All the more reason, Why Everyone Needs to Know about Urea Cycle Disorders (and other IMDs contributing to hyperammonaemia). https://soundcloud.com/user-109006120/why-everyone-needs-to-know-about-urea-cycle-disorders?utm_source=clipboard&utm_medium=text&utm_campaign=social_sharing

JIMD Lawrence

This week the panel are joined by Michael Brady, the national advisor for LGBT Health to discuss why your patient’s queerness might matter to you, and how to practice inclusively, as well as an interview with Lisa Power MBE,  a British sexual health and LGBT rights campaigner. Have a listen to hear Michael Brady answering your questions, agony aunt style!

Inclusive Practice

The mental health of athletes has been in the spotlight throughout this summer, as high-profile athletes such as Naomi Osaka and Simone Biles have spoken out about the importance of prioritizing their physical, and especially their mental, well-being.

In this episode, host Dr. Giselle Aerni, MD is joined by AMSSM Past Presidents Dr. Cindy Chang, MD and Dr. Margot Putukian, MD to discuss the AMSSM Position Statement on Mental Health Issues and Psychological Factors in Athletes, which Dr. Aerni also co-authored.

In this 33-minute conversation, they address the following topics:
The importance of a position statement on the mental health of athletes and the novel aspects addressed in the document
The team-based approach to mental health care and why it’s a crucial component for the well-being of athletes
How the acceptance of mental health issues has evolved in recent years and the impact social media has on those perceptions
The impact of the COVID-19 pandemic on athletes’ mental health and how it reinforces the need for conversations about this vital issue

Resources:
Mental health issues and psychological factors in athletes: detection, management, effect on performance and prevention: American Medical Society for Sports Medicine Position Statement (https://bjsm.bmj.com/content/54/4/216.full)
Madam Athlete Podcast (https://madamathlete.com/)

The Importance of Mental Health in Athletes with Two AMSSM Past Presidents EP #483

This podcast is focused on the paper "Serum ammonia use: unnecessary, frequent and costly”, published online in Frontline Gastroenterology in August 2021. Dr Oliver Tavabie, Trainee Associate Editor of FG and Hepatology SpR at the Royal London Hospital, interviews the authors Drs Elizabeth Aby, Andrew Olson and Nicholas Lim, from the University of Minnesota.
Read the paper on the Frontline Gastroenterology website: https://fg.bmj.com/content/early/2021/08/17/flgastro-2021-101837.
Listen to our regular podcasts and subscribe in Apple Podcasts, Google Podcasts, Stitcher and Spotify.

Serum ammonia use: unnecessary, frequent and costly

In this episode of the Heart podcast, Digital Media Editor Dr. James Rudd is joined by a vascular biology legend, Professor Peter Libby from Harvard University and Chief of Cardiovascular Medicine at Brigham and Women's Hospital in Boston. They discuss how the inflammation hypothesis of atherosclerosis has been proven by the CANTOS trial and what the future might hold. We trust you'll enjoy the police sirens in the middle of the interview and hope you enjoy the discussion.

Link for CANTOS study - http://www.nejm.org/doi/full/10.1056/NEJMoa1707914

Inflammation and heart disease - what's next?

In this episode of the Heart podcast, Digital Media Editor DrJames Rudd is joined by Dr Cara Hendry from Manchester and Dr Iain Simpson from Southampton. They are passionate about reducing barriers that exist in cardiology and other medical specialities. They discuss what the issues are and what is being done to help in the UK and beyond. If you enjoy the show, please leave us a podcast review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2

Women in cardiology - breaking down the barriers

In this episode of the Heart podcast, Digital Media Editor, Dr James Rudd, is joined by Professor Charalambos Antoniades from Oxford, UK. They discuss his novel method of measuring coronary plaque inflammation using CT imaging, and how this method might be important for predicting heart attacks.
If you enjoy the show, please leave us a podcast review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2
Link to published paper: https://heart.bmj.com/content/early/2018/07/24/heartjnl-2017-312324

Perivascular adipose tissue and coronary atherosclerosis

In this episode of the Heart podcast, Digital Media Editor, Dr James Rudd, is joined by Dr Charlotte Warren-Gash from the London School of Hygiene and Tropical Medicine. They discuss the links between respiratory infections and subsequent heart attacks and strokes.
If you enjoy the show, please subscribe to the podcast to get episodes automatically downloaded to your phone and computer. Also, please consider leaving us a review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2
Link to published paper: https://www.lshtm.ac.uk/newsevents/news/2018/respiratory-infections-could-increase-risk-heart-attack-and-stroke

Respiratory infections and subsequent heart attacks and strokes

In this episode of the Heart podcast, Digital Media Editor Dr James Rudd, is joined by Professor Bernard Prendergast from St Thomas' Hospital, London. They discuss his recent publication in Heart concerning the ability of the stethoscope to detect important valve disease in asymptomatic primary care patients. They also cover POCUS, the feasibility of screening elderly patients for valve disease and whether Bernard still uses a stethoscope in real life.

