Titre : Maladie de Menkès

Maladie de Menkès : Questions médicales fréquentes

Termes MeSH sélectionnés :

C-Reactive Protein
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"headline": "Diagnostic sur Maladie de Menkès", "description": "Comment diagnostique-t-on la maladie de Menkès ?\nQuels tests génétiques sont utilisés ?\nLes analyses de cheveux sont-elles utiles ?\nQuels signes cliniques indiquent cette maladie ?\nÀ quel âge se manifeste la maladie ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=C-Reactive+Protein&page=8#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Maladie de Menkès", "description": "Quels sont les symptômes principaux ?\nLes problèmes neurologiques sont-ils fréquents ?\nY a-t-il des problèmes de croissance ?\nLes cheveux sont-ils affectés ?\nDes problèmes dentaires sont-ils associés ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=C-Reactive+Protein&page=8#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Maladie de Menkès", "description": "Peut-on prévenir la maladie de Menkès ?\nLe dépistage 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comportementaux sont-ils fréquents ?\nDes problèmes cardiaques peuvent-ils se développer ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=C-Reactive+Protein&page=8#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Maladie de Menkès", "description": "Quels sont les facteurs de risque connus ?\nLa maladie est-elle plus fréquente chez certains sexes ?\nLes parents porteurs sont-ils à risque ?\nY a-t-il des facteurs environnementaux ?\nLes consanguinités augmentent-elles le risque ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=C-Reactive+Protein&page=8#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostique-t-on la maladie de Menkès ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'examen clinique, l'analyse des cheveux et des tests génétiques." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests de séquençage de l'ADN peuvent identifier des mutations dans le gène ATP7A." } }, { "@type": "Question", "name": "Les analyses de cheveux sont-elles utiles ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Oui, elles montrent des anomalies typiques, comme des cheveux frisés et cassants." } }, { "@type": "Question", "name": "Quels signes cliniques indiquent cette maladie ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Des retards de développement, des troubles neurologiques et des cheveux anormaux sont des indicateurs." } }, { "@type": "Question", "name": "À quel âge se manifeste la maladie ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes apparaissent généralement dans les premiers mois de la vie." } }, { "@type": "Question", "name": "Quels sont les symptômes principaux ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des cheveux frisés, des retards de développement et des convulsions." } }, { "@type": "Question", "name": "Les problèmes neurologiques sont-ils fréquents ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles neurologiques comme l'hypotonie et des crises convulsives sont courants." } }, { "@type": "Question", "name": "Y a-t-il des problèmes de croissance ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les enfants peuvent présenter un retard de croissance et un développement physique anormal." } }, { "@type": "Question", "name": "Les cheveux sont-ils affectés ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, ils sont souvent frisés, cassants et de couleur pâle, d'où le nom de la maladie." } }, { "@type": "Question", "name": "Des problèmes dentaires sont-ils associés ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies dentaires peuvent également survenir chez les patients atteints." } }, { "@type": "Question", "name": "Peut-on prévenir la maladie de Menkès ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La maladie étant génétique, il n'existe pas de prévention, mais un dépistage peut aider." } }, { "@type": "Question", "name": "Le dépistage prénatal est-il possible ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le dépistage prénatal peut identifier des mutations génétiques chez le fœtus." } }, { "@type": "Question", "name": "Les parents porteurs peuvent-ils être testés ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les tests génétiques peuvent déterminer si les parents sont porteurs de la mutation." } }, { "@type": "Question", "name": "Des conseils génétiques sont-ils disponibles ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques." } }, { "@type": "Question", "name": "Les vaccinations sont-elles recommandées ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les vaccinations sont recommandées pour prévenir d'autres infections." } }, { "@type": "Question", "name": "Quel est le traitement principal ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement consiste en des suppléments de cuivre pour compenser le déficit." } }, { "@type": "Question", "name": "Les traitements sont-ils efficaces ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements peuvent améliorer certains symptômes, mais ne guérissent pas la maladie." } }, { "@type": "Question", "name": "Y a-t-il des thérapies complémentaires ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Des thérapies physiques et occupationnelles peuvent aider au développement moteur." } }, { "@type": "Question", "name": "Les soins palliatifs sont-ils nécessaires ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des soins palliatifs peuvent être requis pour gérer les symptômes avancés." } }, { "@type": "Question", "name": "Les transfusions sanguines sont-elles utiles ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Non, les transfusions ne sont pas un traitement pour la maladie de Menkès." } }, { "@type": "Question", "name": "Quelles sont les complications possibles ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des troubles neurologiques graves et des problèmes de croissance." } }, { "@type": "Question", "name": "La maladie affecte-t-elle la vie quotidienne ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients peuvent avoir besoin d'assistance pour les activités quotidiennes." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de mortalité ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la maladie de Menkès peut réduire l'espérance de vie en raison de complications." } }, { "@type": "Question", "name": "Les troubles comportementaux sont-ils fréquents ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des troubles du comportement peuvent survenir en raison de l'atteinte neurologique." } }, { "@type": "Question", "name": "Des problèmes cardiaques peuvent-ils se développer ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des anomalies cardiaques peuvent être associées à la maladie de Menkès." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque connus ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs de risque incluent des antécédents familiaux de la maladie et des mutations génétiques." } }, { "@type": "Question", "name": "La maladie est-elle plus fréquente chez certains sexes ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la maladie de Menkès affecte principalement les garçons en raison de son mode de transmission." } }, { "@type": "Question", "name": "Les parents porteurs sont-ils à risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les parents porteurs de mutations dans le gène ATP7A peuvent transmettre la maladie." } }, { "@type": "Question", "name": "Y a-t-il des facteurs environnementaux ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Actuellement, aucun facteur environnemental n'est clairement associé à la maladie." } }, { "@type": "Question", "name": "Les consanguinités augmentent-elles le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les unions consanguines peuvent augmenter le risque de transmission de la maladie." } } ] } ] }

Sources (10000 au total)

C-reactive protein elevation is associated with increased morbidity and mortality in elderly burned patients.

