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"@type": "Question",
"name": "Comment diagnostiquer une déficience en beta-Mannosidase ?",
"position": 1,
"acceptedAnswer": {
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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."
}
},
{
"@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."
}
},
{
"@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."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en beta-Mannosidase ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des retards de développement, des troubles cognitifs et des problèmes digestifs."
}
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"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": {
"@type": "Answer",
"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": {
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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."
}
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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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Aiming to translate, culturally adapt, and psychometrically evaluate the Person-centred Practice Inventory - Staff (PCPI-S) for Portuguese healthcare professionals, this methodological study was condu...
Time-management skills are essential in handling daily life, and adults with neurodevelopmental disorders often have difficulty with these skills. Therefore, interventions targeting such skills are co...
This study aims to evaluate the test-retest reliability of the Swedish version of the ATMS (ATMS-S)....
A total of 33 participants with neurodevelopmental disorders and difficulty with time management completed the test twice, approximately 1 week apart. The test-retest reliability for the three subscal...
The results showed overall moderate to good stability for the measures. The intraclass correlation coefficients were 0.79 (time management), 0.82 (organization and planning), and 0.50 (regulation of e...
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To validate [...
Thirty-seven subjects with Parkinson's disease (Hoehn and Yahr stage < 3) were included in a longitudinal PET study with [...
Baseline and follow-up PET data (interval: 2.3 ± 0.5 years) were available for 25 patients (9 females, 16 males). Median age was 64.7 years (range 46-76); symptom duration: 3 years (0.25-14); Hoehn an...
Longitudinal [...
To enhance biosafety and reliability in SARS-CoV-2 molecular diagnosis, virus lysis/transport buffers should inactivate the virus and preserve viral RNA under various conditions. Herein, we evaluated ...
The objective is to assess the impact of the quality of tissue fixation in surgical pathology on immunohistochemical (IHC) staining and DNA degradation....
Twenty-five non-small cell lung cancer (NSCLC) resection specimens were analyzed. After resection, all tumors were processed according to the protocols in our center. In haematoxylin and eosin (H&E) s...
H-scores were significantly higher in H&E adequately fixed tumor areas in IHC stains KER-MNF116 (H-score 256 vs 15, p=0.001) and p40 (H-score 293 vs 248, p=0.028). All other stains showed a trend towa...
Impaired tissue fixation of resected lung tumors results in decreased IHC staining intensity in some parts of the tumor. This may impact the reliability of IHC analysis....
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We analyzed results reported by the EQA participant laboratories from single and sequential samples from SARS-CoV-2 convalescent, acutely infected, and vaccinated individuals, including samples obtain...
The three immunoassays most commonly used by the participants displayed a low intra-assay and inter-laboratory variation with excellent reproducibility using identical samples sent to the participants...
Measured BAU/mL levels are only inter-changeable among different laboratories when the same assay was used for their assessment. Highly variable ratios of BAU/mL quantifications among different immuno...
To evaluate the quality and reliability of videos on YouTube about robotic-assisted sacrocolpopexy....
YouTube's search function was used to find videos associated with robotic-assisted sacrocolpopexy. On June 1, 2022, systematic research was performed using the term "robotic-assisted sacrocolpopexy". ...
A total of 50 videos associated with robotic-assisted sacrocolpopexy were analyzed. The most frequently discussed topics in the videos were the duration of the surgery (72%), the anatomical success ra...
Our study shows that the level of quality in YouTube videos associated with robotic-assisted sacrocolpopexy is at an acceptable and high level, but its reliability is low. Therefore, short and concise...
Malnutrition can play an important prognostic role in terms of survival in patients with amyotrophic lateral sclerosis (ALS). In this clinical context, applying criteria defining malnutrition requires...
The research aimed at further improvement of the technology of measuring swimmers' active drag by the small perturbation method (SPM) at the average maximal swimming velocity (v...
Organizational safety decisions rely heavily on safety information in today's data-driven era, but there is a significant danger of information distortion that can compromise system safety. To address...