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Talk:WikiJournal Preprints/Microlissencephaly: a narrative review

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Latest comment: 6 years ago by Netha Hussain in topic Editorial board member's comments
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Article information

Author: Anon until publication

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This article has been withdrawn by the submitting author for publication by the WikiJournal of Medicine.

It is archived here as a record. Discussion can be viewed below.

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Latest comment: 6 years ago1 comment1 person in discussion

Editorial board member's comments

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Latest comment: 6 years ago3 comments2 people in discussion


Comments by Netha Hussain M.B.B.S ,


Thank you for submitting a review article on microlissencephaly. The article is well-structured and adequately referenced. Here are some comments from my end:
1. The title of the article is somewhat confusing. Without conducting a systematic literature review, I think it is not completely appropriate to call the article as a 'comprehensive review'. Perhaps it is more accurate to drop the 'comprehensive review' part in the title.
2. Please cite the figures within the main text. Figure 1 may be cited under Clinical Picture and figure 2 under Diagnosis.
3. "microcephaly with simplified gyral pattern", DMRTA2, WDR81, tubulinopathy and several other words have been linked to non-existent Wikipedia article pages. It is not necessary to link those concepts for which a Wikipedia article does not exist.
4. The text under MLIS3 and MLIS4 appear to be incomplete sentences. Perhaps you’d like to add more details here, or end these sentences with a full stop?
Netha Hussain (discuss • contribs) 19:06, 5 January 2018 (UTC)Reply

Response

Thanks for your helpful comments, I have updated the article accordingly. Regarding the title, I don't want the title to be merely "Microlissencephaly" because this is not a Wikipedia article. In this article, I tried to do a systematic review of the topic as much as possible. If you think the term "comprehensive" is not suitable for this review, feel free to suggest an alternative word.

Thank you for the changes. I think "a narrative review" would be a better alternative to "a comprehensive review".--Netha Hussain (discuss • contribs) 12:10, 16 January 2018 (UTC)Reply



Comments by Michaël R. Laurent, MD PhD ,


This is a very interesting and elegant article. I have the following suggestions:

  1. I've edited the article throughout for language and grammar. I've changed gene names to italics as per convention. Please review my edits to ascertain that they have not introduced any errors.
  2. I have also abbreviated microlissencephaly to MLIS throughout the text. On the other hand, some style manuals advise against abbreviating single words. Use of the full term throughout may be considered.
  3. Some technical terms are not defined. Although they are wikilinked, it is better for a stand-alone article that terms which are not readily understood by the average undergraduate student are also briefly explained, e.g. agyria, arthrogryposis, polymicrogyria, micromelia.
  4. If the disorder has a variable clinical course as mentioned a few times, why is the prognosis section then so narrow and pessimistic? This is not internally consistent.
  5. I suggest to add full names of all of the genes in the Table. Now, only KATNB1 and DMRTA2 are stated in full.
  6. Is it possible to add a section on Management of MLIS? I assume genetic counselling is an important aspect for example. --Steven Fruitsmaak (Reply) 19:48, 7 January 2018 (UTC)Reply
Response

Many thanks for your suggestions; I also appreciate your edits. The technical terms are now briefly explained and full gene names were added to the table. The prognosis section is renamed to "Management" and I'm working on expanding it right now.

Comments from Reviewer 1

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Review by Prof. Andrew Copp    ,
These assessment comments were submitted on , and refer to this previous version of the article

Conflicts of interest: none declared

This is a useful review of the microlissencephaly (MLIS) phenotype which is a rare condition but a distinct pathological entity. It is important that MLIS is properly understood by clinicians and scientists alike. On the whole, the article is well written and logically structured. My suggestions for improvement of the article are as follows:

Figure 1 shows a gross anatomy brain specimen with MLIS. However, while the smooth brain surface is shown, there is no illustration of the abnormally thick cortex (which is a required element of the phenotype for classification as MLIS), and also no indication of the small size of the brain, to illustrate the microcephaly aspect. As a result, this figure does not adequately show the MLIS phenotype for the non-expert reader. Additional features to resolve this problem could include histological sections to show the thick cortex (please also show a ‘normal’ brain section to illustrate the normal cortical thickness), and some indication of brain size. The latter could be done by including a calibrated scale bar (and explaining in the legend what is the normal brain size range for this fetal gestation), or better by showing a graph of change in brain size with gestational age (normal chart) and with typical MLIS sizes shown, which will lie outside the confidence intervals for normal brains.

‘Epidemiology’ section (2nd sentence). Should read: “There is not much information available about the epidemiology of microlissencepahly in the literature.”

‘Pathophysiology’ section. This section is not about pathologenesis nor physiology, and so should be renamed “Genetic factors”.

Table 1. I do not understand how this gene list has been chosen. Consulting OMIM, and searching on “microlissencephaly” produces (top to bottom): MCPH17, LIS6, CDCBM7, CDCBM1, TUBB2B, LIS3, CIT, MOPD1, TUBB3, LIS4, MCPH2 and WDR62. The genes that are also shown in Table 1 of this article are underlined. Clearly, there is only partial overlap with OMIM. Please consider carefully which genes are to be included in the final Table 1. It is also not clear why the genes are placed in the top-to-bottom order as shown. It is not alphabetical nor in relation to the order in any other columns. Perhaps the order should be alphabetical for gene name?

Figure 2. The lettering on this diagram cannot be read, and so the quality of the image needs to be improved to make it legible.

Figure 3. The arrowhead, pointing to the space in the posterior skull fossa, is not explained. Please add explanation to the figure legend.

