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Time: Apr 15, 2021 07:00 PM Central Time (US and Canada)

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Greetings all:

Michelle James initiated a discussion on a recent paper on thalidomide and Ann thought it would be good to share.

Modeling algorithm for thalidomide embryopathy (TE)

A recent article by Mansour et al., 2018 (JSHE) DOI: 10.1177/1753193418800631 outlines an interesting approach to determine if the pattern of malformations is indeed TE rather than a genetic phenocopy of the disorder. They did meticulous work on correlating patterns of malformations with TE using original literature.  The authors correlated the timing of disruption and specific patterns of malformation across organ systems, not just the limbs, that implicate thalidomide.  This may well be a clue to the mechanism of TE – what genes or pathways are disrupted at these times during gestation within these target tissues (See below).  The comparison with genetic phenocopies will also be helpful at understanding the pathways disrupted by thalidomide.

This is not unlike the patterns we associate with different genes that affect unique targets (Baas et al., 2017 J Hand Surg Am. 2017. 42(7):533-545.e4.), however, TE does not have the luxury of a good animal model to verify causality.  So this type of multiple organ system data collection is an important way to tackle an underlying malformation that may have a pathway disruption or epigenetic mechanism (that could be inherited even if not genetic) that is eluding discovery by genomic approaches.

As with the “CULAPhen” software proposed by Baas (2017) that prioritizes diagnosis and testing, it looks like DATE software is still under development.  I believe these types of software programs if available on the web, would be a significant advantage to the field.

Mechanism of thalidomide embryopathy (TE) – SALL4 target of thalidomide degradation

A paper out last month by Donavan et al. (2018) suggest that TE is related to SALL4 degradation.  They have compelling data that demonstrated human and rabbit SALL4 are targets of thalidomide degradation, while subtle changes in the sequence of rodent Sall4 changes the ability of thalidomide to target Sall4 for degradation.  Human/Rabbit have a Valine at aa 388, while rodents have Isoleucine.  The finding has prompted Science to release a science news note stating that “After 60 years Scientist uncover how thalidomide causes birth defects.”(https://www.sciencedaily.com/releases/2018/08/180801131524.htm).

Ref: Donavan et al., 2018 eLife 2018;7:e38430. DOI: 10.7554/eLife.38430  

Kerby

Kerby C. Oberg, MD, PhD

Professor

Senior Administrative Associate, Division of Human Anatomy

Scientific Director, SM Summer Research Program

Attending, Division of Pediatric Pathology

Please join us in Denver, CO for the 2019 Pediatric Hand Study Group Meeting, February 15th and 16th, 2019. It is President’s Day Weekend, so please feel free to take advantage of the extra time off to enjoy some ski time in the mountains! Our meeting theme this year is “Growing up with a hand difference”.
We are excited to welcome you to the Mile High City, where 300 days of sunshine, a thriving cultural scene, diverse neighborhoods and natural beauty combine to make the world’s most spectacular playground.
The 2019 meeting will take place at Children’s Hospital Colorado, one of the top 10 children’s hospitals in the country, according to U.S. News and World Report.
Site: Children’s Hospital Colorado
Hotel Info: TBA
Host/Program : Sarah Sibbel (Sarah.Sibbel@childrenscolorado.org), Lissie Fishman (Felicity.Fishman@lumc.edu)
Dates: Feb 15th & 16th 2019
Theme: “Growing up with a hand difference”

Please note on the website a posting of a new link to Peter Carter’s Christmas Story: Richard von Volkmann, Charles Dickens, and the Children given as the Founders Lecture in 2014.  Peter is a PHSG member who worked for many years at TSRH and if you haven’t seen this lecture, check it out!

https://vimeo.com/196453618/e97b408313

SHUEE scoreform

Dear Alumni, Friends, Colleagues,

I hope that everyone has had a wonderful summer!

As we continue preparation for the inaugural Marybeth Ezaki/ Peter Carter Visiting Professorship, I wanted to make sure that everyone has a chance to submit an abstract, so we have extended the submission date to September 15th.  If that date has passed, and you would still like to submit an idea, please don’t hesitate, as we will still be willing to accept ideas up to October 1^st.

Also, I wanted to let you know that we have been approved for 11.5 CME credits for attendance.

We are expecting a great meeting and an opportunity to celebrate the teaching and friendship that Marybeth and Pete have offered us throughout the years.  I hope that you will be able to attend and participate in this inaugural event.

Please open this link to see more information about this great event, as well as to register and obtain accommodation information:

https://scottishritehospital.org/events/mepcvp

Please contact me if you have any questions!  We’re looking forward to seeing you soon!

Very Best Regards,

Scott N. Oishi, M.D., F.A.C.S.

Professor, Departments of Plastic Surgery

and Orthopaedic Surgery

UT Southwestern Medical School

Director, Hand Services

The Charles E. Seay, Jr. Hand Center