Titre : Synaptogyrines

Synaptogyrines : Questions médicales fréquentes

Termes MeSH sélectionnés :

DNA Copy Number Variations
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"https://questionsmedicales.fr/mesh/D062805?mesh_terms=DNA+Copy+Number+Variations&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Synaptogyrines", "description": "Quels sont les symptômes associés aux dysfonctionnements des synaptogyrines ?\nLes troubles moteurs sont-ils liés aux synaptogyrines ?\nLes troubles cognitifs peuvent-ils être causés par des anomalies des synaptogyrines ?\nLes convulsions sont-elles fréquentes avec des problèmes de synaptogyrines ?\nPeut-on observer des changements de comportement liés aux synaptogyrines ?", "url": "https://questionsmedicales.fr/mesh/D062805?mesh_terms=DNA+Copy+Number+Variations&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Synaptogyrines", "description": "Peut-on prévenir les troubles liés aux synaptogyrines ?\nLe dépistage précoce est-il important pour les synaptogyrines ?\nLes conseils génétiques sont-ils recommandés pour les familles ?\nY a-t-il des facteurs environnementaux à surveiller ?\nLes vaccinations peuvent-elles prévenir des troubles neurologiques ?", "url": "https://questionsmedicales.fr/mesh/D062805?mesh_terms=DNA+Copy+Number+Variations&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Synaptogyrines", "description": "Quels traitements sont disponibles pour les troubles liés aux synaptogyrines ?\nLa thérapie génique est-elle une option pour les anomalies des synaptogyrines ?\nLes médicaments peuvent-ils améliorer les symptômes liés aux synaptogyrines ?\nDes interventions chirurgicales sont-elles possibles pour ces troubles ?\nLes thérapies physiques sont-elles bénéfiques pour les patients ?", "url": "https://questionsmedicales.fr/mesh/D062805?mesh_terms=DNA+Copy+Number+Variations&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Synaptogyrines", "description": "Quelles complications peuvent survenir avec des troubles des synaptogyrines ?\nLes troubles de l'humeur sont-ils des complications possibles ?\nLes patients peuvent-ils développer des troubles psychiatriques ?\nLes complications peuvent-elles affecter la qualité de vie ?\nY a-t-il un risque accru de mortalité avec ces troubles ?", "url": "https://questionsmedicales.fr/mesh/D062805?mesh_terms=DNA+Copy+Number+Variations&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Synaptogyrines", "description": "Quels sont les facteurs de risque pour les troubles des synaptogyrines ?\nL'hérédité joue-t-elle un rôle dans les troubles des synaptogyrines ?\nLes infections prénatales peuvent-elles affecter les synaptogyrines ?\nLe stress environnemental est-il un facteur de risque ?\nLes facteurs nutritionnels influencent-ils les troubles des synaptogyrines ?", "url": "https://questionsmedicales.fr/mesh/D062805?mesh_terms=DNA+Copy+Number+Variations&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une anomalie des synaptogyrines ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur des tests génétiques et des analyses de protéines neuronales." } }, { "@type": "Question", "name": "Quels examens sont utilisés pour évaluer les synaptogyrines ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests d'imagerie cérébrale et des biopsies peuvent être réalisés." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils fiables pour les synaptogyrines ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent identifier des mutations spécifiques des synaptogyrines." } }, { "@type": "Question", "name": "Quels symptômes peuvent indiquer un problème avec les synaptogyrines ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des troubles neurologiques, des convulsions ou des retards de développement peuvent survenir." } }, { "@type": "Question", "name": "Peut-on détecter les synaptogyrines par des analyses sanguines ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Non, les synaptogyrines sont principalement étudiées dans le tissu cérébral." } }, { "@type": "Question", "name": "Quels sont les symptômes associés aux dysfonctionnements des synaptogyrines ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des troubles de l'humeur, des problèmes de mémoire et des convulsions." } }, { "@type": "Question", "name": "Les troubles moteurs sont-ils liés aux synaptogyrines ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles moteurs peuvent survenir en raison de dysfonctionnements synaptiques." } }, { "@type": "Question", "name": "Les troubles cognitifs peuvent-ils être causés par des anomalies des synaptogyrines ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies peuvent entraîner des troubles cognitifs et des retards de développement." } }, { "@type": "Question", "name": "Les convulsions sont-elles fréquentes avec des problèmes de synaptogyrines ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les convulsions sont un symptôme courant des dysfonctionnements des synaptogyrines." } }, { "@type": "Question", "name": "Peut-on observer des changements de comportement liés aux synaptogyrines ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des changements de comportement peuvent être observés en cas de dysfonctionnement." } }, { "@type": "Question", "name": "Peut-on prévenir les troubles liés aux synaptogyrines ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de méthodes de prévention spécifiques pour ces troubles." } }, { "@type": "Question", "name": "Le dépistage précoce est-il important pour les synaptogyrines ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un dépistage précoce peut aider à gérer les symptômes et améliorer la qualité de vie." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils recommandés pour les familles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission." } }, { "@type": "Question", "name": "Y a-t-il des facteurs environnementaux à surveiller ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs environnementaux peuvent influencer la santé neurologique, mais peu sont connus." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir des troubles neurologiques ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Certaines vaccinations peuvent prévenir des infections qui affectent le système nerveux." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour les troubles liés aux synaptogyrines ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent des médicaments anticonvulsivants et des thérapies comportementales." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option pour les anomalies des synaptogyrines ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais pas encore largement disponible pour ces troubles." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils améliorer les symptômes liés aux synaptogyrines ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains médicaments peuvent aider à gérer les symptômes neurologiques." } }, { "@type": "Question", "name": "Des interventions chirurgicales sont-elles possibles pour ces troubles ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Les interventions chirurgicales sont rares et réservées aux cas graves de convulsions." } }, { "@type": "Question", "name": "Les thérapies physiques sont-elles bénéfiques pour les patients ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les thérapies physiques peuvent aider à améliorer la motricité et la coordination." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec des troubles des synaptogyrines ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles cognitifs sévères et des problèmes de développement." } }, { "@type": "Question", "name": "Les troubles de l'humeur sont-ils des complications possibles ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles de l'humeur peuvent survenir en raison de dysfonctionnements synaptiques." } }, { "@type": "Question", "name": "Les patients peuvent-ils développer des troubles psychiatriques ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles psychiatriques peuvent être associés à des anomalies des synaptogyrines." } }, { "@type": "Question", "name": "Les complications peuvent-elles affecter la qualité de vie ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent gravement affecter la qualité de vie des patients." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de mortalité avec ces troubles ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certains troubles graves liés aux synaptogyrines peuvent augmenter le risque de mortalité." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour les troubles des synaptogyrines ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs génétiques et environnementaux peuvent augmenter le risque de troubles." } }, { "@type": "Question", "name": "L'hérédité joue-t-elle un rôle dans les troubles des synaptogyrines ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de troubles neurologiques peuvent être un facteur de risque." } }, { "@type": "Question", "name": "Les infections prénatales peuvent-elles affecter les synaptogyrines ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines infections prénatales peuvent influencer le développement neurologique." } }, { "@type": "Question", "name": "Le stress environnemental est-il un facteur de risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le stress environnemental peut contribuer à des troubles neurologiques chez certains individus." } }, { "@type": "Question", "name": "Les facteurs nutritionnels influencent-ils les troubles des synaptogyrines ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, une nutrition inadéquate peut affecter le développement cérébral et synaptique." } } ] } ] }

