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Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation.
Cureus
December 2024
Obstetrics and Gynecology, Latifa Hospital, Dubai, ARE.
Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation.
View Article and Find Full Text PDFCausal Relationships Between Leukocyte Subsets and Adverse Fetal Outcomes: A Mendelian Randomization Study.
Mediators Inflamm
January 2025
Department of Bioinformatics, School of Basic Medical Sciences, Chongqing Medical University, Chongqing 400016, China.
The tolerance and dynamic regulation of the maternal immune system during pregnancy are pivotal for ensuring fetal health. Immune cell subsets play a complex and crucial role in this process, closely linked to the neonatal health status. Despite recognizing the significance of dysregulation in the quantity and activity of immune cells in neonatal disease occurrence, their specific roles remain elusive, resulting in a dearth of clinically viable interventions for immune-mediated neonatal diseases.
View Article and Find Full Text PDFLeptospirosis Causing Severe Acute Kidney Injury, Hyperbilirubinemia, and Thrombocytopenia: A Case Report.
Cureus
November 2024
Internal Medicine, Corewell Health, Royal Oak, USA.
Leptospirosis, an infection caused by the spirochete Leptospira and commonly attributed to the underdeveloped world, is frequently under-diagnosed in the United States. This report discusses the case of a 79-year-old male with no significant medical history who presented to the ED with recurrent falls. Initial laboratory results demonstrated severe acute kidney injury, hyperbilirubinemia, and thrombocytopenia.
View Article and Find Full Text PDFPrognostic Factors in 26 Cats Undergoing Surgery for Extra-Hepatic Biliary Obstruction.
Vet Sci
November 2024
CityU VMC, Sham Shui Po, Kowloon, Hong Kong SAR, China.
Surgical management of feline extra-hepatic biliary obstruction (EHBO) has poor survival rates with few prognostic factors reported in the literature. The etiology and clinical findings of feline EHBO and their influence on short-(2 weeks-6 months) and long-term (>6 months) survival and prognosis were examined in an observational clinical retrospective study of 26 client-owned cats undergoing surgery for biliary obstruction at one institution between 2012 and 2020. The etiology of EHBO was determined in 21/26 cats, which included inflammatory causes (14/21), neoplastic causes (6/21), and a duodenal foreign body (1/21).
View Article and Find Full Text PDFA Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review.
Cureus
November 2024
Department of Gastroenterology, Topiwala National Medical College & BYL Nair Charitable Hospital, Mumbai, IND.
A 12-year-old female, resident of western India, presented with a history of pruritus associated with jaundice for two months. On presentation, she had icterus with mild palpable hepatomegaly. Investigations revealed direct hyperbilirubinemia and elevated transaminases, while gamma-glutamyl transferase levels were normal.
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