Titre : Monosomie

Monosomie : Questions médicales fréquentes

Termes MeSH sélectionnés :

X-ray Repair Cross Complementing Protein 1
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"MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Monosomie", "description": "Quels traitements sont disponibles pour la monosomie ?\nLa chirurgie est-elle une option ?\nLes médicaments peuvent-ils aider ?\nComment la thérapie comportementale aide-t-elle ?\nY a-t-il des programmes de soutien disponibles ?", "url": "https://questionsmedicales.fr/mesh/D009006?mesh_terms=X-ray+Repair+Cross+Complementing+Protein+1&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Monosomie", "description": "Quelles complications peuvent survenir avec la monosomie ?\nLa monosomie peut-elle affecter la fertilité ?\nY a-t-il un risque accru de cancer ?\nLes troubles neurologiques sont-ils possibles ?\nLa survie est-elle affectée par la monosomie ?", "url": "https://questionsmedicales.fr/mesh/D009006?mesh_terms=X-ray+Repair+Cross+Complementing+Protein+1&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Monosomie", "description": "Quels sont les facteurs de risque de monosomie ?\nLes infections pendant la grossesse augmentent-elles le risque ?\nL'exposition à des toxines est-elle un facteur ?\nLes habitudes de vie influencent-elles le risque ?\nY a-t-il des facteurs génétiques impliqués ?", "url": "https://questionsmedicales.fr/mesh/D009006?mesh_terms=X-ray+Repair+Cross+Complementing+Protein+1&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une monosomie ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par analyse chromosomique, comme le caryotype." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests comme l'analyse de l'ADN et le séquençage peuvent être utilisés." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une monosomie ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des anomalies physiques, retard de développement ou troubles cognitifs peuvent indiquer une monosomie." } }, { "@type": "Question", "name": "La biopsie de villosités choriales est-elle utile ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elle permet de détecter des anomalies chromosomiques pendant la grossesse." } }, { "@type": "Question", "name": "Quel rôle joue l'échographie dans le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "L'échographie peut révéler des malformations congénitales associées à la monosomie." } }, { "@type": "Question", "name": "Quels sont les symptômes courants de la monosomie ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des anomalies physiques, des retards de croissance et des troubles cognitifs." } }, { "@type": "Question", "name": "La monosomie peut-elle causer des problèmes cardiaques ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines formes de monosomie sont associées à des malformations cardiaques." } }, { "@type": "Question", "name": "Y a-t-il des signes de troubles du développement ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des retards dans le langage et les compétences motrices peuvent être observés." } }, { "@type": "Question", "name": "Les troubles comportementaux sont-ils fréquents ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles du comportement et des difficultés d'apprentissage peuvent survenir." } }, { "@type": "Question", "name": "La monosomie affecte-t-elle le système immunitaire ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Certaines formes de monosomie peuvent entraîner une immunodéficience." } }, { "@type": "Question", "name": "Peut-on prévenir la monosomie ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de méthode de prévention, mais un suivi prénatal peut aider à la détection." } }, { "@type": "Question", "name": "Quels conseils pour les femmes enceintes ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Une alimentation équilibrée et des soins prénatals réguliers sont recommandés." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils utiles avant la grossesse ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent aider à évaluer le risque de transmettre des anomalies chromosomiques." } }, { "@type": "Question", "name": "Le dépistage prénatal est-il recommandé ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage prénatal peut identifier des risques de monosomie." } }, { "@type": "Question", "name": "Les antécédents familiaux influencent-ils le risque ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des antécédents familiaux de troubles chromosomiques peuvent augmenter le risque." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour la monosomie ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement est symptomatique et peut inclure des thérapies physiques et éducatives." } }, { "@type": "Question", "name": "La chirurgie est-elle une option ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la chirurgie peut être nécessaire pour corriger certaines malformations physiques." } }, { "@type": "Question", "name": "Les médicaments peuvent-ils aider ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des médicaments peuvent être prescrits pour gérer des symptômes spécifiques, comme l'anxiété." } }, { "@type": "Question", "name": "Comment la thérapie comportementale aide-t-elle ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Elle peut aider à gérer les troubles du comportement et améliorer les compétences sociales." } }, { "@type": "Question", "name": "Y a-t-il des programmes de soutien disponibles ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des programmes de soutien pour les familles et les patients sont souvent disponibles." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la monosomie ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications incluent des malformations congénitales et des troubles de la croissance." } }, { "@type": "Question", "name": "La monosomie peut-elle affecter la fertilité ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, certaines formes de monosomie peuvent entraîner des problèmes de fertilité." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de cancer ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Certaines monosomies sont associées à un risque accru de développer certains cancers." } }, { "@type": "Question", "name": "Les troubles neurologiques sont-ils possibles ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles neurologiques peuvent survenir, affectant le développement cognitif." } }, { "@type": "Question", "name": "La survie est-elle affectée par la monosomie ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "La survie dépend du type de monosomie et des complications associées." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque de monosomie ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "L'âge maternel avancé et des antécédents familiaux de troubles chromosomiques sont des facteurs de risque." } }, { "@type": "Question", "name": "Les infections pendant la grossesse augmentent-elles le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Certaines infections peuvent augmenter le risque de complications chromosomiques." } }, { "@type": "Question", "name": "L'exposition à des toxines est-elle un facteur ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à des toxines environnementales peut augmenter le risque de monosomie." } }, { "@type": "Question", "name": "Les habitudes de vie influencent-elles le risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Des habitudes de vie comme le tabagisme peuvent influencer le risque de complications." } }, { "@type": "Question", "name": "Y a-t-il des facteurs génétiques impliqués ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies génétiques héréditaires peuvent augmenter le risque de monosomie." } } ] } ] }

