Outcomes in CAH: Need for Evidence-Based Estimates
Notice bibliographique
Résumé
The statement that among children born in United States jurisdictions that screened for CAH in 2006 ‘Over 56% of presumed cases of CAH went undetected’ is incorrect. The sensitivity of newborn screening for classical CAH is extremely high, essentially 100% for salt-wasting CAH [2] . The ‘National Newborn Screening and Genetics Resource Center records’ cited by Ms. Leight come from the US National Newborn Screening Information System (NNSIS) database to which states voluntarily report data and which is regularly updated [3] . The NNSIS as of April 6, 2007, included a total of 150 children born in 2006 with confirmed classical CAH. Because a number of states had either not yet reported data or reported incomplete data for CAH diagnoses in 2006, the ultimate number will be substantially larger. NNSIS data for 2005 included 180 children confirmed with classical CAH born in 30 states with a total of 2.8 million births that were screened for CAH, or 1 in 15,700 births. We share Ms. Leight’s concern about the plight of children with CAH born in low-income countries, among whom the rate of mortality is likely to be quite high. On the other hand, the most cost-effective approach to reducing CAH mortality in such countries needs to be carefully considered along with the availability of treatment following identification of CAH. This requires data on outcomes with and without screening. Migeon and Donohoue We appreciate the many efforts of the CARES Foundation, Inc. on behalf of children with CAH and recognize that the death of even one child with this preventable outcome is a tragedy. Preventive programs and policies can be most effectively developed on an evidence-based foundation, and the available data support our conclusion that infant mortality in classical CAH is 4% in North America and Europe. Additional supporting data come from a recent study of stored blood spot specimens for unexplained infant deaths in Austria and the Czech Republic that found about one fifth as many cases of CAH as had been expected on the basis of expert opinion [1] . Out of more than 2 million births during a 13-year period, there were 3 unexplained deaths due to CAH, or 2% of the expected number of children with CAH. We agree with Ms. Leight that there should also be a systematic study of a sample of all infant deaths to determine the frequency of death due to CAH. As stated in our article: ‘One way to ascertain such deaths in cohorts not screened for CAH at birth is to retrieve stored dried blood spot filter paper cards for children who died in infancy or early childhood and test for the presence of CAH, including analysis of CYP21 mutations specific for SW-CAH.’ We would be pleased to collaborate with CARES Foundation, Inc. to identify other research needs as well. Published online: June 4, 2007 HORMONE RESEARCH
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 machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,182 | 0,572 |
| Méta-épidémiologie (sens strict) | 0,003 | 0,003 |
| Méta-épidémiologie (sens large) | 0,012 | 0,007 |
| Bibliométrie | 0,023 | 0,016 |
| Études des sciences et des technologies | 0,002 | 0,005 |
| Communication savante | 0,016 | 0,025 |
| Science ouverte | 0,011 | 0,009 |
| Intégrité de la recherche | 0,013 | 0,020 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,012 | 0,003 |
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 source (Gemma direct ou Codex distillé), 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 ».