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"name": "Diagnostic",
"headline": "Diagnostic sur Protéines intrinsèquement désordonnées",
"description": "Comment diagnostiquer une maladie liée aux IDP ?\nQuels tests sont utilisés pour les IDP ?\nLes IDP peuvent-elles être détectées par imagerie ?\nY a-t-il des biomarqueurs pour les IDP ?\nLes tests génétiques aident-ils pour les IDP ?",
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"description": "Quelles complications peuvent survenir avec les IDP ?\nLes IDP peuvent-elles entraîner des maladies chroniques ?\nY a-t-il des risques de récidive avec les IDP ?\nLes IDP peuvent-elles affecter la qualité de vie ?\nLes IDP sont-elles liées à des troubles mentaux ?",
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"name": "Facteurs de risque",
"headline": "Facteurs de risque sur Protéines intrinsèquement désordonnées",
"description": "Quels sont les facteurs de risque pour les IDP ?\nL'hérédité joue-t-elle un rôle dans les IDP ?\nL'exposition à des toxines influence-t-elle les IDP ?\nLe mode de vie affecte-t-il le risque d'IDP ?\nLes infections peuvent-elles être un facteur de risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer une maladie liée aux IDP ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests biochimiques et des analyses protéomiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour les IDP ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des techniques comme la spectroscopie RMN et la chromatographie sont courantes."
}
},
{
"@type": "Question",
"name": "Les IDP peuvent-elles être détectées par imagerie ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, l'imagerie ne détecte pas directement les IDP, mais peut montrer des effets cellulaires."
}
},
{
"@type": "Question",
"name": "Y a-t-il des biomarqueurs pour les IDP ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines IDP peuvent servir de biomarqueurs, mais cela reste en recherche."
}
},
{
"@type": "Question",
"name": "Les tests génétiques aident-ils pour les IDP ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests génétiques peuvent identifier des mutations, mais pas spécifiquement les IDP."
}
},
{
"@type": "Question",
"name": "Quels symptômes sont associés aux IDP ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient selon la maladie, incluant fatigue, douleurs et troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Les IDP causent-elles des troubles neurologiques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines IDP sont liées à des maladies neurodégénératives comme Alzheimer."
}
},
{
"@type": "Question",
"name": "Les IDP sont-elles liées à des cancers ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines IDP sont impliquées dans la régulation tumorale et peuvent favoriser le cancer."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans IDP ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, de nombreux symptômes peuvent être causés par d'autres facteurs non liés aux IDP."
}
},
{
"@type": "Question",
"name": "Les IDP provoquent-elles des douleurs articulaires ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies associées aux IDP peuvent entraîner des douleurs articulaires."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les maladies liées aux IDP ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un mode de vie sain peut réduire les risques."
}
},
{
"@type": "Question",
"name": "L'alimentation influence-t-elle les IDP ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée peut soutenir la santé cellulaire, mais ne prévient pas directement les IDP."
}
},
{
"@type": "Question",
"name": "Le stress affecte-t-il les IDP ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le stress peut exacerber les symptômes, mais ne cause pas directement les IDP."
}
},
{
"@type": "Question",
"name": "L'exercice physique aide-t-il avec les IDP ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exercice régulier peut améliorer la santé générale et réduire certains symptômes."
}
},
{
"@type": "Question",
"name": "Les contrôles médicaux réguliers sont-ils importants ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des contrôles réguliers peuvent aider à détecter précocement des problèmes liés aux IDP."
}
},
{
"@type": "Question",
"name": "Comment traiter les maladies liées aux IDP ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement dépend de la maladie spécifique et peut inclure médicaments et thérapies."
}
},
{
"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques pour les IDP ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de médicaments spécifiques, mais des traitements ciblent les symptômes."
}
},
{
"@type": "Question",
"name": "La thérapie génique aide-t-elle avec les IDP ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche pour certaines maladies liées aux IDP."
}
},
{
"@type": "Question",
"name": "Les traitements naturels sont-ils efficaces pour les IDP ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains traitements naturels peuvent soulager les symptômes, mais manquent de preuves solides."
}
},
{
"@type": "Question",
"name": "La physiothérapie aide-t-elle avec les IDP ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à gérer les symptômes et améliorer la qualité de vie."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec les IDP ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques, des cancers et des maladies auto-immunes."
}
},
{
"@type": "Question",
"name": "Les IDP peuvent-elles entraîner des maladies chroniques ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines IDP sont associées à des maladies chroniques comme la fibromyalgie."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de récidive avec les IDP ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies liées aux IDP peuvent avoir des risques de récidive, selon le cas."
}
},
{
"@type": "Question",
"name": "Les IDP peuvent-elles affecter la qualité de vie ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les IDP peuvent gravement affecter la qualité de vie en raison des symptômes chroniques."
}
},
{
"@type": "Question",
"name": "Les IDP sont-elles liées à des troubles mentaux ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent un lien entre IDP et troubles mentaux, mais les recherches continuent."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les IDP ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des prédispositions génétiques, l'âge et des facteurs environnementaux."
}
},
{
"@type": "Question",
"name": "L'hérédité joue-t-elle un rôle dans les IDP ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines IDP ont une composante héréditaire, augmentant le risque de maladies."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines influence-t-elle les IDP ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'exposition à certaines toxines peut augmenter le risque de maladies liées aux IDP."
