A rare case of Swyer syndrome from Pakistan in a young girl with primary amenorrhea and 46XY genotype.

Swyer syndrome is a condition where individuals with a 46XY karyotype, typically associated with males, display complete gonadal dysgenesis and lack testicular differentiation. This results from a mutation in the SRY gene, which is essential for testis development. As a consequence, affected individuals who appear phenotypically female have male chromosomes but do not develop functional testes. As a result, there is an absence of testosterone that leads to lack of masculinization and the presence of female genitalia. This article describes a 20-year-old female from Pakistan who exhibited primary amenorrhea. On examination, she possessed a typical female physique but lacked breast growth and axillary hair. She had scant pubic hair with female-type external genitalia. The pelvic imaging showed a underdeveloped uterus, along with small ovaries and fallopian tubes. Her karyotype came out to be 46XY. The examination and radiological results indicated Swyer syndrome. During laparoscopy, the patient's uterus was found to be infantile, while the fallopian tubes were healthy. Streak gonads were also present, and due to the risk of gonadoblastoma, they were surgically removed. Hormone replacement therapy was started to induce pubertal development and optimize bone mineral accumulation.

A Rare Incidence of Hepatocellular Carcinoma With Tumor Thrombus Extending to the Right Heart.

Hepatocellular carcinoma (HCC) is a leading cause of cancer-related deaths and the sixth most commonly diagnosed cancer worldwide due to several common risk factors, including hepatitis C virus (HCV), hepatitis B virus (HBV), and other causes of cirrhosis. In HCC, intrahepatic vascular invasion and a tumor thrombus are commonly observed. However, the extrahepatic spread of the tumor thrombus to the heart via the portal vein, hepatic vein, and inferior vena cava (IVC) is rarely reported and is considered a poor prognostic factor. In addition, rarely, there is a risk of cor pulmonale and thromboembolism of the pulmonary vessels. Our patient also presented with this rare complication of HCC. Our patient's clinical presentation was bilateral pedal edema, moderate ascites, and abdominal discomfort with raised jugular venous pressure. These signs and symptoms are related to an impairment of the right heart caused by intracardiac tumor thrombus metastasis, leading to diastolic dysfunction. Based on these findings, echocardiography and abdominal computed tomography (CT) scan were performed with the definitive diagnosis of hepatocellular carcinoma with tumor thrombus metastases in the hepatic vein, inferior vena cava, and right atrium. The management team agreed on a conservative treatment plan based on the advanced stage of the disease and the high risk associated with aggressive treatment modalities. Unfortunately, on day 7 of admission, the patient died from a possible pulmonary embolism that led to cardiopulmonary arrest. This case underscores the importance of screening patients with a high HCC tumor burden with abdominal ultrasound and echocardiography for early detection and timely management.

Dengue beyond fever-fatal dengue myocarditis and complete heart block: A case report and brief overview of cardiac manifestations of dengue fever.

Dengue is an endemic viral fever transmitted by mosquitoes that may be asymptomatic or cause a nonspecific flu-like illness. The disease's most severe manifestations are dengue hemorrhagic fever and dengue shock syndrome. Various atypical manifestations have been observed that constitute the expanded dengue syndrome. Although uncommon, it is now known to cause cardiac complications that can be life-threatening and difficult to diagnose. We illustrate a case of a 16-year-old boy infected with dengue who experienced syncope, dizziness, and lethargy. His electrocardiogram showed third degree atrioventricular block which did not resolve with atropine and fluid resuscitation. After excluding all possible causes of complete heart block, transvenous pacing was done. A detailed workup was carried out that favored a diagnosis of subclinical myocarditis leading to complete heart block. The patient did not regain a normal rhythm and was considered for permanent pacemaker implantation. Myocarditis, pericarditis, rhythm disturbances, first- and second-degree atrioventricular blocks, and rarely third-degree heart blocks have been seen in dengue patients. However, a case of dengue illness associated complete heart blocks that is irreversible and necessitates a permanent pacemaker has never been described in the literature, and this is the first such case being reported. This article intends to increase clinicians' awareness, particularly those in dengue-endemic regions, about better recognition and comprehension of cardiac problems associated with dengue fever.

