Dataset Information

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

ABSTRACT: As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalizedclinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohortof 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patientswhose main complaint was the presence of progressive ataxia, to whom we applied a systematic moleculardiagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if weonly considered those patients where a molecular test could be performed, the success rate rises to 45%. Weobtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxicpatients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogeneticclinic could be successfully diagnosed.

SUBMITTER: Rodriguez-Quiroga SA

PROVIDER: S-EPMC6863640 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Rodríguez-Quiroga Sergio Alejandro SA Cordoba Marta M González-Morón Dolores D Medina Nancy N Vega Patricia P Dusefante Cecilia Vazquez CV Arakaki Tomoko T Garretto Nélida Susana NS Kauffman Marcelo Andres MA

Genetics research 20150101

As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic eval ...[more]

PMID: 25989649

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Project description:Objective"Diagnostic yield," also referred to as the detection rate, is a parameter positioned between diagnostic accuracy and diagnosis-related patient outcomes in research studies that assess diagnostic tests. Unfamiliarity with the term may lead to incorrect usage and delivery of information. Herein, we evaluate the level of proper use of the term "diagnostic yield" and its related parameters in articles published in Radiology and Korean Journal of Radiology (KJR).Materials and methodsPotentially relevant articles published since 2012 in these journals were identified using MEDLINE and PubMed Central databases. The initial search yielded 239 articles. We evaluated whether the correct definition and study setting of "diagnostic yield" or "detection rate" were used and whether the articles also reported companion parameters for false-positive results. We calculated the proportion of articles that correctly used these parameters and evaluated whether the proportion increased with time (2012-2016 vs. 2017-2022).ResultsAmong 39 eligible articles (19 from Radiology and 20 from KJR), 17 (43.6%; 11 from Radiology and 6 from KJR) correctly defined "diagnostic yield" or "detection rate." The remaining 22 articles used "diagnostic yield" or "detection rate" with incorrect meanings such as "diagnostic performance" or "sensitivity." The proportion of correctly used diagnostic terms was higher in the studies published in Radiology than in those published in KJR (57.9% vs. 30.0%). The proportion improved with time in Radiology (33.3% vs. 80.0%), whereas no improvement was observed in KJR over time (33.3% vs. 27.3%). The proportion of studies reporting companion parameters was similar between journals (72.7% vs. 66.7%), and no considerable improvement was observed over time.ConclusionOverall, a minority of articles accurately used "diagnostic yield" or "detection rate." Incorrect usage of the terms was more frequent without improvement over time in KJR than in Radiology. Therefore, improvements are required in the use and reporting of these parameters.

Dataset Information

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

Publications

Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

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