Articles with "diagnostic yield" as a keyword



Photo from wikipedia

The Electronic Health Record as Practice-Improvement Coach.

Sign Up to like & get
recommendations!
Published in 2018 at "JAMA internal medicine"

DOI: 10.1001/jamainternmed.2017.7536

Abstract: Invited Commentary The Electronic Health Record as Practice-Improvement Coach Unnecessary diagnostic imaging is a prevalent form of medical overuse, and leads to unnecessary invasive procedures, radiation exposure, emotional stress, and nosocomial infection. Research has focused… read more here.

Keywords: health record; diagnostic yield; electronic health; yield ... See more keywords

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.

Sign Up to like & get
recommendations!
Published in 2022 at "JAMA neurology"

DOI: 10.1001/jamaneurol.2022.3549

Abstract: Importance There are many known acquired risk factors for cerebral palsy (CP), but in some cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a wide range of diagnostic yields… read more here.

Keywords: yield; diagnostic yield; cma; meta analysis ... See more keywords

Diagnostic Yield of Exome Sequencing in Cerebral Palsy and Implications for Genetic Testing Guidelines: A Systematic Review and Meta-analysis.

Sign Up to like & get
recommendations!
Published in 2023 at "JAMA pediatrics"

DOI: 10.1001/jamapediatrics.2023.0008

Abstract: Importance Exome sequencing is a first-tier diagnostic test for individuals with neurodevelopmental disorders, including intellectual disability/developmental delay and autism spectrum disorder; however, this recommendation does not include cerebral palsy. Objective To evaluate if the diagnostic… read more here.

Keywords: meta analysis; diagnostic yield; exome sequencing; yield ... See more keywords

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Sign Up to like & get
recommendations!
Published in 2017 at "JAMA Psychiatry"

DOI: 10.1001/jamapsychiatry.2016.3798

Abstract: Importance Autosomal recessive inherited neurodevelopmental disorders are highly heterogeneous, and many, possibly most, of the disease genes are still unknown. Objectives To promote the identification of disease genes through confirmation of previously described genes and… read more here.

Keywords: exome sequencing; 152 consanguineous; diagnostic yield; consanguineous families ... See more keywords

Molecular Screening of SCN1A ‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution

Sign Up to like & get
recommendations!
Published in 2025 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.70114

Abstract: SCN1A‐related seizures first present as febrile seizures (FS). Definitive features emerge later, making early diagnosis challenging. We evaluated the diagnostic yield and clinical characteristics of pathogenic SCN1A variants in FS, and analyzed the effect of… read more here.

Keywords: scn1a related; febrile seizures; related seizures; diagnostic yield ... See more keywords

Small volume biopsy diagnostic yield at initial diagnosis versus recurrence/transformation of follicular lymphoma: A retrospective Cyto‐Heme Interinstitutional Collaborative study

Sign Up to like & get
recommendations!
Published in 2022 at "Cancer Cytopathology"

DOI: 10.1002/cncy.22676

Abstract: Few studies have evaluated diagnostic yield of small volume biopsies (SVB) for the diagnosis and management of follicular lymphoma (FL). read more here.

Keywords: diagnostic yield; diagnosis; follicular lymphoma; small volume ... See more keywords

Pericardial fluid evaluation: Diagnostic yield and cytology–histology correlation

Sign Up to like & get
recommendations!
Published in 2025 at "Cancer Cytopathology"

DOI: 10.1002/cncy.70000

Abstract: Pericardial effusion can be due to any etiology but may cause significant morbidity and mortality; however, malignant effusions are rare, and accurate and timely diagnosis is essential for appropriate further management. Data on the actual… read more here.

Keywords: fluid evaluation; evaluation diagnostic; histology; diagnostic yield ... See more keywords

Endoscopic ultrasound guided fine‐needle aspiration: What variables influence diagnostic yield?

Sign Up to like & get
recommendations!
Published in 2018 at "Diagnostic Cytopathology"

DOI: 10.1002/dc.23883

Abstract: Endoscopic ultrasound (EUS) guided fine‐needle aspiration (FNA) plays an important role in the diagnosis of various lesions. We sought to determine factors that influence the diagnostic yield of EUS–FNA, specifically, the presence of a cytopathologist,… read more here.

Keywords: guided fine; influence diagnostic; needle aspiration; fine needle ... See more keywords

Impact of length of stay on diagnostic yield in the epilepsy monitoring unit: A multi‐center retrospective 12‐year Veterans Health Administration study

Sign Up to like & get
recommendations!
Published in 2025 at "Epilepsia Open"

DOI: 10.1002/epi4.70047

Abstract: Epilepsy Monitoring Units (EMUs) in Veterans Health Administration (VHA) Epilepsy Centers of Excellence (ECoE) are critical for the diagnosis and management of seizure disorders. Whether a shorter length of stay (LOS) in the EMU due… read more here.

Keywords: length stay; health administration; epilepsy monitoring; epilepsy ... See more keywords

Genome sequencing in congenital cataracts improves diagnostic yield

Sign Up to like & get
recommendations!
Published in 2021 at "Human Mutation"

DOI: 10.1002/humu.24240

Abstract: Congenital cataracts are one of the major causes of childhood‐onset blindness around the world. Genetic diagnosis provides benefits through avoidance of unnecessary tests, surveillance of extraocular features, and genetic family information. In this study, we… read more here.

Keywords: genome sequencing; diagnostic yield; congenital cataracts; sequencing congenital ... See more keywords

Diagnostic yield of genome sequencing for fetal structural anomalies.

Sign Up to like & get
recommendations!
Published in 2022 at "Prenatal diagnosis"

DOI: 10.1002/pd.6108

Abstract: OBJECTIVE Genome sequencing (GS >30x) is beginning to be adopted as a comprehensive genome-wide test for the diagnosis of rare disease in the post-natal setting. Recent studies demonstrated the utility of exome sequencing (ES) in… read more here.

Keywords: diagnosis; genome sequencing; diagnostic yield; structural anomalies ... See more keywords