Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome

Bilateral Wilms’ Tumor in a Female with Simpson-Golabi-Behmel Syndrome

Review Data

Q: Is the topic relevant to the journal's area of interest? Is it contemporary and interesting for

researchers?

A: Good

 

Abstract & Keywords

Q: Are all required components included in the abstract? Are the keywords appropriately chosen?

A: Good

 

Goal

Q: Is the goal explicitly stated in the Introduction? Is its formulation clear and unambiguous?

A: Good

 

Structure

Q: Is the paper's structure coherent? Is it in coherence with the goal of the paper?

A: Good

 

Tools and Methods

Q: Are the methods the author uses adequate and well used?

A: Good

 

Discussion & Conclusion

Q: Is it related to the results presented before? Do you consider them as coherent?

A: Good

 

Comments: The Discussion provides an overview of the Simpson-Golabi-Behmel Syndrome (SGBS), followed by the features carried by the female carriers. It also illustrates the alterations in the gene expression of the X-chromosome among females. The Conclusion describes the case as the rare female variant of SGBS with bilateral Wilms’ tumor. Lastly, the author suggests that severely skewed X-inactivation is an unusual mechanism for the full expression of x-linked genetic disorders in females.

 

Literature

Q: Does the author utilize relevant literature?

A: Good

 

Author's knowledge

Q: What is the level of the author’s knowledge? Does the author utilize all recent contributions relevant to the topic?

A: Good

 

Length

Q: Is the paper's length adequate to the topic's significance? Do you suggest shortening the paper without losing its value?

A: Good

 

Figures & Tables

Q: Does the author use them suitably? Are legend and notations clear?

A: Good

 

Writing style

Q: Is it clear and understandable?

A: Good

 

Further comments on the paper

Comments: The Case Report presents a 20-month-old female with a palpable abdominal mass. Later the imaging revealed Wilms’ tumor in the setting of Simpson-Golabi-Behmel Syndrome. The patient was found to have a de novo deletion in the X-chromosome followed by highly skewed X-inactivation. Further, the case report highlights the implication of X-linked recessive disease identification in female patients.

 

Q: Would you recommend this manuscript for further publication?

A: Yes - Suitable to be published

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Science Repository Team

 
 

Author Info

Corresponding Author
Zoe Baker
Division of Urology, Children’s Hospital Los Angeles, Los Angeles, California, USA

Article Info

Article Type
Case Report
Publication history
Received: Wed 06, Jul 2022
Accepted: Thu 21, Jul 2022
Published: Thu 04, Aug 2022
Copyright
© 2021 Zoe Baker. 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.SCR.2022.08.01