Disorders of Metabolism with Dr. Deb Regier (Part 2)
10/21/24 • 27 min
About our Guest:
Debra Regier, M.D., Ph.D., is the chief of Genetics and Metabolism at Children's National Hospital in Washington, DC. Before transitioning to clinical medicine, Dr. Regier was a biochemist. She came to CNH as a combined pediatric genetics resident and later completed a metabolic fellowship at NIH and served as Children's National's medical genetics program director.
Dr. Regier’s current work in educational outcomes research has led to federal, industry, and philanthropic funding of almost two million dollars. She has received multiple awards for her impact on rare disease education across the country and is the president-elect of the Society of Inherited Metabolic Disorders.
Learning Objectives:
By the end of this podcast, listeners should be able to:
1. List the three main metabolic pathways and describe how they work together to make ATP
2. Describe the science behind the main diagnostic tests for inborn errors of metabolism
3. Explain the presenting symptoms and initial management of common, life-threatening inborn errors of metabolism.
How to support PedsCrit:
Please complete our Listener Feedback Survey
Please rate and review on Spotify and Apple Podcasts!
Donations are appreciated @PedsCrit on Venmo , you can also support us by becoming a patron on Patreon. 100% of funds go to supporting the show.
Thank you for listening to this episode of PedsCrit. Please remember that all content during this episode is intended for educational and entertainment purposes only. It should not be used as medical advice. The views expressed during this episode by hosts and our guests are their own and do not reflect the official position of their institutions. If you have any comments, suggestions, or feedback-you can email us at [email protected]. Check out http://www.pedscrit.com for detailed show notes. And visit @critpeds on twitter and @pedscrit on instagram for real time show updates.
About our Guest:
Debra Regier, M.D., Ph.D., is the chief of Genetics and Metabolism at Children's National Hospital in Washington, DC. Before transitioning to clinical medicine, Dr. Regier was a biochemist. She came to CNH as a combined pediatric genetics resident and later completed a metabolic fellowship at NIH and served as Children's National's medical genetics program director.
Dr. Regier’s current work in educational outcomes research has led to federal, industry, and philanthropic funding of almost two million dollars. She has received multiple awards for her impact on rare disease education across the country and is the president-elect of the Society of Inherited Metabolic Disorders.
Learning Objectives:
By the end of this podcast, listeners should be able to:
1. List the three main metabolic pathways and describe how they work together to make ATP
2. Describe the science behind the main diagnostic tests for inborn errors of metabolism
3. Explain the presenting symptoms and initial management of common, life-threatening inborn errors of metabolism.
How to support PedsCrit:
Please complete our Listener Feedback Survey
Please rate and review on Spotify and Apple Podcasts!
Donations are appreciated @PedsCrit on Venmo , you can also support us by becoming a patron on Patreon. 100% of funds go to supporting the show.
Thank you for listening to this episode of PedsCrit. Please remember that all content during this episode is intended for educational and entertainment purposes only. It should not be used as medical advice. The views expressed during this episode by hosts and our guests are their own and do not reflect the official position of their institutions. If you have any comments, suggestions, or feedback-you can email us at [email protected]. Check out http://www.pedscrit.com for detailed show notes. And visit @critpeds on twitter and @pedscrit on instagram for real time show updates.
Previous Episode
Disorders of Metabolism with Dr. Deb Regier (Part 1)
About our Guest:
Debra Regier, M.D., Ph.D., is the chief of Genetics and Metabolism at Children's National Hospital in Washington, DC. Before transitioning to clinical medicine, Dr. Regier was a biochemist. She came to CNH as a combined pediatric genetics resident and later completed a metabolic fellowship at NIH and served as Children's National's medical genetics program director.
Dr. Regier’s current work in educational outcomes research has led to federal, industry, and philanthropic funding of almost two million dollars. She has received multiple awards for her impact on rare disease education across the country and is the president-elect of the Society of Inherited Metabolic Disorders.
Learning Objectives:
By the end of this podcast, listeners should be able to:
1. List the three main metabolic pathways and describe how they work together to make ATP
2. Describe the science behind the main diagnostic tests for inborn errors of metabolism
3. Explain the presenting symptoms and initial management of common, life-threatening inborn errors of metabolism.
How to support PedsCrit:
Please complete our Listener Feedback Survey
Please rate and review on Spotify and Apple Podcasts!
Donations are appreciated @PedsCrit on Venmo , you can also support us by becoming a patron on Patreon. 100% of funds go to supporting the show.
Thank you for listening to this episode of PedsCrit. Please remember that all content during this episode is intended for educational and entertainment purposes only. It should not be used as medical advice. The views expressed during this episode by hosts and our guests are their own and do not reflect the official position of their institutions. If you have any comments, suggestions, or feedback-you can email us at [email protected]. Check out http://www.pedscrit.com for detailed show notes. And visit @critpeds on twitter and @pedscrit on instagram for real time show updates.
Next Episode
Acid-Base Diagnosis & Clinical Approach with Dr. Bill Bortcosh--Part 1
Dr. Bill Bortcosh received his Doctorate of Medicine from Albany Medical School, NY. He completed his pediatric residency at the University of Massachusetts Medical School followed by pediatric critical care fellowship at Massachusetts General Hospital.
Learning Objectives:
By the end of this podcast series, listeners should be able to discuss:
- Why critical evaluation of a patient’s acid-base status can be useful and practical in the acute care setting
- The basic pathophysiology of each acid-base disturbance
- The definition of an anion gap and how to use it as a screening tool
- The use of Winter’s formula to identify a respiratory acidosis or alkalosis
- The utility of the delta-delta to identify additional metabolic acidosis or alkalosis
Link to Acid/Base Handout
References
1. Carmody JB, Norwood VF. A clinical approach to paediatric acid-base disorders. Postgrad Med J. 2012;88(1037):143-51.
2. Carmody JB, Norwood VF. Paediatric acid-base disorders: A case-based review of procedures and pitfalls. Paediatr Child Health. 2013;18(1):29-32.
3. Emmett M. Approach to the Patient With a Negative Anion Gap. Am J Kidney Dis. 2016;67(1):143-50.
4. Luke RG, Galla JH. It is chloride depletion alkalosis, not contraction alkalosis. J Am Soc Nephrol. 2012;23(2):204-7.
5. https://emcrit.org/ibcc/salicylates/
Citation: Bortcosh W, Shanklin A, Hodges Z. Acid-Base Diagnosis & Clinical Approach. PedsCrit Online Podcast. 10/2024. https://www.pedscrit.com/acid-base-diagnosis-clinical-approach-with-dr-bill-bortcosh-part-1/
How to support PedsCrit:
Please complete our Listener Feedback Survey
Please rate and review on Spotify and Apple Podcasts!
Donations are appreciated @PedsCrit on Venmo , you can also support us by becoming a patron on Patreon. 100% of funds go to supporting the show.
Thank you for listening to this episode of PedsCrit. Please remember that all content during this episode is intended for educational and entertainment purposes only. It should not be used as medical advice. The views expressed during this episode by hosts and our guests are their own and do not reflect the official position of their institutions. If you have any comments, suggestions, or feedback-you can email us at [email protected]. Check out http://www.pedscrit.com for detailed show notes. And visit @critpeds on twitter and @pedscrit on instagram for real time show updates.
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