Titre : Syndrome de Denys-Drash

Syndrome de Denys-Drash : Questions médicales fréquentes

Termes MeSH sélectionnés :

Ventricular Function, Left
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Syndrome de Denys-Drash", "description": "Comment diagnostique-t-on le syndrome de Denys-Drash ?\nQuels tests génétiques sont utilisés ?\nQuels signes cliniques indiquent ce syndrome ?\nLes échographies sont-elles utiles ?\nLe syndrome est-il héréditaire ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Ventricular+Function,+Left&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Syndrome de Denys-Drash", "description": "Quels sont les symptômes principaux ?\nY a-t-il des signes de dysfonctionnement hormonal ?\nLes enfants sont-ils affectés dès la naissance ?\nLe syndrome affecte-t-il la croissance ?\nY a-t-il des symptômes psychologiques associés ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Ventricular+Function,+Left&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Syndrome de Denys-Drash", "description": "Peut-on prévenir le syndrome de Denys-Drash ?\nComment le conseil génétique aide-t-il ?\nLes tests prénataux sont-ils possibles ?\nLes parents doivent-ils être testés ?\nY a-t-il des recommandations pour les familles ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Ventricular+Function,+Left&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Syndrome de Denys-Drash", "description": "Quel est le traitement principal pour l'insuffisance rénale ?\nDes traitements hormonaux sont-ils nécessaires ?\nComment gérer les tumeurs associées ?\nY a-t-il des soins de soutien disponibles ?\nLe suivi médical est-il important ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Ventricular+Function,+Left&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Syndrome de Denys-Drash", "description": "Quelles sont les complications possibles ?\nLe syndrome augmente-t-il le risque de cancer ?\nDes complications psychologiques peuvent-elles survenir ?\nComment les complications sont-elles gérées ?\nLes complications affectent-elles la qualité de vie ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Ventricular+Function,+Left&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Syndrome de Denys-Drash", "description": "Quels sont les facteurs de risque connus ?\nLe sexe influence-t-il le risque ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes mutations génétiques sont-elles héréditaires ?\nY a-t-il des tests pour évaluer le risque ?", "url": "https://questionsmedicales.fr/mesh/D030321?mesh_terms=Ventricular+Function,+Left&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on le syndrome de Denys-Drash ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'analyse génétique et l'imagerie rénale." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests pour identifier des mutations dans le gène WT1 sont effectués." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent ce syndrome ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Les signes incluent des malformations rénales, des anomalies génitales et des troubles de croissance." } }, { "@type": "Question", "name": "Les échographies sont-elles utiles ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les échographies rénales aident à détecter les anomalies structurelles." } }, { "@type": "Question", "name": "Le syndrome est-il héréditaire ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il est généralement hérité de manière autosomique dominante." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent l'insuffisance rénale, des anomalies génitales et des tumeurs." } }, { "@type": "Question", "name": "Y a-t-il des signes de dysfonctionnement hormonal ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des signes de dysfonctionnement hormonal peuvent apparaître, affectant la puberté." } }, { "@type": "Question", "name": "Les enfants sont-ils affectés dès la naissance ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent apparaître à la naissance ou se développer durant l'enfance." } }, { "@type": "Question", "name": "Le syndrome affecte-t-il la croissance ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des retards de croissance peuvent être observés chez les enfants atteints." } }, { "@type": "Question", "name": "Y a-t-il des symptômes psychologiques associés ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Des problèmes psychologiques peuvent survenir, liés à l'adaptation à la maladie." } }, { "@type": "Question", "name": "Peut-on prévenir le syndrome de Denys-Drash ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de prévention, mais un conseil génétique peut aider les familles à risque." } }, { "@type": "Question", "name": "Comment le conseil génétique aide-t-il ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Il informe les familles sur les risques de transmission et les options disponibles." } }, { "@type": "Question", "name": "Les tests prénataux sont-ils possibles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des tests prénataux peuvent détecter des anomalies génétiques chez le fœtus." } }, { "@type": "Question", "name": "Les parents doivent-ils être testés ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage des parents peut identifier des porteurs de mutations génétiques." } }, { "@type": "Question", "name": "Y a-t-il des recommandations pour les familles ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Les familles doivent être informées des signes précoces et des soins médicaux nécessaires." } }, { "@type": "Question", "name": "Quel est le traitement principal pour l'insuffisance rénale ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "La dialyse ou la transplantation rénale est souvent nécessaire pour l'insuffisance rénale." } }, { "@type": "Question", "name": "Des traitements hormonaux sont-ils nécessaires ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des traitements hormonaux peuvent être requis pour corriger les anomalies sexuelles." } }, { "@type": "Question", "name": "Comment gérer les tumeurs associées ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Les tumeurs peuvent nécessiter une chirurgie, une chimiothérapie ou une radiothérapie." } }, { "@type": "Question", "name": "Y a-t-il des soins de soutien disponibles ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des soins de soutien psychologique et éducatif sont souvent recommandés." } }, { "@type": "Question", "name": "Le suivi médical est-il important ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour surveiller l'évolution de la maladie." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent l'insuffisance rénale terminale et les cancers associés." } }, { "@type": "Question", "name": "Le syndrome augmente-t-il le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients ont un risque accru de développer des tumeurs, notamment rénales." } }, { "@type": "Question", "name": "Des complications psychologiques peuvent-elles survenir ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des complications psychologiques comme l'anxiété et la dépression sont possibles." } }, { "@type": "Question", "name": "Comment les complications sont-elles gérées ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les complications nécessitent une approche multidisciplinaire incluant divers spécialistes." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement impacter la qualité de vie des patients." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent des antécédents familiaux de syndrome et des mutations génétiques." } }, { "@type": "Question", "name": "Le sexe influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le syndrome est plus fréquent chez les garçons en raison des anomalies sexuelles." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'y a pas de preuves solides liant des facteurs environnementaux au syndrome." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles héréditaires ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les mutations dans le gène WT1 sont souvent héritées de manière autosomique dominante." } }, { "@type": "Question", "name": "Y a-t-il des tests pour évaluer le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Des tests génétiques peuvent évaluer le risque pour les membres de la famille." } } ] } ] }

