14 results match your criteria: "The University of Child Health Sciences[Affiliation]"

"Innovative multidisciplinary care in pediatric magnet aspiration: A case report".

Int J Surg Case Rep

January 2025

Department of Pediatric Surgery, The University of Child Health Sciences and The Children's Hospital, Lahore, Lahore - Kasur Rd, Nishtar Town, Lahore, Punjab, Pakistan 54000.

Introduction: Foreign body (FB) inhalation is a potentially life-threatening condition in children. Magnets, being rare, aspirated objects, pose significant threat due to their physical and magnetic properties.

Case Presentation: A 10-year-old girl with a history of magnet aspiration went into respiratory distress due to dislodgement of magnet to opposite main bronchus following failed attempt of removal via Rigid Bronchoscopy.

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Background And Objective: Cerebrospinal fluid (CSF) analysis is the gold standard for meningitis diagnosis. It is invasive, time-consuming, and can inoculate infection. CSF analysis is not appropriate for many children without significant clinical suspicion, and delaying decision-making can have negative consequences.

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Introduction & Importance: Teratomas, typically situated in midline areas like the sacrococcygeal region, may rarely manifest in the retroperitoneal region. Often asymptomatic and incidentally discovered, they can lead to complications such as infection, tumor rupture, or, exceptionally, peritonitis.

Case Presentation: In a 2-year-old child with a history of trauma, an atypical presentation of acute abdomen and peritonitis was observed.

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Article Synopsis
  • The text discusses a specific gene, bhlhe22, which plays a crucial role in retinal and brain development by encoding a transcription factor involved in neural differentiation.
  • Researchers identified eleven individuals from nine families with variants in this gene linked to a neurodevelopmental disorder characterized by speech limitations, severe motor impairments, intellectual disabilities, and other neurological symptoms, including agenesis of the corpus callosum.
  • Genetic analysis revealed that some individuals had harmful missense variants in a critical region of the gene, while others had a recurring frameshift mutation, suggesting that these genetic changes lead to severe cognitive and motor deficits associated with this newly recognized disorder.
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Objective: To analyse the outcome of laparoscopic nephrectomy among children.

Study Design: An observational study. Place and Duration of the Study: Department of Paediatric Urology, Children's Hospital Lahore, from September 2021 to June 2023.

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Article Synopsis
  • The study aimed to compare the effectiveness of modified combined trabeculotomy-trabeculectomy (CTT) with mitomycin-C (MMC) versus conventional CTT with MMC in reducing intraocular pressure (IOP) in patients with primary congenital glaucoma (PCG).
  • Conducted at The Institute of Ophthalmology, Lahore, from January 2018 to June 2019, the study included 70 patients aged 0 to 10 years, split into two groups for different surgical procedures.
  • Results showed that while both procedures reduced IOP, conventional CTT with MMC was more effective, achieving a success rate of 71.4% compared to 40% for modified CTT.
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Dissecting biological pathways highlighted by Mendelian gene discovery has provided critical insights into the pathogenesis of Parkinson's disease (PD) and neurodegeneration. This approach ultimately catalyzes the identification of potential biomarkers and therapeutic targets. Here, we identify as a new gene implicated in PD and childhood neurodegeneration.

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Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.

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Article Synopsis
  • Biallelic variants in the ZBTB11 gene are linked to a rare intellectual developmental disorder known as MRT69, which shows a variety of clinical symptoms.
  • The study focused on analyzing clinical and genetic traits of 29 individuals (ages 2-50) with these variants, finding diverse neurodevelopmental issues and complex movement disorders among the patients.
  • Results revealed that many patients had abnormal movements (like ataxia and dystonia) and cataracts, with one patient showing improvement from deep brain stimulation, contributing 13 new genetic variants to the understanding of ZBTB11-related disorders.
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Article Synopsis
  • Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are rare genetic conditions linked to pathogenic changes in GPI-AP genes, affecting multiple body systems and often presenting with severe neurological symptoms.
  • A study analyzed 83 individuals from 75 families with IGDs, revealing that core symptoms include developmental delays (90%), seizures (83%), and motor issues (64%), along with significant brain imaging findings like cerebral atrophy in 75% of cases.
  • The research highlights a wide range of phenotypic diversity, with no single dysmorphic feature being very common, and notes that individuals with certain genetic variants experience seizures earlier, indicating differences in prognosis based on genetic factors.
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Atypical Complications during the Course of COVID-19: A Comprehensive Review.

Medicina (Kaunas)

January 2024

Department of Clinical Pharmacy, College of Pharmacy, Jouf University, Sakaka 72388, Saudi Arabia.

COVID-19 is primarily a respiratory disease, but numerous studies have indicated the involvement of various organ systems during the course of illness. We conducted a comprehensive review of atypical complications of COVID-19 with their incidence range (IR) and their impact on hospitalization and mortality rates. We identified 97 studies, including 55 research articles and 42 case studies.

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Article Synopsis
  • Advances in molecular diagnostics have shown that certain genetic variants linked to neurodegenerative diseases can also cause severe neurodevelopmental disorders when inherited in a biallelic manner.* -
  • The study focuses on TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5), revealing a range of clinical symptoms across a cohort of 57 individuals, including severe flexion contractures, developmental delays, and various motor issues.* -
  • The research identified a phenotypic spectrum from mild symptoms to severe disabilities, with a notable survival rate of 71% and a median mortality age of 1.2 months, mainly due to complications like respiratory failure.*
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Hospital Acquired Pathogenic from Clinical and Hospital Water Samples of Quetta Balochistan.

J Trop Med

October 2022

Centre for Plant Sciences and Biodiversity, University of Swat, Charbagh, Swat 19120, Khyber Pakhtunkhwa, Pakistan.

A study was conducted to determine the prevalence and drug resistance of present in urinary tract infected patients and hospital drinking water. A total of eighty urine samples from clinically suspected patients and thirty tap water samples from hospital vicinity were collected and analyzed for the presence of . The isolates were preliminary identified based on morphological characteristics, biochemical test and further confirmed by polymerase chain reaction (PCR) using primer.

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Objectives: To determine the effects of donor and red blood cells concentrate characteristics on recipient hemoglobin increment following red blood cells transfusion in pediatric patients.

Methods: This cross-sectional study was conducted at The Hematology & Transfusion Medicine Department of The UCHS & The Children's Hospital, Lahore from 23 December 2020 to 31 July 2021 after Institutional Ethical committee approval. After taking informed consent from parents/guardians, One hundred recipients receiving RBCs unit transfusion studied along with the respective donors.

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