questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Hydrolases
Glycosidases
Mannosidases
beta-Mannosidase
beta-Mannosidase : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Déficience enzymatique
Tests génétiques
Troubles neurologiques
Symptômes digestifs
Analyse d'urine
Tests sanguins
Symptômes
5
Retard de développement
Troubles cognitifs
Retard de langage
Difficultés d'apprentissage
Symptômes neurologiques
Convulsions
Prévention
5
Dépistage néonatal
Recommandations
Conseils génétiques
Transmission
Tests prénataux
Anomalies génétiques
Sensibilisation
Ressources éducatives
Traitements
5
Traitement symptomatique
Soins
Thérapie génique
Recherche
Médicaments
Déficience enzymatique
Thérapie physique
Éducation
Régime alimentaire
Gestion des symptômes
Complications
5
Complications neurologiques
Développement
Gestion des complications
Prévention
Risque accru
Troubles métaboliques
Qualité de vie
Complications
Surveillance
Professionnels de santé
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Consanguinité
Transmission
Mutations génétiques
Gène MANBA
Facteurs environnementaux
Origine génétique
Antécédents médicaux
Troubles métaboliques
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"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,
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"@type": "Answer",
"text": "Des tests sanguins ou des biopsies tissulaires peuvent être utilisés pour mesurer l'activité enzymatique."
}
},
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"@type": "Question",
"name": "Quels symptômes indiquent un besoin de test ?",
"position": 3,
"acceptedAnswer": {
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"@type": "Question",
"name": "La beta-Mannosidase est-elle mesurable dans l'urine ?",
"position": 4,
"acceptedAnswer": {
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"text": "Non, la beta-Mannosidase est principalement mesurée dans le sang ou les tissus."
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{
"@type": "Question",
"name": "Quel rôle joue la génétique dans le diagnostic ?",
"position": 5,
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en beta-Mannosidase ?",
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"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
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"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques aux enfants ?",
"position": 8,
"acceptedAnswer": {
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"text": "Les enfants peuvent présenter des retards de langage et des difficultés d'apprentissage."
}
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{
"@type": "Question",
"name": "Les symptômes sont-ils réversibles ?",
"position": 9,
"acceptedAnswer": {
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"text": "Non, les symptômes ne sont généralement pas réversibles sans traitement approprié."
}
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{
"@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."
}
}
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}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 03/04/2025
Contenu vérifié selon les dernières recommandations médicales
8 publications dans cette catégorie
Affiliations :
The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.
Publications dans "beta-Mannosidase" :
Beta
Scandinavian journal of medicine & science in sports
Beta
Drug testing and analysis
2020-01-19
The beta
The Journal of physiology
2021-11-08
Beta
Drug testing and analysis
2024-08-16
Beta
Drug testing and analysis
2019-04-03
Voir toutes les publications (8)
6 publications dans cette catégorie
Affiliations :
The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.
Publications dans "beta-Mannosidase" :
Beta
Scandinavian journal of medicine & science in sports
Beta
Drug testing and analysis
2020-01-19
Beta
Drug testing and analysis
2024-08-16
Beta
Scandinavian journal of medicine & science in sports
2022-04-29
Effect of beta
Scandinavian journal of medicine & science in sports
2019-09-13
Voir toutes les publications (6)
5 publications dans cette catégorie
Affiliations :
The August Krogh Section for Human Physiology, Department of Nutrition, Exercise and Sports, University of Copenhagen, Copenhagen, Denmark.
Publications dans "beta-Mannosidase" :
Beta
Scandinavian journal of medicine & science in sports
Beta
Drug testing and analysis
2020-01-19
Beta
Scandinavian journal of medicine & science in sports
2022-04-29
Effect of beta
Scandinavian journal of medicine & science in sports
2019-09-13
Inhaled beta
Scandinavian journal of medicine & science in sports
2023-10-25
4 publications dans cette catégorie
Affiliations :
Department of Chemistry, University of York, Heslington, York YO10 5DD, United Kingdom.
Publications dans "beta-Mannosidase" :
4 publications dans cette catégorie
Affiliations :
Department of Glycobiology, Institute of Chemistry, Centre for Glycomics, Slovak Academy of Sciences, Dúbravská Cesta 9, 845 38, Bratislava, Slovak Republic.
Publications dans "beta-Mannosidase" :
3 publications dans cette catégorie
Publications dans "beta-Mannosidase" :
3 publications dans cette catégorie
Affiliations :
School of Medicine, University of Tasmania, Australia.
Publications dans "beta-Mannosidase" :
Beta
Drug testing and analysis
2020-01-19
Beta
Drug testing and analysis
2024-08-16
Beta
Drug testing and analysis
2019-04-03
3 publications dans cette catégorie
Affiliations :
Institute of Chemistry, Center for Glycomics, Slovak Academy of Sciences, Dúbravská cesta 9, 845 38 Bratislava, Slovakia.
Medical Vision, Civic Research Association, Záhradnícka 4837/55, 82108 Bratislava, Slovakia.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Medicine Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Institute for Translational Medicine and Therapeutics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Department of Genetics Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
School of Chemistry and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Victoria 3010, Australia. Electronic address: sjwill@unimelb.edu.au.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Laboratory of Glycobiology, Hirszfeld Institute of Immunology and Experimental Therapy, Weigla 12, 53-114 Wroclaw, Poland.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109, USA.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109, USA.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Department of Molecular, Cellular and Developmental Biology, University of Michigan, 1105 North University Avenue, Ann Arbor, MI 48109, USA; Department of Neurology, University of Michigan School of Medicine, Ann Arbor, MI, USA. Electronic address: yzwang@umich.edu.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Division of Pediatric General and Thoracic Surgery, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Rangos Research Center Animal Imaging Core, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Hillman Center for Pediatric Transplantation, Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center (UPMC), Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
2 publications dans cette catégorie
Affiliations :
Histology Core Laboratory Manager, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States.
