First patient in Europe receives treatment for rare genetic condition
APDS is a rare inherited disorder that significantly weakens the immune system, making patients vulnerable to recurrent infections; Mary's family has been severely impacted, with four members, including her mother, dying from the condition.
The new medicine, a simple tablet taken twice daily, is the first targeted treatment for APDS and works by inhibiting an overactive enzyme identified by Cambridge researchers in 2013.
Mary described the drug as "life-changing", allowing her to reduce extensive medication and look forward to a more normal life, including pursuing her dream of becoming a dance teacher.
Experts believe leniolisib will make a huge difference to APDS patients, with researchers now exploring its potential application for other, more common immune conditions.
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Times
31 minutes ago
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What to do now Mounjaro's hiking its prices, by an obesity expert
In disappointing news for doctors and patients across the UK, the weight-loss jab Mounjaro is the latest casualty of global politics. Last week Eli Lilly, the US-based manufacturer of the weight-loss jab, said it would be doubling its prices for UK pharmacies. The price jump comes a month after President Trump demanded that pharmaceutical businesses lower prices for American patients and stop other countries 'freeloading' off US firms. From September the rate for a middle-sized 5mg dose will nearly double, from £92 to £180. The maximum dose, 15mg, will increase from £122 to £330. While this won't have an affect on the NHS, it will for the 1.5 million people in the UK who are buying the drug privately from online services and high street pharmacies. So what will be the consequences of these price hikes and what should Mounjaro users do? My advice is that if you can find a way to stay on Mounjaro, then you should try to, if it has improved your life. It's a popular drug among private providers because they can prescribe it for weight management to a wider range of people who meet licensed BMI and health condition criteria. Most patients won't be on the full 15mg dose so, while prescriptions will still cost significantly more, most people will find the maximum price won't apply to them. The most likely reaction from patients will be to lower their dose to pay a smaller price. The consequences of that are simple: if you move to a lower dose, you may regain some weight, because the amount of the chemical that's suppressing your appetite will be less. What's important to remember is that your weight will not go anywhere near what it was when you first started the injections, and there will still be a considerable degree of appetite control. Switching to a potentially more affordable alternative such as Wegovy, which is produced by Novo Nordisk and will not be increasing prices (£100-£200 a month from private online pharmacies), will probably have a similar consequence to cutting the dosage, because it is not as potent. Research has found Mounjaro at the 15mg dose reduced body weight in people with obesity by just over 20 per cent, whereas Wegovy at its top dose of 2.4mg cut it by nearly 14 per cent, a similar level of weight achieved by 5mg of Mounjaro. • The weight-loss drugs guide: how to avoid the side effects Switching between weight-loss drugs isn't an entirely seamless process either. Before taking Wegovy (which is also sold as Ozempic for diabetes treatment), you would need to stop Mounjaro for five weeks and begin your new drug on a low dose. Weight gain is highly likely, but it should be relatively modest, given the short period off the medicines. Those who don't live with obesity may ask why people need medical intervention to lose weight in the first place, but drugs like Mounjaro are proven to improve health in myriad ways. In most cases, they contribute to sustainable weight loss, which improves a patient's relationship with food, cuts calorie consumption and improves many risk factors, including blood pressure and blood sugar and liver fat levels. It also makes you less likely to get diseases like type 2 diabetes and decreases the risk of having a heart attack or stroke. For those already living with heart failure and sleep apnoea, symptoms improve substantially. For those with osteoarthritis, weight-loss drugs can help to decrease knee pain by a third and if you have liver or kidney disease, its progression is slowed. While many headlines focus on possible side-effects such as nausea, these usually only last for the first few weeks and are often caused by the transition for some of going from eating a lot of calories to a much more modest number. The vast majority of people on weight-loss drugs are doing fine and enjoying better appetite control and reduced snacking. Weight loss usually plateaus at around one year to 18 months and, judging by the trials, average weight loss will be somewhere between 10 per cent and 25 per cent. • Weight-loss drugs herald new era of cancer prevention To some extent, the increased prices could have a positive effect. For those who lower their dose or make the transition to another brand, it may lead to deeper consideration of what else they can do to mitigate the consequences, like walking more or finding other activities they may enjoy. The truth is that we don't yet know what effect the higher prices will have, or how those buying private weight-loss medication will react. For professionals like me, it feels like we're about to embark on a big public health experiment, comparable to when