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Maladies endocriniennes
Troubles gonadiques
Troubles du développement sexuel
Troubles du développement sexuel de sujets 46, XY
Syndrome de Denys-Drash
Syndrome de Denys-Drash : Questions médicales fréquentes
Termes MeSH sélectionnés :
Surveys and Questionnaires
Diagnostic
5
Syndrome de Denys-Drash
Diagnostic médical
Anomalies congénitales
Malformations rénales
Échographie
Anomalies rénales
Hérédité
Syndrome de Denys-Drash
Symptômes
5
Insuffisance rénale
Tumeurs
Dysfonction hormonale
Puberté
Nouveau-né
Développement infantile
Retard de croissance
Syndrome de Denys-Drash
Prévention
5
Prévention
Conseil génétique
Conseil génétique
Transmission héréditaire
Tests prénataux
Anomalies génétiques
Dépistage
Mutations génétiques
Éducation des patients
Soins médicaux
Traitements
5
Dialyse
Transplantation rénale
Traitement hormonal
Anomalies sexuelles
Soins de soutien
Psychologie
Suivi médical
Évolution de la maladie
Complications
5
Insuffisance rénale
Cancers
Risque de cancer
Tumeurs rénales
Complications psychologiques
Anxiété
Gestion des complications
Approche multidisciplinaire
Qualité de vie
Impact sur la santé
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Facteurs environnementaux
Syndrome de Denys-Drash
Mutations héréditaires
Gène WT1
Tests génétiques
Évaluation du risque
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"name": "Quels tests génétiques sont utilisés ?",
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"name": "Y a-t-il des signes de dysfonctionnement hormonal ?",
"position": 7,
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"name": "Les enfants sont-ils affectés dès la naissance ?",
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}
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{
"@type": "Question",
"name": "Le syndrome affecte-t-il la croissance ?",
"position": 9,
"acceptedAnswer": {
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"name": "Y a-t-il des symptômes psychologiques associés ?",
"position": 10,
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"@type": "Question",
"name": "Peut-on prévenir le syndrome de Denys-Drash ?",
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"name": "Comment le conseil génétique aide-t-il ?",
"position": 12,
"acceptedAnswer": {
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"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": {
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"text": "Oui, des tests prénataux peuvent détecter des anomalies génétiques chez le fœtus."
}
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"name": "Les parents doivent-ils être testés ?",
"position": 14,
"acceptedAnswer": {
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"text": "Oui, le dépistage des parents peut identifier des porteurs de mutations génétiques."
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"name": "Y a-t-il des recommandations pour les familles ?",
"position": 15,
"acceptedAnswer": {
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"text": "Les familles doivent être informées des signes précoces et des soins médicaux nécessaires."
}
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"@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."
}
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{
"@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."
}
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{
"@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."
}
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{
"@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."
}
}
]
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 10/04/2025
Contenu vérifié selon les dernières recommandations médicales
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Division of Nephrology and Rheumatology, National Center for Child Health and Development.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Kobe University Graduate School of Medicine.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Kitasato University School of Medicine.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Pediatrics, Yokohama City University Graduate School of Medicine.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Pediatric Nephrology, Hospital Universitario Vall d'Hebron, Passeig de la Vall d'Hebron, Barcelona, Spain.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Advancing New Standards in Reproductive Health, Department of Obstetrics, Gynecology & Reproductive Sciences, University of California, San Francisco, Oakland, CA.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Geomatics Engineering, University of Calgary, Calgary, AB T2N 1N4, Canada.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Geomatics Engineering, University of Calgary, Calgary, AB T2N 1N4, Canada.
Department of Electrical and Computer Engineering, Port-Said University, Port-Said 42526, Egypt.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Geomatics Engineering, University of Calgary, Calgary, AB T2N 1N4, Canada.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
College of Business, Government and Law, Flinders University, Adelaide, Australia.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
Department of Psychology and Neuroscience, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, United States of America.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
School of Behavioural and Health Sciences, Australian Catholic University, Melbourne, Victoria, Australia.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
School of Psychology, University of Queensland, Brisbane, Queensland, Australia.
Publications dans "Syndrome de Denys-Drash" :
2 publications dans cette catégorie
Affiliations :
School of Psychological Sciences, University of Melbourne, Melbourne, Victoria, Australia.
Publications dans "Syndrome de Denys-Drash" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Publications dans "Syndrome de Denys-Drash" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Publications dans "Syndrome de Denys-Drash" :
1 publication dans cette catégorie
Affiliations :
Department of Pediatrics, The First Affiliated Hospital of Sun Yat-sen University, Guangzhou, China.
Publications dans "Syndrome de Denys-Drash" :
The Maastricht VI/Florence Consensus and Chinese National Consensus Report provide comprehensive guidelines for treating...
Chinese medical staff attending gastrointestinal conferences across various regions were selected for this study. The questionnaire included: 1. the number of patients with peptic ulcer bleeding in ho...
Across all levels of Chinese hospitals, the urea breath test was the most commonly used method for detecting...
