A new Rapid Recommendation from The BMJ suggests that for pregnant women, they may wish to avoid certain antiviral treatments for HIV. This recommendation differs from the WHO's, and to discuss why that is, and what makes that difference important, we're joined by Reed Siemieniuk, a physician and methodologist from McMaster University, and Alice...

If you're a patient in the UK, increasingly, your first interaction with the healthcare system won't be the traditional face to fact chat with your doctor - instead you'll have a telephone consultation. The prevalence of these telephone consultations is increasing, and being promoted by CCGs and private companies who administer them - usually as...

Acute respiratory distress syndrome was first described in 1967 and has become a defining condition in critical care. Around 40% of patients with ARDS will die, and survivors experience long term sequelae. No drug treatments exist for ARDS, however good supportive management reduces harm and improves outcome. In this podcast, John Laffey,...

That’s Jo Shapiro is a surgeon and manager in Brigham and Women’s hospital, she’s also director of the Center for Professionalism and Peer Support, and has written an editorial for The BMJ on tackling unprofessional behaviour. In this discussion, she and I talked about what she thinks (beyond the illegal) are the most damaging behaviours seen...

In 2016, from an estimated pre-war population of 22 million, the United Nations (UN) identified 13.5 million Syrians requiring humanitarian assistance, of which more than 6 million are internally displaced within Syria, and around 5 million are refugees outside of Syria. In this podcast, Aula Abarra, consultant in infectious disease from London,...

Worldwide, the rate of type II diabetes is estimated to be around 1 in 11 people - about 9%. For the Pima people of Arizona, 38% of the adult population have the condition - but across the border in Mexico, the rate drops down to 7%. The difference between the groups is their life experience - one side displaced, the other on their traditional...

Getting feedback from people who use NHS services is essential to assessing their value - and improving their quality. Hospitals and general practices widely post information about patient's satisfaction with their services on their websites, but approach tells us little about how feedback changes things on the ground . In this podcast, James...

Sue Farrington is chair of the Patient Information Forum, a member organisation which promotes best practice in anyone who produces information for patients. In this podcast, she discusses what makes good patient information, why doctors should be pleased when patients arrive at an appointment with a long list of questions, and why patients are...

We at The BMJ care about food, and if our listener stats are to be believed, so do you. In this podcast we’re looking at quality as an important driver of a good diet. At our recent food conference - Food For Thought - hosted in Zurich by Swiss Re we brought researchers in many fields of nutritional science together. We asked people with...

On the podcast, we’ve talked a lot about the limits of medicine - where treatment doesn’t work, or potentially harms. But in that conversation, we’ve mainly focused on specific treatments. Now a new analysis, broadens that to talk about patients being admitted to a whole ward - intensive care. The authors of that article contend that, often,...

You’ll have read in a clinical trial “Most patients had an acceptable adverse-event profile.” Or that a drug “has a manageable and mostly reversible safety profile.” And that “the tolerability was good overall.” In this podcast, Bishal Gyawali (@oncology_bg) joins us to describe what events those terms were actually describing in cancer drug...

We have had two articles published recently on bmj.com, looking at drug prevention of HIV; PeP - Post-exposure Prophylaxis and PreP - Pre-exposure Prophylaxis, neither prevent the virus from entering the body, but they do prevent the infection from taking hold. There are lots of questions that doctors have about these - what are the risk...

Renza Scibilia and Chris Aldred have diabetes, and their introduction to the idea of complications arising from the condition were terrifying. Because of this early experience, and Chris's later development of complications, they have campaigned to make doctors really think about the way in which they talk about complications with patients....

It can be difficult to know what to do when a person in severe psychological distress presents to a general practice or community clinic, particularly if they are behaving aggressively, or if they are refusing help. Most patients who are acutely disturbed present no danger to others, however situations can evolve rapidly. Frontline staff need to...

As England’s presumed consent law for 2020 clears parliament, Veronica English, head of medical ethics and human rights at the BMA, say that evidence from Wales and other countries shows that it could increase transplantation rates. But Blair L Sadler, physician and senior adviser to California State University, consider such legal changes a...

We’ve been banging the drum about transparency of payment to doctors for years - we’ve even put a moratorium on financial conflicts of interest in the authors of any of our education articles. Not because we think that all doctors who receive money from industry are being influenced to push their agenda - but because we have no way of telling when...

