented in their report. One technician told her she had an atrophic thyroid gland that was smaller than expected. The patient was scheduled for a CT neck scan after noting the discrepancies in her thyroid ultrasound reports and in preparation for determining how to follow up her native thyroid gland.\nThe CT scan showed a 26 × 28 mm mass in the tongue base with hypodense nodules up to 7 mm in diameter (Figures and ). A thyroid gland in its native position was not appreciated (). An intrainstitutional ultrasound showed a 2.0 × 1.6 × 1.4 cm tongue base mass with microcalcifications and internal vascularity; no normal thyroid tissue was present in the neck or thyroid bed.\nThe patient was counseled extensively on the treatment of micropapillary thyroid carcinoma, including the need for close observation, radioactive iodine, and potentially the removal of the thyroid tissue. The need for serial blood work, follow-up scans, and TSH suppression via levothyroxine were also explained to the patient. She also had concerns regarding her globus sensation and dysphagia, which had not resolved and had been worsening. In-office flexible endoscopy and CT scan both showed a submucosal fullness in the vallecula obliterating the space between the base of tongue and the epiglottis. The patient had also been on levothyroxine for three years prior to surgical intervention for thyroid dysfunction. Due to the multifocality of her ectopic thyroid tissue, the microcalcifications present in the lingual thyroid, and her distrust in the monitoring process due to her previous experiences with thyroid ultrasounds, she elected for lingual thyroid removal.\nLingual thyroid excision via transoral robotic surgery (TORS) was performed in May 2014, lasting 37 minutes without complications. The patient stayed in the hospital one night and was discharged on a liquid diet. Pathology demonstrated a 29 × 27 × 20 mm base of tongue mass showing thyroid tissue with focal atypia suspicious for papillary thyroid carcinoma at three separate foci with nuclear enlargement, focal nuclear membrane irregularity, and some nuclear grooves (); microcalcifications were present. Postoperative recovery was in line with our transoral base of tongue surgery experience, with patient follow-up at 1 and 3 weeks postoperatively and with return to normal diet by week 3. She has continued to be followed up by our institution since discharge. Flexible endoscopy showed a well-mucosalized tongue base and a 6-month postexcision CT scan for baseline anatomy for long-term surveillance showed no residual abnormalities in the base of the tongue or neck. TSH suppression via levothyroxine has remained adequate, with the most recent TSH level measuring less than <0.5 mU/L, and serum thyroglobulin has remained negative. She has not required irradiation. I-131 scintigraphy and thyroglobulin tumor markers show no evidence of recurrence to date. |
A 58-year-old man with gait disturbance came to our hospital on Oct 30, 2011. He did not complain of lower extremity weakness or leg pain. He was unable to regulate his steps by himself, and his acquaintances reported he walked with a slight limp. The impaired gait began 3 years after he had undergone subtotal gastrectomy and chemotherapy for 6 months. Thereafter, he felt tingling sensations in the hands and feet and acquired gait difficulties. He denied having a family history of abnormal gait or developmental problems. He had quit smoking and drinking alcohol many years prior to his diagnosis.\nUpon neurological examination, his muscle strength was normal. The limbs did not reveal any spasticity or rigidity. He responded normally to pin prick and thermal stimulation. However, there was a severely decreased response to vibration in both big toes, particularly in the left. The ankle jerk reflexes were bilaterally decreased, whereas the reflexes of other joints were normal. Both toes showed extensor toe signs. Other pathologic reflexes were not observed. Cranial nerve and cerebellar functions were normal. He did not exhibit scissoring or spastic gait, but rather a limping gait. Thus, he had mixed neurological signs that involved the upper motor neuron and peripheral nerves.\nConsidering his previous medical history, we investigated his brain, spinal cord, meninges, and peripheral nerve by using magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, blood tests, and electrodiagnostic studies. Notable results included the lower-normal limit of serum vitamin B12 (363 pg/ml; reference range 200-1,000 pg/ml) and generalized sensory dominant polyneuropathy with axonal involvement. Blood tests, including those for syphilis, HIV, diabetes, connective tissue disease, vasculitis, and renal and liver function, were normal. CSF chemistry and cell counts were also in the reference range. Mild small vessel disease and a small amount of chronic subdural hematoma were observed in the left cerebral convexity. Whole-spine MRI revealed normal signal intensity in the cord, except for disc extrusion with mild cord indentation, which did not seem relevant to the exhibited neurological symptoms. Nerve conduction studies showed mild sensory dominant peripheral polyneuropathy with axonal involvement.\nWe diagnosed him with SCD. He was intramuscularly administered cyanocobalamin regularly for 6 months. However, there was no improvement in his condition. After reconsidering his abnormal neurological signs and laboratory tests, we examined HSP mutations in his genomic DNA. As a result, the SPAST mutation was detected from the gene sample of the proband (). The mutation, a novel splicing mutation, is c.870+1delG (IVS5; heterozygote). The deletion of 188 bp of exon 5 was confirmed by RT-PCR. We compared this result with the mutation database (), and there was no previous information of this polymorphism or mutation at this locus.\nWe brought his children into the clinic for neurological examination. His 32-year-old son complained of subjective gait difficulty, even though there was no abnormality in his walking. However, he showed hyper-reflexic knee jerks, ankle clonus, and bilateral extensor toe signs. His 29-year-old daughter with an intellectual disability of unknown origin did not have any abnormalities upon examination. Genetic tests revealed that his son had the same SPAST mutation. The symptoms and signs of the patient and his son were different and are described in . Other relatives were not available to perform genetic analyses. |
A 65-year-old woman was admitted for elective total arthroplasty for osteoarthrosis of the right knee. She had taken 50 µg levothyroxine once daily for ten years, but the detailed indication for this was unknown. With the exception of levothyroxine supplementation and osteoarthrosis, the patient had an unremarkable medical record, with no history of diabetes mellitus, head injury, severe headache, stroke, tumor, or radiation therapy. She had undergone three uncomplicated vaginal deliveries when she was 28, 32, and 35 years of age, and regularly menstruated until natural menopause when 52 years old. She was not on any medications, including over-the-counter medications, or supplements except for the levothyroxine. The patient had not received any steroids either orally, by injection or topically. She had no smoking history and only drank alcohol socially.\nOn physical examination, the patient’s body mass index was 20.6 kg/m2 (height 146 cm, weight 44 kg), body temperature was 35.9°C, blood pressure was 105/63 mmHg, and heart rate was regular at 72 beats per min. The results of preoperative blood tests were unremarkable (). The patient adhered nil per os after midnight before surgery. At 2 pm on the day of surgery, the patient suffered from dizziness just before entering the operating room. A low blood glucose level of 52 mg/dL was detected. A 10-g dextrose intravenous infusion swiftly resolved the dizziness and a hypoglycemic attack was subsequently diagnosed. Total knee arthroplasty was subsequently performed under general anesthesia with desflurane as scheduled, with an uneventful intraoperative course. However, nausea occurred and persisted after surgery. Although the patient was not given intravenous glucose solution after surgery, she did not report further dizziness and four times daily glucose measurements did not detect hypoglycemia.\nOn postoperative day 5, the patient was referred to the Department of Internal Medicine for further investigation of the preoperative hypoglycemic attack and the nausea following surgery. On examination, her body temperature was 36.5°C, blood pressure was 134/70 mmHg, and heart rate was regular at 70 beats per min. No remarkable findings were found for the head, neck, chest, abdomen, and extremities, except for a surgical scar on the right knee and alabaster-like pale skin that was first recognized as a possible sign of adrenal insufficiency. Repeated laboratory tests after surgery showed that the serum sodium concentration remained in the range of 138–142 mEq/L. A 75-g oral glucose tolerance test yielded unremarkable results for glucose and immunoreactive insulin (). Insulin autoantibody was not detected using a radioimmunoassay (Cosmic Co., Tokyo, Japan). shows the results of hormones measured on the morning of fasting. The serum cortisol level was extremely low, with undetectable levels of adrenocorticotropic hormone (ACTH) and dehydroepiandrosterone sulfate. A low insulin-like growth factor-1 level of 9 ng/mL was equivalent to −4.9 SD for 65-year-old Japanese women, but growth hormone (GH) was depleted. Since ACTH deficiency was strongly suggested, levothyroxine supplementation was immediately withdrawn. Magnetic resonance imaging of the pituitary revealed an empty sella (), and computed tomography of the abdomen showed bilateral atrophic adrenal glands but without a mass indicating hemorrhage (). On pituitary stimulation tests, ACTH and cortisol showed no response to exogenous corticotropin-releasing hormone, and GH responded poorly to GH-releasing peptide-2 (). While a conventional-dose rapid ACTH stimulation test using 250 µg synacthen showed a reduced cortisol response, urinary free cortisol excretion substantially increased during a prolonged ACTH stimulation test using 0.5 mg tetracosactide twice daily (). Finally, the patient was diagnosed as having empty sella syndrome with deficits in ACTH and GH.\nAfter hydrocortisone was orally administered at a dose of 5 mg/day, the nausea resolved. Hydrocortisone was gradually escalated to 15 mg/day, with the dose split three times a day. However, polyuria did not develop, indicating normal posterior pituitary function. Finally, the patient was uneventfully transferred to a rehabilitation hospital. The patient’s GH deficiency was left untreated because she refused GH replacement therapy. Thyroid function tests on a follow-up outpatient visit showed free triiodothyronine at 2.07 pg/mL, free thyroxine at 1.33 ng/dL and thyroid-stimulating hormone at 5.60 µIU/mL, all being unremarkable; levothyroxine was thus not restarted. |
We report on an 81-year-old male patient diagnosed with an MMR-deficient HER-2 negative gastric adenocarcinoma staged cT4cN3M0 at disease presentation. He was offered upfront chemotherapy with four cycles of FOLFOX chemotherapy complicated by grade IV fatigue. The tumor was found to be unresectable on laparoscopic exploration, leading to abortion of the surgical procedure. Considering the relatively poor tolerance to the upfront chemotherapy, a second-line treatment with the anti-PD-1 ICI pembrolizumab was subsequently initiated () based on the MMR deficiency status of the tumor. The treatment was interrupted after the administration of the sixth cycle due to grade III liver toxicity. Following a 2-month treatment interruption marked by clinical stability and resolution of liver function tests, a radiologic assessment was repeated, revealing frank progression of the primary lesion () along with the development of new locoregional and retroperitoneal metastatic lymph nodes (progression stage). The patient was then complaining of an epigastric pain coinciding with a persistent low-grade bleeding from the primary tumor and was addressed for RT for hemostatic and locoregional control purposes. The patient received a volumetric intensity-modulated RT treatment on the primary tumor along with the enlarged abdominal lymph nodes for a total of 45 Gy in 1.8 Gy fractions (). Of note, the pembrolizumab treatment was resumed along with the initiation of the RT for three additional doses before being permanently interrupted based on the patient’s wishes. The positron emission tomography-computed tomography (PET–CT) repeated 2 months after the term of the RT revealed a near-complete resolution (disease resolution stage) of the gastric uptake along with the disappearance of the locoregional and metastatic lymph nodes (). Follow-up showed a subsequent long-lasting disease control of 12 months before a relapse marked by locoregional progression (re-progression stage) and diffuse distant metastatic spread (). The clinical course of the disease, the different time-points for collection of blood samples and time-points for pembrolizumab cycles, RT sessions and PET/CT imaging are summarized in .\nThe anti-NY-ESO-1 antibody was measured by ELISA assays (see Materials and Methods in ). We first determined an optical density (OD) cutoff value for the NY-ESO-1 humoral immune response positivity. In this, we used OD values from pooled plasma samples obtained from five healthy donors and two patients with cancer negative for NY-ESO-1 as the cutoff for NY-ESO-1 positivity at a dilution of 1:100. Plasma samples at different stages (disease progression, disease resolution and disease re-progression) were assayed. A weak positive reaction was exhibited in which the OD values slightly exceeded the cutoff, but no significant difference was observed between the three different disease stages (). Similarly, no significant difference was recorded when the results were compared with data obtained with the pooled serum from five healthy donors used as negative control.\nEnzyme-linked ImmunoSpot (ELISpot) results demonstrated that the NY-ESO-1-specific interferon-γ (IFN-γ) secretion by the patient T cells was detected at disease progression (after six cycles of first pembrolizumab treatment) against the NY-ESO-1 PepMix containing the whole 43 overlapping peptides (). This IFN-γ secretion was significantly increased at both disease resolution (after concurrent RT/pembrolizumab treatment) and the disease re-progression using this NY-ESO-1 PepMix (****p˂0.0001) (). Interestingly, 18 out of the 43 NY-ESO-1 single peptides tested (P3, P6, P7, P11, P12, P13, P14, P15, P16, P20, P23, P26, P31, P34, P35, P38, P39 and P42) were able to induce such specific IFN-γ production (). This result was confirmed in a second experiment (). Furthermore, a very high IFN-γ production (increased by sixfolds when compared with actin PepMix as a negative control) after stimulation with a promiscuous NY-ESO-1 peptide (P87–111), known to bind to multiple HLA-DR and HLA-DP4 alleles, was recorded (). Similarly, a very high IFN-γ secretion (increased by sixfolds when compared with actin PepMix as a negative control) was also recorded when a known highly immunogenic NY-ESO-1/HLA-A-02:01 restricted epitope (P157–165) was used ().\nMolecular tissue typing showed that the patient phenotype was HLA-A2-02:01 (). We used the Immune Epitope Database (IEDB1) prediction database to assess the patient’s HLA class II (DRB1*01:01, DRB1*13:03, DQA1*05:05, DQA1*01:01, DPA1*03:01, DPA1*01:03) binding predictability of the NY-ESO-1-derived peptides to these alleles (see Materials and Methods in the ). Using this IEDB1 database, we have re-examined the binding affinity of the identified 18 NY-ESO-1 peptides that induced specific IFN-γ production response ( and ). We have demonstrated that 5 NY-ESO-1 immunogenic peptides (P23 (P89–103), P34 (P133–147), P38 (P149–163), P39 (P153–167), P42 (P165–179)) have a strong binding affinity to the different patient’s HLA class II alleles (). Interestingly, peptide P39 (P153–167) showed high binding affinity to both HLA-DQ and HLA-DP alleles (DQA1*05:05, DQA1*01:01, DPA1*03:01, DPA1*01:03). Moreover, this peptide (P39: LQQLSLLMWITQCFL) displayed a high binding affinity (data not shown) to the patient HLA-A2-02:01 allele and contains the known NY-ESO-1 HLA-A2-02:01 (P157–165) immunogenic epitope (SLLMWITQC) that has been also demonstrated in our report to induce specific IFN-γ secretion (). To confirm the HLA-DP and DQ restriction element of P39, we used an antibody blocking experiment against these molecules. Anti-HLA-DP was able to inhibit 29.6% of IFN-γ production whereas anti-HLA-DQ resulted in 48.1% inhibition. Moreover, the combination of both antibodies was able to reduce IFN-γ production by 66.7% (). Therefore, we have considered this NY-ESO-1 peptide (P39: P153–167) as a novel promiscuous immunogenic epitope restricted to different HLA alleles. Similarly, we used this IEDB1 database to re-examine the binding affinity of 11 subpeptides (each consists of 15 amino acids) derived from the known NY-ESO-1 promiscuous immunogenic peptide (P87–111) that consists of 25 amino acids (). Two predicted subpeptides, PP1 (P87–101) and PP2 (P88–102), showed high binding affinity to five different alleles of the patients (HLA-DR 01.01, HLA-DQ 01.01, HLA-DQ 05.05, HLA-DP 01.03 and HLA-DP 03.01) (). PP3 (P89–103) predicted to bind to the HLA-DR 01.01, HLA-DQ 05.05 and HLA-DP 01.03 alleles, whereas PP4 (P90–104) has the ability to bind to the HLA-DR 01.01 and HLA-DQ 05.05 alleles. Interestingly, 9 out of 11 subpeptides (PP1–PP9) also predicted to highly bind to the HLA-DQ 05.05 allele ().\nWe first examined the CD4+ and CD8+ T cell distribution at different disease stages of the patient. Similar distribution of CD4+ and CD8+ T cells was recorded at disease progression and re-progression in which the CD4+ T cells were the most dominant population (55.1% CD4+ vs 36.6% CD8+ at disease progression and 56.4% CD4+ vs 34.4% CD8+ at disease re-progression) (). However, the CD8+ T cell population was dominant (6.8% CD4+ vs 81% CD8+) at disease resolution (). Because the patient expresses the HLA-A2-02:01 allele, we examined specific CD8+ T cells to the NY-ESO-1 HLA-A2-02:01 (P157–165) immunogenic epitope described above using an HLA-A2-NY-ESO-1-dextramer staining assay (Materials and Methods in the ). CD8+/HLA-A2-NY-ESO-1-dextramer+ T cells were present at both disease progression (6.5%) and disease resolution (6.4%) and they were relatively increased at disease re-progression (14.5%) (). CD8+ T cells from an HLA-A2+ and an HLA-A2− normal healthy controls stained negative for this dextramer (). We next examined the cytotoxic T cells subset within the CD8+/HLA-A2-NY-ESO-1-dextramer+ T cells using the CD107 sensitive marker for the cytotoxic activity determination (Materials and Methods in the ). Importantly, the CD107+ cytotoxic T cell subset was low at disease progression (2.5%), markedly increased at disease resolution (12.9%) and significantly decreased again at disease re-progression (3.6%) (). CD8+ T cells from an HLA-A2+ and an HLA-A2− normal healthy controls stained negative for CD107 molecule (). It has been reported that ICI blockade can enhance regulatory T cells (Tregs) inhibition. Similarly, it has been demonstrated that irradiated Tregs can exhibit a reduced capacity to suppress the proliferation of CD8+ T cells particularly when combined radioimmunotherapies are used. To this end, we analyzed the presence of the Tregs (CD4++ CD25high FOXP3+) population at disease resolution and disease re-progression in the peripheral blood mononuclear cells of the patient. Tregs distribution was low and comparable at both disease stages ().\nThe cytokine/chemokine profile was investigated in the plasma of the patient at disease progression, disease resolution and disease re-progression using multiplex analysis (Materials and Methods in the ). We classified the cytokines and/or chemokines profiles based on their upregulation or downregulation status during the three patient’s disease stages as mentioned above into two groups. Group 1 contains five cytokines (IFN-γ, tumor necrosis factor-α (TNF-α), IL-2, IL-5 and IL-6) that were present at disease progression, significantly downregulated at disease resolution and significantly upregulated again at disease re-progression (). Group 2 contains four biomarkers (perforin, soluble FAS (sFAS), macrophage inflammatory protein-3α (MIP-3α) and C-X-C motif chemokine 11 (CXCL-11)/ITAC) that were present at disease progression, significantly upregulated at disease resolution and significantly downregulated again at disease re-progression ().\nThe remaining biomarkers (MIP-1α, MIP-1β, sFASL, sCD137, GM-CSF, IL-1 β, IL-4, IL-7, IL-8, IL-10, IL-12, IL-13, IL-17A, IL-21 and IL-23) were found to be upregulated only at disease progression (data not shown). Granzyme A and B were below detectable range (data not shown). |
A 67-year-old Caucasian male with past medical history of mantle cell lymphoma and atrial fibrillation presented to a tertiary hospital with acute altered mental status. Two weeks prior to this presentation, the patient developed a truncal rash. This was thought to be a drug reaction to Ibrutinib, a small molecule drug that binds permanently to Bruton’s tyrosine kinase, that he was receiving as therapy for his underlying lymphoma. The medication was discontinued despite excellent disease response over the past two years. On the day of presentation to an outside hospital (three days prior to presentation at our tertiary hospital), the patient was found mildly confused by his family members and unable to stand without assistance. In the emergency department he was tachycardic with high fever, but normotensive. Physical exam demonstrated altered sensorium with a Glascow Coma Score (GCS) of 14 and intact cranial nerves, however there were absent reflexes in bilateral upper and lower extremities and notable weakness in his legs, with equivocal plantar reflexes. Meningismal signs were absent. The patient had a morbiliform rash throughout his trunk without pruritus.\nLaboratory values were significant for leukocytosis with neutrophilic predominance and acute kidney injury. The patient was initiated on broad spectrum antibiotics including vancomycin and piperacillintazobactam. Over the course of the next three days the patient became increasingly disoriented, and his aphasia progressively worsened. Antibiotics were broadened to include azithromycin and acyclovir. Lumbar puncture at that time was deferred due to recent use of an anticoagulant and high risk of bleeding. The patient was transferred to a tertiary hospital for further management.\nUpon presentation to our institution, the patient was found to be altered and unable to follow commands. Per the patient’s family, he had no recent travel, no bug bites, no new drug or herbal use. He had no seizurelike activity. On examination, the patient was afebrile, tachycardic, tachypneic and normotensive. He had a GCS of 6 that was a significant decline from his initial presentation, with weakness throughout all four extremities, absent reflexes, and aphasia. Punctate erythamatous papules were noted covering his back, with healed lesions on the lower extremities but sparing the soles. He was initiated on vancomycin, ceftriaxone, ampicillin, and acyclovir. Lumbar puncture demonstrated 126 white blood cells with neutrophilic predominance, protein of 0.69 gm/L, glucose of 6.88 mmol/L, and negative gram stain. Brain magnetic resonance imaging showed non-specific changes and lack of intra-cerebral lymphoma involvement, while an electroencephlogram showed diffuse background irregular delta and theta slowing (a non-specific finding). Serum thyroid hormone levels, HIV, anti-nuclear antibody, a paraneoplastic panel and blood cultures were negative. Cerebrospinal fluid (CSF) cytology, and fluid antibodies for herpes, zoster, crypotoccus, and coccidiodes were negative. On the ninth day after initial presentation, the CSF West Nile Virus IgM antibody returned positive. All antibiotics and antiviral medications were discontinued and the patient was managed conservatively with close monitoring. He made significant progress over the next few weeks with supportive care alone, regaining the ability to speak and follow complex commands. Motor strength in his lower extremities improved with physical therapy but he still required the use of a cane and displayed a persistent fine tremor at the time of discharge.\nOver the following year, the patient has continued to make significant improvement with aggressive rehabilitation. He still requires the occasional use of a walker for intermittent dizziness but has returned to his baseline with complete recovery of his neurologic functions. He was restarted on ibrutinib and his mantle cell lymphoma remains in remision. |
A 40-year-old male with a history of hypertension and diabetes presented with a four-day history of right earache, headache, and vertigo. He was initially seen by his primary care physician and given antibiotics for an ear infection; however, when his vertigo worsened, he subsequently went to an outside hospital emergency department. After being diagnosed with hemorrhage in the posterior fossa, he was transferred to our institution.\nA head computed tomography (CT) without contrast demonstrated hemorrhage in the region of the inferior right cerebellar peduncle, which appeared intraparenchymal, with extension into the fourth ventricle (). A head CT angiography (CTA) with contrast was then performed, which did not reveal an aneurysm or vascular malformation (). The right posterior inferior cerebellar artery (PICA) was not well seen and was thought to be compressed by surrounding hemorrhage, involved with vasospasm or thrombosed.\nMagnetic resonance imaging (MRI) of the brain demonstrated an enhanced right cerebellopontine angle mass underlying the hemorrhage in the right cerebellopontine angle (Figures and ). A cleft of T2 hyperintensity between the mass and the medulla representing cerebrospinal fluid established that the mass and hemorrhage were actually extra-axial (). Catheter angiography was also performed, which demonstrated a tumor blush without aneurysm or vascular malformation (images not shown). In addition, as metastasis was included in the differential diagnosis, a whole-body PET/CT was also attempted to make an evaluation for a potential primary malignancy and possible additional lesions elsewhere; however, the study was not successful due to the patient's claustrophobia.\nThe patient subsequently underwent resection of the mass. Histologic evaluation of the mass showed cytologically bland tumor cells with vascular proliferation, which were positive for cluster of differentiation (CD) 31 and CD34 as well as negative for inhibin, glucose transporter 1 (GLUT-1), and epithelial membrane antigen (EMA), consistent with a capillary hemangioma (). Finally, brain MRI performed one year later demonstrated interval resection of the right cerebellopontine angle tumor without evidence of residual tumor (). |
A 31-year-old woman, gravida 3, para 2, was referred to a tertiary care hospital with fetal demise and umbilical cord prolapse through the maternal urethra at 21 weeks of gestation. She was admitted to the referring hospital with complaints of on-and-off watery vaginal discharge and mild vaginal bleeding. Laboratory investigations showed hemoglobin of 9 gm/dl, white blood cell count of 11.3 × 109/μl, urine analysis yielding WBC >100/HPF and blood group A+.\nAt the tertiary care facility, initial patient assessment revealed a pulse rate of 111/min, blood pressure of 138/74 mmHg, respiratory rate of 22/min and temperature of 37.5 degrees centigrade. There was no history of any associated medical disorders, no prior history of contraception, hematuria or urinary incontinence. Her first pregnancy ended 6 years ago, at term, by emergency cesarean section (CS) for non-reassuring fetal heart tracing. The outcome was male weighing 2.3 kg, alive and healthy. Her second pregnancy ended, 2 years ago, in CS at 24 weeks of gestation due to antepartum hemorrhage. Outcome was early neonatal death of a male baby. Intraoperatively, bladder injury was identified and repair was performed by a urologist. She received two units of blood and remained in the intensive care unit for 3 days. After the second CS, she had symptoms of lower urinary tract infection for which she received treatment on an outpatient basis, but no hematuria. In the current encounter, the uterus was enlarged to 20-weeks size and was tender to palpation. The uterine contour was normal and there were no palpable contractions. On local examination of the vulva, a 4-inch-long thin loop of umbilical cord was seen coming through the maternal urethra. On speculum examination, there was no leakage of liquor or bleeding through the cervix. Urgent ultrasound scan confirmed fetal demise and one small defect was seen in the posterior wall of the bladder (1.26 cm) through which the cord emerged and traversed the bladder []. Impression was scar dehiscence with vesico-uterine fistula.\nManagement plan was discussed with the patient and her husband. The couple refused for any images to be taken during the procedure. Laparotomy was carried out. There was no free fluid in the peritoneal cavity. Uterus appeared normal. Uterovesical pouch was obliterated with dense adhesions. Adhesions were released by sharp and blunt dissection. On dissection, a 1.5 cm connection was found between the dome of the bladder and the anterior uterine wall. Fetus and membranes were evacuated from the uterus through a low transverse uterine incision. Uterus was repaired in two layers. Bladder repair was carried out in two layers after adequate mobilization of the tissue planes. Foley's catheter was retained for 10 days. Successful repair was confirmed on post-operative cystourethrogram. |
A 23-year-old healthy Caucasian male consulted for a dull discomfort/pain felt on the buccal gingival margin of the upper left central incisor (2.1). The patient explained that he was having food impaction under the gingival margin and that he noticed that the gingiva was inflamed locally on the buccal side. Oral hygiene was satisfactory as the patient was a dental student.\nClinical examination [] revealed a concavity on the buccal collar region, associated with a localized gingival inflammation. The concavity involved enamel and extended to root cementum through the cementoenamel junction. The surface of this concavity was sound and hard when probing with a dental probe, ruling out a decay cavity. Furthermore, clinical features did not resemble to tooth loss but rather a dental morphological anomaly. Other differential diagnoses such as acid erosion, occlusion-initiated abfraction, or mechanical abrasion were ruled out due to the absence of any corresponding etiological factors. In addition, no history of dental trauma had been reported by the patient or his parents. The patient did receive an orthodontic treatment, and occlusal stability has been checked.\nHence, periodontal probing showed a localized pocket (4 mm) on the buccal site of the 21. Probing depth ranged from 1 to 2 mm on all other sites of the anterior maxillary sector. Clinical examination failed to reveal any periodontal disease-associated clinical signs on other sites than the buccal site of 21.\nPulp vitality was confirmed by cold tests. Intraoral periapical radiography (not presented) failed to show any signs of dental/periodontal pathology.\nA cone beam radiographic computed tomographic examination was decided to further investigate the dental morphology and the three-dimensional (3D) extent of tooth malformation.\nCoronal, axial, and 3D views clearly identify a buccal invagination cavity involving merely enamel structure and deepening at the cementoenamel junction and continuing at the root structure subgingivally []. Enamel and cementum showed radiographic continuity and thus did not resemble to root caries or external resorption lesions. Moreover, pulpal integrity was not compromised as no periodontal-endodontic communication was present. However, alveolar bony dehiscence facing the invagination was present, thus favoring plaque accumulation and progression of periodontal attachment loss. The 2.1 was the only tooth showing this malformation.\nA diagnosis of an attachment loss associated with atypical buccal DI on the 2.1 was given.\nIt was decided to restore the invagination area surgically. A full thickness minimal flap was raised to expose the buccal root surface of the 2.1 until the bony crest []. Granulation tissue removal and gentle root planning were performed. After isolating the root from bleeding using hemostatic gauze (Surgicel®, Neuchâtel, Switzerland), a resin charged ionomer (Ketac Fil plus® 3M ESPE, Neuss, Germany) was used to fill the subgingival part of the invagination (until the cement-enamel junction). For the supragingival zone, after etching with phosphoric acid (37%) and adhesive application (Scotchbond®, St. Paul, USA), a microhybrid composite (Spectrum®, Dentsply, USA) was used []. Special burrs and micro discs were used for polishing, and the flap was sutured [].\nRecall visits were scheduled at different intervals. Satisfactory periodontal healing was observed on the buccal site. Gingival inflammation and food impaction have disappeared 1 month after surgery []; during this visit, composite polishing was performed again to assure an optimal contour and surface smoothness. Twelve months after intervention, the site was still periodontally healthy and the patient presented with full satisfaction of the clinical results and the esthetic outcome of the direct restoration []. Periodontal probing showed the reduction of pocket depth to 2 mm at the buccal/middle site of the 2.1. The last recall visit was at 18 months with a good stability of clinical parameters []. |
A 75-year-old female with worsening exertional dyspnea and angina for the previous 10 months was referred for cardiology evaluation. She had several cardiovascular risk factors (hypertension, diabetes, hiperlipidaemia and a morbid obesity with a BMI of 40), chronic lung disease, and renal chronic insufficiency with a calculated creatinine clearance of 38 mL/min. On the transthoracic echocardiogram, a severe stenosis aortic was diagnosed with an aortic orifice area of 0,7 cm2 and a systolic left ventricle dysfunction with an ejection fraction of 38%. Coronary angiography showed coronary arteries without lesions and good femoral accesses. The intraoperative transesophageal echocardiogram confirmed a heavy calcified aortic valve with an annulus of 21 mm. The transfemoral implantation of the 26 mm CoreValve prosthesis was complicated with acute moderate aortic leak () and moderate mitral regurgitation associated to a deep prosthesis implantation. Repositioning the prosthesis with a snair was performed to reduce the severity of mitral regurgitation with slight improvement (). The postoperative course was uneventful, and the patient was discharged eight days later.\nOne month later the patient developed a progressive dyspnea and was readmitted with acute pulmonary edema. Transthoracic echocardiography evidenced a moderate-to-severe aortic paraprostesic leak (which occupies a quarter of the sewing ring, with a steep jet deceleration slope of 6,3 m/s2 and a holodiastolic flow reversal in the descending thoracic aorta) [] associated with a severe left ventricle dilatation and dysfunction (left ventricle diastolic dimensions in paraesternal long axis increased from 53 to 70 mm by M-mode tracing preprocedure and postprocedure, respectively). She performed angiotomography which suggests an adequate position prosthesis although underexpansion (). For that reason a postdilatation with a Nucleus NuMED balloon 22 mm was done without clear clinical or echocardiography improvement. The patient had a decompensated heart failure refractory to medical treatment and, despite the high-operative risk, we decided to perform an aortic valve replacement via standard median sternotomy. The 26 mm CoreValve prosthesis was removed and replacement of the aortic valve using 21 mm Mitroflow was done (). The postoperative period was complicated by worsened renal failure requiring dialysis and paroxysmal atrial fibrillation but the patient was discharged without dyspnea two months later. Transthoracic echocardiography at discharged showed a normal prosthetic valve function and a slight improvement on left ventricle dimensions and function, although not completely normal. |
