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"description": "Comment diagnostiquer un isochromosome ?\nQuels tests génétiques sont utilisés ?\nLes isochromosomes sont-ils visibles en microscopie ?\nQuel rôle joue l'échographie dans le diagnostic ?\nLes tests prénataux peuvent-ils détecter les isochromosomes ?",
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"description": "Quels sont les facteurs de risque des isochromosomes ?\nL'exposition à des toxines augmente-t-elle le risque ?\nLes infections pendant la grossesse influencent-elles le risque ?\nLes traitements médicaux pendant la grossesse sont-ils un risque ?\nLe mode de vie maternel influence-t-il le risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer un isochromosome ?",
"position": 1,
"acceptedAnswer": {
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"text": "Le diagnostic se fait par analyse chromosomique, souvent via un caryotype."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont utilisés ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les tests incluent l'hybridation in situ et le séquençage de l'ADN."
}
},
{
"@type": "Question",
"name": "Les isochromosomes sont-ils visibles en microscopie ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils peuvent être identifiés par microscopie après coloration des chromosomes."
}
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{
"@type": "Question",
"name": "Quel rôle joue l'échographie dans le diagnostic ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'échographie peut détecter des anomalies congénitales associées aux isochromosomes."
}
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{
"@type": "Question",
"name": "Les tests prénataux peuvent-ils détecter les isochromosomes ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des tests comme l'amniocentèse peuvent révéler des isochromosomes."
}
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{
"@type": "Question",
"name": "Quels sont les symptômes des isochromosomes ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes varient, incluant des malformations congénitales et des retards de développement."
}
},
{
"@type": "Question",
"name": "Les isochromosomes causent-ils des troubles mentaux ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent être associés à des troubles du développement intellectuel."
}
},
{
"@type": "Question",
"name": "Y a-t-il des symptômes physiques spécifiques ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies physiques comme des malformations cardiaques peuvent survenir."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon le type d'isochromosome ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes dépendent du chromosome affecté et de la région impliquée."
}
},
{
"@type": "Question",
"name": "Les isochromosomes affectent-ils la croissance ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils peuvent entraîner un retard de croissance et des problèmes de développement."
}
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{
"@type": "Question",
"name": "Peut-on prévenir les isochromosomes ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de méthode de prévention, mais des conseils génétiques peuvent aider."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal aide-t-il à prévenir les isochromosomes ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le dépistage prénatal peut identifier les risques, mais ne prévient pas les isochromosomes."
}
},
{
"@type": "Question",
"name": "Les antécédents familiaux influencent-ils le risque ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des antécédents familiaux de troubles chromosomiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "Les habitudes de vie affectent-elles le risque d'isochromosomes ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines habitudes peuvent influencer la santé génétique, mais pas directement les isochromosomes."
}
},
{
"@type": "Question",
"name": "Les conseils génétiques sont-ils utiles ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils aident à évaluer le risque et à informer les familles sur les options."
}
},
{
"@type": "Question",
"name": "Quel traitement est recommandé pour les isochromosomes ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement est symptomatique et peut inclure des thérapies de soutien."
}
},
{
"@type": "Question",
"name": "Les interventions chirurgicales sont-elles nécessaires ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des interventions peuvent être nécessaires pour corriger des malformations physiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des médicaments spécifiques pour traiter les isochromosomes ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il n'existe pas de médicaments spécifiques, le traitement est symptomatique."
}
},
{
"@type": "Question",
"name": "Comment la thérapie physique aide-t-elle ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie physique peut améliorer la motricité et le développement physique."
}
},
{
"@type": "Question",
"name": "Les soins psychologiques sont-ils nécessaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un soutien psychologique peut être bénéfique pour les patients et les familles."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec les isochromosomes ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des malformations congénitales et des troubles de la croissance."
}
},
{
"@type": "Question",
"name": "Les isochromosomes augmentent-ils le risque de cancer ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent un lien entre isochromosomes et risque accru de cancer."