Burnout is a problem in healthcare - it’s a problem for individuals, those who experience it and decide to leave a career they formerly loved, but it’s also a problem for our healthcare system. Burnout is associated with an increase in medical errors, and poor quality of care. Fundamentally it’s a patient safety issue. But, unlike other patient...

In 2001, Gottfried Hirnschall joined the WHO to work on the global response to HIV/AIDs, 18 years later he just retired as the director of WHO’s department for HIV and Hepatitis. The intervening period, almost half the time we’ve been aware of the disease the fight against the infection has been characterised by scientific breakthroughs, and...

We know that exercise is good for you - the WHO recommends at least 150 minutes of moderate intensity or 75 minutes of vigorous intensity aerobic physical activity each week. That recommendation is built on evidence that relied on self reporting that may underestimate the amount of lower intensity exercise those people were doing, and at the...

We heard a few podcasts ago about burnout - what it is, and why it should be thought of as a systems issue. Now a project in the Netherlands is trying to investigate who it is that is particularly at risk of burnout, and hopes to test whether individually tailored coaching and counselling can help those who are experiencing the symptoms change the...

This week the Trump administration has banned the sale of flavoured vapes in the USA. The reason for that is the sudden rash of cases of pulmonary disease, including deaths, linked to vaping. The mechanism by which vaping may be causing damage to the lungs is as yet unclear, and our understanding is hampered by the heterogeneous nature of the...

Giving staff the confidence to speak out is important in healthcare - It's a key aspect of the WHO patient safety checklist, decreasing incidence of medical error, but it's also important to stop incidents of harassment and abuse which undermine staff and increase burnout. Creating that culture is a difficult task, but two hospitals in the...

Reverse innovation may sound like some attempt to return to the dark ages - but it has a specific meaning, especially when it comes to med-tech. It’s about where we look for innovation - and overturning our preconceived ideas of where new ideas come from. Mark Skopec, and Matthew Harris - both from Imperial College London are two of the authors...

In this special edition of talk evidence, Helen Macdonald and Carl Henneghan talk about creating an evidence base from harms. We hear from a member of the pubic who experienced harm from a drug, and now advises the FDA. A former regulator who explains why reporting harms is so important. And finally, an investigative journalist who explains what...

In many countries (including the UK and Australia) it is still common practice for hospital doctors to write letters to patients’ general practitioners (GPs) following outpatient consultations, and for patients to receive copies of these letters. However, Hugh Rayner, consultant nephrologist, and Peter Rees, former Chair of the Academy of...

We all know we should be doing more exercise, and one way to do that is by active commuting - journeying to work on foot or by bike. One thing preventing people from taking up cycling is the fear of being involved in road traffic accidents, and that the risk isn't worth the benefit of the extra exercise. It’s even more confusing when air...

As we cover the covid-19 outbreak, we want to hear some of the stories from the frontline - And who better to heart of what this pandemic is doing to the profession in the UK, than some of the people who write regularly for The BMJ? In this first one, we wanted to look specifically at acute care - those at the sharp end of the response, so we're...

EJ Kurth-Kraczek
Aug 1, 1999; 48:1667-1671
Articles

Shane Rea
Nov 1, 1997; 46:1667-1677
Perspectives in Diabetes

Joachim Spranger
Mar 1, 2003; 52:812-817
Pathophysiology

D Dabelea
Dec 1, 2000; 49:2208-2211
Articles

Andreas Festa
Apr 1, 2002; 51:1131-1137
Complications

Patrice D. Cani
Jun 1, 2008; 57:1470-1481
Metabolism

Permanent neonatal diabetes mellitus (PNDM) is caused by reduced β-cell number or impaired β-cell function. Understanding of the genetic basis of this disorder highlights fundamental β-cell mechanisms. We performed trio genome sequencing for 44 patients with PNDM and their unaffected parents to identify causative de novo variants. Replication studies were performed in 188 patients diagnosed with diabetes before 2 years of age without a genetic diagnosis. EIF2B1 (encoding the eIF2B complex α subunit) was the only gene with novel de novo variants (all missense) in at least three patients. Replication studies identified two further patients with de novo EIF2B1 variants. In addition to having diabetes, four of five patients had hepatitis-like episodes in childhood. The EIF2B1 de novo mutations were found to map to the same protein surface. We propose that these variants render the eIF2B complex insensitive to eIF2 phosphorylation, which occurs under stress conditions and triggers expression of stress response genes. Failure of eIF2B to sense eIF2 phosphorylation likely leads to unregulated unfolded protein response and cell death. Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for β-cells and highlight EIF2B1’s fundamental role within this pathway.

