Search results for "CHD"

Association Between Fatty Acids of Blood Cell Membranes and Incidence of Coronary Heart Disease

2019

Objective— To examine the associations between baseline levels of fatty acids in blood cell membranes and their 1-year changes with the incidence of coronary heart disease (CHD) in older adults at high cardiovascular disease risk. Approach and Results— This is a case-control study nested in the PREDIMED trial (Prevención con Dieta Mediterránea), with 136 CHD cases and 272 controls (matched on age, sex, body mass index, intervention group, and time of permanence in the study to the time event). We used gas chromatography to measure the proportion of 22 fatty acids in blood cell membranes at baseline and after 1 year. Conditional logistic regression was used to estimate odds ratios (ORs) and…

Sema3a plays a role in the pathogenesis of CHARGE syndrome

2018

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome. First, Chd7 is enriched at the Sema3a promotor in neural crest cells and loss of function of Chd7 inhibits Sema3a expression…

Somatic copy number alterations are associated with EGFR amplification and shortened survival in patients with primary glioblastoma.

2019

Glioblastoma (GBM) is the most common malignant primary tumor of the central nervous system. With no effective therapy, the prognosis for patients is terrible poor. It is highly heterogeneous and EGFR amplification is its most frequent molecular alteration. In this light, we aimed to examine the genetic heterogeneity of GBM and to correlate it with the clinical characteristics of the patients. For that purpose, we analyzed the status of EGFR and the somatic copy number alterations (CNAs) of a set of tumor suppressor genes and oncogenes. Thus, we found GBMs with high level of EGFR amplification, low level and with no EGFR amplification. Highly amplified tumors showed histological features of…

Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, Confirm Its pathogenicity in a Spanish patient a…

2018

Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without molecular diagnosis. A splice donor variant in CHD7 (c.5665 + 1G > T) was identified. To study its potential pathogenicity, exons and flanking intronic sequences were amplified from patient DNA and cloned into the pSAD® splicing vector. HeLa cells were transfected with this construct and a wild-type minigene and functional analysis were performed. The construct with the c.5665 + 1G > T variant p…

A validation study of an Italian version of the ID Migraine: preliminary results

2005

Migraine is a highly prevalent and disabling disease that is substantially undiagnosed in primary care. Recently, the ID Migraine, a self–administered questionnaire, was shown to be a valid and reliable screener for migraine in primary care in the USA. To validate an Italian version of the ID Migraine, we planned a multicentric study, evaluating at least 220 patients affected by various form of headache. The responses to the questionnaire were compared with the diagnosis of headache made by a headache specialist blind to the result of the questionnaire. Sensitivity, specificity, and positive and negative predictive values for migraine were calculated. The statistical analysis on 140 patient…

De la reproduction au récit de soi : engendrement et destruction des images dans Fun Home et Are You My Mother? d'Alison Bechdel

2022

International audience

Raconter ses lectures, se raconter : plaisir de lire, identité et émancipation chez Alison Bechdel

2017

National audience; Cette communication interroge l’importance donnée aux liens entre plaisir de lire et identité (en particulier identité lesbienne) dans les récits autobiographiques d’Alison Bechdel. Celle-ci met en scène une première opposition entre les lectures d’enfance, caractérisée par l’immersion narrative, et les lectures légitimes que son père tente de lui imposer à mesure qu’elle grandit, avec une injonction à lire qu’elle finit par intérioriser. Cette opposition prend une valeur plus directement identitaire lorsque la lecture obligatoire de Ulysses à l’université est systématiquement opposée à la lecture d’un corpus varié d’œuvres gays et lesbiennes au moment de l’éveil politiqu…

Penser la frontière entre essai et autobiographie à partir de la bande dessinée. Are You My Mother? d'Alison Bechdel

2018

Based on Alison Bechdel's autobiographical essay Are You My Mother?, this article is a discussion on two boundaries of the essay : a generic boundary between essay and autobiography, questioned by the possibility of autobiographical essay, and an intermedial boundary challenged by the development of graphic essays in comics. Are You My Mother? is a self-reflexive autobiographical work which describes the author's discovery of psychoanalysis and deals at the same time with mother-child relationships and the continuity between novel writing, autobiography and psychoanalysis, thus articulating autobiographical material and general thoughts. The book can be described in particular as a consiste…

Gunther E. Rothenberg. <italic>Napoleon's Great Adversaries: The Archduke Charles and the Austrian Army, 1792–1814</italic>. Bloomington:…

1983

Per la committenza artistica degli arcivescovi iberici della Diocesi di Palermo (1278-1802). L’apporto dell’araldica

2021

Gli arcivescovi di Palermo nel corso dei secoli hanno costantemente espresso un’aulica committenza di arte sacra, molto spesso particolarmente onerosa e prestigiosa per i materiali, i modelli e gli artefici scelti. Si tratta di suppellettili metalliche, manoscritti o libri a stampa su pergamena e carta, parati realizzati in tessuto operato o ricamato, plasticazioni in stucco e arredi sacri in pietre dure, dipinti, insegne vescovili in uso nella cappella privata o nella cattedrale. L'intervento si concentrerà solo sui presuli di origine spagnola, una ventina in tutto, nominati nei secoli in cui la Sicilia gravitava nella sfera di influenza spagnola (1282-1713). The archbishops of Palermo ove…