Sources (10000 au total)

Perioperative changes in left ventricular systolic function following surgical revascularization.

Nearly 1/3rd of patients undergoing coronary artery bypass graft surgery (CABG) have left ventricular systolic dysfunction. However, the extent, direction and implications of perioperative changes in ... We studied the changes in LVEF among 549 patients with left ventricular systolic dysfunction (LVEF <50%) who underwent CABG as part of the Surgical Treatment for Ischemic Heart Failure (STICH) tria... Of the 549 patients (mean age 61.4±9.55 years, and 72 [13.1%] women), 145 (26.4%) had a >10% improvement in LVEF, 369 (67.2%) had no change and 35 (6.4%) had >10% worsening of LVEF following CAB... Among patients with ischemic cardiomyopathy undergoing CABG, 26.4% had >10% improvement in LVEF. An improvement in LVEF was more likely in patients with lower preoperative LVEF and was associated w...

Evaluation of left atrial and left ventricular functions with 3D speckle-tracking echocardiography in patients with coronary artery tortuosity.

Tortuosity in the coronary arteries is a very common entity encountered during angiography. The effect of coronary artery tortuosity (CAT) on the myocardium has not been completely investigated. The a... Seventy-five patients with CAT and 80 age- and gender-matched controls who proved to have normal coronary angiograms (CAG) were enrolled into the study. Following CAG, the 2D images were obtained firs... The LAS-r, LAS-active, and LV-GLS were significantly depressed in the CAT (+) group (p < .001, p < .001, p = .012, respectively). The multivariate regression models demonstrated that LAS-r (p < .001),... The current study is the first to focus on the assessing both LA and LV myocardial dynamics in CAT (+) patients by strain echocardiography. The results of our study support the patients with CAT may h...

