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"description": "Comment établir un pedigree familial ?\nQuels outils pour analyser un pedigree ?\nQuelle est l'importance du pedigree en médecine ?\nComment interpréter un pedigree ?\nQuelles maladies peuvent être identifiées par un pedigree ?",
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"name": "Comment établir un pedigree familial ?",
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"text": "Un pedigree est établi en collectant des informations sur les membres de la famille et leurs maladies."
}
},
{
"@type": "Question",
"name": "Quels outils pour analyser un pedigree ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des logiciels de généalogie et des diagrammes sont utilisés pour visualiser les relations et les maladies."
}
},
{
"@type": "Question",
"name": "Quelle est l'importance du pedigree en médecine ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il aide à identifier les risques héréditaires et à orienter le dépistage et le traitement."
}
},
{
"@type": "Question",
"name": "Comment interpréter un pedigree ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "On analyse les symboles et les lignes pour comprendre les transmissions héréditaires."
}
},
{
"@type": "Question",
"name": "Quelles maladies peuvent être identifiées par un pedigree ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des maladies comme la fibrose kystique, la maladie de Huntington et d'autres troubles génétiques."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent indiquer une maladie héréditaire ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des symptômes variés comme des anomalies congénitales, des troubles métaboliques ou neurologiques."
}
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{
"@type": "Question",
"name": "Comment les symptômes varient selon les générations ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent apparaître différemment selon les générations en raison de la variabilité génétique."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils toujours présents dans un pedigree ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, certains porteurs de gènes peuvent ne pas exprimer de symptômes visibles."
}
},
{
"@type": "Question",
"name": "Peut-on prédire des symptômes à partir d'un pedigree ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, un pedigree peut aider à prédire la probabilité d'apparition de certains symptômes."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes de la maladie de Huntington ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des troubles moteurs, cognitifs et psychiatriques, souvent visibles à l'âge adulte."
}
},
{
"@type": "Question",
"name": "Comment prévenir les maladies héréditaires ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention inclut le dépistage, le conseil génétique et des choix de vie sains."
}
},
{
"@type": "Question",
"name": "Le dépistage prénatal est-il utile ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il permet de détecter certaines maladies génétiques avant la naissance."
}
},
{
"@type": "Question",
"name": "Quels tests génétiques sont recommandés ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests pour des maladies spécifiques peuvent être recommandés selon les antécédents familiaux."
}
},
{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il la prévention ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie sain peut réduire le risque d'expression de certaines maladies héréditaires."
}
},
{
"@type": "Question",
"name": "Les vaccinations aident-elles à prévenir des maladies héréditaires ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les vaccinations ne préviennent pas les maladies héréditaires, mais elles préviennent d'autres infections."
}
},
{
"@type": "Question",
"name": "Comment le pedigree influence-t-il le traitement ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Il permet de personnaliser les traitements en fonction des antécédents familiaux et des risques."
}
},
{
"@type": "Question",
"name": "Quels traitements pour les maladies héréditaires ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements varient, incluant la thérapie génique, les médicaments et la gestion des symptômes."
}
},
{
"@type": "Question",
"name": "Le dépistage précoce est-il important ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, il permet d'initier un traitement précoce et d'améliorer le pronostic des maladies héréditaires."
}
},
{
"@type": "Question",
"name": "Quels sont les traitements pour la fibrose kystique ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les traitements incluent des médicaments, des thérapies respiratoires et des soins de soutien."
}
},
{
"@type": "Question",
"name": "Comment les conseils génétiques aident-ils au traitement ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Ils fournissent des informations sur les risques et les options de traitement pour les familles."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir avec des maladies héréditaires ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications variées comme des troubles organiques, des handicaps ou des maladies associées."
}
},
{
"@type": "Question",
"name": "Comment gérer les complications des maladies héréditaires ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "La gestion inclut un suivi médical régulier et des traitements adaptés aux complications."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être prévisibles grâce à l'analyse du pedigree et des antécédents."
}
},
{
"@type": "Question",
"name": "Quelles sont les complications de la maladie de Tay-Sachs ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les complications incluent des troubles neurologiques graves et une espérance de vie réduite."
}
},
{
"@type": "Question",
"name": "Les complications peuvent-elles être évitées ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être évitées par un dépistage et une intervention précoce."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour les maladies héréditaires ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les facteurs incluent des antécédents familiaux, des mutations génétiques et des facteurs environnementaux."
}
},
{
"@type": "Question",
"name": "Comment les antécédents familiaux influencent-ils le risque ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des antécédents familiaux de maladies augmentent la probabilité de développer des conditions similaires."
}
},
{
"@type": "Question",
"name": "Les facteurs environnementaux jouent-ils un rôle ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains facteurs environnementaux peuvent interagir avec des prédispositions génétiques."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils identifier des facteurs de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests peuvent révéler des mutations génétiques associées à des maladies héréditaires."
}
},
{
"@type": "Question",
"name": "Comment réduire les facteurs de risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "On peut réduire les facteurs de risque par des choix de vie sains et un suivi médical régulier."
}
}
]
}
]
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The predictive value of immunological fecal occult blood (iFOB) testing for the screening of colorectal cancer has been well described in the Western world. However, its relevance in Sub-Saharan Afric...
We conducted an analytical cross-sectional study in two digestive endoscopic centers of Yaoundé (Cameroon) from the 1...
We included 103 patients during the study period with a male predominance and a sex ratio of 1.7. The median age [IQR] was 52 [38-65] years (range 1 - 84 years). The most common colonoscopic lesions w...
The iFOB test has a good NPV, but a poor PPV for the diagnosis of CRC in our study....
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...