There is a need for an enhanced understanding of and adherence to guidelines for...
The use of gonad contact shielding (GCS) in radiology departments has varied across countries, possibly because, until recently, there was no agreed consensus with mixed evidence supporting its use. T...
An online survey was sent via email to potential participants through the Society of Medical Radiographers Malta (SRM) as well as social media posts on local radiography pages. Descriptive and inferen...
Almost half of the registered radiographers working in radiology departments in Malta (n = 101/203) completed the survey (49.7 % response rate). 61.4 % of participating radiographers indicated they 'o...
Some misconceptions and uncertainties among radiographers concerning the benefits and risks of using GCS were noted. Local radiology departments should look into their protocols and assess the need fo...
Residents experience the longest working hours among physicians. Thus, it would be beneficial to perform a nationwide survey in Japan on residents' long work hours and the background factors promoting...
The survey was sent to 924 hospitals. The physicians' general attributes, work hours and conditions, and employers' foundational entities were explored. Multiple logistic regression analysis was perfo...
Of the 4306 resident physicians who responded, 67% had ≥ 60 in-hospital hours/week and 27% had ≥ 80 h/week; 51% were on-call ≥ four times/month. Many of them hoped for increased remuneration. Addition...
Understanding the factors that increase the likelihood of residents working very long hours could aid in making targeted changes to address the specific concerns. Moreover, reducing working hours to a...
With the rapid development of science and technology, the trend of low age myopia is becoming increasingly significant. The latest national survey done by the Chinese government found that more than 8...
Breastfeeding provides the optimal nutrition for infants and offers numerous benefits for both mother and child. The World Health Organisation recommends exclusive breastfeeding during the first 6 mon...
In this prospective, questionnaire-based study conducted between 2020 and 2022, primiparous women were asked to complete three questionnaires at three defined survey time points (routine prepartum pre...
A total of 140 women were included and returned all three questionnaires. Fifty-eight percent performed breastfeeding exclusively at least until their baby had reached the age of 6 months, whereas 20%...
Breastfeeding behaviour and duration are influenced by multiple factors. Although certain sociodemographic factors are unalterable, comprehensive prepartum knowledge transfer and postpartum midwifery ...
The study was retrospectively registered at the German Clinical Trials Register (Deutsches Register Klinischer Studien, DRKS) on 6 December 2022 (DRKS00030763)....
Hairdresser dystonia is one of the occupational dystonias and task-specific movement disorders occurring as a result of long-term repetitive cutting with scissors. The task-specific dystonia manifests...
Microplastics (MPs) can enter the body via plastic products. Given modern plastic exposure, we seek to assess MP exposure in large populations through epidemiological tools. In this quasi-experimental...
Patient feedback is an important way for healthcare providers to understand patient experience and improve the quality of care effectively and facilitate patient-centered care in the healthcare system...
Attendances aged 18 or above from all public hospitals with AEDs during 16-30 June 2016 were targeted and a cross-sectional telephone survey was conducted using AEEQ. Preliminary AEEQ consisted of 92 ...
A total of 512 patients were recruited with a response rate of 54% and a mean age of 53.2 years old. The exploratory factor analysis suggested removing 7 items due to weak factor loadings and high cro...
The AEEQ is a valid and reliable instrument to evaluate the AED service which helps to build the engagement platform for promoting patient-centered care between patients and frontline healthcare profe...
COVID-19 affected mental health and wellbeing. Research is needed to assess its impact using validated tools. The study assessed the content validity, reliability and dimensionality of a multidimensio...
An online questionnaire collected data in the second half of 2020 from adults in different countries. The questionnaire included nine sections assessing: COVID-19 experience and sociodemographic profi...
The overall CVI = 0.83 with lower values for the memory items. Cronbach α for the memory items = 0.94 and ICC = 0.71. Cronbach α for PTSD items was 0.93 and ICC = 0.89. Test-retest scores varied by se...
The questionnaire has good content validity and can be used to assess the impact of the pandemic in cross-sectional studies especially as individual items. The PSI and self-care strategies need revisi...
Many interstitial lung diseases (ILDs) have clear causal relationships with environmental and occupational exposures. Exposure identification can assist with diagnosis, understanding disease pathogene...
This scoping review aimed to summarise the available evidence relating to ILD exposure assessment questionnaires, identify research gaps and inform the content for a future single evidence-based ILD q...
A scoping review based on Arksey and O'Malley's methodological framework was conducted....
Any questionnaire that elicited exposures specific to ILD was included. A modified COSMIN Risk of Bias Framework was used to assess quality....
Relevant articles were identified from MEDLINE and EMBASE up to 23 July 2023....
22 exposure questionnaires were identified, including 15 generally pertaining to ILD, along with several disease-specific questionnaires for hypersensitivity pneumonitis (n=4), chronic beryllium disea...
Designing a robust ILD-specific questionnaire should include an evidence-based and relevance-based approach to exposure derivation, with clinicians and patients involved in its development and tested ...