Titre : Régions pseudo-autosomiques

Régions pseudo-autosomiques : Questions médicales fréquentes

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?\nQuels tests sont utilisés pour évaluer les PAR ?\nLes PAR peuvent-ils être détectés par échographie ?\nQuels signes cliniques indiquent une anomalie des PAR ?\nLes tests de dépistage sont-ils recommandés pour les PAR ?", "url": "https://questionsmedicales.fr/mesh/D000071439?page=1000#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Régions pseudo-autosomiques", "description": "Quels symptômes sont associés aux anomalies des PAR ?\nLes anomalies des PAR affectent-elles la croissance ?\nY a-t-il des symptômes psychologiques liés aux anomalies des PAR ?\nLes anomalies des PAR peuvent-elles causer des douleurs ?\nLes anomalies des PAR sont-elles visibles à la naissance ?", "url": "https://questionsmedicales.fr/mesh/D000071439?page=1000#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Régions pseudo-autosomiques", "description": "Comment prévenir les anomalies des PAR ?\nLes vaccinations peuvent-elles prévenir les anomalies des PAR ?\nLe mode de vie influence-t-il les anomalies des PAR ?\nLes tests génétiques préconceptionnels sont-ils utiles ?\nLes conseils nutritionnels aident-ils à prévenir les anomalies ?", "url": "https://questionsmedicales.fr/mesh/D000071439?page=1000#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Régions pseudo-autosomiques", "description": "Quels traitements existent pour les anomalies des PAR ?\nLes traitements sont-ils personnalisés pour chaque patient ?\nLes traitements médicaux sont-ils efficaces pour les anomalies des PAR ?\nY a-t-il des traitements préventifs pour les anomalies des PAR ?\nLes thérapies psychologiques sont-elles recommandées ?", "url": "https://questionsmedicales.fr/mesh/D000071439?page=1000#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Régions pseudo-autosomiques", "description": "Quelles complications peuvent survenir avec les anomalies des PAR ?\nLes anomalies des PAR augmentent-elles le risque de cancer ?\nLes complications psychologiques sont-elles fréquentes ?\nLes anomalies des PAR peuvent-elles affecter la grossesse ?\nY a-t-il des complications à long terme liées aux anomalies des PAR ?", "url": "https://questionsmedicales.fr/mesh/D000071439?page=1000#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Régions pseudo-autosomiques", "description": "Quels sont les facteurs de risque pour les anomalies des PAR ?\nLes facteurs environnementaux influencent-ils les anomalies des PAR ?\nLes maladies génétiques augmentent-elles le risque d'anomalies des PAR ?\nLe mode de vie peut-il affecter le risque d'anomalies des PAR ?\nLes traitements médicaux antérieurs influencent-ils le risque ?", "url": "https://questionsmedicales.fr/mesh/D000071439?page=1000#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une anomalie des PAR ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic se fait par analyse génétique, incluant le caryotype et le séquençage." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour évaluer les PAR ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests incluent le séquençage de l'ADN et l'hybridation in situ fluorescente." } }, { "@type": "Question", "name": "Les PAR peuvent-ils être détectés par échographie ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Non, l'échographie ne peut pas détecter les anomalies des PAR, seule l'analyse génétique le peut." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent une anomalie des PAR ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des signes peuvent inclure des troubles de la fertilité ou des anomalies de développement sexuel." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils recommandés pour les PAR ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage est recommandé pour les couples à risque d'anomalies génétiques." } }, { "@type": "Question", "name": "Quels symptômes sont associés aux anomalies des PAR ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes peuvent inclure des dysfonctionnements hormonaux et des malformations congénitales." } }, { "@type": "Question", "name": "Les anomalies des PAR affectent-elles la croissance ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles peuvent entraîner des retards de croissance et des problèmes de développement." } }, { "@type": "Question", "name": "Y a-t-il des symptômes psychologiques liés aux anomalies des PAR ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Des troubles psychologiques peuvent survenir, notamment l'anxiété et la dépression." } }, { "@type": "Question", "name": "Les anomalies des PAR peuvent-elles causer des douleurs ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent entraîner des douleurs liées à des malformations ou des déséquilibres hormonaux." } }, { "@type": "Question", "name": "Les anomalies des PAR sont-elles visibles à la naissance ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Certaines anomalies peuvent être visibles à la naissance, mais d'autres se manifestent plus tard." } }, { "@type": "Question", "name": "Comment prévenir les anomalies des PAR ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La prévention passe par le conseil génétique et le dépistage prénatal pour les couples à risque." } }, { "@type": "Question", "name": "Les vaccinations peuvent-elles prévenir les anomalies des PAR ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Non, les vaccinations ne préviennent pas les anomalies chromosomiques comme celles des PAR." } }, { "@type": "Question", "name": "Le mode de vie influence-t-il les anomalies des PAR ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Un mode de vie sain peut réduire certains risques, mais ne prévient pas toutes les anomalies." } }, { "@type": "Question", "name": "Les tests génétiques préconceptionnels sont-ils utiles ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils peuvent identifier des risques d'anomalies génétiques chez les futurs parents." } }, { "@type": "Question", "name": "Les conseils nutritionnels aident-ils à prévenir les anomalies ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Une bonne nutrition peut soutenir la santé reproductive, mais ne prévient pas directement les anomalies." } }, { "@type": "Question", "name": "Quels traitements existent pour les anomalies des PAR ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements peuvent inclure des thérapies hormonales et des interventions chirurgicales." } }, { "@type": "Question", "name": "Les traitements sont-ils personnalisés pour chaque patient ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements sont souvent adaptés en fonction des symptômes et des besoins individuels." } }, { "@type": "Question", "name": "Les traitements médicaux sont-ils efficaces pour les anomalies des PAR ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "L'efficacité varie selon le type d'anomalie et la réponse individuelle au traitement." } }, { "@type": "Question", "name": "Y a-t-il des traitements préventifs pour les anomalies des PAR ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, il n'existe pas de traitements préventifs spécifiques pour les anomalies des PAR." } }, { "@type": "Question", "name": "Les thérapies psychologiques sont-elles recommandées ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les thérapies psychologiques peuvent aider à gérer les impacts émotionnels des anomalies." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec les anomalies des PAR ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des problèmes de fertilité, des malformations et des troubles endocriniens." } }, { "@type": "Question", "name": "Les anomalies des PAR augmentent-elles le risque de cancer ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines études suggèrent un lien, mais des recherches supplémentaires sont nécessaires." } }, { "@type": "Question", "name": "Les complications psychologiques sont-elles fréquentes ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications psychologiques comme l'anxiété et la dépression sont courantes." } }, { "@type": "Question", "name": "Les anomalies des PAR peuvent-elles affecter la grossesse ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Elles peuvent entraîner des complications pendant la grossesse, comme des fausses couches." } }, { "@type": "Question", "name": "Y a-t-il des complications à long terme liées aux anomalies des PAR ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des complications à long terme peuvent inclure des problèmes de santé chroniques et des troubles de développement." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour les anomalies des PAR ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent l'âge parental avancé et des antécédents familiaux d'anomalies génétiques." } }, { "@type": "Question", "name": "Les facteurs environnementaux influencent-ils les anomalies des PAR ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'exposition à certaines substances chimiques peut augmenter le risque d'anomalies." } }, { "@type": "Question", "name": "Les maladies génétiques augmentent-elles le risque d'anomalies des PAR ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des maladies génétiques peuvent être associées à un risque accru d'anomalies des PAR." } }, { "@type": "Question", "name": "Le mode de vie peut-il affecter le risque d'anomalies des PAR ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Un mode de vie malsain, comme le tabagisme, peut augmenter le risque d'anomalies génétiques." } }, { "@type": "Question", "name": "Les traitements médicaux antérieurs influencent-ils le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Certains traitements médicaux, comme la chimiothérapie, peuvent affecter le risque d'anomalies." } } ] } ] }

