Titre : Maladie de Menkès

Maladie de Menkès : Questions médicales fréquentes

Termes MeSH sélectionnés :

Normal Distribution
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"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=Normal+Distribution&page=1000#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=Normal+Distribution&page=1000#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=Normal+Distribution&page=1000#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=Normal+Distribution&page=1000#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)

Distribution pattern of iron deposition in the basal ganglia of different motor subtypes of Parkinson's disease.

The quantitative susceptibility mapping (QSM) technique was used to analyze the distribution pattern of iron deposition in the basal ganglia region of patients with motor subtypes of Parkinson's disea... The study included 76 patients with PD and 37 healthy controls (HC). Patients with PD were divided into two groups: postural instability/gait disorder (PIGD)(n = 48), and tremor dominance (TD)(n = 28)... (1) Compared with the HC, the bilateral SN in the PD-PIGD and TD group showed greater susceptibility values. The susceptibility values in the left CN, bilateral PUT were also greater in the PD-PIGD gr... There were different iron deposition patterns in the basal ganglia between the PD-PIGD and TD groups. There also seems to be a difference in iron deposition in PD motor subtypes on different major mot...

A Physiologically Based Pharmacokinetic Model to Predict Determinants of Variability in Epirubicin Exposure and Tissue Distribution.

Epirubicin is an anthracycline antineoplastic drug that is primarily used in combination therapies for the treatment of breast, gastric, lung and ovarian cancers and lymphomas. Epirubicin is administe... In vitro experiments were conducted to determine the kinetics of epirubicin glucuronidation by human liver microsomes in the presence and absence of validated UGT2B7 inhibitors. A full physiologically... Multivariable linear regression modelling demonstrated that variability in simulated systemic epirubicin exposure following intravenous injection was primarily driven by differences in hepatic and ren... The present study describes the development and evaluation of a full-body PBPK model to assess systemic and individual organ exposure to epirubicin. Variability in epirubicin exposure was primarily dr...

Is red distribution width a valid tool to predict impaired iron transport in heart failure?

Impaired iron transport (IIT) is a form of iron deficiency (ID) defined as transferrin saturation (TSAT) < 20% irrespective of serum ferritin levels. It is frequently observed in heart failure (HF) wh... In this retrospective study we searched for a surrogate biomarker of IIT.... We tested the predictive power of red distribution width (RDW), mean corpuscular volume (MCV) and mean corpuscular haemoglobin concentration (MCHC) to detect IIT in 797 non-anaemic HF patients.... At ROC analysis, RDW provided the best AUC (0.6928). An RDW cut-off value of 14.2% identified patients with IIT, with positive and negative predictive values of 48 and 80%, respectively. Comparison be... RDW may be seen as a reliable marker to exclude IIT in non-anaemic HF patients with eGFR ≥60 ml/min/1.73 m...

The gut microbiome and regional fat distribution: Findings from the Baltimore Longitudinal Study of Aging.

The aim of this study was to examine associations of gut microbiome diversity and composition with directly measured regional fat distribution, including central fat, in a large community-based cohort... A cross-sectional investigation was conducted in the Baltimore Longitudinal Study of Aging (N = 815, 55.2% female, 65.9% White). The fecal microbiome was assessed using whole-genome shotgun metagenomi... Trunk fat, leg fat, BMI, and waist circumference all significantly explained similar amounts of variance in microbiome structure. Differential abundance testing identified 11 bacterial species signifi... Microbiome diversity and composition, in particular higher abundance of Ruminococcus gnavus, were associated with greater trunk fat, in addition to other measures of obesity. Longitudinal studies are ...

Distribution and associated factors of intraocular pressure in the older population: Tehran Geriatric Eye Study.

To determine the distribution and associated factors of intraocular pressure (IOP) in an Iranian elderly population 60 years of age and above.... The present report is part of the Tehran Geriatric Eye study (TGES), a population-based cross-sectional study that was conducted on the residents of Tehran 60 years of age and above. The sampling was ... The data of 3892 eyes of 2124 individuals were analyzed for this report. The mean age of the study participants was 66.49±5.31y (range: 60 to 95y). The mean IOP was 15.2 mm Hg (95%CI: 15.1 to 15.4), 1... The present study presents the distribution of IOP in an Iranian elderly population. A higher IOP (within the range 14 to 17 mm Hg) is significantly associated with older age, male sex, high systolic ...