Evidence map›Paper›PMID 35359903›Full record

ArticleFrontiers in pediatrics2022

Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of

Shu Liu, Zhiqing Wang, Xianhua Zheng, Ye Zhang, Sisi Wei, Haimei OuYang, Jinqun Liang, Nuan Chen, Weihong Zeng, Jianhui Jiang

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

Article in Frontiers in pediatrics, 2022. 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 42% 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. A homozygous variant in theFrontiers in genetics · 2022
    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

10 authors at 2 institutions in 1 country.

Shu LiuChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Zhiqing WangGuangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Xianhua ZhengDepartment of Clinical Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.
Ye ZhangChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Sisi WeiChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Haimei OuYangChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Jinqun LiangChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Nuan ChenChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Weihong ZengChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Jianhui JiangChildren Inherited Metabolism and Endocrine Department, Guangdong Women and Children Hospital, Guangzhou, China.
Guangdong Province Women and Children Hospital · CNSouthern Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Severe hyperlipidemia is characterized by markedly elevated blood triglyceride levels and severe early-onset cardiovascular diseases, pancreatitis, pancreatic necrosis or persistent multiple organ failure if left untreated. It is a rare autosomal recessive metabolic disorder originated from the variants of lipoprotein lipase gene, and previous studies have demonstrated that most cases with severe hyperlipidemia are closely related to the variants of some key genes for lipolysis, such as Methods: The 29-day-old infant was diagnosed with severe hyperlipidemia, registering a plasma triglyceride level as high as 25.46 mmol/L. Whole exome sequencing was conducted to explore the possible pathogenic gene variants for this patient. Results: The infant was put on a low-fat diet combined with pharmacological therapy, which was successful in restraining the level of serum triglyceride and total cholesterol to a low to medium range during the follow-ups. The patient was found to be a rare novel homozygous duplication variant-c.45_48dupGCGG (Pro17Alafs Conclusions: Our study expands on the spectrum of

Indexed as

GPIHBP1 genenovel variantsevere hyperlipidemiatherapywhole exome sequencing

Identifiers

PMID35359903
PMCPMC8960264
OpenAlexW4220664171

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.