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Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.
Glob Med Genet
December 2024
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, United States.
We report a 7-year-old girl born with pyloric atresia but without congenital epidermolysis bullosa or skin fragility. Nail dysplasia developed at age 8 months and throughout childhood she suffered from onycholysis and mild nail hypertrophy. Whole-exome sequencing demonstrated biallelic mutations in alpha6 integrin (ITGA6): p.
View Article and Find Full Text PDFInfantile Hypertrophic Pyloric Stenosis Without Metabolic Alkalosis: A Report of Two Cases.
Cureus
September 2024
Pediatrics, Dr. D.Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Article Synopsis
- Infantile hypertrophic pyloric stenosis (IHPS) is a condition in infants that causes the pylorus to thicken, resulting in gastric outlet obstruction and severe vomiting.
- This case series discusses two infants with IHPS who displayed metabolic acidosis, rather than the typical metabolic alkalosis usually seen in such cases.
- The presence of metabolic acidosis suggests there may be different underlying issues in these cases, indicating that diagnosing IHPS may require a more comprehensive approach.
Treatment outcome and associated factors of infantile hypertrophic pyloric stenosis at eastern Ethiopia public hospitals.
BMC Surg
September 2024
Department of Medicine, College of Medicine and Health Science, Jigjiga University, Jigjiga, Ethiopia.
Article Synopsis
- Infantile hypertrophic pyloric stenosis (IHPS) is a serious condition in babies where the stomach can't empty properly due to thickened muscles.
- This study looked at how well treatment works for IHPS in children and what factors affect their recovery.
- Results showed that a significant number of babies had poor recovery, especially if they waited too long for treatment, had dehydration, or low potassium levels.
Prepyloric gastric antral muscular ring in an infant.
Clin J Gastroenterol
October 2024
Department of Diagnostic Radiology, Stony Brook University Hospital, Stony Brook, NY, USA.
Article Synopsis
- The text discusses a rare case of a prepyloric gastric muscular ring, which differs from the more commonly documented gastric webs, highlighting a lack of literature on this condition.
- It notes that most known gastric outlet obstructions in neonates are attributed to pyloric stenosis, leading to a limited consideration of other conditions like muscular rings.
- The authors suggest that the term "gastric ring" should specify the muscular nature to avoid confusion with submucosal or mucosal types in medical discussions.
Diagnostic Value of Transabdominal Ultrasonography in Gastrointestinal Malignant Tumors.
Altern Ther Health Med
April 2024
Objective: To explore the application value of transabdominal ultrasonography in the diagnosis of gastrointestinal malignant tumors.
Methods: This study retrospectively analyzed the transabdominal ultrasound imaging data of 284 patients with gastrointestinal tumors admitted to our hospital from April 2019 to March 2022 and assessed the accuracy of transabdominal ultrasound in diagnosing different types of gastrointestinal tumor diseases. The diagnostic accuracy of transabdominal ultrasonography for TNM staging of gastrointestinal malignancies was calculated.
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