Titre : beta-Mannosidase

beta-Mannosidase : Questions médicales fréquentes

Termes MeSH sélectionnés :

Pilot Projects
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"datePublished": "2025-05-17", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur beta-Mannosidase", "description": "Comment diagnostiquer une déficience en beta-Mannosidase ?\nQuels tests sont utilisés pour mesurer la beta-Mannosidase ?\nQuels symptômes indiquent un besoin de test ?\nLa beta-Mannosidase est-elle mesurable dans l'urine ?\nQuel rôle joue la génétique dans le diagnostic ?", "url": "https://questionsmedicales.fr/mesh/D044902?mesh_terms=Pilot+Projects&page=2#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur beta-Mannosidase", "description": "Quels sont les symptômes d'une déficience en beta-Mannosidase ?\nLes symptômes varient-ils selon l'âge ?\nY a-t-il des symptômes spécifiques aux enfants ?\nLes symptômes sont-ils réversibles ?\nDes symptômes neurologiques sont-ils fréquents ?", "url": "https://questionsmedicales.fr/mesh/D044902?mesh_terms=Pilot+Projects&page=2#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur beta-Mannosidase", "description": "Peut-on prévenir la déficience en beta-Mannosidase ?\nLe dépistage néonatal est-il recommandé ?\nLes conseils génétiques sont-ils utiles ?\nY a-t-il des tests prénataux disponibles ?\nComment sensibiliser à cette condition ?", "url": "https://questionsmedicales.fr/mesh/D044902?mesh_terms=Pilot+Projects&page=2#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur beta-Mannosidase", "description": "Quel est le traitement principal pour la déficience en beta-Mannosidase ?\nLa thérapie génique est-elle une option ?\nDes médicaments spécifiques sont-ils disponibles ?\nComment gérer les symptômes au quotidien ?\nLes régimes alimentaires peuvent-ils aider ?", "url": "https://questionsmedicales.fr/mesh/D044902?mesh_terms=Pilot+Projects&page=2#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur beta-Mannosidase", "description": "Quelles complications peuvent survenir ?\nLes complications sont-elles évitables ?\nY a-t-il un risque accru de maladies associées ?\nLes complications affectent-elles la qualité de vie ?\nComment surveiller les complications ?", "url": "https://questionsmedicales.fr/mesh/D044902?mesh_terms=Pilot+Projects&page=2#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur beta-Mannosidase", "description": "Quels sont les facteurs de risque connus ?\nLa consanguinité augmente-t-elle le risque ?\nLes mutations génétiques sont-elles un facteur ?\nLes facteurs environnementaux jouent-ils un rôle ?\nLes antécédents médicaux influencent-ils le risque ?", "url": "https://questionsmedicales.fr/mesh/D044902?mesh_terms=Pilot+Projects&page=2#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une déficience en beta-Mannosidase ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un diagnostic se fait par des tests enzymatiques et des analyses génétiques." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour mesurer la beta-Mannosidase ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Des tests sanguins ou des biopsies tissulaires peuvent être utilisés pour mesurer l'activité enzymatique." } }, { "@type": "Question", "name": "Quels symptômes indiquent un besoin de test ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Des symptômes comme des troubles neurologiques ou des problèmes digestifs peuvent indiquer un test." } }, { "@type": "Question", "name": "La beta-Mannosidase est-elle mesurable dans l'urine ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Non, la beta-Mannosidase est principalement mesurée dans le sang ou les tissus." } }, { "@type": "Question", "name": "Quel rôle joue la génétique dans le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Des mutations génétiques spécifiques peuvent être identifiées pour confirmer le diagnostic." } }, { "@type": "Question", "name": "Quels sont les symptômes d'une déficience en beta-Mannosidase ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent des retards de développement, des troubles cognitifs et des problèmes digestifs." } }, { "@type": "Question", "name": "Les symptômes varient-ils selon l'âge ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les symptômes peuvent apparaître dès l'enfance ou à l'âge adulte, selon la gravité." } }, { "@type": "Question", "name": "Y a-t-il des symptômes spécifiques aux enfants ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les enfants peuvent présenter des retards de langage et des difficultés d'apprentissage." } }, { "@type": "Question", "name": "Les symptômes sont-ils réversibles ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Non, les symptômes ne sont généralement pas réversibles sans traitement approprié." } }, { "@type": "Question", "name": "Des symptômes neurologiques sont-ils fréquents ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des symptômes neurologiques comme des convulsions peuvent survenir." } }, { "@type": "Question", "name": "Peut-on prévenir la déficience en beta-Mannosidase ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "La déficience est génétique, donc la prévention n'est pas possible, mais le dépistage peut aider." } }, { "@type": "Question", "name": "Le dépistage néonatal est-il recommandé ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Le dépistage néonatal pour cette condition n'est pas systématique, mais peut être envisagé." } }, { "@type": "Question", "name": "Les conseils génétiques sont-ils utiles ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission." } }, { "@type": "Question", "name": "Y a-t-il des tests prénataux disponibles ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Des tests prénataux peuvent être effectués pour détecter des anomalies génétiques." } }, { "@type": "Question", "name": "Comment sensibiliser à cette condition ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "La sensibilisation peut se faire par des campagnes d'information et des ressources éducatives." } }, { "@type": "Question", "name": "Quel est le traitement principal pour la déficience en beta-Mannosidase ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement curatif, mais des soins symptomatiques peuvent être offerts." } }, { "@type": "Question", "name": "La thérapie génique est-elle une option ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "La thérapie génique est en recherche, mais n'est pas encore disponible pour cette condition." } }, { "@type": "Question", "name": "Des médicaments spécifiques sont-ils disponibles ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Aucun médicament spécifique n'est approuvé pour traiter cette déficience enzymatique." } }, { "@type": "Question", "name": "Comment gérer les symptômes au quotidien ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Une approche multidisciplinaire incluant des thérapies physiques et éducatives est recommandée." } }, { "@type": "Question", "name": "Les régimes alimentaires peuvent-ils aider ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Un régime alimentaire spécifique peut aider à gérer certains symptômes, mais pas la maladie." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Des complications neurologiques, digestives et de développement peuvent survenir." } }, { "@type": "Question", "name": "Les complications sont-elles évitables ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être gérées, mais pas toutes peuvent être évitées." } }, { "@type": "Question", "name": "Y a-t-il un risque accru de maladies associées ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les patients peuvent avoir un risque accru de troubles métaboliques et neurologiques." } }, { "@type": "Question", "name": "Les complications affectent-elles la qualité de vie ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications peuvent significativement affecter la qualité de vie des patients." } }, { "@type": "Question", "name": "Comment surveiller les complications ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Une surveillance régulière par des professionnels de santé est essentielle pour gérer les complications." } }, { "@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 déficience enzymatique." } }, { "@type": "Question", "name": "La consanguinité augmente-t-elle le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, la consanguinité peut augmenter le risque de transmission de la déficience." } }, { "@type": "Question", "name": "Les mutations génétiques sont-elles un facteur ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des mutations spécifiques dans le gène MANBA sont liées à la déficience en beta-Mannosidase." } }, { "@type": "Question", "name": "Les facteurs environnementaux jouent-ils un rôle ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Non, la déficience en beta-Mannosidase est principalement d'origine génétique." } }, { "@type": "Question", "name": "Les antécédents médicaux influencent-ils le risque ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents médicaux familiaux de troubles métaboliques peuvent influencer le risque." } } ] } ] }

