Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities.

Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite a relatively high prevalence of inherited autosomal recessive diseases within Pakistan, this population remains significantly underrepresented in reference genomic databases.

Predictors of 30-day mortality in major lower limb amputations: insights from a five-year retrospective study in a South Asian LMIC.

Background: Major lower limb amputation (MLLA) is a life-saving procedure with significant morbidity and mortality. The objectives of this study were to determine the incidence of 30-day mortality, perioperative complications, and predictive risk factors of mortality in MLLA patients.

Methods: This retrospective cohort study included patients undergoing MLLA at The Aga Khan University Hospital, Pakistan, from January 2018 to December 2022.

Haemodialysis Adequacy: Ultraviolet vs. Calculated Methods.

Objective: To compare measuring methods of haemodialysis adequacy; realtime urea reduction ratio (RT-URR) and realtime Kt/V (RT- Kt/V) with calculated urea reduction ratio (C-URR) and calculated Kt/V (C-Kt/V), respectively, in end-stage kidney disease (ESKD) patients.

Study Design: Cross-sectional prospective study. Place and Duration of the Study: Department of Nephrology, Mayo Hospital, King Edward Medical University, Lahore, Pakistan, from July to December 2023.

Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.

Primary Congenital Glaucoma (PCG) is a severe form of glaucoma that affects infants and young children that damage and causes vision impairment. Despite being a well-known condition, the genetic basis of PCG, particularly in highly consanguineous populations like the Pashtun community, still needs to be explored. Six consanguineous Pashtun families (PCG-01, PCG-02, PCG-03, PCG-04, PCG-05, & PCG-07) suffering from PCG were recruited for whole exome sequencing.

Diagnostic Accuracy of Computed Tomography (CT) Coronary Angiography Compared to Invasive Coronary Angiography for Detecting Coronary Artery Disease: A Systematic Review.

Coronary artery disease (CAD) is a significant cause of morbidity and mortality worldwide, and the prevalence is continually rising. Invasive coronary angiography (ICA) has been considered the gold standard in CAD diagnosis as it offers precise information about the presence and severity of coronary artery blockages. However, computed tomography coronary angiography (CTCA) has emerged as a preferred noninvasive imaging technique from the viewpoint of patient risk because it provides high-resolution coronary images.

Association Between -592 C/A Polymorphism of Interleukin-10 Gene and Diabetic Nephropathy in Type 2 Diabetes Mellitus Patients.

Objective: To establish the association between -592 C/A polymorphism of interleukin (IL)-10 gene and Diabetic Nephropathy (DNP) in Type 2 Diabetes Mellitus (T2DM) patients.

Study Design: Comparative observational study. Place and Duration of the Study: Department of Nephrology (in collaboration with Biochemistry and Advanced Research Centre for Biomedical Sciences (ARCB)), Mayo Hospital and King Edward Medical University, Lahore, Pakistan, from January to December 2021.

Perspectives of medical students on the implementation of sub-internship rotation in year 5 surgical clerkship: A brief report from a private medical college in Pakistan.

This study aims to explore the perspectives of medical students on the newly introduced Surgical Sub-internship (SI) rotation in year 5 Surgical Clerkship. This cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, Pakistan from September 2022 to September 2023. A self-designed 5-point Likert scale-based evaluation form was created to explore students' perspectives regarding their one-week Surgical SI rotation.

Assessing the quality of ChatGPT's responses to questions related to radiofrequency ablation for varicose veins.

Objective: This study aimed to evaluate the accuracy and reproducibility of information provided by ChatGPT, in response to frequently asked questions about radiofrequency ablation (RFA) for varicose veins.

Methods: This cross-sectional study was conducted at The Aga Khan University Hospital, Karachi, Pakistan. A set of 18 frequently asked questions regarding RFA for varicose veins were compiled from credible online sources and presented to ChatGPT twice, separately, using the new chat option.

Association of neutrophil-to-lymphocyte ratio and hemodialysis access failure in patients with end stage renal disease: A systematic review and meta-analysis.

This systematic review and meta-analysis aimed to assess the association of neutrophil-to-lymphocyte ratio (NLR) with an elevated risk of vascular access failure in end-stage renal disease (ESRD) patients undergoing hemodialysis. A comprehensive database search of MEDLINE (via PubMed), Scopus, and Cochrane Central was performed. Studies reporting the values of NLR in both functional and non-functional AVF groups in ESRD patients were selected.

Comparison Between Pregabalin and Sertraline in the Treatment of Uremic Pruritus in Patients With Maintenance Hemodialysis.

Introduction Pruritus, a medical symptom also known as itch, is characterized by an unpleasant feeling coupled with the urge to scratch. Patients with chronic kidney disease (CKD) often have symptoms of pruritus due to uremia, which has adversely affected their quality of life. The treatment protocol for CKD pruritus is still being debated due to its unclear etiopathogenesis.

Aetiologies of Leg Pain among Patients Presenting to a Vascular Surgery Clinic.

Objective: To determine the frequency and pattern of different aetiologies of leg pain among patients visiting vascular surgery clinics.

