Participants in our discussion on person centred care in January agreed that a change in culture and better use of technology could benefit both patients and doctors. At the roundtable: Fiona Godlee (chair), editor in chief, The BMJ Tessa Richards, senior editor, patient partnership, The BMJ Rosamund Snow, patient editor, The BMJ Navjoyt Ladher,...

Mark Folman, a GP in Nottinghamshire, is concerned that more and more work, with more and more patients, means less time with those who really need him. BMJ Voices is a collection of readers’ experiences of working in the NHS. For this, The BMJ is seeking short audio submissions from UK listeners. These submissions will be published on...

Michelle Sinclar, a GP in Hampshire who is concerned that GP premises aren't fit for purpose and limit her ability to provide fully rounded patient care. BMJ Voices is a collection of readers’ experiences of working in the NHS. For this, The BMJ is seeking short audio submissions from UK listeners. These submissions will be published on...

They have a big impact on the diet of American citizens, and those of most Western nations, so why does the expert advice underpinning US government dietary guidelines not take account of all the relevant scientific evidence asks Nina Teicholz. Read the full investigation: http://www.bmj.com/content/351/bmj.h4962

Medicine has long been a rewarding career, but doctors say the profession needs to overcome the frustrations of working in the NHS to ensure it remains so. During the Big Debate at BMJ Live in London last week six speakers argued for and against the motion, “This house believes that medicine is the best career in the world.” After presentations...

Francesca Conway, from the Department of Primary Care and Public Health at Imperial College London is co-author of an article on diagnosis of COPD. She joins us to discuss the major guideline recommendations, and highlights where they concur and where they differ. Read the full article: http://www.bmj.com/content/351/bmj.h6171

The BMJ recently held a discussion between experts in the fields of general practice, emergency medicine, and paediatrics about the state of out of hours care in the UK, and crucially offered their vision for a better service. Are children a special case, can urgent care ‘hubs’ be a silver bullet, is NHS 111 up to the job of triaging patients,...

Failures in implementation of data sharing projects have eroded public trust. In the wake of NHS England’s decision to close down its care.data programme, Tjeerd-Pieter van Staa professor of health e-research at the University of Manchester, examines what lessons must be learnt, and what we can do better next time. Read the full...

With the emergence of sofobuvir, a new direct acting antiviral, treatment for Hepatitis C infection is currently undergoing it's greatest change since the discovery of the virus 25 years ago. However Gilead, who manufacture the treatment, are under fire for the cost of the druge - around $90 000 for a course of treatment. Victor Roy, doctoral...

"I say to all Australian doctors - young, old, the political and the apolitical - that on this depends not just our ethical credibility as a profession, but our shared humanity. " Following the leaked emails published in The Guardian newspaper, alleging abuse of asylum seekers detained by the Australian government on the Pacific island of Nauru,...

Glasgow GP, writer, broadcaster, and The BMJ's weekly columnist Margaret McCartney joins us to talk about her new book "The State of Medicine: Keeping the Promise of the NHS". Read all of Margaret's columns: goo.gl/iKmmie

Scott Murray, professor of primary palliative care at the University of Edinburgh, has written, and talked in this podcast before, about the benefits of early palliative care - and today he’s back to explain how illness trajectory, and the pattern of decline at the end of life, affects 4 main areas of wellness - physical, social, psychological and...

When a person’s heart or breathing stops and the cause is reversible, immediate cardiopulmonary resuscitation (CPR) offers a chance of life. However, when a person is dying—for example, from organ failure, frailty, or advanced cancer—and his or her heart stops as a final part of a dying process, CPR will not prevent death and may do harm. But...

The BMJ publishes a lot of educational articles, and in an attempt to help you with your CPD, we have put together this round-up. Our authors and editors will reflect on the key learning points in the articles we discuss, and explain how they may change their practice in light of that new understanding. In this week's round up we're...

For seven years, Republicans have vowed to repeal the Affordable Healthcare Act (Obamacare), and that promise took a central place in President Trump's campaign. The first major vote to replace it was due to happen last week, but was cancelled at the 11th hour. In advance of the potential vote, The BMJ published a debate asking "Should US doctors...

Around 1 in 10 children and young people worldwide have mental health difficulties that substantially affect their lives. Child mental health services often concentrate on risk reduction, at the expense of the wider aspects of a child's wellbeing. As part of the high integrity healthcare series, this podcast focuses on novel ways of providing...

