Evidence map›Paper›PMID 33146883›Full record

ArticleIndian journal of pediatrics2021

Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant.

Vykuntaraju K Gowda, Manojna Battina, Sanjay K Shivappa, Naveen Benakappa

Abstract readCase Reports
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In one paragraph

Article in Indian journal of pediatrics, 2021. 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
0.2field-weighted citation impact, top 44% 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, 4 citations in OpenAlex.

  1. Review
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 1 institution in 1 country.

Vykuntaraju K GowdaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, 560029, India. drknvraju08@gmail.com.ORCID http://orcid.org/0000-0001-7244-0492
Manojna BattinaDepartment of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, 560029, India.
Sanjay K ShivappaDepartment of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Naveen BenakappaDepartment of Pediatric Medicine, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Indira Gandhi Institute of Child Health · IN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hereditary folate malabsorption (HFM) is a rare disorder of proton-coupled folate transporter deficiency. It is characterized by macrocytic anemia, recurrent infections, and epilepsy. A five-year-old girl presented with recurrent pneumonia, diarrhea, and mouth ulcers. On examination, pallor, microcephaly with spastic quadriparesis was noted. On investigations, leukopenia and thrombocytopenia with megaloblastic bone marrow picture and low folate levels was found. HFM was diagnosed at two years of age and the child was treated with folinic acid. Her diagnosis was confirmed by whole-exome sequencing which revealed a novel pathogenic homozygous frameshift insertion variation (c.620dupG) in the exon 2 of the SLC46A1 gene which was further confirmed by Sanger sequencing. The child improved significantly except for a partial improvement in neurological symptoms.

Indexed as

Drug Resistant EpilepsyFolic Acid DeficiencyPancytopeniaChildChild, PreschoolFemaleFolic AcidHumansMalabsorption SyndromesProton-Coupled Folate TransporterReinfectionFolic AcidProton-Coupled Folate TransporterSLC46A1 protein, humanFolinic acidHereditary folate malabsorptionIntracranial calcificationMacrocytic anemiaSLC46A1 gene

Identifiers

PMID33146883
OpenAlexW3095942332

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.