Results 91 to 100 of about 49,325 (314)

EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)

European Journal of Human Genetics, 2015
Molecular genetic testing for hereditary hemochromatosis (HH) is recognized as a reference test to confirm the diagnosis of suspected HH or to predict its risk.
G. Porto, P. Brissot, D. Swinkels, H. Zoller, O. Kamarainen, S. Patton, I. Alonso, M. Morris, S. Keeney   +8 more
semanticscholar   +1 more source

Trace Metal Contamination and Health Risk Assessment in Traditional Egyptian Soft Cheeses: A Food Safety Perspective

Food Safety and Health, EarlyView.
This study evaluates trace metal concentrations in traditional Egyptian soft cheeses and assesses associated health risks using chemometric and toxicological approaches. Findings confirm the safety of these cheeses, with all risk indices within acceptable limits, supporting the need for continued monitoring to ensure food quality and consumer ...
Hani S. Abdelmontaleb, Doha A. Abdelmeged, Shaima M. Hamdy, Warda M. A. Ebid   +3 more
wiley   +1 more source

Hereditary hemochromatosis: pathogenesis, symptoms, diagnosis and current treatment - literature review

Journal of Education, Health and Sport
Introduction: Hereditary hemochromatosis is the most common genetic disorder in Northern Europe. It involves an overload of iron in the tissues due to a deficiency of the protein hepcidin.
Dominika Prystacka-Szar, Natalia Rulewska, Filip Grabowski, Jakub Siemko, Dagmara Neska , Justyna Stadler-Szajda, Adrianna Czyżnikiewicz, Wenancjusz Stołowski, Magdalena Bujak, Magdalena Waśniowska   +9 more
doaj   +1 more source

Hemochromatosis and Heart Involvement

Архивъ внутренней медицины
Hemochromatosis is a life-threatening condition if left untreated, that is caused by excess iron in the body. It can be primary (hereditary) hemochromatosis, resulting from genes mutations, and secondary (acquired) as a result of excessive intake of iron
E. V. Reznik, M.H. E. Laouar, V. Yu. Voinova, G. N. Golukhov   +3 more
doaj   +1 more source

Identification of erythroferrone as an erythroid regulator of iron metabolism. [PDF]

, 2014
Recovery from blood loss requires a greatly enhanced supply of iron to support expanded erythropoiesis. After hemorrhage, suppression of the iron-regulatory hormone hepcidin allows increased iron absorption and mobilization from stores.
Ganz, Tomas, Jung, Grace, Kautz, Léon, Nemeth, Elizabeta, Rivella, Stefano, Valore, Erika V   +5 more
core   +1 more source

The SOD2 C47T polymorphism influences NAFLD fibrosis severity: evidence from case-control and intra-familial allele association studies. [PDF]

, 2011
AIMS: Non-alcoholic fatty liver disease (NAFLD) is a complex disease trait where genetic variations and environment interact to determine disease progression.
Al Serri, Ahmad, Anstee, Quentin M, Daly, Ann K, Day, Christopher P, Dongiovanni, Paola, Fargion, Silvia, Fracanzani, Anna, Leathart, Julian B S, Nobili, Valerio, Patch, Julia, Valenti, Luca   +10 more
core   +1 more source

New insights into applications of base editor in hereditary disorders

Interdisciplinary Medicine, EarlyView.
Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai, Linhui Zhang, Liqing Li, Yue Liu, Canbin Lv, Yan Shi, Jianyuan Zhao, Dingwei Ye, Yuanyuan Qu   +8 more
wiley   +1 more source

Pituitary hyposignal characteristic of hemochromatosis on MRI

Clinical Case Reports, 2023
Pituitary haemochromatosis is an endocrine disorder caused by the accumulation of iron due to a lack of absorption during haemochromatosis. The characteristic appearance on MRI is a T2 and T2* hyposignal of the anterior pituitary gland without ...
Romeo Thierry Yehouenou Tessi, Rita Koudouhonon Oze, Mustapha Outznit, Ihssan Hadj Hsain, Ittimade Nassar, Nabil Moatassim Billah   +5 more
doaj   +1 more source

Dysmetabolic Hyperferritinemia: All Iron Overload Is Not Hemochromatosis

Case Reports in Gastroenterology, 2015
Disturbances in iron metabolism can be genetic or acquired and accordingly manifest as primary or secondary iron overload state. Organ damage may result from iron overload and manifest clinically as cirrhosis, diabetes mellitus, arthritis, endocrine ...
Jasbir Makker, A. Hanif, B. Bajantri, S. Chilimuri   +3 more
semanticscholar   +1 more source

Association between high serum ferritin and periodontitis: A population‐based cross‐sectional preliminary study

Journal of Periodontology, EarlyView.
Abstract Background The aim of this study was to investigate the association between high serum ferritin levels and periodontitis considering pathways induced by sociodemographic and behavioral factors, serum inflammation, and metabolic risk. Methods Data from 7283 individuals who participated in the Third National Health and Nutrition Examination ...
Susilena Arouche Costa, Cecilia Cláudia Costa Ribeiro, Ana Regina Oliveira Moreira, Gustavo G. Nascimento, Soraia de Fátima Carvalho Souza   +4 more
wiley   +1 more source