questionsmedicales.fr
Phénomènes génétiques
Variation génétique
Mutation
Aberrations des chromosomes
Aberrations des chromosomes : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Caryotype
Analyse cytogénétique
Hybridation in situ
Séquençage génétique
Échographie prénatale
Anomalies congénitales
Conseil génétique
Tests génétiques
Tests sanguins
Anomalies chromosomiques
Symptômes
5
Malformations congénitales
Retard de développement
Troubles mentaux
Développement intellectuel
Anomalies chromosomiques
Symptômes
Types d'aberrations
Gènes
Fertilité
Fausses couches
Prévention
5
Prévention
Conseil génétique
Dépistage prénatal
Anomalies chromosomiques
Traitements
5
Thérapie génique
Recherche
Médicaments
Gestion des symptômes
Suivi médical
Complications
Interventions précoces
Qualité de vie
Complications
5
Complications
Malformations
Problèmes cardiaques
Malformations cardiaques
Troubles du comportement
Anomalies chromosomiques
Qualité de vie
Complications
Facteurs de risque
5
Facteurs de risque
Âge maternel
Substances toxiques
Risque
Antécédents familiaux
Anomalies chromosomiques
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"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines aberrations chromosomiques sont associées à un risque accru de cancer."
}
},
{
"@type": "Question",
"name": "Les problèmes cardiaques sont-ils fréquents avec ces anomalies ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines aberrations chromosomiques peuvent entraîner des malformations cardiaques."
}
},
{
"@type": "Question",
"name": "Les troubles du comportement sont-ils liés aux aberrations chromosomiques ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent être associés à certaines anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles affecter 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 d'aberrations chromosomiques ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'âge maternel avancé, des antécédents familiaux et des expositions environnementales."
}
},
{
"@type": "Question",
"name": "L'exposition à des substances toxiques augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à des substances toxiques peut augmenter le risque d'anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux d'anomalies chromosomiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Le stress peut-il influencer le risque d'anomalies ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent que le stress peut avoir un impact sur le risque d'anomalies chromosomiques."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse sont-elles un facteur de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections pendant la grossesse peuvent augmenter le risque d'anomalies chromosomiques."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 04/02/2025
Contenu vérifié selon les dernières recommandations médicales
4 publications dans cette catégorie
Affiliations :
Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
Division of Cancer Epidemiology, German Cancer Research Centre (DKFZ), 69120 Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Faculty of Medicine and Biomedical Center in Pilsen, Charles University, 32300 Pilsen, Czech Republic.
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, of the Czech Academy of Sciences, Videnska 1083, 142 00 Prague, Czech Republic.
Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Albertov 4, 128 00 Prague, Czech Republic.
Publications dans "Aberrations des chromosomes" :
4 publications dans cette catégorie
Affiliations :
Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany.
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Obstetrics and Gynaecology, West China Second University Hospital, Sichuan University, No. 20, Section 3, Renminnan Road, Chengdu, 610041, Sichuan, China. huting4123@163.com.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China. huting4123@163.com.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
KBR, Houston, TX 77058, USA.
NASA Johnson Space Center, Houston, TX 77058, USA.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Genetic Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
GeneWerk GmbH, Heidelberg, Germany.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Oncology, Cancer Research Institute, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czechia.
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Prague, Czecia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Czech Academy of Sciences, Prague, Czechia.
First Faculty of Medicine, Institute of Biology and Medical Genetics, Charles University, Prague, Czechia.
Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Prague, Czecia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Department of Biology, Faculty of Medicine, Slovak Medical University, Bratislava, Slovakia.
Publications dans "Aberrations des chromosomes" :
3 publications dans cette catégorie
Affiliations :
Institute of Human Genetics, School of Medicine and University Hospital Bonn, University of Bonn, Bonn, Germany.
Division of Medical Genetics, Department of Biomedicine, University of Basel, Basel, Switzerland.
Publications dans "Aberrations des chromosomes" :
Microvascular and free flap reconstruction are important to the otolaryngology-head and neck surgery practice. Herein, the reader will find an up-to-date discussion of various evidence-based practice ...
