New diagnostic and therapeutic modalities in neuromuscular disorders in children

Chikkannaiah, Mahesh; Reyes, Irma

doi:10.1016/j.cppeds.2021.101033

Cited by 12 publications

(7 citation statements)

References 44 publications

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“…In many cases, the first symptoms manifest in childhood and often comprise myalgias, muscle weakness, numbness, spasms and sensory symptoms. These disorders are often progressive with increasing age and may lead to severe disability, including severe to complete paralysis, and possibly death through respiratory or cardiac dysfunction [ 18 ]. Many NMDs are monogenic disorders, making them promising candidates for treatment by gene therapy.…”

Section: Introductionmentioning

confidence: 99%

Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders

Klann

Wang

Elfert

et al. 2022

Viruses

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High pre-existing antibodies against viral vectors reduce their functionality and may lead to adverse complications. To circumvent this problem in future gene therapy approaches, we tested the seroprevalence of a large range of human adenovirus types in patients with neuromuscular disorders (NMDs) to find appropriate viral vector candidates for gene replacement therapy for NMDs. Binding and neutralizing antibodies against 39 human adenovirus types were tested in the sera of 133 patients with NMDs and 76 healthy controls aged 17–92 years. The influence of age, sex, and NMDs on antibody levels was analyzed. The seroprevalence of different adenoviruses in the cohort varied widely. The highest levels of binding antibodies were detected against HAdV-D27, -C1, -D24, -D70, -B14, -C6, -D13, -B34, and -E4, whereas the lowest reactivity was detected against HAdV-F41, -A31, -B11, -D75, -D8, -D65, -D26, -D80, and ‑D17. The highest neutralizing reactivity was observed against HAdV-B3, -C2, -E4, -C1, -G52, -C5, and -F41, whereas the lowest neutralizing reactivity was observed against HAdV-D74, -B34, -D73, -B37, -D48, -D13, -D75, -D8, -B35, and -B16. We detected no influence of sex and only minor differences between different age groups. Importantly, there were no significant differences between healthy controls and patients with NMDs. Our data show that patients with NMDs have very similar levels of binding and neutralizing antibodies against HAdV compared to healthy individuals, and we identified HAdV-A31, -B16, -B34, -B35, -D8, -D37, -D48, -D73, -D74, -D75, and -D80 as promising candidates for future vector development due to their low binding and neutralizing antibody prevalence.

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Section: Introductionmentioning

confidence: 99%

Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders

Klann

Wang

Elfert

et al. 2022

Viruses

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“…The approach to a patient with a suspected neuromuscular disorder builds from a thorough history, a focused neuromuscular history and physical examination, including an assessment for syndromic features 1. Laboratory investigations include serum enzymes, electromyography and nerve conduction studies and genetic testing.…”

Section: Discussionmentioning

confidence: 99%

Acute myotonic reaction during succinylcholine anaesthesia

Mohammed

Gafoor²,

Panday³

2022

Pract Neurol

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A 21-year-old woman developed an acute myotonic reaction while undergoing anaesthesia using succinylcholine. Examination later showed she had shoulder, neck and calf hypertrophy, bilateral symmetrical ptosis and eyelid, handgrip and percussion myotonia. Peripheral neurophysiology studies identified significant, continuous myotonic discharges in both upper and lower limbs. Genetic analysis identified a c.3917G>A (p.Gly1306Glu) mutation in the SCN4A gene, confirming a diagnosis of sodium channel myotonia. Succinylcholine and other depolarising agents can precipitate life-threatening acute myotonic reactions when given to patients with myotonia. Patients with neuromuscular disorders are at an increased risk of perioperative anaesthetic complications. We report a woman who developed an acute myotonic reaction whilst undergoing anaesthesia, in the context of an unrecognised myotonic disorder. We then discuss an approach to the diagnosis of myotonic disorders.

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“…In the past 25 years, there has been an explosion in mining the genetic basis of diseases of nervous system diseases 51 . In current study, we dig out many RNA-related therapeutic targets that may contribute to possible future therapeutic strategies.…”

Section: Vascular Related Eldsmentioning

confidence: 99%

Transcriptome analysis of Long non-coding RNAs altered in sciatic nerves of aging SD rats

Kuang

Zhang

et al. 2023

Preprint

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Objectives To investigate the long non-coding RNAs (lncRNAs) and messenger RNAs (mRNAs) changes in the sciatic nerve (SN) in Sprague Dawley (SD) rats during aging. Methods Eighteen healthy SD rats were selected at the age of 1 month (1M) and 24 months (24M) and SNs were collected. High-throughput transcriptome sequencing and bioinformatics analysis were performed. Protein-protein interaction (PPI) networks and competing endogenous RNA (ceRNA) networks were established according to differentially expressed genes (DEGs). Result As length of lncRNAs increased, its proportion to the total number of lncRNAs decreased. A total of 4079 DElncRNAs were identified in Con vs 24M. GO analysis were primarily clustered in nerve and lipid metabolism, extracellular matrix, and vascularization related fields. There were 17 nodes in the PPI network of the target genes of up-regulating genes including Itgb2, Lox, Col11a1, Wnt5a, Kras, etc. Using quantitative RT-PCR, microarray sequencing accuracy was validated. And there were 169 nodes constructing the PPI network of down-regulated target genes, mainly including Col1a1, Hmgcs1, Hmgcr. CeRNA interaction networks were constructed. Conclusion Lipid metabolism, angiogenesis and ECM fields might play an important role in senescence process in SNs. Col3a1, Serpinh1, Hmgcr, Fdps could be candidates for nerve aging research.

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New diagnostic and therapeutic modalities in neuromuscular disorders in children

Cited by 12 publications

References 44 publications

Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders

Seroprevalence of Binding and Neutralizing Antibodies against 39 Human Adenovirus Types in Patients with Neuromuscular Disorders

Acute myotonic reaction during succinylcholine anaesthesia

Transcriptome analysis of Long non-coding RNAs altered in sciatic nerves of aging SD rats

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