Sources (10000 au total)

Service Demand for and Awareness of a Primary Healthcare Pilot Project for People With Disabilities.

This study investigated the demand for and awareness of a primary healthcare pilot project for people with disabilities; it also sought to identify relevant determinants for demand and awareness using... This study is a secondary analysis of data from the population-based survey conducted in Gyeonggi Regional Health & Medical Center for People with Disabilities. The data was designed with quota ra... Awareness of the service (12.1%) was remarkably low, while the demand (80.5%) was high. The gap between respondents who needed the service but were unaware of it differed according to age, education, ... Chronic disease and an unmet need for medical care were key determinants of service demand, while the severity of disability was not. Thus, there is a need to review the initiative that defines servic...

[The KomMent study: a pilot project on structured interprofessional communication in uro-oncology].

Communication and interprofessional collaboration with patients diagnosed with cancer is challenging. Structured communication training has not yet been integrated into postgraduate medical education.... A needs assessment was conducted using focus groups and individual interviews. Learning objectives were aligned with (inter)national learning objective catalogs. The ICT was developed using the six-st... Physician participation rates in the workshops were 83.0% and nursing participation rates were 58.3%. Utilization of the workplace-based training was 97%. The physicians evaluated the ICT very positiv... The implementation of an ICT with 80 teaching units is successfully feasible in a urological clinic and leads to a sustainable improvement of the communication culture, among other things through ment...

[Psychiatric-Psychotherapeutic Care in Crisis: Results of the LeiP#Netz Pilot Project].

