Evidence map›Paper›PMID 38994316›Full record

ArticleWorld journal of clinical cases2024

Novel compound heterozygous mutations in the

Ling-Ding Xie, Xiao-Mu Kong, Jing-Xia Shen, Tai-Ling Wang, Jing Ma, Yun-Fen Zhang, Xiao-Ping Chen

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of clinical cases, 2024. 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
–field-weighted citation impact
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.

  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

7 authors.

Ling-Ding XieDepartment of Endocrinology, China-Japan Friendship Hospital, Beijing 100029, China.
Xiao-Mu KongDepartment of Endocrinology, China-Japan Friendship Hospital, Beijing 100029, China.
Jing-Xia ShenDepartment of Tumor Radiotherapy and Chemotherapy, Qian'an People's Hospital, Qian'an 064400, Hebei Province, China.
Tai-Ling WangDepartment of Pathology, China-Japan Friendship Hospital, Beijing 100029, China.
Jing MaDepartment of Endocrinology, Aksu First People's Hospital, Aksu Region 843000, Xinjiang Uygur Autonomous Region, China.
Yun-Fen ZhangDepartment of Metabolic Diseases, Qian'an Traditional Chinese Medical Hospital, Qian'an 064400, Hebei Province, China.
Xiao-Ping ChenDepartment of Endocrinology, China-Japan Friendship Hospital, Beijing 100029, China. chenxiaoping@zryhyy.com.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundJuvenile hemochromatosis (JH) is an early-onset, rare autosomal recessive disorder of iron overload observed worldwide that leads to damage in multiple organs. Pathogenic mutations in the CASE SUMMARY: A 34-year-old male Chinese patient presented with liver fibrosis, diabetes, hypogonadotropic hypogonadism, hypophysis hypothyroidism, and skin hyperpigmentation. Biochemical test revealed a markedly elevated serum ferritin level of 4329 μg/L and a transferrin saturation rate of 95.4%. Targeted exome sequencing and Sanger sequencing revealed that the proband had a novel mutation c.863G>A (p.R288Q) in the

conclusionThis study highlights the importance of screening for hemochromatosis in patients with diabetes and hypogonadotropic hypogonadism. It also suggests that long-term active phlebotomy could efficiently improve the prognosis in severe JH.

Indexed as

Case reportDiabetesIron overloadJuvenile hemochromatosisLiver cirrhosisPhlebotomy

Identifiers

PMID38994316
PMCPMC11235419

What OpenQuestion holds

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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.