}
},
{
"@type": "Question",
"name": "Le mode de vie affecte-t-il le risque d'IDP ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie malsain, comme le tabagisme, peut augmenter le risque de maladies liées aux IDP."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles être un facteur de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines infections virales sont associées à un risque accru de maladies liées aux IDP."
}
}
]
}
]
}
Osteoarthritis (OA) is marked by the progressive degradation of joint cartilage and subchondral bone. The precise molecular mechanisms driving meniscus deterioration in OA, especially at the single-ce...
We analyzed two datasets from the GEO database, GSE220243 and GSE98918, focusing on meniscus tissue sequencing data from OA and non-OA patients. The standard Seurat procedure was employed to process s...
After quality control, 34,763 cells from the OA patients and 34,145 cells from the healthy controls were analyzed. UMAP identified and SingleR annotated 14 cell clusters. The 10 largest cell clusters ...
This research highlights crucial genes in the OA meniscus and uncovers their differing regulatory patterns between chondrocytes and non-chondrocytes. These findings enhance our understanding of the mo...
(1) Purpose: Retrospective back-to-back comparisons were performed to evaluate the accuracy, effectiveness, and incremental yield of chromosome microarray analysis (CMA) and exome sequencing (ES) anal...
Down syndrome (DS) is the most common congenital cause of intellectual disability and also leads to numerous metabolic and structural problems. This study aims to explore the application value of chro...
The study recruited 1452 pregnant women with abnormal DS screening results including 493 with an enlarged nuchal translucency thickness (NT ≥ 2.5 mm) and 959 with an abnormal second-trimester maternal...
CMA identified 74/1452 abnormal results, which was more efficient than karyotyping (51/1452, P < 0.05.) CMA is equivalent to traditional karyotyping for identifying aneuploidies. Compared to karyotypi...
CMA and karyotyping have both advantages and disadvantages in prenatal diagnosis of pregnant women with abnormal DS screening results. However, there was not enough evidence to support routine CMA in ...
Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine...
We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands referred for evaluation of IEI. The analysis included primary, secondary, and incidental findings....
Of the 332 probands, 134 (40.4%) received molecular diagnoses. Of these, 116/134 (86.6%) were diagnosed by ES alone. An additional 15/134 (11.2%) were diagnosed by CMA alone, including two likely...
Pairing ES and CMA can provide a comprehensive evaluation to clarify the complex factors that contribute to both immune and non-immune phenotypes. Such a combined approach to genetic testing helps unt...
The aim of this study was to investigate the contribution of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) to genetic diagnosis in fetuses with normal karyotype who underw...
The results of invasive genetic testing performed at a tertiary center between September 2020 and March 2022 were retrospectively analyzed. Indications for invasive tests were classified as fetal stru...
A total of 830 invasive tests were performed and aneuploidy was detected in 11.2% of the fetuses. CMA was performed in 465 fetuses with normal karyotype, and pCNVs were detected in 6.9%. pCNVs were de...
pCNVs can be significantly detected not only in fetuses with structural malformations, but also in invasive testing with other indications. NGS significantly contributes to genetic diagnosis in fetuse...
Chromosomal microarray analysis (CMA) may detect variants of uncertain clinical significance (VUS) and susceptibility loci (SL) with incomplete penetrance for neurodevelopmental disorders. This qualit...
Semi-structured interviews were conducted with women who received a VUS and/or SL from prenatal CMA in the last 2-4 years and were analyzed using Grounded Theory....
The vast majority of women recalled being stressed by the findings. All women sought further advice and information to be able to decide whether to continue or terminate their pregnancy. The three pre...
Although uncertain/probabilistic information commonly involves a psychological burden, it may also be perceived as valuable and actionable. Pre-test parental choice regarding the disclosure of such in...
Aneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known a...
A total of 90 RAAs were detected, of which 83 cases were mosaic trisomies and 7 were non-mosaic trisomies. Chromosomes 16, 22, and 9 were identified as the major chromosomes involving RAAs. The four p...
Variable phenotypes and outcomes were observed, which were highly heterogeneous in cases of prenatal RAAs. Thus, a cautious and comprehensive strategy should be implemented during prenatal counseling ...
Alzheimer's disease is a prevalent health problem with a heavy global burden. Definitely diagnosed by autopsy, the clear mechanism of Alzheimer's disease pathogenesis process needs to be illustrated. ...
We attempted to discover the role of microRNA in Alzheimer's disease by microarray bioinformatics analysis using autopsy sample data from the GEO database. Temporal cortex samples were included in thi...
After filtering out significantly differential expressed microRNAs and genes, enrichment analyses of both microRNAs and genes were conducted, respectively. Then, we constructed a transcription factor-...
Hsa-miR-365b-5p act as a key target in Alzheimer's disease. It regulates Alzheimer's disease pathogenesis process via neuroinflammation, Wnt and oxidative stress pathway which provides a potential tar...
Background: There are few studies on the detection rate by chromosomal microarray analysis (CMA) of the prenatal diagnosis of talipes equinovarus (TE) compared to conventional karyotyping. We aimed to...
(1) Objective: To evaluate the application of chromosomal microarray analysis (CMA) in fetuses with pulmonary atresia (PA) and to explore the risk factors for predicting chromosomal imbalances and adv...