Case report: a 45-year-old female patient with previous diagnoses of hypertension, diabetes, hypothyroidism, and chronic rheumatic valve disease was seen as an outpatient; she reported a 3-year history of progressive exertional dyspnea and chest pain. She also reported orthopnea and paroxysmal nocturnal dyspnea and was taking 25 mg/day of atenolol.\nA physical examination revealed a blood pressure of 140 over 80 mmHg and a regular heart rate of 80 bpm, which was typically parvus et tardus. Her cardiac auscultation presented a +++/6+ (according to the Levine classification) mid-systolic ejection murmur in the aortic area and a ++/6+ diastolic rumble in the mitral area. The pulmonary and abdominal examinations revealed no abnormalities.\nA 12-lead electrocardiogram revealed left atrial and left ventricular (LV) hypertrophy. A chest X-ray showed left atrial enlargement, a normal LV size, and signs of pulmonary congestion evidenced by Kerley B lines. Transthoracic echocardiography showed that the LV diastolic diameter was 49 mm, the LV systolic diameter was 32 mm, the interventricular septum was 11 mm, the posterior wall was 12 mm, the LV ejection fraction was 72% and there were diagnoses of aortic stenosis with a peak systolic gradient of 82 mmHg, and mitral stenosis with a mitral valve area of 1.1 cm2.\nThe patient was referred to surgery for her chronic rheumatic heart disease with mitral and aortic stenosis and NYHA functional class III. Preoperative coronary angiotomography revealed a calcium score of 0 and no coronary disease.\nSurgery was performed, and the patient underwent mitral and aortic replacement with mechanical prostheses. Her recovery from the surgery was uneventful.\nThe histopathological report of the surgical specimens revealed the presence of Aschoff bodies in the proliferative phase, which is suggestive of acute RF (Figure ). In addition, an examination of the valves showed characteristics of chronic rheumatic heart disease involvement and the presence of Anitschkow cells (Figure ), valvular fibrosis, calcification, and neovascularization.\nThe histopathological findings led to the unexpected diagnosis of acute RF with myocarditis. Before histopathologic results were available, symptoms such as tachycardia and worsening of heart failure symptoms were thought to be due only to the underlying valvular heart disease. The diagnosis of rheumatic myocarditis allowed for a more complete treatment of the patient, with introduction of prednisone (60 mg daily) and resuming of secondary prophylaxis for RF with benzathine penicillin G 1.200.000 UI intramuscularly every 3 weeks. Even after cardiac surgery, she still presented tachycardia and exertional dyspnea, symptoms that may be suggestive of myocarditis because other causes were excluded.\nThe combined treatment of the valvular heart disease and the myocarditis led to a complete resolution of symptoms, with resolution of the heart failure and tachycardia symptoms within 2 weeks after surgery and glucocorticoid treatment. Then, 60 mg of prednisone a day was maintained for 6 weeks, with a progressive dose reduction of 20%/week until discontinuation. This patient is still undergoing secondary prophylaxis for RF with benzathine penicillin G every 3 weeks for an indefinite time. She is presently asymptomatic. |
A 63-year old female with a past medical history of bronchiectasis was diagnosed with a grade 3 ductal breast cancer. She initially underwent breast conservation surgery in the form of a right wide local excision and sentinel lymph node biopsy. Due to the proximity of the carcinoma to the surgical resection margins she subsequently had a skin sparing mastectomy and extended autologous latissimus dorsi flap reconstruction.\nOn her first post-operative outpatient visit she had a large seroma in relation to the tumour site, which was drained in clinic. She was seen two weeks later and was found to have a large seroma over the back wound (LD site); this was aspirated and drained 650 mls serous fluid. On two consecutive outpatient visits at fortnightly intervals she had recurrent large seromas at the LD site. On each occasion these were aspirated and over a litre of serous fluid drained.\nOn her fourth visit, following aspiration of the seroma there was a residual fullness in the lower region of the LD donor site. On palpation this felt like a separate firm lump, clinically in keeping with a possible lumbar hernia. An urgent CT scan of the abdomen and pelvis confirmed the diagnosis of a lumbar hernia containing the majority of the small bowel and right colon (Figures and ). The CT scan also demonstrated an incidental finding of an enlarged polycystic liver.\nShe accordingly underwent an open repair of the lumbar hernia using the previous LD scar for access (Figure ). Small bowel loops within the hernia sac were freed from adhesions and the small bowel and caecum reduced into the intra-abdominal cavity. The edges of the defect were closed with interrupted PDS, and a 30 × 30 cm onlay prolene mesh was used for reinforcement.\nPostoperative recovery was uneventful and she was commenced on adjuvant hormonal and herceptin therapy. |
A 32-year-old male presented to the emergency room with a high-grade fever complaining of huge painful and right scrotal swelling. The swelling started 5 days prior to the presentation, increasing progressively in size. The patient had no history of trauma, neither burning micturition nor similar swelling in the past. The patient had previously been diagnosed with Crohn's disease (CD) with a documented vesicointestinal fistula [].\nThe physical examination reviled an ill-looking toxic cachectic patient. The temperature was 39.5°C; blood pressure was within normal range; there was a huge tense and severely tender right scrotal swelling measuring approximately 20 cm × 15 cm []. The overlying skin was warm and edematous. The testis could not be palpated. Digital rectal examination was done; no obvious fistulas were felt although some tenderness was encountered at the anterior part of the rectum.\nThe laboratory investigations showed elevated leukocytic count and raised ESR. Ultrasound was performed and it showed normal testes with normal intratesticular flow using Doppler. Marked scrotal wall thickening was present. There was an evident right-sided fluid collection with the appearance of internal septation and loculation []. The patient was informed about his condition; the need for emergency incision and drainage was explained. However, the patient refused admission and was discharged against medical advice.\nTwo days later, the patient presented with increased swelling, persistent fever, and septic shock. He was admitted, resuscitated, and shifted to the operating room for emergency incision and drainage; almost 500cc of puss was drained from the right hemiscrotum []. There was an associated ischiorectal fossa abscess. Intraoperatively, the right testis was examined, and it appeared normal; the wound was left open. The patient was kept on intravenous antibiotics and daily dressing until his condition stabilized, and his laboratory results returned to normal. The culture of the drained puss showed heavy growth of Proteus mirabilis and Escherichia coli, were both sensitive to the already prescribed antibiotics. The patient was discharged in good condition on oral antibiotics and daily dressing. On follow-up, he was feeling well; the wound was healing with the formation of healthy granulation tissue. |
A 73-year-old female with a 2-month history of permanent clear rhinorrhea, which had been treated previously as a rhinitis by a neumonologist, was referred to the ear–nose–throat (ENT) department. Physical examination revealed right-sided rhinorrhea. There was no history of head trauma or cranial surgery. The nasal discharge was interpreted as cerebrospinal fluid (CSF) rhinorrhea. A computed tomography (CT) scan revealed a defect in the middle cranial fossa communicated to the lateral recess of the right SS and a soft tissue mass within the sinus. Magnetic resonance (MR) imaging showed a brain tissue herniation through the bony defect []. CT cisternography, following administration of intrathecal fluorescein, identified an intrasphenoidal encephalocele on the right side of the sinus [Figure and ]. It appeared to be due to persistence of the Sternberg's canal. The patient underwent transnasal endoscopic surgery by an otorhinolaryngologist. The bony defect in the right SS was not identified during the procedure and the sinus was filled with abdominal fat. There was a CSF leak recurrence 1 month later. Thus, the patient underwent a second and a third transnasal endoscopic surgical repair by the same physician. She continued to have CSF rhinorrhea and was referred to the neurosurgical department. Because of the previous failure of the endoscopic surgery, the patient underwent a transcranial repair. A fronto-temporal approach was used, and under the operating microscope magnification, intradural dissection was performed until the temporal lobe encephalocele was identified []. Once the lesion was correctly exposed, the protruded temporal tissue was reduced in volume by bipolar cauterization and removed. After that, the SS was filled with absorbable hemostatic gelatin sponge. The skull base defect was closed with a multilayer plasty: double layer of dural graft, bone fragments obtained from the craniotomy edge with rongeurs and fibrin glue. There was no complication related to the surgical procedure. No recurrence of CSF leakage occurred 2 years after surgery. |
A 10-year-old male child visited our department with the chief complaint of swelling in the right cheek region for 2 months []. There was an increasing mobility of the teeth and frequent bleeding from the gums. Medical history revealed that since the age of 4 years, the boy suffered from recurrent febrile episodes, temperatures recorded between 101°F and 103°F, accompanied with boils and furuncles on the face, and dull earache. Each episode was treated with appropriate antibiotic and antipyretic therapy.\nGeneral examination revealed boils on the face and extensor surface of the hands along with marked swelling extending from the right malar region to the inferior border of the mandible. Intraorally, there was diffuse gingival enlargement [], generalized tooth mobility, spontaneous bleeding from the gums, the presence of local factors [], and mucosal ulcers in the floor of the mouth [].\nBecause there was a history of recurrent febrile episodes and severely mobile teeth along with gingival enlargement, the patient was advised for routine blood investigations, posteroanterior view of the skull [], and cone-beam computed tomography (CBCT).\nThe CBCT [] and orthopantomogram [] revealed severe loss of alveolar bone up to or beyond apical third of the roots. Hematological reports revealed mild anemia, increased erythrocyte sedimentation rate (ESR), increased C-reactive protein (CRP), and marked decrease in ANC. Differential leukocyte count revealed marked lymphocytosis, neutropenia, and eosinophilia. Absolute eosinophil count was significantly raised (336 cells/mm3).\nThe patient was referred to the department of hematology and was advised for differential leukocyte count twice every week for 3 weeks. He was advised a urine and stool culture along with blood malaria parasite (MP) and filarial parasite (FP). The reports were negative for MP and FP. Urine culture revealed the presence of Escherichia coli and stool examination revealed the presence of bacterial cells. All the subsequent blood examinations revealed pronounced neutropenia (10%–22%) and lymphocytosis (70%–88%). A peripheral smear was done to rule out leukemic gingival enlargement that reported no abnormality. Assessment of serum immunoglobulin revealed significantly raised levels of immunoglobulin G (IgG) and slightly raised levels of IgA. Liver function tests revealed increased levels of alkaline phosphatases.\nMeanwhile, the boy had another febrile episode accompanied with increased gingival enlargement and pus discharge from the gingival sulcus of the upper left first molar. A gingival tissue biopsy, Gram staining, and culture of the pus were done. Biopsy reported a chronic inflammatory lesion. Gram staining of the pus revealed increased Gram-positive cocci in pairs and a few thick Gram-negative bacilli. Pus culture revealed normal oropharyngeal microflora. The boy was treated by 500 mg of amoxicillin TID and paracetamol 500 mg TID for 5 days and sent for a bone marrow examination. It reported an adequate particulate cell density and suppression of erythropoiesis and megakaryopoiesis. Myelopoiesis was grossly suppressed and maturation arrest was seen at metamyelocytic stage. Lymphopoiesis was accelerated and the bone marrow was hypoplastic [].\nDue to nonincidental family history, repeated hematological findings of neutropenia and lymphocytosis, and recurrent febrile episodes concurrent with gingival enlargement, mucosal ulcerations, and rapidly advancing periodontal disease, a diagnosis of CIN was made after excluding all other systemic conditions having similar clinical presentation.\nHe was prescribed a 150 μg subcutaneous injection of recombinant granulocyte colony-stimulating factor (G-CSF) (neukine 150 mcg, Intas Pharmaceuticals Ltd.), once daily for 8 days by the consulting hematologist. The aim was to stimulate proliferation and differentiation of granulocytes and to maintain ANC of 500–1000/mm3.[] For reducing gingival inflammation, he was advised an oral rinse of 15 ml of chlorhexidine gluconate (0.12%) twice daily 30 min after gentle tooth brushing using a fluoridated nonmedicated tooth paste and an ultrasoft toothbrush. He was asked to visit the dental out patient department every 3–4 weeks for 3 years of follow-up for the evaluation of oral hygiene and gingival inflammation. Acute inflammatory flare-ups were addressed by supragingival ultrasonic scaling and polishing as and when required.\nOne month after the treatment, there was a significant reduction in the gingival inflammation []. There were no mucosal ulcerations [] or lymphadenopathy. At 3-year follow-up, reasonable degree of stability was observed in the oral cavity, barring occasional episodes of bleeding gums which reportedly subsided spontaneously []. |
A 28-year-old man who was known to have FHI in the right eye was referred for secondary IOL implantation. Six years before referral, his right eye had undergone cataract surgery which was complicated by the capsular rupture and vitreous prolapse, for which the patient received complete anterior vitrectomy with removal of all capsular remnants. The patient was left aphakic and was prescribed with aphakic contact lens; however, he developed contact lens intolerance over time. On presentation, his uncorrected visual acuity was 20/20 in the left eye and counting finger in the right eye which could be corrected to 20/20 with aphakic correction. Intraocular pressure was normal in both eyes. Slit-lamp examination of the right eye revealed diffuse fine keratic precipitates over the entire corneal endothelium and mild iris stromal atrophy with notable heterochromia. There was aphakia with no capsular remnant. No cell was present in anterior chamber or vitreous. The left eye was normal. Advantages and unknown risks of the surgery were thoroughly explained for the patient and he consented to have secondary IOL implantation. Under general anesthesia, an iris-claw IOL (Artisan, Ophtec, Groningen, The Netherlands) was implanted in right eye through a limbal incision followed by a superior peripheral iridectomy. Enclavation of the IOL haptics was easily performed; no intraoperative complication including hyphema was noted. After surgery, the patient received a topical antibiotic and topical steroid eye drops. The latter was prescribed as 0.1% betamethasone every 2 hours while awake for 1 week and then four times a day which was tapered within 6 weeks. Postoperative follow-up examinations were performed at 1, 2, 3, 5, and 7 days, then weekly for 1 month, monthly for 3 months, and every 2–3 months thereafter until 1 year. Postoperative course was uneventful with no significant anterior chamber inflammation (more than 1+ cellular reaction) or fibrin formation. On the first postoperative day, the examination showed 1+ cellular reaction and pigments in the anterior chamber which disappeared within 2 weeks. No subsequent exacerbation of the intraocular inflammation was observed during 12 months of postoperative follow-up; therefore, no additional course of steroid was required. Occasional cells in the anterior chamber were seen at some visits which were left untreated. There were few visually insignificant deposits on the IOL surface []. One month after surgery, the patient achieved a best-corrected visual acuity of 20/20 in the right eye which was maintained for 12 months of follow-up. The IOL remained stable with no subsequent iris atrophy at the enclavation sites, subluxation, or pupil ovalization. Furthermore, the patient did not develop any anterior or posterior segment complication including glaucoma, vitreous inflammation, or clinical cystoid macular edema. |
A 19-year-old girl with Rett syndrome was scheduled for elective phacoemulsification with intraocular lens insertion for immature cataracts. We did not know about her family history and other medical history because she was an orphan and she could not communicate with our medical team. But there was some description on the consultation paper from her orphanage. According to the paper, her physical disability had steadily progressed although her developmental milestones had been normal until the age of ten months, and she was known to have diffuse brain atrophy with mental retardation, including typical autistic disorder and convulsions. Other features of her disorder were bruxism and trismus. She also had untreated scoliosis and she had been bedridden for 5 years.\nOn examination, her weight was 23 kg (below the 5th percentile), her body temperature and blood pressure were normal and she was not distressed. The thyromental distance was 3.5 cm and the airway was normal except for trismus and excessive secretions. Auscultation of the heart and lungs was unremarkable. She exhibited hand-wringing and her muscle mass was diminished. Her muscle tone was increased and her reflexes were brisk. Her seizures were well controlled with valproate.\nThe preoperative hemoglobin level was 11.0 (g/dl) and the other lab tests were normal. On chest x-ray, the heart and lungs were unremarkable, although severe scoliosis of the T/L-spine and diffuse osteoporosis were observed. Pulmonary function testing was not conducted due to a lack of patient cooperation. A head CT scan revealed diffuse brain atrophy, and the background was slow on the EEG.\nThe patient was quiet on arrival to the operating room without premedication. In the operating room, 3-lead ECG, noninvasive blood pressure monitoring and a pulse oximetry monitor were placed. Atropine 0.2 mg was given as premedication. She was continuously grinding her teeth and could not communicate. Her pulse oximetry was 99% on room air and her blood pressure was 110/75 mmHg. Anesthesia was then intravenously induced with propofol 40 mg and rocuronium 15 mg. After loss of consciousness, mask ventilation was started with 2 vol% of sevoflurane. Because we expected her trismus would be improved after injection of rocuronium, direct laryngoscopy was attempted. But while the patient was fully relaxed, her mouth opening was very limited. We could not introduce a Macintosh laryngoscope (No. 2) into the mouth. So, the fiberoptic-guided nasotracheal technique was initially chosen considering the extremely limited mouth opening, but this was unsuccessful because her nostrils were too small to intubate with a tube with an internal diameter of 5.0 mm. Before an attempt was made with a 4.5 mm tube, we realized that the small space due to the malocclusion was large enough to handle a 480-sized oral airway (diameter: 0.48 mm). Fiberoptic-guided orotracheal intubation through this space was then successfully performed with suction (). The trachea was intubated with a 5.0 mm oral tracheal tube and it was fixed at 18 cm. Anesthesia was maintained with N2O 2 L/min, O2 2 L/min, sevoflurane 1.0-2.0 vol%, a tidal volume of 200 ml and a RR of 18/min.\nAfter the completion of surgery, which lasted 1 hour and there were no complications, the nitrous oxide and sevoflurane were discontinued, and the muscle relaxant was reversed with glycopyrrolate 0.2 mg and pyridostigmine 10 mg. We tried to wean her from the ventilator, but her recovery was slow and complicated by episodes of shaking. After 20 minutes, the patient began spontaneous breathing. The patient was then transferred to the PACU after her respiration was found to be adequate. She remained drowsy in the PACU and it took a full day for her to regain full consciousness. |
A 36-year-old woman presented with mastalgia and yellowish discharge from her right breast. She reported family history (maternal lineage) positive for cancer. Her mother was diagnosed with BC at 33 and died, and maternal grandmother at 65 years, also from BC. Uncle who had been a smoker died of lung cancer at the age of 70. She has no other live relatives and siblings and has one 3-year-old son. Radiologic imaging found no suspicious lesions in the breast nor enlarged lymph nodes but showed solitary mediastinal mass which was surgically removed. Patohistological examination revealed fibrous tumor with increased mitotic activity, positive for CD34 and STAT6 by immunohistochemistry staining (Fig. ). Both tumors/breast cancer and solitary fibrous tumor have stained negative for p53 protein.\nNo further treatment was indicated and after 4 years of follow-up, a lesion in the upper left quadrant of the right breast was discovered. Needle biopsy suggested a luminal B-like invasive BC so she underwent mastectomy and axillary dissection. Surgical pathology specimen showed pT1bN1 grade 3 carcinoma (ER 100%, PR 80%, Her2 negative, Ki 67 26.5%, micrometastasis in 1 out of 11 lymph nodes).\nFour cycles of adjuvant treatment with doxorubicin and cyclophosphamide was administered followed by radiotherapy and tamoxifen with ovarian function suppression. The testing for BRCA1/2 was carried out and found no mutations.\nOne year later, during preoperative evaluation for breast reconstruction surgery, 4 pulmonary nodular lesions were discovered on chest computed tomography (CT) scan. A CT-guided biopsy of one of the suspected metastases was performed and pathohistological examination was consistent with metastasis of malignant fibrous tumor. Tamoxifen was switched to exemestane due to its possible proliferative effect on fibrous tumor. Chemotherapy for stage IV sarcoma with temozolomide and bevacizumab was initiated given the prior anthracycline chemotherapy.\nIn the light of the two known malignancies, the patient was referred to genetic counseling and in contrast to prior BRCA1/2 gene testing only, the multigene panel testing was performed. For the testing purposes, DNA was isolated from peripheral blood using TruSight Rapid Capture commercial reagent kit (Illumina Inc.). DNA sequencing was conducted on a MiSeq sequencing platform (Illumina Inc.) with obtained data analyzed using the Variant Interpreter software (Illumina Inc.) and by searching the OMIM, ClinVar, HGMD, dbSNP, COSMIC, gnomAD, and 1000 Genomes databases. The above methods confirmed a germline single nucleotide variant: (c.1101-1G>A) in TP53 gene. She was found to be heterozygous for single nucleotide variant (c.1101-1G>A) affecting the acceptor splice site at intron 10 in TP53 gene, consistent with LFS. This sequence is submitted to ClinVar database, accession number SCV001161439. There were no live siblings for additional germline testing and a 3-year-old son is not permitted for testing without father’s permission according to Croatian laws.\nIn order to gain additional insight into the genetic and molecular profile of the tumor, a comprehensive genomic profiling (CGP) by a hybrid capture-based DNA sequencing platform was done from tumor tissue obtained from one of the pulmonary metastases. CGP performed by Foundation Medicine, Inc. identified two TP53 short variant events: Y163N at 19.4% allele frequency and splice site 1101-1G>A at 62.1% allele frequency. The report also revealed a microsatellite stable tumor harboring a relatively low mutational burden of 7 Muts/Mb associated with lower rates of clinical benefit from treatment with PD-1- or PD-L1-targeting immune checkpoint inhibitors [, ]. Furthermore, additional mutations in PTCH1 (subclonal), PDGFRB, and the NAB2-STAT6 fusion were confirmed as a somatic event in tumor tissue, none of which have reported therapeutic options with clinical benefit in patient’s tumor type. The list of genes tested has provided in the . |
A 33 year old male presented with decreased vision in the left eye and left sided headache of 3 months duration. Examination revealed left eye blindness with primary optic atrophy and no other neurological deficit. Imaging revealed a bony tumor in the left ethmoid sinus invading the left orbit and compressing the left optic nerve. Intracranial extension into the anterior cranial fossa on the left side was noted (Figure ). Core biopsy of the mass showed an osteoid osteoma.\nA multispeciality team approach was devised to achieve radical excision of the tumor. Bicoronal scalp flap and pericranial flaps were raised separately. A single burr hole left fronto orbital bone flap was raised including the orbital roof and left zygomaticofrontal process (Figure ). Dura was retracted and the bony hard whitish tumor visualised. This was excised using the high speed drill (Figure ). Weber Ferguson incision was used to access the orbital portion of the tumor. Medially the tumor could be felt in the orbit but retraction of the globe was difficult. Hence inferior orbitotomy was done by removing the lower and lateral orbital margins. The intraorbital contents could now be retracted laterally and the tumor visualized (Figure ). The tumor was then detached from the ethmoid sinus and the intraorbital extension excised. The ethmoidal portion was drilled and radical excision achieved (Figure ). Dural tears were covered with temporalis fascia and glue. The ethmoidal sinus was packed with free temporalis muscle graft. Vascularised pericranial graft was used to cover the anterior skull base. The frontal sinus was exenterated and packed with gelfoam. The bone flap and orbital margins were replaced.\nPost-operatively patient had a frozen left eye (possibly due to retraction of the orbital contents) with no improvement in the left eye vision in the immediate postoperative period. His postoperative period was otherwise uneventful. Histopathological examination revealed an osteoid osteoma (Figure ). On follow up after 12 months patient was disease free (Figure ). |
A 13-year-old boy was reported with pain in the right mandibular 2nd molar 3 weeks ago. Hard tissue examination revealed presence of deep dental caries in relation to the lower 2nd molar. The tooth did not respond to electric and thermal testing. Radiographic examination revealed deep pit communicating with pulp and presence of blunderbuss canals (). Apexification using MTA apical plug technique was opted.\nIsolation was done using rubber dam and access gained without local anesthesia. Accessible pulpal remnants were removed using barbed broaches. Apex locator produced inconsistent canal length reading so a check radiograph was used to confirm the actual working length (Figures and ). Minimum instrumentation using hand files was done under irrigation using 2.5% NaOCl and saline. Intracanal medicament, that is, Ca(OH)2 and iodoform combination dressing, was given. After 2 weeks the patient remained asymptomatic, the tooth was reaccessed, and canals were irrigated. The canals were dried with paper points and MTA was mixed according to the manufacturer's instructions and applied to the apical portion of canal.\nThe application of MTA was difficult for the posterior teeth due to poor visibility and less accessibility in terms of canal diameter and mouth opening when compared to the anterior teeth. Hence, very small increments were used to enhance precise placement over the apical portion. Initially, 25 gutta-percha cones were used to transfer it to the apical third followed by final condensation using small endodontic plugger. Repeated radiographs were obtained to check adequacy of MTA (). The blunt end of a large paper point was moistened with water and left in the canal to promote setting for 4–6 hours. A cotton pellet was placed in chamber and the tooth restored with temporary cement.\nAfter 4–6 hours, the tooth was isolated and accessed as before. A hand plugger was lightly tapped against MTA plug to confirm a hardened set. The canals were dried using sterile paper points and obturated using ZOE sealer and injectable thermoplasticized gutta-percha (). Final radiograph was obtained.\nAfter 8-month follow-up, a periapical radiograph was exposed and it revealed that continuity in lamina dura and consistent width of periodontal ligament space suggest healing of the periapical lesion (). |
A 63-year-old Taiwanese male presented with progressive bilateral lower limb edema, abdomen fullness, and dyspnea on exertion for 3 weeks. He had a medical history of hepatitis B virus-related cirrhosis with Child–Pugh class A liver function. An initial blood test revealed a significantly elevated hepatitis B viral load up to 45,400 IU/mL and a serum alpha-fetoprotein (AFP) level up to 6768.5 ng/mL, despite normal serum albumin, serum total bilirubin, and prothrombin time. Abdomen computed tomography (CT) disclosed a huge right lobe liver tumor up to 13 cm that was consistent with HCC enhancement patterns. Direct tumor invasions into the right portal vein, plus the middle and right hepatic veins, were detected, along with tumor thrombi within IVC and RA (A). Furthermore, a small metastatic lung nodule measuring about 1 cm at the right lower lobe was also identified.\nAnti-viral medication with Tenofovir was prescribed after the detection of a high hepatitis B viral load, and prompt surgical removal of IVC and RA thrombi was indicated after multidisciplinary discussion regarding the aggravating IVC obstruction-associated symptoms. The patient therefore underwent a cardiopulmonary bypass and median sternotomy, and RA was incised, with all IVC and RA thrombi excised en bloc under direct vision. Gross pathology examination revealed a cauliflower-like tumor, which was microscopically confirmed as poorly differentiated HCC. The patient’s symptoms were alleviated soon after surgery. As for treatment of the hepatic tumor, initial systemic treatment with sorafenib (400 mg twice daily) was given orally while localized treatment with hepatic artery infusion chemotherapy (HAIC) was also arranged concomitantly. The HAIC was a combination regimen consisting of cisplatin, mitomycin-C, and 5-fluorouracil, followed by lipiodol infusion before infusion catheter removal []. Mild skin eruption at his scalp was noted after sorafenib usage, which was treated with topical glucocorticoids and oral antihistamines. The skin eruption healed within 10 days.\nThe patient received five courses of HAIC over a period of 9 months, with a steady decline in serum AFP (). However, a progressive viable HCC from extrahepatic blood supply was noticed on follow-up CT, and drug-eluting bead transarterial chemoembolization (DEB-TACE) loaded with doxorubicin was performed via the right inferior phrenic artery. Despite remarkable liver tumor necrosis, declined AFP, and no residual tumor thrombi after the aforementioned treatment, progressive pulmonary metastases were later discovered (B), and sorafenib was thus switched to nivolumab (160 mg every 2 weeks, according to the dosage guideline of 3 mg/kg every 2 weeks) in order to control further pulmonary metastases. No adverse events related to nivolumab usage were observed. After eight cycles of nivolumab therapy, a complete response was finally achieved, with no viable HCC, pulmonary metastases, or tumor thrombi visible (C,D); serum AFP level also returned to normal at 3 ng/mL (). The patient continued with nivolumab therapy and has survived for 53 months since the initial diagnosis of advanced HCC; he has remained disease free for the past 33 months, until July 2021. |