C-reactive protein (CRP) is an acute-phase protein produced in response to inflammation after traumatic injury. We posit that C-reactive protein (CRP) is reliable in predicting morbidity and mortality... Using the Research Network within the TriNetX database, we queried de-identified burn patient data across the United States and enrolled 36,556 burn patients with reported CRP values from 2006 to 2020... Circulating CRP levels were elevated significantly in patients ≥60 years as well as in males and African Americans (p < 0.05). CRP levels reached the zenith on the first day after burn, and were highe... Elevated CRP expression is common in burn patients. The factor of age influenced the association of CRP expression to clinical outcomes....

C-reactive protein and the neutrophil-to-lymphocyte ratio on admission predicting bacteraemia with COVID-19.

Bacteraemia can co-occur with COVID-19. The present study aimed to determine the cut-off value for C-reactive protein (CRP) and the neutrophil-to-lymphocyte ratio (NLR) for predicting bacteraemia in p... Patients admitted to Tokyo Metropolitan Tama Medical Centre for COVID-19 treatment between 1 April 2020 and 30 October 2022 were included. Patients transferred from other hospitals and those whose CRP... Among 2989 patients hospitalized for COVID-19 treatment, 19 received the diagnosis of community-acquired bacteraemia, for which CRP ≥ 6.3 was determined to be the cut-off value. The sensitivity and sp... Considering the possibility of the co-occurrence of bacteraemia with COVID-19, a blood culture should be performed when CRP is ≥ 6.3 or the NLR is ≥ 7.7....

Simulated effects of ferritin screening on C-reactive protein levels in recruited blood donors.

Ferritin is commonly measured to evaluate iron stores in the body. Some countries have added or considered adding ferritin lower bounds to donor eligibility criteria. Ferritin is also elevated by infl... To simulate recruitment of new blood donors, we selected participants from two Finnish general population cohorts, namely FINRISK 1997 (n = 5369) and Health 2000 (n = 3278), that would likely fulfil t... We found that for several ferritin cut-offs the proportion of potential donors with CRP > 3 mg/L would rise by a statistically significant amount. The trend was significant and similar for all subgrou... Our results show that screening a population of potential blood donors with ferritin cut-offs raises the number of people with CRP > 3 mg/L within the blood donor population....

Lymphocyte-to-C-Reactive Protein Ratio as an Early Sepsis Biomarker for Neonates with Suspected Sepsis.

Neonatal sepsis is an extremely dangerous and fatal disease among neonates, and its timely diagnosis is critical to treatment. This research is aimed at evaluating the clinical significance of the lym... Between January 2016 and December 2021, 1269 neonates suspected of developing sepsis were included in this research. Among them, sepsis was diagnosed in 819 neonates, with 448 severe cases, as per the... LCR decreased significantly in the control, mild, and severe sepsis groups. Further analyses exhibited that there was a substantially greater incidence of sepsis in neonates in the low-LCR group (LCR ... LCR has proven to be a potentially strong biomarker capable of identifying sepsis in a timely manner in neonates suspected to have the disease....

Prognostic value of C-reactive protein to albumin ratio for mortality in acute kidney injury.

Inflammation plays an important role in the development of acute kidney injury (AKI). However, there are few studies exploring the prognostic influence of C-reactive protein to albumin ratio (CAR) amo... A total of 358 AKI patients were extracted from the Medical Information Mart for Intensive Care III (MIMIC III) database. C-reactive protein (CRP) and albumin were measured at ICU admission. The clini... Compared with patients in the survival group, nonsurvivors had higher CAR levels. The area under the receiver operating characteristic (ROC) curve of CAR was higher than that of CRP and albumin for mo... Our study demonstrated that a higher level of CAR was associated with 365-day mortality in AKI patients....

C-reactive protein levels could be a prognosis predictor of prostate cancer: A meta-analysis.

The relationship between the C-reactive protein (CRP) and prognosis in prostate cancer (PCa) has been widely discussed over the past few years but remains controversial.... In our meta-analysis, we searched 16 reliable studies in the PubMed, Embase, and Cochrane Library databases. Otherwise, we have successfully registered on the INPLASY. We also performed random- and fi... The result of our meta-analysis shows that elevated CRP levels were related to worse overall survival (OS) (HR = 1.752, 95% CI = 1.304-2.355,... Our study shows that the level of CRP could reflect the prognosis of prostate cancer patients. We find that PCa patients with high levels of CRP often have worse OS, CSS, and PFS, although the stages ...

C-Reactive Protein-to-Albumin Ratio as an Early Biomarker to Identify Sepsis in Neonates with Pneumonia.

Neonates with pneumonia often also have sepsis, and the identifying sepsis from pneumonia may be a challenge for clinicians. However, there are no available data regarding the clinical value C-reactiv... 847 neonates with pneumonia were included in this study, of which 511 neonates were diagnosed with sepsis. Neonates were divided into the sepsis group and the nonsepsis group. All neonates underwent e... Compared with the nonsepsis group, neonates with sepsis have a higher CAR (... CAR can be used as a new marker to identify sepsis in neonates with pneumonia....