Adoption of shared decision making into routine practice has been remarkably slow, despite 40 years of research and considerable policy support. In 2010, the Health Foundation in the UK commissioned the MAGIC (Making Good Decisions in Collaboration) programme to design, test, and identify the best ways to embed shared decision making into...

It’s been 10 years since electronic cigarettes hit the shelves in a big way - and since there controversy has reigned about their health effects - are they less unhealthy than smoking traditional tobacco cigarettes, and will they increase nicotine dependence? Its to that last point that new research, published on BMJ.com is looking into -...

The world bank was set up in 1944. In the aftermath of the second world war, the institution was there to give loans to countries rebuilding after the conflict. Their first loan went to France - but with stipulations about repayment that set a tone for future funds. A new series, authored by Devi Sridhar, and her team from the University of...

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...

Manflu, the phenomenon that men experience the symptoms of viral illness more than woman, is usually used with derision - but a new review, published in the Christmas edition, is asking - is there a plausible biological basis for this sex difference? Kyle Sue is a clinical assistant professor in family medicine at Memorial University of...

Many older adults have difficulty understanding speech in acute healthcare settings owing to hearing loss, but the effect on patient care is often overlooked. Jan Blustein professor of health policy and medicine at New York University, and who has also experienced the affects of hearing loss, joins us to explain what that's like, and gives some...

In a new analysis John McArthur and Krista Rasmussen, from the Global Economy and Development Program at the Brookings Institution, and Gavin Yamey from Duke University, have set out to analyse the potential for lives saved by the goals set in the Sustainable Development Goals In this conversation I talked to Gavin and John about the numbers,...

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...

Dyspareunia is a common but poorly understood problem affecting around 7.5% of sexually active women. It is an important and neglected area of female health, associated with substantial morbidity and distress. Women may be seen by several clinicians before a diagnosis is reached, There are also specialist psychosexual clinics, where men and women...

Brits have a reputation as Europe’s boozers - and for good reason, with alcohol consumption higher than much of the rest of the continent. That reputation is extended to our young people too - but is it still deserved? Joanna Inchley, senior research fellow at the University of St Andrews, explains new research on decreasing drinking -...

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,...

Until recently, The BMJ had a campaign of patient partnership - now we have a patient and public partnership campaign. The reason for that change is that medicine has an effect beyond the individual being treated - and this podcast interview is a very good example of that. Anya De Iong, patient editor for The BMJ, talks to Christine Morgan -...

Jönköping has been at the centre of the healthcare quality improvement movement for years - but how did a forested region of Sweden, situated between it's main cities, come to embrace the philosophy of improvement so fervently? Goran Henriks, chief executive of learning and innovation at Qulturum in Jönköping joins us to explain. He also tells...

More doctors are choosing to retire early, doctors who take career breaks find it hard to return to practice, and doctors at all stages of their careers are frustrated by the lack of support given to training and development in today’s NHS. Each year the BMJ holds a roundtable discussion at the Nuffield Summit - where health leaders come...

Looking after a young child is hard enough, but when that child has learning difficulties and displays challenging behaviour - the burden on parents can be extreme. That behaviour may prompt a visit to the doctor, and in this podcast we’re talking about how parents can be supported in that - what services are available. We’ll also be discussing...

This month we have some more feedback from our listeners (2.20) Carl says it's time to start smoking cessation (or stop the reduction in funding for smoking reduction) (11.40) and marvels at how pretty Richard Doll's seminal smoking paper is. It's gloves off for infection control (22.20) Andrew George, a non-executive director of the Health...

Fertility awareness based methods of contraception are increasingly being used for pregnancy prevention. In the US, the proportion of contraceptive users who choose such methods has grown from 1% in 2008 to approximately 3% in 2014.  Relative to other methods of pregnancy prevention, however, substantial misinformation exists around fertility...

Around half of trials that supported new cancer drug approvals in Europe between 2014 and 2016 were judged to be at high risk of bias, in a new study. Huseyin Naci,assistant professor of health policy a the London School of Economics joins us to talk about why potential bias may mean potential exaggeration of treatment effects, and could be...

Blockchain is the digital technology that underpins cryptocurrencies such as bitcoin, and has been proposed as the digital panacea of our times. But Leeza Osipenko, from the London School of Economics, has thought about how it could actually be used in clinical trials, and what else would need to change in our regulatory environment to make that...

A UK general election has been called - polling day is on the 12th of December, and from now until then we’re going to be bringing you a weekly election-themed podcast. We want to help you make sense of the promises and pledges, claims and counter-claims, that are being made around healthcare and the NHS out on the campaign trail. This week...

