Differences in Childhood Growth Parameters Between Patients With Somatic and Heritable Retinoblastoma.

Purpose: Little is known regarding differences in childhood growth between somatic and heritable retinoblastoma (Rb) populations. We aimed to compare childhood growth parameters between somatic and heritable Rb cohorts at birth and at time of diagnosis with Rb.

Methods: A multinational, longitudinal cohort study was conducted with patients from 11 centers in 10 countries who presented with treatment naïve Rb from January to December 2019.

Capacity building for pediatric neuro-oncology in Pakistan- a project by my child matters program of Foundation S.

Introduction: Initiated in June 2019, this collaborative effort involved 15 public and private sector hospitals in Pakistan. The primary objective was to enhance the capacity for pediatric neuro-oncology (PNO) care, supported by a My Child Matters/Foundation S grant.

Methods: We aimed to establish and operate Multidisciplinary Tumor Boards (MTBs) on a national scale, covering 76% of the population (185.

Wilms tumor in horseshoe kidney with extensive vascular thrombosis: A case report.

Introduction And Importance: Wilms tumor (WT), a prevalent pediatric renal malignancy (7 %), frequently intertwines with genitourinary anomalies. This unique report presents a case of WT combined with horseshoe Kidney and an extending atrial thrombus, emphasizing critical management considerations.

Case Presentation: A 3-year-old boy, experiencing flank pain and weight loss, manifested a WT linked to horseshoe Kidney, accompanied by an atrial thrombus.

Retinoblastoma in Asia: Clinical Presentation and Treatment Outcomes in 2112 Patients from 33 Countries.

Purpose: To describe the clinical presentation and treatment outcomes of children who received a diagnosis of retinoblastoma in 2017 throughout Asia.

Design: Multinational, prospective study including treatment-naïve patients in Asia who received a diagnosis of retinoblastoma in 2017 and were followed up thereafter.

Participants: A total of 2112 patients (2797 eyes) from 96 retinoblastoma treatment centers in 33 Asian countries.

High morbidity and mortality in children with untreated congenital deficiency of leptin or its receptor.

The long-term clinical outcomes of severe obesity due to leptin signaling deficiency are unknown. We carry out a retrospective cross-sectional investigation of a large cohort of children with leptin (LEP), LEP receptor (LEPR), or melanocortin 4 receptor (MC4R) deficiency (n = 145) to evaluate the progression of the disease. The affected individuals undergo physical, clinical, and metabolic evaluations.

Corticosterone Methyl Oxidase Type 1 (CMO1) Deficiency Due to CYP11B2 Mutation: Two Case Reports.

Aldosterone synthase deficiency (ASD) is a rare autosomal recessive condition due to an inactivating mutation in There are two types of ASD depending upon level of defect in aldosterone synthesis, corticosterone methyl oxidase type 1 (CMO 1) and type 2 (CMO 2) deficiency. We are reporting two cases of CMO 1 deficiency presented with failure to thrive. Both cases were born to consanguineous parents and presented at around 17 months and 15 months with complaints of repeated vomiting and failure to thrive.

Silver-Russell syndrome associated with type-I Chiari malformation. A case report.

Comprehensive medical evaluation is important for patients with SRS to identify associated medical conditions and provide timely interventions. Clinicians should remain vigilant for potential neurological manifestations in SRS patients.

Biallelic Mutations in P4HTM Cause Syndromic Obesity.

We previously demonstrated that 50% of children with obesity from consanguineous families from Pakistan carry pathogenic variants in known monogenic obesity genes. Here, we have discovered a novel monogenetic recessive form of severe childhood obesity using an in-house computational staged approach. The analysis included whole-exome sequencing data of 366 children with severe obesity, 1,000 individuals of the Pakistan Risk of Myocardial Infarction Study (PROMIS) study, and 200,000 participants of the UK Biobank to prioritize genes harboring rare homozygous variants with putative effect on human obesity.

Exome Sequencing Reveals Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma.

Autosomal recessive congenital hereditary endothelial dystrophy (CHED2) may be misdiagnosed as primary congenital glaucoma (PCG) due to similar clinical phenotypes during early infancy. In this study, we identified a family with CHED2, which was previously misdiagnosed as having PCG, and followed up for 9 years. Linkage analysis was first completed in eight PCG-affected families, followed by whole-exome sequencing (WES) in family PKGM3.

Secondary findings in a large Pakistani cohort tested with whole genome sequencing.

Studies on genomic secondary findings (SFs) are diverse in participants' characteristics, sequencing methods, and versions of the ACMG SF list. Based on whole genome sequencing and the version 3.1 of the ACMG SF list, we studied SFs in 863 individuals from five different regions in Pakistan.

Assessment of aflatoxin M exposure and associated determinants in children from Lahore, Pakistan.

Aflatoxins are potent carcinogenic and immunomodulatory mycotoxins, and exposure may lead to deleterious effects on human health. This study aimed to detect aflatoxin M (AFM) as biomarker of exposure and determine associated risk factors in children attending a specialized-childcare hospital in Lahore. Urine samples collected from 238 children (1-11 years) during winter (January-mid-March 2020) and hot-humid summer (August-September 2020) were tested for AFM presence using ELISA.

HIV skews the SARS-CoV-2 B cell response towards an extrafollicular maturation pathway.

Background: HIV infection dysregulates the B cell compartment, affecting memory B cell formation and the antibody response to infection and vaccination. Understanding the B cell response to SARS-CoV-2 in people living with HIV (PLWH) may explain the increased morbidity, reduced vaccine efficacy, reduced clearance, and intra-host evolution of SARS-CoV-2 observed in some HIV-1 coinfections.

