Results 211 to 220 of about 181,665 (333)

Sickle Cell Diastolic Cardiomyopathy and Mortality Risk: A Novel Echocardiographic Framework for Prognostic Stratification

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Cardiovascular complications are the leading cause of mortality in sickle cell anemia (SCA) patients. While extensive data have identified diastolic dysfunction (DD) to increase morbidity and mortality, the unique hemodynamic conditions inherent to SCA challenge the current recommendations to assess diastolic function. Thus, there is an urgent
Théo Simon   +20 more
wiley   +1 more source

Cold Agglutinin Syndrome Secondary to Mycoplasma pneumoniae Infection in Adults: Results From a Large French Observational Study (MyCOLD Study)

open access: yesAmerican Journal of Hematology, EarlyView.
Summary of the main results of the MYCOLD studies. ABSTRACT Mycoplasma pneumoniae (MP), primarily a respiratory pathogen, can cause extra‐pulmonary manifestations including cold agglutinin syndrome (CAS). We conducted a national, multicenter, observational, ambispective study to describe the characteristics, risk factors, and outcomes of MP‐associated ...
Kevin Chevalier   +47 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel   +2 more
wiley   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

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