Molecular diagnosis in hypospadias
Bibliographic record
Abstract
The aim of this study is to perform a systematic review of the principal genetic and molecular diagnostic methods for hypospadias and their usefulness. A Pubmed and EMBASE search was carried out using the following MESH terms: “molecular diagnosis”, “genes”, “hypospadias”, “karyotype”, “wgs”, “fish”, “chg”, “sanger”, “microarray”, “mps”, “wes”, and “gwas”. Meta-analyses, systematic reviews, Cochrane reviews, clinical trials, narrative reviews and case series were included, between 2001 and 2016, in both Spanish and English. A total of 33 items were selected for review after reviewing titles, abstracts, and cross references. Hypospadias are the birth defect of the ventral aspect of the penis, accompanied by an ectopic location of the urethral meatus. 30% of all birth malformations in the newborns are urological malformations make up 30% of all birth malformations in newborns. Within the genetic and molecular test available for diagnosis, many are of varying usefulness. These include, among others, karyotyping, FISH, and Sanger sequencing. Due to advances in technology, there are multiple molecular diagnosis methods that can widen the knowledge of the etiology of hypospadias. They also allow them to be used in the everyday practice for a complete study of patients. Realizar una revisión de la literatura sobre los principales métodos de diagnóstico de las hipospadias a nivel genético y molecular, y su utilidad en esta patología. Se realizó una búsqueda en las diferentes bases de datos como Pubmed y EMBASE con los siguientes términos MESH y sus combinaciones: «molecular diagnosis», «genes», «hipospadias», «karyotipe», «wgs», «fish», «chg», «sanger», «microarray», «mps», «wes» y «gwas». Se incluyeron artículos de metaanálisis, revisiones sistemáticas, revisiones de Cochrane, ensayos clínicos, revisiones narrativas y series de casos, entre 2001 y 2016, tanto en idioma español como en inglés. Se escogieron 33 artículos a partir de títulos, abstracts y referencias cruzadas que fueron incluidos dentro de esta revisión. Las hipospadias son el defecto en el desarrollo del aspecto ventral del pene acompañado de una ubicación ectópica del meato uretral. El 30% de las malformaciones congénitas de los recién nacidos corresponden a una malformación urológica. Dentro de las pruebas genéticas y moleculares que hay disponibles para su diagnóstico, existen múltiples de ellas de utilidad variable. Estas son el cariotipo, el FISH, la secuenciación de Sanger, entre otras. Gracias al avance de la tecnología, son múltiples los métodos de diagnóstico a nivel molecular que han permitido ampliar el conocimiento sobre las causas de hipospadias. Además, permiten en el ámbito de la práctica clínica diaria utilizarlos para realizar un estudio completo de los pacientes.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.009 | 0.029 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.004 | 0.004 |
| Bibliometrics | 0.013 | 0.009 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.003 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".