questionsmedicales.fr
Phénomènes génétiques
Structures génétiques
Génome
Exome
Exome : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Séquençage de l'ADN
Génétique médicale
Maladies génétiques
Diagnostic génétique
Mutations génétiques
Analyse génomique
Symptômes
5
Symptômes
Maladies génétiques
Asymptomatique
Mutations génétiques
Prédiction
Analyse génomique
Maladies génétiques
Symptômes
Évolution des symptômes
Maladies génétiques
Prévention
5
Dépistage génétique
Prévention
Conseil génétique
Prévention
Dépistage prénatal
Génétique
Traitements
5
Thérapie génique
Traitements médicaux
Médecine personnalisée
Traitements
Maladies génétiques
Traitements
Médecine personnalisée
Traitements médicaux
Essais cliniques
Thérapie génique
Complications
5
Complications
Maladies génétiques
Prévision
Mutations génétiques
Traitements
Complications
Complications
Maladies génétiques
Qualité de vie
Complications
Facteurs de risque
5
Facteurs de risque
Hérédité
Environnement
Mutations génétiques
Antécédents médicaux
Facteurs de risque
Tests génétiques
Facteurs de risque
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"name": "Quels résultats peut-on attendre d'une analyse d'exome ?",
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"text": "On peut identifier des mutations pathogènes ou des variations génétiques significatives."
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"name": "L'exome peut-il aider au diagnostic de cancers ?",
"position": 5,
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"@type": "Question",
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"text": "L'analyse peut aider à anticiper des symptômes en fonction des mutations identifiées."
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"@type": "Question",
"name": "Les symptômes sont-ils spécifiques à l'exome ?",
"position": 9,
"acceptedAnswer": {
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"text": "Non, les symptômes dépendent de la maladie sous-jacente et ne sont pas spécifiques à l'exome."
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"@type": "Question",
"name": "Les symptômes peuvent-ils évoluer avec le temps ?",
"position": 10,
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"text": "Oui, certains symptômes peuvent s'aggraver ou apparaître avec l'âge ou d'autres facteurs."
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"@type": "Question",
"name": "Peut-on prévenir les maladies liées à l'exome ?",
"position": 11,
"acceptedAnswer": {
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"@type": "Question",
"name": "Le conseil génétique est-il utile ?",
"position": 12,
"acceptedAnswer": {
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}
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"name": "Les changements de mode de vie peuvent-ils aider ?",
"position": 13,
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"position": 14,
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"position": 15,
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"name": "Quels traitements sont disponibles pour les mutations de l'exome ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements varient, incluant thérapies géniques, médicaments ciblés ou soins symptomatiques."
}
},
{
"@type": "Question",
"name": "L'exome influence-t-il le choix du traitement ?",
"position": 17,
"acceptedAnswer": {
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"text": "Oui, l'analyse de l'exome peut guider le choix des traitements personnalisés."
}
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{
"@type": "Question",
"name": "Peut-on guérir les maladies liées à l'exome ?",
"position": 18,
"acceptedAnswer": {
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"text": "Certaines maladies peuvent être traitées efficacement, mais beaucoup restent incurables."
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{
"@type": "Question",
"name": "Les traitements sont-ils adaptés à chaque patient ?",
"position": 19,
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"text": "Oui, les traitements sont souvent personnalisés en fonction des résultats de l'exome."
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"name": "Y a-t-il des essais cliniques pour les mutations de l'exome ?",
"position": 20,
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"text": "Oui, de nombreux essais cliniques explorent de nouveaux traitements pour ces mutations."
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"@type": "Question",
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"position": 21,
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{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être anticipées en fonction des mutations identifiées."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être traitées ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées avec des traitements appropriés, d'autres non."
}
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{
"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines mutations peuvent entraîner des complications chroniques ou progressives."
}
},
{
"@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 pour les mutations de l'exome ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'hérédité, l'âge parental avancé et des antécédents familiaux."
}
},
{
"@type": "Question",
"name": "L'environnement influence-t-il les mutations ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines expositions environnementales peuvent augmenter le risque de mutations génétiques."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents médicaux familiaux de maladies génétiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils identifier les risques ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests peuvent révéler des prédispositions génétiques à certaines maladies."
}
},
{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains facteurs, comme le mode de vie, peuvent être modifiés pour réduire les risques."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 21/02/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Oncology, McGill University, Montreal, QC, Canada.
Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada.
Department of Medical Genetics, The Research Institute of the McGill University Health Centre, Montreal, QC, Canada.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD 21205, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
McKusick-Nathans Department of Genetic Medicine, Baylor Hopkins Center for Mendelian Genomics, Baltimore, MD 21205, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
The Genetic Institute of Maccabi Health Services, Rehovot, Israel.
School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Bioinformatics Unit, Cancer Research Center, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Centre, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands. christian.gilissen@radboudumc.nl.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610075, P.R. China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Key Laboratory of Sichuan Province Ophthalmopathy Prevention & Cure and Visual Function Protection, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Eye School of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610075, P.R. China.
Department of Ophthalmology, Ineye Hospital of Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Key Laboratory of Sichuan Province Ophthalmopathy Prevention & Cure and Visual Function Protection, Chengdu University of Traditional Chinese Medicine, Chengdu, Sichuan 610032, P.R. China.