Unsupervised Machine Learning for Assessment of Left Ventricular Diastolic Function and Risk Stratification.

The 2016 American Society of Echocardiography guidelines have been widely used to assess left ventricular diastolic function. However, limitations are present in the current classification system. The... Baseline demographics, heart failure hospitalization, and all-cause mortality data were obtained for all adult patients who underwent transthoracic echocardiography at Mayo Clinic Rochester in 2015. P... Among 24,414 patients (mean age, 63.6 ± 16.2 years), all-cause mortality occurred in 4,612 patients (18.9%) during a median follow-up period of 3.1 years. The algorithm determined three clusters with ... Unsupervised machine learning identified physiologically and prognostically distinct clusters on the basis of nine diastolic function Doppler variables. The clusters can be potentially applied in echo...

Is increased myocardial triglyceride content associated with early changes in left ventricular function? A

Type 2 diabetes (T2D) and obesity induce left ventricular (LV) dysfunction. The underlying pathophysiological mechanisms remain unclear, but myocardial triglyceride content (MTGC) could be involved.... This study aimed to determine which clinical and biological factors are associated with increased MTGC and to establish whether MTGC is associated with early changes in LV function.... A retrospective study was conducted using five previous prospective cohorts, leading to 338 subjects studied, including 208 well-phenotyped healthy volunteers and 130 subjects living with T2D and/or o... MTGC content increased with age, body mass index (BMI), waist circumference, T2D, obesity, hypertension, and dyslipidemia, but the only independent correlate found in multivariate analysis was BMI (p=... Predicting MTGC remains a challenge in routine clinical practice, as only BMI independently correlates with increased MTGC. MTGC may play a role in LV dysfunction but does not appear to be involved in...

Echocardiographic pattern of left ventricular function recovery in tachycardia-induced cardiomyopathy patients.

Tachycardia-induced cardiomyopathy (TCM) represents a partially reversible type of cardiomyopathy (CM) that is often underdiagnosed and cardiac chamber remodelling in TCM remains incompletely understo... We identified patients with reduced ejection fraction (≤50%) and/or atrial fibrillation or flutter with a left ventricular ejection fraction that improved from baseline (≥15% in left ventricular eject... TCM patients have a specific pattern of functional recovery with persistent remodelling of the left atria and left ventricle. Several echocardiographic parameters might help identify TCM before treatm...

Improvement of hypertension control and left-ventricular function after cure of primary hyperparathyroidism.

Cardiovascular mortality is significantly higher in patients with primary hyperparathyroidism (PHPT) compared to the general population. The role of the renin-angiotensin-aldosterone system (RAAS) as ... In 45 consecutive, hypercalcemic PHPT patients (91% female, 20 normotensive, mean age 54.6 ± 14.6), laboratory examinations, and 24 h ambulatory blood pressure monitoring (ABPM) were performed before,... Both in patients with normotension (NT) and HT, lower calcemia and parathyroid hormone (PTH) as well as higher phosphatemia were observed on follow-up, while B-type natriuretic peptide, aldosterone, p... PTX was shown to significantly reduce BP, LV hypertrophy and diastolic dysfunction parameters in PHPT patients with HT, and improve systolic function in all PHPT patients....

Impact of Rheumatic Process in Left and Right Ventricular Function in Patients with Mitral Regurgitation.

Mitral regurgitation (MR) burdens the left and right ventricles with a volume or pressure overload that leads to a series of compensatory adaptations that eventually lead to ventricular dysfunction, a... Evaluate whether rheumatic etiology is associated with ventricular dysfunction in patients with chronic MR.... The study population comprised patients aged 18 years or older included in the registry who had echocardiography performed at the National Cardiovascular Center Harapan Kita in Indonesia during the st... The current study included 1,130 patients with significant isolated degenerative MR and 276 patients with rheumatic MR. Patients with rheumatic MR were younger and had a higher prevalence of atrial fi... Rheumatic etiology was independently associated with more impaired left ventricular function; however, rheumatic etiology was not associated with reduced right ventricular systolic function in a patie...