Sources (10000 au total)

A pan-cancer landscape of pathogenic somatic copy number variations.

Copy number variations (CNVs) play crucial roles in physiological and pathological processes, including cancer. However, the functional implications of somatic CNVs in tumor progression and evolution ... Starting from 7352 copy number profiles across 33 different cancer types, we infer the pathogenicity of each CNV and perform both intra- and inter-tumor analyses to predict the functional impact of di... Our analysis uncovered large heterogeneity among different tumors suggesting in many cases distinct genetic drivers of tumorigenesis. Recurrent genomic alterations frequently coincide with dysfunction... This study contributes to elucidate the functional impact of pathogenic CNVs in tumor progression and sheds light on their potential as prognostic markers in specific cancer types....

Contribution of copy number variations to the risk of severe eating disorders.

Eating disorders (EDs) are complex, multifactorial psychiatric conditions. Previous studies identified pathogenic copy number variations associated with NDDs (NDD-CNVs) in ED patients. However, no sta... Using array comparative genomic hybridization (aCGH), we conducted a high-resolution CNV analysis of 71 severe female ED patients and 1045 female controls. According to the American College of Medical... Of the samples analyzed with aCGH, 70 severe ED patients (98.6%) and 1036 controls (99.1%) passed our quality control filtering. We obtained 189 and 2539 rare CNVs from patients and controls, respecti... Our study provides the first preliminary evidence that NDD-CNVs may confer risk for severe EDs. The pathophysiology may involve synaptic dysfunction....

Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.

Circulating cell-free DNA (cfDNA) is a noninvasive substitute to liver biopsy for hepatocellular carcinoma (HCC) molecular profiling. This study aimed to use cfDNA to investigate copy number variation... Real-Time Polymerase Chain Reaction was used to determine the CNV and cfDNA integrity index in 100 HCC patients.... CNV gain in BCL9 and RPS6KB1 genes was detected in 14% and 24% of patients, respectively. Gain in CNV of BCL9 associated with risk of HCC in alcohol drinkers and hepatitis C seropositivity. In patient... cfDNA was used to detect BCL9 and RPS6KB1 CNVs, which influence prognosis and can be used as independent predictors of HCC patient survival....

Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.

Venous thromboembolism (VTE) is a common disease with high heritability. However, only a small portion of the genetic variance of VTE can be explained by known genetic risk factors. Neutrophil extrace...

Mitochondrial DNA copy number and risk of papillary thyroid carcinoma.

Mitochondrial DNA (mtDNA) copy number is associated with tumor activity and carcinogenesis. This study was undertaken to investigate mtDNA copy number in papillary thyroid cancer (PTC) tissues and to ... DNA was extracted from 105 PTC tissues and 67 control thyroid tissues, and mtDNA copy number mtDNA oxidative damage were determined using qPCR techniques.... Overall, the relative mtDNA copy number was significantly higher in PTC patients (p < 0.001). The risk of developing PTC increased significantly across the tertiles of mtDNA copy number (p trend < 0.0... Our results indicated that the augmentation of mtDNA content plays a significant role during the initiation of thyroid cancer, and it might represent a potential biomarker for predicting the risk of P...

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.

Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated gene... A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively.... First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, re... Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyot...

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.

Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize ... From single nucleotide polymorphism (SNP), gene and region dimensions, we collected 79 informative features that quantitatively describe the characteristics of CNV, such as CNV length, the number of p... The performance of the dbCNV suggest that functional deleteriousness-based model of CNV is a promising approach to support the classification prediction and to further understand the pathogenic mechan...