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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 :
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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{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
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"name": "Les échographies sont-elles utiles ?",
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"name": "Quels sont les symptômes principaux ?",
"position": 6,
"acceptedAnswer": {
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"@type": "Question",
"name": "Y a-t-il des signes de dysfonctionnement hormonal ?",
"position": 7,
"acceptedAnswer": {
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"name": "Les enfants sont-ils affectés dès la naissance ?",
"position": 8,
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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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"text": "Oui, des retards de croissance peuvent être observés chez les enfants atteints."
}
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"@type": "Question",
"name": "Y a-t-il des symptômes psychologiques associés ?",
"position": 10,
"acceptedAnswer": {
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"@type": "Question",
"name": "Peut-on prévenir le syndrome de Denys-Drash ?",
"position": 11,
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"@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": {
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"text": "Oui, des tests prénataux peuvent détecter des anomalies génétiques chez le fœtus."
}
},
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"@type": "Question",
"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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"@type": "Question",
"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" :
A case-control study explored the application of case-based teaching methods in the clinical teaching of radiology....
126 radiology interns of grade 2018 were selected by cluster sampling and randomly divided into the research group and the control group. The traditional teaching approach was used in the control grou...
The interns' test scores, the research group's case summary multiple-choice questions, case-group multiple-choice questions, case analysis questions, theoretical total scores, and practical operation ...
The application of the case teaching method based on primary teaching principle in the radiology clinical teaching course is helpful to cultivate students' critical thinking ability and improve studen...
The aim of this work was to evaluate the impact of a teaching method in pharmacokinetics (PK) in terms of satisfaction and performance in the final test of students....
This method consisted of the development of a practical problem and a peer-tutored solution by small groups of three or four students. Students enrolled in the second year of pharmaceutical studies ha...
More than 70% of the students were highly satisfied with the new format of the PK course, especially concerning the development and the design of a practical problem. More than 94% of the students con...
This new method including peer teaching was applied in PK and allowed to significantly increase the performance and the satisfaction of the students in PK....
The purpose of this study is to use feedback from student evaluations of teaching (SETs) to define and describe themes associated with perceived teaching effectiveness....
We retrospectively analyzed SETs for instructors in required didactic courses from one academic year using qualitative content analysis. The analysis included student responses to the following questi...
Five themes were developed from 4683 coded segments and are described with example quotations. These themes included clarity of instruction and learning activities, alignment of learning and assessmen...
These themes and supportive quotes offer a deeper understanding of the student perspective on similar ideas that are present throughout the teaching and learning literature and represent broad aspects...
To analyze reflective practice in the teaching-learning process of nurses in residency programs in teaching hospitals in Minas Gerais, Brazil....
Case study, based on the reflective practice framework, conducted in two teaching hospitals. Observation and interviews were conducted with first and second-year residents, and five participants were ...
In 519 observed activities, elements of reflection were identified in 22.2%, especially active listening and expression of doubts. Discourses indicated practice as the best moment for teaching-learnin...
Know-in-action reflection was evidenced as the predominant formative aspect for residents, with few opportunities for reflection on reflection-in-action....
Contact lens (CL) practice is an ever-changing field with clinical knowledge, techniques and equipment continuously evolving. These new developments are backed with clinical trials and research to ens...
An expert panel of educators completed a comprehensive literature review of current evidence of teaching methods in CL training, or if not available then what can be learnt from other health care prof...
Due to the amount of evidence available in the overall subject area relating to healthcare education, the initial plan of compiling evidence into one narrative review paper was discarded in favour of ...
There is a small amount of evidence supporting CL education, but most of this seems to be related to the practical element of the training. However, there is a lot of evidence in the field of healthca...
As medical education evolves, Problem-Based Learning (PBL) and Case-Based Learning (CBL) methodologies have emerged as vital pedagogical tools. This study aims to delve into the application and effect...
Acute abdomen is a series of acute and severe abdominal diseases commonly encountered in clinic. It is important to strengthen the image teaching of acute abdomen for undergraduates....
This study aimed to explore the application effect of SPARK[sub-speciality (S), problem-based learning (P), assessment (A), report (R) and reading skill (K)] teaching mode in the experimental teaching...
We selected a total of 58 third year medical students for observation. The students were divided into experimental group and control group. Among them, 29 students in the experimental group studied in...
The average scores of the experimental group and the control group after theory class were (69.0 ± 26.4) and (72.1 ± 24.1) respectively, with no statistical difference (t = 0.468, P = 0.642). The aver...
The SPARK teaching mode was helpful for undergraduate medical students to consolidate image foundation, improve image reading skills....
The majority of junior doctors in the UK do not proceed directly into specialty training after completing mandatory foundation training but instead take a year out of training. A common post undertake...
CTFs working in Trusts in the West Midlands region registered as students on the Education for Healthcare Professionals Post Graduate Certificate course at the University of Birmingham in August 2019 ...
Nine CTFs participated in an interview. Five main themes were identified which related to their experiences in post and plans for future careers. Participants reported choosing to undertake a CTF role...
This is the first study to use interview methodology to explore experiences of CTFs, and has provided a valuable insight into the experiences of those in post in the West Midlands region. Understandin...
Today, English is the world's main international language and is widely spoken. In this context, the learning of English has long been valued by all countries. In addition, English plays an essential ...
Effective clinical medical student education includes attention to teaching approaches. This study assessed the impact of a new multi-element teaching mode that utilizes Bite-Sized Teaching, flipped c...
A Two-stage crossover design study was conducted of a multi-element teaching mode compared to traditional teaching mode in an academic year. Participants included Ninety-six medical students practicin...
In order to comprehensively test students' performance after study, we take theoretical and practical examinations. The theoretical examination mainly tests students' grasp of basic knowledge points, ...
The new multi-element integrated teaching mode is well accepted by the students and can improve the students' mastery of knowledge, and can improve the students' clinical comprehensive ability. The ne...