1,721,132 research outputs found
Le ipercolesterolemie familiari: forme dominanti e recessive (FH, FDB, FH3, FH4, ARH, beta-sitosterolemia, Deficit di 7alpha-idrossilasi).
No full textAutism Spectrum Disorder and other Neurodevelopmental Disorders: cytogenetic and genomic approaches
No full textIntroduction: Neurodevelopmental disorders (NDDs) are a heterogeneous class of conditions involving the brain, including intellectual disability (ID) and autism spectrum disorder (ASD), that affect about 1%-3% of children (Miller et al., 2010). The genetics of NDDs is complex and include copy number variations (CNVs), pathogenetic mutations in single genes. To date, more than 1000 genes have been implicated in the etiopathogenesis of NNDs. Preliminary investigations have suggested that the majority of Developmental Disorders, in particular ASD, are actually polygenic; in addition, the genetic and environmental interplay in defining the phenotype clearly classifies NDDs such as ID and ASD as complex disorders. In this dissertation, I sought to explore the contribution of rare de novo and inherited coding variation in neurodevelopmental disorders and use these genetic variations to identify neurodevelopmental disorder associated genes and new/unknown oligogenic mechanisms.
Methods: In a retrospective review of data, we re-evaluated all the results of diagnostic array-CGH tests on 700 cases with NDDs, focusing on variants previously interpreted as VOUS. Furthermore a series of 68 patients with autism spectrum disorder were recruited to perform whole exome sequencing and eventual whole genome sequencing. A deep analysis of VOUS, mainly consisting in a revision of gene expression/function annotation, and chromatine organization data, was performed. New candidate genes were analysed by GeneCodis4 to evidence enrichment for known NDD-associated GeneOntology terms and pathways. Whole exome sequencing was performed and potentially deleterious variants prioritized by custom filtering strategies including the use of ORVAL (Oligogenic Resource for Variant Analysis Platform) and enrichment analysis of candidate genes with GeneCodis4.
Results: In about 42% of cases pathogenic CNVs were found, while in 58% identified CNVs remained initially VOUS. New potential genes and mechanisms such as double-hit mechanisms were found in our patients. In our 34 analysed ASD patients 11 cases showed possible deleterious rare variants, in different and, in the majority of cases, in multiple genes. The role of X chromosome and neurotransmitter pathways appears important.
Conclusion: In our cohort of NDDs patients CNV-mediated double-hit mechanisms seem to play a relevant role in elucidate complex phenotypes. About 10% of patients from our ASD cohort also showed rare deleterious variants in multiple genes that seem to fully explain their complex phenotype
Lipoproteins, stroke and statins.
No full textDyslipidemia represents one of the major risk factors for atherosclerosis affecting the arteries of large and medium caliber and consequently causing ischemia in the brain, heart, or legs. Coronary artery disease and cerebral stroke represent the major causes of morbidity and mortality among the elderly and middle aged subjects. The change of lifestyle can reduce the risk of cardiovascular disease but available drug therapy (in particular statins, inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A reductase) is effective in modifying hyperlipidemia and consequently reducing cardiovascular events. The hypolipemic drugs can prevent, slow the progression and sometimes determine the regression of atherosclerotic plaques, therefore significantly reducing the clinical complications of atherosclerotic cardiovascular disease. In this review, we want to point out the role of the different lipoproteins, such as triglycerides, HDL-C, LDLC, Lp(a), in the pathogenesis of stroke and the role of statins in reducing both lipid fractions and stroke risk
Denaturing high-performance liquid chromatography (DHPLC) in the detection of mutations of ABCA1 gene in Familial HDL Deficiency.
No full textCarotid ultrasonography in the assessment of cardiovascular risk
No full textCarotid ultrasound is one of the most accessible examinations in daily clinical practice for the evaluation of the arterial status. However, the clinical implications of the presence, the extension and the morphology of carotid damage are not entirely clear. Aim of this narrative review is to discuss the role of carotid ultrasound in the assessment of cardiovascular risk through the examination of the updated evidence in the literature. We describe the technical aspects of the procedure and the possible correlations between the imaging results and the assessment of the cardiovascular risk. Some insights about new, more sophisticated techniques for carotid evaluation, such as carotid three-dimensional and contrast-enhanced ultrasound, are also presented
Evaluation of RNA messangers involved in lipid trafficking of human intestinal cells by RT-PCR with competimer technology and microchip electrophoresis.
No full textNutraceutical pill containing berberine versus ezetimibe on plasma lipid pattern in hypercholesterolemic subjects and its additive effect in patients with familial hypercholesterolemia on stable cholesterol-lowering treatment
Full text linkEffect of statin treatment on arterial stiffness in individuals with newly-diagnosed Heterozygous Familial Hypercholesterolemia.
No full textThe real-life use of a protein-sparing modified fast diet by nasogastric tube (ProMoFasT) in obese adults: An open-label randomized controlled trial
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