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Introduction: Epilepsy is a group of neurological disorders characterized by recurring seizures and fits. The Epilepsy genes can be classified into four distinct groups, based on involvement of these genes in different pathways leading to Epilepsy as a phenotype. Genetically the disease has been associated with various pathways, leading to pure epilepsy-related disorders caused by CNTN2 variations, or involving physical or systemic issues along with epilepsy caused by CARS2 and ARSA, or developed by genes that are putatively involved in epilepsy lead by CLCN4 variations. Methods: In this study, five families of Pakistani origin (EP-01, EP-02, EP-04, EP-09, and EP-11) were included for molecular diagnosis. Results: Clinical presentations of these patients included neurological symptoms such as delayed development, seizures, regression, myoclonic epilepsy, progressive spastic tetraparesis, vision and hearing impairment, speech problems, muscle fibrillation, tremors, and cognitive decline. Whole exome sequencing in index patients and Sanger sequencing in all available individuals in each family identified four novel homozygous variants in genes CARS2: c.655G>A p.Ala219Thr (EP-01), ARSA: c.338T>C: p.Leu113Pro (EP-02), c.938G>T p.Arg313Leu (EP-11), CNTN2: c.1699G>T p.Glu567Ter (EP-04), and one novel hemizygous variant in gene CLCN4: c.2167C>T p.Arg723Trp (EP-09). Conclusion: To the best of our knowledge these variants were novel and had not been reported in familial epilepsy. These variants were absent in 200 ethnically matched healthy control chromosomes. Three dimensional protein analyses revealed drastic changes in the normal functions of the variant proteins. Furthermore, these variants were designated as "pathogenic" as per guidelines of American College of Medical Genetics 2015. Due to overlapping phenotypes, among the patients, clinical subtyping was not possible. However, whole exome sequencing successfully pinpointed the molecular diagnosis which could be helpful for better management of these patients. Therefore, we recommend that exome sequencing be performed as a first-line molecular diagnostic test in familial cases. [ABSTRACT FROM AUTHOR]

Objective: To quantify the correlation between Glycated Haemoglobin, Serum Lipids and overweight/obese Type II patients with diabetes. Study Design: Cross-sectional study. Place and Duration of Study: Department of Internal Medicine and Endocrinology/Diabetology, PIMS (FMTI), Islamabad Pakistan, from Jul 2020 to Dec 2020. Methodology: The study population comprised of severely overweight and obese patients of diabetes. Their laboratory investigations for lipid profile and HbA1c levels were measured. Correlation coefficients between lipid profile, HbA1c levels and obesity were computed. Results: In this study, 112 patients of diabetes were included in the study. The mean age of patients was 48.2±3.4 years, and females were slightly greater (29,51.8%). The average BMI level was 31.98±3.32kg/m2. HbA1c was found to be positively correlated with total cholesterol (r= 0.702, p-value, <0.001) and BMI (r= 0.231, p-value, 0.054) and negatively correlated with HDL levels (r=-0.372, p-value, 0.005) in the study patients. HDL was also negatively correlated with BMI levels (r=-0.314, p-value 0.01). Conclusion: HbA1c was positively correlated with BMI and total cholesterol in patients with diabetes. Moreover, HDL significantly negatively correlated with obesity and HbA1c [ABSTRACT FROM AUTHOR]

Acute viral hepatitis, including hepatitis A, B, E, D, and G, can lead to severe bone marrow suppression due to cytotoxic lymphocytes. The bone marrow suppression causes aplastic anaemia which is mostly unresponsive to immunosuppressive therapy. Such patients require bone marrow transplant for a complete cure. The pancytopenia can evolve during recovery from transaminitis. We are presenting two case reports relating aplastic anaemia with acute viral hepatitis in two young patients-23 and 16 years of age. The 23-year-old female patient had hepatitis A associated with aplastic anaemia whereas the young 16-year-old male patient was diagnosed with Hepatitis E IgG associated aplastic anaemia. Unfortunately, the first patient could not cope with the complications relating to pancytopenia and was unable to reach the bone marrow transplant stage. The second patient did not have a bone marrow transplant but showed an excellent response to immunosuppressive therapy before the transplant and survived.

COVID-19 is a viral disease caused by a novel coronavirus that ignited the ongoing pandemic in December 2019. The infected patients may be asymptomatic, have fever and myalgias, develop mild pulmonary symptoms or go into overt respiratory failure. There is also a significant number of patients with gastrointestinal and thromboembolic disease presentation and complications. Since respiratory features predominate, physicians might miss other systemic manifestations. Here, we present the case of a 62-year-old male who was admitted with COVID-19 pneumonia and later went into septic shock and then developed acute abdomen caused by small gut perforation.