Infantile hypertrophic pyloric stenosis (IHPS) is a condition typically characterized by hypertrophy of the pylorus, leading to gastric outlet obstruction and forceful, nonbilious vomiting in young infants. This case series reports two infants with IHPS who exhibited metabolic acidosis, deviating from the classical biochemical presentation of hypochloremic, hypokalemic metabolic alkalosis. The unusual occurrence of metabolic acidosis in these cases suggests the possibility of alternative or additional pathophysiological mechanisms at play. Such deviations from the expected biochemical profile highlight the complexity of IHPS and the need for a broader diagnostic perspective.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11449378 | PMC |
http://dx.doi.org/10.7759/cureus.68548 | DOI Listing |
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.
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).
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 PDFJ Pediatr Surg
November 2024
Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam and Vrije Universiteit Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam UMC, Amsterdam Reproduction and Development Research Institute, University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands.
Annu Rev Med
November 2024
1Department of Biomedical Research and Translational Medicine, Masonic Medical Research Institute, Utica, New York, USA; email:
RASopathies are a group of clinically overlapping autosomal dominant disorders caused primarily by mutations in genes that reside along the canonical Ras-mitogen-activated protein kinase signaling cascade. Though individually rare, collectively, these disorders constitute one of the largest families of congenital disorders worldwide, particularly for infantile hypertrophic cardiomyopathy. Significantly, despite almost five decades of RASopathy research, therapeutic options remain limited and focused primarily on treating symptoms rather than disease etiology.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!