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"@type": "Question",
"name": "Comment diagnostiquer une déficience en ureohydrolases ?",
"position": 1,
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"text": "Des tests sanguins et urinaires mesurant les niveaux d'urée et d'ammoniac sont effectués."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité des ureohydrolases ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests enzymatiques spécifiques et des analyses biochimiques sont utilisés."
}
},
{
"@type": "Question",
"name": "Quels symptômes indiquent un problème avec les ureohydrolases ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes comme la confusion, la fatigue et des troubles neurologiques peuvent apparaître."
}
},
{
"@type": "Question",
"name": "Les tests génétiques sont-ils utiles pour les ureohydrolases ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent identifier des mutations génétiques liées à des déficiences enzymatiques."
}
},
{
"@type": "Question",
"name": "Comment l'historique médical aide-t-il au diagnostic ?",
"position": 5,
"acceptedAnswer": {
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"text": "L'historique médical peut révéler des antécédents familiaux de troubles métaboliques."
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{
"@type": "Question",
"name": "Quels sont les symptômes d'une accumulation d'urée ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des nausées, des vomissements, et des troubles de la conscience."
}
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{
"@type": "Question",
"name": "Comment se manifeste une hyperammoniémie ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle se manifeste par des troubles neurologiques, des céphalées et des convulsions."
}
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{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent être plus graves chez les nourrissons et les jeunes enfants."
}
},
{
"@type": "Question",
"name": "Quels signes cliniques sont associés à une déficience en ureohydrolases ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme l'irritabilité, la léthargie et des troubles de l'alimentation peuvent apparaître."
}
},
{
"@type": "Question",
"name": "Peut-on avoir des symptômes sans déficience enzymatique ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, d'autres conditions médicales peuvent provoquer des symptômes similaires."
}
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{
"@type": "Question",
"name": "Peut-on prévenir les troubles liés aux ureohydrolases ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un dépistage précoce peut aider à gérer les risques."
}
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{
"@type": "Question",
"name": "Les conseils diététiques peuvent-ils prévenir ces troubles ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des conseils diététiques peuvent réduire le risque d'accumulation d'urée."
}
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{
"@type": "Question",
"name": "Le dépistage néonatal est-il recommandé ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le dépistage néonatal peut identifier les troubles métaboliques précocement."
}
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{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils la prévention ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de troubles peuvent justifier un suivi médical accru."
}
},
{
"@type": "Question",
"name": "Les vaccinations ont-elles un rôle dans la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les vaccinations ne préviennent pas directement les troubles liés aux ureohydrolases."
}
},
{
"@type": "Question",
"name": "Quel est le traitement principal pour les troubles liés aux ureohydrolases ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement principal est une restriction protéique et des suppléments d'arginine."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils aider à gérer les symptômes ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des médicaments peuvent être prescrits pour réduire les niveaux d'ammoniac."
}
},
{
"@type": "Question",
"name": "La dialyse est-elle une option de traitement ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, la dialyse peut être utilisée pour éliminer l'excès d'ammoniac dans les cas graves."
}
},
{
"@type": "Question",
"name": "Les thérapies nutritionnelles sont-elles efficaces ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une thérapie nutritionnelle adaptée peut aider à gérer les niveaux d'urée."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux pour ces troubles ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements expérimentaux, comme la thérapie génique, sont en cours d'étude."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec une hyperammoniémie ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications graves incluent des lésions cérébrales et des troubles neurologiques."
}
},
{
"@type": "Question",
"name": "Les troubles du comportement sont-ils une complication ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des troubles du comportement peuvent survenir en raison de l'accumulation d'ammoniac."
}
},
{
"@type": "Question",
"name": "Comment les complications affectent-elles la qualité de vie ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications peuvent gravement affecter la qualité de vie et nécessiter des soins constants."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié, d'autres non."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles survenir à tout âge ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications peuvent survenir à tout âge, mais sont plus fréquentes chez les jeunes."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les troubles des ureohydrolases ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des maladies métaboliques et des régimes inappropriés."
}
},
{
"@type": "Question",
"name": "L'alimentation joue-t-elle un rôle dans les facteurs de risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation riche en protéines peut augmenter le risque d'accumulation d'urée."
}
},
{
"@type": "Question",
"name": "Les infections peuvent-elles aggraver les troubles ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections peuvent exacerber les symptômes et augmenter les niveaux d'ammoniac."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux influencent-ils ces troubles ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des facteurs environnementaux comme la pollution peuvent affecter le métabolisme."
}
},
{
"@type": "Question",
"name": "Les médicaments peuvent-ils être un facteur de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains médicaments peuvent interférer avec le métabolisme de l'urée et des enzymes."
}
}
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Maternal cytomegalovirus (CMV) infection in pregnancy may result in vertical transmission of CMV to the child. Long-term effects of congenital CMV infection include visual, cognitive as well as neurol...
The Norwegian Mother, Father and Child Cohort Study (MoBa) is a prospective population-based pregnancy cohort that includes 95 200 mothers and 114 500 children. Blood samples were obtained from mother...
Among mothers of cases, 63.2% were CMV-IgG positive in the sample at birth, as compared to 55.9% among controls; OR 1.36, (95% CI; 1.05 to 1.76). Also, among case mothers, 8/118 (6.8%) initially seron...
This study shows a higher risk of delayed language development at three years of age in children born by mothers seropositive for CMV, compared to children born from seronegative mothers....
Young children from low-SES backgrounds are at higher risk for delayed language development, likely due to differences in their home language environment and decreased opportunities for back and forth...