}
},
{
"@type": "Question",
"name": "Y a-t-il des complications à long terme ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications à long terme peuvent inclure des retards de développement et des troubles mentaux."
}
},
{
"@type": "Question",
"name": "Les complications varient-elles selon le type d'isochromosome ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les complications dépendent du chromosome affecté et de la gravité des anomalies."
}
},
{
"@type": "Question",
"name": "Les soins médicaux réguliers sont-ils nécessaires ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un suivi médical régulier est essentiel pour gérer les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque des isochromosomes ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent l'âge maternel avancé et des antécédents familiaux de troubles chromosomiques."
}
},
{
"@type": "Question",
"name": "L'exposition à des toxines augmente-t-elle le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines études suggèrent que l'exposition à des toxines peut augmenter le risque."
}
},
{
"@type": "Question",
"name": "Les infections pendant la grossesse influencent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines infections peuvent affecter le développement chromosomique du fœtus."
}
},
{
"@type": "Question",
"name": "Les traitements médicaux pendant la grossesse sont-ils un risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains traitements peuvent avoir des effets sur le développement chromosomique."
}
},
{
"@type": "Question",
"name": "Le mode de vie maternel influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le mode de vie, y compris l'alimentation et le stress, peut influencer le risque."
}
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Medical students and professionals often struggle to understand medical test results, which can lead to poor medical decisions. Natural frequency tree-based training (NF-TT) has been suggested to help...
We conducted a parallel group randomized controlled trial of NF-TT vs. CP-FT in two medical schools in South Korea (a 1:1 allocation ratio). Participants were randomly assigned to watch either NF-TT o...
Overall, NF-TT was not more effective than CP-FT in improving the predictive value estimation accuracy at post-intervention (NF-TT: 87.13%, CP-FT: 86.03%, p = .86) and follow-up (NF-TT: 72.39%, CP-FT:...
Introducing NF-TT early in the medical school curriculum, before students are exposed to a pervasive conditional probability formula-based approach, would offer the greatest benefit....
Korea Disease Control and Prevention Agency Clinical Research Information Service KCT0004246 (the date of first trial registration: 27/08/2019). The full trial protocol can be accessed at https://cris...
Cardiopulmonary exercise testing (CPET) has an important prognostic value in adults with different congenital heart defects (CHDs) and is a useful tool for risk stratification and clinical decision-ma...
411 CPET performed by paediatric patients with different CHDs were evaluated in this retrospective study. Medical records were reviewed to determine the presence of cardiac events. Participants were c...
411 patients with a median age at test of 12 years, 51 patients with simple CHD, 170 patients with moderate complexity CHD and 190 with high complexity CHD underwent CPET. Overall, CPET parameters wer...
Reduced exercise capacity at young age is related to a higher probability of future cardiovascular events in paediatric patients with CHD. Submaximal exercise variables can be used instead when maxima...
Based on the upper airway anatomy and joint function parameters examined by ultrasound, a multiparameter ultrasound model for difficult airway assessment (ultrasound model) was established, and we eva...
A prospective case-cohort study of difficult airway prediction in adult patients undergoing elective surgery with endotracheal intubation under general anesthesia, and ultrasound phantom examination f...
We successfully enrolled 1000 patients, including 51 with difficult laryngoscopy (DL) and 26 with difficult tracheal intubation (DTI). The area under the ROC curve (AUC) for the ultrasound model to pr...
The ultrasound model has good predictive performance for difficult airways....
This study is registered on chictr.org.cn (ChiCTR-ROC-17013258); principal investigator: Jianling Xu; registration date: 06/11/2017)....
BACKGROUND : Advanced serrated polyps (ASPs) have a comparable risk to advanced adenomas for progression to colorectal cancer (CRC). The yield of most CRC screening programs, however, is based on adva...
To determine if the sensitivity of the lateral flow test is dependent on the viral load and on the location of swabbing in the respiratory tract in children....
