Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to rule out ...

UNLABELLED The cardiovascular system is affected by a wide range of pathological processes, including neoplastic, inflammatory, ischemic, and congenital aetiology. Magnetic resonance imaging (MRI) and positron emission tomography (PET) are state-of-the-art imaging modalities used in the evaluation of these cardiovascular disorders. MRI has good spatial and temporal resolutions, tissue character...

BACKGROUND Interpretation of pediatric electromyography interpretation in myopathic disorders is technically challenging. We assessed our electromyographic experience with respect to sensitivity and specificity in pediatric myopathy. METHODS We did a retrospective chart review of patients ≤18 years between 2009 and 2013. Two hundred twenty-four electromyographic studies were reviewed with the...

The metabolic and anatomical substrate of most forms of mental retardation is not known. Because the basis of normal brain function is not sufficiently understood, the basis of abnormal function is understood poorly. Even in disorders where the fundamental biochemical defect is known, such as phenylketonuria (PKU) and other enzyme defects, the exact basis for brain dysfunction is uncertain. The...

Introduction Perinatal screening for congenital malformations and genetic disorders had its inception four decades ago, when testing of newborns for phenylketonuria began. Today, in part because of pilot studies conducted by the Southern California Permanente Medical Group (SCPMG) and The Permanente Medical Group (TPMG) (see next section), second-trimester prenatal screening for neural tube and...