Sources (10000 au total)

Assistive technology needs, access and coverage, and related barriers and facilitators in the WHO European region: a scoping review.

Globally, assistive technology (AT) is used by over 1 billion people, but the prevalence of needs and access to AT in specific countries or regions is largely unknown. This scoping review summarises t... Relevant publications were identified using a combination of two strategies: 1) a systematic search for AT publications in five scientific literature databases; and 2) consultations with 76 of the Reg... The search strategies yielded 103 publications, 62 of them identified by the systematic search. The included publications were predominantly from six countries, and 18 countries were unrepresented. In... Data on AT prevalence and coverage are limited in both quantity and quality. Agreed-upon definitions of functional impairment and assistive product categories and standards for data collection are nee...

Periosteal block versus intravenous regional anesthesia for reduction of distal radius fractures: A randomized controlled trial.

We compare periosteal block and intravenous regional anesthesia (IVRA) as anesthetic techniques for reduction of distal radius fractures when performed by emergency department (ED) clinicians followin... This was a single-center, nonblinded randomized controlled trial of a convenience sample of patients presenting with distal radius fractures requiring closed reduction. Primary outcome measure was pat... Eighty-one patients were randomized to receive IVRA (n = 41) or periosteal block (N = 40). Reduction pain scores were not normally distributed. Median (25th-75th percentile) pain scores in participant... When performed by a diverse group of ED clinicians periosteal block provided inferior analgesia to IVRA but may provide an alternative when IVRA cannot be performed....