A South Indian girl aged 14 years reported with her mother to the Department of Pedodontics and Preventive Dentistry with the chief complaint of loss of upper-left front teeth two days back due to a fall from the staircase and the girl was taken to a private hospital where she had been given medication for pain relief. The teeth were collected from the incident site and were stored in a plastic box and kept in the freezer by the parents. Health and family history were not significant. On examination, the face was bilaterally symmetrical with competent lips and no other injuries. Intraoral examination revealed permanent dentition except for missing left maxillary central and lateral incisors, unerupted permanent second and third molars and bilateral Class I molar relation and fair oral hygiene status. Examination of avulsed teeth showed intact crowns with closed apex. Intraoral periapical radiovisiograph was advised to check the integrity of alveolar socket [Figures –], and the diagnosis of avulsion was confirmed. The treatment planned was to replant the avulsed teeth after extraoral endodontic treatment followed by stabilization. As this was a case of delayed replantation, endodontic treatment was initiated before replantation.\nDebridement and sterilization of root canals with 2.5% sodium hypochlorite and the canals were filled with calcium hydroxide. A 2.4% acidulated sodium fluoride solution (pH 5.5) was applied to the roots of avulsed teeth for 20 min and both the teeth were replanted into their respective sockets with gentle digital pressure. Once the teeth were properly seated, they were checked for alignment in occlusion and were splinted to the adjacent teeth with a 0.5 mm rectangular stainless steel wire and acid-etch composite. Periapical radiograph was obtained to confirm proper positioning of the replanted teeth. Systemic antibiotics were prescribed for 7 days, dietary and oral hygiene instructions were given. The replanted teeth were obturated with gutta-percha after 1 week. When the splint was removed after 2 weeks, the maxillary left central was slightly extruded compared to the contra-lateral tooth. Regular follow-up visits were scheduled.\nAt 4 months recall, a periapical radiovisiograph revealed interdental bone loss with clinical mobility of implanted central incisor []. It was decided to extract the mobile tooth to prevent the residual alveolar defect in consultation with periodontist. After extraction, the site was sutured to enhance the healing process.\nThe extracted tooth was rinsed with normal saline and sectioning of the tooth was done in a horizontal plane at the level of the cementoenamel junction with a diamond abrasive disc. Remnants of gutta-percha points were removed and contouring of the crown was done with a flame-shaped bur. Etching of the pulp chamber was done using 37% phosphoric acid, followed by washing and drying for 15 s. Bonding agent was applied to the etched surface, and finally the access opening was sealed with light cure resin composite material.\nAfter suture removal and inspection of the site, a fast setting alginate (Tropicalgin®, Zhermack) upper impression was registered with segment trays and cast was made using dental stone to check for proper fit of the crown.\nA 0.010 in orthodontic ligature wire was taken and folded in the middle to form two strands, which were then twisted together. The required length of wire was cut checking on the cast so that it covers the right central incisor, left lateral incisor, and left canine. Extension of the wire on the left side was up to canine to prevent excess load of forces on the replanted left lateral incisor.\nA groove was made on the palatal surface of the prepared crown at the middle third with a straight fissure bur, ensuring that it would not interfere with occlusion. Then the ligature wire was fixed into the groove with the light curing flowable composite (Z350; 3M ESPE®). Trial of the crown was done in the desired anatomic position and the wire to be fixed onto the adjacent teeth was adapted passively to their lingual surface with the help of an orthodontic plier, occlusion was checked and then fixed with light curing composite resin [Figures and ]. Postoperative occlusion and aesthetics was checked and oral hygiene instructions were reinforced and she was advised soft diet for 1 week. Strict instructions to avoid biting with front teeth were given. The patient is still under review and regular follow up is required to monitor the status of the replanted left lateral incisor. First recall appointment was made 2 weeks later and a periapical radiovisiograph was taken []. |
A 14-year-old black boy was attended, through a collaborative program supported by a not-for-profit program, at Dental & Oral Department in Soweto General Hospital –Arusha - (Tanzania). The chief complaint was a growing mass on the floor of the mouth for more than one year, which increased in size in the last weeks (Fig. ). The lesion was asymptomatic although its considerable size had a potential to affect speech, mastication and even displacement of the neighbouring teeth. The patient referred a previous toothpick traumatic injury where the lesion appeared. There was neither past dental nor medical history of note.\nThe oral examination confirmed a rather good dental hygiene without caries or periodontitis. Only occasional slight bleeding was registered on the periodontal charting. No dental mobility was noted and dental vitality was normal. There was not any palpable submandibular adenopathy either.\nAn exophytic kidney-shaped lesion with a lobular contour and a glossy gray to reddish-purple surface measuring 25 to 30 mm in diameter was located in the anterior lingual right jaw, inserted through a pedunculated base on the keratinized mucosa also involving the mucogingival line (Fig. ). The mass was painless on palpation with a smooth compressible surface but with certain firm doughy consistence. A routine periapical radiograph showed normal alveolar bone trabeculation without root resorption.\nA conservative surgical excision of the lesion was planned. After local anaesthesia, the pedunculated mass was completely excised through the base of the lesion. A careful management of the lesion was performed while preserving the mucogingival complex. The underlying tissue was curetted to prevent recurrence of the lesion before suturing. Antibiotics and analgesics were prescribed for one week. After the excision of this pedunculated mass, a light and asymptomatic tumefaction was clearly evidenced on the right sublingual area probably related with the compressive effect on the right salivary duct (Fig. , ). This swelling disappeared in a week after surgery.\nThe excised tissue was submitted for histopathological analysis. Histopathology showed a highly vascular proliferation, with blood vessels organised in lobular aggregates, consistent with lobular capillary hemangioma. At low magnification each lobule is surrounded by a thin collagen layer. At a higher magnification the small capillary endothelial-lined spaces are surrounded by a perithelial or pericytic layer of cells. Chronic inflammatory cells are consistently present throughout the edematous stroma. The final pathological diagnosis based on the microscopic findings was a pyogenic granuloma-lobular capillary hemangioma (Fig. , ).\nWith the diagnosis of PG the patient and his mother were questioned again about any previous oral wound. A toothpick injury in the same area where mass appeared, was confirmed.\nThe patient was monitored postoperatively and two years later, the gingival tissue and the adjacent alveolar mucosa were healthy with successful healing without recurrence. |
A 66-year-old woman presented to the surgical outpatient clinic with a 2-month history of bright red rectal bleeding and intermittent diarrhoea. No history of weight loss, foreign travel or dietary change was reported. She suffered from hypertension but had no other comorbidities. She took amlodipine daily and did not drink alcohol or smoke. No significant family history was elicited.\nPhysical examination was unremarkable, and routine blood tests were normal. A flexible sigmoidosopy however demonstrated mild–moderate inflammation from the rectum to the rectosigmoid junction, and biopsies taken showed features consistent with moderately active UC (see ). The patient was subsequently started on oral and topical 5-aminosalicylic acids (5-ASAs), but in the following months, her UC worsened and her liver function tests began to rise. Within a year after first presentation, oral steroid therapy in combination with 5-ASAs failed to control the patient's UC, and she was admitted urgently to hospital and referred to the gastroenterology department. However, despite intravenous steroids, antibiotics and ciclosporin rescue therapy, the patient's condition worsened. Her care was transferred back to the surgical team, and a subtotal colectomy with loop ileostomy was performed.\nThe subtotal colectomy was successful, and no complications of the surgery were experienced. However, shortly after discharge from hospital, the patient began to experience right upper quadrant pain and her liver function tests remained persistently raised. At this point, the surgeons referred the patient to a hepatologist for an opinion. PSC was suspected, and a full serological work up for liver disease was performed. This demonstrated antiproteinase 3 antibody (cANCA) positivity only, and the rest of the serological panel was negative. An oesophagogastroduodenoscopy was performed and duodenal biopsies taken, both of which were reported as normal. A magnetic resonance cholangiopancreatography (MRCP) demonstrated a gallstone in the neck of the gallbladder, but no features of cholangiopathy were observed. Given the negative pANCA result, normal biliary tree on MRCP and the patient's reluctance to have a liver biopsy following recent surgery, it was concluded that the cholestatic liver function tests were most likely due to gallstone disease. However, a repeat MRCP to exclude the progression of cholangiopathy was scheduled for 6 months time.\nOver the next few months, the patient was referred to a dermatologist after she developed a violet rash near the site of the stoma and over her left lower limb. A punch biopsy was performed on the lesion on her lower limb, and the features of pyoderma gangrenosum were observed, see (panel A). Subsequently, the repeat MRCP demonstrated a “double duct sign” (), but further CT imaging and endoscopic ultrasound ruled out a pancreatic lesion. Other causes for the double duct sign were not found in our investigations, and IgG4 disease was also excluded (normal IgG4 levels and no IgG4-positive plasma cells seen on biopsies). After discussion at a hepato-pancreatobiliary specialist multidisciplinary meeting, the patient was referred for a liver biopsy as the clinical suspicion for PSC was high, and the patient's liver function tests were persistently elevated. The liver biopsy was performed uneventfully, and features of PSC were noted, see (panel B). The patient was treated with ursodeoxycholic acid (UCDA), however, this made little improvement to her cholestatic liver function tests.\nWithin the same year, the patient was seen in surgical outpatient clinic as a postoperative follow-up. She continued to suffer from ongoing inflammation in the rectum and remnants of the sigmoid colon (rectal stump) despite maximal medical treatment. Importantly, there were no symptoms or clinical evidence that suggested backwash ileitis. As a result, the patient opted for a total proctectomy with ileoanal pouch anastomosis. This was performed once again uneventfully, however, a few months later, the patient represented with symptoms of bowel obstruction. She then proceeded to have a laparotomy for a reversal loop ileostomy and adhesiolysis at site of ileoanal anastomosis. Interestingly, by this point, it was noted that the patient's liver function tests had improved significantly ().\nThe patient was eventually discharged from hospital and she continues to be monitored by the gastroenterology department. Notably, 2 years after her panproctocolectomy her liver function tests normalised. and she has remained asymptomatic. She remains reluctant to have further liver biopsies, but serial imaging of her liver and biliary tree to date have demonstrated complete resolution of the double duct sign and no evidence of chronic liver disease or portal hypertension that would suggest progression of PSC. |
A 66-year-old male who underwent a repeat knee prosthesis surgery developed pain and swelling at the operative site shortly afterwards with fever and elevation of the white blood count to 13,700. For the treatment of Staphylococcus warneri isolated from the operative site, intravenous antibiotics were given, with vancomycin started initially at a dose of 1.25 gm q8 hours, but then switched to a combination of Nafcillin 2 grams 18 hours IV, plus piperacillin/tazobactam 4.5 grams q6h IV. Shortly after starting this regimen, the patient noted the onset of random myoclonic jerks of the extremities, which would be an isolated limb but at other times be all four limbs at once as a single isolated myoclonic jerk. In addition, the patient reported something is wrong with my time clock and felt surprised that long periods of time had passed, and also had a spell of getting up to go to the bathroom, and feeling there was a gap in time. Approximately 40 random myoclonic jerks were estimated to occur over the course of each day of the six week course of the nafcillin/piperacillin combination by the patient and his wife, who stayed in the room, and noticed random jerks of the extremities also during sleep, which would awaken the patients at times. Electrolytes were stable with a sodium of 140 on the first day of myoclonic jerking with potassium normal at 3.8, calcium normal at 8.9, and magnesium normal at 2.10. A non-contrast computed tomography of the head was negative (). Past medical history was negative for any neurological problems, and there was no personal or family history for seizures or myoclonic jerks. Neurological exam revealed the patient to be fully oriented with accurate 4 of 4 complex object recall at 5 minutes, with normal deep tendon reflexes and normal muscle tone and strength. The patient reported complete cessation of the myoclonic jerks after discontinuation of antibiotics, and has been free of this problem afterwards. |
A 17-year-old boy of short stature was transferred to the trauma department after being attacked by a dog. He suffered extensive bites to the left lower extremity as well as the penis. The patient's heart rate fluctuated between 45 beats per minute (bpm) and 63 bpm; his blood pressure was 98 mmHg systolic and 67 mmhg diastolic. Upon admission, he was found to be profoundly hypothyroid with a thyroid-stimulating hormone of 483 μIU/mL and a total thyroxin of 0.46 μIU/mL. The patient's medical history was significant for congenital hypothyroidism, and he reported to have discontinued thyroid replacement therapy at the age of nine. An X-ray of the boy's hand and wrist revealed a bone age between 10 and 11 years. Throughout the patient's stay he demonstrated intermittent episodes of bradycardia (50 bpm) and hypotension (70 mmHg/40 mmHg). The patient was also discovered to have a mild to moderate pericardial effusion on transesophageal echocardiogram, presumably a sequela of the patient's untreated hypothyroidism.\nUpon examination, the patient was found to have an avulsion injury of the penis. Additional superficial lacerations were noted at the left thigh and over the symphysis pubis. The patient was taken to the operating room after the initial assessment. The penis was noted to be intact while the skin was entirely degloved. The skin covering the scrotum was intact (). The presumably viable skin was rolled up to the head of the penis. Once unrolled, it was noted that the urethra was completely intact with no blood at the meatus. The skin was stretched the entirety of the penis to the base and reapproximated with interrupted sutures. Although there was no tension observed, the skin was reapproximated loosely to allow for some drainage due to the high risk of infection associated with dog bites. The superficial wounds to the thigh and pubis symphysis area had no penetration to the muscular fascia and were irrigated, debrided, and packed. Standard rabies postexposure prophylaxis was initiated at this time.\nIn the week following the repair, the penis remained edematous and a Foley catheter was left in place to prevent the urethra from closing shut. The dorsal aspect of penile skin blistered and necrosed; while the ventral aspect of the repair adhered well and appeared viable. The necrotic aspect of the penis was allowed to demarcate (), which allowed for a specific debridement of the nonviable tissue ().\nIn the days following the dorsal debridement, the patient was taken to OR for graft repair with plastics. The penis remained swollen at the time of the operation, which was beneficial as it simulated an erection and allowed for a graft that would accommodate expansion. The wound was again irrigated and debrided, and a FTSG repair was performed (). Right inguinal crease was used as the donor site, and the two edges were approximated leaving no area of exposure. |
The mother was a 24-year-old primigravida with twin gestation (monochorionic diamniotic) of spontaneous conception. An ultrasound examination at 20 weeks of gestation showed TTTS, and hence, laser photocoagulation of placental vascular anastomoses was done. Postprocedure, the donor fetus developed hydrops fetalis and the recipient fetus showed a high middle cerebral artery peak systolic velocity. Subsequently, the donor fetus showed ventriculomegaly on neurosonography though hydrops had significantly reduced. Both twins developed polyhydromnios possibly giving the diagnosis of twin reversed arterial perfusion sequence. Bipolar cord occlusion of the donor twin was done as per the parents' decision. Thereafter, the recipient twin showed calcifications in ascending aorta and proximal portion of the pulmonary artery with high-velocity flow in both vessels on fetal ultrasonography. Pericardial effusion was consistent and persisted throughout the entire gestation. Fetal echocardiography of the recipient twin showed hyperechogenicity in the root of the pulmonary artery and aorta, excluding the valves and extending beyond the sinotubular junction in the aorta. The antegrade flow was seen across pulmonary artery and aorta with high velocity, and also calcifications were noted in the distal descending aorta. Institutional delivery was advised and regular monitoring was carried out till delivery. Baby was delivered by cesarean section at a gestational age of 32.1 weeks, with the weight of 1840 g.\nSerum calcium was 9.4 g/dl with ionic calcium of 1.18 mmol/L. Chest X-ray was unremarkable. Neonatal echocardiography was performed in the Neonatal Intensive Care Unit (NICU), which showed calcification of the main pulmonary artery and descending thoracic aorta with a maximum gradient of 10 mm Hg, a small patent ductus arteriosus, and a patent foramen ovale. Serial echoes showed no increase in the flow velocities across the great vessels. Cardiac computed tomography showed calcification of the great vessels (both aorta and pulmonary atery). There were no calcifications elsewhere in the body.\nGenetic studies for Idiopathic Arterial Calcification of Infancy (IACI) were negative. Initially, bisphosphonate was planned as therapy but was withheld in view of no progression of calcification or deterioration of clinical status. The neonate was closely monitored in the NICU and discharged with a good weight gain on day 25 of life. The baby has been asymptomatic and follows-up regularly with blood pressure monitoring. Following Figures and shows calcifications in descending aorta and pulmonary artery while shows cardiomegaly in fetal heart. |
Eleven years ago, a 46-year-old white man presented with painless jaundice. He showed no other symptoms and had no risk factors such as high alcohol consumption or tobacco smoking. With a bodyweight of 73 kg and a height of 175 cm his body mass index (BMI) was 24.49 kg/m2 at the time of presentation. His mother had colorectal cancer otherwise there was no family history.\nAn endosonography showed an intraluminal polypoid tumor with disintegration of all wall layers at the bifurcation of his bile duct system. The finding was confirmed by endoscopic retrograde cholangiopancreatography (ERCP). Biopsies were taken with the pathologic results coming back inconclusive.\nComputed tomography showed an intrahepatic cholestasis and two hypodense lesions in segment VIII of his liver. It showed no signs of metastasis or other unknown pathologies. The analysis of serum tumor marker carcinoembryonic antigen (CEA) was negative and cancer antigen (CA) 19-9 was found to be elevated at 75 kU/l (<37 kU/l).\nHe was treated with right liver lobectomy with resection of the bile duct directly distal of his pancreatic head, resection of the bile duct of his left liver lobe up to the first intersection, and with a regional lymphadenectomy. The reconstruction was performed by biliodigestive anastomosis with Roux-en-Y hepaticojejunostomy. A bile duct drain was inserted in the dorsal bile duct of his left lobe and closed on day 10 after contrast imaging of the anastomosis. Postoperatively, he recovered well. On the planned day of discharge he developed an aphasia leading to further diagnostics, which showed a transitoric ischemic attack of his left-brain hemisphere. He was transferred to neurology and fully recovered.\nA gross examination showed a right hemihepatectomy with a 4×2×2 cm polypoid tumor in his right hepatic bile duct extending into the bile duct junction (mainly intraductal growth type). The liver parenchyma was non-cirrhotic and prominent portal tracts were seen. Resection margins were free of tumor.\nHistologic examination revealed an intraductal tumor with tubular and papillary and solid growth pattern. There was a stromal invasion into the ductus hepaticus dexter. In the portal tracts intraductal tumor growth without stromal invasion was found (Fig. ). According to TNM classification the tumor staging was pT1 pN0 (0/4) M0 R0, G2.\nThe same patient presented 2 years ago at the age of 55 with a mass of 1.8×2.4 cm at the papilla of Vater. The mass was detected via magnetic resonance imaging (MRI) during a regular cancer follow-up. In the meantime he had developed an arterial hypertension that was well controlled with ramipril 5 mg once daily. On admission he reported no weight loss, no fever, no sweating, and no signs of icterus or pruritus. His clinical examination was without any pathological finding.\nContrast sonography showed a hypertrophia of his left liver lobe with status post-right hemihepatectomy and no pathological findings. Computed tomography showed a dilatation of the residual common bile duct and normal size pancreatic duct and a contrast enhancement next to the papilla of Vater leading to the suspicion of an intraductal tumor. There were no signs of metastasis (Fig. ).\nOn macroscopic examination, an ERCP supported the suspicion of an adenocarcinoma in his distal residual common bile duct. The pathology of the biopsy came back positive for an adenocarcinoma. An analysis of serum tumor markers (CA 19-9, CA 72-4, CA 125, and CEA) showed no elevation.\nHe was treated with a pylorus-preserving resection of his pancreas head and his duodenum. Postoperatively, he recovered well. Oral nutrition with low amounts of fluids were started on day 1 and escalated up to solid food on day 5. He was discharged on day 14. A 6 French pancreatic drain that was placed intraoperatively was removed on day 30 during an ambulatory visit.\nIn addition, he received adjuvant chemotherapy with gemcitabine (1000 mg/m2 at day 1, 8, and 15 every 4 weeks) as monotherapy. Chemotherapy was planned for 6 months but discontinued after 3 months due to head aches and weight loss. As of April 2016, there are no signs of tumor recurrence during follow-up.\nA pancreatoduodenectomy was performed and on macroscopic exploration there was a 1×1×1 cm tumor at the ampullary region involving his common bile duct. Histologic examination revealed a tubular and papillary growth pattern (Fig. ). The tumor was similar to the tumor described in his case of pCCA. On immunohistochemistry, the tumor cells expressed cytokeratin (CK) 7 and CA 19-9. The resection margins were free and the tumor was staged as pT2 pN0 (0/14) R0, G2.\nTargeted next-generation sequencing (NGS) was performed on formalin-fixed paraffin-embedded (FFPE) samples of both cases as described before []. Isolated DNA (<0.5 to 97.6 ng/μl) was amplified with an in-house specified, customized Ion AmpliSeq Primer Pool. The panel comprises amplicons of 12 different genes. Polymerase chain reaction (PCR) products were ligated to adapters and enriched for target regions using the Ion AmpliSeq Panel™ Library kit according to the manufacturer’s instructions (Life Technologies). The generated libraries were equimolar pooled for amplicon sequencing to a concentration of 20 nM of each sample to counterbalance differences in sample quality. Sequencing was performed on an Illumina MiSeq benchtop sequencer (Illumina, San Diego, USA). Results were visualized in the Integrative Genomics Viewer (IGV) and manually analyzed. A 5 % cutoff for variant calls was used and results were only interpreted if the coverage was >100. Both tumors were analyzed as described and the results are shown in Table . An identical activating mutation of the PIK3CA gene exon 20 was found in both tumors. |
A 42-year-old HIV-infected female patient, born in and resident of Rio de Janeiro State, Brazil, was admitted to our hospital in August 2015 because of a rapidly growing painful mass in her left shoulder, first noted 4 weeks previously. She also complained of two additional smaller masses over the left eyebrow and right orbits, first noted 3 weeks earlier. The patient was first seen at our outpatient unit in May 2006 due to a diagnosis of HIV infection made in 2003. She had a history of illicit drug use (cocaine). Between 2006 and 2015, she was offered several highly active antiretroviral therapy (HAART) regimens but proved to have poor adherence to treatment. Her current prescribed regimen was lamivudine, tenofovir, atazanavir, and ritonavir. Between 2006 and 2015, the CD4 cell count dropped from 144/mm3 to 48/mm3 and all 6 plasma viral load measurements yielded very high values (range: 5.4 to 6.7 log), which is suggestive of nonadherence. On examination, the patient appeared to be chronically ill and was oriented and with conjunctival pallor. Vital signs were normal. presents the laboratory data on admission. During the ensuing 20 days of hospitalization, she experienced a dramatic, fast growing enlargement of bilateral orbital, eyelid, and frontal masses (). A computed tomography (CT) of the head showed bilateral orbital and frontal masses with osteolytic lesions. The right orbital tumor had infiltrated the optic nerve. An abdominal CT scan revealed hepatomegaly with multiple lesions on the liver parenchyma. Similar lesions were also present on the left kidney, with cortical involvement. Tumors were also evident in the mesenteric lymph nodes. Bone marrow examination was normal. A biopsy of the right orbital mass was consistent with a diagnosis of Burkitt's lymphoma (). Immunohistochemistry studies showed positive staining for CD45 (leukocyte common antigen), CD20, and CD10 markers and Ki-67 > 95%, which are expected in Burkitt's lymphoma and reflect the aggressive nature of stage IV B-cell lymphoma. In situ hybridization testing for c-myc translocation was not performed. Chemotherapy with EPOCH (etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin) and filgrastim was started. Her clinical condition, however, worsened. The total white blood cell count dropped to 50/mm3 and the patient eventually died of respiratory failure five days later. |
A 32-year-old, nonsmoker, systemically healthy man presents to our clinic with the chief complaint of an opening at the extraction site of the upper right first molar (). The extraction had been performed more than 3 months previously, and since that time, the patient could not eat properly because the food would exit from his nose. Radiographs were taken, and a diagnosis of chronic OAF was acquired (). The patient was advised to undergo surgery to close the opening and eliminate the communicating tract between the oral and nasal cavities. A written and informed consent form was obtained from the patient for surgery and publication of the data. Under local anesthesia, a three-sided flap was created; the bone was then exposed, and a large bone defect (greater than 5 mm) was found (). The soft tissue tract was removed, and bone curettage was performed with a spoon excavator and a round bur drill. Slow-resorption collagen membrane extracted from bovine tendon containing collagen type I (Genoss, Gyeonggi-do, South Korea) was used to cover the bone defect and was fixed in place with nylon suture (). PRF was prepared after blood was withdrawn from the patient (40 mL) and centrifuged for 14 minutes at 1,500 rpm. A PRF clot was isolated from the middle part of the test tube between the red blood corpuscles at the bottom and the platelet-poor plasma at the top; the PRF clot was filtered from the plasma in the form of a thin membrane. The PRF clot was placed above the collagen membrane in two layers (). Periosteum scoring was performed with flap release. Primary closure of the tension-free flap was performed with 4/0 nylon suture. Horizontal and vertical mattress suturing was performed with interrupted stitches between layers (). The patient was given antibiotics (amoxicillin/clavulanate 625 mg, metronidazole 500 mg) and an analgesic (ibuprofen 400 mg). The patient was instructed not to use straws or blow his nose and to open his mouth during sneezing. The patient was followed up 1 week after surgery, and he reported no pain or discomfort during eating and drinking. At 2 weeks, the wound matured, and signs of inflammation had disappeared; the sutures were partially removed (). On the third week, the sutures were completely removed. Gingival overgrowth and an increase in thickness were observed when the patient returned for further follow-up at 6 weeks after surgery (). |
A 72 year-old Caucasian female presented with a palpable left breast mass. Clinical exam revealed a 4 cm palpable mass in the left subareolar region and a 2.5 cm palpable left axillary mass. These findings were confirmed on mammography and ultrasound. An ultrasound-guided 14-gauge core biopsy was performed to both the left breast mass and the left axillary mass. Both core biopsies revealed poorly differentiated invasive ductal carcinoma. CT scan of the chest, abdomen, and pelvis showed a left breast mass, a left axillary mass, generalized atherosclerotic disease, and several subcentimeter hepatic cysts, but no evidence of intrathoracic, intraabdominal, or intrapelvic metastatic disease. Whole body bone scan showed no osseous metastatic lesions.\nOn the day of surgery, the preoperative clinical PET/CT demonstrated a solitary hypermetabolic lesion within the left breast with a peak SUV of 14.2 and a solitary hypermetabolic lesion in the left axilla with a peak SUV of 6.6 (Figure ).\nThe patient was subsequently taken to the operating room. Intraoperative verification of tumor location within the left breast and left axilla was performed by palpation and by handheld gamma probe detection. The patient then underwent a left modified radical mastectomy, including a standard left axillary level I and II lymph node dissection. Post-resection, the surgical bed was again evaluated by handheld gamma probe detection and was found to have no activity above background. The entire resected specimen was re-imaged by specimen PET/CT and revealed two hypermetabolic foci, representing the primary breast tumor and the solitary axillary metastasis (Figure and ).\nPostoperatively, the patient recovered uneventfully in the PACU. She was subsequently taken to the radiology department and re-imaged with PET/CT scan, demonstrating complete resection of the primary breast tumor and solitary axillary metastasis, and no residual hypermetabolic foci were identified (Figure ).\nPathology revealed a 4.5 cm poorly differentiated invasive ductal carcinoma with lymphovascular invasion and negative surgical margins (all greater than 1 cm). Only one of 23 left axillary lymph nodes was involved with metastatic disease (representing the lowest lying lymph node within the left axillary dissection portion of the specimen). This solitary lymph node metastasis measured 2.4 cm in size and there was no evidence of extranodal extension. The primary breast tumor was negative for estrogen receptors (ER) and negative for progesterone receptors (PR). The primary breast tumor was negative for Her2neu by both immunohistochemistry and fluorescence in-situ hybridization (FISH). |
A 22-year-old man was being referred to our hospital due to hemoptysis. He experienced hemoptysis 16 months ago. The non-contrast outside chest computed tomography (CT) missed the anomaly thereafter. Otherwise, his past medical history and family history were not remarkable. Physical and laboratory findings were within normal limits. A chest radiograph demonstrated no active lung lesions. Chest CT with contrast enhancement showed a ground-glass attenuation and consolidation in the right lower lobe posterior basal segment and a large anomalous artery from the distal descending thoracic aorta supplying basal segment of right lower lobe (). The diameter of the feeding artery was about 10 mm. Bronchoscopy revealed that the major bronchial branches were normal and at the right 2nd carina there were bleeding evidences and woozing on saline washing (). Angiography showed about 10 mm diameter feeding artery to basal segment of right lower lobe, enlarged arteriovenous vessels and draining vein. On diagnosis of anomalous systemic arterial supply to the basal segments of right lower lobe from descending aorta without sequestration, the therapeutic embolization was performed with Amplatzer Vascular Plug (two 12 mm; AGA Medical, Golden Valley, MN, USA) ().\nAfter the embolization, the patient suffered from fever. At 2 days after embolization, chest X-ray revealed hazy and nodular opacities at right lower lobe (RLL). With a suspected diagnosis of post-embolization syndrome with pneumonia, the patient was prescribed to empirical antibiotics. Although the fever subsided 5 days later, his chest X-ray showed pleural effusion in the right lung (). A diagnostic thoracentesis revealed amber colored fluids, which was found to be neutrophil-predominant exudates. At 14 days after the antibiotics application, he was discharged when symptoms and conditions had improved, but pleural effusion sustained. Twenty-two days later, his chest CT revealed vascular plugs, anomalous systemic artery from distal descending aorta, together with decreased size of subsegment veins, posterior subpleural consolidation, RLL that seemed pulmonary infarction and mild right pleural effusion. After 1 month of follow-up, chest X-ray indicated no lung lesions.\nHe recovered well after embolization for 2-year follow-up without complications (). |
A 52 year-old Caucasian female was originally diagnosed with poorly differentiated invasive ductal carcinoma (pT1c, negative for ER and PR, positive for Her2neu by immunohistochemistry, pN0) of her left breast six years prior to her current presentation. She underwent a left breast lumpectomy, left axillary lymph node dissection, four cycles of postoperative Adriamycin and Cytoxan chemotherapy, and postoperative radiation therapy.\nThree years prior to her current presentation, she developed numerous liver metastases and a markedly elevated CA 15-3 at 952 U/mL (normal range 9 to 42). She received six months of Taxotere and Herceptin. Her CA 15-3 decreased into the range of 35 to 40 U/mL and her numerous liver metastases regressed. Due to Taxotere toxicity, she was thereafter maintained on Herceptin alone for the next 18 months. However, 17 months prior to her current presentation, CT scan of the abdomen demonstrated a new left hepatic lesion and brain MRI revealed a solitary 9 × 5 mm enhancing left cerebellar lesion. Gamma knife radiosurgery was successfully performed to the left cerebellar lesion. She was subsequently maintained on Herceptin until 13 months prior to her current presentation when she was noted to have progression of the solitary left hepatic lesion. At that time, she was restarted on combination Taxotere and Herceptin. She did well until more recently when being noted to have a slight rise in CA 15-3 to the 45 to 55 U/mL range. Brain MRI was stable with no lesions. 18F-FDG PET/CT scan showed a solitary hypermetabolic left hepatic lesion.\nOn the day of surgery, the preoperative clinical PET/CT demonstrated a solitary hypermetabolic lesion in the left lobe of the liver with a peak SUV of 17.6 (Figure ). The patient was subsequently taken to the operating room. Intraoperative verification of tumor location within the left hepatic lobe was performed by visualization, palpation, and handheld gamma probe detection. The patient then underwent a left lateral segmentectomy of the liver (Figure ). Post-resection, the surgical bed was again evaluated by handheld gamma probe detection and was found to have no activity above background. The entire resected specimen was re-imaged by specimen PET/CT and revealed a single hypermetabolic focus (Figure ).\nPostoperatively, the patient recovered uneventfully in the PACU. She was subsequently taken to the radiology department and re-imaged with PET/CT scan, demonstrating complete resection of the hypermetabolic hepatic metastasis, and no residual hypermetabolic foci were identified (Figure ).\nPathologic evaluation revealed a 3.7 cm carcinoma, with negative surgical margins. The malignant cells were positive for cytokeratin 7 and Her2neu (by FISH) and were negative for cytokeratin 20, ER, PR, BRST-2, and chromogranin. |
