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This case report presents a remarkable convergence of autoimmune diseases in a young female patient who initially presented with syncope and was subsequently diagnosed with pericardial effusion-induced cardiac tamponade. Through meticulous investigation, she was found to have Hashimoto's thyroiditis alongside an atypical presentation of systemic lupus erythematosus (SLE), marked by a unique form of antinuclear antibody positivity. Treatment involved a combination of steroids, immunosuppressants, and thyroid hormone replacement. This intricate association between intersecting autoimmune disorders, with atypical presentations and cardiovascular manifestations, underscores the complexity of autoimmune pathology and the importance of a high index of suspicion in reaching accurate diagnoses. [ABSTRACT FROM AUTHOR]

Hereditary neuromuscular disorders (NMDs) are a broad group of clinically heterogeneous disorders with varying inheritance patterns, that are associated with over 500 implicated genes. In the context of a highly consanguineous Pakistani population, we expect that autosomal recessive NMDs may have a higher prevalence compared with patients of European descent. This is the first study to offer a detailed description of the spectrum of genes causing hereditary NMDs in the Pakistani population using NGS testing. To study the clinical and genetic profiles of patients presenting for evaluation of a hereditary neuromuscular disorder. This is a retrospective chart review of patients seen in the Neuromuscular Disorders Clinic and referred to the Genetics Clinic with a suspected hereditary neuromuscular disorder, between 2016 and 2020 at the Aga Khan University Hospital, Karachi and Mukhtiar A. Sheikh Hospital, Multan, Pakistan. The genetic testing for these patients included NGS‐based single gene sequencing, NGS‐based multi‐gene panel and whole exome sequencing. In a total of 112 patients studied, 35 (31.3%) were female. The mean age of onset in all patients was 14.6 years (SD ±12.1 years), with the average age at presentation to the clinic of 22.4 years (SD ±14.10 years). Forty‐seven (41.9%) patients had a positive genetic test result, 53 (47.3%) had one or more variants of uncertain significance (VUS), and 12 (10.7%) had a negative result. Upon further genotype–phenotype correlation and family segregation analysis, the diagnostic yield improved, with 59 (52.7%) patients reaching a diagnosis of a hereditary NMD. We also report probable founder variants in COL6A2, FKTN, GNE, and SGCB, previously reported in populations that have possible shared ancestry with the Pakistani population. Our findings reemphasizes that the rate of VUSs can be reduced by clinical correlation and family segregation studies. [ABSTRACT FROM AUTHOR]

A woman in her late 20s was admitted via the emergency department in the psychiatric ward with acute-onset behavioural changes and suicidal thoughts in the past 2weeks. Workup revealed positive N-methyl-D-aspartate (NMDA) receptor antibodies in cerebrospinal fluid and electroencephalogram (EEG) showing a specific pattern of delta brush on bilateral frontal regions. Other investigations were unremarkable. The patient was started on intravenous methylprednisolone 1000mg for 5 days with oral steroids. She responded on steroids. She has been recommended for workup for teratoma/ mediastinal tumours with NMDA receptor encephalitis is an autoimmune disorder predominantly affecting women of childbearing age. Delta brush pattern on EEG is specific for NMDA receptor encephalitis hence can be used as a diagnostic tool. It is advisable to investigate any patient with the presentation of mental deterioration for pathological causes. However, treatment with immunotherapy increases the chance of survival and may prevent cognitive impairment. [ABSTRACT FROM AUTHOR]

PIK3CA is the most frequently mutated oncogene in human cancers. PIK3CA is phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha. It controls cell growth, proliferation, motility, survival, differentiation and intracellular trafficking. In most of human cancer alteration occurred frequently in the alpha isoform of phosphatidylinositol 3 kinase. PIK3CA mutations were most frequent in endometrial, ovarian, colorectal, breast, cervical, squamous cell cancer of the head and neck, chondroma, thyroid carcinoma and in cancer family syndrome. Inhibition of PI3K signaling can diminish cell proliferation, and in some circumstances, promote cell death. Consequently, components of this pathway present attractive targets for cancer therapeutics. A number of PI3K pathway inhibitors have been developed and used. PI3K inhibitors (both pan-PI3K and isoform-specific PI3K inhibitors), dual PI3K-mTOR inhibitors that are catalytic site inhibitors of the p110 isoforms and mTOR (the kinase component of both mTORC1 and mTORC2), mTOR catalytic site inhibitors, and AKT inhibitors are the most advanced in the clinic. They are approved for the treatment of several carcinomas., Author(s): Sidra German[sup.1] , Hafiz Muhammad Aslam[sup.1,2] , Shafaq Saleem[sup.1] , Aisha Raees[sup.1] , Tooba Anum[sup.1] , Arsalan Ahmad Alvi[sup.1] and Abdul Haseeb[sup.1] Findings PIK3 was discovered by Lewis Cantley [...]

Objective: The study aims to determine the relation of serum uric acid levels, glycated haemoglobin A1c (HbA1c) and insulin levels in Type II Diabetes Mellitus as well as their role as potential disease predictors Method: This cross-sectional study was conducted in the Department of General Medicine, FFH Rawalpindi (Jan-Jul 2020). A total of 160 adults with diagnosed type II diabetes mellitus were included. Blood reports of patients were analyzed for serum uric acid, HbA1c levels and insulin levels. The inclusion and exclusion criteria were strictly followed to control confounders and bias. Data was analyzed by SPSS V 23. Qualitative variables like gender were measured in the form of percentages and frequencies. Means and standard deviations were calculated for quantitative data like age, type II diabetes mellitus duration, weight, serum uric acid, HbA1c and serum insulin levels. Pearson correlation test was used to assess the relationship between serum uric acid & HbA1c levels, and serum uric acid & insulin levels. The data was stratified into the following types of patient groups: a low & high HbA1c level group (<6.5% and >6.5% respectively), and a low & high insulin level group (with 25 mIU/L being the cut-off value) in male and female gender groups. Post stratification relation was calculated. A p-value <0.05 was considered statistically significant. Results: Among 160 patients, the mean age was 50.52+13.35 years; there were 59 (36.9%) males and 101(63.1 %) females. There was no significant correlation observed between serum uric acid levels and HbA1c levels concerning gender stratification, as well as, between serum uric acid and HbA1c levels at low & high insulin levels in type II diabetes mellitus. Conclusion: The study concluded no positive relation between serum uric acid levels, glycated haemoglobin A1c as well as serum insulin levels in type II diabetes mellitus patients. [ABSTRACT FROM AUTHOR]