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"headline": "Diagnostic sur Synaptogyrines",
"description": "Comment diagnostiquer une anomalie des synaptogyrines ?\nQuels examens sont utilisés pour évaluer les synaptogyrines ?\nLes tests génétiques sont-ils fiables pour les synaptogyrines ?\nQuels symptômes peuvent indiquer un problème avec les synaptogyrines ?\nPeut-on détecter les synaptogyrines par des analyses sanguines ?",
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"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 ?",
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"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 ?",
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"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 ?",
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"@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."
}
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{
"@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."
}
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{
"@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."
}
}
]
}
]
}
While the Dominantly Inherited Alzheimer Network Trials Unit (DIAN-TU) was ongoing, external data suggested higher doses were needed to achieve targeted effects; therefore, doses of gantenerumab were ...
Using generalized linear mixed effects (LME) models, we estimated the annual low- and high-dose treatment effects in clinical, cognitive, and biomarker outcomes....
Both gantenerumab and solanezumab demonstrated dose-dependent treatment effects (significant for gantenerumab, non-significant for solanezumab) in their respective target amyloid biomarkers (Pittsburg...
Mid-trial dose escalation can be implemented as a remedy for an insufficient initial dose and can be more cost effective and less burdensome to participants than starting a new trial with higher doses...
We evaluated the dose-dependent treatment effect of two different amyloid-specific immunotherapies.Dose-dependent treatment effects were observed in some biomarkers.No dose-dependent treatment effects...
Large databases permit quantitative description of genes in terms of intolerance to loss of function ('haploinsufficiency') and prevalence of missense variants. We explored these parameters in inherit...
IRD genes (from the 'RetNet' resource) were classified by probability of loss of function intolerance (pLI) using online Genome Aggregation Database (gnomAD) and DatabasE of genomiC varIation and Phen...
Of 280 analysed genes, 39 (13.9%) were predicted loss of function intolerant. A greater proportion of X-linked than autosomal IRD genes fulfilled these criteria, as expected. Most autosomal genes were...
A minority of IRD-associated genes appear to be 'haploinsufficient'. Over-representation of spliceosome pathways was observed. When interpreting genetic tests, variants found in genes with over-repres...
Retinoblastoma is a pediatric intraocular cancer caused by biallelic inactivation of RB1 gene in retinal progenitor cells. Here, we report the generation of a patient-specific induced pluripotent stem...
The widespread consensus is that genotyping is essential for patients with inherited retinal disease (IRD). Given the numerous ongoing gene therapy clinical trials for IRDs, identifying the pathogenic...
We conducted a retrospective analysis of data between November 2016 and March 2018 from the Duke Center for Retinal Degenerations and Ophthalmic Genetic Diseases IRD patient database, which encompasse...
By judiciously using this two-way approach and leveraging to its full potential the benefits of careful, in-depth clinical-functional phenotyping by an experienced IRD specialist, more than 80% of the...
The combination of meticulous, expert clinical-functional phenotyping studies with systematic next-generation sequencing panel-based genotyping and microarray deletion/duplication testing or CNV analy...
Maternally inherited diabetes and deafness (MIDD) is often caused by the m.3243A > G mutation in mitochondrial DNA. Unfortunately, the characteristics of MIDD, especially long-term outcomes and hetero...
Alport syndrome is one of the most common inherited kidney diseases worldwide. A genetic test or kidney biopsy is necessary for a definite diagnosis of this disease, and an accurate diagnosis system f...
The group conducted an online survey among the members of AsPNA in 2021-2022. Collected data included the number of patients for each inheritance mode, availability of gene tests or kidney biopsy, and...
A total of 165 pediatric nephrologists from 22 countries in Asia participated. Gene test was available in 129 institutes (78%), but the cost was still expensive in most countries. Kidney biopsy was av...
This study result might suggest that the system is underdeveloped enough to diagnose all Alport syndrome patients in most Asian countries. However, once diagnosed with Alport syndrome, most of them we...
An increasing number of gene-specific therapies are being developed for inherited retinal degenerations (IRDs). Identification of well-characterized patients is an emerging need. We conducted the seco...
An electronic survey questionnaire was developed and sent to 124 clinical centers (25 countries) by June/July 2021. Statistical analysis was performed with Excel and R....
The overall response rate was 44% but varied among countries. Only 9% of responding centers do not see IRD patients (2019 survey 14%), 42% follow at least 200 patients per year, 18% follow 500-999, an...
This second multinational survey on management of IRDs in Europe highlights persistent important differences in the number of IRD patients managed per center, comparable diagnostic work-up, and increa...
The angiotensin-converting enzyme (ACE) has been shown to play a role as a receptor for the COVID-19 virus. This virus usually gets into cells and infects them by attaching to their glycoprotein recep...
Haploidentical stem cell transplantation (haplo-SCT) represents the main alternative for children with inherited bone marrow failure syndrome (I-BMF) lacking a matched donor. This retrospective study,...