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"@type": "Question",
"name": "Comment diagnostiquer une déficience en beta-Mannosidase ?",
"position": 1,
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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,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des mutations génétiques spécifiques peuvent être identifiées pour confirmer le diagnostic."
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"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en beta-Mannosidase ?",
"position": 6,
"acceptedAnswer": {
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"text": "Les symptômes incluent des retards de développement, des troubles cognitifs et des problèmes digestifs."
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"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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"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."
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{
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"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": {
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"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,
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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": {
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"text": "Le dépistage néonatal pour cette condition n'est pas systématique, mais peut être envisagé."
}
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{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 13,
"acceptedAnswer": {
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"text": "Oui, les conseils génétiques peuvent aider les familles à comprendre les risques de transmission."
}
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{
"@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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The emigration of physicians from low- and middle-income countries (LMICs) to high-income countries (HICs), colloquially referred to as the "brain drain", has been a topic of discussion in global heal...
A literature search was conducted on PubMed, EMBASE and The Cochrane Library. Main inclusion criteria were the inclusion of West African trained physicians' perspectives, the reasons and implications ...
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Robust and reliable estimates of demographic parameters are essential to understand population dynamics. Natal dispersal is a common process in monitored populations and can cause underestimations of ...
Although Charlotte Bühler (1893-1974) was one of the most prominent female psychologists during the first half of the last century, she never received a full professorship in a psychology department. ...
This study is the first to examine the collective of dental lecturers and scientists who emigrated from Nazi Germany to the United States of America. We pay special attention to the socio-demographic ...