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Retrospective detection of ITGB7 gene mutation in a Holstein calf with chronic diarrhea that was suspected of hereditary cholesterol deficiency.
J Vet Med Sci
January 2025
Department of Veterinary Science, Obihiro University of Agriculture and Veterinary Medicine.
A homozygous individual for ITGB7 gene mutation, an autosomal recessive congenital disorder in Holstein cattle, was retrospectively identified by genotyping of 195 stored blood from patients less than 12 months of age. Other 24 patients (12.3%) showed heterozygous.
View Article and Find Full Text PDFPersistent ascending mesocolon: an unexpected content in a giant and complex paraumbilical hernia of a 48-year-old obese woman.
J Surg Case Rep
January 2025
Department of Surgery, School of Medical Sciences, Kwame Nkrumah University of Science and Technology, P.O. Box Up 1279, Kumasi, Ghana.
Persistent ascending mesocolon (PAM) is a rare congenital anomaly in ⁓2%-4% of individuals. PAM is associated with various complications, including volvulus of the colon and caecum, bowel perforation, intestinal obstruction, and adhesions. This case is reported on a 48-year-old woman who reported to the Ho Teaching Hospital specialist clinic with a 13-year history of initial painless and reducible paraumbilical swelling.
View Article and Find Full Text PDFMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFPrecocious puberty: the unlikely herald of Familial adenomatous polyposis in a young girl.
BMJ Case Rep
January 2025
Endocrinology, Government Medical College Thiruvananthapuram, Thiruvananthapuram, Kerala, India.
We describe the case of a girl in her middle childhood who presented with signs of heterosexual precocious puberty in the form of axillary and pubic hair growth, acne and clitoromegaly. Investigations showed elevated androgens and autonomous cortisol excess, suggesting an adrenal source. CT imaging confirmed a left adrenal mass and multiple colonic polyps.
View Article and Find Full Text PDFSLC26A3 (DRA, the Congenital Chloride Diarrhea Gene): A Novel Therapeutic Target for Diarrheal Diseases.
Cell Mol Gastroenterol Hepatol
December 2024
- Division of Gastroenterology and Hepatology, Department of Medicine, University of Illinois, Chicago, IL, USA; - Jesse Brown VA Medical Center, Chicago, IL, USA. Electronic address:
Diarrhea associated with enteric infections, gut inflammation, and genetic defects poses a major health burden and results in significant morbidity and mortality. Impaired fluid and electrolyte absorption and/or secretion in the intestine are the hallmark of diarrhea. Electroneutral NaCl absorption in the mammalian GI tract involves the coupling of Na/H and Cl/HCO exchangers.
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