Encephalitis as a Clinical Manifestation of COVID-19: A Case Series.

COVID-19 is a novel virus which causes a variety of clinical manifestations in the body, some of which are yet to be discovered. The main aim of our study is to highlight the neurological manifestations of COVID-19 as it is still new to the medical world, and to emphasize the fact that the physicians have to be wary of the possibility that patients affected by COVID-19 can present with encephalitis. Only a few studies are available so far regarding the neurological manifestations of this novel virus which highlights the need for this study. We present a case series of 4 patients who were found to have COVID-19 encephalitis. There is still no disease-defining test for diagnosis so the mainstay of diagnosis is exclusion of all the common causes of encephalitis. Brain magnetic resonance imaging and cerebrospinal fluid analysis performs an ancillary in the diagnostic tools. Our study also supports the use of IV tocilizumab (4-8 mg/kg) and IV methylprednisolone (0.5-2 mg/kg) as possible treatment options with good results, as the patients described in our case series responded well to these medications.

Management of scleroderma renal crisis with left ventricular diastolic dysfunction in a resource-limited setting: A rare case report.

Scleroderma renal crisis with left ventricular diastolic dysfunction can lead to significant mortality. We presented the case of a 32-year-old female with anuria for 2 days. On further inquiry, she had joint pain, difficulty turning her head sidewise, and associated difficulty in finger movement. Also, hyperpigmentation with superimposed hypopigmentation was reported, which reduced during her pregnancy and worsened post-partum. Her family history suggested similar complaints in her mother. In addition, she had a blurring of vision. She had hypertension, microangiopathic hemolytic anemia, deranged renal function, and retinopathy on ophthalmologic examination. Radiological investigations revealed pulmonary edema, pleural effusion, and left ventricular diastolic dysfunction. Hence, a diagnosis of scleroderma renal crisis complicated by left ventricular diastolic dysfunction was made. She was managed conservatively using anti-hypertensive medications and hemodialysis, which resulted in gradual improvement. Our case highlighted the management approach to this rare presentation with anti-hypertensives and hemodialysis in a resource-limited setting.

Diagnosis and treatment of flurbiprofen-induced Stevens-Johnson syndrome: A rare case report.

Our case highlights the occurrence of severe cutaneous adverse reactions with flurbiprofen use and alerts physicians to its odds with safer drugs.

Factors affecting the consumption of iodized salt by pregnant women in Karachi.

Background and Objective: Globally iodine deficiency disorder (IDD) is a major preventable cause of cognitive impairment in new born. In developing countries, every year 38 million newborn develop cognitive impairment as a result of iodine deficiency. Iodine consumption by pregnant women is affected by many factors. Hence, we conducted this study to identify factors associated with IDD. To know the effects of different factors on use of iodized salt by pregnant women visiting antenatal outpatient department (OPD) at a public sector tertiary care hospital of Karachi. Methods: Pregnant women (n=360) visiting antenatal OPD at public sector tertiary care hospital of Karachi were interviewed using a structured questionnaire. Systematic random sampling method was employed. Data was collected from March 2017 to January 2018. Chi-square test was applied to identify factors associated with IDD. Results: Thirty one (31% ) of pregnant women were consuming iodized salt in their homes. The percentage of participants who heard about iodized salt for the first time was 24%. Twelve percent (12%) reported that price of iodized salt is more than that of normal salt. Ninety eight (98%) of pregnant women replied that they were not informed about the importance of iodine or iodine requirement during pregnancy by their doctor or health care provider. A statistically significant association was observed between educational status (p=0.001) and household income (p<0.001) with the use of iodized salt. Conclusion: Low education, low income of study participants are identified as factors related to limited consumption and incorrect practices related to the use of iodized salt. In order to address iodine deficiency, there is a need to not only sensitize the expectant mothers about the adverse outcome of maternal iodine deficiency for their unborn child but also to introduce an awareness program at the antenatal clinics by the Health Professional for the antenatal care seeking women. There is also an immense need of support from Government side as well to make strategies and policy changes at the national level to ensure the availability, accessibility and affordability of iodized salt.

