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[A case of 11β-hydroxylase deficiency complicated with bilateral adrenal myelolipoma].
Zhonghua Nei Ke Za Zhi
February 2025
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).
View Article and Find Full Text PDFGenotype-Phenotype Correlations of Nance-Horan Syndrome in Male and Female Carriers of a Novel Variant.
Genes (Basel)
January 2025
Ophthalmology Department, Federal University of São Paulo, São Paulo 04039-032, Brazil.
Background: Nance-Horan syndrome (NHS) is a rare, frequently underdiagnosed, X-linked disease caused by mutations in the NHS gene. In males, it causes bilateral dense pediatric cataracts, dental anomalies, and facial dysmorphisms. Females traditionally have a more subtle phenotype with discrete lens opacities as an isolated feature.
View Article and Find Full Text PDFInherited non-syndromic polydactyly in a Berber and Arabian-Berber horse family.
Equine Vet J
January 2025
Université de Lyon, VetAgro Sup, Marcy l'Etoile, France.
Background: Supernumerary digits, or polydactyly, have been described in various species including humans, wild and domestic animals. In horses, it represents the most common congenital limb malformation, which has only been described in isolated cases or nuclear families. Molecular aetiology has not been reported.
View Article and Find Full Text PDFNovel Syndrome With Congenital Thumb Aplasia, Epilepsy, Cognitive Impairment, and Myopathy: A Case Report.
Cureus
December 2024
Neurology, Neurology and Neurophysiology Center, Vienna, AUT.
The combination of thumb aplasia, epilepsy, cognitive impairment, skeletal deformities, and myopathy has not been previously reported. The patient is a 22-year-old man with congenital bilateral thumb aplasia, developmental delay, and cognitive impairment who suffered a first tonic-clonic seizure at the age of 16 and was treated with valproic acid (VPA). At the age of 22, lamotrigine was added due to seizure recurrences and absences.
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