Phase 1: Routinely performed reverse transcriptase PCR (RT-PCR) using nose and throat (NT) swabs or endotracheal (ET) aspirates were compared with Innova lateral flow tests (LFTs) using anterior nasal...
Tertiary paediatric hospitals....
Children under the age of 18 years. Phase 1: undergoing routine testing, phase 2: known SARS-CoV-2 positive....
Phase 1: 435 paired swabs taken in 431 asymptomatic patients resulted in 8 positive RT-PCRs, 9 PCR test failures and 418 negative RT-PCRs from NT or ET swabs. The test performance of AN LFT demonstrat...
The NPV, PPV and specificity of LFTs are excellent. The sensitivity of LFTs compared with RT-PCR is good when the samples are colocated but may be reduced when the LFT swab is taken from the AN. Bucca...
NCT04629157....
New-onset atrial fibrillation (NOAF) is a common adverse outcome in acute ST-segment elevation myocardial infarction (STEMI) patients following percutaneous coronary intervention (PCI) and is associat...
445 elderly STEMI patients without a history of atrial fibrillation (AF) who underwent PCI were consecutively enrolled in this study. Multivariate logistic regression analysis was used to identify ind...
50 patients (11.2%) developed NOAF after PCI. Multivariate logistic regression analysis revealed that heart rate (HR), systemic immune-inflammation index (SII), uric acid (UA), PAR, and C...
The combination of PAR and the C...
Identifying patients presenting with nonspecific abdominal symptoms who have underlying cancer is a challenge. Common blood tests are widely used to investigate these symptoms in primary care, but the...
Using data from the UK Clinical Practice Research Datalink (CPRD) linked to the National Cancer Registry, Hospital Episode Statistics and Index of Multiple Deprivation, we conducted a population-based...
In patients consulting with nonspecific abdominal symptoms, the assessment of cancer risk based on symptoms, age and sex alone can be substantially enhanced by considering additional information from ...
To determine the positive predictive value (PPV) of a sepsis-screening protocol in patients with cervical spinal cord injury (SCI)....
Retrospective review of all patients with cervical SCI who screened positive for two or more systemic inflammatory response syndrome (SIRS) criteria while hospitalized in acute care or inpatient rehab...
A total of 134 patients screened positive for two or more SIRS criteria. Of these, 36 patients (26.9%) were diagnosed with sepsis. Factors associated with a true-positive SIRS screen on multivariable ...
Sepsis screening using SIRS criteria in hospitalized patients with tetraplegia has a PPV of 26.9%; it is significantly higher in patients with AIS A-C versus D injuries. AMS, when combined with a posi...
Exploring the predictive value of NLR, PLR, MLR, and SII for the severity of cervical cancer screening abnormalities in patients....
A retrospective analysis was conducted on the data of 324 patients suspected of cervical lesions due to abnormal TCT and/or HPV in our hospital from January 2023 to December 2023, who underwent colpos...
The levels of NLR, PLR, and SII in the group without cervical lesions were lower than those in the group with cervical lesions (p < 0.05), and there was no statistically significant difference in MLR ...
Although the peripheral blood NLR, PLR, and SII of the cervical lesions patients were higher than those without cervical lesions in cervical cancer screening abnormal patients, the predictive ROC curv...
This study aimed to evaluate the diagnostic value of a non-invasive methylation gene test in clinical colorectal tumour screening....
The quantitative methylation-specific PCR technique was used to detect faecal methylated syndecan-2 (mSDC2) in patients who received the screening of colorectal cancer (CRC).To evaluate the positive p...
The PPV of CRC, CRC + AA and CRN in male patients were 28.03%, 43.55% and 56.24%, respectively, which were higher than female patients. The positive detection rate of mSDC2 and the PPV of CRC graduall...
The mSDC2 test has a higher PPV in patients with colorectal cancer and colorectal adenoma (AD), especially in high-risk groups over 50 years of age, and may help in the early diagnosis of colorectal t...