A 44-year-old man consulted on pain affecting his left leg. His previous medical record was uneventful with no previous hospital admissions or surgical interventions. The patient reported no weight loss and had no other symptoms rather than pain, which had progressively worsened in the last 2 months and prevented the patient from sleeping at night. The physical examination was unremarkable, but the MRI performed showed a huge soft tissue mass, affecting the adductor muscles of the left thigh and measuring 30 × 20 cm. Radiological diagnosis were liposarcoma or haemangioma. An incisional biopsy of the mass revealed a diffuse growing neoplasm. The predominant areas were of myxoid nature (Figure ), but there were also foci of round less-differentiated cells (Figure ). Immunohistochemistry showed a positive reaction for S100 protein, while the other markers (for muscle, vascular and epithelial differentiation and also p53 protein) were negative. The extension imaging study including CAT showed no evidence of metastasis and with the histopathological diagnosis of myxoid/round cell liposarcoma the patient underwent amputation of his left leg at the hip level, 15 days after the incisional biopsy. During the postoperative period of the first surgery he suddenly developed intense pain in his right leg, which he had not reported before. Physical examination revealed a 7 cm soft mass in the right hamstring and a core needle biopsy showed a tumour with the same histopathological features as those found in the left leg. The patient refused surgery and he underwent local radiotherapy of the mass. One year after initial diagnosis the routine follow-up CAT revealed a huge retroperitoneal mass suggestive of adipose origin. Chemotherapy was initiated with iphosphamide, adriamycin and DTIC with apparent stabilization of the mass. The general situation of the patient gradually worsened and he died with persistence of the retroperitoneal disease 23 months after initial diagnosis. No autopsy was allowed. |
A 51-year-old male was admitted to the hospital after a chest trauma caused by ironware which fell from the tractor. He presented with chest pain and difficulty in breathing.\nUpon the arrival, his vital signs were normal, and the chest radiograph revealed fractures of the right 2nd to 4th and left 1st to 6th ribs, accompanied by a hemopneumothorax. A closed reduction and lung suture were performed immediately. CT revealed a diffuse air in thoracic epidural space, but there were no clinical symptoms. Therefore conservative treatment was conducted ().\nAfter the surgical procedures, the patient complained of dysuria, dyschezia, and motor weakness and numbness in the both lower limbs. On the physical examination, the muscle tone of the upper limbs were normal, hypertonia was observed in the lower limbs, the deep tendon reflex was increased in the knee and ankle joints, and ankle clonus was exhibited on both ankle. Through these observations, an upper motor neuron lesion was suspected.\nAccording to the manual muscle test, the muscular strength of both upper extremities was normal, and there was no difference in muscular strength between the lower limbs. The flexor/extensor muscles of the hip decreased to 4/5, and the flexor/extensor muscles of the knee joints and the flexor muscles of the instep/sole decreased to 3/5. These explain why the patient felt awkward while standing up and while walking. Consequently, the distance the patient was able to walk significantly decreased. According to the neurologic examinations, he showed hypoesthesia and muscle weakness from the dermatomere of T3, but anal constrictions could be performed voluntarily. Based on the motor and sensory nerve function, T2 in paresis was neurologically damaged. This is classified by the American Spinal Injury Association Impairment Scale as grade D, motor incomplete. From the thoracic magnetic resonance imaging (MRI) findings, the volume of air was reduced but the focal high intensity was observed in the T2 area ().\nElectrodiagnosis was performed 4 weeks after the injury. The conduction test of the motor and sensory nerves showed a normal latency and amplitude in both lower limbs, and the latency bulbocavernosus and H-reflex in both sides were normal (). Measurements of the motor evoked potential at both abductor hallucis muscles were done by stimulating the head (), and the somatosensory evoked potential for both tibial nerves () revealed a delay in the transcranial area. In the needle electromyographic test, a high level of abnormal spontaneous activity was observed in the paravertebral muscles and lower limb muscles from the T3 to S1 segments, which reveals the complications of incomplete thoracic myelopathy and thoracolumbar radiculopathy ().\nIn the hospital, the patient was enrolled in a rehabilitation program for exercising to strengthen the muscles of the lower limbs, stimulating the functional nerve roots, training for standing up, and receiving gait training. During this period, he complained of the residual urine and dysuria. Therefore, behavioral management, clean intermittent catheterization, and chemotherapy were applied for easing the urination. Two months after the injury, the manual muscle test on the hip joint flexor, knee joint extensor, and instep flexor muscles revealed the score of 5/5, whereas the hip joint extensor, knee joint flexor, and sole flexor muscles revealed a score of 4/5. The patient could walk long distances with ease, including the standing up. After discharge, he returned to his normal daily life and he is under continual observation. |
A 54-year-old male patient was referred to the emergency room with epigastric pain, dyspnea, fatigue over the last 13 days, and intermittent fever. His medical history included hypertension and dyslipidemia. At admission, he was in good general condition, afebrile, and tachycardic. The abdomen was tender on the right hypochondrium, but no signs of peritoneal irritation or visceromegaly were present. Acute cholecystitis was the initial diagnostic hypothesis.\nThe initial laboratory investigation showed leukocytosis with left shift, elevated inflammatory markers, increased hepatic enzymes, and negative serology ().\nThe contrast-enhanced abdominal and pelvic computed tomography scan (CT scan) showed a hypodense and septated lesion in the hepatic segment V with peripheral enhancement, consistent with a liver abscess and with an estimated volume of 60 ml (). He was hospitalized and promptly treated with intravenous saline, antibiotics (ceftriaxone + metronidazole) as the clinical status worsened.\nOn the second day, the clinical status improved. There was defervescence of fever and complete improvement of the abdominal discomfort, which was well evidenced in the initial five days of hospitalization. Abdominal ultrasound demonstrated a slightly thickened gallbladder wall with a 10 mm gallstone; meanwhile, it was not impacted in the infundibulum, generating doubt about the initial diagnostic hypothesis. Clinical and expectant treatment was maintained.\nOn day 6, a control CT scan showed an increase in the lesion volume (264 ml). Due to the unavailability to perform percutaneous drainage, the laparoscopic approach was performed. The procedure disclosed a thickened gallbladder wall, adhesions, and a hepatic bulging close to the gallbladder bed. After the release of adhesions, the abscess was drained – a thin and elongated foreign body of approximately 4.1 cm, resembling a rosemary twig (), was found and removed from inside the liver abscess cavity (liver segment V). The abscess content was sent for culture. Despite not showing up complicated acute cholecystitis, because there was a cleavage plan between the gallbladder and the abscess, cholecystectomy was performed at the same surgical approach due to the reactive inflammation. No evidence of perforation of the gastrointestinal tract was observed. The abdominal cavity was drained by means of a tubulolaminar drainage.\nThe patient had a favorable outcome and was discharged on the second postoperative day with broad-spectrum oral antibiotic therapy (ciprofloxacin + metronidazole) for 21 days and an early outpatient appointment. The tubulolaminar drain was removed after ten days due to a small amount of secretion. The culture showed growth of gram-positive cocci, compatible with methicillin-sensitive Staphylococcus aureus; however, antimicrobial therapy was maintained because of the clinical improvement.\nTwo months after the surgical treatment, the liver abscess image could not be evidenced in the abdominal CT scan. |
A 41-year-old male patient presented to our center with complaints of blurred vision. It was learned that the patient had been admitted to the hospital due to a high fever during a trip to Thailand one month earlier. Based on examination results, he had been diagnosed with dengue fever and admitted to the intensive care unit; however, he stated that an ophthalmological examination had not been performed during this period. The patient was not sure exactly when his blurred vision had begun, but reported that the problem was lessening over time. The patient had no history of any systemic diseases, medication use or substance addiction. As it was not possible to obtain the patient’s discharge report documenting the procedures performed abroad, serologic tests and their results from the acute phase could not be analyzed.\nUpon examination in our clinic after returning from Thailand, the patient’s corrected visual acuity was 1.0 right and 0.5 left (Snellen). On slit-lamp examination, the anterior segment appeared normal and no signs of uveitis were detected. Intraocular pressure was 14 mmHg OU. Fundus examination revealed indistinct soft exudates and punctate hemorrhages at the posterior pole which were more pronounced in the left eye. There were no cells in the vitreous. Although there was no increase in retinal thickness in the left macula on optic coherence tomography (OCT), there was increased reflectivity of the inner retinal layers in the area of soft exudate, and the outer retinal layers (ISOS band) in the foveal area were more disorganized compared with the right eye (). Fundus fluorescein angiography (FFA) showed indistinct vascular leakage near the area of soft exudate in the left macula (). As visual acuity spontaneously returned to normal and no serious ocular involvement was observed in examination, no medication was recommended. Because the patient lived outside the province, he could not come for follow-up. |
A 16 year old Sri Lankan male, diagnosed with FA, presented to University Medical Unit (UMU) of National Hospital of Sri Lanka for further assessment of central cyanosis and clubbing. He was a product of a non consanguineous marriage and had been "healthy" up to 13 years of age when he had developed petichiae and found to have thrombocytopenia. There was no organomegaly. His platelet counts were persistently low around 20,000/ɥl. A trephine bone marrow biopsy showed severe bone marrow hypoplasia with haematopoietic tissue accounting for less than 25% of marrow spaces. No abnormal cells were noted and it was concluded to be compatible with severe aplastic anaemia. All other routine blood tests including liver function tests, renal function tests, erythrocyte sedimentation rate and tests of coagulation were within normal limits. Ultrasound scan of the abdomen was also normal. A clinical diagnosis of FA was made and genetically confirmed by chromosomal studies. Three chromosomal cultures with a) no mitomycin C (MMC), b) 10 ng/ml of MMC, c) 50 ng/ml of MMC all demonstrated increased chromosome breaks in metaphase chromosomal spreads in the patient when compared with a control. He continued to be followed up at a regional tertiary care centre where the progressive clubbing and cyanosis were noted. A transthoracic echocardiogram (TTE) performed initially by a paediatric cardiologist revealed a structurally and functionally normal heart without any evidence of an intra-cardiac shunt. Increased interstitial shadowing was noted in bilateral lung fields in the chest roentgenogram and lung function tests revealed a severe restrictive pattern. The high resolution CT (HRCT) of the thorax failed to demonstrate any evidence of pulmonary fibrosis.\nUpon admission to UMU, in addition to central and peripheral cyanosis and grade 5 clubbing, the patient also had persistent desaturation with paltypnoea (breathlessness worsening on sitting up) and orthodeoxia (desaturation worsening with sitting up from lying down position). His oxygen saturation on pulse oximetry was persistently around 70% on air and further desaturation was noted upon standing.\nA contrast echocardiography demonstrated early crossover of contrast during 3rd and 5th cycles raising the possibility of pulmonary arterio-venous fistula. No other cardiac cause was identified that could account for his cyanosis and clubbing. To account for the severe degree of desaturation, we assumed the shunt to be of large calibre. The CT pulmonary angiogram (CTPA) was inconclusive in this regard. A subsequent cardiac catheterisation study demonstrated bilateral diffuse pulmonary arterio-venous fistulae not amenable for surgical intervention. |
A 4.5-year-old boy was referred to the Oral and Maxillofacial Surgery Department of Tehran University of Medical Sciences with the chief complaint of swelling and mild pain in the posterior right mandibular area. An informed signed consent was obtained from the parent of the patient. The familial and medical histories were not contributory, and no evidence of facial trauma was reported.\nOn extra oral examination, there was mild swelling of the right lower jaw leading to mild facial asymmetry. The swelling was bony hard in consistency.\nAn intraoral examination revealed buccal and lingual cortical expansion. The overlying mucosa was normal. A vitality test with an electrical pulp tester yielded a positive reaction for the deciduous mandibular second molar. There was no functional difficulty with speech, swallowing, and breathing.\nOn panoramic radiography, there was a well-defined capsulated non-homogenized radiopaque mass related to the apical region of the right deciduous mandibular second molar (). Another considerable situation was that the roots of the right first unerupted molar were developed in comparison with the opposite side and had unusual radiolucency with them.\nOn the basis of the clinical and radiographic features, the differential diagnosis of this lesion included odontoma, cementoblastoma, and osteoblastoma. Considering the radiographic features based on the attachment to the tooth root, we ruled out osteoblastoma. However, microscopic examination was necessary to differentiate between odontoma and cementoblastoma. Surgical enucleation of the lesion, including the removal of the involved teeth, was planned and executed under general anesthesia.\nThe tumor mass was embedded in the root of the deciduous mandibular second molar tooth and had an irregular surface with a maximum dimension of 1.6 cm.\nHistopathologic examination revealed sheets of a cementum-like material entrapped within the vascular connective tissue stroma ().\nThe intervening connective tissue stroma was loose and vascular. Prominent reversal lines were seen within the sheets of the cementum-like material. Numerous large cementoblasts were evident\naround the calcified materials (). Based on these finding and considering the attachment of the lesion to the tooth root, we confirmed the diagnosis of cementoblastoma.\nRegular post-surgical follow-ups revealed a new lesion at age 5.5 with mild swelling. On panoramic evaluation, there were 2 circular homogenized well-defined and capsulated\nradiopaque masses related to both roots of the erupted first mandibular molar (). Further surgery was done to remove the lesion and the associated tooth. The lesion presented the previous diagnosis and cementoblastoma was reported.\nAt age 8 years, the patient was referred to the abovementioned department with a complaint of swelling at the previously mentioned location.\nIn the panoramic view, there was a circular capsulated homogenized radiopaque mass in the edentulous region of the extracted mandibular first molar (). Local wide excision was performed under general anesthesia, and the recurrent lesion was harvested. Similar to the previous diagnosis, the lesion presented a benign cementoblastoma.\nGiven the unusual recurrences of the lesion after local wide lesion excision, we recommended a close follow-up of the patient. At 3 follow-ups of the patient at 3, 6, and 9 months after the last surgery, there was no evidence of recurrence fortunately. |
A 62-year-old woman presented to the emergency department reporting several days of a pruritic rash that started on the dorsal aspects of the hands and then appeared on the dorsal aspects of the feet. She was afebrile with otherwise unremarkable vital signs and was discharged on triamcinolone 0.1% cream twice daily. Two days later, the rash had not improved, so she called her primary care physician and was prescribed fluocinonide 0.05% ointment twice daily over the phone. The next day, her pruritus improved, but her rash continued to spread to include her left thigh, which led the patient to seek further evaluation from a dermatologist.\nWhen the patient was evaluated for the first time in the dermatology clinic, approximately 10 days after the rash first appeared, the rash had not resolved despite topical treatment. Further interview revealed that she had tested positive for SARS-CoV-2 infection as demonstrated by positive polymerase chain reaction 6 weeks before the rash appeared. She reported that she had recovered from COVID-19 at home without the need for supportive care.\nOn examination, she had unremarkable vital signs, Fitzpatrick V skin type, and violaceous smooth papules coalescing into plaques on the dorsal aspects of the hands and feet and to a lesser extent on the anterior aspect of the left thigh (). Petechial macules on the fingertips and shins were also noted. There was no involvement of the mucosa, palms, or soles. A 3-mm punch biopsy obtained from a representative lesion on the left dorsal hand demonstrated focal epidermal spongiosis, papillary dermal edema with extravasated erythrocytes, and a lymphocytic perivascular infiltrate in the superficial dermis (). These histologic findings supported the diagnosis of papular purpuric glove and socks syndrome.\nAdditional pertinent workup included parvovirus B19 serologies positive for IgG, but negative for IgM antibodies. Complete blood count with differential and comprehensive metabolic panel was unremarkable. Since the review of systems was not otherwise suggestive of another recent viral illness, no further viral workup was ordered. The patient did, however, have negative serologies for HIV and Hepatitis B/C 2 years before presentation.\nThe patient was continued on fluocinonide 0.05% ointment daily until her follow-up 16 days later, when there was a marked improvement in the pruritic eruption. |
A 69-year-old woman patient, under a routine, three times a week hemodialysis programme for 8 years, with a history of polycystic kidney disease accompanied by chronic renal failure (CRF) and chronic obstructive pulmonary disease (COPD), complained of a chest pain and dyspnea while being evaluated during one of her dialysis sessions. In the physical examination, her blood pressure (BP) in the right upper extremity was found to be 140/80 mmHg and heart rate 78/min, and heart and breath sounds were normal. Her electrocardiogram showed sinus rhythm. Cardiac enzymes observed for the purpose of excluding the diagnosis of acute coronary syndrome are found within the normal range. Echocardiographic evaluation showed left ventricular hypertrophy, dilatation in the right heart cavities, pulmonary hypertension, 2-3° tricuspid regurgitation, 1° aortic regurgitation, and minimal pericardial effusion. In BP measurements, while blood pressures in both upper extremities were found to be at the hypertension level (BP: 150/90 mmHg), the lower extremity pressures were found to be at low levels (BP: 110/70). Hence, spiral thorax CT angiography was applied to the patient, who was suspected to have aortic coarctation. It was seen in her report that the descending aorta was interrupted in a 1 cm segment starting from the subclavian arterial exit. It was observed that the distal of the descending aorta was being filled with internal mammarian and paravertebral collaterals (Figures and ). Coronary arteries were also evaluated in CT angiography, and no critic lesions were observed. The patient was diagnosed with interrupted aortic arch type A, and with the decision of a common meeting of cardiology and cardiovascular surgery, it was agreed to keep the patient under control with medical treatment (metoprolol 1 × 50 mg, ramipril 1 × 5 mg, and acetylsalicylic acid 1 × 100 mg). The patient, whose complaints have been considerably reduced, is still getting hemodialysis treatment in our center. |
A 49 year-old Caucasian woman was transferred to our hospital with right flank and lower quadrant abdominal pain in March 2010. Her history was significant for type I diabetes mellitus, hypertension, hyperlipidemia, end-stage kidney disease. She was status-post two pancreatic transplants in 1991 and 2006, as well as and four renal transplants (last in February 2000). Seven months prior to this admission, she was diagnosed with a low grade noninvasive papillary urothelial carcinoma. A repeat cystoscopy two months before this admission was negative for any gross evidence of tumor recurrence.\nOn admission, a computed tomography (CT) scan of the abdomen revealed peripancreatic fluid collections with involvement of the cecal pole and urinary bladder. Findings were suggestive of pancreatitis and worrisome for rejection (). A biopsy of her pancreatic allograft revealed diffuse involvement by poorly differentiated carcinoma. A cystoscopy with biopsy revealed an invasive high grade urothelial carcinoma arising in the background of extensive urothelial carcinoma in situ. A positron emission tomography (PET scan) showed an abnormally increased signal in the region of the pancreas, and anterior abdominal wall. Exploratory laparotomy revealed extensive tumor invading the right ovary and tube, the cecum, and the transplant pancreas with extensive retroperitoneal involvement. Subsequently, she underwent en bloc resection of distal ileum and cecum, resection of transplanted pancreas, partial cystectomy, right salpingo-oophorectomy, and repair of ileocolostomy anastomosis.\nPathologic examination of the resection specimen disclosed a 4.9 cm mass within bladder cuff near the allograft that directly invaded the right ovary, fallopian tube, cecum, and pancreas allograft (), as well as extensive retroperitoneal involvement. The tumor demonstrated a prominent nested growth pattern reminiscent of the nested variant of urothelial carcinoma (NVUC) with other areas showing features more typical of conventional invasive high grade urothelial carcinoma. The neoplastic cells were positive for pancytokeratin and OC125 (cytoplasmic) while negative for chromogranin, synaptophysin, CD56, CK7, CK20, CDX2, TTF1, ER, PR, p53, and BRST2. While not entirely specific, the staining pattern combined with the presence of adjacent urothelial carcinoma in situ was supportive of an urothelial origin. In addition, the lesions resected from her abdominal wall were positive for metastatic urothelial carcinoma.\nPostoperatively, the patient was given with four cycles of gemcitabine and carboplatin, which completed in August 2010, with no measurable disease noted radiographically following therapy. In Feb 2011, the patient was admitted to jospital for worsening of abdominal pain. A CT scan revealed multiple intra-abdominal and peritoneal nodules consistent with metastatic disease. She went on hospice and died on March 2011. |
A 35-year-old male patient noticed lump in abdomen and complained of pain in abdomen for 1 year. The patient was married for 4 years with primary infertility. No significant past history was present. On clinical examination, he was averagely built and well-nourished with well-developed secondary sexual characters. Per abdominal examination revealed lump in the right inguinal region. On genitourinary examination, bilateral testis was absent in the hemiscrotum with well-developed penis. No hypospadias or epispadias was present. Karyotyping was not done in our case.\nInguinoscrotal ultrasonography revealed absence of bilateral testis in the scrotal sac. On computed tomography abdomen, there was presence of large mass in the right inguinal region with the presence of another small ovoid mass attached to its one end. The clinical and radiological diagnosis was right cryptorchidism with testicular tumor with the absence of another testis. Tumor markers were not done in our case.\nWe received a right orchidectomy specimen. On gross examination, testis was enlarged in size measuring 17 cm × 5.5 cm × 6 cm. Cut section of the mass showed large areas of necrosis with the presence of viable yellowish areas. On one side of spermatic cord, there was seen a triangular structure with tube-like structure. Proximal end of spermatic cord showed a small nodule measuring 1.5 cm × 0.8 cm [Figures and ]. Histopathological examination from the testicular tumor showed the features of seminoma with large areas of coagulative necrosis with atrophic testis at the periphery []. Sections from triangular structure on one side of spermatic cord showed endomyometrium and cervix [Figures and ]. Sections from tube-like structure confirmed the presence of fallopian tube []. Small ovoid mass at proximal end of spermatic cord showed other atrophic testis []. To conclude, histopathological examination confirmed presence of both the testis on the right side with the presence of uterus and cervix (persistent Mullerian duct structures). Hence, the final diagnosis was testicular seminoma in TTE with PMDS. |
A 30-year-old male patient presented with the chief complaint of missing anterior teeth to the Department of Oral and Maxillofacial Pathology Modern Dental College and Research Centre, Indore. Patient gave history of meeting with an accident one month back in which his upper left central incisor was fractured and the retained part of the tooth was mobile, which was extracted by the dentist on the same day. Intra oral examination revealed missing 21, 22, and lacerated wound, lateral to the extraction socket of 21. Single, intrabony, hard, and tender swelling was present in the anterior part of the hard palate. The swelling was extending from the mesial aspect of 23 to the mesial aspect of 11 with the dimension of 1.5 × 1 × 0.5cm. Small white globular structure was seen within the lacerated wound in 22 region, which was of 0.3 × 0.2 × 0.3cm in size, hard in consistency, smooth textured, and shiny in appearance. IOPA, occlusal view of anterior maxilla, and orthopantomogram were taken and radiographs revealed multiple, small globular to irregular radiopaque structures in 21 and 22 region and was surrounded by a thin radiolucent rim around it. On the occlusal side and adjacent to the radiopacities, a small well defined radiolucency was noted of approximately 1 × 0.5cm. The 22 was impacted and placed palatally and horizontally superior to the radiopacities [].\nMultiple hard tissues were surgically excised with two soft tissues. One bigger piece of hard tissue showed an association of cystic lining. The impacted permanent lateral incisor was also removed as it was horizontally placed [].\nOn histopathological examination, H and E stained decalcified section showed distantly placed small areas of pulpal tissue of variable volume and few disorderly placed enamel spaces surrounded by dentin. Some enamel spaces showed homogenous eosinophilic areas adjacent to them, suggestive of immature enamel. At places, cementum like tissue was admixed with the dentin. One of the hard tissues showed an association of cystic lining of considerable length. The cystic lumen was lined by 3–4 cell layers thick, flat, non keratinized stratified squamous epithelium. Other soft tissue excised from the same area showed similar epithelial features as those seen in the lining attached to the odontoma. Underlying connective tissue capsule was moderately dense fibrocellular, moderately vascular, and showed diffuse mild to moderate chronic inflammatory cell infiltration. Few odontogenic islands were interspersed in the connective tissue capsule[Figures and ]. |
A 17-year-old girl with chronic postprandial abdominal pain and weight loss was referred to our clinic. The other causes of chronic abdominal pain were investigated by several studies including gastrointestinal endoscopies and imaging; however, no definitive cause could be identified. Doppler ultrasonography was able to reveal a compression on the celiac artery. Peak systolic velocity (PSV) in the celiac trunk was measured as 250 cm/s, and dropped to 170 cm/s with deep inspiration (ΔPSV = 80 cm/s). Diagnosis was confirmed by three-dimensional (3D) CT angiography confirming the narrowing of celiac artery at the beginning of the celiac trunk arising from abdominal aorta [].\nThe procedure was carried out via four 5 mm trocars. After opening the lesser omentum, crural fibers of diaphragm was dissected to expose median arcuate ligament. Celiac ganglion was cauterized and incised with hook cautery. Then, arcuate ligament was dissected above celiac artery and released with a sealing device (Ligasure; Covidien®) []. After the releasing of the ligament, celiac trunk was free, and pulsation can be seen clearly at the distal branches of celiac artery. There were no intraoperative complications and the patient was discharged on the second postoperative day.\nIn the postoperative period, patient was admitted to our clinic with recurrent symptoms of mild abdominal pain. The patient underwent postoperative Doppler ultrasonography. PSV in the celiac trunk was measured as 202 cm/s, and dropped to 162 cm/s with deep inspiration (ΔPSV = 40cm/s). Also, 3D CT angiography was performed to demonstrate the improvement in narrowing of celiac artery. However, surgical clips did not allow for demonstration of celiac artery properly. Although the pain was described to be of lower intensity when compared with presurgical state, it continued to be disturbing and required frequent use of analgesics. Therefore, the patient was referred to the pain management service in the department of anesthesiology for paraspinal ganglion blockage. The patient is free of symptoms in the 9-month follow-up, gained weight and resumed normal daily activity. |
The patient is a 20-year-old African American female gravida 2, para 1 at 8-week-and-5-day gestational age based on her last menstrual period, who presented to the emergency department with a two-day history of crampy lower abdominal pain. She had a history of a full term cesarean section with her previous pregnancy. The patient rated her pain as 8 on a scale of 10. Physical examination revealed suprapubic and right lower quadrant tenderness, but there were no signs of acute peritonitis. She was hemodynamically stable with a blood pressure of 119/78 mmHg, hemoglobin of 11.4 mg/dL, and beta HCG of 1057 mIU/mL. Transvaginal ultrasound revealed no evidence of an intrauterine pregnancy but did show a moderate to large amount of complex collection of fluid in the anterior and posterior cul-de-sacs. Also noted was an ill-defined mass-like area in the midline pelvis and extending slightly to the right of midline measuring 2.9 × 3.6 × 3.8 centimeters (). Bilateral ovaries were within normal limits with normal Doppler flow. The above findings were concerning for a ruptured ectopic pregnancy. In light of the patient's symptoms and clinical data, the patient was taken to the operating room for a diagnostic laparoscopy. On inspection, large clots of blood were noted in the pelvis (). The uterus, bilateral tubes, and ovaries appeared normal. An intact corpus luteum was noted on the left ovary. However, on further exploring the abdomen, we noted an omental adhesion near the right fallopian tube (). On inspection, the omentum was found to have a hematoma within it. There was no evidence of a tubal or ovarian pregnancy based on the normal appearing anatomy of the pelvis. At this time, our presumptive diagnosis was an omental ectopic pregnancy since there was no other explanation for the laparoscopic findings.\nGeneral surgery was consulted and a partial omentectomy was completed. The portion of the omentum with the hematoma was sent to pathology for confirmation of a pregnancy. The patient did well postoperatively and was discharged home on postoperative day 1. Beta HCG the following morning before discharge had dropped to 471 mIU/mL.\nFollow-up beta HCG values on postoperative day 5 and day 12 were 45 mIU/mL and 4 mIU/mL, respectively. The patient did not receive methotrexate in the postoperative period. Final pathology confirmed the presence of chorionic villi consistent with products of conception with portions of adipose tissue and blood clot within the omentum. |
A 25-year-old primigravida was referred to us at 38 weeks for management of cardiac disease complicating pregnancy. Incidentally, during antenatal ultrasound, an intra-abdominal anechoic cyst, just above the level of kidneys, measuring 7 × 8 cm was noted (). Bladder was visualized separately. Placenta was situated in the upper segment and amniotic fluid index was normal. Intra-abdominal organs, heart, and diaphragm were not displaced. Estimated fetal weight was 2.3 kg suggesting mild IUGR. Provisional diagnosis of either mesenteric, ovarian, or duplication cyst was considered. She had mitral valve prolapse with NYHA class I. Since cyst was neither compressing other organs nor distending abdomen, vaginal delivery was planned. However, cesarean delivery was done for fetal distress. A female baby of 2.15 kg, with APGAR 9 and 10 at 1 and 5 minutes, respectively, was delivered. Postnatal examination of the baby revealed a palpable cystic mass of 10 × 8 cm in the right hypochondrium. No other congenital abnormalities were noted. Baby tolerated feeds well. Ultrasound was suggestive of an anechoic cyst in close relation to the left lobe of liver. Conservative management was advised by pediatric surgeon. Baby was on regular followup.\nHowever, laparotomy was performed at 2 months for persistence of cyst. Liver function, renal function tests, and electrolytes were preoperatively normal. At laparotomy, a cystic lesion arising from 5th segment of liver was noted and the same was excised (). Histopathology revealed that the cyst was devoid of lining epithelium and was lined by hyalinized fibrous tissue suggestive of mesenchymal hamartoma of liver ().\nPostoperative period was uneventful. After 2 months of surgery, a small cystic lesion (4 × 1 cm) was seen arising from the inferior part of right lobe of liver. It was decided to followup, the cyst. At the end of 2 months of postoperative follow up the cystic lesion reduced in size to 5 mm and baby was asymptomatic with good catch up growth. |
