Results 151 to 160 of about 691,603 (403)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello +7 more
wiley +1 more source
Macrophage‐derived MLKL in alcohol‐associated liver disease: Regulation of phagocytosis
Hepatology, EarlyView., 2022 EtOH causes leaky gut allowing bacteria and PAMPs into the liver, resulting in hepatic inflammation and injury. We demonstrate that LPS induces STAT1‐mediated expression and phosphorylation of MLKL in macrophages and identify a novel function that myeloid MLKL translocates to phagosomes and lysosomes and regulates phagocytosis, which contributes to the
Xiaoqin Wu +16 more
wiley +1 more source
ANTIMICROBIAL AGENTS IN THE PREVENTION OF DIETARY HEPATIC INJURY (NECROSIS, CIRRHOSIS) IN RATS [PDF]
, 1951 Paul György +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Hepatology, EarlyView., 2022 Abstract Background and Aims Reliable noninvasive biomarkers are an unmet clinical need for the diagnosis of NASH. This study investigates the diagnostic accuracy of the circulating triggering receptor expressed on myeloid cells 2 (plasma TREM2) as a biomarker for NASH in patients with NAFLD and elevated liver stiffness.
Vineesh Indira Chandran +17 more
wiley +1 more source
Gastroenterology Research and Practice, 2019 Objective. The diagnostic value of antinuclear antibodies (ANAs) including anti-gp210 and anti-sp100 for primary biliary cholangitis/cirrhosis (PBC) has been widely reported.
Qian Zhang +8 more
doaj +1 more source
Specimen of Cirrhosis of the Liver [PDF]
, 1914 Stanley Wyard, Humphry Rolleston
openalex +1 more source
Exonic Variation and Its Clinical Impact in 7221 Old Order Amish
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell +21 more
wiley +1 more source
Hepatology, 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