Comment diagnostique-t-on la myopathie à axe central ?

Le diagnostic repose sur l'examen clinique, l'électromyogramme et la biopsie musculaire.

Quels tests génétiques sont utilisés ?

Des tests génétiques peuvent identifier des mutations dans le gène RYR1, associé à cette myopathie.

Quels signes cliniques sont observés ?

On observe souvent une faiblesse musculaire proximale et des anomalies dans les biopsies musculaires.

L'IRM est-elle utile pour le diagnostic ?

Oui, l'IRM peut montrer des anomalies musculaires caractéristiques de la myopathie à axe central.

Quel rôle joue l'historique familial ?

Un historique familial de myopathies peut orienter le diagnostic vers une origine génétique.

Quels sont les principaux symptômes ?

Les symptômes incluent faiblesse musculaire, fatigue et parfois des douleurs musculaires.

La myopathie affecte-t-elle tous les muscles ?

Elle touche principalement les muscles proximaux, comme ceux des hanches et des épaules.

Y a-t-il des symptômes respiratoires ?

Dans certains cas, la faiblesse musculaire peut affecter les muscles respiratoires.

Les symptômes varient-ils selon l'âge ?

Oui, les symptômes peuvent apparaître dès l'enfance ou à l'âge adulte, selon les cas.

Des troubles de la marche sont-ils fréquents ?

Oui, la faiblesse musculaire peut entraîner des difficultés à marcher ou à se lever.

Peut-on prévenir la myopathie à axe central ?

Étant génétique, il n'existe pas de prévention, mais un diagnostic précoce aide à la gestion.

Le dépistage est-il recommandé ?

Le dépistage génétique peut être conseillé pour les familles à risque de transmission.

Des conseils de vie peuvent-ils aider ?

Des conseils sur l'exercice et la nutrition peuvent améliorer la qualité de vie des patients.

Les activités physiques sont-elles bénéfiques ?

Des activités adaptées peuvent aider à maintenir la force musculaire et la mobilité.

Les consultations régulières sont-elles nécessaires ?

Oui, des suivis réguliers permettent d'ajuster les traitements et surveiller l'évolution.

Quels traitements sont disponibles ?

Il n'existe pas de traitement curatif, mais la physiothérapie aide à maintenir la force musculaire.

Les médicaments sont-ils efficaces ?

Des médicaments peuvent être prescrits pour gérer les symptômes, mais leur efficacité varie.

La chirurgie est-elle une option ?

La chirurgie n'est généralement pas indiquée, sauf pour des complications spécifiques.

Comment la rééducation aide-t-elle ?

La rééducation physique aide à améliorer la fonction musculaire et la qualité de vie.

Y a-t-il des traitements expérimentaux ?

Des essais cliniques explorent des thérapies géniques et des traitements ciblés.

Quelles complications peuvent survenir ?

Les complications incluent des problèmes respiratoires et des déformations musculo-squelettiques.

La myopathie peut-elle affecter la vie quotidienne ?

Oui, la faiblesse musculaire peut limiter les activités quotidiennes et l'autonomie.

Y a-t-il un risque de cardiomyopathie ?

Certaines formes de myopathie peuvent être associées à des problèmes cardiaques.

Les infections sont-elles plus fréquentes ?

Les infections peuvent survenir en raison de la faiblesse musculaire et de l'immobilité.

Comment gérer les complications ?

Une prise en charge multidisciplinaire est essentielle pour gérer les complications.

Quels sont les facteurs de risque génétiques ?

Les antécédents familiaux de myopathies augmentent le risque de développer cette maladie.

L'âge est-il un facteur de risque ?

L'âge d'apparition peut varier, mais les symptômes se manifestent souvent dans l'enfance.

Le sexe influence-t-il le risque ?

Les myopathies peuvent affecter les deux sexes, mais certaines formes sont plus fréquentes chez les hommes.

Des facteurs environnementaux jouent-ils un rôle ?

Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques.

