Results 81 to 90 of about 47,935 (263)

A standard blood bank donation improves cardiometabolic health of donors: A double‐blind randomised controlled trial

British Journal of Haematology, EarlyView.
The upper panel illustrates the study design, including recruitment, randomisation, intervention and oral glucose tolerance tests (OGTTs) conducted 2 weeks before and after. The lower panel shows reductions in serum ferritin associated with lower 2‐h OGTT glucose and lower glucose area under the curve (AUC).
Diego Mora‐Gonzalez, Alfonso Moreno‐Cabañas, Lucía Gonzalez García, Ana Isabel Cobo‐Cuenca, Maria del Carmen Muñoz‐Turrillas, Ricardo Mora‐Rodriguez, Felix Morales‐Palomo   +6 more
wiley   +1 more source

Expanding Access to Genome Sequencing: Higher Diagnostic Yield in Self‐Referred Participants From the CincyKidsSeq Study and Implications for Hybrid Models of Genetic Service Delivery

Clinical Genetics, EarlyView.
Genome sequencing helped find answers for 1 in 5 children with rare conditions in an outpatient study looking at hybrid genetic care delivery. Families who chose testing themselves had the highest diagnostic yield, showing that self‐referral may be a helpful way to improve access to genetic care.
Kristin Theobald, Amelle Shillington, Farrah Jackson, Jaime Lopes, Casey J. Brewer, Brian Dawson, Gang Wu, James Denton, Mike Pauciulo, Xue Zhang, Anne Slavotinek   +10 more
wiley   +1 more source

The Development of Hemochromatosis after Treatment for Celiac Sprue

Canadian Journal of Gastroenterology, 1994
Celiac sprue is a chronic disease characterized by maldigestion and malabsorption. Whereas many diseases have been reported in association with celiac sprue, hemochromatosis has not.
Mang Ma, Edmond A Ryan, Vincent G Bain
doaj   +1 more source

Lafora Disease Masquerading as Hepatic Dysfunction [PDF]

, 2018
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A., Ali, Nouman Safdar, Ilyas, Ghulam, Inayat, Faisal, Khan, Zarak H., Lodhi, Hanan T., Ullah, Waqas   +6 more
core   +1 more source

Heritability of serum iron, ferritin and transferrin saturation in a genetically isolated population, the Erasmus Rucphen Family (ERF) study [PDF]

, 2006
Background: Iron has been implicated in the pathogenesis of various disorders. Mutations in the HFE gene are associated with an increase in serum iron parameters.
Alizadeh, B.Z. (Behrooz), Aulchenko, Y.S. (Yurii), Duijn, C.M. (Cornelia) van, Njajou, O.T. (Omer), Oostra, B.A. (Ben), Pols, H.A.P. (Huib), Swinkels, D.W. (Dorine), Zillikens, M.C. (Carola)   +7 more
core   +4 more sources

Steatotic Liver Disease: A Key Related Risk Factor in the Emergence of Metabolic Syndrome‐Related Disorders

Hepatology Research, EarlyView.
It is speculated that the onset of obesity‐related diseases follows the sequence of obesity → SLD → MetS‐related diseases. In this study, the contribution of SLD to each MetS‐related disease was large for T2D and hypertension and SLD contributed to the onset and new onset of the disease by the 7‐year follow‐up.
Yoshihiro Kamada, Makoto Fujii, Hitoshi Nishizawa, Shiro Fukuda, Makoto Yamada, Iichiro Shimomura, Eiji Miyoshi   +6 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

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

Analysis of Human Spleen Contamination [PDF]

, 2007
Besides carbon, oxygen and nitrogen, numerous other elements and their compounds are significant in the body of humans and other animals. Accumulation of some elements and their compounds is recognized by clinical and biochemical evaluation. The physical-
Jan Jakubovsky, Martin Kopani, Martin Weis   +2 more
core   +2 more sources

Global consensus on the management of melanin hyperpigmentation disorders

Journal of the European Academy of Dermatology and Venereology, EarlyView.
A global Delphi consensus of 10 dermatology experts established evidence‐based recommendations for melanin hyperpigmentation disorders, providing unified classification, photoprotection guidance and treatment algorithms. This framework harmonizes terminology and supports individualized management across diverse skin types and health systems.
Thierry Passeron, Seemal R. Desai, Marwa Abdallah, Firas Al‐Niaimi, Ncoza Dlova, Pearl E. Grimes, Jorge Ocampo‐Candiani, Rashmi Sarkar, Leihong Flora Xiang, Helio Amante Miot   +9 more
wiley   +1 more source