Results 61 to 70 of about 84,845 (281)

Ultrasound assessment of hepatomegaly and metabolically-associated fatty liver disease among a sample of children: a pilot project

Frontiers in Pediatrics
IntroductionObesity in children is a global health crisis, with 46% of children in Puerto Rico classified as overweight or obese based on Body Mass Index.
Bárbara L. Riestra-Candelaria, Wilma Rodríguez-Mojica, Camille Vélez-Morell, Claudia Ramírez-Marcano, Ariana Alvarado-Castillo, Gabriel Camareno-Soto, Loida A. González-Rodríguez   +6 more
doaj   +1 more source

Clinical features of alcoholic hepatitis in latinos and caucasians: A single center experience. [PDF]

, 2017
AimTo study differences of presentation, management, and prognosis of alcoholic hepatitis in Latinos compared to Caucasians.MethodsWe retrospectively screened 876 charts of Caucasian and Latino patients who were evaluated at University of California ...
Durbin-Johnson, Blythe, Halsted, Charles H, Medici, Valentina, Pinon-Gutierrez, Rogelio   +3 more
core   +1 more source

Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non‐Finnish Patients

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cytosolic phosphoenoylpyruvate carboxykinase (PEPCK‐C) is an essential, rate‐limiting enzyme in the gluconeogenesis pathway. PEPCK‐C deficiency presents with hypoglycaemia, hyperlactataemia and hepatopathy, and was first reported in association with bi‐allelic PCK1 variants in 2014.
Isaac Bernhardt, Polona Le Quesne Stabej, Claire Hart, Mark De Hora, Sarah Hulley, Mark Anderson, Harry G. Leitch, Hugh Lemonde, Bryony Ryder, James Davison   +9 more
wiley   +1 more source

Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Young Man with Hepatomegaly: A Case of Glycogenic Hepatopathy

Case Reports in Hepatology, 2018
Glycogenic hepatopathy is a rare but potentially reversible condition characterized by hepatomegaly and elevated liver enzymes occurring in poorly controlled type 1 diabetes mellitus patients and often requires a liver biopsy to confirm the diagnosis. We
W. Abboud, S. Abdulla, Mohammed Al Zaabi, R. Moufarrej   +3 more
semanticscholar   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Mortality associated with avian reovirus infection in a free-living magpie (Pica pica) in Great Britain [PDF]

, 2015
Avian reoviruses (ARVs) cause a range of disease presentations in domestic, captive and free-living bird species. ARVs have been reported as a cause of significant disease and mortality in free-living corvid species in North America and continental ...
Cunningham, AA, Dastjerdi, A, Everest, D, Hicks, D, Horton, DL, Irvine, RM, Lawson, B, Núñez, A, Pocknell, A, Shah, S   +9 more
core   +1 more source

Lipoprotein Lipase Deficiency in an Infant With Chylomicronemia, Hepatomegaly, and Lipemia Retinalis

Global Pediatric Health, 2017
Lipoprotein lipase (LPL; EC 3.1.1.1.34) is a key enzyme needed for the hydrolysis of triacylglycerol in chylomicrons and very low density lipoproteins.1 LPL deficiency is a rare autosomal recessive disorder with a prevalence of ~1 in 1 000 000 in the ...
D. M. Vidanapathirana, T. Rodrigo, S. Waidyanatha, E. Jasinge, A. Hooper, J. Burnett   +5 more
semanticscholar   +1 more source

Features of the clinical course and approaches to the therapy of norovirus infection in children

Лечащий Врач, 2021
The frequency, nature and duration of extra-intestinal manifestations depending on the therapy in children with norovirus infection were studied. It was found that in norovirus infection in children, in addition to gastrointestinal symptoms, there are ...
R. V. Popova, T. A. Ruzhentsova
doaj  

Fish oil feeding reverses hepatomegaly and disrupted hepatic function due to the lack of FXR signaling.

Journal of Toxicological Sciences, 2017
Mice lacking farnesoid X receptor (FXR) are used as a model for nonalcoholic fatty liver disease because their livers exhibit hepatomegaly, hepatic steatosis, and hepatic inflammation.
M. Miyata, Kouhei Shinno, Tomoki Kinoshita, Yuichi Kinoshita, Yoshimasa Sugiura   +4 more
semanticscholar   +1 more source