Įgimtos antinksčių hiperplazijos, dėl 21-hidroksilazės trūkumo, genotipo ir fenotipo sąsaja
Notice bibliographique
Résumé
Author: Aida Dawit Ghirmatsion Title: Correlation of genotype-phenotype of congenital adrenal hyperplasia due to 21-hydroxylase deficiency Aim: To perform a systematic review of the database related to the correlation between genotype of 21-hydroxylase deficiency (due to CYP21A2 gene mutation) and form of CAH (Congenital Adrenal Hyperplasia). Objectives: 1. To select all available publications in databases, related to 21-OHD genotype and phenotype correlation. 2. To assess the prevalence of the most frequent mutations of CYP21A2 gene in populations. 3. To apply model of PRISMA systematic review for performing the study. Methodology: The publications for the systematic review were found using NCBI PubMed database. The 195 references were found and assessed for the review. Ten references were selected for the detailed analysis after inclusion and exclusion criteria. The risk of bias of the studies was assessed using Newcastle-Ottawa Scale for observational studies. Results: In total, 10 articles were selected for analysis of genotype-phenotype correlation of the rare disease congenital adrenal hyperplasia and the prevalence of CYP21A2 gene pathogenic mutations from different cohorts. The review assessed the correlation of the groups of genotypes (Null, A, B, C) with the three forms (salt-wasting, simple virilizing, non-classical) of CAH due to 21-OHD. It presented a better genotype-phenotype correlation in the severe salt wasting form than the milder forms. Almost all the publications presented the highest correlation of genotype-phenotype in genotype Null (determine <1 % residual 21-OH activity) followed by genotype A (determine ~1% 21-OH activity). Inconsistent results were also present which suggests that there is discordance of genotype-phenotype correlation. The frequency of I2G and deletion/conversions mutation of CYP21A2 gene were also the highest in most publications. Discussion: Correlation of genotype-phenotype were analyzed in the results which presented good correlation and discordance in some cases. It is also described the severe form SW had the best correlation in most cohorts’ studies. In most cases the explanation for inconsistent results of discordance of genotype –phenotype correlation was unknown. I2G and deletions/conversions were found to be most frequent in the cohort studies taken for the review while I172N for SV phenotype and V281L for non-classic phenotype. Conclusion: Analysis of genotype-phenotype correlation shows a good correlation in severe CAH forms and discordance in mild CAH forms. In most cases the explanation for inconsistent results of discordance of genotype-phenotype correlation was unknown. Although the most frequent mutations were assessed in different countries, still, there is a deficiency of data about genotype-phenotype correlation in most populations. The knowledge of a correlation between genotype and phenotype could help to prescribe the dose of the most appropriate glucocorticoids (GC) for treatment, predict and prevent complications related to CAH and long-term treatment of GC.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction distillée sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Apprise à partir de 10 348 étiquettes directes de Codex et de 10 348 étiquettes directes de Gemma. Le mode candidate est l'union des têtes enseignantes seuillées; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont ni des étiquettes humaines ni des étiquettes directes de modèles de pointe.
Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,001 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,001 | 0,000 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule tête enseignante, pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».