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
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Maladies génétiques
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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
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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": "Les complications sont-elles prévisibles ?",
"position": 22,
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"position": 23,
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"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 24,
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"text": "Oui, certaines mutations peuvent entraîner des complications chroniques ou progressives."
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"@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."
}
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{
"@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."
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{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils identifier les risques ?",
"position": 29,
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"text": "Oui, les tests peuvent révéler des prédispositions génétiques à certaines maladies."
}
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{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 30,
"acceptedAnswer": {
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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 evaluate long-term outcomes of staged volume rehabilitation for acquired anophthalmos....
Case-note review of patients who had preceding i) eye removal without implant, ii) eye removal with an intraconal implant, but ball-related problems, or iii) removal of exposed implant. Secondary inte...
Secondary volume-augmenting surgery was performed in 175 sockets at a mean age of 42.7 years (range 2-91), with 62% secondary ball implants, 3% dermis-fat grafts, 6% ball repositioning, 19% ball repla...
Over half of the sockets having planned 2-stage volume enhancement may need further procedures, especially after small-volume secondary implants, but, with meticulous surgery, reasonable long-term res...
To analyse the ocularist's perspective on the management of the anophthalmic socket and external ocular prosthesis (EOP)....
Ocularists from two countries were invited to participate in an online questionnaire. Data were collected on demographics, anophthalmic socket and EOP management (manufacturing, use, cleaning), compli...
The questionnaire was addressed to 20 Brazilian and 17 Spanish ocularists, obtaining a response rate of 65% and 64.7%, respectively. 62.5% of respondents were men. The most common cause of anophthalmi...
Although there are no unified protocols on the management of EOPs, Brazilian and Spanish ocularists follow similar guidelines. Differences between countries were the patients´ referral and the prosthe...
Anophthalmia and microphthalmia (A/M) are among the most severe congenital developmental eye disorders. Despite the advancements in genome screening technologies, more than half of A/M patients do not...
The possible complications of anophthalmic eye sockets can occur due to many different pathomechanisms. A differentiation is made between allergic, infectious, inflammatory or mechanical causes. This ...
To compare tear film osmolarity (TFO) values and matrix metalloproteinase 9 (MMP-9) levels between anophthalmic sockets and healthy fellow eyes and to assess the use of the MMP-9 and TFO as objective ...
In this prospective single-center study, the anophthalmic sockets and healthy fellow eyes of 98 unilateral anophthalmic patients were assessed using the ocular surface disease index (OSDI) questionnai...
Patients had significantly higher OSDI, MMP-9, and TFO values, as well as higher conjunctival inflammation on the anophthalmic side, compared to the healthy side (p ≤ 0.002, respectively). For anophth...
Measuring MMP-9 and TFO may be helpful tools as efficient, quantifiable biomarkers, disease course parameters, or predictors for treatment response in the clinical management of patients with DASS or ...
To study the impact of the prosthesis motility on the Quality of Life (QoL) in anophthalmic patients....
Cross-sectional, observational study of 100 anophthalmic patients, of whom 64% had an acryl implant, 6% an Allen implant, 1% a hydroxyapatite implant, 4% a dermis fat graft, 16% no implant, and 9% an ...
Motility of the prosthesis was impaired with an average loss of 76%, and correlated with Cosmetic satisfaction (adduction...
Ocular prosthetic motility has a significant impact on patient-perceived satisfaction and physical appearance, and predicts coping with the prosthetic condition on the psychosocial level. This highlig...
Anophthalmia and microphthalmia (A/M) are rare birth defects affecting up to 2 per 10,000 live births. These conditions are manifested by the absence of an eye or reduced eye volumes within the orbit ...
Eyelid and orbital deformities caused by various defects, such as tumor resection and trauma, whether congenital or acquired, are extremely complex and atypical. Several classifications systems for th...
Cryptophthalmos is a rare congenital condition caused by anomalous eyelid development where the eyelid folds do not develop or fail to separate. Cryptophthalmos can be unilateral or bilateral and can ...
We performed a retrospective medical record review of all patients diagnosed with cryptophthalmos followed at a single center between 2000 and 2020. The analysis included medical history, clinical exa...
Thirteen patients were included, 10 (77%) males, mean age of 2.4 years. Eight (61%) had bilateral cryptophthalmos, and 4 (31%) had complete cryptophthalmos. Associated ocular abnormalities included co...
This is the first report of a possible association between cryptophthalmos and biallelic...
To explore the changes of bacterial flora in anophthalmic patients wearing ocular prosthesis (OP) and the microbiome diversity in conditions of different OP materials....
A cross-sectional clinical study was conducted, involving 19 OP patients and 23 healthy subjects. Samples were collected from the upper, lower palpebral, caruncle, and fornix conjunctiva. 16S rRNA seq...
The diversity and richness of ocular flora in OP patients were significantly higher than that in healthy subjects. The results of flora species analysis also indicated that in OP patients, pathogenic ...
The ocular flora of OP patients was significantly different from that of healthy people. Abundant colonization of pathogenic microorganisms may have an important potential relationship with eye discom...