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Encountering the clinical complexity of type II Peters anomaly management approaches: a case report.
Pan Afr Med J
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Department of Ophthalmology, Faculty of Medicine Universitas Airlangga, Dr. Soetomo General Academic Hospital, Surabaya, Indonesia.
Anterior segment dysgenesis exerts its influence on a diverse array of ocular structures, encompassing the cornea, iris, ciliary body, anterior chamber and lens. We present a 20-month-old boy with bilateral corneal opacity. The visual acuity (VA) was 6/480 in both eyes.
View Article and Find Full Text PDFDelayed Diagnosis of a Bilateral Congenital Diaphragmatic Hernia in an Infant: A Rare Case Presentation.
Cureus
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Pediatric Surgery, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
We report the case of a four-month-old male infant diagnosed incidentally with bilateral congenital diaphragmatic hernias. Our patient was found to have chest asymmetry during an unrelated hospital visit and bilateral diaphragmatic defects were confirmed on cross-sectional imaging. Surgical repair of a right-sided Bochdalek hernia and a left-sided Morgagni hernia was performed with excellent outcomes.
View Article and Find Full Text PDFCopy Number Variant Does Not Influence Stroke Severity in 2 C57BL/6J Mouse Models nor in Humans: An Exploratory Study.
Stroke
January 2025
Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Germany (M.F., S.B., S.M., K.W., M.E., A.M., U.D., C.S.).
Background: Contrary to the common belief, the most commonly used laboratory C57BL/6J mouse inbred strain presents a distinctive genetic and phenotypic variability, and for several traits, the genotype-phenotype link remains still unknown. Recently, we characterized the most important stroke survival factor such as brain collateral plasticity in 2 brain ischemia C57BL/6J mouse models (bilateral common carotid artery stenosis and middle cerebral artery occlusion) and observed a Mendelian-like fashion of inheritance of the posterior communicating artery (PcomA) patency. Interestingly, a copy number variant (CNV) spanning locus was reported to segregate in an analogous Mendelian-like pattern in the C57BL/6J colonies of the Jackson Laboratory.
View Article and Find Full Text PDF[A case of 11β-hydroxylase deficiency complicated with bilateral adrenal myelolipoma].
Zhonghua Nei Ke Za Zhi
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Department of Endocrinology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou450003, China.
Electroencephalographic Features of Presumed Hepatic Encephalopathy in a Pediatric Dog with a Portosystemic Shunt-A Case Report.
Life (Basel)
January 2025
Neurology Service, Faculty of Veterinary Medicine, "Ion Ionescu de la Brad" Iași University of Life Sciences, 700489 Iași, Romania.
Hepatic encephalopathy (HE) in dogs is a metabolic disorder of the central nervous system that occurs secondarily to liver dysfunctions, whether due to acquired or congenital causes. A portosystemic shunt is the presence of abnormal communications between the hepatic vessels (portal and suprahepatic veins). As a result of this, the blood brought from the digestive tract through the portal vein bypasses the liver, and the unmetabolized components of the portal bloodstream enter directly into systemic circulation, causing clinical symptoms of metabolic encephalopathy (HE).
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