Results 101 to 110 of about 5,188,381 (253)

Wilson’s disease in pregnancy: case series and review of literature [PDF]

open access: yes, 2013
Background: Wilson’s disease is a rare, autosomal recessive inherited disorder characterized by impaired liver metabolism of copper leading to decreased biliary excretion and incorporation of ceruloplasmin levels mainly in the liver and brain.
Malik, Ayesha   +2 more
core  

IV. Wilson’s disease and Menkes disease

open access: yes, 1999
Copper is an essential transition metal that permits the facile transfer of electrons in a series of critical biochemical pathways. Menkes disease and Wilson’s disease are inherited disorders of copper metabolism resulting from the absence or ...
Mark Schaefer, Jonathan D. Gitlin
core   +1 more source

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

open access: yesAnnals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca   +24 more
wiley   +1 more source

Wilson’s Disease, Etiology and Treatment: Wilson disease

open access: yes
Background: Wilson’s disease is a chronic, gradually developed disease. Its concern is as an autosomal recessive inherited metabolic disorder. The deposition of copper in many organs, such as the liver, eyes, kidneys, and basal ganglia in the brain is ...
Rada, Feryal
core   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

open access: yesThe Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy   +3 more
wiley   +1 more source

Fatty liver disease is not associated with increased mortality in the elderly: A prospective cohort study

open access: yesHepatology, EarlyView., 2022
Graphical abstract summarizing the study design, main results and key findings Abstract Background and Aims Fatty liver disease (FLD) has been associated with excess mortality. Screening for hepatic steatosis (HS) in patients with metabolic dysfunction is therefore recommended by several guidelines, despite a paucity of evidence on the clinical ...
Laurens A. van Kleef   +5 more
wiley   +1 more source

Paleopathology of a putative colossosaurian caudal vertebra (Neosauropoda: Titanosauria) from the Presidente Prudente Formation, Brazil

open access: yesThe Anatomical Record, EarlyView.
Abstract Studies investigating paleopathologies in sauropods remain scarce despite their relative abundance in the fossil record. In this study we report new occurrence of paleopathological features, corresponding to a neoplasm found in a middle caudal vertebra (MCT.R.2120) of an advanced titanosaur from the Presidente Prudente Formation (Bauru Basin ...
Maria Luiza Peres Bertolossi   +5 more
wiley   +1 more source

Wilson’s disease presenting during pregnancy: A diagnostic and therapeutic dilemma

open access: yes, 2017
Wilson’s disease is an autosomal recessive genetic disorder affecting copper transport leading to hepatic and/or neuropsychiatric manifestations. Changes in pregnancy can mimic certain clinical features of chronic liver disease such as spider naevi, and
Esha R Shanbhag   +4 more
core   +1 more source

Human evolution and the obstetrical dilemma: The pelvic floor hypothesis

open access: yesThe Anatomical Record, EarlyView.
Abstract Human childbirth is mechanically difficult because a large‐headed, broad‐shouldered fetus must pass through a comparatively narrow, twisted bony birth canal. Traditional explanations of this “obstetrical dilemma” emphasize the role of bipedal locomotion in inhibiting the evolution of a wider, more spacious pelvis.
Barbara Fischer, Ekaterina Stansfield
wiley   +1 more source

Mitochondrial stress in advanced fibrosis and cirrhosis associated with chronic hepatitis B, chronic hepatitis C, or nonalcoholic steatohepatitis

open access: yesHepatology, EarlyView., 2022
Adaptive mitochondrial mechanisms allow mitochondrial resilience and prevent the worsening of fibrosis, while deregulation of these mechanisms promotes the progression from no/minimal‐mild (F0‐F2) fibrosis to advanced fibrosis and cirrhosis (F3‐F4). Abstract Background and Aims Hepatitis B virus (HBV) infection causes oxidative stress (OS) and alters ...
Dimitri Loureiro   +17 more
wiley   +1 more source

Home - About - Disclaimer - Privacy