Evidence map›Paper›PMID 31197644›Full record

ReviewIndian journal of pediatrics2019

Genomics and Radiogenomics in Inherited Neurometabolic Disorders - A Practical Primer for Pediatricians.

Sniya Valsa Sudhakar, Karthik Muthusamy, Gautham Arunachal, Manohar Shroff

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PubMed Publisher
In one paragraph

Review in Indian journal of pediatrics, 2019. 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
0.3field-weighted citation impact, top 41% of its field
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, 2 citations in OpenAlex.

  1. 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 at 3 institutions in 2 countries.

Sniya Valsa SudhakarDepartment of Radiodiagnosis, Christian Medical College and Hospital, Vellore, Tamil Nadu, 632004, India.ORCID http://orcid.org/0000-0002-7632-9705
Karthik MuthusamyDepartment of Neurological Sciences, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
Gautham ArunachalDepartment of Human Genetics, NIMHANS (National Institute of Mental Health and Neurosciences), Bangalore, Karnataka, India.
Manohar ShroffDepartment of Diagnostic Imaging, Hospital for Sick Children / Medical Imaging, University of Toronto, Toronto, Canada. manohar.shroff@sickkids.ca.
Christian Medical College, Vellore · INNational Institute of Mental Health and Neurosciences · INUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Advances in genetics has revolutionised the way we understand, diagnose and manage neurological disorders. Notwithstanding the fact that genetic confirmation has already become standard of care in routine clinical practice, radiological and clinical phenotyping has not diminished in value; in fact it has found an enhanced role in guiding and interpreting genetic test results. Inherited neurometabolic disorders are a prominent group of disorders which are seen commonly in clinical practice and many are potentially treatable. The concept of Radiogenomics is the bridge from phenotype to genotype and the strength of association varies widely across different inherited metabolic diseases. Understanding the strengths and limitations of these correlations forms the basis of success of multidisciplinary approach to diagnose these disorders. In this article authors give a brief overview of the genetic basis of a disease, available genetic tests and the prominent role of radiology in contemplating a diagnostic suspicion and guiding further confirmatory tests.

Indexed as

PediatriciansAdultAlgorithmsATP Binding Cassette Transporter, Subfamily D, Member 1Brain Diseases, MetabolicChildChild, PreschoolDiagnostic ImagingFemaleGenetic Diseases, InbornGenetic TestingGenomicsGenotypeHumansMaleMembrane ProteinsABCD1 protein, humanATP Binding Cassette Transporter, Subfamily D, Member 1Membrane ProteinsMitochondrial ProteinsSurf-1 proteinGeneticsInborn errors of metabolismMitochondrial diseasesNeurometabolic disordersNext generation sequencingRadiogenomicsWhole exome sequencing

Identifiers

PMID31197644
OpenAlexW2953360444

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.