Genetic basis of lazy eyes uncovered

Genetic basis of lazy eyes uncovered

The underlying gene responsible for crossed or lazy eyes has been discovered.

The condition, scientifically known as strabismus, affects 1 in 20 children and typically the first symptoms will be seen between the ages of 1 and 4. Whilst it had previously been observed to run in families the genetic factors responsible were unknown until now.

The research, carried out by an international team including scientists from Harvard, identified the faulty gene TUBB3. This gene codes for the important cellular component tubulin in nerve cells. This is essential for maintaining nerve axons and ensuring accurate transport.

The study took 15 years and looked specifically at the congenital occurrence of strabismus in a family from Victoria. “We looked at about 50 members of the family (and) about 25 of them were affected in different ways. Some of them had both eyes turning, for others it was one side,” said Dr John Ruddle, a research fellow at the University of Melbourne Centre for Eye Research Australia, and one of the lead scientists in the project.

The family members in the study portrayed particularly strong indications of hereditary strabismus. However, this is not the most common form of the condition. It is hoped that the research will help understanding of non-congenital strabismus progress. There are many theories as to what may cause “simple strabismus” including viral infection and deficiencies in eye sight. “The discovery was important because it has helped build understanding of the development of the nerves that control eye,” said Dr Ruddle.

The current recommended treatments range from wearing an eye patch to corrective surgery.  The former highlights the emotional and social distress that the condition can cause for a sufferer, whilst with the later there are risks and complications associated with the surgery.

The research also identified that other problems in the developing brain may have a link to the same defective gene. This includes intellectual and behavioural impairments and facial paralysis, the researchers have term the spectrum of disorders TUBB3 syndromes.


And the Oscar goes to…Science!?

And the Oscar goes to…Science!?

"I'd just like to thank my project supervisor..."

Hollywood has never had a particularly good reputation for scientific accuracy. However, recently its science acumen has received a boost. It is currently the first time that the ‘reigning’ best actor and actress have been both been scientifically published.

Colin Firth, has taken time out from swimming in country lakes and stuttering to co-author a paper in Current Biology. The research looked into whether there are any structural differences in the brains of young adults with different political affiliations.

His co-Oscar winner Natalie Portman has been published twice. Credited as Natalie Hershlag, her family name, she published a paper on sugar chemistry whilst in high school and another entitled “Frontal Lobe Activation during Object Permanence: Data from Near-Infrared Spectroscopy” whilst completing her psychology degree at Harvard.

Figure 1. Individual Differences in Political Attitudes and Brain Structure

Both also seem to have made valuable contributions to scientific knowledge with their research. Firth’s paper showed that “Liberalism was associated with the gray matter volume of anterior cingulate cortex” and that “Conservatism was associated with increased right amygdala size” as can been seen in Figure 1.

The question of whether or not it is psychological or environmental factors that influence political stance has been debated for many years. The findings of the paper side with recent studies in twins which claims that “a substantial amount” of political opinion is influenced by genetics.

The neuroscience paper published by Natalie Portman looked into the progress of ‘object permanence’ in child development. Object permanence is the understanding that objects continue to exist even when they cannot be seen, heard, or touched. Her research used near-infrared spectroscopy to monitor the levels of oxy and deoxyhaemoglobin. The research revealed that the rise in object permanence occurs simultaneously to a rise in the levels of haemoglobin concentration in the frontal cortex.

Whilst, these two members of the Hollywood A-list have dabbled in a bit of science it seems that they aren’t going to give up on their day jobs. Portman most recently graced our screens in the decidedly unscientific Thor, whilst Colin Firth was most recently seen in the tense spy film “Tinker, Tailor, Soldier, Spy”.

Reiki is practiced in an NHS breast cancer ward

Reiki is practiced in an NHS breast cancer ward

 

Reiki treatment involves no physical contact

In the foothills of Mount Kurama a man meditates. He has been there for 21 days. Suddenly, he has a revelation.