Sources (10000 au total)

Expression of DNA repair genes and its relevance for DNA repair in peripheral immune cells of patients with posttraumatic stress disorder.

Posttraumatic stress disorder (PTSD) involves elevated levels of cellular oxidative stress which jeopardizes the integrity of essential cell compartments. Previously, we demonstrated higher levels of ...

Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry.

VCP multisystem proteinopathy 1 (MSP1), encompassing inclusion body myopathy (IBM), Paget's disease of bone (PDB) and frontotemporal dementia (FTD) (IBMPFD), features progressive muscle weakness, fatt... DXA scans were obtained in 28 patients to assess body composition parameters (bone mineral density [BMD], T-score, total fat, and lean mass) across different groups: total VCP disease (n = 19), includ... In the VCP disease group, significant declines in left hip BMD and Z-scores were noted versus the control group (p ≤ .03). The VCP disease group showed decreased whole body lean mass % (p = .04), and ... In MSP1, DXA revealed reduced bone and lean mass, and increased fat mass. These DXA insights could aid in monitoring disease progression of muscle loss and secondary osteopenia/osteoporosis in MSP1, p...

Association of base excision repair pathway genes

Reduced efficiency of DNA repair systems has long been a suspected factor in increasing the risk of cancer. In this work authors investigate influence of selected polymorphisms of DNA repair genes (... In group of 324 patients with colorectal cancer the occurrence of polymorphic variants in Ser326Cys of... Studied polymorphisms of... This work shows that patients with CRC not only have an increased level of 8-oG and that the studied polymorphisms modulate risk of cancer, but also indicate a relationship between these 2 phenomena, ...

Expression deregulation of genes related to DNA repair and lead toxicity in occupationally exposed industrial workers.

Globally millions of people working in various industries and are exposed to different toxins which may affect their genetic stability and DNA integrity. Present study was designed to estimate the exp... About 200 blood samples were collected from workers of brick kiln, welding, furniture and paint industry (50/industry) along with age and gender matched controls. mRNA expression of genes was measured... Relative expression of XRCC1 and PARP1 gene was significantly (P < 0.001) upregulated, while ALAD gene expression was downregulated in exposed group compared to control. Expression of XRCC1 and PARP1 ... Present study suggested deregulation of genes related to DNA repair and lead intoxication in exposed group compared to controls. Strong correlation was observed between selected genes and demographic ...