Nom anglais: CDPdiacylglycerol-Serine O-Phosphatidyltransferase
Descriptor UI:D010717
Tree Number:D08.811.913.696.900.150
Termes MeSH sélectionnés :
Observer Variation
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"headline": "Diagnostic sur CDPdiacylglycerol-serine O-phosphatidyltransferase",
"description": "Comment diagnostiquer une déficience en CDPdiacylglycerol-serine O-phosphatidyltransferase ?\nQuels tests sont utilisés pour évaluer l'activité de l'enzyme ?\nY a-t-il des biomarqueurs associés à cette enzyme ?\nQuels symptômes peuvent alerter sur un problème enzymatique ?\nPeut-on utiliser l'imagerie pour diagnostiquer des anomalies ?",
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"description": "Quels traitements sont disponibles pour cette déficience ?\nLa thérapie génique est-elle une option ?\nDes médicaments spécifiques existent-ils ?\nComment la nutrition influence-t-elle le traitement ?\nY a-t-il des traitements expérimentaux en cours ?",
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"headline": "Facteurs de risque sur CDPdiacylglycerol-serine O-phosphatidyltransferase",
"description": "Quels sont les facteurs de risque pour cette déficience ?\nL'environnement joue-t-il un rôle ?\nLes maladies métaboliques augmentent-elles le risque ?\nY a-t-il des groupes à risque particulier ?\nComment le mode de vie influence-t-il le risque ?",
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"@type": "Question",
"name": "Comment diagnostiquer une déficience en CDPdiacylglycerol-serine O-phosphatidyltransferase ?",
"position": 1,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le diagnostic repose sur des tests enzymatiques et des analyses génétiques."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour évaluer l'activité de l'enzyme ?",
"position": 2,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests biochimiques mesurant l'activité enzymatique dans des échantillons cellulaires."
}
},
{
"@type": "Question",
"name": "Y a-t-il des biomarqueurs associés à cette enzyme ?",
"position": 3,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des biomarqueurs lipidiques peuvent indiquer une dysfonction de l'enzyme."
}
},
{
"@type": "Question",
"name": "Quels symptômes peuvent alerter sur un problème enzymatique ?",
"position": 4,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des troubles métaboliques ou des anomalies dans la composition lipidique peuvent survenir."
}
},
{
"@type": "Question",
"name": "Peut-on utiliser l'imagerie pour diagnostiquer des anomalies ?",
"position": 5,
"acceptedAnswer": {
"@type": "Answer",
"text": "L'imagerie peut aider à visualiser des complications, mais n'est pas spécifique."
}
},
{
"@type": "Question",
"name": "Quels sont les symptômes d'une déficience en cette enzyme ?",
"position": 6,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes incluent des troubles neurologiques et des anomalies métaboliques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des signes cliniques spécifiques ?",
"position": 7,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des signes comme des troubles de la croissance ou des problèmes de reproduction peuvent apparaître."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon l'âge ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent se manifester différemment selon l'âge du patient."
}
},
{
"@type": "Question",
"name": "Des symptômes peuvent-ils être confondus avec d'autres maladies ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certains symptômes peuvent ressembler à ceux d'autres troubles métaboliques."
}
},
{
"@type": "Question",
"name": "Comment les symptômes évoluent-ils dans le temps ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les symptômes peuvent s'aggraver avec le temps si non traités."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir les déficiences enzymatiques ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "La prévention est difficile, mais un diagnostic précoce peut aider à gérer la condition."
}
},
{
"@type": "Question",
"name": "Y a-t-il des conseils diététiques pour prévenir des problèmes ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée riche en acides gras essentiels peut être bénéfique."
}
},
{
"@type": "Question",
"name": "Les tests génétiques peuvent-ils aider à la prévention ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les tests génétiques peuvent identifier les porteurs et aider à la planification familiale."
}
},
{
"@type": "Question",
"name": "Des programmes de sensibilisation existent-ils ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des programmes éducatifs peuvent sensibiliser aux troubles métaboliques héréditaires."
