Titre : Maladie de Menkès

Maladie de Menkès : Questions médicales fréquentes

Termes MeSH sélectionnés :

Robotics
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cette maladie ?\nÀ quel âge se manifeste la maladie ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Robotics&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=Robotics&page=1000#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Maladie de Menkès", "description": "Peut-on prévenir la maladie de Menkès ?\nLe dépistage prénatal est-il possible ?\nLes parents porteurs peuvent-ils être testés ?\nDes conseils génétiques sont-ils disponibles ?\nLes vaccinations sont-elles recommandées ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Robotics&page=1000#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Maladie de Menkès", "description": "Quel est le traitement principal ?\nLes traitements sont-ils efficaces ?\nY a-t-il des thérapies complémentaires ?\nLes soins palliatifs sont-ils nécessaires ?\nLes transfusions sanguines sont-elles utiles ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Robotics&page=1000#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Maladie de Menkès", "description": "Quelles sont les complications possibles ?\nLa maladie affecte-t-elle la vie quotidienne ?\nY a-t-il un risque accru de mortalité ?\nLes troubles comportementaux sont-ils fréquents ?\nDes problèmes cardiaques peuvent-ils se développer ?", "url": "https://questionsmedicales.fr/mesh/D007706?mesh_terms=Robotics&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=Robotics&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)

Interactive mirrOring Games wIth sOCial rObot (IOGIOCO): a pilot study on the use of intransitive gestures in a sample of Italian preschool children with autism spectrum disorder.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by persistent deficits in social communication, social interaction, and restricted behaviors. The importance of early inte... We developed a training protocol using the humanoid robot NAO, called IOGIOCO (Interactive mirroring Games wIth sOCial rObot), based on the use of intransitive gestures embedded in naturalistic dialog... We demonstrated the tolerability of the protocol. We found that one group (n=4, males and 2 females) reached the training level, while another and group (n=6 males) remained at a familiarization level... While current results will need a Randomized Controlled Trial to be confirmed, the present work sets an important milestone in using social robots for ASD treatment, aimed at impacting social and comm...

Minimising warm ischaemia time during robot-assisted partial nephrectomy. A video-based assessment of tumour excision, kidney reconstruction and intermediate time.

Surgical video review is an emerging tool for assessing patient outcomes, especially in complex surgeries such as robot-assisted partial nephrectomy (RAPN). Assessing and measuring warm ischaemia time... We evaluated 32 surgical video recordings from patients undergoing RAPN and measured WIT, ExcT, RecT and IntT with a stopwatch. Factors such as tumour characteristics and surgeon experience were also ... We recorded a median WIT of 1,048 s (17 min and 28 s). The median of ExcT, RecT and IntT was 398 s (37.1% of WIT), 518 s (46.7% of WIT) and 180 s (16.2% of WIT), respectively. We found a significant c... Tumour morphology influences all surgical times, and surgeon experience influences only ExcT. We observed a short RecT during RAPN though at the cost of increased ExcT, and we believe that improving s...

Membranous urethral length is the single independent predictor of urinary continence recovery at 12 months following Retzius-sparing robot-assisted radical prostatectomy.

The influence of anatomical parameters on urinary continence (UC) after Retzius-sparing robot-assisted radical prostatectomy (RS-RARP) remains uncharted. Our objective was to evaluate their associatio...

Enhanced recovery after surgery day surgery for MAKO® robotic-arm assisted TKA; better outcome for patients, improved efficiency for hospitals.

Robotic-assisted Total Knee Arthroplasty (TKA) was designed to improve implant position accuracy by providing surgeons with real-time intra-operative data to tailor the operation to the patient. Propo... All patients who had undergone unilateral MAKO® ERAS Day Surgery TKA from August 2020 to July 2021 were prospectively followed up and matched to patients who underwent conventional ERAS Day Surgery TK... 42 patients underwent MAKO® ERAS Day surgery TKA and were matched to 42 patients who underwent conventional ERAS Day surgery TKA. The study found that despite the longer surgical duration, LOS was com... ERAS Day Surgery protocol can significantly reduce the LOS of patient undergoing MAKO® Robotic-arm Assisted TKA, conferring cost savings and making it a valid option for patients....

Safety and Efficacy of a Novel Miniaturized Robotic Assisted Surgery System in Colectomy: A Prospective, Investigational Device Exemption Clinical Study Using the IDEAL Framework.

