Metabolomics in Pakistan: A Comprehensive Analysis of Availability, Practices, and Challenges in Clinical Laboratories.

Objective: To comprehensively analyse the current state of metabolomics in clinical laboratories across Pakistan.

Study Design: Cross-sectional survey. Place and Duration of the Study: Section of Chemical Pathology, Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, Pakistan, from June to November 2022.

From Practice to Proficiency: Evaluation of a Novel Workplace-Based Assessment (WBA) in a Postgraduate Chemical Pathology Residency Program in Pakistan.

Introduction: A workplace-based assessment (WBA) model was implemented in the postgraduate (PG) residency program of Chemical Pathology at the Department of Pathology & Laboratory Medicine, Aga Khan University (AKU). PGs were assessed using direct observation of practical skills (DOPS), evaluation of clinical events (ECE) and case-based discussion (CBD) on a virtual learning environment (VLE) platform.

Objectives: To evaluate WBA frequency, case mix, feedback, and satisfaction levels of faculty and PGs of Chemical Pathology at AKU.

Advancing medical laboratory practice in Pakistan: insights from a focus group study on technologists' training needs.

Background: The realm of medical laboratory technology (MLT) training and education is unstructured in Pakistan. The primary challenge currently confronting the workforce in MLT is the absence of standardized curricula and assessments in education and training. This was an exploratory study aiming to inquire experiences of trainees, alumni and teaching coordinators regarding the technologist training program in a single institute at Pakistan.

Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan.

Objective: To evaluate the clinical, radiological, and biochemical features of glutaric aciduria Type 1 (GA1) patients identified through urine organic acid testing at a biochemical genetics laboratory (BGL) in Pakistan.

Study Design: Observational study. Place and Duration of the Study: Department of Pathology and Laboratory Medicine, The Aga Khan University Hospital, Karachi, Pakistan, from January 2013 to December 2022.

Insights from semi-structured interviews on integrating artificial intelligence in clinical chemistry laboratory practices.

Background: Artificial intelligence (AI) is gradually transforming the practises of healthcare providers. Over the last two decades, the advent of AI into numerous aspects of pathology has opened transformative possibilities in how we practise laboratory medicine. Objectives of this study were to explore how AI could impact the clinical practices of professionals working in Clinical Chemistry laboratories, while also identifying effective strategies in medical education to facilitate the required changes.

Developing and piloting an online course on osteoporosis using a multidisciplinary multi-institute approach- a cross-sectional qualitative study.

Introduction: Postgraduate medical trainees (PGs) in developing nations face various educational hurdles due to limited access to quality resources and training facilities. This study aimed to assess the effectiveness of e-learning, particularly Massive Open Online Courses (MOOCs), within postgraduate medical education. It involved the development of a customized online course focused on osteoporosis for PGs and an examination of their perspectives and preferences concerning online learning methods like Virtual Learning Environment (VLE) platforms.

Enhancing specimen collection skills for dried blood spots through an immersive virtual learning environment: a cross-sectional study.

Objective: The quality of dried blood spot (DBS) specimens impacts newborn screening (NBS) results, hence proper training is crucial for DBS specimen collection. To address this, a training module for Allied Health Professionals (AHPs) and nurses was created on Moodle, a virtual learning environment (VLE). The purpose of this research was to determine the feasibility and effectiveness of this module.

Emphasising the Need for a National Fragility Fracture Network for Pakistan (FFN-Pak).

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Assessing the knowledge, attitude and practice of osteoporosis among Pakistani women: A national social-media based survey.

Background: There are numerous risk factors for osteoporosis and understanding and recognizing these risk factors is critical when deciding whether to take preventive measures. It is critical to reduce the healthcare expenditure burden of the Pakistani population by raising awareness and implementing osteoporosis-preventable measures. This survey aims to assess the knowledge, attitudes, and practices (KAP) of Pakistani women as well as their misconceptions about osteoporosis.

Factors Associated With Awareness Of Literate Mothers About Newborn Screening: A Cross-Sectional Study From A Low-Middle-Income Country.

Objectives: To explore the awarenesslevel of literate mothersregarding newborn screening programmes, and to evaluate the associated factors.

Methods: The descriptive, cross-sectional study was conducted at the Section of Chemical Pathology, Department of Pathology andLaboratoryMedicine,AgaKhanUniversity,Karachi,fromJanuary toSeptember 2021, andcomprisedmothers aged 18 years or more. Data was collected using a structured questionnaire about newborn screening, and the subjects were compared in terms of age, residential background, education and parity.

Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.

Background: Biotinidase deficiency (BTD) is a rare autosomal recessive metabolic disease, which develops neurological symptoms because of the impaired biotin recycling. Pathogenic mutations on BTD gene cause BTD deficiency. The clinical features and mutation analysis of Pakistani children with BTD deficiency have rarely been described.

