Numerous large, thin-walled ectatic arteries up to 1 cm in diameter were encountered during operation on a 20-year-old patient. These vessels covered most of the right pleural surface. Similar symptomatic ectatic vessels were found arising from the left side and intracranially. Eight years later large arteriovenous malformations developed from chest wall and scar tissues that required ligations to control hemoptysis. This case was unique in that extensive multiorgan capillary and arterial systems were involved.
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http://dx.doi.org/10.1016/0003-4975(89)90396-2 | DOI Listing |
Ann Med
December 2025
Department of Basic Medical Sciences, College of Medicine & Center for Genetics and Inherited Diseases, Taibah University Medina, Medina, Saudi Arabia.
Background: Peroxisome biogenesis disorders (PBD) affect multiple organ systems. It is characterized by neurological dysfunction, hypotonia, ocular anomalies, craniofacial abnormalities, and absence of peroxisomes in fibroblasts. PBDs are associated with mutations in any of fourteen different genes, which are involved in peroxisome biogenesis.
View Article and Find Full Text PDFCureus
November 2024
Community and Family Medicine, All India Institute of Medical Sciences, Gorakhpur, IND.
Duodenal perforation often presents as an acute onset of abdominal pain and potential complications such as systemic infection, multiple organ system failure, and even death. It can result from various causes, including peptic ulcer disease (PUD), trauma, malignancies, and infections. Prompt diagnosis and timely intervention are critical for better outcomes, though mortality can be high, particularly in delayed cases.
View Article and Find Full Text PDFEur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Clinical Medicine, Aarhus University, Denmark.
KAT6A syndrome or Arboleda-Tham Syndrome (ARTHS; OMIM #616268) is a syndromic neurodevelopmental disorder mainly presenting with variable degrees of intellectual disability (ID) and developmental delay (DD), especially speech delay, hypotonia and autism spectrum disorders/behavioral problems. Multiple organ-systems including eyes, heart, gastrointestinal and neurological system can be involved. Other phenotypic features with a suggested association to KAT6A include immune dysfunction and pituitary anomalies.
View Article and Find Full Text PDFInfect Drug Resist
December 2024
Department of Clinical Laboratory, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, 510080, People's Republic of China.
Background: is one of the major pathogens in mucormycosis. Infection due to is rare and has a high mortality rate, especially disseminated mucormycosis infections. Rapid and accurate pathogen identification is important for the development of targeted antifungal therapies.
View Article and Find Full Text PDFJ Transl Med
December 2024
Department of Critical Care Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, People's Republic of China.
Introduction: Severe acute pancreatitis (SAP) is a crucial gastrointestinal disease characterized by systemic inflammatory responses and persistent multiple organ failure. The role of bile acids (BAs) in diverse inflammatory diseases is increasingly recognized as crucial, but the underlying role of BA conjugation remains elusive.
Objectives: Our study aim to investigate the potential role of conjugated bile acids in SAP and reveal the molecular mechanisms underlying its regulatory effects.
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