An Insight into the lynch Syndrome: Retrospective Study of the Pattern of Presentation and Management of Lynch Syndrome in Pakistan.

Introduction: The primary objective of this study was to evaluate the baseline characteristics of Lynch syndrome (LS). Furthermore, the study aimed to evaluate overall survival (OS) among patients with LS. Materials and Methods: This was a retrospective study of colorectal cancer patients registered from January 2010 to August 2020 with an immunohistochemical diagnosis of LS. Results: A total of 42 patients were assessed. The mean age at presentation was 44 years, with male predominance (78%). Demographic preponderance was from the North of Pakistan (52.4%). The family history was positive in 32 (76.2%) patients. The colonic cancer distribution was 32 (76.2%) on the right side. Most of the patients presented with Stage II disease (52.4%), and the common mutations were MLH1 + PMS2 16 (38.1%) followed by MSH2 + MSH6 9 (21.4%). The 10-year OS was found to be 88.1%. However, the OS was 100% post pancolectomy. Conclusion: LS is prevalent in the Pakistan population, especially in the North of Pakistan. Clinical presentation and survivals are similar to the Western population.

Efficacy and safety of rituximab as second-line therapy in immune thrombocytopenic purpura based on ethnicity: A descriptive study among the Arabic population.

BACKGROUND: Rituximab is used as second-line therapy in patients with immune thrombocytopenic purpura (ITP) who do not respond to first-line management. The response rate for Rituximab is variable in different populations ranging from 30% to 90%. The adverse effects of rituximab in patients with ITP range from infusion site reactions to the reactivation of hepatitis B virus and progressive multifocal leukoencephalopathy and interpopulation variation. METHODS: We conducted a single-center, retrospective study in Qatar's National Center for Cancer Care & Research. The study included patients with chronic refractory ITP who received rituximab as second-line therapy. Descriptive and summary statistics were used to describe the sociodemographic parameters of the study cohort. RESULTS: Of the 41 patients with chronic ITP, 26 were Arabs, 12 were Asians, and 3 were of other ethnicities. Rituximab was associated with an overall response rate of 80.4%. Arabic patients had the highest clinical response (84.6%) among the ethnicities with the lowest adverse effects (11.5%). Asians had a response rate of 66.6%, and adverse effects were seen in 16.7% of the patients. CONCLUSIONS: In chronic refractory ITP, rituximab appears to have a better clinical response in the Arabic population with minimal toxicity than in other ethnicities.

Hereditary Pheochromocytoma With a Mutation in the Succinate Dehydrogenase Subunit A Gene.

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with diverse clinical presentations. Pathogenic variants in the genes encoding different subunits of the succinate dehydrogenase enzyme complex that plays a central role in energy metabolism have been linked to hereditary PPGL syndromes. Here we report a rare case of hereditary pheochromocytoma with a novel mutation in the succinate dehydrogenase subunit A (SDHA) gene.  A middle-aged woman presented with left-sided abdominal pain and was incidentally found to have bilateral adrenal lesions on abdominal imaging. Imaging characteristics were suggestive of pheochromocytoma. She denied any symptoms of catecholamine excess but her plasma metanephrines level was elevated. Iodine-131 metaiodobenzylguanidine (131I-MIBG) whole-body scan showed abnormal focal radiotracer uptake at the left adrenal gland, and she then underwent left-sided adrenalectomy. Following surgery, the patient had symptomatic relief and histopathology confirmed the diagnosis of pheochromocytoma. Genetic testing revealed that she was positive for a pathogenic mutation in the SDHA gene consistent with the diagnosis of hereditary PPGL syndrome.  The detection of susceptibility genes for hereditary PPGL syndromes has key implications, for surveillance to detect extra-adrenal disease and recurrent tumors, as well as for consideration of genetic testing for family members.

Urine retention as presenting manifestation of tuberculous meningitis complicated by lacunar infarction and transverse myelitis: Case report and literature review.

Early diagnosis and management of tuberculous meningitis will prevent lethal and fatal neurological complications such as acute infarction and permanent disability.

COVID-19-Associated Bronchiectasis and Its Impact on Prognosis.

