Evidence map›Paper›PMID 36237614›Full record

ArticleFrontiers in neurology2022

High-risk screening of late-onset Pompe disease: A different early portrait in China.

Kexin Jiao, Jihong Dong, Sushan Luo, Liqiang Yu, Qing Ke, Zhiqiang Wang, Xinghua Luan, Xiaojie Zhang, Junhong Guo, Yan Chen and 21 more

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

Article in Frontiers in neurology, 2022. 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
0.6field-weighted citation impact, top 34% 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Observational
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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

31 authors at 20 institutions in 1 country.

Kexin JiaoDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Jihong DongDepartment of Neurology, Zhongshan Hospital, Fudan University, Shanghai, China.
Sushan LuoDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Liqiang YuDepartment of Neurology, The First Affiliated Hospital of Soochow University, Shanghai, China.
Qing KeDepartment of Neurology, The First Affiliated Hospital, School of Medicine, Zhejiang University Hangzhou, Zhejiang, China.
Zhiqiang WangDepartment of Neurology, Institute of Neurology, First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Xinghua LuanDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Xiaojie ZhangDepartment of Neurology, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Junhong GuoDepartment of Neurology, First Hospital, Shanxi Medical University, Taiyuan, China.
Yan ChenDepartment of Neurology, Tongji Hospital, Tongji University, Shanghai, China.
Xihua LiDepartment of Neurology, Children's Hospital of Fudan University, Shanghai, China.
Song TanDepartment of Neurology, School of Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Fangyuan QianDepartment of Neurology, School of Medicine, Affiliated ZhongDa Hospital, Research Institution of Neuropsychiatry, Southeast University, Nanjing, China.
Jianming JiangDepartment of Neurology, First Affiliated Hospital to Naval Medical University, Shanghai, China.
Xuen YuAffiliated Hospital of the Institute of Neurology, Anhui University of Chinese Medicine, Hefei, China.
Dongyue YueDepartment of Neurology, Jing'an District Center Hospital of Shanghai, Fudan University, Shanghai, China.
Changxia LiuDepartment of Neurology, The Fourth Affiliated Hospital of Nantong University, Yancheng, China.
Lijun LuoDepartment of Neurology, Wuhan No.1 Hospital, Wuhan, China.
Jianping LiDepartment of Geriatrics, School of Medicine, Renji Hospital, Shanghai Jiao Tong University, Shanghai, China.
Yanzhou QuDepartment of Neurology, The Sixth Affiliated Hospital of Wenzhou Medical University, Lishui, China.
Lan ChenDepartment of Neurology, Nantong first people's Hospital, Nantong, Jiangsu, China.
Jianglong TuDepartment of Neurology, The Second Affiliated Hospital of Nanchang University, Nanchang, China.
Chong SunDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Chong YanDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Jie SongDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Jianying XiDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Jie LinDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Jiahong LuDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Chongbo ZhaoDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Wenhua ZhuDepartment of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Qi FangDepartment of Neurology, The First Affiliated Hospital of Soochow University, Shanghai, China.
Fudan University · CNHuashan Hospital · CNAnhui University of Traditional Chinese Medicine · CNChildren's Hospital of Fudan University · CNFirst Affiliated Hospital of Soochow University · CNFirst Hospital of Shanxi Medical University · CNFujian Medical University · CNJinshan Hospital of Fudan University · CNNantong University · CNRenji Hospital · CNSecond Affiliated Hospital of Nanchang University · CNSecond People's Hospital of NanTong · CNShanghai Jiao Tong University · CNShanghai Sixth People's Hospital · CNSoochow University · CNTongji University · CNUniversity of Electronic Science and Technology of China · CNWenzhou Medical University · CNWuhan No.1 Hospital · CNZhejiang University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: The lack of knowledge regarding the differences between Chinese and other ethnicities in the early manifestation of late-onset Pompe disease (LOPD) prohibits the development of an effective screening strategy. We conducted a multicenter screening study to determine LOPD prevalence in high-risk populations and define the early manifestation of LOPD in China. Methods: Between August 2020 and April 2021, the participants were prospectively identified through medical examination at 20 centers from inpatient departments and outpatient neuromuscular clinics in China. The inclusion criteria were as follows: (1) age ≥ 1 year and (2) either one of the following conditions: (a) persistent hyperCKemia, (b) muscle weakness of the axial and/or limb-girdle muscles, or (c) unexplained restrictive respiratory insufficiency (RI). Enzymatic activity of acid α-glucosidase (GAA) was measured in a dried blood spot (DBS) using a tandem mass spectrometry (MS/MS) assay. Next-generation sequencing (NGS) was used to evaluate all samples with decreased GAA activity, searching for Results: Among the 492 cases, 26 positive samples (5.3%) were detected in the DBS test. Molecular studies confirmed a diagnosis of LOPD in eight cases (1.6%). Using MS/MS assay, GAA activities in individuals with pseudodeficiency could be distinguished from those in patients with LOPD. The median interval from the onset of symptoms to diagnosis was 5 years. All patients also showed RI, with a mean forced vital capacity (FVC) of 48%, in addition to axial/proximal muscle weakness. The creatine kinase (CK) level ranged from normal to no more than 5-fold the upper normal limit (UNL). LOPD with isolated hyperCKemia was not identified. Conclusion: Less frequent hyperCKemia and predominant RI depict a different early portrait of adult Chinese patients with LOPD. A modified high-risk screening strategy should be proposed for the early diagnosis of Chinese patients with LOPD.

Indexed as

dried blood spothigh-risk screeninglate-onset Pompe diseaserespiratory failuretandem mass spectrometry

Identifiers

PMID36237614
PMCPMC9553204
OpenAlexW4297312237

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