Mabry Syndrome

Activity Details
  • Credit Amounts:
    • CME: 1.00
    • Other: 1.00
  • Cost: Free
  • Release: May 27, 2020
  • Expires: May 26, 2023
  • Estimated Time to Complete:
    1 Hour(s)
  • System Requirements:
  • Average User Rating:
    ( Ratings)

Faculty

Miles Thompson Miles Thompson, PhD
Assistant Project Scientist
Department of Pediatrics
UCSD School of Medicine
La Jolla, California

Needs Statement

Mabry Syndrome is a condition characterized by intellectual disability, distinctive facial features, increased serum levels of the enzyme called alkaline phosphatase and other signs and symptoms. People with Mabry Syndrome have intellectual disability that is often moderate to severe. This module will increase the awareness of this rare genetic disorder, and others like it, and the rapid evolution in identification of these disorders.

Target Audience

Physicians, Nurse Practitioners, Nurses, Social Workers, Certified Medical Coders, Medical Students, Pediatric Residents, Interns and Fellows.

Objectives

Upon completion of this activity, participants will be able to:  

  • Describe the features of Mabry Syndrome.
  • Discuss how rare genetic syndromes are identified.
  • Describe how current technology has augmented discovery around rare genetic disorders using Mabry syndrome as an example.

Accreditation

CME
The University of Kentucky College of Medicine is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

The University of Kentucky College of Medicine designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The University of Kentucky College of Medicine presents this activity for educational purposes only. Participants are expected to utilize their own expertise and judgment while engaged in the practice of medicine. The content of the presentations is provided solely by presenters who have been selected for presentations because of recognized expertise in their field.

ACGME Competencies

  • Patient care
  • Medical knowledge
  • Systems-based practice

Other
UK Healthcare CECentral certifies this activity for 1.00 hour of participation.

Faculty Disclosure

No speakers, authors, planners or content reviewers have any relevant financial relationships to disclose. 

The material presented in this course represents information obtained from the scientific literature as well as the clinical experiences of the speakers. In some cases, the presentations might include discussion of investigational agents and/or off-label indications for various agents used in clinical practice. Speakers will inform the audience when they are discussing investigational and/or off-label uses.

Content review confirmed that the content was developed in a fair, balanced manner free from commercial bias. Disclosure of a relationship is not intended to suggest or condone commercial bias in any presentation, but it is made to provide participants with information that might be of potential importance to their evaluation of a presentation.

Acknowledgement

In collaboration with UK Department of Pediatrics.

CE Content Concerns

Policy

Concerns or complaints related to ACPE or ACCME standards may be submitted in writing to the Director of UK HealthCare CECentral by fax to 859-323-2920, or by mail to 2365 Harrodsburg Road, Ste B475, Lexington, KY 40504

Procedures

  • The Director or his/her designee will review, investigate, forward and/or respond to complaints and will put forth a best effort to adjudicate the issue(s), along with CECentral staff members, within two (2) weeks of receipt of the grievance or complaint.
  • If needed, concerns, complaints, or grievances will be brought before the UK HealthCare CECentral Advisory Board.
  • Issues regarding activity content also will be reviewed and addressed by the Activity Director.
  • A written decision will be issued in a timely manner by the Director of UK HealthCare CECentral or his/herdesignee.
  • Grievances will be considered when planning future activities.

Appeal Procedure

  • Persons who wish to appeal a decision should address the appeal by email, fax or in writing to the Director of UK HealthCare CECentral within two (2) weeks of receipt of the response.
  • The Director will bring the appeal to the UK HealthCare CECentral Advisory Board.
  • The results of the appeal will be sent to the participant no later than two (2) weeks following the meeting of the board.