A 74-year-old male patient presented to the outpatient department with left-sided epiphora and chronic dacryocystitis, without any record of head trauma or previous surgery of the nose or paranasal sinuses. On nasal endoscopy no abnormalities were noted. A diagnosis of saccal NLDO was made by clinical examination including lacrimal irrigation and fluorescein tests (Jones I and II tests) as well as probing of the canaliculi with a blunt probe up to bony contact with the lacrimal sac fossa performed by an ophthalmologist. The imaging studies (CT scan) revealed a 1 cm osteoma of the ventral half of the medial wall of the left maxillary sinus causing total obstruction at the level of the lacrimal sac (Figures , , , and ).\nUnder general anesthesia, an endonasal endoscopic dacryocystorhinostomy (DCR) without flaps [] using a cutting- and diamond-burr drill as well as the osteoma removal using a cutting-burr drill was performed. A temporary silicone stenting of the nasolacrimal duct system was applied. No postoperative complications occurred. An oral antibiotic therapy (amoxicillin and clavulanic acid 1 gr twice a day) was initiated on the day of surgery and continued for 5 days. A concomitant topical therapy with antibiotic and steroid solutions (tobramycin and dexamethasone ophthalmic suspension 2-3 drops twice a day for 5 days) was also given. The patient's total hospital stay lasted 1 day.\nA lacrimal duct system irrigation with natural saline solution into the inferior canaliculus was performed by an ophthalmologist once a week during the first month and twice a month during the second month. An endoscopic endonasal examination to test the patency of the duct system was performed 15, 21, and 30 days postoperatively. The silicone stent was removed 6 weeks postoperatively. An anatomical and functional obstruction of the DCR-window due to granuloma formation at the DCR-window area was noted 8 weeks after surgery on the combined nasal endoscopic and ophthalmologic examination. An endoscopic revision-DCR procedure with granuloma removal under local anaesthesia was performed. The DCR-window remained functionally and anatomically patent 6 months after surgery (Figures and ). |
Two years ago, a 66-year-old female (ASA score III with hypertension for 15 years) was treated by anterior resection for rectal cancer. The stage of the tumor was pT2N1M0 (IIIA) and she received adjuvant chemoradiotherapy (capecitabine oxaliplatin-50,4 Gy RT) postoperatively. After completing the adjuvant therapies, she was well without weight loss, rectal bleeding, or any change in defecation frequency. One year ago she started suffering from upper abdominal pain and the carcinoembryonic antigen (CEA) level rose to 232 ng/mL. In the colonoscopy the anastomotic line and the rest of the colonic segments were normal. Computed tomography revealed a subcapsular 5 cm in diameter metastasis between segments 6 and 7 of the liver. A PET CT (Positron Emission Tomography) for whole body screening demonstrated only one liver lesion with a SUV max value of 11.2. A segmental liver resection with clean surgical margins using Pringle maneuver and Cavitron Ultrasonic Surgical Aspirator (CUSA) was done and the patient was discharged on postoperative day four without any problem. The histopathology of the tumor was confirmed as adenocarcinoma with free surgical margins.\nThirteen months after the liver surgery, her CEA was measured as 9.86 ng/mL in the routine follow-up and CT demonstrated a 5 × 3 cm metastasis at the caudate lobe of the liver compressing on the retrohepatic vena cava (). During surgery, the adhesions were released and the liver was fully mobilized. The caudate lobe mass was invading the right adrenal gland, the right diaphragm, and circumferentially (<50%) the retrohepatic vena cava. At first, the liver parenchyma division of the caudate lobe was done under total hepatic vascular exclusion (15 minutes, with crash clamp technique). Doing the hepatic transection at first enabled a clear determination of the tumor in the center of a mass including the vena cava, adrenal gland, and the diaphragm. An isolated caval clamping (22 minutes) by preservation of the hepatic blood flow was preferred (). No venovenous bypass was used. En bloc resection of vena cava with the liver tumor, right adrenal gland, and right partial diaphragm was performed (). Caval reconstruction was done by using a 5 cm in length cryopreserved vena cava homograft (). A tube thoracostomy was placed into the right thorax and the diaphragmatic defect was repaired with a polypropylene mesh. Total surgery time was 560 minutes. Total blood loss was around 550 mL and two units of blood transfusions were made during surgery. In the postoperative period a low molecular weighted heparin was started. In the first postoperative day, a 10 mL bile stained drainage occurred but ceased itself in the second day. The liver enzymes were elevated in the early postoperative period but they gradually decreased. The thorax tube was removed on day six, a control CT on day nine demonstrated the patent vena cava (), and she was discharged on day 11 uneventfully. Her last CEA value was 3.58 ng/mL and she was referred to the medical oncology clinic for adjuvant therapy again. Histopathological examination confirmed the adenocarcinoma invading the vena cava, adrenal gland, and the diaphragm. The resection margins of the specimen were free of tumor. She had no problems after two months' follow-up. |
We present the case of a 63-year-old man with a history of implantable cardioverter-defibrillator (ICD) insertion at the age of 42 for secondary prevention after sudden cardiac arrest (SCA) with shockable rhythm at an outside hospital; since then, he had had recurrent admissions to our facility due to episodes of ventricular tachycardia (VT) (Figure ) despite undergoing trials of multiple anti-arrhythmic medications. He had initially been on amiodarone 400 mg a day; however, he had developed amiodarone-induced hypothyroidism and had been transitioned to sotalol 160 mg BID. The patient had no other major comorbidity or systemic symptoms, no family history of SCA, and no social history of substance abuse. Baseline ECGs showed normal sinus rhythm with normal QRS, and QT intervals. His coronary angiography revealed only mild coronary atherosclerosis (CAD) in the mid LAD (20-30% stenosis). Initial transthoracic echocardiography (TTE) was pertinent only for anterior mitral valve redundancy and prolapse (Figure ) associated with mild MR. ICD had been implanted after his initial presentation for SCA without reversible reason, and for secondary prevention of SCA. During the two decades of follow-up, his left ventricular ejection fractions (LVEF) had remained normal; however, the MVP had become more significant years later after his initial SCA, and MR had progressed to be deemed moderate on the latest TTE (Video ). He had undergone multiple appropriate ICD shocks for monomorphic VT (MMVT) after ICD implantation. The VT captured on 12 leads ECG was suggestive of the origin of arrhythmia from the inferolateral wall of the left ventricle. We also captured premature ventricular contractions (PVC) of at least three different morphologies. The patient could not undergo a cardiac MRI due to incompatibility with his ICD lead. He was referred for an electrophysiology study twice and ablations were performed targeting PVCs; however, he continued to have ICD shocks for VT. Ultimately, his ICD shocks decreased with mexiletine 200 mg TID. |
A 44-year-old Japanese woman underwent a medical examination for health check reasons at her local hospital. An ultrasound scan revealed a uterine myoma-like lesion, 5.9 cm in diameter. The patient revisited the hospital 12-months later for a follow-up examination. In that time, the lesion had increased to approximately twice its size. The patient was referred to our clinic for a detailed examination. At the first internal examination, the body of the uterus was enlarged to the size of a newborn head; cervical and vaginal discharge was unremarkable. The adnexa were not palpable on both sides. The patient’s blood test results were normal. Transvaginal ultrasonography detected an isoechoic solid mass with an ill-defined boundary between the lesion and the uterus (Fig. ). A tumor, 110 × 90 × 80 mm in size, was revealed in the right pelvic cavity by magnetic resonance imaging. The tumor exhibited a slightly lobular pattern with smooth margins. The internal mass had a density similar to that of myometrium on abdominal, T1-weighted magnetic resonance imaging and a low density on T2-weighted magnetic resonance imaging in the horizontal plane (Fig. ). Several flow void regions (a bridging vascular sign) were detected between the lesion and the uterus. These findings suggested a subserous myoma. However, the continuity of the lesion and the uterus was unclear. Since we were unable to identify the right ovary, a fibroma/thecoma of the right ovary was considered as a differential diagnosis (Fig. ). The left ovary did not exhibit any abnormalities. At this point, a preliminary clinical diagnosis of subserous myoma was made and a laparoscopic myomectomy was planned. The laparoscopic findings demonstrated a 10-cm right ovarian mass without intra-abdominal adhesion or rupture of the tumor. The uterus and left appendages were normal in size (Fig. ). A laparoscopic right adnexectomy was subsequently performed. The ascitic fluid was serous, and the cytological evaluation was negative.\nMacroscopically, the cut surface of the tumor was homogeneous and solid in appearance with a yellowish-white pigment. Necrosis and hemorrhage were absent within the tumor (Fig. ). Microscopic images are depicted in Fig. . The capsule of the tumor was intact without necrosis and hemorrhage (Fig. ). The tumor cells consisted of dense cellular proliferations of spindle fibroblast-like cells, arranged in a fascicular structure, without significant cytological atypia (Fig. ). In addition, a portion of the tumor cells proliferated in a trabecular pattern and a collagen band was distributed around the stroma (Fig. ). The tumor was composed of cells with ovoid to spindle-shaped nuclei and a scant cytoplasm. Some of the nuclei had a nuclear groove. No severe cytological atypia was detected. The mitotic activity index was estimated at >15 mitotic figures per 10 high-power fields (Fig. ). Pathological differential diagnoses included a cellular fibroma, fibrosarcoma and adult granulosa cell tumor (AGCT).\nImmunohistochemical staining was positive for vimentin, muscle-specific actin, alpha-smooth muscle actin, alpha-inhibin and progesterone receptor (Fig. ), and negative for calretinin, epithelial membrane antigen, desmin, estrogen receptor, CD10, CD99, chromogranin A, synaptophysin and tumor protein p53. The Ki-67/MIB-1 labeling index was 9.5 % (Fig. ). Reticulin staining showed reticular fibers surrounding each cell (Fig. ). This was not a typical feature of AGCT. We further analyzed genomic DNA (isolated from formalin-fixed, paraffin-embedded tumor tissue sections) for a FOXL2 c.402C > G (p.C134W) point mutation that is observed in the majority of AGCT patients [, ]. The FOXL2 mutation was detected in the AGCT case used as a positive control, but was absent from our case and the negative control (Fig. ). Because necrosis and hemorrhage were not detected macro- or microscopically, a fibrosarcoma was ruled out. After performing the differential diagnoses outlined above, a final diagnosis of MACF was confirmed. Having obtained written informed consent, we evaluated the patient’s risk of recurrence. Based on our recommendation and the preference of the patient, we performed radical surgery (simple hysterectomy, left adnexectomy and omentectomy). The patient is undergoing regular follow-up. Recurrence of the tumor has not been observed in the 2-year postsurgical period. |
Mr. X, a 22-year-old male pursuing his postgraduation, presented to us in March 2017. He was premorbidly a well-adjusted individual, with no significant medical history and family history suggestive of cannabis use and conduct disorder in younger brother. Mr. X started using marijuana at the age of 19 due to peer pressure and curiosity. Gradually, he developed tolerance, leading to increase in the number of joints per day, significant craving, loss of control, and withdrawal symptoms in the form of irritability and restlessness. He was found to be euphoric, disinhibited, and unable to concentrate in the class after smoking cannabis, unlike his premorbid self. His teachers and friends often noted him to have conjunctival injection. He had tried alcohol on a few occasions, but cannabis remained his substance of preference. He had missed classes in order to procure, use, or recover from the effects of cannabis and failed to pay his college fees. Parents were informed by the institute, following which he was brought to us for treatment. His last use of cannabis was on the previous day. There was no significant period of abstinence. His physical examination was normal except for conjunctival injection. Mental status examination revealed anxious affect, craving for cannabis, and precontemplation phase of motivation. His cognitive functions were intact and there was no evidence of organic or other psychiatric illness. He was diagnosed to have cannabis dependence according to International Classification of Diseases-10th Edition.[] He was admitted, evaluated in detail with blood investigations, and other comorbidities were ruled out. During psychotherapy sessions, the patient used the restroom frequently—at least twice during every 45-min session.\nOn enquiry, he revealed that he has been passing urine at least 15–20 times during daytime and 3–4 times at night since 12 years of age. During school days, he would wait for every period to finish and rush to the restroom. There was an occasional history of urge incontinence. The patient reported that this had caused significant distress, but he had not sought any medical help. Surprisingly, for the past 2 years, he did not have this problem, and he was able to sit in the class for 2–3 h at a continuum. However, following his admission to the hospital and abstinence from cannabis, there was a reappearance of urinary symptoms.\nThe patient was evaluated with urine routine examination, culture and sensitivity, and ultrasound abdomen and pelvis, which were normal. The patient was asked to maintain a diary, and an input-output chart was maintained for 3 days. The mean frequency of micturition was 25 times during the day and four at night. The output quantity was normal. Urologist opinion was obtained, and an urodynamic study showed detrusor hyperactivity characterized by involuntary detrusor contractions during the filling phase of micturition cycle. A diagnosis of OAB was made. Lifestyle modifications and behavioral interventions, including avoiding caffeinated beverages, restricting fluid intake before bedtime, pelvic floor exercises, and gradually increasing the holding time of the bladder, were initiated. The patient was also started on T. Tolterodine 4 mg after that the frequency and urgency reduced significantly. The patient was discharged after 3 weeks once his motivation to abstain from cannabis improved. The patient was lost to follow-up in June 2017, and he discontinued T. Tolterodine, leading to relapse of OAB. In September 2017, he presented again after 2 months of relapse to cannabis use, during which his OAB symptoms were completely absent. The patient believed that cannabis helped with his OAB symptoms, which were one of the maintaining factors of his cannabis use along with craving and peer pressure. |
A 58-year-old man was incidentally found to have a liver tumor measuring 20 mm by abdominal ultrasonography during a routine company health examination in 2004. The tumor grew in size over the next 2 years, and closer inspections were conducted by a previous physician in 2006. Enhanced computed tomography (CT) of the abdomen showed a 70-mm mass with hemorrhagic and necrotic changes in the right lobe of the liver (segment 5), with early arterial phase staining and late phase washout, which seemed to be consistent with hepatocellular carcinoma (HCC) (Fig. ). Anterior segmentectomy of the liver was performed. Macroscopically, non-encapsulated tumor had irregular borders. Sectioning of resected specimen revealed a white to yellow, friable, hemorrhagic mass measuring 63 × 50 mm (Fig. ). Microscopically, hematoxylin and eosin staining showed atypical epithelioid cells containing abundant clear to eosinophilic granular cytoplasm arranged in nests and sheets. The cells were unevenly distributed and had pleomorphic nuclei of varying sizes. Blood vessels were inconspicuous and mature adipose tissue was not detected. Both bile ducts and portal tracts were involved in the tumor. Immunohistochemically, the tumor cells were negative for hepatocyte paraffin 1 (HepPar 1) and alpha fetoprotein. In contrast, the tumor cells were scatteredly positive for melanocytic markers including human melanoma black 45 (HMB-45) and Melan A, but negative for smooth muscle antigen (SMA) and S100 protein, together with negative for c-kit and moderately high Ki-67 labeling index (12.9 %) (Fig. ). Accordingly, primary hepatic eAML was diagnosed at that time.\nAfter hepatectomy, the patient was referred to our hospital and followed every 6 months on an outpatient basis. No hepatic recurrence was observed over nearly 7 years. In 2013, a chest X-ray showed a well-defined nodule in the right lung field (Fig. ). Chest CT showed two round nodules in segments 1 and 3 of the right lung, measuring 10 and 4 mm, respectively (Fig. , ). Fluorodeoxyglucose-positron emission tomography did not show any uptake. Since the diagnosis could not be confirmed by inspection through bronchoscopy, partial pneumonectomy was performed for diagnostic and therapeutic purposes. Macroscopically, the two resected specimens included solid white masses. Microscopically, the neoplastic cells were morphologically similar to those of the primary hepatic tumor. There was no evidence of vascular invasion. Immunohistochemically, the tumor cells were diffusely positive for HMB-45 and negative for SMA and S-100 protein. In addition, the tumor cells were negative for c-kit and the Ki-67 labeling index was 9.0 % (Fig. ). Therefore, a diagnosis of lung metastases from hepatic eAML was made. Loss of tuberous sclerosis complex (TSC) genes, TSC1 and TSC2, was not detected. The patient has remained recurrence-free on a closer follow-up schedule for 2 years after pneumonectomy.\nSince it was first described by Ishak [] in 1976, hepatic AML is now a well-recognized tumor. The number of reports on hepatic AML, including malignant cases, has continued to increase worldwide. In recent years, the clinicopathological characteristics of malignant hepatic AML have been intensively investigated despite many challenges. Tumor size has been reported as a simple and clear predictor of malignant AML [–, ]. Although the cutoff value varies in the literature, Ding and colleagues [] identified that tumors greater than 60 mm in diameter might have malignant potential and this was true of our case (63 mm). In terms of histology, cytologic atypia, pleomorphism, necrosis, and high mitotic rate were reported as predictors of malignant potential [, , , ]. The presence of cytologic atypia and necrosis are frequently observed in malignant cases, including ours. However, Nonomura and colleagues [] demonstrated that atypia and pleomorphism are occasionally found in epithelioid cells and does not always indicate malignant hepatic AML. In addition, the monotypic epithelioid variant of AML arising from the kidney had been regarded as having malignant potential [, ], whereas data on those of hepatic origin are scarce. Recently, the number of reports on malignant classical AML in the liver has also been increasing [, , , ]. Accumulation of cases is necessary to clarify the histological differences between malignant and benign AML.\nImmunohistochemically, there was a difference in the degree of staining for HMB-45 between primary and metastatic lesion. Considering intratumoral heterogeneity has been observed in various malignancies [], this difference may suggest malignant potential in our case. Moreover, a previous investigation showed that lack of c-kit expression is suggestive of malignant hepatic AML, [] in contrast to c-kit immunopositivity in benign lesions []. Indeed, in four cases where c-kit expression was evaluated, all were negative or weakly positive. Although further investigation of the intensity of c-kit staining in malignant cases is required, it is potentially a predictive marker.\nThere is a paucity of detailed data on the metastasis or recurrence pattern of malignant hepatic AML. As summarized in Table , the most frequently observed site of recurrence is the liver (nine cases), followed by the lung (three cases), pancreas (two cases), and other organs, indicating a hematogenous pattern of metastasis for malignant hepatic AML. Furthermore, our case showed that the lung could be the first site of recurrence for malignant hepatic AML. Thus, prudent evaluation of the lung fields by chest X-ray or chest CT in addition to following the residual liver should be conducted.\nFour patients died due to disease recurrence, indicating an unfavorable prognosis after recurrence [, –]. In a case described by Dalle and colleagues [], the tumor was observed for 5 years before it was resected, and multiple metastases appeared in the residual liver just 5 months after resection. Moreover, median recurrence-free survival of the ten patients with recurrence was 36 months (range, 5–108 months); three patients relapsed more than 5 years after initial resection. Prompt surgical treatment and careful follow-up for a long period is crucial to increasing the survival of patients with malignant disease. In addition, our case suggests that early detection and re-resection of the site of recurrence could improve the prognosis of patients with malignant case. |
A healthy 10-year-old boy presented with a right forearm fracture after an RTA; he exhibited no signs of abdominal pain or vomiting. An abdominal computed tomography (CT) scan was performed at the time of admission. Although he had developed a DH, this was missed during CT screening ().\nLaboratory evaluations indicated a hemoglobin level of 12.2 g/dl, an alanine transaminase (ALT) level of 259 U/L, and an aspartate aminotransferase (AST) level of 412 U/L; this was thought to be related to the RTA. Other laboratory evaluations indicated that the renal profile, amylase level, and coagulation profile were within the normal range. Hemoglobin level remained stable, while ALT and AST levels decreased during admission. He exhibited no further symptoms and was discharged after 2 days with a cast on the right forearm; no other interventions were considered necessary.\nThree days after discharge, the patient started to vomit. The frequency of vomiting increased with time and persisted for 27 days before medical advice was sought. The patient presented to our emergency department with persistent nonbilious vomiting, abdominal pain, inability to tolerate feeding, and weight loss of 2 kg. He was considered to have an intestinal obstruction. A CT scan was performed, this time revealing a DH causing narrowing of the duodenal lumen (). His hemoglobin level was maintained, and his ALT and AST levels, amylase levels, and coagulation profile were within the normal range. He was kept nil per os (NPO) for 5 days; however, his clinical symptoms did not improve.\nPediatric esophagogastroduodenoscopy (EGD) was performed, revealing severe stenosis in the third portion of the duodenum; the pediatric gastroscope with an outer diameter of 8.9 mm could not pass through. A controlled radial expansion (CRE) balloon was dilated to 15 mm without complications (). Omeprazole was initiated at a daily dose of 1 mg/kg. The patient tolerated full oral intake and was discharged 2 days after the dilatation procedure with a follow-up EGD appointment in 2 weeks. During the EGD follow-up, a recurrence of the severe stenosis in the same area was detected, and CRE balloon dilatation to 18 mm was performed without complications. He underwent 2 more sessions of endoscopic CRE dilatation, and a better outcome for the outer diameter of the third portion of the duodenum was achieved at the end of the fourth session.\nAt the fifth EGD (performed 11 weeks after the first EGD), no stenosis was detected and no interventions were required (). He remained asymptomatic throughout the 3-month follow-up period in our outpatient clinic and experienced improved weight gain. |
Mr G, a 48-year-old Italian man, manager of a small firm, married and father of two children, was diagnosed with sarcoidosis 24 years ago. The diagnosis, based on radiological and histological findings, was made at Ospedale Maggiore in Bologna. Tuberculosis, cryptococcosis, histoplasmosis, and other infective diseases were excluded by the laboratory analysis. The disease concerned his skin and his lungs, with the characteristic noncaseous granulomas. The main symptoms were an erythema nodosum to the legs and dyspnoea. The disease did not affect the central nervous system or other organs.\nThe patient was treated with corticosteroids, with different dosages according to the clinical condition. The physician noticed a state of depression and thus requested an evaluation from a clinical psychologist.\nDuring the clinical interview the patient showed an alexithymic communication style, with limited speech, a pessimistic approach to the future, and social withdrawal. He worried about appearing idle at work, and spending little time with his family, with whom he felt isolated and not respected. He criticized himself and felt mortified when going against his own limits in his professional activity. He felt helpless that he had failed to meet his own expectations and that he was unable to cope with his pressing problems. This evidenced a state of demoralization, particularly frequent in medically ill patients [].\nMoreover, he suffered from dyspnea, and, every 3-4 months, the sarcoidosis nodule on his right leg worsened, as it had been doing for the last ten years. The sarcoidosis manifested itself six months after the patient started working and got married. These events coincided with the onset of the oncological disease of his father, who died three years later. At the time of his father's death, the patient had just started an entrepreneurial activity. The patient was therefore left without the important psychological support of his father. During this period the wife's depressive disorder, which had already appeared five years before, returned, with the onset of the oncological pathology of her mother, who died the year after the death of the patient's father.\nA minor depressive disorder was diagnosed, according to DSM-IV-TR [], based on the following aspects: depressed mood, feelings of low self-esteem, and difficulties in making decisions. From the anamnesis these research criteria were met during the last decade.\nTo the medical therapy, consisting of 5 mg/die of Prednisone, a supportive-expressive weekly psychotherapy session was associated, according to the technique introduced by Trombini for psychosomatic patients with alexithymic traits [, ]. At the beginning and at the end of the psychotherapy, and for the long-term outcome evaluations, the patient's psychological distress (anxiety, depression, somatization, and hostility) was investigated using the Italian version of the Symptom Questionnaire (SQ) by Kellner []. The SQ is a widely used instrument in psychosomatic assessments and in the test-retest control of psychotherapies [].\nThe psychotherapy lasted three years. |
A female baby weighing 2.45 kg was born to a 20-year-old woman. The parents were not related. The child was the second for the parents; the first had died at one year of age from ill health. The baby was born in a peripheral health center and was 18 hours old when she was transferred to our hospital. Pregnancy and delivery were supervised and there was no history of maternal illness during the pregnancy. There was no history of a prenatal ultrasound diagnosis of the anomaly. There was no history suggestive of exposure to teratogenes during pregnancy. There was no family history of birth defects. The child cried spontaneously at birth. Examination revealed a non-cyanosed anicteric baby, who was not in any obvious respiratory distress. The chest examination showed an obvious anterior chest wall defect covered by skin, which was pink and membranous over the epigastrium. The cardiac impulse was visible. Palpation of the chest wall revealed a complete sternal defect. Breath sounds were well heard all over the chest, only the first and second heart sounds were heard over the precordium. The heart rate was 140 per minute. The umbilical stump was intact with no obvious anomaly of the umbilicus. No other anomalies were seen on examination [].\nEchocardiography could not be performed in our center because the echocardiography machine could not be adapted for pediatric use, and the parents could not afford the investigation in a private diagnostic center. The child was on admission for seven weeks, and 70% alcohol (ethanol) dressing of the membranous covering over the epigastrium was done daily to encourage epithelialization. The child remained clinically stable throughout the period of admission. The father who was a carpenter could not afford any further investigations, or the cost of admission, and requested for child's discharge against medical advice. Patient was lost to follow up. |
In November 2016, a 58 year-old woman was referred from her general practitioner to our Gynecological Department. Her main complaints were up to 16–18 micturitions a day and repeated bladder infections despite continuous antibiotic treatment with either Pivmecillinam (Selexid®) or Nitrofurantoin. She had a feeling that she could not empty her bladder.\nDue to the organization of our outpatient clinic, a nurse with a special interest in incontinence initially saw the patient. At this visit an uroflowmetry showed obstruction, a voiding time of 78 sec, and residual urine of 190 ml.\nInput and output tables showed daily intakes of 1700–1800 ml and a total urine production of 1310–1860 ml. At her first visit the patient was instructed to perform double or triple voiding, and further she was recommended local treatment with estrogens (Vagifem® or Estring®).\nAfter one month, she was referred to the outpatient clinic to see an urogynecologist. She was in pain and was not able to empty her bladder properly through the night. Moreover, during the previous months, she had some abnormal bleeding from the vagina and blood-stained urine.\nA gynecological examination was performed which revealed a palpable solid mass located in the anterior wall of the vagina.\nThe anterior and posterior vaginal wall presented without prolapse. Uterus was well suspended and the cervix appeared normal. After examination, a small area in the anterior wall of the vagina was seen to bleed.\nTransvaginal ultrasound showed a bladder containing a total of 250 ml urine, a normal uterus with a thin endometrium of 1,4 mm, and two normal adnexa.\nThe solid area was located in close contact with the anterior wall of the vagina and the urethra was measured to be 29 × 28,8 mm on ultrasound.\nDue to the urinary retention and pain, an attempt to apply a urinary catheter was done; however, this was not possible due to obstruction. Blood samples from the bleeding area in the anterior wall of the vagina and from the urethra were sent to the pathologist for further examination. An urologist was contacted and an ultrasound-guided suprapubic catheter was placed.\nThe patient was further examined having a cystoscopy with biopsies, a MRI scan, and a PET-CT scan, revealing a urethral adenocarcinoma measuring 4 × 4,5 cm with suspected lymph node affection of the iliac vessels on the left side ().\nIn January 2017, 19 lymph nodes were removed laparoscopically. All 19 lymph nodes were normal without any malignancy. The finale staging diagnosis was a large T3, M0, N0 tumor (). Due to the size and close relation of the tumor to the pubic bone, it was not possible to gain adequate surgical margins if performing radical surgery. Therefore, together with the patient it was decided that she should receive local radiation of 50 Gy on 30 fractions and subsequently brachytherapy without concomitant chemotherapy with Cisplatin. |
A 35-year-old man, who was a farmer, presented with an extra nail plate over the left middle finger following a sharp injury at the same site 6 years back. Three months following the injury, he had noticed a nail-like outgrowth projecting from the proximal nail fold (PNF), which slowly grew just like the underlying nail plate, but was much thicker and deformed. This ectopic nail produced discomfort while working, although there was no pain or swelling.\nOn physical examination, a well-defined nail plate distinct from the classical nail plate was found to arise from the PNF. It was rough and pigmented. The underlying normal nail plate showed a linear depression and an altered curvature, corresponding to the overlying ectopic nail plate []. No bony deformity was apparent.\nDermatoscopic examination of the nail (onychoscopy) showed an ectopic nail structure, distinct from the normal underlying nail plate, with an evidence of hematoma within its structure. It was arising from its very own, well-formed PNF with normal nail fold capillaries; however, the cuticle was absent. This indicated that the ectopic nail matrix was probably situated in an invaginated pocket under the dorsal layer of the PNF.\nA clinical diagnosis of acquired onychoheterotopia was made. As the ectopic matrix was seemingly placed underneath the dorsal layer of the PNF, we planned to avulse the ectopic nail plate with total matricectomy of the ectopic matrix. The procedure was explained to the patient and a written informed consent was obtained.\nUnder aseptic conditions, a proximal digital block was administered using 2% lignocaine without adrenaline. The digit was then exsanguinated and tourniquet was tied at the base of the digit to achieve an avascular operating field. The ectopic nail was avulsed [], exposing the ectopic matrix []. This was followed by total matricectomy of this ectopic germinal matrix with 88% phenol using cotton-tipped applicators (1min of application time) to ensure complete destruction of the displaced nail matrix []. The wound was then covered with nonadherent dressing. Postoperatively, oral antibiotics and analgesics were prescribed. The wound healed with a cosmetically acceptable outcome []. Histopathological examination revealed a well-formed nail plate with germinal matrix without a granular layer. No recurrence or spicule formation was reported over a further 6-month follow-up period. |
