Results 71 to 80 of about 1,049,615 (334)
, 2002 Interactivity has become a major consideration in the development of a contemporary art practice that engages with the proliferation of computer based technologies ...
openaire +2 more sources
Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó +17 more
wiley +1 more source
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald +74 more
wiley +1 more source
Hepcidin and iron homeostasis during pregnancy. [PDF]
, 2014 Hepcidin is the master regulator of systemic iron bioavailability in humans. This review examines primary research articles that assessed hepcidin during pregnancy and postpartum and report its relationship to maternal and infant iron status and birth ...
Cadwell, Brooke +4 more
core +1 more source
Practice Recommendations for Genetic Testing of Ataxias
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan +7 more
wiley +1 more source
Prenatal ultrasound screening for fetal anomalies and outcomes in high-risk pregnancies due to maternal HIV infection : a retrospective study [PDF]
, 2013 Objective: To assess the prevalence of prenatal screening and of adverse outcome in high-risk pregnancies due to maternal HIV infection. Study design: The prevalence of prenatal screening in 330 pregnancies of HIV-positive women attending the ...
Buxmann, Horst +6 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The pathogenesis of Sydenham chorea remains unclear. We report a 10‐year‐old girl presenting with subacute chorea and mild carditis following Streptococcal throat infection. Single‐cell RNA sequencing on 30,794 peripheral immune cells from the patient and two sex‐matched controls revealed nine immune cell clusters.
Velda X. Han +9 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Autoimmune rheumatic diseases commonly affect individuals of childbearing age, with historically increased adverse pregnancy outcomes in this group. The advent of disease‐modifying antirheumatic drugs (DMARDs) has fostered more suitable conditions for pregnancy; however, this is accompanied by challenges in ensuring safe use in reproductive ...
Athena Chin +4 more
wiley +1 more source
Serum relaxin levels are reduced in pregnant women with a history of recurrent miscarriage, and correlate with maternal uterine artery Doppler indices in first trimester [PDF]
, 2009 Objectives: Defective implantation is a mechanism for recurrent pregnancy loss (RPL). We sought to determine whether the serum expression of human relaxin-2 (RLX) is impaired in women with a history of RPL.
Bogic +30 more
core +1 more source