A NOVEL DE NOVO LIKELY PATHOGENIC VARIANT OF WFS-1 GENE IN A PAKISTANI CHILD WITH NON-CLASSIC WFS-1 SPECTRUM DISORDER.

Abstract: Wolfram syndrome is a progressive neurodegenerative disorder caused by an alteration in the WFS-1 gene, located on chromosome 4p16.1 and is characterized by the acronym DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). WFS-1 gene encodes for a transmembrane protein termed Wolframin found in the membrane of the endoplasmic reticulum.

Discovering down's syndrome: An account from A low middle income country.

Objective: This study aims to establish the frequency of Down's syndrome which will enhance the knowledge of our local population as well to understand our genotypic patterns and variations.

Methods: Electronic Medical Records of inborn babies at the Department of Neonatology, Sheikh Saeed Memorial Campus of The Indus Hospital Karachi during the study period from 1 January 2021 to 31 December 2022 were retrieved. Chromosomal karyotyping was done for all babies with suspicious clinical features identified on routine new born examination by consultant neonatologists, trainee doctors and experienced nurses.

Addressing the Care Gap in Outborn Infants for Receipt of Antenatal Steroids.

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Pediatric Uropathogens and their Antimicrobial Susceptibility Pattern: Experience from an Impoverished District of Karachi, Pakistan.

Introduction: Urinary tract infection (UTI) is the most common infection of the pediatric age group. Several factors linked to higher prevalence include poor personal hygiene, improper sanitation, lower socioeconomic status, and malnourishment. In addition to having a worse quality of life, the 1.

Ineffective ventilation in a very low birth weight infant with H-type Tracheoesophageal Fistula with bilateral chemical pneumonitis. A lesson learned.

Tracheoesophageal fistula (TEF) with or without associated esophageal atresia (EA) in the neonate is challenging to diagnose and manage its complications like aspiration, respiratory distress, and other associated anomalies. To stabilize, ventilate and prepare for surgical correction, understanding the H-nature of disease and anticipation of problems and their management will improve survival. We present a newborn with tracheoesophageal fistula without atresia from resource-limited settings and lessons we learned from the case.

Heated and humidified high flow therapy (HHHFT) in extreme and very preterm neonates with respiratory distress syndrome (RDS): a retrospective cohort from a tertiary care setting in Pakistan.

Objective: To determine the role of heated humidified high flow therapy (HHHFT) as primary respiratory support in spontaneously breathing moderate-late, very and extreme preterm neonates with respiratory distress syndrome (RDS) at a tertiary care hospital from a developing country.

Design: Retrospective cohort study.

Setting: Neonatal intensive care unit of Indus Hospital and Health Network, Karachi, Pakistan.