Prevalence of familial hypercholesterolemia in a country-wide laboratory network in Pakistan: 10-year data from 988, 306 patients.

Introduction: Familial hypercholesterolemia (FH) is a modifiable risk factor for premature coronary heart disease but is poorly diagnosed and treated. We leveraged a large laboratory network in Pakistan to study the prevalence, gender and geographic distribution of FH.

Methodology: Data were curated from the Aga Khan University Hospital clinical laboratories, which comprises of 289 laboratories and collection points spread over 94 districts.

Burden of ocular abnormalities in patients with beta thalassaemia: a cross-sectional study.

Introduction: In Pakistan, the reported carrier rate of thalassaemia is estimated to be 5%-8% with 5000 new patients diagnosed every year. Several known systemic complications of beta thalassaemia major have been studied, but no studies are conducted to assess ocular complications among these patients from our population.

Methods: It was a cross-sectional study design conducted at three private and public sector centres in Pakistan.

A framework for implementing best laboratory practices for non-integrated point of care tests in low resource settings.

The method we respond to pandemics is still inadequate for dealing with the point of care testing (POCT) requirements of the next large epidemic. The proposed framework highlights the importance of having defined policies and procedures in place for non-integrated POCT to protect patient safety. In the absence of a pathology laboratory, this paradigm may help in the supply of diagnostic services to low-resource centers.

GRADE-ADOLOPMENT of clinical practice guideline for postmenopausal osteoporosis management-a Pakistani context.

Unlabelled: Due to its high prevalence, we aimed to create postmenopausal osteoporosis clinical practice guideline via GRADE-ADOLOPMENT for Pakistan. We recommend a higher dose (2000-4000 IU) of vitamin D for osteoporotic patients who are old, have malabsorption, or are obese. The guideline will help standardize care provision and improve health care outcomes for osteoporosis.

Inappropriate supplementation of Vitamin D can result in toxicity: a crosssectional study of paediatrics population.

Objective: To evaluate children with suspected or definite hypervitaminosis D with respect to prevalence, clinical manifestations and pharmacological aspects.

Methods: The retrospective cross-sectional study was conducted at the Aga Khan University Hospital, Karachi, and comprised medical records from January 1 to December 31, 2018, of children aged <18 years with 25-hydroxyvitamin D levels >50ng/ml. Clinical and pharmacological data was retrieved.

Metabolomics of a neonatal cohort from the Alliance for Maternal and Newborn Health Improvement biorepository: Effect of preanalytical variables on reference intervals.

Background: The study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.

Methodology: DBS samples were collected within 48-72 hours of life. Samples were analyzed for biochemical markers on tandem mass spectrometer at the University of Iowa.

Need for Development and Validation of Sarcopenia Screening Tools in Pakistan.

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Assessing Third-Year Medical Students' Perspective on Point of Care Testing Boot Camp: From Bench to Bedside.

Background: Point-of-care testing (POCT), which is also known as bed side-testing, has been integrated into the healthcare system, offering faster results that can lead to improved patient outcomes. POCT was missing from the medical education curriculum in our institute.

Objectives: The primary objective of this study was to describe the development and introduce POCT training for medical students in a medical college in Pakistan.

Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting- A cross-sectional study.

Introduction: Plasma amino acids profiling can aid in the screening and diagnosis of aminoacidopathies. The goal of the current study was to analyze and report the metabolic profiles of plasma amino acid (PAA) and additionally to compare PAA-reference intervals (RI) from Pakistan with more countries utilizing Clinical Laboratory Integrated Reports (CLIR).

Methods: This was a cross sectional prospective single center study.

An Urgent Need for Local Guidelines to Address Phosphate Homeostasis in Children with Transfusion-dependent β-thalassemia Major.

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Spectrum of Cystic Fibrosis Conductance Regulator Gene Mutations Reported in Pakistani Descent Cystic Fibrosis Patients.

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This study aims to determine the genotypic and phenotypic spectrum of the CFTR gene mutations reported in the literature for Pakistani-origin CF patients. Databases were searched for such studies from 1947-2019 for sample size, method of diagnosis, and CFTR gene mutations.

Publication dynamics: what can be done to eliminate barriers to publishing full manuscripts by the postgraduate trainees of a low-middle income country?

Objectives: This study aimed to determine the publication rate of free paper abstracts presented by the postgraduate (PG) trainees and determine the reasons for non-publication. A mixed methods study was conducted. PG trainees presenting free papers at the at the Pakistan Society of Chemical Pathologist conferences from 2012 to 2018 were included.