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"description": "Comment diagnostiquer un déficit en galactosylceramidase ?\nQuels tests sont utilisés pour le diagnostic ?\nQuels symptômes peuvent indiquer un déficit ?\nLe diagnostic est-il difficile à établir ?\nY a-t-il des marqueurs biologiques spécifiques ?",
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"description": "Quel est le traitement principal pour le déficit en galactosylceramidase ?\nY a-t-il des médicaments spécifiques utilisés ?\nLa physiothérapie est-elle recommandée ?\nDes interventions chirurgicales sont-elles nécessaires ?\nLe traitement est-il efficace à long terme ?",
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"@type": "Question",
"name": "Comment diagnostiquer un déficit en galactosylceramidase ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un diagnostic se fait par des tests enzymatiques et génétiques pour évaluer l'activité de l'enzyme."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour le diagnostic ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests sanguins et les analyses d'urine sont couramment utilisés pour détecter le déficit."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer un déficit ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes neurologiques, digestifs ou cutanés peuvent suggérer un déficit en galactosylceramidase."
}
},
{
"@type": "Question",
"name": "Le diagnostic est-il difficile à établir ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le diagnostic peut être complexe en raison de la variabilité des symptômes et des tests."
}
},
{
"@type": "Question",
"name": "Y a-t-il des marqueurs biologiques spécifiques ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des niveaux élevés de galactosylcéramide dans les fluides biologiques peuvent indiquer un déficit."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes principaux d'un déficit en galactosylceramidase ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des troubles neurologiques, des problèmes de peau et des troubles digestifs."
}
},
{
"@type": "Question",
"name": "Les symptômes apparaissent-ils dès la naissance ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent apparaître à la naissance ou se développer progressivement durant l'enfance."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes spécifiques chez les adultes ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Chez les adultes, des troubles cognitifs et des problèmes de mobilité peuvent se manifester."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils réversibles ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes ne sont généralement pas réversibles, mais un traitement peut aider à les gérer."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils avec le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent s'aggraver avec le temps, entraînant des complications neurologiques."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir le déficit en galactosylceramidase ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de méthode de prévention pour ce déficit génétique."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il possible ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage prénatal peut identifier les porteurs du gène responsable du déficit."
}
},
{
"@type": "Question",
"name": "Des conseils génétiques sont-ils recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils génétiques peuvent aider les familles à comprendre les risques de transmission."
}
},
{
"@type": "Question",
"name": "Les tests de porteurs sont-ils disponibles ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests de porteurs sont disponibles pour évaluer le risque de déficit chez les descendants."
}
},
{
"@type": "Question",
"name": "Y a-t-il des recommandations pour les familles à risque ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les familles à risque devraient consulter un spécialiste pour des conseils et un suivi appropriés."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour le déficit en galactosylceramidase ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal est la thérapie enzymatique de remplacement pour compenser le déficit."
}
},
{
"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques utilisés ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des médicaments comme les analogues de la sphingolipide peuvent être utilisés pour gérer les symptômes."
}
},
{
"@type": "Question",
"name": "La physiothérapie est-elle recommandée ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la physiothérapie peut aider à améliorer la mobilité et la qualité de vie des patients."
}
},
{
"@type": "Question",
"name": "Des interventions chirurgicales sont-elles nécessaires ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des interventions chirurgicales peuvent être nécessaires pour traiter certaines complications."
}
},
{
"@type": "Question",
"name": "Le traitement est-il efficace à long terme ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut améliorer la qualité de vie, mais il ne guérit pas le déficit enzymatique."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications possibles du déficit ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et des problèmes de développement."
}
},
{
"@type": "Question",
"name": "Le déficit peut-il entraîner des problèmes psychologiques ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des problèmes psychologiques comme l'anxiété et la dépression peuvent survenir."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de complications à long terme ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les patients peuvent développer des complications à long terme affectant leur qualité de vie."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles évitables ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être gérées, mais elles ne sont pas entièrement évitables."