Study Design: Cross-sectional study. Place and Duration of the Study: Vascular Surgery Clinics of the Aga Khan University Hospital, Karachi, Pakistan, between February 2021 and June 2023.

Predictors of cognitive impairment and its association with mortality in maintenance hemodialysis patients: A prospective follow-up study.

Objective: To determine predictors of cognitive impairment (CI) and its association with mortality in maintenance haemodialysis (MHD) patients.

Methods: This prospective follow up study was conducted at HD Department, Mayo Hospital, Lahore from September, 2021 to November, 2022. All patients undergoing MHD for more than three months and having age between 18-65 years were included while those with dialysis duration less than three months, history of neuropsychiatric illness was excluded.

Identification of allelic relationship and translocation region among chromosomal translocation lines that leads to less-seed watermelon.

Less-seed and seedless traits are desirable characteristics in watermelon (). Hybridization between watermelon chromosomal translocated lines and wild lines significantly reduced seed counts in the hybrid fruits, approaching even seedless. However, the allelic relationships and the chromosomal translocation breakpoints from different sources are unclear, which limits their utility in breeding practices.

Exploration of reducing and stabilizing phytoconstituents in Arisaema dracontium extract for the effective synthesis of Silver nanoparticles and evaluation of their antibacterial and toxicological proprties.

Medicinal plants have been widely used for their antimicrobial properties against various microorganisms. Arisaema dracontium a familiar medicinal plant, was analyzed and silver nanoparticles (AgNPs) were synthesized using extracts of different parts of its shoot including leaves and stem. Further, the antimicrobial activity of different solvent extracts such as ethyl acetate, n-hexane, ethanol, methanol, and chloroform extracts were analyzed.

A short report on the current landscape of Artificial Intelligence (AI) in vascular surgery in Pakistan.

This study focuses on the current applications, potential, and challenges to Artificial Intelligence (AI) integration in vascular surgery with specific emphasis on its relevance in Pakistan. Despite the benefits of AI in vascular surgery, there is a substantial gap in its adoption in Pakistan compared to global standards. In our context with limited resources and a scarcity of vascular surgeons, AI can serve as a promising solution.

Phytogenic-Mediated Zinc Oxide Nanoparticles Using the Seed Extract of and Its Integrated Potency against Multidrug Resistant Bacteria.

In the current research study, zinc oxide nanoparticles (ZnO-NPs) were synthesized via a green synthesis technique using the seed extract of . The study further intended to evaluate the potential synergistic effects of ZnO-NPs with antibiotics against multidrug resistant (MDR) bacteria. It was observed that seed extracts obtained by -hexane and methanolic solvents revealed the presence of constituents, such as tannins, flavonoids, and terpenoids.

Association between smoking status and inpatient outcomes of acute cholangitis in the United States: a propensity matched analysis.

Background: Acute cholangitis (AC) is an infection of the biliary tract superimposed on stasis. This study aimed to investigate the effects of smoking on inpatient outcomes of AC.

Methods: We identified primary AC hospitalizations using the National Inpatient Sample database (2017-2020).

Association of Empirical Dietary Inflammatory Potential with Mortality: Results from the Third National Nutrition Examination Survey.

Background: The empirical dietary inflammatory potential (EDIP) score is designed to assess the inflammatory potential of a diet based on the pro- and anti-inflammatory properties of its various components. This study examined the association of EDIP with all-cause mortality in a large, community-based, multiracial sample of the United States population.

Study Design: A prospective cohort study.

Usefulness of electrocardiography QT interval for prediction of left ventricular diastolic dysfunction: a cross-sectional study.

Unlabelled: Heart failure (HF) is a leading cause of morbidity and mortality worldwide, with projections showing a further rise in incidence, impacting a decline in quality of life and the costs incurred in its diagnosis and treatment. The authors aim to establish the correlation between the prediction of left ventricular diastolic dysfunction based on a change in QT wave intervals.

Methods: A cross-sectional at Holy-family Hospital, Rawalpindi Medical University, Pakistan.

Normal preoperative levels of gamma-glutamyltransferase predict the absence of common bile duct stones in patients scheduled for laparoscopic cholecystectomy: a retrospective cohort study.

Unlabelled: Laparoscopic cholecystectomy, nowadays, is considered the gold standard option for management in patients diagnosed with symptomatic cholelithiasis. Nevertheless, some patients may have coexisting choledocholithiasis, which manifests later in life with grave complications such as cholangitis and pancreatitis. The objective of this study is to evaluate the role of preoperative gamma-glutamyltransferase (GGT) in predicting choledocholithiasis in patients undergoing laparoscopic cholecystectomy.

Comparative physiological and biochemical mechanisms in diploid, triploid, and tetraploid watermelon (Citrullus lanatus L.) grafted by branches.

Seed production for polyploid watermelons is costly, complex, and labor-intensive. Tetraploid and triploid plants produce fewer seeds/fruit, and triploid embryos have a harder seed coat and are generally weaker than diploid seeds. In this study, we propagated tetraploid and triploid watermelons by grafting cuttings onto gourd rootstock (C.