Results 211 to 220 of about 107,736 (307)

A Novel Plasma Heme Assay Reveals Disease Severity in Beta‐Thalassemia and Sickle Cell Anemia

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Anemia results from imbalanced hemoglobin or red blood cell production and clearance. Hemolytic anemia, caused by premature red blood cell removal, can be intravascular (in blood) or extravascular (erythrophagocytosis). Hemolysis is common in Sickle Cell Disease (SCD) and Beta‐Thalassemia anemia (β‐thalassemia), the most prevalent inherited ...
Laurent Kiger   +14 more
wiley   +1 more source

Sexual dysfunction in women with migraines: a systematic review. [PDF]

open access: yesArch Womens Ment Health
Stech K   +3 more
europepmc   +1 more source

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa   +23 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Sexuality, a Fundamental Care Need-Theoretical and Clinical Considerations, a Discursive Paper. [PDF]

open access: yesScand J Caring Sci
Laursen BS   +4 more
europepmc   +1 more source

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman   +15 more
wiley   +1 more source

A Systematic Review of Adverse Childhood Experiences and Epigenetic Age Acceleration in Later Adult Life Measured With Second and Third‐Generation Epigenetic Clocks

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We examined the relationship between adverse childhood experiences (ACEs) and epigenetic age acceleration (EAA) in adulthood as measured by second and third generation epigenetic clocks by performing a systematic review of the literature. The electronic databases MEDLINE and EMBASE were searched on 17 July 2023.
Matthew Green   +2 more
wiley   +1 more source

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