Les maladies associées augmentent-elles le risque ?

Certaines maladies auto-immunes peuvent coexister avec la myopathie, mais leur lien n'est pas direct.

Myopathie à axe central - Informations médicales vérifiées

Effectiveness of a Smartphone App (MINISTOP 2.0) integrated in primary child health care to promote healthy diet and physical activity behaviors and prevent obesity in preschool-aged children: randomized controlled trial.

21 02 2023

DOI: 10.1186/s12966-023-01405-5 PMID: 36810069

Childhood overweight and obesity is a public health priority. We have previously reported the efficacy of a parent-oriented mobile health (mHealth) app-based intervention (MINISTOP 1.0) which showed i... To evaluate the real-world effectiveness of a 6-month mHealth intervention (MINISTOP 2.0 app) on children's intake of fruits, vegetables, sweet and savory treats, sweet drinks, moderate-to-vigorous ph... A hybrid type 1 effectiveness-implementation design was utilized. For the effectiveness outcomes, a two-arm, individually randomized controlled trial was conducted. Parents (n = 552) of 2.5-to-3-year-... Among the participating parents (n = 552, age: 34.1 ± 5.0 years), 79% were mothers and 62% had a university degree. Twenty-four percent (n = 132) of children had two foreign-born parents. At follow-up... Children in the intervention group had lower intakes of sweet and savory treats, sweet drinks, less screen time (primary outcomes) and their parents reported higher PSE for promoting healthy lifestyle... Clinicaltrials.gov NCT04147039; https://clinicaltrials.gov/ct2/show/NCT04147039....

Humans Child, Preschool Child Adult Mobile Applications +5 autres

Comparing Smartphone Virtual Reality Exposure Preparation to Care as Usual in Children Aged 6 to 14 Years Undergoing Magnetic Resonance Imaging: Protocol for a Multicenter, Observer-Blinded, Randomized Controlled Trial.

24 Jan 2023

DOI: 10.2196/41080 PMID: 36692931

A magnetic resonance imaging (MRI) procedure can cause preprocedural and periprocedural anxiety in children. Psychosocial interventions are used to prepare children for the procedure to alleviate anxi... The objective of this study is (1) to develop a VR smartphone intervention to prepare children at home for an MRI procedure; and (2) to examine the effect of the VR intervention in a randomized contro... The VR intervention provides a highly realistic and child-friendly representation of an MRI environment. In this randomized controlled trial, 128 children (aged 6 to 14 years) undergoing an MRI scan w... The VR smartphone preparation app was developed in 2020. The recruitment of participants is expected to be completed in December 2022. Data will be analyzed, and scientific papers will be submitted fo... The VR smartphone app is expected to significantly reduce pre- and periprocedural anxiety in pediatric patients undergoing an MRI scan. The VR app offers a realistic and child-friendly experience that... ISRCTN Registry ISRCTN20976625; https://www.isrctn.com/ISRCTN20976625.... DERR1-10.2196/41080....

Clinic-Integrated Smartphone App (JomPrEP) to Improve Uptake of HIV Testing and Pre-exposure Prophylaxis Among Men Who Have Sex With Men in Malaysia: Mixed Methods Evaluation of Usability and Acceptability.

16 02 2023

DOI: 10.2196/44468 PMID: 36795465

HIV disproportionately affects men who have sex with men (MSM). In Malaysia, where stigma and discrimination toward MSM are high, including in health care settings, mobile health (mHealth) platforms h... We developed an innovative, clinic-integrated smartphone app called JomPrEP, which provides a virtual platform for Malaysian MSM to engage in HIV prevention services. In collaboration with the local c... In total, 50 PrEP-naive MSM without HIV in Greater Kuala Lumpur, Malaysia, were recruited between March and April 2022. Participants used JomPrEP for a month and completed a postuse survey. The usabil... The participants' mean age was 27.9 (SD 5.3) years. Participants used JomPrEP for an average of 8 (SD 5.0) times during 30 days of testing, with each session lasting an average of 28 (SD 38.9) minutes... JomPrEP was found to be a highly feasible and acceptable tool for MSM in Malaysia to access HIV prevention services quickly and conveniently. A broader, randomized controlled trial is warranted to eva... ClinicalTrials.gov NCT05052411; https://clinicaltrials.gov/ct2/show/NCT05052411.... RR2-10.2196/43318....

