Evidence map›Paper›PMID 30800788›Full record

ArticleMedEdPORTAL : the journal of teaching and learning resources2017

Introduction to Biochemical Genetics from the Clinical Laboratory Prospective: A Case-Based Discussion.

Irene De Biase, Margarita Diaz-Ochu, Mary Rindler, Wendy L Hobson-Rohrer

Abstract read
In one paragraph

Article in MedEdPORTAL : the journal of teaching and learning resources, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Complexities of Clinical Genetics Consultation: An Interprofessional Clinical Skills Workshop.MedEdPORTAL : the journal of teaching and learning resources · 2020
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Irene De BiaseAssistant Professor, Department of Pathology, University of Utah School of Medicine.
Margarita Diaz-OchuAssistant Professor, Department of Pediatrics, University of Utah School of Medicine.
Mary RindlerCertified Genetic Counselor, ARUP Laboratories.
Wendy L Hobson-RohrerProfessor, Department of Pediatrics, University of Utah School of Medicine.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionInborn errors of metabolism (IEM) are individually rare, but their cumulative frequency is high. Most importantly, IEM are in the differential diagnosis for common clinical emergencies and childhood illnesses. Biochemical genetics (BCG) testing is used to diagnose IEM or follow-up with patients after treatment. A basic grasp of the strengths and limitations of biochemical testing is critical for clinicians to understand test results, identify when to seek a consultation with a specialist, or explain results to patients.

methodsThis resource is designed as an introduction to BCG testing for aminoacidopathies and urea cycle disorders, and includes eight cases. The resource was first developed for the Genetic Counseling Graduate Program at the University of Utah School of Medicine, and used in the last 2 years in small-group settings, where students were each engaged with one case (eight per session).

resultsOverall, students gave high ratings to the effectiveness of the examples used, and the interactive format encouraged students' questions. The resource has been tested with medical students and residents rotating through the Maternal Newborn Care Unit at the University Hospital. In this setting, a small-group case-based discussion was used. As expected, prior knowledge of IEM or BCG testing was low. Confidence in evaluating BCG testing after completing the learning activity improved. DISCUSSION: This resource facilitates the integration of specialized knowledge of IEM in a primary care-oriented setting. Genetics counseling students' feedback demonstrated the overall success of this activity in the specialized, genetics-oriented setting.

Indexed as

AminoacidopathiesAmino AcidsBiochemical GeneticsGeneticsInborn Errors of MetabolismNewborn Infant ScreeningNewborn ScreeningUrea Cycle Disorders

Identifiers

PMID30800788
PMCPMC6338164

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.