Oui, les jeunes enfants sont plus susceptibles de présenter des déficiences enzymatiques.
ÂgeDéficiences enzymatiques
#3
Y a-t-il des maladies associées à ce risque ?
Certaines maladies métaboliques peuvent être liées à un risque accru de déficience.
Maladies métaboliquesRisque accru
#4
Le mode de vie influence-t-il le risque ?
Oui, un mode de vie malsain peut augmenter le risque de complications liées à cette enzyme.
Mode de vie malsainComplications
#5
Les facteurs environnementaux sont-ils significatifs ?
Oui, l'exposition à des toxines environnementales peut augmenter le risque de déficience.
Facteurs environnementauxToxines
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"name": "Comment diagnostiquer une déficience en lactoyl glutathione lyase ?",
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"text": "Des tests enzymatiques et des analyses génétiques peuvent confirmer la déficience."
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"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité de cette enzyme ?",
"position": 2,
"acceptedAnswer": {
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"text": "Des tests biochimiques mesurant l'activité enzymatique dans des échantillons biologiques."
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"@type": "Question",
"name": "Quels symptômes peuvent indiquer un problème avec cette enzyme ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes de stress oxydatif, comme la fatigue ou des troubles neurologiques."
}
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"@type": "Question",
"name": "Y a-t-il des biomarqueurs associés à cette enzyme ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des niveaux anormaux de glutathion et de lactate peuvent être des biomarqueurs."
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"name": "Quels sont les symptômes d'une déficience en lactoyl glutathione lyase ?",
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"position": 10,
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"@type": "Question",
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"name": "Quels traitements sont disponibles pour la déficience en lactoyl glutathione lyase ?",
"position": 16,
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"name": "La thérapie génique est-elle une option ?",
"position": 17,
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"text": "La thérapie génique est en recherche, mais pas encore largement disponible."
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{
"@type": "Question",
"name": "Des changements alimentaires peuvent-ils aider ?",
"position": 18,
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"@type": "Answer",
"text": "Oui, une alimentation riche en antioxydants peut soutenir la santé cellulaire."
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"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques à éviter ?",
"position": 19,
"acceptedAnswer": {
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec cette déficience ?",
"position": 21,
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"@type": "Question",
"name": "La déficience peut-elle affecter le système immunitaire ?",
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"@type": "Question",
"name": "Y a-t-il des risques de maladies chroniques ?",
"position": 23,
"acceptedAnswer": {
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"text": "Oui, un stress oxydatif accru peut contribuer à des maladies chroniques."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais d'autres peuvent être permanentes."
}
},
{
"@type": "Question",
"name": "Comment surveiller les complications potentielles ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des suivis réguliers avec des professionnels de santé sont essentiels pour surveiller les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents familiaux et des expositions environnementales peuvent augmenter le risque."
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"@type": "Question",
"name": "L'âge joue-t-il un rôle dans le risque ?",
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"position": 28,
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College of Marine Life Sciences, Frontiers Science Center for Deep Ocean Multispheres and Earth System, Ocean University of China, Qingdao 266003, China.
Children's Hospital Oakland Research Institute, University of California, San Francisco Benioff Children's Hospital Oakland, Oakland, CA 94609 jsaba@chori.org.
The World Health Organization Disability Assessment Schedule (WHODAS 2.0) is a generic questionnaire that captures health and disability-related functioning information corresponding to six major life...
A cross-sectional survey was performed. Internal consistency reliability was assessed with Cronbach's alpha. The construct validity was evaluated with item-total correlation, Pearson's correlation bet...
Three thousand four hundred and eighty two adults aged 19-103 years (response rate 43%) participated. Significantly higher degrees of disability were reported by the oldest age group (≥ 80 years), adu...
The psychometric properties of the self-administered Swedish 36-item version of the WHODAS 2.0 are comparable to those of other language versions of the instrument. Data of the prevalence of disabilit...
The aim of this investigation was to examine developmental, sociodemographic and familial factors associated with parent reported access to an evaluation in an Early Head Start sample. Children with d...
This study (n = 191) examined how developmental, sociodemographic and parent factors at age 2 were associated with parent reporting the child being evaluated by age 3. Two logistic regression analyses...
The first model found that children in the monitoring zone of developmental risk were more likely to be evaluated per parent report if they were born preterm, male, with increased behaviour problems, ...
This study highlights barriers associated with access to developmental and disability evaluations for children in at-risk families. Health disparities are negatively associated with children's access ...
