Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy. The disease is considered a paradigm for the sex-modified model of multifactorial inheritance and affects males four times more frequently than females. However, extended pedigrees consistent with autosomal dominant inheritance have been documented. We have analysed data from an extended IHPS family including eight affected individuals (five males and three females) and mapped the disease locus to chromosome 16q24 (LOD score=3.7) through an SNP-based genome wide scan. Fourteen additional multiplex pedigrees did not show evidence of linkage to this region, indicating locus heterogeneity.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/ejhg.2008.86 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study.
Mol Genet Metab Rep
March 2025
Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA.
Background: The current standard of care for infantile-onset Pompe disease (IOPD), a severe form of acid α-glucosidase enzyme activity deficiency is: (1) detection by newborn screening, (2) early initiation of intravenous enzyme replacement therapy (ERT) using recombinant human acid alpha-glucosidase (rhGAA), with higher doses of rhGAA increasingly used to improve clinical outcomes, and (3) immune tolerization induction (ITI) using to prevent anti-rhGAA antibody formation, with methotrexate (MTX), rituximab, and IVIG used for patients who are cross-reactive immunologic material negative (CRIM-) and monotherapy with MTX used in patients who are cross-reactive immunologic material positive (CRIM+).
Objectives/methods: A pilot study evaluates a dose-intensive therapy (DIT) using high-dose ERT (40 mg/kg/week) and more frequent exposure to ERT (i.e.
A rare pediatric case of type III congenital paraesophageal hiatal hernia with infantile hypertrophic pyloric stenosis: A case report.
Int J Surg Case Rep
January 2025
Department of Public Health and Infectious Diseases, Faculty of Medicine, Herat University, Herat, Afghanistan; Department of Epidemiology and Biostatistics, Schulich School of Medicine & Dentistry, Western University, London, ON, Canada.
Introduction: This case report presents a rare occurrence of Type III Congenital Paraesophageal Hiatal Hernia (CPEHH) with Infantile Hypertrophic Pyloric Stenosis (IHPS) in a 28-day-old neonate. However, this unusual combination poses significant diagnostic and surgical challenges.
Presentation Of Case: A 28-day-old male presented with respiratory distress and persistent vomiting.
Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.
Pediatr Int
December 2024
Medical Faculty, Department of Pediatric Metabolism and Nutrition, Ege University, Izmir, Türkiye.
Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.
Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.
The safety profile of azithromycin in pediatrics: a pharmacovigilance disproportionality analysis.
Expert Opin Drug Saf
December 2024
Department of Pharmacy, DaLi University First Affiliated Hospital, DaLi City, Yunnan Province, China.
Aim: To mine and analyze adverse drug events (ADEs) signals of azithromycin use in children in the real world to inform the safety assessment of azithromycin use in children.
Methods: ADE reports from the FDA Adverse Event Reporting System (FAERS) involving children (0-17 years) with azithromycin as the primary suspected drug from 2004 to early 2024 were extracted. ADEs were categorized using MedDRA, and signal detection was conducted using Reporting Odds Ratio (ROR) and Proportional Reporting Ratio (PRR).
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Cureus
November 2024
Rare Diseases, Rare Diseases Community (RDCom), Buenos Aires, ARG.
Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!