In October 2019, Mary Dixon-Woods, director of the THIS Institute, dedicated to healthcare improvement. In that she explained how she believed healthcare improvement could be improved. The essay took the position that "Quality Improvement" isn't necessarily the best way to improve healthcare, and that more rigour needs to be brought to the field....

We know that the number of people living with multiple health conditions is rising year on year, and yet training, guidelines, organisations and physical spaces in healthcare still largely focus on single diseases or organ systems. The means that patients in the NHS are often treated as if their conditions exist in isolation, and that their care...

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...

We’ve published info on Telehealth in primary care - and have been overwhelmed by the response from GPs who are finding it useful. But it’s not only primary care that is dramatically shifting to remote care - routine hospital care is moving online too, so we’ve asked Rowena McCash - GP and out of hours triage trainer joins us to give some tips...

For the next few months Talk Evidence is going to focus on the new corona virus pandemic. There is an enormous amount of uncertainty about the disease, what the symptoms are, fatality rate, treatment options, things we shouldn't be doing. We're going to try to get away from the headlines and talk about what we need to know - to hopefully give...

For the next few months Talk Evidence is going to focus on the new corona virus pandemic. There is an enormous amount of uncertainty about the disease, what the symptoms are, fatality rate, treatment options, things we shouldn't be doing. We're going to try to get away from the headlines and talk about what we need to know - to hopefully give you...

Marc Prentki
Mar 1, 1996; 45:273-283
Original Article

G Perseghin
Aug 1, 1999; 48:1600-1606
Articles

D A Pan
Jun 1, 1997; 46:983-988
Original Article

Lipodystrophies are a group of disorders characterized by absence or loss of adipose tissue and abnormal fat distribution, commonly accompanied by metabolic dysregulation. Although considered rare disorders, their prevalence in the general population is not well understood. We aimed to evaluate the clinical and genetic prevalence of lipodystrophy disorders in a large clinical care cohort. We interrogated the electronic health record (EHR) information of >1.3 million adults from the Geisinger Health System for lipodystrophy diagnostic codes. We estimate a clinical prevalence of disease of 1 in 20,000 individuals. We performed genetic analyses in individuals with available genomic data to identify variants associated with inherited lipodystrophies and examined their EHR for comorbidities associated with lipodystrophy. We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy. Four had a clinical diagnosis of lipodystrophy, whereas the remaining had no documented clinical diagnosis despite having accompanying metabolic abnormalities. We observed a lipodystrophy-associated variant carrier frequency of 1 in 3,082 individuals in our cohort with substantial burden of metabolic dysregulation. We estimate a genetic prevalence of disease of ~1 in 7,000 in the general population. Partial lipodystrophy is an underdiagnosed condition. and its prevalence, as defined molecularly, is higher than previously reported. Genetically guided stratification of patients with common metabolic disorders, like diabetes and dyslipidemia, is an important step toward precision medicine.

Most replicated genetic determinants for type 1 diabetes are common (minor allele frequency [MAF] >5%). We aimed to identify novel rare or low-frequency (MAF <5%) single nucleotide polymorphisms with large effects on risk of type 1 diabetes. We undertook deep imputation of genotyped data followed by genome-wide association testing and meta-analysis of 9,358 type 1 diabetes case and 15,705 control subjects from 12 European cohorts. Candidate variants were replicated in a separate cohort of 4,329 case and 9,543 control subjects. Our meta-analysis identified 27 independent variants outside the MHC, among which 3 were novel and had MAF <5%. Three of these variants replicated with P_replication < 0.05 and P_combined < P_discovery. In silico analysis prioritized a rare variant at 2q24.3 (rs60587303 [C], MAF 0.5%) within the first intron of STK39, with an effect size comparable with those of common variants in the INS and PTPN22 loci (combined [from the discovery and replication cohorts] estimate of odds ratio [OR_combined] 1.97, 95% CI 1.58–2.47, P_combined = 2.9 x 10^–9). Pharmacological inhibition of Stk39 activity in primary murine T cells augmented effector responses through enhancement of interleukin 2 signaling. These findings provide insight into the genetic architecture of type 1 diabetes and have identified rare variants having a large effect on disease risk.

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...

Scores of people who turned up yesterday at the Pavilion Mall to collect their government-issued compassionate grants at Western Union made a mockery of physical distancing as they converge on the financial institution. There were long lines...