Results 71 to 80 of about 9,398 (186)

Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]

open access: yes, 2012
Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core   +1 more source

Secondary Erythrocytosis Among Type 2 Diabetes Mellitus Patients With Hypogonadism Using Sodium‐Glucose Cotransporter 2 Inhibitors and Testosterone Replacement Therapy

open access: yesEndocrinology, Diabetes &Metabolism, Volume 8, Issue 4, July 2025.
Given the frequent association between T2DM and the wide availability and administration of SGLT‐2i as a novel anti‐diabetic class on the one hand and hypogonadism with TRT on the other, concurrent administration may precipitate secondary erythrocytosis.
Maharan Kabha   +5 more
wiley   +1 more source

Conformational lock and thermal inactivation kinetics of Euphorbia amine oxidase [PDF]

open access: yes
The kinetics of thermal inactivation of copper-containing amine oxidase from euphorbia latex (ELAO) were studied in a 100-mM sodium phosphate buffer, pH 7, using cadavarine as the substrate.
امانی, مجتبی   +6 more
core  

Adolescents' and young adults' reactions to and perceived utility of carrier screening results in the context of a genomic research study

open access: yesJournal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Although guidelines have historically recommended deferring decisions about learning genomic information for conditions not actionable in childhood until adulthood, youth have increasing access to personal genomic information through research, clinical, and direct‐to‐consumer testing. However, little is known about young people's reactions to,
Haley N. Grimes   +5 more
wiley   +1 more source

Bases moleculares de hemoglobinopatias na Argentina [PDF]

open access: yes, 2017
Durante el desarrollo de un individuo se expresan distintas cadenas de globina de tipo α y no-α, que se combinan en tetrámeros para formar hemoglobina. Los genes que las codifican se organizan en familias.
Scheps, Karen, Varela, Viviana
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Sickle Cell Disease in Africa: SickleInAfrica Registry in Ghana, Nigeria and Tanzania

open access: yeseJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT Introduction Sickle cell disease (SCD) is most prevalent in Sub‐Saharan Africa (SSA), where incomplete patient profiles and limited management strategies hinder research and healthcare standards. Methods We describe the first large‐scale and multinational assessment of 13,403 SCD patients enrolled from 2017–2021 across 31 facilities in Ghana ...
Jack Morrice   +23 more
wiley   +1 more source

Optimisation of the Danish national haemoglobinopathy screening programme – A prospective intervention study

open access: yeseJHaem, Volume 6, Issue 3, June 2025.
Abstract Introduction The Danish national haemoglobinopathy screening programme offers screening to at‐risk pregnant women. Despite efforts to increase awareness of the screening programme, most women in the target population remain unscreened. In contrast, > 90% of pregnant women in Denmark attend a screening for chromosomal abnormalities by combined ...
Esther Agnethe Ejskjær Gravholt   +6 more
wiley   +1 more source

Depression Screening and Primary Care Engagement and Their Association With Socioeconomic Disadvantage Among Adolescents Aged 13–17 Years With Sickle Cell Disease

open access: yesPediatric Blood &Cancer, Volume 72, Issue 6, June 2025.
ABSTRACT It is unclear if adolescents with sickle cell disease (SCD) are screened for depression, since primary care provider (PCP) visits decline with age and socioeconomic disadvantage may impact receipt of care. This 1‐year study identified 97% of adolescents with SCD at Nationwide Children's Hospital (NCH) had a PCP. Among those with an NCH PCP (n =
Anyssa Young   +3 more
wiley   +1 more source

Comparing Comorbidity Indices to Predict Survival After Pediatric Hematopoietic Stem Cell Transplantation for Nonmalignant Disease

open access: yesPediatric Blood &Cancer, Volume 72, Issue 6, June 2025.
ABSTRACT Background Hematopoietic stem cell transplantation (HCT) is a potentially curative treatment for children with hematological or immunological disorders. However, treatment‐related morbidity and mortality remain concerning. Various comorbidity indices are currently used to assess the risk of complications following pediatric HCT.
Roos Lotte Alexandra Bukman   +4 more
wiley   +1 more source

Análise do polimorfismo TA6/TA7 na região promotora do gene UGT1A1, em pacientes com anemia e traço falciforme de dois hospitais da cidade de Porto Alegre – RS [PDF]

open access: yes, 2011
A doença de células falciformes é uma anemia hemolítica crônica de caráter autossômico recessivo, causada por uma mutação pontual no cromossomo 11. Esta mutação provoca a substituição de um ácido glutâmico por uma valina na posição seis da cadeia da ...
Antunes, Liana
core  

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