Results 91 to 100 of about 198,942 (291)

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

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

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

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

Non-HFE hemochromatosis

Revista Brasileira de Hematologia e Hemoterapia, 2012
Hereditary hemochromatosis (HH) is an autosomal recessive disorder classically related to HFE mutations. However, since 1996, it is known that HFE mutations explain about 80% of HH cases, with the remaining around 20% denominated non-HFE hemochromatosis.
Paulo Caleb Júnior de Lima Santos, Carla Luana Dinardo, Rodolfo Delfini Cançado, Isolmar Tadeu Schettert, José Eduardo Krieger, Alexandre Costa Pereira   +5 more
doaj   +1 more source

A Successful Living Donor Liver Transplantation Using Hepatic Iron Deposition Graft Suspected by Magnetic Resonance Imaging

Case Reports in Transplantation, 2023
Recently, magnetic resonance imaging (MRI) has been developed as a widely available and noninvasive method for detecting and evaluating hepatic iron overload.
Nobuhiko Kurata, Masato Shizuku, Kanta Jobara, Yoji Ishizu, Masatoshi Ishigami, Yasuhiro Ogura   +5 more
doaj   +1 more source

Genetic haemochromatosis: diagnosing and treating hereditary iron overload. [PDF]

, 2017
Genetic haemochromatosis (GH) is the most common inherited genetic disorder in caucasians, affecting approximately 1 in every 200–250 people. It leads to an increased absorption and deposition of iron, and if it is untreated it can cause systemic iron ...
Mortimore, Gerri
core   +1 more source

Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3.

ACS Chemical Biology, 2018
Hereditary hemochromatosis (HH) is one of the most common genetic disorders in Caucasian populations, with no viable therapeutic options except phlebotomy.
Sandeep Basu, Kanika Jalodia, Shashi Ranjan, J. Yeh, R. Peterson, Chetana Sachidanandan   +5 more
semanticscholar   +1 more source

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

Chronic hepatitis B complicated with secondary hemochromatosis was cured clinically: A case report

Open Medicine, 2023
Chronic hepatitis B (CHB) often causes iron overload in the liver but rarely causes severe secondary hemochromatosis (SH). A 48-year-old man was infected with CHB via vertical transmission. For 21 years, nonstandard treatment with second-line hepatitis B
Ye Yun, Xie Jing, Wang Lina, He Cong, Tan Youwen   +4 more
doaj   +1 more source