منابع مشابه
Rett syndrome: a prototypical neurodevelopmental disorder.
Rett syndrome, one of the leading causes of mental retardation and developmental regression in girls, is the first pervasive developmental disorder with a known genetic cause. The majority of cases of sporadic Rett syndrome are caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2). MeCP2 binds methylated DNA and likely regulates gene expression and chromatin structure. G...
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PRUNE syndrome, or neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies (OMIM#617481), is a new rare autosomal recessive neurodevelopmental disease that is caused by homozygous or compound heterozygous mutation in PRUNE1 on chromosome 1q21. Here, We report on 12-month-old and 30-month-old girls from 2 unrelated Saudi families with typical presentations of PRUNE...
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OBJECTIVE To assess the neurodevelopmental functions (cognition, language and motor function) of survivors of twin-twin transfusion syndrome (TTTS). METHOD Observational cross-sectional study of a total of 67 monochorionic diamniotic twins who underwent fetoscopic laser coagulation (FLC) for treatment of TTTS. The study was conducted at the Center for Investigation in Pediatrics (CIPED), Univ...
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Leptomeningeal carcinomatosis (LC) is a serious complication found in approximately 1% to 8% of patients with solid cancer and carries substantial rates of morbidity and mortality. Up to 48% of patients may present with LC before the presence of systemic cancer is known. We present the case of a patient who presented with symptoms of cauda equina syndrome and for whom subsequent investigations ...
متن کاملNeurodevelopmental Outcomes in Patients with Hypoplastic Left Heart Syndrome
Purpose: Hypoplastic Left Heart Syndrome (HLHS) accounts for 7-9% of all congenital heart diseases. It is fatal unless surgically corrected. Survival has improved overtime. However, neurodevelopmental outcomes have not been known until recently. This paper discusses the neurodevelopmental outcomes of patients with HLHS and the factors that influence these outcomes. Methods: A search of the lite...
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ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2015
ISSN: 0012-1622
DOI: 10.1111/dmcn.12757