}
},
{
"@type": "Question",
"name": "Comment surveiller les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier avec des spécialistes est essentiel pour surveiller et gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour le déficit ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux de maladies génétiques augmentent le risque de déficit en galactosylceramidase."
}
},
{
"@type": "Question",
"name": "Le sexe influence-t-il le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le déficit touche également les deux sexes, mais certaines formes peuvent être plus fréquentes chez les hommes."
}
},
{
"@type": "Question",
"name": "L'origine ethnique joue-t-elle un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines populations ont un risque plus élevé de déficits enzymatiques en raison de facteurs génétiques."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux sont-ils impliqués ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, les facteurs environnementaux ne sont pas clairement établis comme des risques."
}
},
{
"@type": "Question",
"name": "Les antécédents médicaux influencent-ils le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents médicaux de troubles métaboliques peuvent augmenter le risque de déficit."
}
}
]
}
]
}
Concerns persist about venetoclax's long-term safety in larger populations, with limited evidence of infrequent and delayed adverse events (AEs). The study integrated safety data on venetoclax in leuk...
Parent coaching emerges as a preferred approach for enhancing performance and participation of children with developmental disabilities (DD), but limited clinical trials examine its effects on communi...
To evaluate whether parent coaching, specifically using Occupational Performance Coaching (OPC), enhances community participation among young children with DD....
A pilot double-blind randomized controlled trial was conducted. Parents of 50 children with DD (31 male, 19 female, mean age 4 years 10 months) were randomly assigned to the OPC group (n = 25) or pare...
Both groups showed significant improvements in parent-identified, goal-specific community participation after the intervention (mean difference [MD]=2.26-2.56), and these improvements were sustained d...
OPC, by coaching parents, could enhance goal-specific community participation in children with DD, producing effects similar to those achieved through parent consultation....
Vamorolone is a dissociative agonist of the glucocorticoid receptor that has shown similar efficacy and reduced safety concerns in comparison with prednisone in Duchenne muscular dystrophy (DMD). This...
A randomized, double-blind, placebo-controlled and prednisone-controlled clinical trial of 2 doses of vamorolone was conducted in participants with DMD, in the ages from 4 years to younger than 7 year...
A total of 121 participants with DMD were randomized. Vamorolone at a dose of 6 mg/kg/d showed maintenance of improvement for all motor outcomes to week 48 (e.g., for primary outcome, time to stand fr...
Improvements of motor outcomes seen with 6 mg/kg/d of vamorolone at 24 weeks of treatment were maintained to 48 weeks of treatment. Vamorolone at a dose of 6 mg/kg/d showed better maintenance of effec...
ClinicalTrials.gov Identifier: NCT03439670....
This study provides Class I evidence that for boys with DMD, the efficacy of vamorolone at a dose of 6 mg/kg/d was maintained over 48 weeks....
The aim of this study was to: (1) evaluate the anti-inflammatory effects of cannabidiol (CBD) on primary cultures of human gingival fibroblasts (HGFs) and (2) to clinically monitor the effect of CBD i...
The use of phytocannabinoids is a new approach in the treatment of widely prevalent periodontal disease....
Cannabinoid receptors were analyzed by western blot and interleukin production detected using enzyme immunoassay. Activation of the Nrf2 pathway was studied via monitoring the mRNA level of heme oxyge...
Human gingival fibroblasts were confirmed to express the cannabinoid receptor CB2. Lipopolysaccharide-induced cells exhibited increased production of pro-inflammatory IL-6 and IL-8, with deceasing lev...
Cannabidiol reduced inflammation and the growth of selected periodontal pathogenic bacteria. The clinical trial demonstrated a statistically significant improvement after CBD application. No adverse e...
Equitable representation of members from historically marginalized groups is important in clinical trials, which inform standards of care. The goal of this study was to characterize the demographics a...
We examined randomized controlled registrational and strategy trials published from 2000-2021 to determine the sex, race, and ethnicity of participants. Participation to incidence ratios (PIRs) were c...
Of the 87 included studies, 82 (94.2%) reported participant sex; 69 (79.3%) reported participant race; and 20 (23.0%) included ethnicity data. Only 17 (19.5%) studies enrolled American Indian/Alaskan ...
