Review for 10.1186/s12876-016-0507-3 (2016)

Reviewer ’s report  
 
Title: Fibrinogen storage disease in a Chinese boy with de novo fibrinogen Aguadilla mutation: 
Incomplete response to carbam azepine and ursodeoxycholic acid  
 
 
Version: 0 Date: 14 Jun 2016  
 
 
Reviewer: Sally  Chappell  
 
Reviewer's report:  
 
This case report describes the mutation associated with fibrinogen storage disease in a 2 -year old 
boy, with details of his partial response to medication previously reported to be effective in FSD. 
The manuscri pt is generally well written and contains all necessary clinical and molecular detail. 
It reports the first Han Chinese patient with FSD and provides valuable information regarding 
treatment response.  
Minor revisions are suggested as follows:  
P7 (line 28 ) - The addition of a sentence which highlights the fact that all previous FSD 
mutations have been located in exons 8 or 9 would justify why only these areas were screened.  
 
P9 (line 58) - "FGG" should be italicised as this refers to the gene.  
 
P11 (line 1 ) - "transminitis" should be "transaminitis"  
 
P11 (line 23) - "290 -odd" may be better phrased as "approximately 290 days".  
 
P11 (line 39) - "others likely will be" may be better phrased as "others will likely be".  
 
P13 onwards - check consistency of format ting in the references, particularly with respect to the 
author names. Most are presented with the surname followed by the initial as required by the 
journal, but others (e.g. 5, 10, 11 and 13) have the names presented with either the forename or 
initial f ollowed by the surname.  
 
P16 - The references in Table 1 need checking as they don't look as though they refer to the 
correct papers. For example: Should the Brescia mutation be reference 2 rather than 5? Anger 
should be reference 4 rather than 7? AI DuPon t and Beograd should be 5 rather than 8? Pisa 
should be 9 rather than 13?  
 
Figure 1 - It would be helpful to have arrows indicating the areas mentioned in the legend (i.e. 
the inclusion bodies in Part A and the fibrinogen immunostaining in Part B).  
 
Supplementary material - if supplementary material is to be included in the final version, then the 
relevant figures/information should be referred to in the text (e.g. the sequence results could be 
mentioned on p8 (line 50).  
 
Are the methods appropriate and well described?  
If not, please specify what is required in your comments to the authors.  
 
Yes 
 
Does the work include the necessary controls?  
If not, please specify which controls are required in your comments to the authors.  
 
Yes 
 
Are the conclusions drawn adequately supported by the data shown?  
If not, please explain in your comments to the authors.  
 
Yes 
 
Are you able to assess any statistics in th e manuscript or would you recommend an  
additional statistical review?  
If an additional statistical review is recommended, please specify what aspects require further  
assessment in your comments to the editors.  
 
Not relevant to this manuscript  
 
Quality of wri tten English  
Please indicate the quality of language in the manuscript:  
 
Acceptable  
 
Declaration of competing interests  
Please compl ete a declaration of competing interests, considering the following questions:  
 
1. Have you in the past five years received reimbursements, fees, funding, or salary from 
an organisation that may in any way gain or lose financially from the publication of th is 
manuscript, either now or in the future?  
 
2. Do you hold any stocks or shares in an organisation that may in any way gain or lose  
financially from the publication of this manuscript, either now or in the future?  
 
3. Do you hold or are you currently applyi ng for any patents relating to the content of the  
manuscript?  
 
4. Have you received reimbursements, fees, funding, or salary from an organization that 
holds  or has applied for patents relating to the content of the manuscript?  
 
5. Do you have any other financial competing interests?  
 
6. Do you have any non -financial competing interests in relation to this paper?  
 
If you can answer no to all of the above, write 'I declare that I have no competing interests' 
below.  If your reply is y es to any, please give details below.  
 
I declare that I have no competing interests  
 
I agree to the open peer review policy of the journal. I understand that my name will be included  
on my report to the authors and, if the manuscript is accepted for publicat ion, my named report  
including any attachments I upload will be posted on the website along with the authors'  
responses. I agree for my report to be made available under an Open Access Creative Commons  
CC-BY license ( http://creativecommons.org/licenses/by/ 4.0/). I understand that any comments  
which I do not wish to be included in my named report can be included as confidential comments  
to the editors, which will not be published.  
 
I agree to the open peer review policy of the journal