If you enjoy the show, please subscribe to the podcast to get episodes automatically downloaded to your phone and computer. Also, please consider leaving us a review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2

Link to published paper: 
Primary paper: https://heart.bmj.com/content/early/2018/07/24/heartjnl-2018-313082
Editorial: https://heart.bmj.com/content/early/2018/05/24/heartjnl-2018-313474
The Oxvalve study: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5216199/

Do we still need stethoscopes?

In this episode of the Heart podcast, Digital Media Editor, Dr James Rudd, is joined by Dr Eric Topol, founder and director of the Scripps Research Translational Institute. They discuss the impact that AI will have in medicine and how this will affect us all.

Relevant links related to this podcast:
About Dr Topol - https://drerictopol.com/about/
Nature Medicine AI review - https://www.nature.com/articles/s41591-018-0300-7
Twitter - https://twitter.com/EricTopol?ref_src=twsrc%5Egoogle%7Ctwcamp%5Eserp%7Ctwgr%5Eauthor
Book - https://drerictopol.com/book/deep-medicine/
NHS Topol review - https://www.hee.nhs.uk/our-work/topol-review

Deep Medicine with Eric Topol, author of the Topol NHS review

Professor Bindoff and Professor Gorman, two luminaries of the world of mitochondrial medicine, speak with James Nurse about recent work in JIMD expanding knowledge on safe drug use in Primary Mitochondrial Disease. Professor Bindoff also explains a proposed classification for Polymerase Gamma disease including when to suspect this condition and how to investigate it.

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus
Maaike C. De Vries et al
https://doi.org/10.1002/jimd.12196

Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases
Omar Hikmat et al
https://doi.org/10.1002/jimd.12211

Mitochondria, medication and POLG

In this episode of the Heart podcast, Digital Media Editor, Dr James Rudd, is joined by Dr Thomas Butler from the University of Chester. They discuss his Review paper in Heart entitled "Optimum nutritional strategies for cardiovascular disease prevention and rehabilitation (BACPR)".

If you enjoy the show, please subscribe to the podcast to get episodes automatically downloaded to your phone and computer. Also, please consider leaving us a review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2

Link to published paper: https://heart.bmj.com/content/106/10/724

Diet after a heart attack - what should we tell patients?

Dr Michio Hirano and Dr Rita Rinaldi discuss their recent work that summarises a 2 day consensus conference to provide guidance on the diagnosis, prognosis and treatment of Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network
Michio Hirano et al.

https://doi.org/10.1002/jimd.12300

Taking a position on MNGIE

The journal recently published two articles on TANGO2 deficiency, describing a  case series of 20 patients and exploring the uncertain pathophysiology of this condition. Dr Sebastian Montealgre, Dr Pascale de Lonlay, Dr Felix Distelmaier and Dr Michael Sacher joined our social media editor to explain what they observed and the implications of those findings.

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect
Claire‐Marine Bérat et al. 
https://doi.org/10.1002/jimd.12314

The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria
Miroslav P. Milev et al. 
https://doi.org/10.1002/jimd.12312

It takes two to TANGO2

In this episode of the Heart podcast, Digital Media Editor, Dr James Rudd, is joined by lipid expert Dr Susan Connolly from Enniskillen, Northern Ireland. They discuss primary and secondary prevention, risk scores, imaging and two new drugs with the potential to improve lipid management significantly over the next 5 years.
If you enjoy the show, please subscribe to the podcast to get episodes automatically downloaded to your phone and computer. Also, please consider leaving us a review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2

A lipid management masterclass with Dr Susan Connolly

Peter Clayton, Emma Footitt and Curtis Coughlin join us to discuss the new consensus guidelines for PDE-ALDH7A1 disease. Professor Clayton explains the pathophysiology and history of the condition. Dr Footitt and Dr Clayton discuss the metabolic investigations of early onset seizures as well as the proposed management of pyridoxine-dependent epilepsy.

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
Curtis R. Coughlin et al.
https://doi.org/10.1002/jimd.12332

Pyridoxine-dependent epilepsy

In the 16th podcast from the Journal of Inherited Metabolic Disease, Dr Stephan Kemp and Dr Eric Mallack join our social media editor to discuss their recent papers on X-linked adrenoleucodystrophy. Dr Kemp explains how a variety of model systems are used to aid disease understanding and help in the development of new therapies, whilst Dr Mallack shares new guidance around surveillance for the onset of cerebral ALD in childhood.

MRI surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines
Eric J. Mallack et al.
https://doi.org/10.1002/jimd.12356

Evolution of adrenoleukodystrophy model systems
Roberto Montoro et al.
https://doi.org/10.1002/jimd.12357

Serum ammonia use: unnecessary, frequent and costly

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