A Novel Method of Quantifying the Choriocapillaris in Normal and Post-inflammatory Eyes.

OBJECTIVE: To assess the reliability and validity of gray level co-occurrence matrices (GLCM) in the quantification of choriocapillaris and describe GLCM features in normal and eyes with resolved acute posterior multifocal placoid pigment epitheliopathy (APMPPE) and serpiginous choroiditis (SC). METHODS: In this, multicenter, reliability, validity and comparative study; OCTA was performed on eyes with resolved APMPPE and SC and normal individuals. CC texture classification, low flow area measurements and GLCM feature extraction were performed. RESULTS: A total of 13 normal, 8 APMPPE and 15 SC eyes were analyzed. All GLCM parameters demonstrated an excellent reliability. GLCM parameters were differently distributed across the three groups. Decision-tree based on the random forest predictive model provided an overall accuracy of 86% in classifying the three groups using GLCM features. CONCLUSION: These data demonstrated an excellent reliability and validity of GLCM features in quantifying the choriocapillaris in healthy and diseased eyes.

A Diagnostic Dilemma of Dysphonia: A Case Report on Laryngeal Myasthenia Gravis.

An autoimmune neuromuscular junction disorder, myasthenia gravis, occurs when antibodies are produced against postsynaptic membrane acetylcholine receptors. Late-onset myasthenia gravis, a rare variant of the disease found in the elderly, has become a diagnostic challenge on account of its atypical presentation. We proffer a case of a 60-year-old man that presented with progressive dysphonia and weakening of cough, which was eventually followed by difficulty in swallowing and nasal regurgitation. Examination and laboratory workup came out unremarkable apart from a positive acetylcholine receptor antibody test, due to which a diagnosis of laryngeal myasthenia, an uncommon presentation of late-onset myasthenia gravis was made. Following treatment with pyridostigmine and prednisolone saw a relief of the active complaints. This article highlights the need for physicians to stay alert and have a high suspicion of such probability for timely diagnosis.

Factitious disorder, presenting haemolacria in a Pakistani tribal illiterate female: A rare case report.

INTRODUCTION: It could be challenging for healthcare workers to diagnose patients with factitious disorder who present with rare ophthalmologic manifestations such as haemolacria, because of the unavailability of adequate literature and associated guidelines. The present case report aims to fulfill this knowledge gap. CASE PRESENTATION: A 20-year-old tribal illiterate married female patient with symptoms of bleeding episodes from her left eye was admitted to the hospital. An extensive workup was done for diagnosing possible bleeding disorders but all the parameters were normal. Later on, she was diagnosed with factitious disorder presenting haemolacria after sufficient evidence at the psychiatric unit observations. The patient was treated accordingly, counseled and discharged, but lost-out to follow-ups. PRACTICAL IMPLICATIONS: The present case is reported from a developing country, Pakistan, for the first-time may help in diagnosing patients suffering from factitious disorder with unusual ophthalmologic problems.

Far and Few Between: Early Onset Multiple Myeloma in a 26-Year-Old Female.

Multiple myeloma (MM), a common hematologic malignancy, is predominantly a disease of old age with a median age at diagnosis hovering around 70 years. Medical literature remains largely bereft of reports of the ailment in young female patients. We chronicle the case of a 26-year-old female patient who presented with a history of fever, weight loss, constipation, frequent infections, and back and chest pain. Laboratory workup divulged underlying anemia, renal impairment, increased calcium, and significant urinary proteins, insinuating a diagnosis of MM. Subsequent bone marrow examination confirmed a diagnosis of MM. Following treatment with a concoction of dexamethasone, cyclophosphamide and bortezomib, the patient improved rapidly, and her clinical symptoms abated. This article further accentuates the need for physicians to be cognizant of the possibility of early-onset MM in unusually young patients.

