Matrin 3 in neuromuscular disease: physiology and pathophysiology

O objetivo deste estudo consiste em identificar e caracterizar os principais testes utilizados na avaliação da função pulmonar de pacientes com doenças neuromusculares citados em artigos científicos publicados nos últimos 40 anos. Utilizou-se de revisão bibliográfica incluindo estudos publicados nos anos de 1965 a 2005 encontrados nas bases de dados MEDLINE, PUBMED, EMBASE, LILACS e SCIELO que utilizaram descritores na língua portuguesa (doenças neuromusculares, espirometria, capacidade vital, valores de referência) e na inglesa (neuromuscular disease, spirometry, vital capacity reference values). Foram encontrados 9 testes subdivididos em medidas, valores de referência e utilidade. Os testes citados foram: testes de função pulmonar que incluem medidas espirométricas, utilizados para avaliar volumes pulmonares, presença de obstrução de vias aéreas, sinais de fraqueza e fadiga dos músculos respiratórios; testes que avaliam a força dos músculos respiratórios, utilizados para avaliar a força dos músculos respiratórios e a atividade diafragmática isolada; teste que avalia a atividade elétrica de nervos, junção neuromuscular e músculos relacionados a respiração; testes que avaliam o limiar de fadiga dos músculos respiratórios; teste que avalia o grau de relaxamento dos músculos respiratórios, utilizado para analisar a recuperação muscular; testes que avaliam a eficácia da tosse; análise da concentração de gases arteriais, capnografia e oximetria de pulso, utilizadas para avaliar principalmente retenção de CO2 e presença de hipoxemia durante o sono, respectivamente.

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Faculty Opinions recommendation of Required enhancer-matrin-3 network interactions for a homeodomain transcription program.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718530131.793500820 ◽

2014 ◽

Author(s):

Andrew D Sharrocks

Keyword(s):

Matrin 3 ◽

Transcription Program

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Faculty Opinions recommendation of Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junction.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.718882818.793519640 ◽

2016 ◽

Author(s):

Angela Vincent

Keyword(s):

Gene Therapy ◽

Neuromuscular Junction ◽

Mouse Models ◽

Neuromuscular Disease

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The Safety of Ketamine in Pediatric Neuromuscular Disease. A Study of 101 Patients

Survey of Anesthesiology ◽

10.1097/00132586-198310000-00038 ◽

1983 ◽

Vol 27 (5) ◽

pp. 290

Author(s):

D. E. LEES ◽

Y. D. KIM ◽

T. E. MACNAMARA ◽

Robert M. Smith

Keyword(s):

Neuromuscular Disease

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How Providers in Child Neurology Transitioned to Telehealth During COVID-19 Pandemic

Child Neurology Open ◽

10.1177/2329048x211022976 ◽

2021 ◽

Vol 8 ◽

pp. 2329048X2110229

Author(s):

Jennifer M. Bain ◽

Codi-Ann Dyer ◽

Megan Galvin ◽

Sylvie Goldman ◽

Jay Selman ◽

...

Keyword(s):

Quality Improvement ◽

Neuromuscular Disease ◽

Online Survey ◽

Autism Spectrum ◽

Child Neurology ◽

Economic Issues ◽

Improvement Measures ◽

Spectrum Disorders ◽

Care Practices ◽

Specific Disorders

To understand child neurology care practices in telehealth (TH), we conducted an online survey interested in identifying which patients should be triaged for in-person evaluations in lieu of telehealth management. We also sought to identify provider and patient/parent limitations of the TH experience. One hundred fourteen clinicians completed the online survey. The majority of child neurologists transitioned within 3 weeks of the pandemic onset and found it inappropriate to evaluate a child under 1 year of age via TH. We identified specific disorders considered inappropriate for initial evaluation via TH, including neuromuscular disease, neuropathy, weakness, autoimmune disease and autism spectrum disorders. Patient and parent technical and economic issues are significant limitations of TH. We suggest quality improvement measures to provide additional training, focusing on particular disorders and increased access for those patients currently excluded from or limited in using or accessing TH.

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Combined Muscle Biopsy and Comprehensive Electrophysiology in General Anesthesia is Valuable in Diagnosis of Neuromuscular Disease in Children

Neuropediatrics ◽

10.1055/s-0041-1726120 ◽

2021 ◽

Author(s):

Christina E. Hoei-Hansen ◽

Marie L. B. Tygesen ◽

Morten Dunø ◽

John Vissing ◽

Martin Ballegaard ◽

...

Keyword(s):

Genetic Testing ◽

Muscle Biopsy ◽

Neuromuscular Disease ◽

Genetic Diagnosis ◽

Congenital Myasthenic Syndrome ◽

Diagnostic Quality ◽

Pathogenic Variants ◽

Combined Use ◽

Myasthenic Syndrome ◽

Size Variability

Abstract Aim The diagnostic workup in patients with delayed motor milestones suspected of having either myopathy or a congenital myasthenic syndrome is complex. Our hypothesis was that performance of a muscle biopsy and neurophysiology including stimulated single-fiber electromyography during an anesthetic procedure, combined with genetic testing has a high diagnostic quality. Materials and Methods Clinical and paraclinical data were retrospectively collected from 24 patients aged from 1 month to 10 years (median: 5.2 years). Results Neurophysiology examination was performed in all patients and was abnormal in 11 of 24. No patients had findings suggestive of a myasthenic syndrome. Muscle biopsy was performed in 21 of 24 and was normal in 16. Diagnostic findings included nemaline rods, inclusion bodies, fiber size variability, and type-II fiber atrophy. Genetic testing with either a gene panel or exome sequencing was performed in 18 of 24 patients, with pathogenic variants detected in ACTA1, NEB, SELENON, GRIN2B, SCN8A, and COMP genes. Conclusion Results supporting a neuromuscular abnormality were found in 15 of 24. In six patients (25%), we confirmed a genetic diagnosis and 12 had a clinical neuromuscular diagnosis. The study suggests that combined use of neurophysiology and muscle biopsy in cases where genetic testing does not provide a diagnosis can be useful in children with delayed motor milestones and clinical evidence of a neuromuscular disease.

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