A 26-year-old female patient, who was strongly positive for anti-SSA antibody, was pregnant for 18+6 weeks and was diagnosed with connective tissue disease in Beijing Anzhen Hospital, Capital Medical University. She underwent fetal echocardiography to monitor the AV interval. Eight fetal echocardiographic examinations were performed (). This was the patient’s first pregnancy, which was a natural pregnancy, and the patient had no history of heart disease. The patient was under the guidance of the doctor while the condition was stable. The fetus was well, and biometric measurements were consistent with the gestational weeks. There were no cardiac structural abnormalities.\nThis pregnant woman received hydroxychloroquine 400 mg once a day during pregnancy, and received her first fetal echocardiography at 18+6 weeks of gestation, with an AV interval of 130 ms, which was in the normal range. However, at 24+6 weeks of gestation, the AV interval was prolonged to 143 ms, which was first-degree atrioventricular block. Therefore, human immunoglobulin at 20 g/day was added, and the patient was rechecked after 3 days. The AV interval was 144 ms, which was still prolonged. Therefore, dexamethasone was added at a dose of 3.0 mg/day. However, the AV interval still remained >140 ms, and continued up to full term. The patient underwent cesarean section at 37 weeks, and gave birth to a male neonate, with a birth weight of 2700 g. The amniotic fluid was clear at birth, the Apgar score was 10 points, and the neonate underwent echocardiography and an electrocardiogram () at 15 days after delivery. All results showed first-degree congenital heart block.\nAfter delivery, the two neonates were examined and confirmed to be positive for anti-SSA antibody. These data had been recorded in the medical records. The need for study approval was waived because measurements were taken during routine examinations for the pregnant women. The patients provided verbal informed consent. |
A 47-year-old male individual was involved in a fight and sustained a human bite resulting in almost a complete amputation of his right ear. Only the ear lobe was left intact. The amputated auricle was placed in a plastic bag with saline, surrounded by ice, and brought to the emergency room with the individual. The patient was immediately started on intravenous antibiotics (Ampicillin/Sulbactam 3 g qid plus metronidazole 500 mg qid), and was led to the operating room approximately four hours following the accident. There, it was decided to reattach the ear as a composite graft. In order to enhance the "take", the epidermis and outer layer of the dermis of the posterior aspect of the graft were sharply excised with a scalpel. In addition, multiple small fenestrations were made in the cartilage and posterior-anterior perichondrium. The skin margin of the amputated stump was dermabraded for a distance of 0.5 mm from the edge and a postauricular flap was elevated. Both the graft and the amputated stump of the ear were meticulously cleaned with rigorous use of normal saline and povidone iodine 10%. No injection of topical vasoconstricting agents was used. The anterior skin of the graft was sutured in layers to the amputated stump of the ear and the skin of the helical rim was sutured to the elevated postauricular flap. Two vicryl 3-0 sutures were used for fixation of the graft to the tissues of the mastoid bed (Figure ). A Penrose drain was inserted and a loose bandage was applied. The drain was removed three days later and the patient received additional treatment postoperatively with pentoxiphylline orally (400 mg q8h). Antibiotics were administered for a total period of ten days (five days I.V and five days orally). The patient was strongly advised to stop smoking, and was released from hospital on the 7th postoperative day. The ear developed some epidermolysis during the first 3 weeks following surgery but went on to reepithelialize spontaneously (Figure ). Finally, the replantation was deemed absolutely successful. Three months later, the patient underwent a second operation during which the ear was elevated and the postauricular area was reconstructed with the use of a split-thickness skin graft. No complications have been noted after more than 18 months of follow-up, except of an approximately 10% diminishing in the total size of the auricle compared to the normal side (Figure ). |
A 56-year-old male patient was admitted to our hospital on July 20, 2020. He had been diagnosed as LA myxoma in another hospital by echocardiography on July 17, 2020. He had a history of chest tightness and asthma for 6 months and progressive aggravation for 1 month, which disrupted the sleep. He had no headache, fever, palpitation, edema of lower limbs, and relevant family history. On physical examination, increased breath sounds were noted. Auscultation revealed a grade 3/ 6 tricuspid systolic murmur.\nOn July 21, 2020, high-resolution computed tomography (HRCT) revealed that the cardiac enlargement and showed a lesion with low density in the left side of the heart. (Fig. ). Transthoracic echocardiography (TTE) showed a medium echoic mass measuring 88 mm × 51mm × 43 mm in the left atrium. The mass was attached by a pedicle to the atrial septum and protruded into the left ventricle through the mitral orifice in diastole and returned to the atrium in systole, leading to obstruction of the mitral orifice during diastole. The cardiac atrium was enlarged, and the left ventricular ejection fraction (LVEF) was 65%. (Fig. ). A medium echoic mass measuring 14 mm × 14 mm attached to the LV papillary muscle was also demonstrated by TTE. The mass moved back and forth in the left ventricle. (Fig. ). This was suggestive of LV myxoma with LA myxoma. Additionally, severe tricuspid regurgitation was also found.\nOn July 22, 2020, surgery was performed on the patient which included tumor resection and tricuspid valvuloplasty. During the surgery, pericardium and right atrium were incised longitudinally. Next, part of the atrial septum was opened below the foramen ovale, and the atrial septum was pulled upward for exploration showing two tumors in the left heart, one of which was attached to the atrial septum, and the other was attached to the lateral wall of left ventricle. The two tumors looked crispy, gelatinous with complete capsule. The tumors and the tissues around their pedicles were resected completely. The tumor attached to the atrial septum measured approximately 80 mm × 53 mm × 43 mm, and the other attached to the lateral wall of left ventricle was about 14 mm × 14 mm × 12 mm. The tricuspid valve was then explored, and severe tricuspid regurgitation was found. Ten sutures were placed the valve ring, tricuspid annuloplasty ring was implanted, and no obvious regurgitation was found at this time. After the surgery, the patient was transferred to intensive care unit for close observation.\nOn a subsequent histopathological examination, photomicrograph showed irregular shaped cells loosely dispersed within a mucoid ground substance (Fig. ). The postoperative diagnosis was LV myxoma with LA myxoma.\nTracheal intubation and ventilator-assisted breathing were given after the surgery. Ambroxol was used to prevent pulmonary complications, such as atelectasis; omeprazole was used to prevent stress ulcer, and reduced glutathione was used to protect liver function. Antibiotics were also administered. On postoperative day 2, extubation was performed when the patient was fully awake. On postoperative day 3, antibiotics were stopped, and cardiotonics and diuretics were given.\nOn postoperative day 6, TTE showed mild atrial enlargement, with a left ventricular ejection fraction (LVEF) of 59% and a mild regurgitation in mitral valve, which meant the patient's cardiac condition was well. (Fig. ). The patient was told to rest adequately, avoid strenuous exercise and follow-up every six months. Digital Radiography (DR) revealed mild cardiac enlargement (Fig. ).\nOn postoperative day 8, the patient 's incision healed well and there was no abnormality on physical examination. The patient was discharged on postoperative day 8, and no medication was required post-discharge. A one-year follow-up revealed no recurrence of the lesion, and we are still closely following the patient. The study protocol was approved by the ethics committee and institutional review board of the First Affiliated Hospital of Wannan Medical College [(2019) Ethics research No. 87]. Written informed consent was obtained from the patient for publication of the case details and accompanying images. |
A 45-year-old female, P3003, presented to us with complaints of a lump in the abdomen for 5 months. The patient had no menstrual abnormalities and had no significant past medical, surgical, or family history. Abdominal examination revealed a lump corresponding to 26-week gravid uterus size, and it was firm in consistency with irregular margins and predominantly cystic components. It had restricted mobility and was nontender. Vaginal examination confirmed the presence of an abdominopelvic mass which was felt through all the fornices while pouch of Douglas and rectal fossa were free with no nodularity.\nSince clinical examination revealed an operable mass, the patient was planned for an exploratory laparotomy. She was advised routine preoperative investigations along with tumor markers, namely CA-125, CEA, and CA-19-9, and abdominopelvic computed tomography (CT) scan was advised. All her routine blood investigations were normal along with a normal chest X-ray. Her CA-125 levels were raised to 620 IU/L, whereas rest of the tumor markers were normal. CT scan was suggestive of a large septated cystic lesion in the left adnexa with a few irregular solid foci along with thick homogenously enhancing septa with strong blood flow. The right ovary was not separately visualized, the uterus was found to be enlarged with multiple small fibroids, and rest of the upper abdominal organs were reported to be normal. There were no ascites and no retroperitoneal lymphadenopathy. Based on raised CA-125 and a complex cystic lesion on imaging, provisional diagnosis of a malignant left adnexal mass was made, and the patient was taken up for a staging laparotomy. Intraoperatively, two large multilobulated masses were seen arising from both the ovaries. Both the masses appeared prominently cystic with bosselated surface and no capsular excrescences. The right ovarian mass measured around 12 cm × 12 cm × 6 cm, and the left ovarian mass measured around 22 cm × 17 cm × 14 cm. The uterus was of 12-week size with cut section showing myohyperplasia and multiple intramural fibroids [Figures and ]. There were minimal ascites; hence, peritoneal washings were collected and sent for cytological evaluation. Both the ovarian masses were then removed intact followed by thorough visual and haptic examination of all abdominal organs, omentum, and peritoneal surfaces. Total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed followed by total omentectomy and removal of bilateral pelvic lymph nodes. There was no evidence of any extraovarian and extrapelvic disease on gross inspection, and hence, multiple peritoneal samplings were taken.\nHer fluid cell cytology showed no malignant cells. Histopathology was suggestive of bilateral ovarian pure TCC as there was no evidence of any benign, borderline, or malignant Brenner component, neither was there any serous component identified [ and ]. There was endometrial hyperplasia along with myometrial adenomyosis and leiomyomatosis in the uterus. Immunohistochemistry was done to confirm the diagnosis, and the tumor cells showed nuclear positivity for WT1, cytoplasmic positivity for CK-7 [ and ], and membrane positivity for Ber-EP4. Following histopathological diagnosis of pure TCC, the patient was started on platinum-based chemotherapy and is doing well in the follow-up visits. |
A 42-year-old previously healthy male patient complained of sudden onset of a severe right-sided occipital headache for one day. Although he had dizziness and nausea, findings on his neurological examination were normal. He had no history of trauma or remarkable medical or familial history. Findings on a computed tomographic (CT) scan performed on admission showed no evidence of intracranial hemorrhage. In addition, no abnormality was observed on magnetic resonance imaging (MRI). However, a high signal intensity representing an intramural hematoma was distinguished from a flow-related enhancement of the VA on the source image of time-of-flight (TOF) - magnetic resonance angiography (MRA) (). The MRA showed tapered narrowing of the right VA at the junction of the right VA and PICA, and fusiform dilatation of the anterior medullary segment of the left PICA (). On the lumbar tapping, there was no evidence of SAH. Cerebral angiography performed the next day showed a "pearl and string" sign and a double lumen sign in the right distal V4 segment of the VA involving the origin of the right PICA, indicating a spontaneous dissecting aneurysm (), and focal stenosis with a post-stenotic fusiform aneurysmal dilatation of the left proximal PICA, suggesting a dissection with an aneurysm formation (). Endovascular treatment of the right VA dissection was performed immediately after cerebral angiography: a Prowler Selector Plus microcatheter (Cordis Neurovascular, Miami, FL) was placed through the dissection segment in the right VA; then, two Enterprise stents (Cordis Neurovascular, Miami, FL) were deployed to the right VA dissection site in order to dilate it to cover the dissection (). Several possible treatment options were considered for the suggestive dissecting aneurysm on the left proximal PICA. Finding clues of a dissection in this small vessel was difficult; thus, we could not rule out the likelihood of an originally existing fusiform aneurysm. In addition, the left PICA lesion was technically less available; the diameter of the stenotic segment was too narrow to perform a stent insertion. Therefore, we made the decision to provide conservative treatment. The patient's symptoms showed gradual improvement and he recovered without complications. The second angiography performed at four weeks after symptom onset confirmed that the right VA dissection lesion had not recurred and a reduction was observed in the left PICA dilatation (). This finding suggested that the left PICA lesion was a dissecting aneurysm in a spontaneous healing state. Findings on follow-up vertebral arteriography three months later showed no recurrence of the right VA dissection lesion () and spontaneous resolution of the left PICA dilatation (). |
The patient was a 40-year-old perimenopausal woman, gravida 1, para 0, who presented with lower abdomen pain and a pelvic mass. Her menstruation was regular in the past but began to be irregular 1 year ago. Her dysmenorrhea became increasingly serious, with visual analog scale score varying from 3 to 9, and she had secondary infertility. On physical examination, she had a large uterus with size similar to that at 14 weeks of gestation, a palpable 7-cm solid mass on the left side of the pelvis, and tenderness upon palpation of the posterior cervix fornix. Transvaginal ultrasonography revealed the pelvic mass to be solid, measuring 6.8 × 4.7 cm, with abundant blood flow signal, and is located near the body of the uterus and left ovary; soft nodules, with the largest measuring 1.2 × 0.6 cm, were found on the peritoneum. Pelvic magnetic resonance imaging (MRI) also revealed a high volume of effusion in the pelvic cavity, an irregular occupying lesion on the surface of the fundus of the uterus, and multiple nodules around the lesion; hence, a malignant tumor was suspected (Fig. A and B). Preoperative laboratory studies revealed no abnormalities. Tumor marker cancer antigen (CA) 125 was 372.4 U/mL. With the impression of advanced-stage ovarian cancer with massive ascites, diagnostic laparoscopy was performed.\nDiagnostic laparoscopy revealed a large mass of crunchy tissue and some soft nodules on the surface of the posterior wall of the uterus (Fig. A), some vesicular tissues on the surface of the bilateral ovaries and the right broad ligament, and 2000 mL of bloody ascitic fluid (Fig. B). A small part of the tissue on the uterine surface was removed and sent for frozen-section analysis, which indicated endometriosis. After biopsy, the surface of the mass began to bleed, which cannot be stopped by repeated bipolar electrocoagulation. The surgical procedure was promptly changed into laparotomy with hysterectomy, bilateral salpingectomy, bilateral ovarian biopsy, and excision of the mass of the right broad ligament. To rule out malignant transformation, the biopsy tissues of the bilateral ovaries and right broad ligament were repeatedly sent for frozen-section analysis during the operation, and the results revealed endometriosis. The patient's recovery was uneventful.\nOn gross pathologic examination, the grayish brown nodular mass measuring 9.2 × 6.2 cm was noted on the posterior wall of the serous surface of the uterus (Fig. C). The external surface of the mass was rough. Microscopic examination revealed that the mass was covered with a monolayer of normal-looking endometrial glands and stroma (Fig. A–D), consistent with ordinary endometriosis.\nNo further adjuvant treatment was needed. Three months after the operation, the patient had a good general state without periodic pain, and the CA125 level decreased to 7.8 U/mL.\nThis study was approved by the Ethics Committee of Peking Union Medical College Hospital of the Chinese Academy of Medical Sciences and the ethical code was S-K719. Informed written consent was obtained from the patient for publication of this case report and accompanying images. |
A 76-year-old male with past medical history of hypertension, hyperlipidemia, and diabetes mellitus type 2 was admitted one week priorly with chest pain due to non-ST segment elevation myocardial infarction (NSTEMI). An urgent coronary angiography showed 99% stenosis of the proximal left anterior descending artery (LAD) and 95% stenosis of middle right coronary artery (RCA). The patient underwent PCI with DES. A 2.5 mm × 38 mm Promus DES was placed in the proximal LAD. Three Promus DES were placed in the mid RCA: 2.5 mm × 20 mm, 2.5 mm × 28 mm, and 2.5 mm × 24 mm stent. His peak CK-MB and troponin were 77.4 and 107 ng/L, respectively. The patient was discharged on optimal medical therapy including dual antiplatelet therapy of aspirin and clopidogrel. Due to financial constraints, ticagrelor or prasugrel could not be prescribed. He was seen one week after discharge with no complaints and was compliant with his medications.\nThe patient presented eight days after the index hospitalization with severe, crushing, substernal chest pressure. The electrocardiogram showed ST segment elevation in the inferior and anteroseptal leads (). An emergent coronary angiogram was performed revealing 100% occlusion of the proximal LAD and mid RCA due to in-stent thrombosis (Figures and ). The patient also developed sustained ventricular tachycardia prior to PCI that was terminated with external defibrillation. Successful PCI with aspiration thrombectomy and balloon angioplasty was performed using a 2.5 mm × 15 mm NC quantum Apex balloon to the proximal LAD and middle RCA lesion (Figures and ). The patient also developed multiple episodes of symptomatic sinus bradycardia that resolved with atropine and placement of a temporary transvenous pacemaker. We suspected clopidogrel resistance; hence the patient was treated with aspirin and ticagrelor therapy. Further laboratory testing confirmed that patient had homozygous polymorphism of CYP2C192. This is an established cause of poor clopidogrel metabolism leading to reduced levels of active clopidogrel metabolite. This was the likely cause of two-vessel stent thrombosis leading to STEMI. The patient was monitored in the cardiac intensive care unit with no further events and there was improvement in ST segment elevation on repeat electrocardiogram (). A transthoracic echocardiogram showed severe diffuse hypokinesis with abnormal left ventricular relaxation, an ejection fraction of 20%, and no significant valvulopathies. His peak CK-MB and troponin were 113 and 23.9 ng/L, respectively. He was recovering well without any further cardiac events at one-month and three-month clinic follow-up. |
A 62-year-old male was referred to our department complaining of proptosis and diplopia in his right eye for the past 2 months. He also noticed a rapidly increasing swelling in the superior position of the right orbit 1 month ago. He had surgery twice previously: the first for a bladder carcinoma 12 years ago, and the second for an intracranial ONB in the frontal lobe and saddle area 6 months ago. Adjuvant postoperative radiation therapy was given after the craniotomy. His father died of esophageal carcinoma.\nThe ocular examination revealed proptosis and mild infratemporal deviation with limited eyeball movement. The fundus examination showed mild retinal edema and venous congestion. The visual acuity of the right eye was decreased to 5/12 with normal intraocular pressure. A focal, firm, nontender swelling with ill-defined margins was found through palpation in the upper position of the right eye. Lymph node enlargement was not detected on palpation. An unenhanced CT scan of the orbit was performed in the axial section with coronal and sagittal reconstructions. CT showed a homogeneous, isolated, ill-defined soft tissue mass in the right orbit. The right eyeball was displaced anteriorly and inferiorly (). Enhanced imaging examination was not performed due to renal dysfunction.\nExtirpation of the lesion by anterior orbitotomy was performed under general anesthesia. A 4.0 cm incision through the skin along the supraorbital margin enabled adequate exposure of the neoplasm. The neoplasm was carefully detached from the normal tissues by blunt dissection. The mass measured ~2.5×2.5×2.0 cm.\nHistopathological examination suggested that it was a highly cellular, infiltrative tumor. Tumor cells were seen in irregular shaped nests surrounded by avascularized fibrous stroma (). The monomorphic malignant tumor cells are small round blue cells that are slightly larger than mature lymphocytes, with a very high nuclear to cytoplasmic ratio. Immunohistochemistry study was positive for SYN, CGA, CD56, CK, VIM, S-100 protein staining and negative for EMA and CD99 marker (). Histological findings along with immunohistochemical staining results led to the diagnosis of orbital ONB which was consistent with primary tumor in the brain. The patient was advised to undergo radiotherapy and was referred to the department of radiation oncology. |
A 54-year-old housewife without any significant previous medical history, or any neurological problem presented with a transient loss of consciousness followed by headache and confusion. She had no history of movement or cognitive disorder prior to this event. No family history of subarachnoid hemorrhage or cognitive disability was obtained. On presentation her vital signs were stable and her blood pressure normal. She was drowsy and displayed signs of meningeal irritation. Her obtunded state was transient as she improved rapidly and soon became fully oriented. Her blood investigation, which included coagulation profile, blood cell count and serum electrolytes, was normal. Brain computerized tomography (CT) showed two major findings: first, diffuse bilateral subarachnoid hemorrhage involving the basal cisterns and both Sylvian fissures; and second, extensive calcification involving the basal ganglia, thalamus, corona radiata, and deep cerebellar nuclei [].\nFormal cerebral angiography revealed a right posterior communicating artery aneurysm as the probable source of the SAH. It measured 7.8 × 5.7 × 4.2 mm with a neck of 3.3 mm. An attempt at coiling this aneurysm failed because of a tortuous internal carotid artery precluding safe access to the aneurysm [].\nThe patient was thereafter taken to the operating room where she underwent a right pterional craniotomy and clipping of the posterior communicating artery aneurysm. Her postoperative course was complicated by a right-sided upper extremity monoparesis due to a small middle cerebral artery territory ischemic infarct. However, over the following days she improved but experienced mild vasospasm that was treated medically with Euvolemia and Milrinone. She was also investigated for disorders that may cause abnormal calcium deposition which proved negative. Her serum calcium, phosphorus, and alkaline phosphatase were normal. The patient was eventually discharged from the hospital to a rehabilitation program where she showed significant improvement. The 6-month follow-up angiogram revealed no new aneurysms and no recanalization of the clipped aneurysm. |
We present the case of a 66-year-old male patient with a condition of progressive dysphagia of five-year evolution, who two years ago presented a protrusion of mass in the oral cavity provoked by Valsalva maneuver or intra-abdominal pressure increase. The patient was referred to our institution with diagnosis of Zenker's diverticulum. During the first consultation, the protrusion of a well-defined elongated mass was confirmed via oral cavity with the Valsalva maneuver (). A barium esophagogram was conducted without revealing the presence of esophageal diverticulum; contrasted neck CT scan showed no abnormalities or presence of masses. Upper gastrointestinal endoscopy evidenced partial occupation of the esophagus by an elongated mass, with soft consistency, approximately 16 to 23 cm from the dental arch.\nWith the previous findings, it was decided to bring the patient to surgery for identification and extraction of the mass. Under general anesthesia, intraoperative esophagoscopy was performed with identification of the pedunculated mass dependent on the left cricopharyngeal region and extrusion by means of an endoscopic loop; the lesion was resected from its pedicle with harmonic scalpel (Figures and ).\nThe histological analysis of the lesion revealed a 6 × 2.5 × 1.5 mm dependent soft-tissue, polypoid circumscribed lesion, lined by stratified squamous epithelium without dysplasia, constituted by spindle cells without atypia and mature adipose tissue, without observing atypical mitosis (). The immunohistochemical profile revealed positivity of spindle cells for CD34, negativity for S100, and a low proliferation with Ki57, which confirmed the diagnosis of spindle cell lipoma and revealed its benign behavior ().\nThe patient had satisfactory postoperatory evolution, with initiation of diet on the second day and discharged on the third day, without respiratory distress, dysphagia, or any other symptomatology. Endoscopic control was conducted one week later with evidence of a healthy scarred stump. Upon control one year after the procedure no lesion recurrence was registered. |
An 81-year-old Caucasian female presented to the emergency department with a 1-day history of acute epigastric pain. The pain was described as sharp and severe with radiation to the right upper quadrant, which was associated with nausea but no vomiting, jaundice, fever, diarrhea, constipation, or chills. Although the pain was initially provoked by a fatty meal (“hamburger and soup”), the patient did elaborate that these symptoms had been going on for several years but were unrelated to fatty food consumption. The patient had a past medical history significant for chronic hypertension, arthritis, hypercholesterolemia, hypothyroidism, and depression. Family history was significant for pancreatic cancer in the patient’s mother. Physical examination noted vitals to be within normal limits with pain to palpation in the right upper quadrant, left lower quadrant, and right lower quadrant. A timeline of the events pertaining to the case, as well as the corresponding leukocyte counts for each day, is represented in Fig. .\nOn admission to the hospital, laboratory results were obtained and noted a leukocyte count of 12,000/µL with normal liver enzymes and total bilirubin. Subsequent computed tomography (CT) demonstrated a distended gallbladder with gallbladder wall thickening, and an abdominal ultrasound (US) also showed distention of the gallbladder (as well as a thickened gallbladder) wall with a dilated common bile duct. Based on these findings, the patient was diagnosed with acute cholecystitis and scheduled for a laparoscopic cholecystectomy the following day, while being managed with intravenous saline and Mefoxin. Zofran and hydromorphone were also used as needed for nausea and pain, respectively.\nOn the day of the surgery, laboratory tests were obtained a second time, which showed an elevated leukocyte count of 16,700/µL and aspartate aminotransferase (AST) of 59 units/L but a normal alanine aminotransferase (ALT) and total bilirubin. During surgery, the patient was placed under general anesthesia in the supine position and prepped for laparoscopic cholecystectomy. A skin incision was made supraumbilically for the insertion of a 12 mm Optiview port. The abdomen was also insufflated with 15 mmHg of carbon dioxide pressure, and a camera was subsequently inserted into the 12 mm port. Intraabdominal visualization showed a necrotic gallbladder with a large amount of bloody ascites and inflammation to the peritoneum. This discovery prompted the conversion to an open cholecystectomy. A skin incision was then made along the right subcostal margin with a 10-blade scalpel. Bovie electrocautery was used to cauterize any bleeding skin edges and assist with dissection. The anterior rectus fascia, the rectus muscle, and posterior fascia were divided using the Bovie as well. An opening was made in the peritoneum so that the surgeon’s hand could be used for blunt dissection/identification of the triangle of Calot. Upon visual inspection and dissection, the gallbladder was noted to be free floating (no adhesions to the liver) and twisted clockwise 360° around the cystic bile duct while being tethered to the cystic bile duct and cystic artery. The gallbladder was consequently untwisted twice and resected. The abdomen was then irrigated with a liter of normal saline solution, and a drain was introduced through a separate stab incision and placed along the liver edge to relieve any additional buildup of bloody fluid within the abdominal cavity. |
We present a case of a 54-year-old Chinese man with a history of treated hypertension and diabetes mellitus, referred for suspected spontaneous left dural CCF. The patient complained of a chronically red left eye and double vision in the left gaze. Initial examination disclosed best corrected visual acuity 20/20 in the right eye and 20/25 in the left eye, associated with a left relative afferent pupillary defect and severely reduced color vision on Ishihara testing in his left eye only. Humphrey visual field assessment disclosed diffuse defects in the left eye, but was normal in the right eye. Slit lamp examination disclosed a red left eye with dilated corkscrew vessels, but no evidence of angle closure, blood in the Schlemm canal, or other causes of raised intraocular pressure. Intraocular pressure (IOP) was 28 mmHg in the left eye, and 14 mmHg in the right, healthy eye. Fundoscopy disclosed dilated retinal veins on the left side, but no venous stasis retinopathy, or choroidal detachment. The remainder of the ophthalmic examination disclosed mild left abduction deficit, mild ptosis and 3 mm proptosis on the left side. Partial embolization of the angiographically confirmed left dural CCF resulted in incomplete clinical recovery: despite complete regression of the left optic neuropathy and of the left abduction deficit, the left eye remained red, associated with raised intraocular pressure requiring topical medication. Optical coherence tomography angiography of the anterior segment was performed, using a described technique [], with optic disc imaging as well using the AngioVue (Optovue Inc. Fremont, CA, USA). Our study followed the principles of the Declaration of Helsinki, with informed consent obtained and ethics approval obtained from our local Institutional Review Board (CIRB Ref no: 2015/3078). OCTA showed engorged episcleral vessels, which were better delineated than using clinical evaluation alone (Fig. ). The OCTA was able to analyze the location and depth of the tortuous, abnormal vessels, as well as the increased flow detected on the B-scan cross-sectional OCTA scans (Fig. ). Posterior pole OCTA of the affected eye disclosed glaucomatous nerve damage and reduction in the peripapillary flow (Fig. ) []. |
A 62-year-old woman was referred to our hospital with chest discomfort ongoing for 2 weeks. She had chronic renal failure secondary to malignant hypertension. She had been undergoing dialysis for 27 years. Her symptoms worsened when she took a deep breath, and she had experienced palpitations for a few hours before her arrival. At the time of her visit, her blood pressure was 85/54 mmHg, pulse rate was 150 ppm, and SpO2 was 95% (room air). An electrocardiogram (ECG) demonstrated atrial fibrillation, which spontaneously converted to sinus rhythm within 1 h. Subsequently, the palpitations disappeared and the blood pressure increased to 100/62 mmHg. The sinus rhythm on the ECG showed a slight degree of ST elevation in the broad leads, especially in leads I, II, and aVF (). A transthoracic echocardiogram (TTE) showed that the left ventricular wall motion, thickness, and size were within normal range. No valve dysfunction was observed. Diffuse mild pericardial fluid was seen. The maximum thickness of the fluid was 6 mm at the anterior right ventricle; however, no findings suggestive of heart chamber collapse were evident (, Videos S1A and B).\nA blood test showed creatine kinase and creatine kinase-MB levels in the normal range. The C-reactive peptide and high-sensitivity Troponin I levels were elevated (5.2 mg/dL and 86 ng/mL, respectively). Plain and contrast-enhanced chest computed tomography (CT) was performed (). No findings indicated either aortic dissection or pulmonary embolism. The CT value of pericardial effusion was 35–74 HU, which indicated the bloody effusion. However, no contrast agent was observed in the pericardium. We diagnosed the patient with pericarditis and hospitalized her for treatment and observation for her pericardial effusion. Her inflammatory marker levels became normal, and the ST changes disappeared after several days with no medications. She had no chest pain and the creatinine kinase level was within normal range during the hospitalization. Her blood pressure during hospitalization was 120–140/80–90 mmHg. On Day 9 after hospitalization, the effusion increased (12 mm at the anterior right ventricle) and caused a mild diastolic collapse of right atrium; however, her haemodynamics remained stable. On Day 11, the pericardial effusion decreased significantly when compared with that on admission (5 mm at the anterior right ventricle).\nOn Day 13, after haemodialysis, she again experienced precordial discomfort and she had a sudden cardiopulmonary arrest (CPA) on the bed. The cardiac rhythm was pulseless electrical activity. Cardiopulmonary resuscitation was quickly initiated and a return of spontaneous circulation was achieved. A markedly increased pericardial effusion and chamber collapse which caused a cardiac tamponade were observed on the TTE. The systolic blood pressure was 60 mmHg. We performed pericardial drainage, and 300 mL of bloody fluid was drained. A blood test showed the troponin I level was 59.5 pg/mL. The emergency coronary angiography showed no significant abnormality of coronary artery forms. Mild stenosis was observed in the right coronary artery and the left circumflex artery (LCX). The middle part of the left anterior descending artery and the diagonal branch had severe stenosis with calcification. No coronary flow limitation was observed; however, the extravasation of contrast into the epicardium was seen from the branch of the LCX (Ellis classification: Type III) ( and , Video S2A). The patient was diagnosed with SCAR. The ruptured vessel was small, so we thought that the coil embolization would work for stopping the bleeding. The extravasation of contrast agent disappeared after inserting three coils ( and , Video S2B).\nDespite the steadiness of the patient’s haemodynamics after the coil embolization, she went into an irreversible coma. It took 21 min to return to spontaneous circulation from CPA. A head CT performed 6 days after the CPA showed an unclearness of the corticomedullary junction, which suggested cerebral hypoxia. Electroencephalography performed 5 days after the CPA indicated a continuous low voltage and semi-rhythmic delta activity, which suggested diffuse encephalopathy.\nAt 20 days after the CPA, she died from pneumonia. An autopsy revealed no specific findings in the coronary artery, such as aneurysm or dissection. Pathologically, intimal hypertrophy and medial thinning, which are common in atherosclerosis, were observed at the point of rupture. A rupture of the internal elastic layer was observed; however, no necrosis or inflammation was evident (). |