Ascites in Patients on Maintenance Hemodialysis: Causes, Characteristics and Predicting Factors.

OBJECTIVE: To describe the causes, characteristics and factors associated with ascites in patients on maintenance hemodialysis. STUDY DESIGN: Observational study. PLACE AND DURATION OF STUDY: Department of Hepatogastroenterology, Sindh Institute of Urology and Transplantation, Karachi, from November 2007 to November 2014. METHODOLOGY: All patients on maintenance hemodialysis and age > 16 years with ascites were included. Frequencies and percentages were computed for different categorical variables. Chi-square or Fischer exact test were used to identify factors associated with ascites like frequency of hemodialysis, serum albumin and cardiac ejection fraction (EF). Odds ratios were calculated for associated factors. RESULTS: Ninety patients were included in this study; 55.5% were males. Median age was 33 years. Cause of ascites was nephrogenic in 77.8%, cardiac failure in 16.7%, hypothyroidism in 6.67%, liver cirrhosis in 4.4%, abdominal tuberculosis in 2.2%, and peritoneal carcinomatosis in 1.1% patients. The ascites was severe in 53.3% patients and severity was associated with serum albumin < 2.8 gm/dL(p=0.007) and cardiac EF < 40% (p=0.028). The ascites was low serum ascites albumin gradient (SAAG), high protein type (LSHP) in 60% patients and associated with hemorrhage (p=0.040). High SAAG, high protein (HSHP) ascites, found in 33.3%, was associated with cardiac EF < 40% (p=0.005) and portal hypertension (p=0.048). High SAAG, low protein (HSLP) ascites, seen in 6.7%, was associated with portal hypertension (p=0.006). CONCLUSION: The commonest cause of ascites in hemodialysis dependent patients is nephrogenic followed by cardiac failure. Low serum albumin and low cardiac EF predispose to severe forms of ascites.

Spontaneous cholecystocutaneous fistula.

We report a case of cholecystocutaneous fistula in a 90 years old female as a complication of gallstone disease. Patient presented with necrotizing fasciitis of anterior abdominal wall and cholecystocutaneous fistula. She was bedridden for the last 3 years due to cerebral vascular accident. She was a known case of chronic cholecystitis and 2 years back common bile duct stenting was done, in Jeddah, for obstructive jaundice but cholecystectomy was not done because patient was not fit for surgery.

Applications and complications of subclavian vein catheterization for hemodialysis.

OBJECTIVE: To study the indications, complications and duration of 605 subclavian catheters inserted over a period of 4 years as venous access for the management of renal failure in local setup. DESIGN: Cross-sectional descriptive study. PLACE AND DURATION OF STUDY: Hemodialysis section, Department of Urology and Kidney Transplantation, Lahore General Hospital, Lahore. The study was conducted from October, 1998 to July, 2002. SUBJECTS AND METHODS: All patients coming for dialysis during the period of October 1998 to July 2002 were included information noted on specific form. RESULTS: Among the patients who underwent subclavian vein catheterization, 75.2% patients were suffering from chronic renal failure and 24.7% patients were admitted for acute renal failure. Among chronic renal failure patients, 21.9% catheters had to be replaced due to various complications e.g. thrombosis, infection or kinking of the catheter. The subclavian catheters remained in place for a mean duration of 4 weeks. Early complications encountered were arterial puncture, inability to cannulate the innominate vein, hemothorax, puncture of thoracic duct, hemomediastinum, arrhythmias and pulmonary hematoma in 10.7%, 16.5%, 0.5%, 0.2%, 0.6% and 0.2% of patients respectively. Mortality attributed to the procedure occurred in 0.1 % cases. Delayed complications included early infection in 15% catheterizations while delayed infection occurred in 39 % cases. CONCLUSION: Percutaneous subclavian catheterization is valuable, relatively easy to learn and safe method with acceptable rate of complications for patients necessitating hemodialysis and no established permanent vascular access.