Male Humans Adult Homosexuality, Male Mobile Applications +5 autres

Efficacy of a smartphone application assisting home-based rehabilitation and symptom management for patients with lung cancer undergoing video-assisted thoracoscopic lobectomy: a prospective, single-blinded, randomised control trial (POPPER study).

21 Jun 2024

DOI: 10.1097/JS9.0000000000001845 PMID: 38905505

Video-assisted thoracoscopic (VATS) lobectomy can affect patients' pulmonary function and quality of life significantly. No optimal protocol combining patient-reported outcome-based symptom management... The app was developed based on three modules: a symptom reporting system with alerts, aerobic and respiratory training exercises, and educational material. Four core symptoms were selected based on a ... Of the 136 participants, 56.6% were women and their mean age was 61 years. The pulmonary function recovery ratio 1 month after surgery in the app group was significantly higher than that in the usual ... Using a smartphone app is an effective approach to accelerate home-based rehabilitation after VATS lobectomy. The symptom alert mechanism of this app could optimise recovery outcomes, possibly driven ...

A Smartphone App Shows Patients Return to Preoperative Gait Metrics 6 Weeks After Hip Arthroscopy, and Gait Metrics Have Low to Moderate Correlations With a Hip-Specific Patient-Reported Outcome Measure.

Oct 2023

DOI: 10.1016/j.asmr.2023.100779 PMID: 37680367

The purpose of this study was to use a smartphone app to collect gait metrics in patients undergoing hip arthroscopy for femoroacetabular impingement syndrome (FAIS) and determine when gait metrics re... Patients undergoing primary hip arthroscopy for FAIS from August 2021 to December 2022 were prospectively enrolled. Patients downloaded the iPhone app, rHip, at ∼6 months postoperatively, enabling ret... Fifty patients (40 women; age: 31.9 ± 14.5 years) were included. Patients had significantly reduced step count from postoperative weeks 1 to 5 and improved upon baseline at weeks 13 and 16 to 26. Pati... A smartphone app was capable of capturing health data gait metrics. Patients undergoing hip arthroscopy for FAIS returned to baseline levels in step count, step length, and walking speed after phase 1... Level IV, case series....

Smartphone application versus written material for smoking reduction and cessation in individuals undergoing low-dose computed tomography (LDCT) screening for lung cancer: a phase II open-label randomised controlled trial.

Jul 2024

DOI: 10.1016/j.lanepe.2024.100946 PMID: 39070744

Counseling, nicotine replacement, and other cessation medications have been proven effective in smoking cessation. The wide-scale adoption of smartphones and other mobile devices has opened new possib... This randomized controlled trial enrolled 201 current smokers with marked smoking history (smoked ≥15 cigarettes/day for ≥25 years or smoked ≥10 cigarettes/day for ≥30 years). Participants were strati... Between Nov 18, 2022, and Apr 14, 2023, 201 patients were screened at Oulu University Hospital, Finland, of whom all were randomly assigned to smartphone application (n = 101) or written cessation mat... The study showed that the developed smartphone application increases the likelihood for smoking cessation in individuals undergoing lung cancer LDCT screening.... AstraZeneca, Roche, and Cancer Foundation Finland....

Exploring the Link Between Smartphone Overdependence, Depression, and Suicidal Behaviors Through the Mediating Effect of Lifestyle Risk Behaviors Among South Korean Adolescents: A Cross-sectional Study Using National Big Data.

