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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"name": "Quels symptômes indiquent un besoin de test ?",
"position": 3,
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"@type": "Question",
"name": "La beta-Mannosidase est-elle mesurable dans l'urine ?",
"position": 4,
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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 ?",
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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,
"acceptedAnswer": {
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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": {
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"text": "La déficience est génétique, donc la prévention n'est pas possible, mais le dépistage peut aider."
}
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{
"@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" :
The gene encoding proprotein convertase subtilisin/kexin type 9 (PCSK9) and its protein product have been widely studied for their role in cholesterol and lipid metabolism. PCSK9 increases the rate of...
Although the proprotein convertase subtilisin kexin-9 inhibitors (PCSK9i) were shown to significantly lower low-density lipoprotein and reduce atherosclerotic cardiovascular disease events in clinical...
Sepsis is a life-threatening condition that arises when the body's response to infection causes injury to its tissues and organs. Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an enzyme rel...
To determine the harms of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in people who need lipid-lowering therapy....
This systematic review included randomised controlled trials that compared PCSK9 inhibitors with placebo, standard care or active lipid-lowering comparators in people who need lipid-lowering therapy w...
We included 32 trials with 65 861 participants (with the median follow-up duration of 40 weeks, ranging from 24 to 146 weeks). The meta-analysis showed an incidence of injection-site reaction leading ...
PCSK9 inhibitors slightly increase the risk of severe injection-site reaction but not cataracts, gastrointestinal haemorrhage, neurocognitive events, new-onset diabetes or severe myalgia or muscular p...
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a new target for reducing low-density lipoprotein cholesterol and incident cardiovascular disease, including stroke. However, the clinical rele...
In community-dwelling Japanese men (n = 526) aged 46-82 years without a history of cardiovascular disease, the associations of serum PCSK9 levels with the prevalence of CSVD and ICAS were assessed usi...
The median (interquartile range) age at baseline and serum PCSK9 levels were 69 (63-74) years and 240 (205-291) ng/ml, respectively. After adjusting for traditional cardiovascular risk factors includi...
Higher circulating PCSK9 levels were independently associated with an ICAS prevalence but not with CSVD prevalence. The quantification of circulating PCSK9 levels may help to identify individuals at h...
Proprotein convertase subtilisin/kexin type-9 (PCSK9) is a posttranslational regulator of the LDL receptor (LDLR). Recent studies have proposed a role for PCSK9 in regulating immune responses. Using R...
Guidelines advocate for intensive lipid-lowering in patients with atherosclerotic cardiovascular disease (ASCVD). In May 2020, evolocumab, a proprotein convertase subtilisin-kexin type 9 (PCSK9) inhib...
To identify barriers to prescribing PCSK9 inhibitors in hospitalised patients with ASCVD....
A retrospective 3-month, single-site, observational analysis was conducted in consecutive patients undergoing percutaneous coronary intervention (PCI) or coronary artery bypass graft (CABG) surgery. L...
Of 331 patients, 244 (73.7%) underwent PCI and 87 (26.3%) underwent CABG surgery. A lipid profile during or within 8 weeks of admission was measured for 202 (82.8%) patients undergoing PCI and 59 (67....
Prescribing of non-statin LDL-C-lowering therapies remains low in patients with ASCVD. Underprescribing of ezetimibe and suboptimal lipid testing rates are barriers to accessing subsidised PCSK9i ther...
Proprotein Convertase Subtilisin/Kexin type 9 (PCSK9) levels have been suggested as novel atherosclerotic biomarker. PCSK9 plays important roles in the pathogenesis of atherosclerosis by regulating th...
This cross-sectional analysis enrolled 401 Caucasian patients with type II diabetes mellitus (T2DM). PCSK9 levels were measured by ELISA test, arterial stiffness was estimated by measuring carotid-fem...
Patients were divided in three tertiles according to increasing value of PCSK9. From the I to the III tertiles, there was a significant increase in high sensitivity C-reactive protein (hs-CRP), fibrin...
Our study demonstrates a close association between circulating PCSK9 levels and PWV in T2DM subjects without previous CV events even after adjusting for well-known CV risk factor and pharmacological m...
Proprotein convertase subtilisin/kexin-type 9 inhibitor (PCSK9i) treatment reduces cardiovascular events when taken over a long time for secondary prevention. Data on treatment adherence are scarce an...
Baseline data and prescription patterns of all 7302 patients with PCSK9i prescriptions dispensed on the account of Austrian Social Insurances between September 2015 and December 2020 were retrieved an...
Considering the high PDC and low discontinuation rates, the majority of patients adhere to PCSK9i treatment. Hence, in a system where PCSK9i treatment is made available at virtually no costs for patie...
Proprotein convertase subtilisin/kexin type 9 (PCSK9) reduces low density lipoprotein (LDL) uptake, leading to increased plasma levels of LDL. In addition, PCSK9 has been implicated in inflammation in...