A robust multi-dimensional disability assessment standard was constructed to consider physical condition, care resources, and social interaction that might lead to disability, to provide a basis for a...
Short-term disability progression was predicted from a baseline evaluation in patients with multiple sclerosis (MS) using their three-dimensional T1-weighted (3DT1) magnetic resonance images (MRI). On...
The Uganda version of Pediatric Evaluation of Disability Inventory (PEDI-UG) was culturally adapted and validated from the PEDI-US, a tool used to evaluate the functional capability of children with o...
A qualitative research design was chosen to explore the participants' viewpoints concerning the utility and value of the PEDI-UG for children with disabilities. Purposive sampling was used to recruit ...
Several challenges concerning the contextual use of PEDI-UG were reported. For example, PEDI-UG being culturally adapted in two languages (English and Luganda) makes it difficult for health profession...
The findings of this study suggest that health professionals are challenged with the use of the PEDI-UG assessment in diverse cultural contexts and/or languages. These challenges are important conside...
The prevention of disability over the long term is the main treatment goal in multiple sclerosis (MS); however, randomized clinical trials evaluate only short-term treatment effects on disability. Thi...
In total, 14,802 6-month confirmed disability progression events were identified in 8741 patients from the global MSBase registry. For each 6-month confirmed progression event (13,321 in the developme...
The score was based on age, sex, MS phenotype, relapse activity, disability score and its change from baseline, number of affected functional system domains and worsening in six of the domains. In the...
Clinicodemographic characteristics of 6-month confirmed disability progression events identify those at high risk of sustained long-term disability. This knowledge will allow future trials to better a...
Our objectives were to examine cross-sectional correlations of headache disability with measures of resilience, anxiety, and depression, and to determine if resilience modified the association between...
Resilience is associated with quality of life and functioning among patients with chronic conditions. We investigated whether resilience strongly mitigates headache-related disability as measured by t...
We prospectively recruited 160 patients with primary headache disorders seen in a tertiary headache medicine program between February 20, 2018 and August 2, 2019. Each participant completed the MIDAS,...
The CDRS-25 score was negatively correlated with the total MIDAS (r = -0.21, p = 0.009), GAD-7 (r = -0.56, p < 0.001), and PHQ-9 scores (r = -0.34, p < 0.001). Well-being inversely correlated with dis...
Traits associated with resilience decreased the odds of severe disability from headaches, whereas anxiety, depression, and headache frequency were strongly associated with higher disability from heada...
To investigate clinically meaningful change for ROADS and ALSFRS-R using a patient-defined approach....
Data were reviewed from participants assessed at the Emory ALS Center from 2019-2022 with two assessments using both ROADS and ALSFRS-R and a completed patient-reported global impression of change sca...
Data were included from 162 participants. For ROADS (total possible normed score = 146), MID = 5.81 and MDC = 2.83 points. For ALSFRS-R (total possible sum-score = 48), MID = 3.24 and MDC = 1.59 point...
Changes that are on average less than 5.81 points (3.98%) on the normed ROADS score or less than 3.24 points (6.75%) on the ALSFRS-R sum-score may not be clinically meaningful according to a patient-d...
To evaluate the impact and acceptability of outpatient physical or occupational therapy (PT/OT) for breast cancer survivors (BCS) with varying levels of upper extremity disability (UED)....
We retrospectively extracted patient and therapy characteristics, UED measured by quick-disabilities of the arm, shoulder and hand (QuickDASH, 0-100 pts.), and patient-rated acceptability (1-item, 0-1...
Patients (N = 417) were 59.89 ± 12.06 years old, 99% female, and attended approximately 10 PT/OT sessions (IQR = 6.0-16.0). Most had high baseline UED (62%), followed by moderate (25%) or low UED (13%...
Outpatient cancer rehabilitation is associated with significant improvement in UED for BCS and was acceptable to patients regardless of UED severity at baseline....
To ensure the validity and therapeutic utility of the Neck disability index (NDI) scale, translations, cultural adaptations and psychometric evidence is necessary. This study aimed to address the abse...
Following guidelines provided by the American Association of Orthopedic Surgeons, the original English NDI scale was cross-culturally adapted into Hindi. The adaptation process included translations (...
The NDI-Hi version exhibited favorable psychometric properties, including good test-retest reliability with an intra-class correlation coefficient (ICC) of 0.87. Internal consistency of the scale was ...
The NDI-Hi demonstrated validity and reliability as an outcome tool for assessing neck disability. It can be effectively utilized in clinical practice and research settings involving Hindi-speaking in...