Figure 4. Most lettering is too small to read, and needs to be improved.

Response

Dear Prof. Copp,

Thanks for your comments.

  • Regarding figure 1, I have added "showing extreme microcephaly (<3rd percentile)" to the caption as mentioned in the image source. Unfortunately, I couldn't find a histological image from an open-access article to illustrate the thick cortex issue. However, a wonderful picture to show the difference would be figure 2 J,K in this copyrighted source.
  • Epidemiology suggestion edit is done
  • Pathophysiology section is renamed to Genetics
  • Table 1: The list is meant to include all genes in the literature that are associated with MLIS. I have resorted the list alphabetically as suggested. After consulting OMIM, I found that terms like MCPH17, CDCBM7, LIS3,... are names of clinical entities, not genes. I checked the genes mutated in each of these disorders to find out that my table includes all OMIM genes except for MOPD1 gene (RNU4ATAC). I, therefore, added this gene to the table and wrote a small paragraph about it. This gene is not found in STRING database, that's why Figure 2 remains unchanged, with the caption updated.
  • Figures 2,3,4 are enlarged to be more readable
  • The small arrow in Figure 3 is a software issue, which is also not captioned in the original article, and I believe has no significant meaning.

Best,

Further comments from Reviewer 1

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Review by Prof. Andrew Copp    ,
These assessment comments were submitted on , and refer to this previous version of the article

Conflicts of interest: none declared

Dear [author],

Thanks for making these changes which certainly improve the article. My only remaining comment concerns Figure 1. I think that Fig 2J,K in the Harding et al paper would be possible to include, but not ideal as these are fairly high magnification images of part of the cortex. I was thinking of including lower magnification images of brain sections to show the increased cortical thickness overall. You could contact Dr Harding (HARDINGB(at)email.chop.edu) to see if he has any unpublished lower magnification images that he might allow you to use. His collection of pediatric pathology images is very extensive indeed, so this might be possible.

Congratulations on an excellent article.

Comments from Reviewer 2

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Review by Dr. Diptanshu Das     , pediatric neurologist
These assessment comments were submitted on , and refer to this previous version of the article

Conflict of interest: I was formerly an editorial board member of WikiJournal of Medicine.

  • A wikilink heterogeneous disorder can be placed in the second line of the lead/abstract.
  • The fact that it is autosomal recessive can be mentioned in the lead/abstract.
  • It may briefly be mentioned in the lead/introduction that 'MLIS is one of five subtypes of lissencephaly'.
  • The following references can additionally be used for 'malformation of cortical development'.
  • The PMID may be added to the reference already provided.
    • Barkovich, A.; Ferriero, Donna; Barr, R.; Gressens, P.; Dobyns, W.; Truwit, Ch.; Evrard, Ph. (June 1998). "Microlissencephaly: A Heterogeneous Malformation of Cortical Development". Neuropediatrics 29 (3): 113–119. doi:10.1055/s-2007-973545. PMID 9706619. 
  • Although figure 1 would suffice, it would bear additional utility if an image of brain of a normal 27 weeker baby could be provided for comparision. I understand that such a free image is not necessarily available but would be nevertheless helpful if you can provide.
  • The epidemiology section may be moved to the end.
  • A separate subsection can be included for classification.
  • Diagnosis: Any diagnosis is preceded by clinical suspicion and methodical thinking. A pre-natal MRI is not a routine procedure. The diagnostic methodology therefore needs to be linked and given sequentially with respect to the regular fetal monitoring. For example, the anomaly scan (ultrasound) shows something and then some other investigation is done.. things like that.. whether chorionic villus sampling or amniocentesis would be considered necessary, if so, what to look for.
  • Management: An independent section/subsection can be included for prognosis as well as for genetic counselling for subsequent pregnancies.
  • The clinical features section may be updated in accordance to the contents of the management section.
  • Management: The section can start with something like 'management is supportive (depending on the manifestations) and not curative'... whether neurodevelopmental outcomes are likely to be evident at birth, or when.. whether seizures are likely to be manifested at birth, or when thereafter.. and the management necessary for the same.. the determinants of neurosurgical interventions vs conservative management.. the regular items like neurodevelopmental follow up for developmental delay.. and the role of neurorehabilation.


Review by Dr. Diptanshu Das     , pediatric neurologist
These assessment comments were submitted on , and refer to this previous version of the article

Additional comment by reviewer 2

Response

Dear Dr. Das,

Thanks for your helpful comment

  • Abstract and epidemiology edits are done
  • the new reference you recommended is added, the other reference is updated. All references have been rechecked for reliability, and DOI is now available for 48 references out of 50. The remaining 2 references are PubMed indexed however and peer-reviewed.
  • I found a paper publishing pictures of the medial surface of a normal 27th-week fetus and have contacted the author whether he has unpublished pictures of the lateral hemispheric surface but unfortunately got no reply.
  • Classification and clinical picture are now only one section.
  • a new algorithm for the diagnosis of malformations of cortical developments is added (Figure 4)
  • Management section includes supportive treatment as well as genetic counseling and prognosis. The paragraph on genetic counseling and prognosis is very small so I believe it's not necessary to create a special section for them.

Best,


Review by Dr. Diptanshu Das     , pediatric neurologist
These assessment comments were submitted on , and refer to this previous version of the article

Conflict of interest: I was formerly an editorial board member of WikiJournal of Medicine.

Thank your for the updates. It does improve the article. From my side it is good to go. I think that the editorial board can take it up from here whether they want to suggest any further improvements to the article or whether they would like to wait for the response from the author whose permission has been sought.

Regards Dr. Diptanshu Das

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