منابع مشابه
New Insights into Antisynthetase Syndrome.
Antisynthetase syndrome (ASS) is a rare chronic autoimmune disorder (2-3 times more common in women than in men), associated with interstitial lung disease (the most important feature), dermatomyositis (DM), and polymyositis (PM). The cause of ASS is unknown. Recent developments in immunology have improved our knowledge and it is now possible to classify ASS according to the presence of myositi...
متن کامل[New insights into the long-QT syndrome].
Long QT Syndrome (LQTS) is an arrhythmogenic disease in which prolongation of cardiac repolarization alters electrical stability of the heart predisposing affected individuals to cardiac arrest. The first arrhythmic manifestations occur during adolescence and largely are triggered by increased sympathetic activity. Mutations in genes encoding ion channels or ion channels’ controlling proteins h...
متن کاملInsights into brain development from neurogenetic syndromes: evidence from fragile X syndrome, Williams syndrome, Turner syndrome and velocardiofacial syndrome.
Over the past few decades, behavioral, neuroimaging and molecular studies of neurogenetic conditions, such as Williams, fragile X, Turner and velocardiofacial (22q11.2 deletion) syndromes, have led to important insights regarding brain development. These investigations allow researchers to examine "experiments of nature" in which the deletion or alteration of one gene or a contiguous set of gen...
متن کاملNew Insights on Genetic Features of Neu-Laxova Syndrome
ABSTRACTBackground: This study aimed to present a rare case of Neu-Laxova syndrome (NLS) and review the newly revealed genetic features of the disease in hopes to find a way for early interventions.Case report: Female newborn with NLS was born at 30 weeks of gestation to consanguineous parents. The last prenatal ultrasound imaging revealed severe intrauterine growth restriction and microcephaly...
متن کاملNew insights into Brunner syndrome and potential for targeted therapy.
We report two families with Brunner syndrome living in one state of Australia. The first family had a predicted protein-truncating variant of monoamine oxidase A (MAOA) (p.S251KfsX2). Affected males had mild intellectual disability (ID), obsessive behaviour, limited friendships and were introverted and placid during clinical interview. The family disclosed episodic explosive aggression after a ...
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ژورنال
عنوان ژورنال: Nature Reviews Endocrinology
سال: 2017
ISSN: 1759-5029,1759-5037
DOI: 10.1038/nrendo.2017.87