During exploratory laparotomy of a foal with colic, a congenital abnormally developed large colon was identified incidentally. Long-term follow-up showed that the colt was more prone to gas-colic with diet and exercise changes than were other horses, due possibly to the short colon.
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Ecotoxicol Environ Saf
January 2025
Department of Pediatric Surgery, Affiliated Hospital of Zunyi Medical University, Zunyi, Guizhou 563000, China; Department of Pediatric Surgery, Guizhou Children Hospital, Zunyi, Guizhou 563000, China. Electronic address:
Nonylphenol (NP), a ubiquitous environmental contaminant used as a surfactant in industrial production and classified as an endocrine disruptor, could interfere hormone secretion and exhibit neurotoxicity in organisms. Hirschsprung's disease (HSCR), one of the most frequently observed congenital malformations of the digestive system, arises mainly due to the failure of enteric neural crest cells to migrate to the distal colon during embryonic development. However, the effects of NP exposure on HSCR are largely unknown.
View Article and Find Full Text PDFJ 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 PDFJ 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 PDFGenes (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 PDFBMJ 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.
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