A 27-year-old male salesman, right hand dominant, was seen in the Emergency Department following a fall on to the outstretched hand while playing a game of rugby. He noticed immediate pain and swelling of the left wrist. Upon examination there was diffuse swelling on the dorso-medial aspect of the wrist. Tenderness was noted overlaying the ulna styloid process. He was non-tender to all scaphoid landmarks, metacarpals and phalanges. There was restricted range of motion of the wrist but full range of movements of the digits. There was no distal neurovascular deficit. The radiological examination of the left wrist was interpreted by the emergency doctors as no bony injury. A diagnosis of wrist sprain was made and was therefore treated with analgesia, ice application and a wrist splint as per local policy.\nThe X-rays of the patient was later reviewed by the duty radiologist and reported as a suspected dislocation of the pisiform bone, Fig. . Therefore the patient was recalled to the trauma clinic after three days. He was reassessed and a further three dimensional scan of the wrist was arranged. The CT scan demonstrated distal dislocation of the pisiform which appeared to lie in a ‘locked’ position beyond the distal triquetrum, Fig. .\nThe patient was taken to theatre the following day where a closed reduction of the dislocated pisiform was attempted, however it was unsuccessful. Therefore we then proceed to an open reduction. This was performed through a volar approach through the flexor carpi ulnaris tendon where the piso-hamate joint was exposed and a capsular release performed. This allowed the pisiform to reduce back in to the anatomical position Fig . The wrist was immobilized in a neutral position. The patient was followed up in the clinic in two weeks, six weeks, three and six months. The check X-ray performed at the end of six months demonstrated the pisiform remain well reduced, Fig . He subsequently regained full a range of motion within the wrist and was further discharged from the clinic. |
A 61-year-old man experienced sudden onset of right lower chest pain before visiting the emergency room. The chest pain began 2 days ago and was aggravated the next day, followed by blood tinged sputum. He smoked 1 pack of cigarette every day for 13 years and had no other identified cardiovascular risk factor. He was diagnosed with chronic hepatitis B virus infection 30 years ago. He had been taking tadalafil for 2 years, usually once a week for erectile dysfunction. He denied taking any other medications.\nApproximately 15 hours before developing chest pain, he took one dose of tadalafil before attempt of sexual contact. Afterwards he had sexual intercourse with two different women with time interval of about 8 hours. Few hours after the second sexual intercourse he experienced sudden onset of right lower chest pain. The pain aggravated the next day and hemoptysis occurred the day afterwards which led him to visit the emergency room.\nHis initial blood pressure was 123/99 mm Hg, heart rate 69 beats/min, respiration rate 20 frequencies/min, body temperature 36.8℃, oxygen saturation 96%. The mental status was oriented. Auscultation revealed no heart murmur but breathing sound was decreased on his right lower lung field. There was no pitting edema or clubbing seen in the four limbs. The chest X-ray showed ill-defined density in the right lower lung zone with blunted costophrenic angle (). Electrocardiography revealed Q wave in lead III and aVF and poor R progression. D-dimer was increased to 0.6 µg/mL (normal, less than 0.4) and chest computed tomography was performed with suspicion of acute pulmonary thromboembolism. Thrombus was seen at right ascending and descending subsegmental pulmonary arteries along with wedge-shaped lesion in right lower lobe. Small amount of right pleural effusion was also noted (). Blood analysis showed normal concentrations of protein C (98%), protein S (83%), antithrombin III (97%), factor XI (124%) and elevated concentrations of factor VIII (222%). Tests for lupus anticoagulants, factor V Leiden mutation and anticardiolipin antibodies were also negative. The patient was treated with anticoagulation therapy of 80 mg of enoxaparin (1 mg/kg) subcutaneous injection every 12 hours and oral warfarin. When the warfarin dosage was adjusted to keep prothrombin international normalized ratio between 2 and 3, enoxaparin was no longer used. Oral anticoagulation was maintained for 6 months and the patient made full recovery confirmed by chest computed tomography. |
A 75-year-old male patient presented with abdominal pain and with a past medical history significant for hypertension, gastroesophageal reflux disease, and anemia. An abdominal exam was positive for right upper quadrant tenderness. Laboratory findings revealed normal complete blood count, normal renal panel, but mildly elevated liver enzymes (aspartate aminotransferase (AST) = 66, alanine aminotransferase (ALT) = 38). A computerized tomography (CT) scan of the abdomen and pelvis showed a hyper-vascular mass in the left lobe of the liver. CT-guided biopsy of the mass showed HCC. The patient underwent exploratory laparotomy, total left hepatic lobectomy, and cholecystectomy. Active post-surgical surveillance with alpha fetoprotein (AFP) and CT scan of the abdomen was done for three years with no evidence of disease recurrence. Three years after initial presentation, the patient noticed a mass below the xiphoid process. AFP was elevated at 2751 mcg/L (normal 10–20 mcg/L). A CT scan of the abdomen showed a large anterior subxiphoid abdominal wall soft tissue mass measuring 8 x 6 cm with multiple small satellite lesions consistent with metastatic disease (Figure ).\nBased on the elevated AFP and CT findings, the patient was considered to have relapsed metastatic HCC. He was started on standard therapy with sorafenib 200 mg orally twice a day for a week, then 400 mg orally twice a day. His course of treatment was complicated with hand-foot syndrome and the sorafenib dose was reduced from 400 mg to 200 mg twice daily. After five months of therapy with sorafenib, AFP increased from 2751 mcg/L to 8877 mcg/L and a repeat CT scan of the abdomen showed that the mass in the subxiphoid area was larger. With disease progression and failure of sorafenib, the patient was given the option of palliative care versus pembrolizumab on a compassionate use basis. After informed consent to individual therapy, off-label treatment with the anti-PD-1 antibody pembrolizumab (2 mg/kg every three weeks) was initiated. After six cycles of therapy, a CT scan of the abdomen showed a major decrease in subxiphoid mass size from 8 x 6 cm to 4 x 1.6 cm (Figure ) and AFP dropped from 8877 mcg/L to 1.7 mcg/L. The patient tolerated therapy with pembrolizumab without adverse effects. |
An eight-year-old male presented to the emergency department in July 2020. He had fallen from a bicycle and landed on his left (non-dominant) arm with a visible deformity of the elbow. It was initially reported that his arm was cold and pulseless. However, by the time he attended the Accident and Emergency Department, his capillary return was reasonable. Plain film examination confirmed the diagnosis of posterohumeral dislocation (Figure ), and the patient was manipulated under general anaesthesia in the theatre (Figure ).\nPreoperatively, it was noted that he had numbness in the distribution of the median nerve. Postoperatively, his pulses were restored and the arm was well perfused and warm. However, his sensory and motor median nerve symptoms persisted. The patient was put in an above elbow back slab and discharged the following day. At the one-week follow-up, it was noted that his median nerve symptoms persisted, with weakness of the flexor digitorum profundus (FDP) and the flexor pollicis longus (FPL) of the index finger. However, there was evidence of some recovery with active flexion of the FDP to the index finger, but the FPL was not recorded as showing evidence of reinnervation at that time. These findings were found to persist on clinic assessment one month after the injury. The patient continued with weekly physiotherapy until December 2020 when thenar wasting and persistent difficulty moving the fingers in his left hand, although without sensory symptoms, became apparent. On examination, he was found to have wasting of the thenar musculature and weakness of the abductor pollicis brevis (APB). He also had weakness of the FPL and the FDP. Median nerve sensation was intact but altered, and he had normal ulnar and radial nerve function. Plain film examination demonstrated abnormal ossification of the medial ossification centre (Figure ).\nThe patient had persistent neurological symptoms and paraesthesia in the median nerve distribution, and an ultrasound was requested to assess the median nerve. To confirm the median nerve entrapment, ultrasound was performed and the ulnar nerve was assessed. The median nerve appeared normal in echogenicity in the short and long axes (Figure ) at the level of the distal arm. However, as it passed deep to the bony landmark of the medial epicondyle ossification centre, it was seen to appear kinked and deviated posteriorly. Although the nerve at this point was obscured by acoustic shadowing, it was visualized proximally as it exits the osseous tunnel. It demonstrated hypoechoic echotexture at this point, raising the possibility of intraneural oedema. This was best assessed on long-axis images in the proximal forearm (Figure ).\nThe ulnar nerve was also assessed on ultrasound. It appeared normal in echogenicity, size, and morphology along its course. Urgent MRI was performed to fully characterise the course of the median nerve. MRI of the elbow confirmed the abnormal course of the medial nerve, with an abrupt posterior course at the level of the medial epicondyle, as well as an impression of local osseous encasement before coursing anteriorly into the forearm (Video ). The nerve demonstrated increased signal on short inversion time inversion recovery-weighted images, but appeared contiguous with significant thickening of the nerve just proximal to the osseous tunnel and distally within the forearm. The ulnar nerve appeared normal in signal and position on MRI. There was minor oedema of the FDP muscle body, suggestive of denervation changes (Video ).\nSurgical exploration and operative mobilization of the medial epicondyle was performed with release of the median nerve from the osseous tunnel. The median nerve was seen distally and proximally during the operation. It was traced to an osseous tunnel between the medial epicondyle and an apophyseal fracture fragment. The immature bony callus was removed and the medial epicondyle was successfully mobilized. The median nerve was released from the osseous tunnel. A significant proportion of the median nerve was found to have been damaged and, after freshening of the edges, end-to-end anastomosis without tension was performed.\nAt his most recent postoperative follow-up visit six months postoperatively, he had recovered median nerve sensory and motor function. He now had 4+/5 motor strength of the FPL and FDP to the index finger. He had no further paraesthesia and had a normal sensory examination. |
A 23-year-old woman was admitted with chest distress and difficulty breathing. The patient said that 1 week prior, she had symptoms of fever, bloody stools and headache, and oral antibiotics did not relieve the symptoms. On admission, the vital signs observed during the physical examination were as follows: body temperature, 39.6 °C; blood pressure, 82/41 mmHg; pulse, 116 beats/min; and saturated oxygen in arterial blood, 91%. Chest CT results showed that extensive blurring in both lungs, and diffuse inflammation of both lungs was considered (). In the context of the COVID-19 pandemic, we first considered the possibility that the patient might have COVID-19; however, only 2 h later, the result of a nucleic acid test of a throat swab was negative, which helped us rule out COVID-19. At the same time, an emergency blood test showed that her white blood cell count was 2.48 × 109/L, with a neutrophil percentage of 90.3% and a lymphocytes percentage of only 3.1%. Given the large disparity in the percentages of lymphocytes and neutrophils, we were more inclined to suspect infections with microorganisms other than viruses.\nOther examination results were as follows: the levels of procalcitonin (PCT) was 24.55 ng/mL, respectively. According to the above examination results, the patient had a serious infection. Given the patient's high PCT level and clinical symptoms, we considered a bacterial infection, but the low white blood cell and neutrophil levels made it impossible for us to rule out other infections. We have obtained more information about the patient's situation and found that she had lost 5 kg in 3 months and experienced joint pain, but she did not pay attention to these symptoms at the time. Therefore, we had reason to suspect she may be infected with HIV. However, the examination results showed that the HIV antibody level was within normal limit, which forced us to reconsider. Due to the possibility of a fungal or bacterial infection and the need to gain control over that infection immediately, the broad-spectrum antimicrobial drugs imipenem and fluconazole were administered.\nOn the second day of admission, the blood gas analysis results showed that the patient's arterial oxygen partial pressure had decreased to 50 mmHg, and her partial pressure of carbon dioxide was 75 mmHg. The patient was diagnosed with type I respiratory failure. At the same time, the patient's oxygen saturation level decreased from 90 to 70%. Therefore, endotracheal intubation with mechanical ventilation was performed, and the synchronized intermittent mandatory ventilation (SIMV) was selected as the ventilator mode. The tidal volume was 350 ml (her current weight was 50 kg), the positive end-expiratory pressure (PEEP) was 3 cmH2O, the oxygen concentration was 35%, and the frequency was 12 times/min. The patient's oxygen saturation was maintained at 100%. At that point, the patient had met the diagnostic standard for severe pneumonia. In addition, the patient's liver function and renal function were impaired to varying degrees: her creatinine level was 293 μmol/L, her alanine aminotransferase level was 66 U/L, her aspartate aminotransferase level was 121 U/L, her platelet count was significantly reduced to 37 × 109/L, and her urine volume was also reduced to < 0.5 ml/kg/h. However, all the above indexes had been normal before disease onset. The patient was given conventional treatments such as inhaled oxygen, fluid replacement, antitussive treatment, diuresis and liver protection, and antibiotics continued to be administered. Her blood pressure remained at approximately 110/70 mmHg on dopamine.\nConsidering that the results of blood and sputum cultures take time to be returned and substantial wet rales could be heard in both lungs on auscultation, we performed fibreoptic bronchoscopy to enable us to identify the pathogen and provide the appropriate treatment as soon as possible. A large amount of white mucous was found in the airway during the procedure, and bronchoalveolar lavage fluid (BALF) () was obtained for next-generation sequencing (NGS). The gene sequencing results for the pathogenic microorganisms were as follows: the relative abundance of T. whipplei was 99.4664%, and the sequence number was 5,668 (fungi, parasites, chlamydia, mycoplasma, mycobacterium and other types of bacteria were not detected) (). After identifying the pathogen as a gram-positive bacterium, fluconazole was discontinued, and imipenem was maintained. In the following week, we re-examined the patient's laboratory parameters (, ), and the patient's overall performance had slightly improved.\nHowever, on the seventh day of admission, her PCT value decreased significantly. However, there was a slight rebound in her white blood cell count, and the patient's body temperature also remained at approximately 38 degrees Celsius and did not return to normal. Even more striking was the fact that her chest CT findings worsened (). At the same time, the drug sensitivity results of the bacterial culture were obtained. Unfortunately, the results of the bacterial culture of patients showed that the main pathogenic bacterium had changed from T. whipplei to carbapenem-resistant A. baumannii, which was resistant to all tested antibiotics.\nAfter careful consideration, treatment with the previous antibiotics was stopped, and we made the decision to treat the patient empirically by adding polymyxin B to our treatment plan, given that there were no other drugs available because the A. baumannii was resistant to all tested antibiotics. Fortunately, the patient's condition gradually returned to normal. Her liver function, kidney function (), platelet count and infection indexes improved significantly (), although her chest CT scans showed that the infection in the lungs had improved only slightly after treatment (). Twelve days after admission, the patient's respiratory function had improved, and she was weaned from the ventilator and extubated. All antibiotics were discontinued on the 15th day after admission, and the patient was able to get out of bed and perform simple activities 16 days after admission. She was discharged 18 days after admission. |
A 47-year-old male presented to the emergency department with severe abdominal pain and headache.
The patient was diagnosed with C4 American Spinal Cord Injury Association (ASIA) impairment scale A due to a car accident 23 years prior. The patient had a good motor grade at the C5 (elbow flexion) and C6 levels (wrist extensor), and zero grade at all levels below C6. For sensory grade, there was altered sensation below the C4 level on right side and C5 on left side, and no sensation below the T1 level (Figure ). The patient had been using the CIC method for management of neurogenic bladder. He was able to sense bladder fullness by an itching sensation in the nose, at which time a caregiver would empty the bladder with CIC. This was maintained for approximately 23 years. The urine volume emptied by the bladder filling sense was usually 300-400 mL, and the discomfort of nasal itchiness was mild and measured two points on a visual analog scale (VAS). One day, the patient's catheterization was delayed for about five hours since the feeling of bladder fullness. Subsequently, he had to visit an emergency room for severe abdominal pain and headache.
At the time of the car accident with cervical cord injury 23 years earlier, the patient had a fracture of the left femur and underwent fixation surgery. Subsequently the patient underwent transfemoral amputation of the left lower extremity 7 years later due to malunion of the left distal femur fracture.
The patient had an unremarkable family history.
Bladder overdistension (800 mL) and high systolic blood pressure (SBP, 205 mmHg) were noted. An indwelling catheter was inserted, and blood pressure was controlled with a calcium channel blocker (nifedipine 80 mg/d) and nitrates (isosorbide dinitrate 2.5 mg).
After the emergency treatment, the indwelling catheter was removed. Normal SDBE was expected as before the |
The patient was a 68-year-old woman who was diagnosed with bilateral mixed severe hearing loss due to chronic otitis media (right ear, postoperative cholesteatoma plus tympanosclerosis; left ear, tympanosclerosis). She had undergone a tympanoplasty for the right cholesteatoma at the age of 55 years. She had worn a hearing aid on her left ear since she was 57. Revision surgery for cholesteatoma recurrence was conducted at Shinshu University Hospital when she was 66 years old. No ear ossicles were found except for the footplate, which was fixed, and tympanosclerotic lesions were found in the tympanic cavity. Reconstruction surgery was then conducted at the age of 67 years. The ossicular chain was reconstructed using a cartilage and the mastoid cavity was obliterated, with no resulting hearing improvement. She suffered with bilateral hearing loss and was not satisfied with hearing aid usage.\nOtoscopic examination revealed an expansion of the right external auditory canal and a sclerotic lesion on her left tympanic membrane (). A pure-tone audiometric examination showed bilateral mixed hearing loss (). Average air conduction hearing loss was 73.8 dBHL in the right ear and 68.8 dBHL in the left ear. The average air–bone gap was 41.3 dB in the right ear and 36.3 dB in the left ear. Her maximum speech discrimination score with monosyllables was 55% (100 dB) in the right ear and 85% (100 dB) in the left ear. We evaluated the effect of her conventional hearing aids as follows. (1) Speech discrimination scores with and without the hearing aids. (2) Questionnaire regarding background noise with the hearing aids. (3) Warble tone threshold level with and without the hearing aids. (4) Speech discrimination scores with the hearing aids in quiet and in noise. (5) Questionnaire with and without the hearing aids. She did not pass items number 2–5, according to the guideline for adaptation tests of conventional hearing aids (2010) in Japan. Computed tomography (CT) of the temporal bone showed poor development of both mastoid cavities, sclerotic lesions in both tympanic cavities, and sclerosis in both RWs ().\nWe judged that it was difficult to improve the hearing loss in the patient's left ear by tympanoplasty, because her left conductive hearing impairment was also caused by tympanosclerosis, as in the right ear. The hearing aid evaluation tests revealed that the hearing aid's effect had been inadequate ( and ). The maximum speech discrimination score in the right ear was much worse than that in the left ear. We performed a RW-Vibroplasty with VSB in her left ear.\nThe surgical procedure consisted of a VSB implantation using a retroauricular approach. We found sclerotic lesions in the middle ear cavity and the RW and fixation of the stapes. The bony lip of the RW was drilled down until the RW membrane could be seen. However, drilling down the bony lip until the FMT could be placed completely on the RW membrane meant that a perilymphatic fistula might possibly be induced because of injury to the RW membrane. Therefore, to prevent the occurrence of a fistula, we decided to use the RW-Coupler, which is designed to fit smaller RW diameters, and were able to confirm good coupling (). Perichondrium was placed in contact with the RW membrane, with the FMT interposed and wrapped with the perichondrium.\nFitting of the VSB's audio processor (Amadė®) was performed at 2 months following implantation. Warble tone threshold level at the first fitting according to the postoperative audiogram () showed that functional gain at low frequencies (0.25–1 kHz) was low (). Amplification was elevated at the low frequencies and the final threshold level was calculated in . The audiologic outcomes 3 month after VSB fitting are shown in . The evaluation tests consisted of the following. (1) Speech discrimination test for monosyllables at 60, 70, and 80 dBSPL. (2) Questionnaire for environmental noise (sentences 65 dBSPL and noise 60 dBSPL in the following conditions: a train station platform, a major intersection, a rub sound with a plastic bag, the sound of dishes being washed). (3) Speech discrimination tests for monosyllables in noise (noise at 60 dBSPL and monosyllables at S/N + 0, 5, 10 dB). Speech and noise signals were delivered by two speakers frontally placed at a distance of 1 m from the center of the subject's head. Speech discrimination scores in quiet and noise and functional gain with the VSB were better than those with the conventional hearing aid. Good placement of the FMT with RW-Coupler at the RW was confirmed 3 months after implantation ().\nThis study was approved by the Ethics Committee of Shinshu University School of Medicine and written consent was obtained from the patient. |
A 33-year-old man was admitted to the otolaryngology unit of our hospital for surgical removal of a large goiter. The patient had initially noticed a small swelling 6 years previously, but it had rapidly grown to the present size during the previous 1 year. He had no dysphagia, cough, noisy breathing, or hoarseness. The patient had hypertension that was controlled without medication. His blood pressure was maintained within a normal range. The patient was 177.4 cm tall and weighed 121.7 kg, and his body mass index was 38.7 kg/m2. The patient’s neck flexion and rotation were minimal because of the large goiter; however, he had adequate mouth opening, and his Mallampati score was 3. The preoperative examination showed increased concentrations of aspartate aminotransferase (54 IU/L) and alanine aminotransferase (71 IU/L). His blood count, renal profile, and arterial blood gases were normal. His thyroid function test result was also normal. A thyroid computed tomography scan revealed a 10- × 10-cm cystic mass with inner calcification in the right thyroid lobe and tracheal displacement. Pathological findings from preoperative ultrasonography-guided fine needle aspiration showed a benign follicular nodule. A right thyroid lobectomy was planned to remove the large goiter. Because of the patient’s obesity and large goiter, difficult endotracheal intubation was expected, and anesthesia was prepared accordingly.\nOn the day of surgery, the patient was premedicated with an intramuscular injection of glycopyrrolate 0.2 mg. He had an initial blood pressure reading of 139/87 mmHg, heart rate of 91 beats per minute, temperature of 36.3°C, and respiratory rate of 18 breaths per minute. His oxygen saturation on room air was 98% in the operating room. The patient was taken to the operating room and standard anesthetic monitoring was performed. After intravenous administration of 150 mg of propofol and 60 mg of rocuronium, endotracheal intubation was performed using a video laryngoscope with an electromyography tube. Electromyography tubes were used for nerve integrity monitoring during the intraoperative period. Anesthesia maintenance was performed using sevoflurane inhalation anesthetics after endotracheal intubation.\nThe surgeon required nasogastric tube insertion to facilitate surgical resection. An anesthesiologist attempted to insert a 14-French nasogastric tube (Sewoon Medical, Cheonan, South Korea) using a video laryngoscope via the right nostril; however, this attempt failed because the tip of the nasogastric tube became kinked in the oral cavity. Next, a 6-French sterile angiography catheter (Medtronic, Minneapolis, MN, USA) was placed in a 14-French nasogastric tube. This nasogastric tube was then lubricated with 2% lidocaine jelly and gently inserted through the right nostril with the patient’s neck in mild flexion. However, this attempt failed as well. Finally, the nasogastric tube was gently inserted through the right nostril via anterior displacement of the cricoid cartilage, and the nasogastric tube passed the larynx and advanced up to 60 cm. The assistant then removed the angiography catheter. The patient’s vital signs and pulse oxygen saturation remained stable without significant changes while the nasogastric tube was inserted. Auscultation was performed with insufflation of air through the nasogastric tube from the upper abdomen, and the nasogastric tube was fixed at 60 cm. The operation progressed and the patient’s vital signs remained stable. After the operation, the electromyography tube was removed, airway maintenance was confirmed, and the patient was transferred to the intensive care unit. The estimated bleeding volume during surgery was approximately 50 mL. The patient was transferred to the general ward after nasogastric tube removal 1 day after surgery and was discharged without complications at 8 days after surgery.\nWritten informed consent was obtained from the patient for publication of this report. Institutional review board approval was not required because of the nature of this study (case report). |
A 23 year old male, first time donor, software engineer, weighing 56 kg with no abnormal medical history or physical examination findings came for voluntary blood donation at the blood donation drive near his office. He had adequate sleep, had taken meal 2 hour back and did not appear unduly anxious. A volume of 350 ml of whole blood was collected from him without any immediate adverse events. He was observed for 15 min postdonation. Following postdonation refreshment and proper postdonation instructions, the donor left the donation premises. Forty minutes later, he had an episode of the loss of consciousness (LOC) and fell on the road and injured himself. LOC lasted for nearly 2 min and was not associated with convulsion or incontinence. He was immediately attended to by blood collection team who were still present at the donation site.\nOn examination, the donor was conscious but confused. He was found to have a lacerated wound (3 cm × 1 cm) on the lower surface of the chin, fracture teeth, active bleeding from the mouth, tender swelling over the left tempero-mandibular joint area. His pulse rate was 82/min, regular with normal rhythm. The blood pressure was 110/66 mm Hg. Focal neurological deficits were ruled out. On auscultation, air entry into the lungs was bilaterally equal; the abdomen was soft and nontender.\nImmediate management was initiated by maintaining the airway and elevation of the foot end. The donor was reassured. Hemostasis was achieved by compression and wound dressing. The donor with a bystander was immediately shifted to our hospital for further management. The laceration was sutured (See ). Neurosurgery and oro-maxillo-facial surgery consultation were taken. Computed tomography of the head and brain showed fracture neck of the left mandible, fracture left lower incisor, and left lower molar tooth (See Figures -). Fracture mandible was managed conservatively. He was advised restricted jaw movement and liquid diet for 3 weeks. Suture removal was done after 7 days. The donor was regularly followed up by the blood center to ensure his health status. The donor recovered from the injury with full medical support from the Department of Transfusion Medicine. Reaction and outcome were reported to the Hemovigilance Programme of India. |
A 48-year-old woman presented to the emergency department with a sharp, severe left lower quadrant pain. Ultrasound imaging of the abdomen and pelvis demonstrated an enlarged uterus with multiple masses (highly suggestive of leiomyoma), an 8.7 cm left adnexal complex mass, and minimal fluid in the pelvis. Subsequent computed tomography (CT) scan of the abdomen and pelvis confirmed the above findings.\nPelvic examination revealed a posterior cervix with an enlarged, boggy uterus, but no tenderness. The cervix could not be visualized on speculum exam due to a distorted uterus. No palpable inguinal lymph nodes were identified. The remainder of the physical exam was unremarkable. Laboratory workup was notable for an elevated CA-125 level (125.9 U/mL).\nThe patient's past medical history was significant for breast cancer status after lumpectomy, radiation therapy, and Tamoxifen therapy. Her past gynecologic history was remarkable for laparoscopic myomectomy (12 years prior to this encounter). She resumed having regular cycles every 30 days and denied any recent abnormal bleeding, weight loss, and gastrointestinal or genitourinary symptoms.\nThe patient was advised that the best approach would be to remove the uterus and ovaries and send them for intraoperative consultation during the surgery. Subsequently, the patient underwent a total abdominal hysterectomy and bilateral salpingo-oophorectomy (TAH/BSO).\nExploration of the pelvis at the time of surgery revealed a large multilobated uterus that was about 16 weeks in size, as well as hemorrhagic cysts on both ovaries. The left ovary was no longer 8 to 9 cm, but was instead around 4 to 5 cm. Additionally, there was also some blood in the pelvis. Pelvic washings were obtained, and a representative section from the left ovary was submitted for frozen section examination. The diagnosis was reported as a benign hemorrhagic cyst. The surgery and the postoperative course proceeded without complication and the patient was discharged home on postoperative day 4. |
At 35 weeks of gestation, a 37-year-old (height 162 cm and weight 85.1 kg) primigravida visited the emergency department with complaints of unceasing palpitations, without associated symptoms such as dizziness, syncope or dyspnea. She had no history of any significant disease and her pregnancy had been uneventful. Upon questioning, she described a history of occasional palpitations over the past few years, which went away spontaneously in minutes.\nEKG showed the presence of a SVT at a rate over 160 beats/min with stable blood pressure (). Three boluses of IV adenosine (6 mg → 12 mg → 12 mg) were injected after unsuccessful carotid sinus massage. The SVT reverted to a normal sinus rhythm for only several minutes with adenosine, and SVT recurred. IV verapamil (5 mg) and two trials of synchronized electric cardioversion (150 J → 200 J) were also unsuccessful. Emergency Cesarean delivery was then performed because of uncertainty about the maternal health and concern for the fetus.\nA spinal anesthesia was performed using 10 mg of bupivacaine and 20 µg of fentanyl after 500 ml of 6% HES 130/0.4 infusion. Phenylephrine (0.2 µg/min/kg) was given to prevent spinal anesthesia related hypotension and 50 µg of phenylephrine was occasionally administered when systolic blood pressure was lower than 100 mmHg. The systolic blood pressure maintained between 90-120 mmHg. Total infused dose of phenylephrine before delivery of a baby was 350 µg with bolus and 60 µg with continuous infusion. A healthy baby was delivered uneventfully, and 100 µg of carbetocin was infused slowly without any complications. Her heart rate was around 150 beats/min throughout the operation, which suddenly dropped to 80-90 beats/min at the end of surgery. A normal sinus rhythm was maintained during the postoperative period (). A 24-hour Holter monitor and a cardiac echography were performed the next day, but no abnormalities were found. She was discharged after one week of postnatal care in the hospital without any episodes of palpitations. |
