Titre : Syndrome de Denys-Drash

Syndrome de Denys-Drash : Questions médicales fréquentes

Termes MeSH sélectionnés :

Cognitive Dysfunction
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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=Cognitive+Dysfunction&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=Cognitive+Dysfunction&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=Cognitive+Dysfunction&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=Cognitive+Dysfunction&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=Cognitive+Dysfunction&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=Cognitive+Dysfunction&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)

Predictors of cognitive dysfunction in hereditary transthyretin amyloidosis with liver transplant.

Cognitive dysfunction is part of the broad spectrum of clinical manifestations in older untreated hereditary transthyretin amyloidosis patients with peripheral polyneuropathy.... The objective of this study is to systematically explore cognitive dysfunction in ATTRV30M amyloidosis patients whose disease course was modified by liver transplant (LT).... A series of 269 carriers of TTRVal30Met mutation treated with LT underwent a neuropsychological assessment. Clinical charts were reviewed to identify focal neurological episodes (FNEs), cognitive comp... Cognitive dysfunction was identified in 35 patients (13%)-14 (5%) had mild and 21 (8%) had moderate dysfunction. In comparison to normal cognition, both mild and moderate cognitive dysfunction patient... Consistent with the natural history of the disease, older age and higher severity of the disease are significantly associated and potentially predictors of cognitive dysfunction in ATTRV30M patients t...

Risk factors for cognitive dysfunction amongst patients with cardiovascular diseases.

The impact of cardiovascular diseases on cognition raises important research questions. The study aimed to investigate the relationship between demographic data, cardiovascular diseases, kidney diseas... A cross-sectional study of patients with cardiovascular diseases was performed. The Montreal Cognitive Assessment (MoCA) was applied for cognitive evaluation. Based on MoCA three groups were defined: ... Of 628 patients, 55.2% had mild CD, and the mean age was 67.95 (SD 9.53) years. Cα and Mω were 0.7, indicating good internal consistency. We found a moderate positive correlation between depression an... Mild CD was the most common in patients with cardiovascular diseases. Older age, lower education, being a non-smoker, and renal dysfunction were risk factors for both mild and advanced CD. Female gend...

Predictors of cognitive dysfunction one-year post COVID-19.

(a) To characterize the frequency of objective cognitive deficits and self-perceived cognitive difficulties and (b) to explore demographic and clinical predictors of cognitive dysfunction and cognitiv... One hundred and ten adults diagnosed with COVID-19 between March and November 2020, aged ≤ 74 years underwent a brief neuropsychological evaluation 12 months after infection, which included: Brief Vis... Twenty participants (18.2%) had cognitive dysfunction and 36 (33.3%) had cognitive complaints. Cognitive dysfunction was related to lower education, preinfection history of headache/migraine, and acut... A subset of individuals develops cognitive difficulties in the context of post-COVID syndrome. Results may support the protective effect of education, a known proxy of cognitive reserve. COVID-19 infe...

Cognitive Dysfunction Biomarkers in Patients With Rheumatoid Arthritis: A Systematic Review.

During the last years, a growing number of studies have investigated the link between cognitive dysfunction and rheumatoid arthritis (RA), highlighting the potential pathogenic role of several clinica... We performed a systematic review using PRISMA (Preferred Reported Items for Systematic Reviews and Meta-analysis) protocol. A systematic search was conducted in the PubMed/MEDLINE, EMBASE, LILACS, Sco... Five original studies were included, which provided data from 428 participants. Among plasma proteins, SHH was increased and TTR was reduced in patients with mild cognitive impairment; anti-myelin bas... Despite the relative scarcity of studies on this subject and the heterogeneity of results, we identified possible biomarkers for cognitive deficits in the RA population. Further longitudinal studies a...

Endothelial Dysfunction and Pre-Existing Cognitive Disorders in Stroke Patients.

The origin of pre-existing cognitive impairment in stroke patients remains controversial, with a vascular or a degenerative hypothesis.... To determine whether endothelial dysfunction is associated with pre-existing cognitive problems, lesion load and biological anomalies in stroke patients.... Patients originated from the prospective STROKDEM study. The baseline cognitive state, assessed using the IQ-CODE, and risk factors for stroke were recorded at inclusion. Patients with an IQ-CODE scor... A total of 86 patients were included (52 males; mean age 63.5 ± 11.5 years). Patients with abnormal RHI have hypertension or antihypertensive treatment more often. The baseline IQ-CODE was abnormal in... A vascular mechanism may be responsible for cognitive problems pre-existing stroke. The measurement of endothelial dysfunction after stroke could become an important element of follow-up, providing an...

Cognitive Dysfunction in Heart Failure: Pathophysiology and Implications for Patient Management.

There is increasing recognition of the prevalence and impact of cognitive dysfunction (CD) in heart failure (HF) patients. This contemporary review appraises the evidence for epidemiological associati... CD disproportionately affects heart failure patients, even accounting for known comorbid risk factors, and this may extend to subclinical left ventricular dysfunction. Neuroimaging studies now provide...

Frequency and risk factors for cognitive dysfunction in peritoneal dialysis patients.

There is limited data on cognition in patients undergoing peritoneal dialysis (PD). We assessed prevalence and associated risk factors of neurocognitive impairment (NCI) in PD patients.... A cross-sectional cohort study of 149 PD patients at a single centre between 2016 and 2020 who underwent neurocognitive screening at defined intervals by Addenbrooke's Cognitive Examination - Revised ... Patients on PD performed poorly in ACE-R screening compared to population norms, with discrepancy in all cognitive domains. In patients without CVD, attention and language domains were comparable to n... Patients on PD have higher prevalence of NCI than the general population, primarily with impairments in memory, fluency and visuospatial reasoning. CVD confers poorer performance in attention and lang...