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Acides nucléiques, nucléotides et nucléosides
Nucléotides
Ribonucléotides
Nucléotides uridyliques
Uridine diphosphate
Uridine diphosphate : Questions médicales fréquentes
Termes MeSH sélectionnés :
Noninvasive Prenatal Testing
Diagnostic
5
Carence en nucléotides
Tests biochimiques
Tests enzymatiques
Chromatographie
Fatigue
Troubles neurologiques
Marqueurs biologiques
Enzymes
Symptômes
5
Fatigue
Troubles cognitifs
Système nerveux
Troubles neurologiques
Douleurs musculaires
Métabolisme énergétique
Troubles de l'humeur
Carence en nucléotides
Anomalies cutanées
Carence en nucléotides
Prévention
5
Prévention
Alimentation équilibrée
Suppléments
Régime alimentaire
Groupes à risque
Troubles métaboliques
Habitudes de vie
Exercice
Conseils nutritionnels
Nutritionniste
Traitements
5
Suppléments
Modifications alimentaires
Thérapies alternatives
Nutrition
Alimentation
Acides nucléiques
Traitements spécifiques
Troubles métaboliques
Complications
5
Complications neurologiques
Complications métaboliques
Développement cognitif
Enfants
Maladies chroniques
Carence en nucléotides
Maladies héréditaires
Métabolisme
Troubles immunitaires
Infections
Facteurs de risque
5
Facteurs de risque
Régimes alimentaires
Âge
Carence en nucléotides
Maladies génétiques
Synthèse
Habitudes alimentaires
Carence en nucléotides
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"@type": "Question",
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"@type": "Question",
"name": "Quels sont les symptômes d'une carence en UDP ?",
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"@type": "Question",
"name": "L'UDP influence-t-il l'humeur ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une carence en UDP peut affecter l'humeur et entraîner des troubles de l'humeur."
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"@type": "Question",
"name": "Y a-t-il des signes cutanés associés à l'UDP ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des anomalies cutanées peuvent apparaître, mais elles sont moins fréquentes."
}
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"@type": "Question",
"name": "Comment prévenir une carence en UDP ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une alimentation équilibrée riche en acides nucléiques peut aider à prévenir une carence."
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"@type": "Question",
"name": "Les suppléments sont-ils nécessaires pour l'UDP ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les suppléments peuvent être bénéfiques, surtout en cas de régime alimentaire pauvre."
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"@type": "Question",
"name": "Y a-t-il des groupes à risque pour l'UDP ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les personnes ayant des troubles métaboliques ou des régimes restrictifs sont à risque."
}
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"@type": "Question",
"name": "Les habitudes de vie influencent-elles l'UDP ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, des habitudes de vie saines, comme l'exercice, peuvent soutenir le métabolisme de l'UDP."
}
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"@type": "Question",
"name": "Des conseils nutritionnels existent-ils pour l'UDP ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, consulter un nutritionniste peut aider à élaborer un plan alimentaire adapté."
}
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"name": "Comment traiter une carence en UDP ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Le traitement peut inclure des suppléments d'uridine et des modifications alimentaires."
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"@type": "Question",
"name": "Les médicaments peuvent-ils aider à l'UDP ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains médicaments peuvent améliorer le métabolisme de l'UDP, mais nécessitent une prescription."
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"@type": "Question",
"name": "Y a-t-il des thérapies alternatives pour l'UDP ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des thérapies comme la nutrition ciblée peuvent être bénéfiques, mais nécessitent des études."
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"@type": "Question",
"name": "Les changements alimentaires sont-ils efficaces ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation riche en acides nucléiques peut aider à augmenter les niveaux d'UDP."
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"@type": "Question",
"name": "Des traitements spécifiques existent-ils pour l'UDP ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Actuellement, il n'existe pas de traitements spécifiques approuvés pour les troubles liés à l'UDP."
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"@type": "Question",
"name": "Quelles complications peuvent survenir avec une carence en UDP ?",
"position": 21,
"acceptedAnswer": {
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"text": "Des complications neurologiques et métaboliques peuvent survenir si non traitées."
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"@type": "Question",
"name": "L'UDP peut-il affecter le développement ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une carence en UDP peut nuire au développement cognitif et physique chez les enfants."
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"@type": "Question",
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"position": 23,
"acceptedAnswer": {
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"text": "Certaines maladies métaboliques chroniques peuvent être exacerbées par une carence en UDP."
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{
"@type": "Question",
"name": "Des troubles immunitaires peuvent-ils être liés à l'UDP ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Une carence en UDP peut affaiblir le système immunitaire, augmentant le risque d'infections."
}
},
{
"@type": "Question",
"name": "Quels sont les facteurs de risque pour l'UDP ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Les régimes alimentaires pauvres, les maladies métaboliques et le stress sont des facteurs de risque."
}
},
{
"@type": "Question",
"name": "L'âge influence-t-il les niveaux d'UDP ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les niveaux d'UDP peuvent diminuer avec l'âge, augmentant le risque de carence."
}
},
{
"@type": "Question",
"name": "Le stress peut-il affecter l'UDP ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, le stress chronique peut perturber le métabolisme de l'UDP et entraîner des carences."
}
},
{
"@type": "Question",
"name": "Les maladies génétiques influencent-elles l'UDP ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines maladies génétiques peuvent affecter la synthèse et l'utilisation de l'UDP."
}
},
{
"@type": "Question",
"name": "Les habitudes alimentaires jouent-elles un rôle ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, une alimentation déséquilibrée peut augmenter le risque de carence en UDP."
