Optimizing Biotinidase Activity Assays: Insights From Clinical and Laboratory Evaluation From a Low-Middle Income Country.

Objective This study aimed to verify the methods used for biotinidase deficiency (BTD) assays, including fluorometric and colorimetric techniques, measure biotinidase (BT) activity in dried blood spots (DBS) and serum samples, and explore the clinical spectrum of patients with BTD based on low serum BT activity. Methods A cross-sectional study was conducted at the Newborn Screening Lab, Aga Khan University, Karachi, following ethical approval from August 2021 to December 2024. The study was conducted in three phases.

Establishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting.

The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management.

Factors associated with phosphate homeostasis in children with beta-thalassemia major: An analytical cross sectional study from Pakistan.

Introduction: Children with beta-thalassemia major (β-TM) commonly experience metabolic bone diseases. Understanding fibroblast growth factor 23 (FGF-23) levels in these children can shed light on phosphate dysregulation. This study aimed to assess changes in phosphate homeostasis and associated factors, including FGF-23 and explore relationships between iron overload, FGF23 levels, and phosphorus regulation for clinical management of phosphate disorders, in children with β-TM.

Unveiling the clinical spectrum: Exploring the role of anti-β2glycoprotein-1 antibodies (anti-β2GPI) in antiphospholipid syndrome suspects.

Objectives: The objectives of this study were to determine the prevalence of anti-β2glycoprotein-1 antibodies (anti-β2GPI) in Pakistani patients clinically suspected to have antiphospholipid syndrome (APS) and assess their association with clinical manifestations.

Introduction: The antiphospholipid syndrome (APS) is a complex disorder characterized by recurrent thrombotic and obstetric complications.

Methods: An analytical cross-sectional study was conducted at Aga Khan University Hospital from January to June 2022, after obtaining ethical approval (ERC ID: 2021-6404-19580).

Diagnostic Accuracy of Creatinine-Based Equations for eGFR Estimation in Pakistanis: Evaluation of the European Kidney Function Consortium Equation vs the CKD-EPI Pakistan Equation.

Introduction: Chronic Kidney Disease (CKD) is prevalent in Pakistan, necessitating accurate diagnostic methods. This study evaluates the CKD-EPI 2009, CKD-EPI 2021, CKD-EPI Pak, MDRD, and EKFC equations against creatinine clearance (CrCl) to determine their diagnostic accuracy for CKD in the Pakistani population.

Methods: n a retrospective cross-sectional study, data from 2,310 participants aged 18-70 were analyzed at The Aga Khan University in Karachi.

Adolopment of Recommendations for Standardized Reporting of Protein Electrophoresis in Pakistan.

Introduction: The standardization of reporting in clinical laboratories, particularly regarding Serum Protein Electrophoresis (SPEP) and Urine Protein Electrophoresis (UPEP), is crucial for effective communication of findings to clinicians and optimal patient management. However, in countries like Pakistan with limited healthcare resources and a prevalent self-payment model, challenges arise in achieving standardized reporting practices. This manuscript addresses the need for standardized guidelines for protein electrophoresis reporting in Pakistan, aiming to enhance laboratory practices and patient care.

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.

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.

Artificial Intelligence - Perception of Clinical Laboratories' Technical Staff a Nationwide Multicentre Survey in Pakistan.

Introduction: As Artificial Intelligence (AI) technology continues to assimilate into various industries, there is a huge scope in the healthcare industry specifically in clinical laboratories. The perspective of the laboratory professionals can give valuable insight on the ideal path to take for AI implementation.

Methods: The study utilized a cross-sectional survey design and was conducted at the section of Chemical Pathology, Department of Pathology and Laboratory Medicine, the Aga Khan University (AKU), Karachi, Pakistan in collaboration with Consultant Pathologists of 9 clinical laboratories associated with teaching hospitals across Pakistan from October-November 2023.

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.

Reporting Practices of Serum Protein Electrophoresis in Pakistan - a Multicenter Survey.

Background: Serum Protein Electrophoresis (SPE) is crucial for the diagnosis and follow-up of monoclonal gammopathy (MG), as it helps to separate and identify these paraproteins. Currently, Pakistan lacks standardized guidelines for SPE reporting and analytical performance. This survey aims to analyze reporting variations from Consultant Chemical Pathologists in Pakistani laboratories.

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.

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.

Indirect Reference Intervals of Serum Calcium in Pakistani Children Using KOSMIC, Bhattacharya, and Hoffman Approach.

Background: Reference intervals (RIs) of serum calcium vary based on age, population demographics, and methods of assessment. However, conventional approaches to establish serum calcium (Ca)RIs pose ethical and practical challenges, especially in the pediatric population. Hence, the use of indirect approaches is beneficial.

An Evaluation of the new 2021 Creatinine-Based Equation for Estimating Glomerular Filtration Rate (eGFR) in Pakistanis.

Background: The new eGFR equation without race coefficients was recently developed and published by the CKD-EPI Collaboration. The new equation termed CKD-EPI 2021 has been endorsed by the National Kidney Foundation and the American Society of Nephrology. It is important to understand the impact this new equation might have on clinical decision making in practice; hence, this study is planned to evaluate the CKD-EPI 2021 equation in Pakistani population.

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.

Interleukin-6 (IL-6) as a Predictor of Clinical Outcomes in Patients with COVID-19.

Background: Interleukin-6 (IL-6) has been known to be involved in immune regulation, inflammatory response, and metabolism. It is also recognized as the major cause to underscore the pathology of severe COVID-19 patients. However, it remains to be seen if IL-6 is superior to other inflammatory biomarkers in ascertaining clinical severity and mortality rate for COVID-19.