Results 41 to 50 of about 27,519 (222)

Novel mutation in ferroponin1 is associated with autosomal dominant hemochromatosis

, 2002
Hemochromatosis is a common disorder characterized by excess iron absorption and accumulation of iron in tissues. Usually hemochromatosis is inherited in an autosomal recessive pattern and is caused by mutations in the HFE gene.
Stephenson, Peter, Wallace, D.F., Subramaniam, V. Nathan, Stephenson, P., Searle, J.W., Dixon, Jeannette L., Powell, Lawrie W., Pedersen, P., Pedersen, Palle, Dixon, J.L., Powell, L.W., Wallace, Daniel F., Searle, Jeffrey W., Subramaniam, V.N.   +13 more
core   +1 more source

Asymptomatic hemochromatosis case with HFE c.1007−47G>A, c.340+4T>C heterozygous mutations and alpha globin −3.7 kb deletion

Egyptian Journal of Medical Human Genetics, 2018
Background: Hereditary hemochromatosis is a disease associated with iron deposition which is caused by the mutations in “hereditary Fe (iron)” (HFE) gene. Case: The 16-year-old male patient was diagnosed with hereditary hemochromatosis after c.1007−47G>A
Vesile Deniz Çelik, Betul Orhan Kiliç, Yasemin Ardiçoğlu Akişin, Fatma Ajlan Tükün, Nejat Akar   +4 more
doaj   +1 more source

HLA determinants in an Australian population of hemochromatosis patients and their families [PDF]

, 1989
The frequencies of different HLA-A and -B alleles in 77 Australian patients with hemochromatosis have been compared with frequencies of HLA alleles not associated with hemochromatosis in 63 of their heterozygous relatives and with published population ...
Tam, K S, Halliday, J W, Summers, K M, Powell, L W   +3 more
core  

A Late Presentation of a Fatal Disease: Juvenile Hemochromatosis

Case Reports in Medicine, 2013
Juvenile hemochromatosis is a rare and severe form of hereditary hemochromatosis. We report the case of a 39-year-old female who presented with heart failure and cirrhosis from previously unrecognized juvenile hemochromatosis.
Cynthia Cherfane, Pauline Lee, Leana Guerin, Kyle Brown   +3 more
doaj   +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

Juvenile Hemochromatosis: Rheumatic Manifestations of 2 Sisters Responding to Deferasirox Treatment. A Case Series and Literature Review

Open Access Rheumatology: Research and Reviews, 2021
Jubran Alqanatish,1– 3 Banan Alsowailmi,1 Haneen Alfarhan,1 Albandari Alhamzah,1 Talal Alharbi1,2,4 1King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Riyadh 14611, Saudi Arabia; 2King Abdullah International Medical Research Center (
Alqanatish J, Alsowailmi B, Alfarhan H, Alhamzah A, Alharbi T   +4 more
doaj  

Ultrasound Findings in Symptomatic HADD of the Hand and Wrist. A Case Series of 37 Patients

Journal of Clinical Ultrasound, EarlyView.
Ultrasound enables accurate diagnosis of hydroxyapatite deposition disease of the hand and wrist in patients with acute, non‐traumatic pain, typically in middle‐aged women. Characteristic calcifications, often in the resorptive phase, support diagnosis, while radiography may confirm findings without the need for advanced imaging.
Marco Becciolini, Riccardo Picasso, Antonio Corvino, Federico Zaottini   +3 more
wiley   +1 more source

Hemochromatosis Patients as Voluntary Blood Donors

Canadian Journal of Gastroenterology, 2004
The present study was designed to investigate hemochromatosis patients' suitability as blood donors as well as their perceptions and experience with the current public donation system.
Tara E Power, Paul C Adams
doaj   +1 more source

Idiopathic brain calcification in a patient with hereditary hemochromatosis

BMC Neurology, 2020
Background Detection of brain-MRI T2/T2* gradient echo images (T2*GRE)-hypointensity can be compatible with iron accumulation and leads to a differential diagnosis work-up including neurodegeneration with brain iron accumulation (NBIA) and Wilson Disease.
Stefania Scarlini, Francesco Cavallieri, Massimo Fiorini, Elisa Menozzi, Francesca Ferrara, Francesca Cavalleri, Chiara Reale, Barbara Garavaglia, Antonello Pietrangelo, Franco Valzania, Elena Corradini   +10 more
doaj   +1 more source

Probiotics and intestinal permeability in adults with metabolic dysfunction‐associated steatohepatitis: A secondary analysis of a randomized clinical trial

Journal of Parenteral and Enteral Nutrition, EarlyView.
Abstract Background Metabolic dysfunction‐associated steatohepatitis (MASH) is associated with altered intestinal permeability, allowing microbial products to translocate to the liver via the enterohepatic circulation and contributes to disease progression. The aim of our study was to evaluate the association between probiotic supplementation and serum
Bruna Concheski de Moura, Samanta Catherine Ferreira, Amanda Souza Silva‐Sperb, Helena Abadie Moraes, Larisse Longo, Carolina Uribe‐Cruz, Matheus Truccolo Michalczuk, Themis Reverbel da Silveira, Carlos Thadeu Schmidt Cerski, Mário Reis Álvares da Silva, Valesca Dall'Alba   +10 more
wiley   +1 more source