Submited on: 23 Sep 2010 09:57:36 AM GMT
Published on: 23 Sep 2010 04:32:47 PM GMT
 

  • What are the main claims of the paper and how important are they?

    The purpose of this paper is to report an unusual case of an infant affected with both neural tube defect and Down Syndrome.


  • Are these claims novel? If not, please specify papers that weaken the claims to the originality of this one.

    Yes


  • Are the claims properly placed in the context of the previous literature?

    Yes


  • Do the results support the claims? If not, what other evidence is required?

    Yes


  • If a protocol is provided, for example for a randomized controlled trial, are there any important deviations from it? If so, have the authors explained adequately why the deviations occurred?

    No


  • Is the methodology valid? Does the paper offer enough details of its methodology that its experiments or its analyses could be reproduced?

    Yes


  • Would any other experiments or additional information improve the paper? How much better would the paper be if this extra work was done, and how difficult would such work be to do, or to provide?

    No


  • Is this paper outstanding in its discipline? (For example, would you like to see this work presented in a seminar at your hospital or university? Do you feel these results need to be incorporated in your next general lecture on the subject?) If yes, what makes it outstanding? If not, why not?

    Yes- it would be a great seminar in a medical school.


  • Other Comments:

    The authors investigated the genetic risk factors of the mother.  The mother is a vegetarian.  The authors speculate that the life-long vegetarian diet of the mother might have had an impact upon the folate-independent pathway.

  • Invited by the author to review this article? :
    No
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:

    Clinical associate professor

  • How to cite:  Maloney W J.Common Gene Polymorphisms in the Mother of a Child Born with Neural Tube Defect and Down Syndrome[Review of the article 'Common Gene Polymorphisms in the Mother of a Child Born with Neural Tube Defect and Down Syndrome ' by Mukherjee M].WebmedCentral 2014;5(2):WMCRW002992
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1 Is the subject of the article within the scope of the subject category? Yes
2 Are the interpretations / conclusions sound and justified by the data? Yes
3 Is this a new and original contribution? Yes
4 Does this paper exemplify an awareness of other research on the topic? Yes
5 Are structure and length satisfactory? Yes
6 Can you suggest brief additions or amendments or an introductory statement that will increase the value of this paper for an international audience? No
7 Can you suggest any reductions in the paper, or deletions of parts? No
8 Is the quality of the diction satisfactory? Yes
9 Are the illustrations and tables necessary and acceptable? Yes
10 Are the references adequate and are they all necessary? Yes
11 Are the keywords and abstract or summary informative? Yes
  • Other Comments:

    The author presents a fine case study of the possible maternal risk factors for NTD and DS. The findings in the study are highly suggestive of the impact altered BHMT on foliate-independent pathways for NTD and DS—this is after all—a single case study and therefore calls for more research in this area to confirm the informative findings of the author.

  • Competing interests:
    No
  • Invited by the author to review this article? :
    No
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:

    None

  • How to cite:  Winters C .Sound Findings on Gene Polymorphism which Demand Further research[Review of the article 'Common Gene Polymorphisms in the Mother of a Child Born with Neural Tube Defect and Down Syndrome ' by Mukherjee M].WebmedCentral 2014;2(9):WMCRW00963
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