Evidence map›Paper›PMID 31889944›Full record

ArticleHereditas2019

Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.

Hongyan Lv, Baojun Qiao, Liyuan Fang, Lihong Yang, Qiuli Wang, Sujing Wu, Pengshun Ren, Lianxiang Li

Open access · goldAbstract readCase Reports
In one paragraph

Article in Hereditas, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
–field-weighted citation impact, top 82% 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

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3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 5 citations in OpenAlex.

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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

8 authors at 1 institution in 1 country.

Hongyan LvDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Baojun QiaoDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Liyuan FangDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Lihong YangDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Qiuli WangDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Sujing WuDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Pengshun RenDepartment of Neonatology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Lianxiang LiDepartment of Neonatal Pathology, Handan Maternal and Child Health Care Hospital, No. 6, Li Ming Street, Peace Road, Handan City, 056001 Hebei Province China.
Handan College · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo investigate the clinical and genetic characteristics of neonatal Crohn's disease (CD), improve recognition of neonatal CD, and reduce the number of patients that are missed or misdiagnosed.

methodsA 10-day-old Chinese girl with oral ulcers was admitted to the Department of Neonatology. She later developed a rash and perianal disease, but without diarrhea and stool abnormalities. The patient and her parents underwent next-generation sequencing

resultsThe results showed that the patient carries a compound heterozygous mutation in the interleukin-10 receptor A (IL-10RA) (NM_001558.3) gene. One heterozygous mutation was c.301 c > T, P. (Arg 101 Trp) in exon 3 of IL-10RA (a missense mutation), and the other was c. 537G > A, P. (Thr 179 =) in exon 4 of IL 10RA (a synonymous mutation). The patient's father also carries the c.301 c > T, P. (Arg 101 Trp) heterozygous mutation in exon 3 of IL-10RA, whereas her mother carries the c.537G > A, P. (Thr 179 =) heterozygous mutation in exon 4 of IL-10RA.

conclusionsThe results show that a compound heterozygous mutation in IL-10RA is associated with neonatal CD. Oral ulcers with a rash and perianal disease may be an early symptom of neonatal CD; therefore, such patients should undergo genetic identification as soon as possible.

Indexed as

HeterozygoteMutationAllelesCrohn DiseaseDisease SusceptibilityExonsFemaleGenetic Association StudiesHigh-Throughput Nucleotide SequencingHumansInfant, NewbornInterleukin-10 Receptor alpha SubunitOral UlcerPhenotypeInterleukin-10 Receptor alpha SubunitCrohn’s diseaseGenetic mutationInflammatory bowel diseaseInterleukin-10 receptor aNeonateOral ulcer

Identifiers

PMID31889944
PMCPMC6933644
OpenAlexW2997718272

What OpenQuestion holds

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LicenceCC BY
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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.