A Natural History Study of VCP Associated Vacuolar Myopathy in a Patient with the Common R155H Mutation

Review Data

Purpose and Significance of Study: This study aims to address the lack of substantial natural history data for muscle strength, and respiratory function in Inclusion Body Myopathy associated with Paget disease of the bone and Frontotemporal Dementia (IBMPFD). It is the first report of the rate of progression of muscle weakness and pulmonary function deterioration in VCP associated inclusion body myopathy. However, the limitation of this study is that it is conducted in a single patient.  

 

Fit with Scope of Journal: The manuscript is of very high interest for the journal Clinical and Experimental Investigations. 

 

o   The most common errors in the manuscript which are – 

 

·       Omission of “the” in many places, e.g. in the last sentence of the Introduction section, before “rate”, in the 2nd and 3rd sentences of Dual-energy X-ray absorptiometry in the Methods section, before “severity” and “normal” respectively, and so on. 

·       Omission of “,” in many places, e.g. in the 4th sentence of the Introduction section, after “dementia” and “patients”, in the 7th sentence of the same section, after “patient”, and so on. 

·       Usage of unnecessary “,” in a few places, e.g. in the 1st sentence of Grip Strength Dynamometry in the Methods section, in the 2nd sentence of the 1st paragraph of Case Report in the Results section, in the 5th sentence of the same paragraph and so on. 

 

o   The other errors are listed below – 

In the Abstract section –  

  Under Objective – 

·       In the 2nd sentence, “a” must be inserted before “detailed” and “in” before “IBMPFD” must be replaced by “for”. 

  Under Results – 

·       In the 1st sentence, “measurements” must be replaced by “The clinical parameters”. 

In the Introduction section – 

·       In the 3rd sentence, “a” must be replaced by “and” after “42%”.  

In the Methods section – 

  Under Grip Strength Dynamometry – 

·       In the last sentence, “an” before “effective” must be removed. 

  Under Sleep Duration/Disruptions – 

·       In the 2nd sentence, “reflect” must be replaced by “reflects”. 

  Under Dual-energy X-ray absorptiometry (DEXA) – 

·       In the 1st sentence, “age” must be replaced by “ages”. 

  Under Statistical Analysis – 

·       In the 3rd sentence, “a” before “course” must be replaced by “the”. 

In the Results section – 

  Under Case report – 

   In the 1st paragraph – 

·       In the 8th sentence, “variable sized” must be replaced by “varied sizes of” and “and must be inserted before “rimmed”. 

  In the 2nd paragraph – 

·       The meaning of the last sentence is not clear. It must be rewritten. 

  Under IBFRS scale – 

·       In the last sentence, “an” before “coefficient” must be replaced by “a”. 

  Under Medical Research Council Scale (MRC score) – 

·       In the 1st sentence, “age” must be replaced by “ages” and “years” must be removed. 

 

  Under Sleep Duration/Disruptions – 

·       In the 4th sentence, “occurred” is misspelled. 

 

In the Discusson section – 

  In the 1st paragraph – 

·       In the 3rd sentence, “;” must be inserted before “however”. 

  In the 3rd paragraph – 

·       In the 1st sentence, “declines” must be replaced by “decline”. 

  In the 4th paragraph – 

·       “Late onset” must be hyphenated. 

  In the 7th paragraph – 

·       In the 4th sentence, “an” must be inserted before “R²”. 

 

In the Limitations section – 

·       “To” must be replaced by “of”, “measurements” must be replaced by “the clinical parameters” and “just” must be inserted before “one”. 

 

In the Conclusion section – 

·       “Progression” must be replaced by “progressive”. 

 

Author Info

David Sweetman Jake Plewa Minh Nguyen Virginia Kimonis

Corresponding Author

Virginia Kimonis
Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, CA

Article Info

Article Type

Case Report

Publication history

Received: Tue 24, Dec 2019
Accepted: Tue 14, Jan 2020
Published: Fri 29, May 2020

Copyright

© 2023 Virginia Kimonis. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.CEI.2020.01.01