Non-syndromic Intellectual Disability: An Experimental In-Depth Exploration of Inheritance Pattern, Phenotypic Presentation, and Genomic Composition.

Background Intellectual disability (ID), also termed mental retardation (MR), is a neurodevelopmental disorder characterized by an intelligence quotient (IQ) of 70 or below and a deficit in at least two behaviors associated with adaptive functioning. The condition is further classified into syndromic intellectual disability (S-ID) and non-syndromic intellectual disability (NS-ID). This study highlights the genes associated with NS-ID.

BRASH Syndrome: A Systematic Review of Reported Cases.

The pathophysiology of Bradycardia-Renal Failure-Atrioventricular Nodal Blockade-Shock-Hyperkalemia (BRASH) syndrome involves acute renal injury leading to ineffective clearance of AV nodal agents and potassium. Theoretically, the synergy between AV nodal blockade and hyperkalemic cardiac dysconduction results in circulatory collapse at less-than-expected doses of both. Our study aims to characterize the presentation of BRASH and provide clinical evidence of its risk factors.

Perceptions of students regarding innovative approaches introduced in nutrition and metabolism module at Shifa college of medicine.

Objective: To assess the perceptions of 2nd year medical students regarding certain approaches introduced in the course of Nutrition and Metabolism module.

Methods: The descriptive study was conducted at the Shifa College of Medicine, Islamabad, Pakistan, in December 2020, and comprised all 2nd year medical students who completed the Nutrition and Metabolism module in which new components had been added, including introduction to community nutrition, school visits, Islamic perspective of nutrition, journal club and e-posters. Data was collected using a questionnaire based on the modified Dundee Ready Education Environment Measure, and had 5 categories with a total of 25 questions that were scored on a 5-point Likert scale.

Comparison of Efficacy and Safety of Low-Dose Versus High-Dose Dexamethasone in Hospitalized COVID-19 Patients: A Meta-Analysis.

The aim of this study is to compare the efficacy and safety of low-dose and high-dose dexamethasone in hospitalized coronavirus disease 2019 (COVID-19) patients. The current meta-analysis was conducted in compliance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive literature search was carried out using PubMed, the Cochrane Central Register of Controlled Trials (CENTRAL), and Embase.

Rota Ablation - When There is No Other Option. A Complex Case of 86 Years Old Male with Multiple Comorbids Presenting With Stemi.

The aim of this report is to explore the direct and long-term outcome in a high risk patient who was treated with rotational atherectomy (RA) to assist the placement of drug eluting stents in heavily calcified lesions. The patient presented with acute STEMI and had severely calcified Left main stem (LMS) disease, requiring plaque modification before coronary angioplasty and stent implantation. As the patient was elderly, with multiple comorbids including a number of coronary interventions, a decision of conservative management was made.

Knowledge and perception of medical students towards the use of artificial intelligence in healthcare.

Objective: To assess the knowledge and perception of medical students regarding the utility and applications of artificial intelligence in medicine.

Methods: The cross-sectional study was conducted at the Shifa College of Medicine, Islamabad, Pakistan, from February to August 2021, and comprised medical students regardless of gender or year of studies. Data was collected using a pretested questionnaire.

A clinical account of Pakistani children suffering from congenital adrenal hyperplasia.

The objective of the endeavour was to study the clinical presentation, diagnosis, and management of paediatric patients suffering from congenital adrenal hyperplasia and understand the issue in the light of available published data on the disease in Pakistan through a systematic analysis of researches. From an analysis of five-year retrospective data on congenital adrenal hyperplasia in patients of paediatric age group from a tertiary care centre in the capital of Pakistan and the available published Pakistani literature on CAH, it was concluded that the resultant deficiency of cortisol, aldosterone, and a rise in adrenal androgens is responsible for the symptomatology observed in the disease. Particularly, the presence of ambiguous genitalia makes the disease a difficult problem to tackle, especially in complex social conditions such as in Pakistan.

Sudden Cardiac Death in Young Individuals: A Current Review of Evaluation, Screening and Prevention.