Methods: We compared B cell responses to COVID-19 in PLWH and HIV negative (HIV-ve) patients in a cohort recruited in Durban, South Africa, during the first pandemic wave in July 2020 using detailed flow cytometry phenotyping of longitudinal samples with markers of B cell maturation, homing, and regulatory features.

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.

Cirrhosis is usually a late-onset and life-threatening disease characterized by fibrotic scarring and inflammation that disrupts liver architecture and function. While it is typically the result of alcoholism or hepatitis viral infection in adults, its etiology in infants is much less understood. In this study, we report 14 children from ten unrelated families presenting with a syndromic form of pediatric liver cirrhosis.

Trends in bacteriological spectrum and antibiotic susceptibility on blood culture in pediatric cardiac patients at a tertiary childcare health facility.

Objectives: To report trends in bacteriological spectrum and antibiotic susceptibility on blood culture in admitted pediatric cardiac patients at a Tertiary Childcare Health Facility.

Methods: This cross-sectional observational study was conducted at the Department of Pediatric Cardiology, The Children's Hospital and Institute of Child Health, Multan from January 2018 to December 2020. We included admitted children of both genders aged one day to 12 years and whose blood sample was sent for blood culture analysis.

Assessment of aflatoxin B-lysine adduct in children and its effect on child growth in Lahore, Pakistan.

Aflatoxin B is an important toxic food contaminant and there is very little information available about its exposure and effects on the health of the Pakistani population. Therefore, children ( = 238) aged 1-11 years were recruited in this study to estimate the levels of aflatoxin B-lysine adduct and to measure its adverse effects on growth. Blood samples were analyzed to detect AFB-lysine adducts through high-performance liquid chromatography.

Precocious puberty: The clinical profile and the etiological classification of children presented at a tertiary care children's hospital.

Objectives: To determine the clinical spectrum and underlying etiologies of children presented with precocious puberty at The Children's Hospital &The Institute of Child health, Lahore.

Methods: It is a retrospective review of all the children presented with precocious puberty over one year, from January 2015 to December 2015; at the department of Paediatric Endocrinology & Diabetes, The Children's Hospital & The Institute of Child Health, Lahore.

Results: Total 43 cases of precocious puberty (PP), with 26 females were reported in one year.

Burden of cardiovascular dysfunction and outcome among term newborns having birth asphyxia.

Objectives: To find out the burden of cardiovascular dysfunction and outcome among term newborns having birth asphyxia.

Methods: This prospective observational study was conducted at The Department of Neonatology, Children's Hospital and The Institute of Child Health, Multan from August 2020 to March 2021.A total of 171 term newborns having asphyxia were enrolled.

Effect of Fortified Human Milk on the Growth Parameters of Babies With Very Low Birth Weight.

Objective The objective of this study is to assess the effect of fortified human milk on growth parameters of very low birth-weight babies. Study place and duration This randomized controlled trial took place at the neonatal intensive care unit (NICU), Children's Hospital, and Institute of Child Health in Multan from the 1st of January 2020 to the 1st of July 2021. Material and methods In group I, 25ml human milk was fortified with a 1g human milk fortifier (HMF) sachet (1g of HMF gives 4kcal added to 25ml of human milk).

The role of maternal age & birth order on the development of unilateral and bilateral retinoblastoma: a multicentre study.

Background/objectives: Retinoblastoma is a common childhood intraocular malignancy, the bilateral form of which most commonly results from a de novo germline pathogenic variant in the RB1 gene. Both advanced maternal age and decreasing birth order are known to increase the risk of de novo germline pathogenic variants, while the influence of national wealth is understudied. This cohort study aimed to retrospectively observe whether these factors influence the ratio of bilateral retinoblastoma cases compared to unilateral retinoblastoma, thereby inferring an influence on the development of de novo germline pathogenic variants in RB1.

Molecular markers for the detection of pathogenic and food poisoning potential of methicillin resistant Staphylococcus aureus isolated from wounds of hospitalized patients.

Pathogenic strains of Staphylococcus aureus are mostly resistant to methicillin and they can cause severe infections. The current study was planned to assess the food poisoning potential of pathogenic, methicillin resistant Staphylococcus aureus by molecular detection of enterotoxin A (Eta) gene. A total of 100 septic wound samples from patients admitted in surgical ward (n=50) and burn unit (n=50) of Mayo Hospital Lahore were collected aseptically.

Persistent Pulmonary Hypertension of the Newborn: The Efficacy Comparison of Vasodilators Sildenafil Plus Bosentan Versus Sildenafil Plus Beraprost at a Tertiary Childcare Health Facility.

Background Persistent pulmonary hypertension of the newborn (PPHN) has been known for more than three decades, and lots of advancements have been made regarding its diagnosis and management. However, the exact causes of PPHN and the best treatment strategies remain debatable. This study aimed to compare the effectiveness of sildenafil and bosentan versus sildenafil and beraprost in the management of persistent pulmonary hypertension of the newborn (PPHN).

Idiopathic Granulomatous Mastitis: A Rare Confrontation.

Idiopathic granulomatous mastitis is a benign chronic inflammatory condition of the breast, the etiology of which has not been identified yet; it mimics two common breast disorders: breast carcinoma and tuberculous mastitis. Hence, this clinical entity poses difficulties in the diagnostic work-up. As clinical presentation and imaging findings often simulate other infectious and neoplastic etiologies, an accurate and early diagnosis is crucial to prevent misdiagnosis.