Department of Ophthalmology, Beijing Anzhen Hospital, Capital Medical University, Beijing 100006, P.R. China.
Publications dans "Exome" :
2 publications dans cette catégorie
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Departments of Molecular and Human Genetics and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Faculty of Science, Department of Biochemistry, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
Division of Nephrology, Department of Medicine, Columbia University Irving Medical Center, NewYork-Presbyterian, New York, New York.
Publications dans "Exome" :
2 publications dans cette catégorie
Affiliations :
Institute for Genomic Medicine, Columbia University Medical Center, New York, New York.
Publications dans "Exome" :
To review the current literature on the multiple types and uses of progestins in reproductive healthcare....
Progestins for contraceptive use are available in multiple forms, with the ongoing development of transdermal, intravaginal, and male contraception formulations. Noncontraceptive use of progestins oft...
Progestins have multiple uses in reproductive healthcare, including contraception, menstrual suppression, endometrial protection, and hormonal replacement therapy. The development of progestins for th...
Numerous studies have confirmed a strong association between progestins and meningiomas and the regression and/or stabilization of meningiomas after discontinuation of treatment. Osteomeningiomas repr...
Thirty-six patients (mean age 49.5 years) who presented with at least one progestin-related osteomeningioma (48 tumors total) were identified from a prospectively collected database of patients and ha...
For half of the 36 patients, treatment was prescribed for signs of hyperandrogenism, such as hirsutism, alopecia, or acne. Most lesions were spheno-orbital (35.4%) or frontal (31.2%). Although the tis...
These results show that while the soft intracranial part of progestin-related osteomeningioma tumor is the most likely to regress after treatment discontinuation, the bony part is more likely to incre...
To estimate trends in use and outcomes of progestin therapy for premenopausal patients with endometrial intraepithelial neoplasia....
The MarketScan Database was used to identify patients aged 18-50 years with endometrial intraepithelial neoplasia from 2008 to 2020. Primary treatment was classified as hysterectomy or progestin-based...
A total of 3,947 patients were identified. Hysterectomy was performed in 2,149 (54.4%); progestins were used in 1,798 (45.6%). Use of progestins increased from 44.2% in 2008 to 63.4% in 2020 ( P =.002...
The rate of conservative treatment with progestins in premenopausal individuals with endometrial intraepithelial neoplasia has increased over time, and among progestin users, progestin-releasing IUD u...
Although several studies suggest beneficial effects of low-dose estrogen-progestins (LEPs) and progestins on dysmenorrhea in Japanese women, the difference in efficacy between drugs remains unknown....
We identified studies by searching the MEDLINE, Cochrane Library, and ICHUSHI databases and included randomized controlled trials (RCTs) that used total dysmenorrhea score and visual analogue scale (V...
We identified 10 articles on eight RCTs and included seven drugs (six LEPs and one progestin, i.e., dienogest) and placebo in the analysis. Meta-analysis showed improvements in total dysmenorrhea scor...
We confirmed that LEPs and dienogest are effective for primary and secondary dysmenorrhea and suggest that continuous regimens may be more effective than cyclic regimens in improving outcomes....
Progestin based therapy is the preferred option for fertility-sparing treatment of reproductive-age women with preserved fertility in endometrial hyperplasia (EH) or early endometrial cancer (EEC). Ou...
We conducted a meta-analysis of randomized or non-randomized controlled trials by searching of PubMed, Embase, Web of science, and Cochrane database from inception to November 8, 2022. The results of ...
In the analysis of progestin administered systemically or locally, complete response (CR) was significantly higher in progestin plus metformin versus progestin alone in the EH group (pooled OR 2.08, 9...
For fertility-sparing management, compared to progestin alone, the outcomes of patients with endometrial hyperplasia and early endometrial cancer were more improved with progestin plus metformin becau...
This is a protocol for a Cochrane Review (intervention). The objectives are as follows: To evaluate the effectiveness, safety, and side effects associated with the usage of different treatments for un...
Gestodene (GES), altrenogest (ALT), and medroxyprogesterone acetate (MPA) are three potent synthetic progestins detected in agricultural soils; however, their biotransformation outcomes in soils remai...
Endometriosis is a complex chronic disease that affects approximately 10% of women of reproductive age worldwide and commonly presents with pelvic pain and infertility....
A systematic review of the literature was carried out using the databases Pubmed, Scopus, Cochrane and ClinicalTrials.gov in women with a confirmed laparoscopic diagnosis of endometriosis receiving pr...
Eighteen studies were included in the meta-analysis. Progestins improved painful symptoms compared to placebo (SMD = -0.61, 95% CI (-0.77, -0.45), P < 0.00001) with no comparable differences between t...
The meta-analysis revealed that pain improvement significantly increased with the use of progestins with low adverse effects....
PROSPERO CRD42021285026....
Altrenogest (ALT), drospirenone (DRO), and melengestrol acetate (MLA) are three highly potent synthetic progestins that can be released into agricultural soils, while their fate in soil minerals remai...
Synthetic progestins are micropollutants of special concern, due to their growing use in human and veterinary therapies and their risks to aquatic life. Currently, there is a lack of environmental inf...