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,
"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."
}
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{
"@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."
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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 ?",
"position": 6,
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
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"text": "Oui, les symptômes peuvent apparaître dès l'enfance ou à l'âge adulte, selon la gravité."
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"@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": {
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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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}
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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" :
Assistive robots are still mostly prototypes that only remotely recall human interactive dynamics [...]....
Many anticipated physical human-robot interaction (pHRI) applications in the near future are overground tasks such as walking assistance. For investigating the biomechanics of human movement during pH...
Better integration of assistive robots with humans and adoption of a user-centric approach in their development will improve performance....
When we think of "soft" in terms of socially assistive robots (SARs), it is mainly in reference to the soft outer shells of these robots, ranging from robotic teddy bears to furry robot pets. However,...
Degree of resident participation in a case is often used as a surrogate marker for operative autonomy, an essential element of surgical resident training. Previous studies have demonstrated a consider...
A total of 28 consecutive robotic inguinal hernia repair procedures were observed by research staff. Operative time, percent active time for the resident, and number of handoffs between the resident a...
Robotic inguinal hernia repair cases had a mean operative time of 91.3 (30) minutes and an attending-rated mean difficulty of 3.1 (1.26) out of 5. Residents were recorded to be the active surgeon 71.8...
Our findings suggest that robot-generated performance metrics are an extremely accurate and reliable measure of intraoperative resident participation indicated by a very strong correlation with the da...
The learning curve of robotic surgical skills is poorly understood. There is a lack of data on the transferability of skills from open and laparoscopic training to robotic surgery. In this retrospecti...
Between 2019 and 2021, novice general surgery residents underwent robotic skill assessment using 3 validated inanimate drills before starting intern year. After completing basic open and laparoscopic ...
The total time needed to complete all 3 robotic drills decreased from a mean of 26 to 17 minutes after intern year (p < 0.001). The number of errors decreased from a mean of 2.16 to 0.56 errors per su...
Baseline robotic surgical skills are limited without formal training. Our findings suggest that acquiring basic open and laparoscopic skills, such as knot tying, needle driving, and tissue handling re...
The background of this study is to assess the feasibility, clinical utility and safety of intra-corporeal robotic-sewn anastomosis (ICrA) in completely robotic right hemicolectomy (CRH) for adenocarci...
The Uncanny Valley hypothesis implies that people perceive a subjective border between human and robot faces. The robot-human border refers to the level of human-like features that distinguishes human...
Robotic assistance in pelvic organ prolapse surgery can improve surgeon ergonomics and instrument dexterity compared with traditional laparoscopy but at increased costs....
To compare total costs for robotic-assisted sacrocolpopexy (RSC) between two robotic platforms at an academic medical center....
Retrospective cohort of Senhance (Ascensus) RSC between 1/1/2019 and 6/30/21 who were matched 2:1 with DaVinci (Intuitive) RSC. Primary outcome was total costs to hospital system; secondarily we evalu...
The matched cohort included 75 subjects. The 25 Senhance and 50 DaVinci cases were similar overall, with mean age 60.5 ± 9.7, BMI 27.9 ± 4.7, and parity 2.5 ± 1.0. Majority were white (97.3%) and post...
Despite longer operating times, total cost of robotic-assisted sacrocolpopexy was significantly lower when using the Senhance compared to the DaVinci system....