Evidence map›Paper›PMID 35581006›Full record

ArticleNeurology(R) neuroimmunology & neuroinflammation2022

Clinicopathologic Profiles of Sporadic Late-Onset Nemaline Myopathy: Practical Importance of Anti-α-Actinin Immunostaining.

Bing Zhao, Tingjun Dai, Dandan Zhao, Xiaotian Ma, Cuiping Zhao, Ling Li, Yuan Sun, Yongqing Zhang, Yaping Yan, Jian-Qiang Lu and 2 more

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

Article in Neurology(R) neuroimmunology & neuroinflammation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
3.0field-weighted citation impact, top 8% 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

7 citing papers in PubMed, 18 citations in OpenAlex.

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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

12 authors at 1 institution in 2 countries.

Bing ZhaoFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Tingjun DaiFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Dandan ZhaoFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Xiaotian MaFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Cuiping ZhaoFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Ling LiFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Yuan SunFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Yongqing ZhangFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Yaping YanFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China. czyan@sdu.edu.cn.
Jian-Qiang LuFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Fuchen LiuFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China.
Chuanzhu YanFrom the Department of Neurology (B.Z., C.Z., L.L., Y.S., Y.Z., C.Y.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology (T.D., D.Z., F.L., C.Y.), Qilu Hospital, Shandong University; Department of Medicine Experimental Center (X.M.), Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University; Key Laboratory of the Ministry of Education for Medicinal Resources and Natural Pharmaceutical Chemistry (Y.Y.), College of Life Sciences, Shanxi Normal University, Xi'an, China; Division of Neuropathology (J.-Q.L.), Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada; Mitochondrial Medicine Laboratory (C.Y.), Qilu Hospital (Qingdao); and Brain Science Research Institute (C.Y.), Shandong University, Jinan, China. czyan@sdu.edu.cn.ORCID 0000-0001-8141-6662
Shandong University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND AND

objectivesSporadic late-onset nemaline myopathy (SLONM) is a treatable or otherwise fatal myopathy. Diagnosis of SLONM is still challenging, and no therapeutic consensus has been achieved. Here, we reported the clinicopathologic features and long-term follow-up data of SLONM in a Chinese cohort.

methodsWe performed a retrospective evaluation of clinical, pathologic, and treatment outcomes of 17 patients with SLONM diagnosed between March 1986 and April 2021 at our neuromuscular center. Immunohistochemistry (IHC) with antibodies against 5 Z-disc-associated proteins was performed in the muscle biopsies of SLONM to identify a potential pathologic marker in aid of diagnosis. In comparison, we also performed muscle IHC in patients with selective type II fiber atrophy (n = 22), neurogenic atrophy (n = 22), mitochondrial myopathy (n = 5), immune-mediated necrotizing myopathy (n = 5), and normal controls (n = 5).

resultsMost of the patients exhibited asymmetric limb muscles weakness (71%, 12/17) and neck extensor weakness (53%, 9/17). Immunofixation electrophoresis was performed in 11 patients, and 4 of them were identified with monoclonal gammopathy of undetermined significance (MGUS). EMG from 16 patients demonstrated a myopathic pattern with spontaneous activities in 69% (11/16) of them. Muscle MRI showed preferential involvement of paraspinal, gluteus minimus and medius, semimembranosus, and soleus muscles. Suspected nemaline bodies on modified Gomori trichrome were confirmed by IHC using anti-α-actinin antibody (100%, 17/17), anti-myotilin antibody (94%, 16/17), anti-desmin antibody (94%, 16/17), anti-α-B crystallin antibody (65%, 11/17), and anti-telethonin antibody (18%, 3/17) with various positive rates. Notably, anti-α-actinin IHC showed the highest percentage of strongly positive staining (77%, 13/17), being the only one without negative results. Moderate improvement following autologous stem cell transplantation (ASCT) was noted in 3/4 patients with MGUS; favorable outcomes were also achieved in 6/7 patients without MGUS, including 3 patients with complete recovery who were given a combined treatment of prednisone and another immunosuppressant. DISCUSSION: SLONM is a treatable myopathy with ASCT or traditional immunotherapy, especially when combined with steroids and immunosuppressants. Anti-α-actinin immunostaining is the most reliable pathologic marker to identify rod-bearing fibers, and it should be performed routinely in adult patients with undiagnosed nonnecrotic myopathies.

Indexed as

Hematopoietic Stem Cell TransplantationMonoclonal Gammopathy of Undetermined SignificanceMyopathies, NemalineActininAdultAtrophyHumansImmunosuppressive AgentsRetrospective StudiesTransplantation, AutologousActininImmunosuppressive Agents

Identifiers

PMID35581006
PMCPMC9128036
OpenAlexW4280532426

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