Coronavirus disease 2019 (COVID-19), which initially emerged in Wuhan, China, has rapidly swept around the world, causing grave morbidity and mortality. It manifests with several symptoms, on a spectrum from asymptomatic to severe illness and death. Many typical imaging features of this disease are described, such as bilateral multi-lobar ground-glass opacities (GGO) or consolidations with a predominantly peripheral distribution. COVID-19-associated bronchiectasis is an atypical finding, and it is not a commonly described sequel of the disease. Here, we present a previously healthy middle-aged man who developed progressive bronchiectasis evident on serial chest CT scans with superimposed bacterial infection following COVID-19 pneumonia. The patient's complicated hospital course of superimposed bacterial infection in the setting of presumed bronchiectasis secondary to COVID-19 is alleged to have contributed to his prolonged hospital stay, with difficulty in weaning off mechanical ventilation. Clinicians should have high suspicion and awareness of such a debilitating complication, as further follow-up and management might be warranted.

COVID-19-positive cancer patients undergoing active anticancer treatment: An analysis of clinical features and outcomes.

BACKGROUND: Cancer patients, particularly those on active anticancer treatment, are reportedly at a high risk of severe coronavirus disease 2019 (COVID-19) infection and death. This study aimed to describe the clinical characteristics and outcomes of patients diagnosed with COVID-19 whilst on anticancer treatment in a developing country. METHODS: This is a retrospective observational study of all adult cancer patients at Shaukat Khanum Memorial Cancer Hospital and Research Centre, Pakistan, from March 15, 2020 to July 10, 2020, diagnosed with COVID-19 within 4 weeks of receiving anticancer treatment, where a purposive sampling was performed. Cancer patients who did not receive anticancer treatment and clinical or radiological diagnosis of COVID-19 without a positive reverse transcription-polymerase chain reaction (RT-PCR) test were excluded. The primary endpoint was all-cause mortality after 30 days of COVID-19 test. Data was analyzed with SPSS version 23 (SPSS Inc., Chicago, IL, USA). Categorical parameters were computed using chi-square test, keeping p value < 0.05 as significant. RESULTS: A total of 201 cancer patients with COVID-19 were analyzed. The median age of patients was 45 (18-78) years. Mild symptoms were present in 162 (80.6%) patients, whereas severe symptoms were present in 39 (19.4%) patients. The risk of death was statistically significant (p < .05) amongst patients with age greater than 50 years, metastatic disease, and ongoing palliative anticancer treatment. Anticancer treatment (chemotherapy, radiotherapy, hormonal therapy, targeted therapy, and surgery) received within preceding 4 weeks had no statistically significant (p > .05) impact on mortality. CONCLUSIONS: In cancer patients with COVID-19, mortality appears to be principally driven by age, advanced stage of the disease, and palliative intent of cancer treatment. We did not identify evidence that cancer patients on chemotherapy are at significant risk of mortality from COVID-19 correlating to those not on chemotherapy.

Modern Management Of Duodenal Variceal Bleeding.

Duodenal variceal bleeding is an uncommon cause of gastrointestinal bleeding. Treatment strategies are reliant on case reports and case series with new developments in interventional treatment modalities including endoscopic therapy, radiological intervention, and surgery. Endoscopic treatment includes injection sclerotherapy using various agents, banding of varices and clipping of varices. Interventional radiological procedures include Transjugular Intrahepatic porto-systemic shunt (TIPSS), and Balloon- Occluded Retrograde Transvenous Obliteration (BRTO). Surgical treatment could be suture ligation of varices or gastro-duodenectomy. In this article, a case report of upper gastrointestinal bleed, and management of duodenal varices is described, with review of the literature to offer optimum modern era treatment to these high risk gastrointestinal bleeds.

Eosinophilic colitis mimicking caecal malignancy.

Primary eosinophilic diseases of the gastrointestinal tract are increasingly being recognised in adults. Bosinophilic colitis is even less understood and presents with highly variable symptoms depending on the depth of mucosal involvement. We are presenting a case of primary eosinophilic colitis presenting with diarrhoea and localized caecal perforation. Pre-operative computed tomography suggested caecal malignancy and possible livier mnetastasis. Patient underwent an emergency laparoscopic right hemicoloectomy and histology revealed eosinophilic colitis. Post- operative period was complicated by pulmonary embolism and deep vein thrombosis. Secondary causes of eosinophilia were appropriately investigated and excluded. She made a good recovery and a post-operative colonoscopy looking for other areas of eosinophilia was normal.