To accelerate the use of outcome measures in rheumatology, we developed and evaluated a natural language processing (NLP) pipeline for extracting these measures from free-text outpatient rheumatology ...
We included all patients in RISE (2015-2018). The NLP pipeline extracted scores corresponding to 8 measures of rheumatoid arthritis (RA) disease activity (DA) and functional status (FS) documented in ...
We processed over 34 million notes from 854,628 patients, 158 practices, and 24 electronic health record (EHR) systems from RISE. Manual chart review revealed a sensitivity, positive predictive value ...
We developed an NLP pipeline to extract RA outcome measures from a national registry of notes from multiple EHR systems and found it to have good internal and external validity. This pipeline can faci...
Prenatal and infant daily exposures to pyrethroid pesticides (PYRs), used in the elimination of harmful organisms in the family environment and agricultural activities, may have an impact on children'...
To determine the impacts of prenatal and infant PYRs exposure on 2-year-old toddlers' language development....
From January 2016 to December 2018, women in the third trimester of pregnancy, in Yunnan rural area, China, were recruited, and the development of their newborns was observed from birth till the age o...
The median concentrations of 3PBA, 4F3PBA and DBCA creatinine-adjusted were 0.21, 0.19, and 0.15 μg/g in pregnancy, and 0.25, 0.72, and <LOD μg/g in infancy, respectively. The average scores of Langua...
Women in the third trimester of pregnancy and their infants were widely exposed to low-dose PYRs. Infant daily exposure to PYRs may negatively impact toddlers' language development, with the 6-8 month...
Simulation plays an important role as an alternative method for training of students, particularly in health education. As a result of coronavirus disease 2019 (COVID-19) restrictions of face-to-face ...
The scoping review aimed to determine what has been documented about simulation as a mode of clinical training in healthcare professions (HCPs) in order to guide speech-language pathology and audiolog...
A scoping review was conducted. Electronic bibliographic databases including Science Direct, PubMed, Scopus MEDLINE, ProQuest, Google Scholar and WorldCat were searched to identify peer reviewed publi...
A total of 32 articles met the inclusion criteria for this scoping review. Three themes emerged when reviewing the studies: (1) face-to-face simulations as a mode of clinical training, (2) virtual rea...
Current findings highlight the role and value of simulation as a clinical training mode during COVID-19 and beyond. However, there are aspects that need to be considered to ensure that this mode of cl...
Eight decades ago, a report on "a swamp fever-like disease in German troups in Lapland" was published in this journal. The disease outbreak had occurred in 1942 and affected more than 1000 soldiers at...
Developmental Language Disorder (DLD) remains prevalent for secondary school students and continues to compromise educational, social and vocational outcomes within and beyond school. Community-based ...
Twenty-one educators were interviewed across three schools to understand their perceptions and experiences of the project and their view(s) of what assisted or compromised early implementation. Data w...
Educators reported gaining increased knowledge and awareness of DLD, which supported a reframing of their perceptions of student behaviour and learning issues. They identified the project provided the...
Overall, the educators found the project and implementation of strategies doable, acceptable, important, and sustainable. We explore the features of project design that appeared to contribute to educa...
Rapid skin improvement is a key treatment goal of patients with moderate-to-severe psoriasis (PsO)....
To compare the speed of clinical improvement of approved biologics on the symptoms and signs of psoriasis assessed by patients using the validated Psoriasis Symptoms and Signs Diary (PSSD) through 12 ...
Psoriasis Study of Health Outcomes (PSoHO) is an international, prospective, non-interventional study that compares the effectiveness of anti-interleukin (IL)-17A biologics versus other biologics, tog...
Across cohorts and treatments, eligible patients (n = 1654) had comparable baseline PSSD scores. From Week 1, the anti-IL-17A cohort achieved significantly larger score improvements in PSSD summary sc...
Treatment with anti-IL-17A biologics, particularly ixekizumab, resulted in rapid and sustained patient-reported improvements in psoriasis symptoms and signs compared with other biologics in a real-wor...
To describe the associations between patient-to-nurse staffing ratios and rates of mortality, process of care events and vital sign documentation....
Secondary analysis of data from the evaluating processes of care and outcomes of children in hospital (EPOCH) cluster-randomised trial....
22 hospitals caring for children in Canada, Europe and New Zealand....
Eligible hospitalised patients were aged>37 weeks and <18 years....
The primary outcome was all-cause hospital mortality. Secondary outcomes included five events reflecting the process of care, collected for all EPOCH patients; the frequency of documentation for each ...
A total of 217 714 patient admissions accounting for 849 798 patient days over the course of the study were analysed. The overall mortality rate was 1.65/1000 patient discharges. The median (IQR) numb...
The data from this study challenge the assumption that lower patient-to-nurse ratios will improve the safety of paediatric care in contexts where ratios are low. The mechanism of these effects warrant...
EPOCH clinical trial registered on clinical trial.gov NCT01260831; post-results....
Hidden blood loss (HBL) is of increasing interest to spine surgeons. This retrospective study aimed to evaluate perioperative HBL and its risk factors in patients undergoing one-segment posterior circ...
We retrospectively studied 112 patients diagnosed with T-OPLL following posterior circumferential decompression surgery from August 2015 to June 2020. Patient demographics, blood loss-related paramete...
Forty-five men and 67 women were involved in this research, with an average age of 56.4 ± 10.2 years. The mean HBL was 459.6 ± 275.4 ml, accounting for 56.5% of the total blood loss. Multiple linear r...
A high proportion of HBL was found after posterior circumferential decompression surgery on T-OPLL during the perioperative period, which should not be overlooked. Double-layer sign, OOR > 60%, age, H...