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Simpson-Golabi-Behmel syndrome type 1 in a neonate with central hepatoblastoma.
BMJ Case Rep
January 2025
Division of Neonatology, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
We report a neonate evaluated for hepatomegaly during hospitalisation and was diagnosed to have hepatoblastoma, an uncommon childhood malignancy. The presence of dysmorphism, macrosomia and congenital heart defect led to the suspicion of congenital overgrowth conditions. The genetic evaluation revealed a pathogenic variant, conclusive of Simpson-Golabi-Behmel syndrome type 1 (SGBS1).
View Article and Find Full Text PDFElectroencephalographic 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 PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFIntrahepatic portosystemic shunt: salvage mechanism for oligohydramnios complicating fetal growth restriction.
Ultrasound Obstet Gynecol
January 2025
Ultrasound Unit, Helen Schneider Hospital for Women, Rabin Medical Center, Beilinson Hospital, Petach Tikva, Israel.
Objective: Portosystemic shunts in growth-restricted fetuses are more common than previously thought. We aimed to describe fetuses with growth restriction and transient oligohydramnios in which a congenital intrahepatic portosystemic shunt (CIPSS) was noted during follow-up.
Methods: This was a retrospective study of all fetuses diagnosed with growth restriction and transient oligohydramnios during a 5-year period in a large tertiary referral center.
Plasma amino acid profiles of dogs with the hepatocutaneous syndrome and dogs with other chronic liver diseases.
J Vet Intern Med
January 2025
Cummings School of Veterinary Medicine at Tufts University, North Grafton, Massachusetts, USA.
Background: Dogs with hepatocutaneous syndrome (HCS) have marked plasma hypoaminoacidemia, but its occurrence in dogs with chronic liver diseases not associated with HCS (non-HCS CLD) is unknown.
Objectives: To determine if plasma hypoaminoacidemia occurs in dogs with non-HCS CLD, compare plasma amino acid (PAA) profiles between dogs with non-HCS CLD and HCS, and define a sensitive and specific PAA pattern for diagnosing HCS.
Animals: Data were collected from client-owned dogs, a prospective cohort of 32 with CLD and 1 with HCS, and a retrospective cohort of 7 with HCS.
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