Analysis of psychiatric-psychotherapeutic crisis services in the Leipzig Psychiatry Network (LeiP#netz), assigning the services to the functional areas of the FBM according to Steinhart and Wienberg.... A standardized survey of crisis care was conducted using the functions "complex outpatient treatment", "access to acute psychotherapy in crisis", and "24 h complex, intensive treatment" by means of fa... A total of 31 measures were recorded for the three functions. All crisis care services were highly utilized; in up to one-third of cases, no services could be provided when demand was requested. Servi... Crisis care services for severely mentally ill people are available in various constellations in the study region. Low-threshold 24/7 crisis services need to be expanded....

Adaptation of Screening Tools for Social Determinants of Health in Pregnancy: A Pilot Project.

Social determinants of health (SDOH) and stress during pregnancy may contribute to adverse pregnancy outcomes. The objective of this in the field pilot project was to develop a comprehensive screening... Pregnant patients accessing prenatal care at a single site of an urban Federally Qualified Health Center were recruited during prenatal visits to complete a Social Determinants of Health in Pregnancy ... Between April 2018 and March 2019, 135 pregnant participants completed SIPT. Ninety-one percent of patients scored positive on at least one screener, 54% to three or more screeners.... Despite guidelines to screen for SDOH during pregnancy there is no universal tool. Our pilot project demonstrated the concurrent use of adapted screening tools where participants reported at least one...

Colorectal Cancer Screening Pilot Project in Tehran-Iran, a Feasibility Study.

Colorectal cancer (CRC) is the third most common cancer in Iran, where there is no organised CRC-screening programme. This study aimed to evaluate feasibility of CRC screening using a qualitative feca... In this feasibility study, 7039 individuals aged 50-75 years were invited by community health workers (CHWs) in southern Tehran and its suburban districts between April 2018 and November 2019. The CHW... Acceptance rate at initial invitation was 71.7%. From 4974 average-risk adults (1600 males and 3374 females) who were offered FIT, 96.8% (n=4813) provided valid samples, of whom 471 (9.8%) tested posi... Our results partially support the feasibility of scaling up organized CRC-screening through the existing healthcare system in Iran; it remains to be discussed carefully to ensure the capacity of healt...

Conducting two evidence syntheses in six weeks - experiences with and evaluation of a pilot project.

Evidence synthesis organisations are trying to meet commissioners' needs for rapid responses to their evidence synthesis commissions. In this project we piloted an intensive process, working to comple... In a pre-planning phase, an intensive work group was established, and two commissions were selected for this pilot project. The evidence synthesis process was divided into two phases: planning and int... During the planning phase, teams identified significant uncertainties regarding scopes, research questions, and inclusion criteria. To address this, they engaged with commissioners earlier than origin... Overall, the intensive process fostered focus and productivity, allowing teams to manage short-term deliverables effectively. The researchers preferred working intensively with one evidence synthesis ...

[Implementation of a Pilot Project Supporting Parents Suffering from Cancer with Underage Children].

Families with one parent suffering from cancer are exposed to extraordinary emotional and organizational burdens, affecting underaged children. To help coordinated access to social and logistic suppor... A cross-sectional observational study was conducted using a mixed-method approach. Semi-structured written expert surveys (n=10) and secondary analysis of routine data of the care model (n=171 familie... Quantitative secondary analysis: The participating families had 1-7 children (median (m) 2, range (s) 6). In 66% of the cases, the mother was affected by cancer, in 20% the diseased parent was in a si... The data collected indicate that in families, matching the German average in their socio-demographic characteristics, a great need for organizational support develops as soon as one parent becomes sic...

A pilot project of expert nurses for the follow-up of complex intravenous antimicrobial treatment.

To report a pilot project of expert nurses for outpatient parenteral antimicrobial treatment (OPAT) follow-up.... Three nurses with specific training on antibiotics started a state-funded programme including: i) consultations for OPAT follow-up; ii) hotline for satellite hospitals; iii) peer training. Patients' d... From December 2020 to December 2021, 118 patients (median age 66.5 years [52-75], male-to-female ratio 2.5) were enrolled, for a total of 621 consultations. Patients were mostly on OPAT for bone and j... Nurses may be important actors for OPAT follow-up....

Implementation of entrustable professional activities into fellowship council accredited programs: a pilot project.

The Fellowship Council (FC) is transitioning to a competency-based medical education (CBME) model, including the introduction of Entrustable Professional Activities (EPAs) for training and assessment ... The FC coordinated the development of EPAs in collaboration with the sponsoring societies for Advanced GI/MIS, Bariatrics, Foregut, Endoscopy and Hepatopancreaticobiliary (HPB) fellowships encompassin... The 15 participating programs included 18 fellows and 106 faculty. A total of 655 assessments were initiated with 429 (65%) completed. The average (SD) number of EPAs completed for each fellow was 24(... A competency-based assessment framework was developed by the FC and piloted in several programs. Participation was variable and required ongoing strategies to address barriers. The pilot project has p...