Sudden cardiac death (SCD) can affect all age groups, including young persons. While less common in the age < 35 population, the occurrence of SCD in the young raises concern, with multiple possible etiologies and often unanswered questions. While coronary artery disease is the leading cause in those > 35 years of age, the younger population faces a different subset of pathologies associated with SCD, including arrhythmias and cardiomyopathies.

Urban-Rural Disparities in Pulmonary Hypertension-Related Mortality Between 2004 and 2019: A Call to Improve Access to Specialty Care Centers for Rural Residents in the United States.

As rural-urban pulmonary hypertension (PH)-related mortality trends have not been reported past 2011, it is important to update the literature to provide guidance for necessary initiatives geared at minimizing barriers to social determinants of health. We extracted PH-related data between 2004 and 2019 from the Centers for Disease Control and Prevention Wide-Ranging OnLine Data for Epidemiologic Research (CDC WONDER). Crude-mortality rate and age-adjusted mortality rate (AAMR) were determined.

A historical delve into neurotrauma-focused critical care.

Neurocritical care is a multidisciplinary field managing patients with a wide range of aliments. Specifically, neurotrauma is a rapidly growing field with increasing demands. The history of how neurotrauma management came to its current form has not been extensively explored before.

Trends and Outcomes of Transcatheter Aortic Valve Implantation in Patients With Peripheral Arterial Disease: Insights From the National Readmissions Database.

Due to shared risk factors, many patients with severe aortic stenosis (AS) also have concomitant peripheral arterial disease (PAD). The readmission rates and long term clinical outcomes of these patients following transcatheter aortic valve implantation (TAVI) in a large sample has not been well defined. The National Readmissions Database (NRD) (2015-2019) was used to identify patients undergoing TAVI.

Impact of the COVID-19 pandemic on knowledge, perceptions, and effects of telemedicine among the general population of Pakistan: A national survey.

Background: Telemedicine is the provision of healthcare services through information and communication technology with the potential to mobilize all facets of the health sector to prevent the spread of COVID-19, provide quality healthcare, protect patients, doctors, and the public from exposure to disease, and reduce the burden on the healthcare system. This study aims to identify knowledge, perceptions, willingness to use, and the impact of the COVID-19 pandemic on telemedicine awareness.

Methods: A cross-sectional study was conducted from 27 May 2020 to 17 June 2020 using the convenient sampling technique in the general population of Pakistan.

A Case of Gastric Mucormycosis in a 21-Year-Old Patient With Hemophagocytic Lymphohistiocytosis.

Mucormycosis is an angioinvasive, opportunistic infection. Diabetes Mellitus and immunosuppression are the most common risk factors for fungal infection. Without prompt treatment, the infection can be fatal.

Algorithms to anonymize structured medical and healthcare data: A systematic review.

With many anonymization algorithms developed for structured medical health data (SMHD) in the last decade, our systematic review provides a comprehensive bird's eye view of algorithms for SMHD anonymization. This systematic review was conducted according to the recommendations in the Cochrane Handbook for Reviews of Interventions and reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA). Eligible articles from the PubMed, ACM digital library, Medline, IEEE, Embase, Web of Science Collection, Scopus, ProQuest Dissertation, and Theses Global databases were identified through systematic searches.

Late Presentation of Acute Limb Ischemia: Causes and Outcomes.

Objective: To determine the causes of interventions in patients with acute limb ischemia (ALI), the time lapse of presentation, and the outcome.

Study Design: An observational study.

Methodology: All delayed acute limb ischemia cases (presenting later than 6 hours after the onset of symptoms) were included in the study.

Enhancing Empathy in Medical Students by Focused Learner Centered Activities.

Objectives: To determine the change in empathy levels of medical students during their progress in professional years internship, and to examine change in empathy after targeted empathy enhancing activities during the course of medical school.

Study Design: Longitudinal Study.

Place And Duration Of Study: Shifa College of Medicine/ Shifa Tameer-e-Millat University, Islamabad, from January 2015 to December 2019.

