Complete transposition of the great arteries (TGA) is the most common cause of cyanosis in the first week of life. Prenatal diagnosis helps with counseling, planning delivery, and postnatal management for resource-rich health services. In a resource-limited setting, postnatal diagnosis is the norm. This work examines cases of complete TGA in one center in Cambodia without prenatal testing. Twenty-four cases were studied over 5 years. Complex TGA was frequently seen. The majority had normal coronary anatomy and arterial switch operation (ASO) was performed in most cases with a favorable outcome.
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http://dx.doi.org/10.1111/echo.15940 | DOI Listing |
Eur J Med Genet
December 2024
First Department of Neurology, First Affiliated Hospital of Kunming Medical University, Kunming 650000, China. Electronic address:
The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest report of a CHD3 gene mutation was by O'Roak, who found it during whole exome sequencing of 189 autism families in 2012. In 2018, Snijders Blok systematically assessed the autosomal dominant neurodevelopmental disorder caused by CHD3 gene damage, known as Snijders Blok-Campeau syndrome (SNIBCPS, OMIM 618205).
View Article and Find Full Text PDFPLoS One
December 2024
Department of Medical Imaging, The Affiliated Suzhou Hospital of Nanjing Medical University, Gusu School of Nanjing Medical University, Suzhou, Jiangsu, China.
Objective: To analytically depict the associated malformations of polysplenia syndrome (PS) in adults via computed tomography (CT).
Materials And Methods: The incidence of malformations associated with PS in twelve adult patients was retrospectively analyzed via CT imaging.
Results: The number of splenic nodules ranged from three to twelve; the splenic nodules were located in the left upper quadrant in nine patients and in the right upper quadrant in three patients.
Basic Clin Androl
December 2024
RECETOX, Faculty of Science, Masaryk University, Brno, Czech Republic.
Background: Primary ciliary dyskinesia (PCD) is a heterogenous disease caused by mutations of miscellaneous genes which physiologically play an important role in proper structure and/or function of various cellular cilia including sperm flagella. Besides male infertility, the typical phenotypes, based on decreased mucociliary clearance, are lifelong respiratory issues, i.e.
View Article and Find Full Text PDFEur J Vasc Endovasc Surg
December 2024
Division of Vascular Surgery, IRCCS San Raffaele Scientific Institute, Vita-Salute San Raffaele University, Milan, Italy.
JFMS Open Rep
December 2024
Southfields Veterinary Specialists (Part of Linnaeus Veterinary Limited), Basildon, UK.
Case Summary: A cat aged 12 years and 7 months was referred to a multidisciplinary hospital for investigation of feline injection site sarcoma (FISS) on the left thoracolumbar region. A CT examination of the mass revealed a multi-lobulated mass affecting the body wall, extending from the level of lumbar vertebrae L2 to L4. The mass was excised with 5 cm lateral margins, including resection of the 13th left rib, the caudal edge of the latissimus dorsi (LD) muscle, full-thickness abdominal wall and sections of the lumbar epaxial muscles.
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