A 52-year-old male patient was admitted for weakness and numbness involving the bilateral lower limbs for 18 mo, and disorder of defecation and erectile dysfunction for 6 mo. For the last 3 mo, these symptoms started to worsen.\nThe patient started to present disorders of bilateral lower limbs in January 2016, and defecation and erectile dysfunction in January 2017. Subsequently, he received magnetic resonance imaging examination at a local hospital, which suggested an intramedullary mass located at the level of T9-T10. However, he did not take any cure. In April 2017, the clinical symptoms began to worsen. Therefore, the patient was admitted to our department on July 13, 2017 for further treatment.\nThe patient underwent an appendectomy in 1984, and had suffered from diabetes for 7 years and hypertension for 2 years. He had been taking nimodipine, metformin, and gliclazide to control the blood pressure and blood glucose levels under the supervision of local doctors.\nNeither he nor anyone in his family had a history of primary intramedullary melanocytoma.\nNeurologic examination presented that the myodynamia of the right lower limb was grade 3 and left lower limb was grade 4. Besides, the superficial and deep sense in the right lower limb was clearly worse than that of the left lower limb and these dysfunctions in distal lower limbs were more severe than those of proximal lower limbs as well. Moreover, achilles tendon reflex and patellar tendon reflex were brisk with absence of ankle and patellar clonus. Babinski sign was positive in the right lower limb. Anal reflex revealed a mild decrease and the Romberg sign was positive.\nTotal protein was slightly low (63.2 g/L). Triglyceride (1.75 mmol/L) and low density lipoprotein (3.47 mmol/L) were a little high. Color doppler ultrasound of the stomach and pelvis indicated a single gallbladder polyp (3 mm × 3 mm) and gallstone (5 mm × 4 mm), and benign prostate hyperplasia with multiple calcifications. The routine blood, urine, and stool tests were normal. Electrocardiogram, chest X-ray, cardiac color Doppler ultrasound, pulmonary ventilation function, and blood glucose were also normal.\nMagnetic resonance imaging (MRI) revealed an intramedullary tumor located at the T9-T10 level with oval borders and a size of 5.5 cm × 1.2 cm × 1.2 cm. The mass was slightly hyperintense on T1-weighted images (T1WI) (Figure ) and hypointense on T2-weighted images (T2WI) (Figure ). Contrast-enhanced MRI of the tumor showed mildly inhomogeneous enhancement after gadolinium administration (Figure and ). The secondary lesions like syringomyelia induced by the intramedullary tumor were hypointense on T1WI (Figure ) and hyperintense on T2WI (Figure ) with mild enhancement after gadolinium management at the T5-T8 level (Figure ). |
A 55-year-old retired male teacher with a history of hypertension presented to our dermatology clinic in 2017, complaining of one dark brown lesion on the face. The lesion had gradually increased in size in the past 3 years, was accompanied by a burning sensation in the area, and bled sometimes. There was no history of frequent sun exposure, phototherapy, radiation, or photosensitizer drug use and no sunburns or use of tanning beds. He was only on losartan for hypertension. On examination, the Fitzpatrick scale score was three; the patient had a dark brown plaque with a 1 × 3 × 0.3 cm depressed center and rolled border on the right lower eyelid (Fig. ). He also had thick yellow hyperkeratotic plaques on the palms and soles, no teeth, and no psoriasiform lesions (Fig. ). On further history-taking, the patient mentioned that he had the lesions on the palms and soles since he was 4 years old, but he was not sure, and they could have developed earlier. Further, he mentioned that he lost all his permanent teeth when he was 14. We suspected skin cancer and conducted a biopsy of the lesion. Regarding the other symptoms and presentations, we first suspected PLS; hence, we sent the patient's blood sample for genetic testing. The patient had not visited any dermatology clinic previously.\nBiopsy results showed that the patient had pigmented basal cell carcinoma of the nodular type. Microscopically, sections showed an epithelial tumor arising from the basal cell layer of the epidermis, exhibiting a nodular growth pattern. The tumor comprised basaloid cells with scant cytoplasm and elongated hyperchromatic nuclei (Fig. ). Peripheral palisading and peritumoral clefting were present in addition to melanin production by tumor cells (Fig. ). Mitotic figures and apoptotic bodies were clearly visible. Tumor cells showed intense cytoplasmic staining upon CK5/6 immunohistochemical staining (Fig. ). They were also positive for Ber EP-4 (Fig. ) and BCL2 (Fig. ). The tumor was excised, and full-thickness skin grafting was performed by plastic surgery, with regular follow-up every 6 months.\nTargeted sequencing was performed on both DNA strands for the relevant CTSC region. The patient was homozygous for G-to-C substitution at nucleotide position 815 (CTSC, c.815G>Cp.(Arg272Pro). This variant causes an amino acid change from arginine to proline at position 272. This variant has previously been described as a cause of PLS by Toomes et al., 1999 and Kurban et al., 2009 [, ] and is classified as pathogenic. The parents and grandparents were found to be consanguineous. None of the other family members had palmoplantar keratoderma or periodontitis. |
A 60-year-old Japanese male presented with severe headache and was transferred to our hospital 12 hours after the onset of symptoms. Diffuse, thick SAH was observed on his computed tomography (CT) scan and a hematoma in the right frontal lobe suggested a ruptured aneurysm at the distal anterior cerebral artery (ACA) or anterior communicating (A-com) artery (Figure a). The degree of SAH of the patient was classified as Fisher CT Group 3, and the highest CT number (Hounsfield number) exceeded 60 in the SAH, which suggested a significant risk for symptomatic vasospasm (Figure a). Subsequent digital subtraction angiography (DSA) showed the same information on the aneurysms and showed no aneurysm at the distal ACA (Figure b). An immediate operation was considered the best course of action and a left front-temporal craniotomy was chosen in order to reach both aneurysms. After the introduction of general anesthesia, we inserted a spinal drainage tube which was kept closed until the craniotomy was completed. There was a left internal carotid artery (IC)-posterior communicating (PC) aneurysm which was obviously not the rupture origin, but it was obliterated as well. After clipping the aneurysm, we followed the left A1 and found the A-com aneurysm. This appeared to be the rupture origin and a complete neck clipping was performed without event.\nAfter clipping the aneurysm, a cisternal drainage tube was placed in the chiasmatic cistern. Two days after the operation (day 2), 500ml of Lactated Ringer's solution with urokinase (120IU/mL), and ascorbic acid (4mg/mL) was infused at a rate of 30mL/hour from the cisternal drainage tube and drained out from the lumber drainage set at the level of the external auditory canal. We carefully checked his level of consciousness and also performed the same procedure the next day (day 3). However, his consciousness deteriorated and his left pupil became dilated on the next day (day 4), despite the fact that his magnetic resonance imaging (MRI) scan showed no severe vasospasm (Figure c). His MRI showed a subdural hematoma (Figure d) which was not present previously. His intracranial pressure level was below the level of the external auditory canal (EAC). The deterioration of his level of consciousness might have been caused by brain sagging due to intracranial hypotension. His T1 sagittal MRI showed evidence of marked brain sagging with mild tonsillar descent (Figure e). The quantification of brain sag has been described by measurement of distance between a straight line drawn from the tuberculum sellae to the confluence of the straight sinus and the mammillary body in a sagittal view of MRI. The mammillary body normally lies on this line []. Both of his pupils became dilated on day 6. Even though his MRA (magnetic resonance angiography) showed no angiographic vasospasm, his level of consciousness did not improve. We continued intensive hydration and head-down positioning and the brain sagging improved in his follow-up MRI scans (day 15 and 21) (Figure f, g). Those MRI images showed a gradual enlargement of the ventricles and worsening of the periventricular lesion (PVL). A lumber puncture was performed on day 23 and the initial pressure was 40cmH2O. A ventriculoperitoneal (VP) shunting was performed, after which he dramatically improved. |
A 19-year-old woman presented with acute paroxysmal left chest pain radiating to the epigastrium of 4 days duration. She had a 10-year history of exertional dyspnea that was aggravated in the supine position, but no history of chest or abdominal trauma. She was misdiagnosed with a pulmonary abscess at another hospital, and the oral antibiotic treatment was ineffectual. Clinical examination on admission to our hospital revealed bowel sounds and decreased air entry in the left chest and that the abdomen appeared to be scaphoid. No obstructive gastrointestinal symptoms were observed. An X-ray revealed herniated loops of both the small and large intestines in the left hemithorax, which produced multiple lucent shadows and severely reduced lung space (Fig. , arrow). Computed tomography (CT) images showed that the bowel loops and fat passed through a defect in the posterolateral left hemidiaphragm (Fig. , arrow).\nA left posterolateral thoracotomy was performed through the sixth intercostal space. The diaphragmatic defect was found along with herniation of the jejunum, ileum, ileocecal junction, appendix, and ascending and transverse colon. Pulmonary hypoplasia was also seen in the left lower lung lobe. We separated the adhesions around the foramen and within the pleural cavity. A laparotomy was subsequently performed through a median incision. During the operation, anomalies were found in intestinal rotation and fixation, and the total length of the jejunoileum was measured as 750 cm. The herniated viscera were returned to the abdominal cavity.\nWe performed a sublay patch repair of the left posterolateral diaphragmatic hernia using a Dacron patch (Balance Medical Technology Co., Ltd., Beijing, China). The procedure lasted for about 3 h. The patient had an uneventful postoperative period. An X-ray of the upper gastrointestinal tract with soluble iodine contrast at the 1-month follow-up showed that the repair was satisfactory (Fig. ). A chest X-ray revealed that the left upper lung lobe was expanded completely (Fig. ). After the surgery, the patient’s chest pain and dyspnea were relieved. |
An 18-year-old male presented to the Eye Emergency Department at a tertiary eye centre complaining of a 2-day history of blurred vision in the left eye accompanied by mild redness and aching. There was no watering, discharge, photophobia, floaters or flashes, and he was asymptomatic with respect to his right eye. The patient denied any foreign body or other recent ocular injury, nor any similar preceding episodes. Review of systems was unrevealing, in particular he denied rashes, cold sores, malaise or recent intercurrent illness. His past ocular history and past medical history were similarly unremarkable.\nThe best-corrected visual acuity was measured at 6/5 in both eyes despite subjectively blurred vision on the left. A slit-lamp biomicroscopy showed the right eye was normal. The left eye had ciliary injection with signs of anterior chamber inflammation. 1 + cells with minimal flare was observed, as were numerous fine keratic precipitates (KPs) on the inferior corneal endothelium of the left eye. Both anterior chambers were deep and no notable abnormalities of iris or vitreous were observed in either eye. The IOPs were recorded as 18 mmHg in the right eye and 35 mmHg in the left (normal range < 21 mmHg) by Goldman applanation tonometry.\nOn funduscopy, spontaneous retinal arterial pulsation could be seen at the disc in the left eye, as per the . There was no corresponding pulsatile activity in the right eye, and no spontaneous venous pulsation (SVP) could be seen in either eye.\nThe clinical impression was of acute anterior uveitis with relatively modest anterior chamber inflammation, complicated by raised IOP. There were no signs clearly indicating any underlying aetiology to the uveitis, and it was therefore presumed to be viral in nature, viral uveitis being a frequent cause of uni-ocular hyptertensive uveitis. The patient responded well to topical pressure lowering agents, with an IOP measuring 18 mmHg 1 hour after administration. Typically, these cases are highly responsive to topical steroids, and therefore, prednisolone acetate 1% drops were given four times daily. Antiviral agents were not given in the absence of granulomatous or severe inflammation or corneal involvement. The patient was discharged with regular Dorzolamide + Timolol drops to the left eye to control the IOP, a tapering course of topical steroid and a short course of topical cycloplegic therapy for comfort. Review was scheduled in clinic over the following weeks.\nThe patient did not attend initially scheduled follow-up; however, he was seen some months later in clinic. At this point, he reported rapid resolution of his symptoms with complete return to subjective normality of his eyes. Clinical examination confirmed entirely normal findings with full visual function. He was subsequently discharged and has not re-presented to our eye service. |
An 11-year-old boy was referred to the haematology department because of chronic diarrhoea. He was born full-term to healthy first-degree consanguineous parents with a birth weight of 1250 g (below the third percentile). According to his medical history, he had been hospitalised due to intrauterine growth retardation during the first three weeks of his life. As an infant he suffered from delayed separation of the umbilical cord. He developed multiple recurrent infections such as pneumonia, diarrhoea, fever, and recurring skin abscesses. On physical examination, his height and weight were both found to be below the third percentile. He had dysmorphic features such as a coarse facial appearance, flattened nose, and long prominent philtrum. He had numerous scars from abscesses in the bilateral inguinal region. A neurological examination revealed that he had severe growth and psychomotor retardation (). He had 2 cm of hepatomegaly and 4 cm of splenomegaly. A laboratory evaluation at the age of 11 years revealed that he had an elevated white blood cell count (72.1 × 109/l) with neutrophilia (80% neutrophils, 20% lymphocytes). His haemoglobin level was 9 g/dl, mean corpuscular volume was 76 fl, and platelet level was 456 × 109/l. The other blood parameters were normal.\nHe had no history of blood transfusions. On the 10th day of follow-up, an erythrocyte transfusion was required because his haemoglobin level had decreased. His blood group was typed as O Rh D positive using the gel centrifugation method for ABO and Rh typing (). A transfusion of one unit of packed red blood cells was planned, but severe haemolytic reactions developed during a cross-match related to all of the erythrocyte suspensions.\nThe presence of Lea, Leb, and H antigens in the erythrocytes of the patient was investigated using haemagglutination tests performed with commercial monoclonal antiserums (ALBAclone, Alba Bioscience, United Kingdom) derived from mice. At the same hospital, his blood grouping was again reported as O Rh D positive by ABO and Rh typing on the gel card. The forward and reverse grouping on the tube revealed the blood group to be O Rh D positive. It was found to be incompatible with a strength of 4+ agglutination in all cross-matches using reverse analysis conducted with erythrocytes from A1, A2, B, and O blood groups. Reaction with anti-H lectin was negative. The blood group was finally interpreted as the Bombay blood group with naturally occurring anti-H antibodies in the plasma ().\nThe molecular basis of LAD II was demonstrated to be the deficient expression of the CD15 adhesion molecules on the surface of the leukocytes. The expression of LFA-1 (CD11a/CD18), Mac-1 (CD11b/CD18), and p150/95 (CD11c/CD18) was not absent (). CD18 expression could not be determined due to the lack of a CD18 kit.\nBecause the patient’s haemoglobin level was not low enough for erythrocyte transfusion, we started iron therapy. The patient’s haemoglobin level then elevated, so he did not require the transfusion.\nWe considered this to be a case of an individual having both LAD II and the Bombay blood type, based upon the present findings. However, our patient did not return to our hospital for follow-up after this diagnosis of LAD II and the Bombay blood type. Instead, he returned to his home province (Kahramanmaraş). Thus, we could not perform molecular genetic analysis on our patient. |
A 57-year-old Caucasian woman was referred to our rheumatology outpatient center from the orthopedics service for assessment of a possible inflammatory etiology for her rapidly destructive arthritis. summarizes the major clinical, lab, and imaging findings. She initially presented with 6 months of progressive right hip and groin pain with no preceding trauma or chronic steroid use. There was a leg length discrepancy with the right leg 3 cm shorter and severe limitation of the right hip and some decreased range of motion on internal and external rotation of her left hip. She did not have any neurovascular compromise. Over 5 months, she became severely disabled and was unable to ambulate. With respect to her other joints, she had chronic pain in her metatarsal phalangeal joints (MTPs) and toes for approximately 3 years with progressive deformities, with recent episodes of swelling. Subsequent to her right hip pain, she also developed right knee pain with multiple episodes of warmth and swelling. Morning stiffness in affected joints was approximately 2 hours. Her initial swollen joint count (SJC) was 8 out of 66 joints examined, involving her right knee and multiple metatarsal phalangeal joints (MTPs). Over the next few visits, her swollen joint count of her small joints reached 11. There was also an unintentional 50-pound (lb) weight loss since the onset of her illness, partially due to decreased appetite secondary to pain.\nInitial diagnostic work-up was significant for elevated inflammatory markers, weakly positive antinuclear antibody (ANA) and otherwise negative autoimmune markers including both rheumatoid factor (RF) and anticitrullinated peptide (anti-CCP) (). All cultures, including three sets of anaerobic and aerobic cultures and one set of systemic fungal and mycobacterial culture, were negative. Metabolic panel showed normal renal, thyroid, and liver function. Angiotensin-converting enzyme (ACE) serum level was within normal limits. Malignancy work-up was negative: serum and urine electrophoresis, CEA, CA-125, total body position-emission tomography (PET) scan, and bone scan were all within normal range. Two incidental pulmonary nodules were found on computed tomography (CT) thorax with focal ground glass appearance, but negative for malignancy on bronchoscopy and on repeat imaging. CT abdomen and pelvis was negative for any abdominal masses and showed a soft tissue calcified mass in the right sacroiliac (SI) fossa and right gluteal muscles.\nInitial plain films of her right hip and pelvis showed femoral head lucencies compatible with subchondral cysts (but no definite fracture) and moderate diffuse articular joint space loss with flattening of the femoral head (). Over a 5-month span, there was complete destruction of the right femoral head, erosion of the right acetabulum, and lateral subluxation of the proximal femur (). CT pelvis with contrast () showed fragmented bone within the acetabular fossa, which was remnants of the femoral head resorption process. Magnetic resonance imaging (MRI) of the right hip showed extensive synovial hypertrophy consistent with inflammatory arthritis (). There were also minimal bone marrow edema and a fluid collection in the iliopsoas bursa extending posteriorly to the sciatic notch and enlargement of the hip joint capsule (). X-rays of her feet revealed erosive changes in the MTPs and X-rays of her hands showed periarticular osteopenia in her metacarpal phalangeal (MCP) joints and ulnar deviation. There were degenerative changes on imaging of her knees, shoulders, and spine.\nThree right hip aspirations were attempted with sufficient sample in only one attempt, which showed bloody fluid, 0.6 nucleated cells (17% neutrophils), and presence of only extracellular but not intracellular calcium pyrophosphate dehydrate (CPPD) crystals. Synovial biopsy did not reveal any crystals. Historically, CPPD crystal deposition disease can cause such acutely destructive disease on imaging and pathology [], but the most common sites of CPPD joint involvement are the knees, wrists, and symphysis pubis with hip involvement being rarer with a prevalence of 5% []. This patient's plain-film images of her hands, knees, and pelvis were helpful in that there were no typical features of crystal arthropathy such as cartilage or joint capsule calcification and her blood work was also negative for an underlying metabolic precipitant of CPPD. Furthermore, single joint aspiration of her right knee showed no crystals, with bloody fluid and 35 nucleated cells (96% neutrophils).\nThe major differential diagnosis of this atypical case of destructive arthritis is outlined in . The patient's initial plain films showed evidence of degenerative changes but very unlikely to be primary osteoarthritis given the atypical symmetric joint space narrowing on plain imaging, complex joint effusion, and synovial thickening with chronic inflammatory changes on biopsy. She also did not have any evidence of a subchondral insufficiency fracture, which has been linked to the pathogenesis of the rapid destruction of osteoarthritic joints []. Other potential etiologies that could rarely cause such severe arthritis were considered on the differential including systemic diseases such as multicentric histiocytosis and sarcoidosis, but the patient lacked any other features of these diseases. Her neurovascular status was intact throughout and no evidence of a neurological problem or predisposing factors such as diabetes to cause Charcot's or neuropathic arthropathy. An avascular type necrosis (AVN) with subsequent inflammation was possible, but unusual without a history of steroidal use prior to her initial presentation or other risk factors for AVN. The imaging was also not classic for AVN and the patient did not have monoarthritis. Although seronegative, she did not have any inflammatory back pain, dactylitis, enthesitis, DIP involvement, inflammatory bowel disease, psoriasis, or other features of seronegative spondyloarthropathy. X-rays of her spine and CT pelvis did not show evidence of sacroiliitis.\nIn order to definitively differentiate between chronic sepsis, malignancy, and a chronic inflammatory process, an open biopsy of the hip was performed by the orthopaedic service, which showed overall morphology with features of chronic inflammation, fibrosis, multinucleated giant cell reaction with dystrophic calcification, and reactive synovial proliferation (). Cultures of synovial tissue were negative for fungus and mycobacteria, ruling out tuberculosis. Although the biopsy results were not specific for an exact etiology of rapid joint destruction, we were able to exclude neoplastic, infectious, osteoarthritis, and osteonecrotic etiologies.\nAn inflammatory etiology was most likely given multiple swollen joints, elevated inflammatory markers, constitutional symptoms, evidence of inflammatory features on imaging, and other causes excluded. Hence, a diagnosis of seronegative rheumatoid arthritis (RA) was ultimately made, fulfilling 4/7 of the 1987 RA American College of Rheumatology (ACR) classification criteria [] and scoring 6 points for the 2010 ACR//European League Against Rheumatism (EULAR) classification criteria [] (). Given the extent of right hip destruction, the patient received a total hip arthroplasty with good results. To prevent destruction of her other joints, triple disease modifying antirheumatic drugs (DMARD) therapy with hydroxychloroquine 400 mg daily, leflunomide 20 mg daily, and methotrexate 25 subcutaneously weekly was initiated. For symptom relief, she was given an 80 mg intramuscular Depo-Medrol injection and joint injection to her right knee. At her 2-month follow-up visit, she had significantly reduced swelling of her knees and MTP's with much symptomatic relief. Adalimumab was added because of incomplete response and patient had further improvement. Over a 6-month period, SJC decreased from 8 to 1/66. |
A 5-month-old boy weighing 3500 g presented with history of fast breathing, diaphoresis during feeding and recurrent respiratory tract infections since birth. He was born at 32 weeks of gestation with a birth weight of 2070 g.\nPhysical examination revealed heart rate of 140 beats per minute, respiratory rate of 60 per minute with subcostal retractions and blood pressure of 80/40 mmHg in the right arm. Oxygen saturation in room air was 95% in the right upper limb and 93% in the lower limb. The peripheral pulses were bounding with no radio-femoral delay. The precordium was hyperdynamic and the apex beat was located in the left fifth intercostal space at the mid-clavicular line. On auscultation, first heart sound was normal and second heart sound was narrowly split with loud pulmonary component. No murmurs were audible.\nChest radiography demonstrated cardiomegaly (cardiothoracic ratio 65%) with right atrium and right ventricle enlargement. Lung fields were plethoric. Electrocardiogram demonstrated biventricular hypertrophy with QRS axis of 90°. Echocardiography revealed a large PDA with predominant right to left shunt and severe pulmonary arterial hypertension. On suprasternal view, the aortic arch was left sided with transverse arch measuring 7 mm. Only two arch vessels were seen, with the first vessel probably trifurcating. Isthmus just after the second vessel measured 4 mm; hence, coarctation was suspected [].\nThe coarctation segment did not look narrow enough to explain predominant right to left shunting of PDA. To delineate the severity of coarctation and the arch anatomy, cardiac computed tomographic angiography (CT angiography) was planned. CT angiography showed a large left-sided PDA with left aortic arch. The arch had two lumina and the left carotid and subclavian arteries were originating from the upper lumen []. The diagnosis of double-lumen aortic arch was made. There was no coarctation of aorta.\nAlthough the PDA seemed to be shunting right to left, the lower limb saturations were 93%. In view of his symptoms and chest X-ray suggestive of increased pulmonary blood flow, he was planned for surgical ligation of PDA. Intraoperatively, CT angiographic findings were confirmed. He underwent successful PDA ligation and was discharged on the seventh postoperative day. On follow-up 3 months later he is doing well with no evidence of pulmonary arterial hypertension. |
A 79-year-old male was referred to our hospital with chest pain on exertion. Echocardiography demonstrated severe calcification of the aortic valve and severe aortic stenosis (aortic valve area, 0.7 cm2; maximum velocity, 4.8 m/s; mean pressure gradient, 50.4 mmHg). Coronary angiography showed no significant stenosis in the coronary arteries. Computed tomography revealed severe diffuse calcification from the ascending to the abdominal aorta. In particular, the aortic arch was shown to be circumferentially calcified and its side branches also had severe calcification (Fig. ). Magnetic resonance imaging revealed more than 70 % stenosis in the brachiocephalic, right internal carotid, and left subclavian arteries (Fig. ).\nBecause the aortic and iliac arteries were severely calcified, we chose not to perform transcatheter aortic valve replacement. Instead, conventional surgical aortic valve replacement was planned with bilateral axillary artery cannulation and short-term moderate hypothermic circulatory arrest for cross-clamping of the severely calcified ascending aorta. The operation was performed in the elective setting. Before sternotomy, 8-mm prosthetic grafts were anastomosed to the bilateral axillary artery for arterial cannulation. After sternotomy, a cardiopulmonary bypass was initiated with a venous return from the right atrium and a left ventricular venting from the right upper pulmonary vein. After the patient’s body temperature was decreased to 30 °C, systemic perfusion was temporarily arrested with the patient in the Trendelenburg position. The proximal ascending aorta with a less calcified site was opened in an oblique fashion. The inside aortic wall was inspected and a suitable site for cross-clamping was identified under direct vision []. The aorta was clamped with blood flushed from the arterial cannulas with a flow of 500 ml/min. The aortic valve was shown to be severely calcified, and was resected using a Cavitron Ultrasonic Surgical Aspirator (CUSA). A 21-mm bioprosthetic valve was replaced. An intimal calcified plaque near the clamped site was resected using a CUSA, then the aorta was closed with 4–0 polypropylene. The total cardiopulmonary bypass time was 63 min. The postoperative course was uneventful, and no neurological deficit occurred. |
A 58-year-old male with no particular background who, after falling from a 5m height, reported pain and restriction of movement on both shoulders and loss of sensibility and movement in his right arm.\nThe patient showed functional impotence, not being able to perform adduction and internal rotation with both upper limbs, evident ecchymosis in both of his shoulders and absence of humeral, radial, and cubital pulse in his right arm, with signs of acute ischemia (coldness, paleness, diminished sensibility, and motor function of the elbow and the hand), with no capillary filling in the right hand. Oxygen saturation, measured with a pulse oximeter, couldnot be measured in the right index finger in comparison with 99% in the left one ().\nRadiographies and computed tomography showed a fracture-dislocation of the proximal front humerus in both of the shoulders (). A Doppler could not find distal pulse in the right upper limb, so the patient was immediately remitted to surgery.\nIn the surgical room and under general anesthesia, an emergency arteriography was carried out through transfemoral access, and a tear in the intima of the right axillary artery was found, being that the reason why an emergency intervention was indicated.\nThen, through deltopectoral path, we proceeded to perform an open reduction and internal fixation using a pre-molded plaque of the proximal humerus (). After that, an auto-expandable stent was implanted and a bypass graft with interposition of the great saphenous was performed by the service of angiology and vascular surgery (). Finally, a distal embolectomy with a Fogarty catheter was performed to eliminate any thrombus. The control arteriography proved vascular permeability.\nFour days after the emergency surgery, the left shoulder was operated again through deltopectoral path, performing an open reduction and internal fixation with a pre-molded plaque of the proximal humerus.\nThe patient was discharged several days after the humeral, radial, and cubital pulses were recovered in the right upper limb. Antiplatelet therapy with clopidogrel was indicated.\nIn the follow-up, the patient shows an acceptable range of mobility with 50° of flexion and 40° of abduction in the right shoulder and 60° of flexion and 30° of abduction in the left shoulder. The patient has recovered sensibility, strength, and mobility in the hand and the vascularization of the upper right limb is correct in the Doppler. Radiology shows signs of consolidation in the fractures with no images of avascular necrosis (). |
A 64-year-old woman presented to a local doctor in 2000 with blurred vision in her right eye. She was diagnosed with chronic iridocyclitis and treated with topical corticosteroids with limited improvements. More detailed examinations were not performed at that time. In 2003, she consulted a neurologist for depression, and thereafter was diagnosed with CNS lymphoma by brain MRI. On presentation, best-corrected visual acuity (BCVA) was 20/20 in the right eye and 20/20 in the left eye, and intraocular pressure was normal. A slit-lamp examination showed KPs and inflammatory cells (2+) in the anterior chamber of the right eye. A fundus examination of the right eye revealed vitreous opacities (3+). Slit-lamp and fundus examinations of the left eye showed no abnormalities. Since the identification of lymphoma cells in the vitreous is required for a diagnosis of PVRL, we performed diagnostic vitrectomy. A vitreous biopsy sample indicated increased IL-10 levels (379 ng/mL) and an elevated IL-10 to IL-6 (12.6 pg/mL) ratio. A cytological analysis also showed large atypical lymphoid cells, resulting in DLBCL. She was diagnosed with PVRL with CNS involvement and started treatment. She underwent one course of intravenous HD MTX chemotherapy (3.5 g/m2) and radiotherapy to the right eye of 40Gy. Brain recurrence has not been observed since then.\nBilateral involvement was detected during the observation period. KPs and anterior chamber cells are also observed in the left eye. She had been repeatedly treated with a dose of 400 μg of intravitreal MTX and a dose of 1 mg of intravitreal rituximab for recurrent intraocular lesions between 2004 and 2011: intravitreal MTX; 7 times for the right eye/3 times for the left eye: intravitreal rituximab; 7 times for the right eye. The MTX injections were administered using a 30-gauge needle after application of a topical anesthesia and 5 % povidone iodine disinfection in the superior temporal quadrant 3.5 mm posterior to the limbus. Intravitreal rituximab was also administered to the recurrence from 2008 to 2009 and was temporally effective; however, the iridocyclitis as the side effects of injection was developed each time. Therefore, intravitreal rituximab was discontinued. In 2012, she presented at our hospital with blurred vision in her right eye. BCVA in her right eye was 20/250. A slit-lamp examination of the right eye showed a 2-mm high viscous pseudohypopyon, anterior chamber cells (3+), and flare (2+) (Fig. ). KPs were not observed. A fundus examination of the right eye showed (3+) strong vitreous opacities (Fig. ); however, subretinal invasion was not observed. There was no abnormal finding in her left eye at the time of right eye recurrence. Anterior chamber biopsy revealed the presence of atypical lymphocytes, indicating the recurrence of DLBCL (Fig. ). Intravitreal MTX was initiated. One week later, pseudohypopyon completely disappeared, while anterior chamber cells (1+) remained (Fig. ). Vitreous opacities also disappeared. Symptoms resolved completely within a few months by the sequential treatments.\nThe recurrence of PVRL with pseudohypopyon appeared 14, 15, and 18 months after the first appearance of pseudohypopyon (Fig. ). An intravitreal MTX was indicated for the management of each recurrence, resulting in the resolution of symptoms. Moreover, the recurrence of PVRL with KPs (Fig. ) and subretinal invasion (Fig. ) were also noted (5 times for KPs/1 time for subretinal invasion). Intravitreal MTX was also an effective treatment for recurrence (Fig. ). Recurrence with pseudohypopyon was not simultaneously observed with KPs, vitreous opacities, or subretinal invasion. In May 2015, there had been no recurrence for 6 months. Visual acuity remained at 20/50 in her right eye and 20/20 in her left eye. The subsequent clinical course of left eye was uneventful. No CNS involvement was noted during the observation period. |
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