Postpartum anaemia in three New Zealand district health board regions: An observational study of incidence and management.

The incidence of postpartum anaemia (PPA) in New Zealand, and the extent of intravenous iron (IV-iron) use in its treatment, are unknown.... To report the incidence of PPA in three district health board (DHB) regions and describe current management of moderate to severe PPA, including by ethnicity.... Retrospective observational study of PPA (haemoglobin (Hb) <100 g/L) in three DHBs from July-December 2019. Cases with moderate to severe PPA (Hb <90 g/L) were reviewed and management compared to loca... There were 8849 women who gave birth during the study period: 4076 (46%) had postpartum Hb testing and 1544 (38%) had PPA. Of those tested, and after adjusting for deprivation and region, European wom... The incidence and management of PPA differs by ethnicity but fewer than half of the women had Hb testing, making precise determination of incidence impossible. The majority of women with Hb <90 g/L re...

Regional and demographic variations of Carotid artery Intima and Media Thickness (CIMT): A Systematic review and meta-analysis.

Carotid artery intima media thickness (CIMT) is a strong predictor of Coronary Heart Disease (CHD) and independent phenotype of early atherosclerosis. The global variation of CIMT and its demographic ... A systematic search was conducted on studies published between 1980 January up to December 2020. PubMed, Oxford Medicine Online, EBSCO, Taylor & Francis, Oxford University Press and Embase data bases ... Of 2847 potential articles, 46 eligible articles were included in the review contributing data for 49 381 individuals (mean age: 55.6 years, male: 55.8%). The pooled mean CIMT for the non-CHD group wa... CIMT varies according to region, age, sex and whether a person having CHD. There are significant regional differences of mean CIMT between CHD and non-CHD groups. Segment specific CIMT variations exis...

Socioeconomic Inequalities in All-Cause and Cause-Specific Mortality Among Patients With Osteoarthritis in the Skåne Region of Sweden.

To assess the association between education and all-cause and cause-specific mortality among patients with osteoarthritis (OA) in comparison to an OA-free reference cohort.... Using data from the Skåne Healthcare Register, we identified all residents age ≥45 years in the region of Skåne in southern Sweden with doctor-diagnosed OA of peripheral joints between 1998 and 2013 (... We found an inverse association between education and mortality. The magnitude of relative inequalities in all-cause mortality were comparable in the OA, with an RII of 1.53 (95% confidence interval [... We found higher all-cause and cause-specific mortality in OA patients with lower education. The observed inequalities in the OA cohort reflect the inequalities in the population at large. The greater ...

Lessons from the frontline: Documenting the pandemic emergency care experience from the Pacific region - Infrastructure and equipment.

The COVID-19 pandemic highlighted challenges for all health systems worldwide. This research aimed to explore the impact of COVID-19 across the Pacific especially with regards to emergency care (EC) a... A collaboration of Australia and Pacific researchers conducted prospective qualitative research over 18 months of the pandemic. In this three phase study data were gathered from Emergency Clinicians a... Pre-existing infrastructure and equipment were not sufficient to help control the pandemic. Adequate space and correct equipment were essential needs for Pacific Island emergency clinicians, with dona... Investing in adequate infrastructure and appropriate equipment is crucial for an effective response to the COVID-19 pandemic. The sustainability of such investments in the Pacific context is paramount... Phases 1 and 2A of this study were part of an Epidemic Ethics/World Health Organization (WHO) initiative, supported by Foreign, Commonwealth and Development Office/Wellcome Grant 214711/Z/18/Z. Co-fun...

Referral rate of chronic kidney disease patients to a nephrologist in the Region of Southern Denmark: results from KidDiCo.

Data on the referral rate of chronic kidney disease (CKD) patients to specialists are sparse. Investigating referral rates and characterizing patients with kidney disease not followed by a nephrologis... Data were extracted from the Kidney Disease Cohort of Southern Denmark (KidDiCo). Referral rates for all incident CKD patients below 60 mL/min/1.73 m² and referral rates according to the KDIGO guideli... A total of 3% of patients with an eGFR <60 mL/min/1.73 m²-16% of patients with an eGFR <30 mL/min/1.73 m² and 35% of patients with an eGFR <15 mL/min/1.73 m² were in contact with a nephrologist in the... Only a small fraction of CKD patients are followed by a nephrologist. More studies should be performed in order to find out which patients will profit the most from renal referral and how to optimize ...