Evidence-based practice (EBP) has become a dominant paradigm in North American behavioral health and social service provision. Once a model of expert decision-making that asked practitioners to search...
Evidence-based practice (EBP) significantly improves the quality of healthcare, but its use in community pediatrics has not yet been proven. We aimed to assess how Dutch community pediatricians use sc...
Community pediatricians rely on professional guidelines; this indicates a need to keep these up-to-date and user-friendly. Furthermore, pediatricians should be better trained in performing EBP searche...
• Conducting an evidence-based practice search is considered indispensable to determine the best management of the patient's problem. • Conducting such a search is still considered challenging in many...
• There is a need to strengthen skills of community pediatricians to find evidence on psychosocial problems and to present this effectively in multidisciplinary teams. • The pediatricians' broad use o...
After studying this article, the participant should be able to: 1. Describe the causes and preoperative evaluation of facial paralysis. 2. Discuss techniques to restore corneal sensation and eyelid cl...
Congenital facial paralysis affects 2.7 per 100,000 children; Bell palsy affects 23 per 100,000 people annually; and even more people are affected when considering all other causes. Conditions that im...
The Japanese Society of Gastroenterology first published evidence-based clinical practice guidelines for cholelithiasis in 2010, followed by a revision in 2016. Currently, the revised third edition wa...
Access to valid and reliable instruments is essential in the field of implementation science, where the measurement of factors associated with healthcare professionals' uptake of EBP is central. The N...
To evaluate the content validity of the EBP...
The qualitative interviews with primary healthcare professionals indicated that the content of the EBP...
The EBP...
Retrospectively registered (prior to data analysis) in OSF Preregistration. Registration DOI: https://doi.org/10.17605/OSF.IO/428RP ....
Is the research process different than evidence-based practice and quality improvement, or is it the same? Scattered evidence and misperceptions regarding research, evidence-based practice, and qualit...
Evidence-based practice (EBP) improves the quality of care, decreases healthcare costs, and improves job satisfaction. However, nurses and other clinicians, as well as their institutions, struggle to ...
The aim of this study was to determine the psychometric properties of the new 8-item EBP Mentorship Scale. This scale measures the degree to which clinicians perceive that EBP mentorship is available ...
The EBP Mentorship Scale data were obtained from a previous national cross-sectional descriptive study with 2344 nurses from 19 hospitals and healthcare systems. Descriptive statistics summarized the ...
Cronbach's alpha of the scale was 0.99. A one-factor model was supported by EFA and retained for CFA. Model fit indices for CFA indicated a good fit....
The new EBP Mentorship Scale is valid and reliable and can be used to assess the level of EBP mentorship support available in hospitals and healthcare systems. EBP mentors are key in sustaining an EBP...
To identify the effectiveness of different teaching modalities on student evidence-based practice (EBP) competency....
Electronic searches were conducted in MEDLINE, Cochrane central register of controlled trials, PsycINFO, CINAHL, ERIC, A + Education and AEI through to November 2021. We included randomised-controlled...
Twenty-one studies were included in the review. Overall, no single teaching modality was identified as being superior to others at significantly increasing learner competency in EBP. Changes in learne...
Current evidence highlights the lack of a single teaching modality that is superior than others regarding learner competency in EBP, regardless of health professions discipline or graduate status. The...
Evidence-based practice in radiography is an emerging practice, due to a lack of evidence. Beyond the diagnostic requirements of the examination, imaging technique decisions are guided by the radiogra...
An exploratory descriptive, inductive qualitative interview-based design was used with a convenience sample of radiographers from three public hospital sites in Queensland. Twelve one-on-one semi-stru...
Five themes emerged from the data: advancement of technology; experience rather than evidence; radiology's influence on radiographic practice; information sources; and image quality. The pursuit of im...
The exclusion of research-based evidence can lead to outdated and ineffective clinical decisions. Further work is needed to promote more research in the field of radiography and increase the willingne...