}
},
{
"@type": "Question",
"name": "Comment le suivi médical contribue-t-il à la prévention ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi régulier permet de détecter précocement les anomalies et d'ajuster le traitement."
}
},
{
"@type": "Question",
"name": "Quels traitements sont disponibles pour cette déficience ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments lipidiques et une thérapie diététique."
}
},
{
"@type": "Question",
"name": "La thérapie génique est-elle une option ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "La thérapie génique est en recherche, mais pas encore largement disponible."
}
},
{
"@type": "Question",
"name": "Des médicaments spécifiques existent-ils ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de médicaments spécifiques approuvés pour cette condition."
}
},
{
"@type": "Question",
"name": "Comment la nutrition influence-t-elle le traitement ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une nutrition adéquate peut aider à gérer les symptômes et améliorer la santé globale."
}
},
{
"@type": "Question",
"name": "Y a-t-il des traitements expérimentaux en cours ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des études cliniques explorent de nouvelles approches thérapeutiques."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des complications neurologiques et métaboliques peuvent se développer si non traitées."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles réversibles ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être réversibles avec un traitement approprié."
}
},
{
"@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 un soutien."
}
},
{
"@type": "Question",
"name": "Y a-t-il des risques de maladies associées ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des maladies métaboliques ou neurologiques peuvent être associées à cette déficience."
}
},
{
"@type": "Question",
"name": "Comment prévenir les complications ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un suivi médical régulier et un traitement précoce peuvent aider à prévenir les complications."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour cette déficience ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les antécédents familiaux et certaines mutations génétiques augmentent le risque."
}
},
{
"@type": "Question",
"name": "L'environnement joue-t-il un rôle ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des facteurs environnementaux peuvent influencer l'expression des gènes liés à l'enzyme."
}
},
{
"@type": "Question",
"name": "Les maladies métaboliques augmentent-elles le risque ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, certaines maladies métaboliques peuvent prédisposer à des déficiences enzymatiques."
}
},
{
"@type": "Question",
"name": "Y a-t-il des groupes à risque particulier ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes avec des antécédents familiaux de troubles lipidiques sont à risque."
}
},
{
"@type": "Question",
"name": "Comment le mode de vie influence-t-il le risque ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Un mode de vie malsain peut exacerber les symptômes et augmenter le risque de complications."
}
}
]
}
]
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Establishing the reproducibility of expert-derived measurements on CTA exams of aortic dissection is clinically important and paramount for ground-truth determination for machine learning....
Four independent observers retrospectively evaluated CTA exams of 72 patients with uncomplicated Stanford type B aortic dissection and assessed the reproducibility of a recently proposed combination o...
Pre-training ICCs of the four morphologic features ranged from 0.04 (-0.05 to 0.13) to 0.68 (0.49-0.81) between observer 1 and observers 2-4 and from 0.50 (0.32-0.69) to 0.89 (0.78-0.95) between obser...
Manual morphologic feature measurements on CTA images can be optimized resulting in improved inter-observer reliability. This is essential for robust ground-truth determination for machine learning mo...
• Clinical fashion manual measurements of aortic CTA imaging features showed poor inter-observer reproducibility. • A standardized workflow with standardized training resulted in substantial improveme...
Thyroid eye disease (TED) can be difficult to manage. The range of available treatments is expanding rapidly; however, cost is a concern and some patients do not respond. The Clinical Activity Score (...
Prospective reliability analysis....
Nine patients with a spectrum of clinical features of TED were assessed by 6 experienced observers on the same day. Agreement among the observers was analyzed using the Krippendorff alpha....
The Krippendorff alpha for the total CAS was 0.532 (95% CI = 0.199-0.665), whereas alpha values for the individual components of the CAS varied between 0.171 (CI = 0.000-0.334) for lid redness and 0.6...