18 Jan 2024

DOI: 10.1016/j.pedhc.2023.12.011 PMID: 38244009

This study examined how lifestyle risk behaviors mediate the relationship between smartphone overdependence, depressive symptoms, and suicidal behavior in adolescents.... Based on a secondary analysis of national survey data obtained in 2020 in South Korea, this study had 54,948 participating adolescents. Multiple logistic regression and mediating effect analyses were ... Adolescents' lifestyle risk behaviors partially mediated the link between smartphone overdependence and depression (Z = 6.86, p < .001), suicidal ideation (Z = 7.04, p < .001), and suicidal planning (... This is the first study to examine the mediating role of comprehensive lifestyle behaviors, not single habits, in the relationship between smartphone overdependence, depression, and suicidal behaviors...

Preliminary Efficacy, Feasibility, and Perceived Usefulness of a Smartphone-Based Self-Management System With Personalized Goal Setting and Feedback to Increase Step Count Among Workers With High Blood Pressure: Before-and-After Study.

21 Jul 2023

DOI: 10.2196/43940 PMID: 37477976

High blood pressure (BP) and physical inactivity are the major risk factors for cardiovascular diseases. Mobile health is expected to support patients' self-management for improving cardiovascular hea... The objective of our study was to evaluate the preliminary efficacy, feasibility, and perceived usefulness of an intervention using a novel smartphone-based self-management system (DialBetes Step) in ... On the basis of the Social Cognitive Theory, we developed personalized goal-setting and feedback functions and information delivery functions for increasing step count. Personalized goal setting and f... We analyzed 30 participants (n=19, 63% male; mean age 52.9, SD 5.3 years); 1 (3%) participant dropped out of the intervention. The median percentage of step measurement was 97%. Compared with baseline... DialBetes Step intervention might be a feasible and useful way of increasing workers' step count for a short period and, consequently, improving their BP and BMI; self-efficacy-enhancing techniques of...

Identification of Patients With Elevated Urine Albumin-to-Creatinine Ratio Levels in a Type 2 Diabetes Mellitus Cohort Based on Data Submitted by Patients via a Smartphone App (SMART-Finder): Protocol for an Observational Study.

05 Apr 2023

DOI: 10.2196/44996 PMID: 37018036

Despite effective treatment options, chronic kidney disease (CKD) has become a major cause of mortality worldwide due to the ever-increasing number of patients with type 2 diabetes mellitus (T2DM). Gu... The primary objective of this study is to determine the proportion of patients with T2DM and an elevated urine albumin-to-creatinine ratio (UACR; albumin-to-creatinine ratio stage A2 and A3) at baseli... This is a single-arm, retrospective/prospective, observational, digital, patient-centered cohort study, with recruitment and data documentation via a health app. Required routine laboratory data are p... The enrollment period for this study started in February 2023 and shall end after 12 months or after the enrollment of 5000 patients. An interim analysis is planned 3 months after the inclusion of the... Overall, the study will contribute to minimizing the existing data gap on the prevalence of CKD in patients with T2DM in Germany, provide important insights into the current disease management of pati... PRR1-10.2196/44996....

Comparison of the Effectiveness of Two Management Strategies in the Pandemic COVID-19 Period in Patient Visits (Face-to-Face Visits vs. a Smartphone) in follow-up the Range of Motion of the Knee in Patients with Anterior Cruciate Ligament Reconstruction.

2022

DOI: 10.4103/abr.abr_82_21 PMID: 36660760

As the prevalence of the coronavirus increases, there is now more emphasis on reducing "face-to-face" patient visits. Therefore, the use of smartphones and their special medical applications can play ... From January to December 2020, 112 patients between 20 and 50 years old were randomly selected at our orthopedic sports center. All patients were visited online through smartphone by a knee fellowship... The two groups were similar in terms of mean International Knee Documentation Committee score, Lysholm knee score, and Tegner Knee Score and did not show statistically significant difference (... Smartphone apps are highly effective in assessing postoperative condition of knee ROM after ACLR, especially in the short time. However, this ability has been reduced in evaluating the long term. Henc...

Myopathie à axe central : Questions médicales fréquentes

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