Children at increased genetic risk for type 1 diabetes (T1D) after environmental exposures may develop pancreatic islet autoantibodies (IA) at a very young age. Metabolic profile changes over time may imply responses to exposures and signal development of the first IA. Our present research in The Environmental Determinants of Diabetes in the Young (TEDDY) study aimed to identify metabolome-wide signals preceding the first IA against GAD (GADA-first) or against insulin (IAA-first). We profiled metabolomes by mass spectrometry from children’s plasma at 3-month intervals after birth until appearance of the first IA. A trajectory analysis discovered each first IA preceded by reduced amino acid proline and branched-chain amino acids (BCAAs), respectively. With independent time point analysis following birth, we discovered dehydroascorbic acid (DHAA) contributing to the risk of each first IA, and -aminobutyric acid (GABAs) associated with the first autoantibody against insulin (IAA-first). Methionine and alanine, compounds produced in BCAA metabolism and fatty acids, also preceded IA at different time points. Unsaturated triglycerides and phosphatidylethanolamines decreased in abundance before appearance of either autoantibody. Our findings suggest that IAA-first and GADA-first are heralded by different patterns of DHAA, GABA, multiple amino acids, and fatty acids, which may be important to primary prevention of T1D.

Edmond Campbell/Senior Parliamentary Reporter Conceding that healthcare workers in the public sector are burnt out as they combat COVID-19, Health and Wellness Minister Dr Christopher Tufton says the Government is taking steps to boost its...

“I know this has been some difficult times for us with the pandemic, but I know we are going to get through this together – Jamaica together. We are going to continue our social distancing. We are going to continue practising our incredible hygiene...

DOVER, St Mary: Residents of Epsom and Dover in St Mary are on edge, but have accepted quarantine measures imposed by the Government to curtail the spread of the dreaded coronavirus in that parish. Security checkpoints at both ends of the parish...

The wet weather last Saturday (May 2) could not dampen the spirits of award-winning gospel artiste and ordained evangelist Kevin Downswell as he ventured into the St Catherine community of Central Village, where he spent some of his formative years...

The Senate on Friday paid tribute to distinguished consultant psychiatrist, Frederick Hickling, for his tremendous contribution to persons with intellectual disabilities. Hickling died on Thursday. Senator Dr Saphire Longmore remembered Professor...

OLIEVENHOUTBOS, South Africa (AP) — Thousands of people stood in line for hours on Saturday in a South African township waiting for handouts of food. The scene has repeated for days in one of the world’s most unequal countries as...

One of the best catchers in baseball was available all winter in J.T. Realmuto, and the Reds were very much one of the teams in hot pursuit in trade talks with the Marlins. But on Thursday, it was the Phillies who acquired Realmuto from Miami.

Though some Reds fans were disappointed that Billy Hamilton wasn't brought back this season, it didn't take long for Cincinnati to find another dynamic player who also brings flash and unpredictability. That would be outfielder Yasiel Puig.

Wednesday marked the first time that manager David Bell got to address Reds players as a group when he spoke to pitchers and catchers ahead of their first workout of Spring Training. Bell put a lot of thought into what he wanted to tell them.

Since Jesse Winker suffered a season-ending shoulder injury on July 23, he's gained a lot of company in the corner-outfield spots.

THE EDITOR, Madam: On Wednesday at 8:30 a.m., while watching TVJ, I saw Get Moving home workout series. Very good, TVJ and the Ministry of Health, for bringing this workout programme into our homes. Minister Tufton was a participant; he truly...

THE EDITOR, Madam: Words cannot describe my feeling of loss on hearing that prominent psychiatrist Professor Fred Hickling has died. Professor Hickling was one of Jamaica’s treasures through his work in the field of community mental health. His...