}
}
]
}
]
}
Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
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To investigate factors involved in the decision to decline prenatal screening with noninvasive prenatal testing (NIPT)....
A questionnaire study was conducted among 219 pregnant women in the Netherlands who had declined prenatal screening with NIPT (TRIDENT-2 study). Respondents were selectively recruited from three hospi...
Most respondents (77.2%) found the decision to decline NIPT easy to make, and 59.8% had already made the decision before information about NIPT was offered. These respondents were more often religious...
The primary factors involved in the decision to decline NIPT were related to personal values and beliefs, consistent with autonomous choice. Out-of-pocket costs of NIPT hinder equal access for some pr...
In the setting of a normal first-trimester ultrasound, an amniocentesis may be a better option than chorionic villous sampling for invasive diagnostic testing after a cell-free DNA high risk for triso...
To report a rare type of Pallister-Killian syndrome (PKS) diagnosed prenatally by the utility of non-invasive prenatal testing (NIPT)....
NIPT was performed in the first trimester. Conventional karyotyping and chromosomal microarray analysis (CMA) were performed on the amniotic samples in the second trimester. Copy number variation sequ...
NIPT results showed increased signal from chromosome 12p. Subsequent prenatal diagnostic testing by karyotype revealed 47, XY, +i (12p), and CMA displayed four copies of 12p: 12p13.33-12p11.1(173786_3...
Our findings suggest that a positive signal from chromosome 12p on NIPT should raise suspicion for PKS. With the wide application of NIPT, the true positive of incidental finding is expected to increa...
The purpose of this study was to evaluate the performance of noninvasive prenatal testing (NIPT) for the detection of chromosomal aneuploidies and copy number variations (CNVs) in twin pregnancies....
A cohort of 2010 women with twin pregnancies was recruited. 1331 patients opted for NIPT, and 679 patients opted for expanded NIPT (NIPT-plus). All high-risk patients were advised to undergo invasive ...
Twenty-two cases were predicted to have a high risk of chromosome abnormalities by NIPT, of which 14 pregnant women underwent invasive prenatal diagnosis. The 14 cases included 3 cases of trisomy 21, ...
The NIPT/NIPT-plus has excellent performance in the detection of chromosome aneuploidies in twin pregnancies. But for CNVs, the effectiveness of NIPT is poor, and the NIPT-plus have a certain detectio...
Noninvasive prenatal testing (NIPT) is the testing of blood samples from pregnant women to screen for fetal risk of chromosomal disorders. Even though in vitro hemolysis of blood specimens is common i...
Peripheral blood samples were collected from 205 pregnant women and categorized according to the concentration of free hemoglobin in the plasma. After performing NIPT using massively parallel sequenci...
The specimens were divided into four groups based on the concentration of free hemoglobin: Group I (0-1 g/L, n = 53), Group II (1-2 g/L, n = 97), Group III (2-4 g/L, n = 30), and Group IV (> 4 g/L, n ...
For NIPT using massively parallel sequencing, samples with slight or moderate hemolysis (≤ 4 g/L) are acceptable. However, careful consideration should be taken regarding the use of severely hemolyzed...
To evaluate the value of noninvasive prenatal testing (NIPT) in the screening of rare autosomal abnormalities and provide further support for the clinical application of NIPT....
A total of 81,518 pregnant women who underwent NIPT at the Anhui Maternal and Child Health Hospital between May 2018 and March 2022 were selected. The high-risk samples were analyzed using amniotic fl...
NIPT detected 292 cases (0.36%) with rare autosomal abnormalities among the 81,518 cases sampled. Of these, 140 (0.17%) showed rare autosomal trisomies (RATs), and 102 of these patients agreed to unde...
NIPT is not recommended for screening for RATs. However, considering that positive results are associated with an increased risk of IUGR and PTB, additional fetal ultrasound examination should be perf...
Numerous diseases and disorders are associated with mitochondrial DNA (mtDNA) mutations, among which m.1555A > G and m.1494C > T mutations in the 12 S ribosomal RNA gene contribute to aminoglycoside-i...
A total of 76,842 qualified non-invasive prenatal (NIPT) samples were subjected to mtDNA mutation and haplogroup analysis....
We detected 181 m.1555A > G and m.1494C > T mutations, 151 of which were subsequently sequenced for full-length mitochondrial genome verification. The positive predictive values for the m.1555A > G an...
Our findings indicate that the non-invasive prenatal testing of cell-free DNA obtained from maternal plasma can successfully detect m.1555A > G and m.1494C > T mutations....
Early and intermediate serological screening cannot detect sex chromosome abnormalities. Currently, noninvasive prenatal testing (NIPT) is the only procedure available for screening such disorders; ho...
A total of 47,855 pregnant women underwent NIPT at our referral center from January 2014 to December 2020. Of the 314 patients with a positive NIPT indicating sex chromosome abnormalities, 260 were sc...
Improvements in detection and analytical technologies are needed to increase the accuracy of sex chromosome abnormalities detection. Pregnant women with a positive NIPT for these abnormalities may req...
Complete chromosome 9 trisomy (T9) is a rare and fatal chromosomal disorder. We performed non-invasive prenatal testing (NIPT) in a patient with threatened abortion symptoms and found that the fetal w...
Today the challenge in paternity testing is to provide an accurate noninvasive assay that can be performed early during pregnancy. This requires the use of novel analytical methods capable of detectin...
