questionsmedicales.fr
Enzymes et coenzymes
Enzymes
Hydrolases
Glycosidases
Mannosidases
beta-Mannosidase
beta-Mannosidase : Questions médicales fréquentes
Termes MeSH sélectionnés :
Intervertebral Disc Displacement
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."
}
},
{
"@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."
}
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{
"@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" :
The intervertebral disc (IVD) aids in motion and acts to absorb energy transmitted to the spine. With little inherent regenerative capacity, degeneration of the intervertebral disc results in interver...
Intervertebral disc degeneration is a contributor to chronic back pain. While a part of the natural aging process, early or rapid intervertebral disc degeneration is highly heritable. In this review, ...
Use of large cohorts of patient data to conduct genome-wide association studies (GWAS) for intervertebral disc disease, and to lesser extent for aspects of this process, such as disc height, has resul...
To determine the impact of ethanol gel chemonucleolysis (EGCh) on the radiological picture of the treated intervertebral disc, the relationship between the initial radiological status and the clinical...
The study involved a group of 45 patients (25 men and 20 women) aged 23-68 years (46 ± 11) who underwent an EGCh procedure after qualification, radiography, and clinical questionnaire evaluation....
The results showed a decrease in the size of the protrusion and Gadolinium-Enhanced (GI) zone in the treated intervertebral disc. The presence of a high-intensity zone (HIZ) on baseline magnetic reson...
These findings suggest that EGCh is a promising treatment for spine diseases, and the HIZ on baseline magnetic resonance imaging can be used as a qualification criterion for this procedure....
Behçet's disease (BD) is a chronic systemic vasculitis with a wide range of clinical findings. It has both autoinflammatory and autoimmune features and manifests with recurrent inflammatory attacks in...
Cervical prolapsed intervertebral disc is one of the common conditions causing cervical myeloradiculopathy. Anterior Cervical Discectomy and Fusion (ACDF) is the standard line of management for the sa...
We report a patient with C5-6 cervical disc prolapse that presented with radiculopathy symptoms in the right upper limb, which was refractory to conservative care. He underwent a C5-6 ACDF and reporte...
Careful review of preoperative imaging and contrast MRI study may help in diagnosing cystic schwannomas with concomitant cervical disc herniations that have cord signal changes....
Paediatric intervertebral disc calcification (PIDC) is a rare disease, and its aetiology remains unknown. This study aimed to analyse the characteristics and clinical outcomes of patients with PIDC....
After applying the exclusion and inclusion criteria, 159 children diagnosed with PIDC were analysed at our hospital between January 2010 and November 2020. Patients' demographic and clinical data were...
One hundred and fifty-nine patients were ultimately followed up with for about 12.5 ± 5.8 months. There were 103 male and 56 female, with an average age of 6.08 ± 2.62 years (2 months to 12 years). A ...
PIDC can be treated conservatively, even when accompanied by herniation, longitudinal ligament calcification, or clinical neck symptoms....
IV....
Recently, more and more people suffer from low back pain triggered by lumbar degenerative disc disease. The mechanical factor is one of the most significant causes of disc degeneration. This study aim...
A finite element model of the L4-L5 lumbar spine was developed and validated. The model not only considered changes in permeability coefficient with strain, but also included physiological factors suc...
The simulation results revealed that the facet joints shared massive stresses of the intervertebral discs, and prevented excessive lumbar spine movement. However, their asymmetrical position may have ...
The variation in the biomechanical performance of the intervertebral disc could be attributed to the periodic movement of internal fluids. This study might be helpful for understanding the mechanism o...
BACKGROUND Lower back pain is a common problem in the general population. Medical treatment is the first choice for patients without severe pain and major motor weakness. If patients do not benefit fr...
Intervertebral disc degeneration (IDD) and associated conditions are an important problem in modern medicine. The onset of IDD may be in childhood and adolescence in patients with a genetic predisposi...
Prospective observational study....
To determine the prevalence of isolated thoracic degeneration on magnetic resonance imaging (MRI), demographic factors and imaging features, as well as the patient-reported quality of life outcomes as...
Thoracic intervertebral discs are least susceptible to disc degeneration (DD) and may represent a manifestation of "dysgeneration." These discs may never be hydrated from the beginning and seem hypoin...
A population-based MRI study of 2007 volunteers was conducted. Each disc from C2/3 to L5/S1 was measured by Pfirrmann and Schneiderman grading. Disc herniation, Schmorl node (SN), high-intensity zones...
The mean age of the subjects was 50.0 ± 0.5 and 61.4% were females (n = 1232). Isolated thoracic degeneration was identified in 2.3% of the cohort. Factors associated with isolated thoracic degenerati...
Isolated thoracic degeneration demonstrated an earlier age of onset, mostly involving the mid-thoracic region (T5/6-T8/9), and in association with findings such as SN. Subjects with tandem thoracolumb...
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