This study has shown unreliable inter-observer variability in total CAS and most individual CAS components, thus highlighting the need for improving the performance of the CAS or seeking other methods...
A trauma resuscitation is dynamic and complex process in which failures could lead to serious adverse events. In several trauma centers, evaluation of trauma resuscitation is part of a hospital's qual...
In this prospective observational study, validity was assessed by comparing the observed adherence to 28 advanced trauma life support (ATLS) guideline related tasks by video analysis to life observati...
Eleven simulated and thirteen real-life resuscitations were assessed. Overall, the percentage of observed ATLS related tasks performed during simulated resuscitations was 10.4% (P < 0.001) higher when...
Video analysis of trauma resuscitations may be more valid and reliable compared to evaluation by live observers. These outcomes may guide the debate to justify video review instead of live observation...
Most displaced distal radius fractures (DRF) are treated nonoperatively, with reduction and immobilization in a cast. Studies assessing intra- or inter-observer agreement on radiologic measurements of...
Our study is based on the Kuopio Osteoporosis Risk Factor and Prevention (OSTPRE) study. All detected DRFs during the OSTPRE follow-up were retrieved and based on sample size calculations 50 fractures...
For radial inclination, radial shortening, and dorsal/volar tilt, intra- and inter-observer correlations were high (CCC > 0.76). In addition, measurements of wrist angle in a splint had high correlati...
Intra- and inter-observer repeatability of casting position of radial inclination, radial shortening, and dorsal/volar tilt were high whereas intra-articular gap and step had poor correlations....
Non-cystic fibrosis bronchiectasis is a clinically important disease with an estimated 340,000-522,000 persons living with the disease and 70,000 being diagnosed annually. The radiographic diagnosis r...
To examine the inter-observer agreement between two retina specialists in grading diabetic retinopathy (DR) severity in ultra-wide-field fundus photographs....
Two hundred and seventy patients with diabetes, who visited the vitreoretinal specialty at a tertiary eye care hospital, with or without DR underwent comprehensive ophthalmic examination, dilated reti...
The two graders showed agreement in 229/270 images (84.8%) and disagreement in 41/270 images (15.2%). The unweighted kappa for agreement between graders was k = 0.715, SE = 0.037 and the weighted kapp...
The impact of disagreement noted between observers in grading DR on UWF fundus photographs should be considered when utilizing UWF system in clinical studies....
The current paradigm for evaluating computed tomography (CT) system performance relies on a task-based approach. As the Hotelling observer (HO) provides an upper bound of observer performances in spec...
Here we investigated the efficiency of a supervised ML-algorithm used to design a CO for predicting the performance of unconstrained HO. The ML-algorithm was applied either (1) in the estimator for di...
A channelized support vector machine (CSVM) was employed and compared against the CHO in terms of ability to predict HO performances. Both the CSVM and the CHO were estimated with channels derived fro...
The CSVM outperformed the CHO for all types of channels and regularization strategies. Furthermore, even though both COs generalized well to images reconstructed with the same regularization strategy ...
These results argue for introducing the supervised-learning paradigm in the detector function rather than in the operator of the channels when designing a CO to provide an accurate estimate of HO perf...
Patients with tonsillar cancer (TC) often have dental fillings that can significantly degrade the quality of computed tomography (CT) simulator images due to metal artifacts. We evaluated whether the ...
Eighteen patients with TC with dental fillings were enrolled in this study. Contrast-enhanced CT simulator images were reconstructed using the conventional (CT...
GTV...
The use of the MAR algorithm led to the delineation of smaller GTVs and reduced interobserver variations in delineating GTV of the primary tumors in patients with TC....
Qualitative observer-based and quantitative radiomics-based analyses of T1w contrast-enhanced magnetic resonance imaging (T1w-CE MRI) have both been shown to predict the outcomes of brain metastasis (...
Indeterminate lung nodules detected on CT are common findings in the clinical practice, and the correct assessment of their size is critical for patient evaluation and management. We compared the stab...