Publications dans "beta-Mannosidase" :
Respondent-driven sampling (RDS) is a peer chain-recruitment method for populations without a sampling frame or that are hard-to-reach. Although RDS is usually done face-to-face, the online version (W...
Description of the development phase: guidance is provided addressing aspects related to the formative research, the design of the questionnaire, the implementation of the coupon system using a free s...
The application of the survey: we discuss about the monitoring strategies throughout the recruitment process and potential problems along with proposed solutions....
Under certain conditions, it is possible to obtain a sample with recruitment performance similar to that of other RDS without the need for monetary incentives and using a free access software, conside...
We report a novel model of the selective binding mechanism of adenosine-specific DNA aptamer. Our theoretical investigations of AMP (Adenosine monophosphate) dissociation from aptamer-AMP complexes re...
Estimation of abortion incidence, particularly in settings where most abortions occur outside of health facility settings, is critical for understanding information gaps and service delivery needs in ...
In this study, we tested the feasibility of using RDS to recruit participants into a study about abortion and estimated the proportion of people who ever attempted abortion as well as 1-year and 5-yea...
Participants were eligible if they identified as a woman; were aged between 15 and 49 years; spoke English, Tswana, isiZulu, Sotho, or Xhosa; and lived in Soweto. Working with community partners, we i...
Between April 4, 2018, and December 17, 2018, 849 eligible participants were recruited into the study. The estimated proportion of people who ever attempted abortion was 12.1% (95% CI 9.7%-14.4%). A t...
The estimated proportion of people who ever attempted abortion of 12% (102/849) in our study likely represents a substantial underestimation of the actual proportion of abortion attempts among this st...
The poor aqueous solubility of curcumin (CUR) obstructs its wide utilization in nutraceuticals, cosmetics, and pharmaceutical companies. This study is dedicated to investigate the stability of CUR ins...
Hypertension is a major cause of morbidity among older adults. We investigated older adults' access to health services in Myanmar by focusing on unmet needs in diagnosing hypertension. This study aims...
This is a secondary data analysis of the survey which is a cross-sectional study conducted with older adults (aged ≥ 60 years) in the Yangon and Bago regions of Myanmar. Objective indicators of health...
Data from 1200 people, 600 from each of the two regions, were analysed. Altogether 483 (40.3%) participants were male, 530 (44.2%) were aged ≥ 70 years, and 857 were diagnosed with hypertension based ...
There are barriers to accessing health services for hypertension diagnosis, as evidenced by the regional disparities found in this study, and charitable clinics may decrease the financial barrier to t...
Assessing transmission of SARS-CoV-2 by children in schools is of crucial importance to inform public health action. We assessed frequency of acquisition of SARS-CoV-2 by contacts of pupils with COVID...
We did a prospective cohort and environmental sampling study in London, UK in eight schools. Schools reporting new cases of SARS-CoV-2 infection to local health protection teams were invited to take p...
Between October, 2020, and July, 2021 from the eight schools included, secondary transmission of SARS-CoV-2 was not detected in 28 bubble contacts, representing ten bubble classes (participation rate ...
There was no evidence of large-scale SARS-CoV-2 transmission in schools with precautions in place. Low levels of environmental contamination in schools are consistent with low transmission frequency a...
UK Research and Innovation and UK Department of Health and Social Care, National Institute for Health and Care Research....
The HIV epidemic still high among key-populations in Brazil, especially among transgender women (TGW). The aim of this study was to investigate the prevalence of HIV infection among TGW and to analyze...
The studies were conducted between 2014 and 2016 and 2016-2017 and employed Respondent-Driven Sampling (RDS) sampling, comprising 127 and 161 TGW residents of Salvador, Bahia. The outcome was the posi...
The HIV prevalence was 9.0% (95%CI: 4.2-18.2) and 24.3% (95%CI: 16.2-34.9). In the first study, factors associated with HIV prevalence were experiencing discrimination by the family (OR 8.22; 95%CI: 1...
We found disproportionately high HIV prevalence among TGW, which underscores the context of vulnerability for this population. The data point to the urgency for intensification and expansion of access...
Respondent-driven sampling (RDS) uses long-chain referral whereby members of the target population recruit other members. We describe the use of RDS for a mixed-methods sexual and reproductive health ...
Initial seeds for the cross-sectional surveys were selected from adolescents aged 15-19 residing in urban informal settlements. Participants were provided up to five referral coupons to distribute....
Across four communities, 18 seeds were selected, 13,489 coupons distributed, and 3381 adolescents referred, yielding a 25% coupon return rate. We enrolled 3061 participants for a 23% survey rate. Medi...
Our study demonstrated that RDS is a feasible and efficient approach for recruiting a large sample of adolescents. Though our research focused on SRH, many adolescents residing in the impoverished urb...
Female Sex Workers (FSWs) are a hard-to-reach and understudied population, especially those who begin selling sex at a young age. In one of the most economically disadvantaged regions in Malawi, a lar...
In most circumstances, probability sampling is the only way to ensure unbiased inference about population quantities where a complete census is not possible. As we enter the era of 'big data', however...