Standardized reporting methods for race and ethnicity and efforts to increase recruitment of marginalized groups would help ensure equity, rigor, and generalizability in RCTs of antibacterial agents a...
Alpha-lipoic acid, epalrestat, and mecobalamin are widely used as monotherapies for diabetic peripheral neuropathy. However, whether a triple-combination therapy with these three drugs is superior to ...
Nine randomized controlled trials were identified through a search on electronic databases such as PubMed, Web of Science, and Cochrane Library. The trial participants (N = 1153) were divided into the...
Therapeutic outcomes were better in the experimental group than in the control group (odds ratio: 3.74; 95 % confidence interval: 2.57-5.45; I...
For diabetic peripheral neuropathy, the triple-combination therapy may be more effective than monotherapy or dual therapy....
ASPEN-1 was a phase 3, randomized, double-blind, placebo-controlled study to evaluate the efficacy, duration of response, and safety of 2 doses of DaxibotulinumtoxinA for Injection (DAXI), a novel bot...
Adults (aged 18-80 years) with moderate-to-severe CD (Toronto Western Spasmodic Torticollis Rating Scale [TWSTRS] total score ≥20) were enrolled at 60 sites across 9 countries in Europe and North Amer...
Of 444 individuals screened, 301 were randomized to DAXI 125U (n = 125) or 250U (n = 130) or placebo (n = 46). DAXI 125U and 250U significantly improved the mean TWSTRS total score vs placebo (least s...
This study demonstrated that DAXI, at doses of 125U and 250U, is an effective, safe, long-acting, and well-tolerated treatment for CD....
ClinicalTrials.gov identifier (NCT03608397, submitted July 11, 2018) and EU Clinical Trials Register (ClinicalTrialsRegister.eu EudraCT identifier 2018-000446-19, submitted September 13, 2018). First ...
This study provides Class I evidence that in adults with moderate-to-severe idiopathic cervical dystonia, DAXI reduces dystonia more effectively than placebo....
Patients with heart failure experience high hospitalization. However, patients cannot recognize symptoms according to current approaches, which needs to be improved by new self-monitoring instruments ...
This was a single-blind, two-arm parallel group randomized controlled trial at the heart failure clinic of Tehran Heart Center (Tehran, Iran). Adult patients with a definitive diagnosis of heart failu...
From June to August 2017, 68 patients were included in the study. The overall age of participants was 55 (13.6) years old, and 71 % of patients were male. A significant association between the interve...
A self-monitoring traffic light diary can improve self-care behaviors and heart failure knowledge in patients with heart failure with reduced ejection fraction....
Iranian Registry of Clinical Trials IRCT2017021032476N1....
PMCID: PMC6262204....
Temstem is a smartphone app developed with and for clinical voice hearing individuals with the aim to reduce their voice hearing distress and improve social functioning....
A randomized controlled trial with adult outpatients suffering from distressing and frequent auditory verbal hallucinations (AVH) was conducted. Participants were randomized to unguided 'Temstem+AVH m...
44 Participants were allocated to Temstem and 45 to the control condition. No significant differences between the groups were found on both primary outcomes....
Our results do not support the effectiveness of stand-alone use of Temstem versus symptom monitoring on voice hearing distress or social functioning in voice hearing individuals. In order to potential...
Efforts have been made to develop an endoscopic screening system incorporating serological gastric cancer (GC) risk stratification (ABC classification) alongside annual population-based GC screening u...
In total, 1,206 individuals from Yurihonjo and Nikaho city, Akita Prefecture, were randomized through the minimization method using sex and age as allocation factors. The intervention study was conduc...
There were 24 detected GC lesions, with a GC detection rate of 1.9%. GC detection rates in the Ba-Endo and ABC-Endo groups were 2.0% and 1.8%, respectively, with no significant differences between gro...
There were no differences between Ba-Endo and ABC-Endo groups in GC detection rates. However, the rate of detected GCs that could be cured by endoscopic resection alone was significantly higher in the...
