Evidence map›Paper›PMID 39354993›Full record

ArticleFrontiers in public health2024

Accelerating rare disease detection: an experience of multidisciplinary team model in undiagnosed diseases program in a children's hospital.

Yu Shi, Shijian Miao, Yuan Yuan, Yang Fu, Chengjun Sun, Hongsheng Wang, MengMeng Ge, Dongyun Li, Guomei Shen, Xuan Gao and 1 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in public health, 2024. 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
–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

2 citing papers in PubMed.

  1. Article
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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

11 authors.

Yu Shi *Outpatient and Emergency Management Office, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Shijian Miao *Department of Gastroenterology, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Yuan YuanDepartment of Respiratory, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Yang FuDepartment of Hematology, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Chengjun SunDepartment of Endocrinology and Inherited Metabolic Diseases, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Hongsheng WangDepartment of Hematology, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
MengMeng GeDepartment of Neonatology, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Dongyun LiDepartment of Child Health Care, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Guomei ShenOutpatient and Emergency Management Office, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Xuan GaoOutpatient and Emergency Management Office, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.
Xiaowen ZhaiDepartment of Hematology, National Children's Medical Center/Children's Hospital, Fudan University, Shanghai, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: A definite diagnosis goes undiscovered for a percentage of children with undiagnosed disorders, with significant medical, psychological, and social effects. Other than specialized clinical centers, exceptional molecular studies, common procedures, and devoted activities at the national and international levels, children with complex undiagnosed disorders require innovative approaches. Methods: In March 2016, Children's hospital of Fudan university represented the Children's Undiagnosed Diseases Program (UDP). The purpose of this study is to describe the project findings and underline the critical significance of multidisciplinary teamwork in China's undiagnosed rare illnesses program. We investigated the 758 cases in our UDP system retrospectively. Demographic information, laboratory test results, and genetic information were gathered. Results: Between January 2017 and December 2021, 758 cases were examined. Males made up 436 (57.5%) of the total. Over half of the patients were children under the age of five. The average patient course time preceding admission to UDP was 6.0 months (95% CI 10.512.6). These patients visited an average of 1.8 clinics during their diagnostic journey. Except for 69 individuals (90.9%), all had more than one presenting symptom in various organs: 460 (60.7%) had neurology difficulties, 151 (19.9%) had endocrine problems, and 141 (18.6%) had immunology problems. UDP has a diagnosis rate of 61.3%. Genetic testing was performed on 469 of the 758 patients, for a genetic diagnosis rate of 15.8%. The UDP method has a sensitivity of 94.5%, a specificity of 86.4%, a positive predictive value of 92.8%, and an negative predictive value of 89.5%. Conclusion: Our UDP targets an unmet need, namely the diagnosis of patients with complicated, multisystem illnesses. Using a multidisciplinary team model approach, this UDP pilot study achieved a reasonable diagnosis success rate, increasing the possibility of more diagnoses and new scientific discoveries of difficult and rare diseases.

Indexed as

Hospitals, PediatricPatient Care TeamRare DiseasesAdolescentChildChild, PreschoolChinaFemaleHumansInfantInfant, NewbornMaleRetrospective StudiesUndiagnosed DiseaseschildrenChinamultidisciplinaryundiagnosed disease programundiagnosed diseases

Identifiers

PMID39354993
PMCPMC11442281

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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.