Results 111 to 120 of about 49,325 (314)

A Rare Presentation of Transfusional Hemochromatosis: Hypogonadotropic Hypogonadism

Case Reports in Endocrinology, 2015
Hemochromatosis is a disease caused by extraordinary iron deposition in parenchymal cells leading to cellular damage and organ dysfunction. β-thalassemia major is one of the causes of secondary hemochromatosis due to regular transfusional treatment for ...
Rifki Ucler, Erdal Kara, Murat Atmaca, Sehmus Olmez, Murat Alay, Yaren Dirik, Aydin Bora   +6 more
doaj   +1 more source

The role of iron in normal and impaired testicular function

Andrology, EarlyView.
Abstract Iron plays a critical role in testicular physiology, impacting spermatogenesis, testosterone production, and overall testicular function. Iron homeostasis is maintained through systemic and cellular regulatory mechanisms, including hepcidin‐mediated systemic iron control and the iron‐responsive element/iron regulatory protein (IRE/IRP) system ...
Aileen Harrer, Esther G. Meyron‐Holtz, Andreas Meinhardt   +2 more
wiley   +1 more source

Emerging Trends in Patients Hospitalised With Cirrhosis—Aetiologies, Complications and Outcomes Compared to Other Chronic Health Conditions

Alimentary Pharmacology &Therapeutics, EarlyView.
Rates of inpatient mortality and complication rates in cirrhosis remain high. With regard to inpatient outcomes, cirrhosis is falling behind other chronic health conditions. ABSTRACT Background The aetiologies, complications and overall burden of cirrhosis have undergone changes in recent years.
Julian Pohl, Nirbaanjot Walia, Lukas Hofmann, Lena Wolters, Martin Schulz, Matthias Reinhardt, Brigitta Globke, Frank Tacke, Thomas Berg, Cornelius Engelmann   +9 more
wiley   +1 more source

Iron overload in hereditary spherocytosis: Are genetic factors the cause?

British Journal of Haematology, EarlyView.
Summary Non‐transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next‐generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association ...
Lucie Donaty, Muriel Giansily‐Blaizot, Ivan Bertchansky, Séverine Cunat, Vincent Azoury, Perrine Mahe, Patricia Aguilar Martinez   +6 more
wiley   +1 more source

Should the Children of Patients with Hemochromatosis be Screened for the Disease?

Canadian Journal of Gastroenterology, 1988
Idiopathic hemochromatosis is an underdiagnosed treatable condition inherited in an autosomal recessive pattern. Since early treatment is of demonstrated value, screening of high risk groups of individuals in a valuable exercise in preventive medicine ...
Donald G. MacIntosh, John C. Bear, John Simpson, Terry A. Komusi, William H. Marshall, James A. Barrowman   +5 more
doaj   +1 more source

Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health

Clinical Genetics, EarlyView.
In 325 exomes of South Brazilian Mennonites, we identified 23 pathogenic variants (P) and 27 likely P, with founder effects identified for 96% of P, whose frequencies differed from non‐Finnish Europeans, Amish, and Brazilian populations. ABSTRACT The Mennonite population has a unique history of 500 years of genetic isolation shaped by at least three ...
Luiza Beatriz Mayer de Lima, Eduardo Delabio Auer, Isabela Dall’Oglio Bucco, Valéria Bumiller‐Bini Hoch, Priscila Ianzen dos Santos, Fabiana L. Lopes, Alan Shuldiner, Emilton Lima Júnior, Angelica Beate Winter Boldt   +8 more
wiley   +1 more source

Non-HFE haemochromatosis [PDF]

, 2007
Non-HFE hereditary haemochromatosis (HH) refers to a genetically heterogeneous group of iron overload disorders that are unlinked to mutations in the HFE gene.
Subramaniam, V. Nathan, Wallace, Daniel F.   +1 more
core   +2 more sources

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Human Molecular Genetics, 2014
Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1).
I. Callebaut, R. Joubrel, S. Pissard, C. Kannengiesser, V. Gérolami, C. Ged, E. Cadet, F. Cartault, Chandran Ka, Isabelle Gourlaouen, Lenaick Gourhant, C. Oudin, M. Goossens, B. Grandchamp, H. de Verneuil, J. Rochette, C. Férec, G. Le Gac   +17 more
semanticscholar   +1 more source

Branched‐chain amino acids and all‐cause mortality in patients with liver cirrhosis, and the onset of diabetes in liver transplant recipients

European Journal of Clinical Investigation, EarlyView.
Our study demonstrates that total BCAA levels increase following liver transplantation. In patients with cirrhosis, higher total BCAA levels are associated with a reduced risk of all‐cause mortality. However, while this association is not observed in liver transplant recipients, elevated total BCAA levels are strongly linked to an increased risk of new‐
Yakun Li, Mateo Chvatal‐Medina, Maria Camila Trillos‐Almanza, Margery A. Connelly, Han Moshage, Stephan J. L. Bakker, Vincent E. de Meijer, Hans Blokzijl, Robin P. F. Dullaart, TransplantLines Investigators   +9 more
wiley   +1 more source

HLA-A and -B alleles and haplotypes in 240 index patients with common variable immunodeficiency and selective IgG subclass deficiency in central Alabama

BMC Medical Genetics, 2003
Background We wanted to quantify HLA-A and -B phenotype and haplotype frequencies in Alabama index patients with common variable immunodeficiency (CVID) and selective IgG subclass deficiency (IgGSD), and in control subjects.
Barton James C, Bertoli Luigi F, Acton Ronald T   +2 more
doaj   +1 more source