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.

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.

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.

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.

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.

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.

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.

Cervical Cystic Teratoma: An Unusual Cause of Airway Obstruction in the Pediatric Population.

Cystic teratoma is a germ cell tumor, which usually involves the gonads. However, it can be located occasionally in other organs. The most common extragonadal sites for germ cell tumors include midline structures such as the retroperitoneum, mediastinum, pineal body, and supra-sellar space.

The Effects of Breastfeeding on Retinoblastoma Development: Results from an International Multicenter Retinoblastoma Survey.

The protective effects of breastfeeding on various childhood malignancies have been established but an association has not yet been determined for retinoblastoma (RB). We aimed to further investigate the role of breastfeeding in the severity of nonhereditary RB development, assessing relationship to (1) age at diagnosis, (2) ocular prognosis, measured by International Intraocular RB Classification (IIRC) or Intraocular Classification of RB (ICRB) group and success of eye salvage, and (3) extraocular involvement. Analyses were performed on a global dataset subgroup of 344 RB patients whose legal guardian(s) consented to answer a neonatal questionnaire.

Phylogenetic diversity and mutational analysis of New Delhi Metallo-β-lactamase (NDM) producing strains from pediatric patients in Pakistan.

The evolution of NDM genes ( ) in is accounted for expansive multidrug resistance (MDR), causing severe infections and morbidities in the pediatric population. This study aimed to analyze the phylogeny and mutations in NDM variants of recovered from the pediatric population. Carbapenem-resistant clinical strains of were identified using microbiological phenotypic techniques.

Association of Blood Groups with the Severity and Outcome of COVID-19 Infection in Children.

The objective of this study was to find out the association of ABO blood groups with the severity and outcome of corona virus disease 2019 (COVID-19) in children. It included all laboratory-confirmed cases of COVID-19 and post-COVID multisystem inflammatory syndrome in children (MIS-C)/ Kawasaki disease (KD) like illness, admitted from March to September, 2020 to The Children's Hospital, Lahore. Out of 66 children, 45 (68.

Improvement in knowledge of healthcare professionals attending Neonatal Life Support (NeoLiS) training workshop.

Objective: To assess the improvement in knowledge of healthcare professionals after attending Neonatal Life Support training workshop.

Methods: The interventional study with secondary data was conducted in the Neonatology Department of the Children's Hospital and the Institute of Child Health, Lahore, Pakistan, using 2-year data of all the training workshops from 2017 to 2018. The participants were consultants, post-graduate residents, nurses, lady health visitors, lady health workers and rescue workers.

Autoimmune thyroid disease in children with diabetes and adolescents: A single center study from south Punjab.

Objective: To evaluate the prevalence of autoimmune thyroid disease in children with diabetes.

Methods: The descriptive cross-sectional study was conducted from January to December 2019 at the Children Hospital and the Institute of Child Health, Multan, Pakistan, and comprised paediatric type 1 diabetes mellitus patients of both genders. Blood samples were obtained for detailed testing of thyroid functions tests.

Spectrum of Electroencephalography Findings in Newly Diagnosed Epilepsy.

Background Epilepsy is a neurological disorder that presents with recurrent seizures associated with erratic brain activity which can be measured through EEG in addition to other neurological investigations. However, EEG may show abnormal patterns and waveforms while the patient is having a seizure which is crucial for making an accurate diagnosis. Objective This study aims to evaluate the spectrum of EEG findings in newly diagnosed epileptic patients as part of a neurological investigation.

Spectrum of Clinical Presentation of Celiac Disease in Pediatric Population.

Background Classic form of celiac disease (CCD) presents with diarrhea and is traditionally taught as malabsorption syndrome. This form of CD is diagnosed with ease but non-classical form presenting without diarrhea is often missed and heavily underdiagnosed. Objective To determine the clinical spectrum of patients with CD.

Distribution and antibiotic sensitivity pattern of Mycobacterium tuberculosis isolates from children, enrolled in a tertiary care hospital.

The present study was planned to assess the distribution of tuberculosis in children and evaluate the antimycobacterial sensitivity pattern of Mycobacterium tuberculosis (MTB) isolates from pediatric patients. A total number of 1718 pediatric patients suspected of Mycobacterium tuberculosis were enrolled in the Institute of Child Health and Children's Hospital, Lahore during 2016-17. Out of 1718, only 710 different types of samples were tested for MTB.

Is leukopenia and lymphopenia a characteristic feature of COVID-19 in children?

Objectives: To analyze whether leucopenia and lymphopenia a characteristic feature of children with COVID-19 and to find out its association with the disease severity.

Methods: This was a descriptive cross-sectional study conducted at The Children's Hospital Lahore from March 2020 to October 2020. All confirmed cases of COVID-19 infection and post-COVID MIS-C/Kawasaki Disease diagnosed on the basis of RT-PCR and Antibody test respectively were included.

Awareness of quantity of ORS and Zinc among mothers of under five children with diarrhoea at a tertiary care Centre Lahore.

Objective: To assess mothers' knowledge about the quantity of oral rehydration salt and zinc in the management of diarrhoea.

Methods: The cross-sectional study was conducted from May to August 2019 at The Children's Hospital, Lahore, Pakistan, and comprised mothers accompanying children aged <5 years admitted with diarrhoea complaints. Data was collected regarding demographics and mothers' awareness of signs of dehydration in diarrhoea, familiarity with the term oral rehydration salt, its correct preparation and administration and zinc supplementation.

Association of Blood Groups with the Severity and Outcome of COVID-19 Infection in Children.

The objective of this study was to find out the association of ABO blood groups with the severity and outcome of corona virus disease 2019 (COVID-19) in children. It included all laboratory-confirmed cases of COVID-19 and post-COVID multisystem inflammatory syndrome in children (MIS-C)/ Kawasaki disease (KD) like illness, admitted from March to September, 2020 to The Children's Hospital, Lahore. Out of 66 children, 45 (68.

Perspective of health professionals on hand hygiene in a tertiary care center in Pakistan.

Objective: To determine the awareness of postgraduate residents and nurses working in a tertiary care hospital about hand hygiene.

Methods: The cross-sectional study was conducted in October 2018 at The Children's Hospital and the Institute of Child Health, Lahore, Pakistan, and comprised postgraduate residents and nurses. Data was collected using a 31-item self-administered inventory.

Major histocompatibility complex class II polymorphic variants are associated with asthma predisposition in the Punjabi population of Lahore, Pakistan.

Introduction: Various genome wide association studies have manifested that Major Histocompatibility Complex (MHC) region on chromosome 6p21 houses many potential candidate genes for asthma.

Objective: This Case-Control association study was planned to determine the association of 10 Single Nucleotide Polymorphisms (SNPs), residing within and around MHC genes' region on chromosome 6p21, with Asthma in Punjabi population of Lahore, Pakistan.

Methods: A total of 161 subjects, 61 physician-diagnosed asthma patients and 100 age-matched healthy controls, were recruited from Lahore, a city in Punjab.

Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome).

Introduction: Mucopolysaccharidosis type II (MPS-II) or Hunter syndrome is a rare X-linked recessive disorder caused by genetic lesions in the IDS gene, encoding the iduronate-2-sulfatase (IDS) enzyme, disrupting the metabolism of certain sulfate components of the extracellular matrix. Thus, the undegraded components, also known as glycosaminoglycans, accumulate in multiple tissues resulting in multisystemic abnormalities.

Objective: To uncover causative genetic lesions in probands of three unrelated Pakistani families affected with rare X-linked recessive Hunter syndrome.