the government increased the price of cigarettes. This time, though, in terms of health, price increases are taking us in the wrong direction. It's disappointing because so many people are doing well on Mounjaro. The wider context is that our food environment is not changing quickly enough and, until it does, more and more people are going to be living with obesity. For now, we have these new drugs in place to help and we want them to be cheaper, not more expensive. We want more people to benefit from them because, if we are to go by the studies we have so far, the health benefits substantially outweigh the worst thing is that the new prices make access to the drug even more difficult for the poorest people in society, and they are who need it the most. Sadly, the increased cost is another ramification of current global politics but if your health and quality of life were much improved on the medicine and you can save a bit of money elsewhere and maintain your Mounjaro prescription, the extra costs I would urge you to do so. Naveed Sattar is professor of metabolic medicine at the Institute of Cardiovascular and Medical Sciences at the University of Glasgow and an honorary consultant in metabolic medicine at the Glasgow Royal Infirmary. He has consulted for Eli Lilly and Novo Nordisk but has never held shares in any medical company
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Charity funds head and neck cancer patient support groups
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3 hours ago
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Urologist pinpoints intimate summer problem which could cause fertility to plummet
Men often joke that cold weather is to blame for a less-than-impressive bulge. But scorching summer heat might not be such a blessing either. Experts warn that 'summer long balls'—the effect of penises and testicles appearing larger and hanging lower in hot weather—could actually spell trouble for fertility. The effect, seen during last week's 33.6C heatwave in Britain, is the body's natural reaction to rising temperatures. Dr Anika Ackermann, a board-certified urologist, told The Cut: 'When it's a cold environment, the testicles move towards the body, and the scrotum tenses up. 'The opposite is true in a warm environment. The scrotum relaxes, and the testicles move away from the body.' This shifting is designed to protect sperm. The scrotum—or scrotal sac—acts like a thermostat, moving the testes closer to or further from the body to stop them overheating or getting too cold. While this temporary reaction can affect sperm production, experts stress it does not cause lasting damage to fertility. However, according to leading urologist Dr Yaniv Larish, this phenomenon can also be caused by varicoceles, or enlarged veins in the scrotum. 'When you have a varicocele, the blood is not moving around efficiently, so instead of circulating around the testicle and pulling the heat away, its pooling up and actually insulating the testicle at an elevated temperature,' he explained. According to John Hopkins Medicine, the condition is very common affecting around 15 percent of adult men. Whilst for most varicocele will go unnoticed, Dr Larish said the condition can become 'more pronounced' in warmer weather. This can cause a number of issues including reduced fertility, decreased testosterone and scrotal discomfort. But experts say, in the majority of cases, whilst the warm weather may cause fertility to plummet, negatively affecting sperm quality, the effects is usually temporary. However, in men with varicoceles, fertility could be an issue—though this is a vehemently contested theory. One purported theory is that varicoceles can interfere with the body's ability to make and store sperm but research on whether treating varicoceles cann improve fertility is mixed. Either way, whilst there is no hard and fast cure for 'summer long balls', experts say there are a few things you can do to reduce discomfort. Dr Ackerman recommends wearing tighter underwear for scrotal support and spending as much time in cooler environments as possible. And if you don't have an air-conditioned space to take refuge in, the urologist suggested investing in a pair of 'Nutsicles'—essentially an ice pack for testicles primarily marketed at vasectomy patients—to keep cool all summer long. The warning comes as research finds just a one degree increase in ambient temperature can lead to a drop in sperm production. The study, published recently in the journal Biomedical and Environmental Sciences and reported last week by the Daily Mail, analysed semen samples from more than 6,600 donors worldwide over a six-year period. On average, the mercury reached highs of between 6.7C (44F) and 18.2C (64.8F) across the nations sampled—with the highest being 42.1C (107.8F). And the results showed those living in hotter climes had less sperm motility—the ability of the cells to move effectively, which is crucial for successful fertilisation. Experts are calling for all men to be regularly monitoring their sperm from their late teens onwards in a bid to identify thousands of hidden cases of male infertility at an earlier stage. Research suggests male infertility is a factor in about half of all cases where couples fail to conceive. Yet many cases could be identified and potentially treated early if every man had a semen analysis when they turned 18 and again a couple of years later to monitor changes in sperm count and motility, argues Tet Yap, a consultant andrological surgeon at Guy's and St Thomas' NHS Foundation Trust and the private Princess Grace Hospital, both in London.