Glaucoma Detection and Classification Using Improved U-Net Deep Learning Model.

Glaucoma is prominent in a variety of nations, with the United States and Europe being two of the most famous. Glaucoma now affects around 78 million people throughout the world (2020). By the year 2040, it is expected that there will be 111.

Gender Parity in High Impact Cardiology Journals.

Despite increased female representation in medical training, women physicians continue to be under-represented in academic cardiology, particularly in senior roles of authorship and leadership. We analyzed the top 20 most-cited cardiology journals (31,540 total articles) between January 1, 2018 and October 31, 2021 for gender distribution of editorial staff and authorship. Our data demonstrated that only 27% of articles had women as first authors and 20% as senior authors.

Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by mutation in resource limited countries.

Objectives: Vitamin D dependent rickets type 1A (VDDR1A) is a rare autosomal recessive condition due to inactivating mutation of . It mimics clinically, biochemically and rediologically to nutritional and hypophosphatemic rickets. In developing countries like Pakistan, VDDR1A is often misdiagnosed as nutritional rickets or hypophosphatemic rickets due lack of free access to 1,25 (OH) 2 D level and genetic testing.

Appraisal of selected ethnomedicinal plants as alternative therapies against onychomycosis: Evaluation of synergy and time-kill kinetics.

This study aims at the biological profiling of , , , , , , , and as alternatives against onychomycosis to combat the treatment challenges. An extract library of aqueous (DW), ethyl acetate (EA), and methanol (M) extracts was subjected to phytochemical and antioxidant colorimetric assays to gauge the ameliorating role of extracts against oxidative stress. RP-HPLC quantified therapeutically significant polyphenols.

COVID-19 loss of taste and smell: potential psychological repercussions.

The novel coronavirus (COVID-19) has become a cause for global concern. Apart from a multitude of symptoms, the virus is known for its ability to cause loss of taste and smell that can be irreversible in a few cases. In fact, even after recovery, post-covid syndrome can still lead to devastating outcomes, specifically with reference to loss of smell and taste.

Does the Implementation of Flipped Classroom Model Improve the Learning Outcomes of Medical College Students? A Single Centre Analysis.

Objective: To assess the perspectives of the first year and second year MBBS students of College, regarding the effectiveness of flipped classroom learning as compared to the traditional mode of teaching.

Study Design: A descriptive study.

Place And Duration Of Study: Shifa College of Medicine, Islamabad, Pakistan, from August to September 2021.

Procedural complications associated with percutaneous mitral balloon valvotomy: A systematic review.

Background: As Percutaneous mitral balloon valvotomy (PMBV) remains the keystone in treating mitral stenosis, we conducted this review to elucidate the cumulative frequency and predictors of complications following PMBV and their occurrence in various patient populations.

Areas Covered: We searched digital databases for relevant studies covering complications of PMBV and retrieved articles using the Medical Subject Heading (MeSH) keywords.

Expert Opinion: A total of 37 articles (8 RCTs, 7 nonrandomized clinical trials, 22 observational studies) were selected for qualitative analysis.

Effect of Body Mass Index on complications and success rates of percutaneous nephrolithotomy-A tertiary care hospital experience.

Background And Objectives: Urolithiasis is prevalent globally. Over time, innovation in endoscopic instruments and miniaturization has untangled the interventional strategy for carrying out remedial surgical procedures for renal stones. However, studies have been scarce as for sequelae of Percutaneous Nephrolithotomy (PCNL) in varying body mass index group patients in the developing world.

Impact of routine footwear on foot health: A study on plantar fasciitis.

Background: Plantar fasciitis is the most common cause of heel pain requiring medical attention. The clear understanding of the long-term impact routine footwear has on plantar fasciitis is essential as any slight changes in shoe selection could possibly prevent the wearer from substantial discomfort and disability. Thus this study was planned to investigate impact of routine footwear on foot health by highlighting different features of the shoes worn daily by the people having plantar fasciitis.