Evidence map›Paper›PMID 35953836›Full record

ArticleEuropean journal of medical research2022

Noonan syndrome with RAF1 gene mutations in a newborn with cerebral haemorrhage.

Junwei Lan, Tianbao Zeng, Sheng Liu, Juhong Lan, Lijun Qian

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of medical research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 45% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. RASopathies and cardiac manifestations.Frontiers in cardiovascular medicine · 2023
    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

5 authors at 2 institutions in 1 country.

Junwei LanNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang University, Lishui, 323000, China.
Tianbao ZengNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang University, Lishui, 323000, China.
Sheng LiuNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang University, Lishui, 323000, China.
Juhong LanNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang University, Lishui, 323000, China.
Lijun QianNeonatology Department, Research Group in Lishui Municipal Central Hospital of Zhejiang Province, Lishui Hospital of Zhejiang University, Lishui, 323000, China. toofe2007@163.com.
Zhejiang University · CNLishui Central Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundNoonan syndrome is an autosomal dominant genetic disorder that can occur in men and women and has a sporadic or family history. NS can lead to abnormal bleeding, but cerebral haemorrhage is rare. This is the first case of cerebral haemorrhage with a RAF1 gene mutation that originated in the neonatal period. CASE PRESENTATION: This case presents a newborn with a RAF1 gene mutation resulting in NS complicated with an abnormality of chromosome 46, X, del (Y) (q12). In the course of treatment, the baby's breathing suddenly increased. After an MRI examination of the skull, haemorrhaging was found in multiple parts of the brain.

conclusionsAfter symptomatic treatment, the baby recovered well, but the main cause of cerebral haemorrhage was not found.

Indexed as

Noonan SyndromeFemaleHumansInfantInfant, NewbornMaleMutationProto-Oncogene Proteins c-rafProto-Oncogene Proteins c-raf46, X, del (Y) (q12)NewbornNoonan syndromeRAF1, cerebral haemorrhage

Identifiers

PMID35953836
PMCPMC9367063
OpenAlexW4291004620

What OpenQuestion holds

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LicenceCC BY
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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.