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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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"@type": "Question",
"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."
}
},
{
"@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."
}
}
]
}
]
}
Postoperative deterioration is often preceded by abnormal vital parameters. Therefore, vital parameters of postoperative patients are routinely measured by nursing staff. Wrist-worn sensors could pote...
This study aimed to assess the accuracy of heart rate (HR) and respiratory rate (RR) measures obtained via a wearable photoplethysmography (PPG) wristband in a cohort of postoperative patients....
The accuracy of the wrist-worn PPG sensor was assessed in 62 post-abdominal surgery patients (mean age 55, SD 15 years; median BMI 34, IQR 25-40 kg/m...
Data were collected for a median of 1.2 hours per patient. With a coverage of 94% for HR and 34% for RR, the device was able to provide accurate measurements for the large majority of the measurements...
The wrist-worn PPG device is able to provide measurements of HR and RR that can be seen as sufficiently accurate for clinical applications. Considering the coverage, the device was able to continuousl...
ClinicalTrials.gov NCT03923127; https://www.clinicaltrials.gov/ct2/show/NCT03923127....
The aim of this study was to evaluate generalization ability of segmentation accuracy for limited FOV CBCT in the male pelvic region using a full-image CNN. Auto-segmentation accuracy was evaluated us...
A total of 171 CBCT datasets from patients with prostate cancer were enrolled. There were 151, 10, and 10 CBCT datasets acquired from Vero4DRT, TrueBeam STx, and Clinac-iX, respectively. The FOV for V...
The mean scores ± standard deviation of visual evaluation for bladder, prostate, rectum, and seminal vesicle in all treatment machines were 1.0 ± 0.7, 1.5 ± 0.6, 1.4 ± 0.6, and 2.1 ± 0.8 points, respe...
The proposed method is effective for testing datasets with different intensity distributions and FOV from training datasets....
Purpose: To compare the U-tube and cusp dynamic navigation system registration methods in the use of dental implant placement, and to assess the influence of the location of missing teeth on these reg...
Ultrasound attenuation analysis (USAT) is a type of novel ultrasound attenuation imaging that can be used to detect hepatic steatosis based on the attenuation coefficient. We sought to evaluate the di...
In total, 326 consecutive subjects with or without chronic liver diseases were enrolled in this study who underwent CAP examination and USAT to evaluate hepatic steatosis from October 2022 to November...
A total of 296 patients were recruited, including 101 (34.1%) patients with NAFLD, 172 (58.1%) with CHB and the remainder were healthy control subjects (7.8%). We used the CAP as the reference standar...
USAT had a strong association with CAP and a good diagnostic capability in the detection of hepatic steatosis, which appears to be a promising tool for the non-invasive detection and quantification of...
Evaluation of the diagnostic performance and reproducibility of the Ovarian-Adnexal Reporting and Data System (O-RADS) Magnetic Resonance Imaging (MRI) risk stratification system based on enhanced non...
Patients who underwent conventional pelvic enhanced non-DCE MRI examination within one month prior to surgery formed the study population. Two experienced radiologists independently evaluated the imag...
A total of 308 patients (mean age: 42.09 ± 12.42 years, age range: 20-84 years) were enrolled in the study. Among the 362 adnexal masses from the included patients, there were 320 benign masses and 42...
The O-RADS MRI risk stratification system based on enhanced non-DCE MRI scans exhibited high accuracy and reproducibility in the prediction of adnexal masses malignancy. Enhanced non-DCE MRI scan may ...
Studies on the antifungal activity, flexural strength, Vickers hardness, and intaglio surface trueness of three-dimensionally printed (3DP) denture bases with microencapsulated phytochemicals with res...
Specimens of various shapes and dimensions were fabricated with a 3DP denture base resin mixed with 5 wt% phytoncide-filled microcapsules. Each specimen was subjected to different PPT protocols of 5, ...
The specimens with microcapsules and 10-min PPT showed the highest antifungal activity among the tested groups. Compared with the positive control group (5-min PPT), the specimens with PPTs of 10 min ...
The 3DP denture base filled with microencapsulated phytoncide showed different antifungal activity and physical properties on changing PPT. The 3DP denture base containing phytoncide-filled microcapsu...
To identify the most accurate diagnostic imaging modality to detect optic disc drusen (ODD) between B-scan ultrasonography (US), fundus photography, fundus autofluorescence (FAF), and enhanced depth i...
Comparative diagnostic analysis....
Two hundred five eyes of 105 patients referred to 2 tertiary care neuro-ophthalmology clinics for suspected ODD were recruited: 108 eyes had ODD and 97 did not have ODD. All eyes received a full in-pe...
The EDI-OCT had the highest sensitivity and accuracy (95%, 97%) to detect ODD, compared with FAF (84%, 92%), US (74%, 86%), and fundus photography (38%, 66%), respectively. All image modalities had hi...
Among all modalities, EDI-OCT was the imaging modality with the highest diagnostic utility for the detection of ODD and should be considered as the preferred initial diagnostic modality....
Pulse oximeters are a standard non-invasive tool to measure blood oxygen levels, and are used in multiple healthcare settings. It is important to understand the factors affecting their accuracy to be ...
The study design was a retrospective observational study of all patients admitted to a large teaching hospital with suspected or confirmed COVID-19 infection from February 2020 to December 2021. Data ...
Data were available for 3420 patients with 5927 observations of blood oxygen saturations as measured by pulse oximetry and ABG sampling within 30 min. The difference in oxygen saturation using the pai...
Care needs to be taken in interpreting pulse oximetry measurements in patients with lower systolic and diastolic BPs, and HRs, as oxygen saturation is overestimated as BP and HR decrease. Confirmation...
This study aims to investigate the effects of the position correction of size-specific dose estimates (SSDE) on patient dose estimation in cone beam computed tomography (CBCT). The relationship betwee...