Robotics has increased rates of minimally invasive surgery, with distinct advantages over open surgery. However, current commercially available robotic platforms have device and system issues that lim... To demonstrate the safety and efficacy of a novel miniaturized robotic assisted surgery device in colectomy.... Prospective, Investigational Device Exemption clinical study following the idea, development, exploration, assessment, and long-term follow-up (IDEAL) framework (Stage 2b, exploration).... Three centers with high-volume robotic colorectal cases and surgeons.... Patients scheduled for a right or left colectomy for benign or malignant disease.... Colectomy with the novel miniaturized robotic assisted surgery device.... For safety, intraoperative and device-related adverse events and 30-day morbidity. For efficacy, successful completion of pre-defined procedural steps without conversion.... Thirty patients (13 female, 17 male) were analyzed. The mean age was 59.4 (SD 13.4) years. Seventy percent (n = 21) were overweight/obese and 53.3% (n = 16) had prior abdominal surgery. Forty percent ... Single arm study, short-term follow-up.... This first clinical study of a novel miniaturized robotic-assisted surgery device along the IDEAL framework demonstrated it was safe and effective. Given this success, further assessment and long-term...

Lower Intraoperative and Immediate Postoperative Complications in Robotic Versus Conventional Primary Total Hip Arthroplasty: A Retrospective Cohort Analysis of Over 360,000 Patients.

Although a trend of an improved alignment with robotic total hip arthroplasty (THA) over conventional methods has surfaced from recent series, it is unknown whether these results translate into meanin... Records were extracted from 2016-2019 from the National Inpatient Sample (NIS) database Healthcare Cost and Utilization Project which is the largest in-patient database in the United States. From 367,... Demographic distributions between robotic and conventional THA groups displayed similar age and sex characteristics. Shorter mean lengths of stay (1.87 days) were seen in robotic THA versus convention... Evidence has emerged from our results to support more routine adaptation of the robotic option of performing a THA. These can be based on lower local, systemic, and mechanical complications as demonst...

The Combined Effect of Robot Assisted Therapy and Activities of Daily Living Training on Upper Limb Recovery in Persons with Subacute Stroke: A Randomized Controlled Trial.

To evaluate the effectiveness of robot-assisted therapy (RAT) followed by activities of daily living (ADL) training in comparison with conventional rehabilitation therapy (CRT) and ADL training in ind... A single-blind, two-arm, parallel-group, open-level, randomized controlled trial.... A tertiary care teaching hospital in India PARTICIPANTS: Forty-four persons (n=44) with first-ever stroke (in subacute stage) were enrolled from August 2021, to July, 2023.... Participants in the RAT group (n=22) received RAT for 30 minutes, followed by ADL training for 30 minutes. In contrast, participants in the CRT group (n=22) received CRT (30 minutes) followed by ADL t... Primary outcome: Motor domain score of the Fugl-Meyer Assessment scale for upper extremity (FMA-UE).... the other domains scores of FMA-UE (UL -sensation, -joint motions, -joint pain); Modified Ashworth Scale (MAS) (spasticity); hand-function (HF) and ADL-domain scores of the stroke impact scale (SIS); ... Persons who received RAT and ADL training reported significant improvement (p<0.05) in UL motor function [Mean difference (MD)=3.54;(95% confidence interval (CI): 1.28 to 5.79)], UL passive joint moti... The findings indicate that RAT followed by ADL training is more effective than CRT followed by ADL training in motor improvement, hand functions, ADL, and QOL at 12 weeks....

Comparison of Short-term and Three-year Oncological Outcomes Between Robotic and Laparoscopic Gastrectomy for Gastric Cancer: A Large Multi-center Cohort Study.

To compare the short- and long-term outcomes between robotic gastrectomy (RG) and laparoscopic gastrectomy (LG) for gastric cancer.... The clinical outcomes of RG over LG have not yet been effectively demonstrated.... This retrospective cohort study included 3,599 patients with gastric cancer who underwent radical gastrectomy at eight high-volume hospitals in China from August 2016 to June 2019. Propensity score ma... After 1:1 PSM, 1034 pairs of patients were enrolled in a balanced cohort for further analysis. The 3-year DFS in the RG and LG was 83.7% and 83.1% (P=0.745), respectively, and the 3-year overall survi... For resectable gastric cancer, including advanced cases, RG is a safe approach with comparable 3-year oncological outcomes to LG when performed by experienced surgeons....

Case report: Robotically visualized and biopsy-confirmed peritoneal carcinomatosis as initial identification of metastatic prostate adenocarcinoma in a patient with a history of prostatic urethral lift.

Peritoneal carcinomatosis is a particularly rare presentation of prostate cancer. Here we report a rare clinical case of surgically identified peritoneal carcinomatosis at the time of a planned roboti... A 72-year-old man, with a history of urinary retention managed with tamsulosin, presented to his local urologist. Prostatic urethral lift procedures were performed for symptom management. After a defi... Our patient, diagnosed with peritoneal carcinomatosis during a planned RALP, highlights the importance of vigilant laparoscopic exam prior to this prostatectomy. Multidisciplinary discussion is crucia...