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Artificial intelligence could diagnose dementia in a day

Brain scans powered by artificial intelligence may soon allow doctors to diagnose dementia in a single day, a new study suggests. 

Preliminary findings from pre-clinical trials run by the University of Cambridge show that a new algorithm is able to rapidly spot signs from a scan. 

Currently, a person is diagnosed with dementia only after several scans and consultations with experts and the process can take several months. 

Those involved in the work said being able to intervene earlier could help with efforts to slow the disease’s progression and ensure patients had more information on their situation at an earlier stage.

A formal trial is now being set up with around 500 patients at Addenbrooke’s hospital in Cambridge and other memory clinics across the country.

The AI compares brain scans of people who think they may have dementia with brain images of people who have already been diagnosed with the condition. An algorithm is used to detect subtle patterns in the scans that are often missed by even expert neurologists.

Zoe Kourtzi, professor of experimental psychology at the University of Cambridge, said early intervention was vital. She told the BBC: “If we intervene early, the treatments can kick in early and slow down the progression of the disease and at the same time avoid more damage.

“And it’s likely that symptoms occur much later in life or may never occur.”

Dr Timothy Rittman, a consultant neurologist at the University of Cambridge, told the BBC the AI system was a “fantastic development”.

He said: “These set of diseases are really devastating for people.

“So when I am delivering this information to a patient, anything I can do to be more confident about the diagnosis, to give them more information about the likely progression of the disease to help them plan their lives is a great thing to be able to do.”

More than 850,000 people in the UK are thought to have dementia, according to the NHS, with the condition affecting one in 14 people over the age of 65, and one in six people aged over 80.

Alzheimer’s Research UK said predictions from 2014 estimated that one million people in the UK will have dementia by 2025, doubling to two million by 2050.

Dr Laura Phipps, from the charity, said this latest work could help doctors have more confidence when looking at scans and diagnosing patients.

She said: “To diagnose dementia today, doctors need to rely on the interpretation of brain scans and cognitive tests, often over a period of time.

“Machine learning models such as those being developed by Prof Kourtzi could give doctors greater confidence in interpreting scans, leading to a more accurate diagnosis for patients.” 

Reference: The Telegraph: Joe Pinkstone 

Cystic fibrosis cure on horizon after scientists fix genetic mutation

A cure for cystic fibrosis is on the horizon after scientists corrected the genetic mutation that causes the condition in human cells.

Around one in 2,500 babies are born with the condition, which causes a build up of thick, sticky mucus in the body, blocking the lungs and digestive organs. It is caused by a faulty piece of DNA that fails to produce enough water to dilute the mucus.

Now scientists from the Hubrecht Institute, in the Netherlands, have shown that a healthy piece of DNA can be swapped for the defective code, allowing cells to function normally.

In mini-intestinal organs grown from human stem cells – known as organoids – the team showed that inserting the new DNA into the malfunctioning tissue caused the cells to plump up with extra fluid.

"The treated organoids demonstrated the same response as the healthy organoids – they became swollen," said Dr Maarten Geurts, first author on the study. "That provided us with proof that our technique worked and replaced the mutated DNA.

"We have, for the first time, demonstrated that this technique really works and can be safely applied in human stem cells to correct cystic fibrosis."

Cystic fibrosis is one of the most prevalent genetic diseases worldwide, and means patients must take a range of medications and undergo regular airway clearing treatments and exercises. 

Around 10,600 people in the UK suffer from the condition. According to the Cystic Fibrosis Trust, one person in 25 carries the faulty gene, usually without knowing, meaning two million people in Britain have the mutation. 

If two carriers have a child, it has a one in four chance of developing the condition, which can bring symptoms including a persistent cough, wheezing, breathing difficulties, repeated chest infections and lower life expectancy.

For the new research, the team used a technique called Prime Editing, which is a variation of the genetic snipping tool Crispr.

The new technique inserts genetic material without inadvertently causing damage elsewhere, so is less likely to bring unexpected problems. It was tested on mini-organs grown from the stem cells of patients with cystic fibrosis and compared to those grown from healthy cell lines.

The mutations that cause cystic fibrosis are found in a channel known as CFTR (cystic fibrosis transmembrane conductance regulator), which is present in the cells of various organs including the lungs. 

Due to the mutations, the channel does not function properly, leaving the layer of mucus that covers the cells with too little water and meaning that the mucus becomes sticky. 

The technique still needs to be adapted for safe use in humans, but researchers said it was a "big step forward" in applying genetic editing techniques in the clinic to cure devastating inherited disease.

"This will hopefully enable us to cure or even prevent genetic diseases in the future," said Dr Geurts. "New variants of Crispr, such as Prime Editing, can safely correct mutations without causing damage in other regions of the DNA." 

The study was published in Life Science Alliance.

DR ELLIE CANNON: Why are my ears bunged up with wax all the time?

I was diagnosed with neck cancer 20 years ago and had an operation to remove the tumour and lymph nodes and a course of radiotherapy. Ever since, I've had a problem with ear wax, especially on the side where my tumour was. What can I do?

Radiotherapy is very effective at obliterating cancers but it can come with long-term side effects.

Most commonly it can lead to skin problems in the area targeted and where moisture is produced, which is why it often leaves patients with an extremely dry mouth.

Ear wax is a mixture of dead skin cells, oils and dirt that normally shifts out of the ear when we move the jaw. A build-up of this in the ear canal is a well recognised complication of radiotherapy to the head and neck.

To remove excess wax, first use softening drops made from sodium bicarbonate or olive oil. For some, the drops alone – available at most chemists – are enough to allow the wax to pass out.

The second stage involves a healthcare professional clearing out any remaining wax using water irrigation or microsuction, which is like a tiny vacuum cleaner with a microscope.

You might have heard of ear syringing, but doctors don't use this technique because it risks damaging the ear drum.

We also don't tend to remove ear wax in GP surgeries any longer. Instead, many patients will be referred to a specialist ear, nose and throat clinic, or they can opt for services provided by high street opticians and pharmacists.

You can't stop ear wax from building up, but you can avoid making things worse by not using cotton buds and ear plugs, which just jam the wax in further.

Reference: Dr Ellie Cannon for The Mail on Sunday 

Val Kilmer still recovering from cancer battle

The 61-year-old star was diagnosed with throat cancer in 2017, after battling health issues for two years, and his children Jack and Mercedes admitted the recovery process is brutal.

Mercedes told Extra: "He’s doing well… Still recovering... The recovery process is just as grueling as the actual disease." 

Jack added: "Everyone has been so supportive; it makes me emotional. It’s really beautiful to see people come together."

The pair were speaking ahead of the launch of Val's new Amazon Prime documentary 'Val' about his life.

Mercedes said: "'He’s always had this need to document things… And then my dad got his diagnosis of cancer and they continued filming, and then they discovered they have this archive, and that’s how the film this film came about. But my dad’s been making this movie for 50 years.

“We definitely were aware, as we were the subject of a lot of it... most of it. We hadn’t seen a lot of it until this project began and so it was very exciting.”

Jack and Mercedes feature in the documentary, which examines Val's personal and professional life, and they loved looking at the home movie footage.

Jack said: "It’s emotional. It’s… it’s really fun," and Mercedes added: "We were cracking up [during] a lot of it."

Reference: Bang Showbiz  3