From this quiet beginning in 1922 the practice of reiki was born. Since then, it has evolved and found itself keeping company with treatments such as homeopathy and acupuncture in modern complementary medicine. The practice of reiki involves the practitioner transferring healing energy, or ‘ki’, to the subject through their palms. Those who support the treatments claim that this can help a wide range of conditions, including depression and anxiety as well as improving immunity. Contrary to these claims, reiki and other complementary medicines have been widely studied and the scientific consensus is that they have minimal, if any, clinical benefits. Despite this, reiki and its allied medicines are, shockingly, still afforded a place in the medical treatment establishment.

This acceptance of alternative medicine can be seen specifically at The Princess Alexandra Hospital NHS Trust, Essex, where they employ a “Reiki Therapist/Spiritual Healer”  in a breast cancer ward. The position is funded by an alternative medicine charity, but its location within an NHS hospital has drawn criticism. Professor Edzard Ernst, the world’s first, and only, professor of complementary medicine said, “We have published a systematic review of reiki…the evidence is simply not there. There are a number of studies, they are flimsy and the ones that are rigorous don’t generate a positive result. In my book the evidence is even negative,” he added.

The way in which this post has been advertised raises some serious questions about the medical validity of the job. The criteria state that the practitioner must “demonstrate the benefit and activity of the post”. Philippa Dooher, Lead Breast Care Specialist Nurse and supervisor of the position, outlined how this is judged: “Before and after treatment the practitioner engages in a core evaluation of how the patient is feeling. There is also the option for patient feedback.”   Considering the analysis of medical benefits of the treatment, she admitted that the success of the post is “not based on the effect on prognosis”. This stance is problematic according to Professor Ernst who described the attempts to justify the job as “ridiculously funny”.

Thankfully, it appears that this practice is not common in the NHS. Professor Ernst commented that the post seemed “exceptional”. But, he went on to add that outside of the National Health Service “…the use of alternative medicine in Britain is fairly widespread. About 20% of the general population use these treatments; with cancer patients the percentage is much higher.”   Dooher agreed with this, saying that the only alternative practitioners in the hospital were the reiki therapist, and a reflexologist on the same breast cancer ward.

The role in the hospital has been occupied for a year. The way through which patients are recruited to the scheme is another interesting addition to this tale. As well as being given forms to apply for treatment, the patients are approached in the waiting room and offered reiki by the practitioner themselves.

It seems highly illogical that an institution that should make decisions based on evidence and critical observation offers this therapy on an oncology ward. This is a view also expressed by Professor Ernst, who said that it is “Truly, truly embarrassing that an NHS trust should advertise for a reiki healer … [the position] discloses a total lack of critical regard to what they are doing, and I think it’s ridiculous, dangerous, and undermines everything that evidence based medicine and rationality stands for.”

Whilst the creation of reiki in the mountainous regions of Japan may be a nice story, it is disconcerting that almost one hundred years later “spiritual healing energy” can still be found within the NHS. 

Update

This article was inspired by a job advertisement posted by the PAH Trust, upon discussion it was revealed that the post had been filled for a year and since my conversation with the hospital the advertisement has been removed from their website.

ResearchBlogging.org

Lee MS, Pittler MH, & Ernst E (2008). Effects of reiki in clinical practice: a systematic review of randomised clinical trials. International journal of clinical practice, 62 (6), 947-54 PMID: 18410352

New Research Idicates How OCD Behaviours Are Formed

New Research Idicates How OCD Behaviours Are Formed

Obsessive compulsive disorder (OCD) is a debilitating condition affecting millions everyday. It is estimated that, in the UK, 2% of people aged between 18 and 56 suffer from some form of obsessive compulsive behaviour. Despite this widespread occurrence, however, there is much we do not know about the condition.

Historically, OCD has been dismissed as having no physiological cause, but scientists have shown that there are underlying biological factors in the condition. Functional magnetic resonance imaging studies have shown that the ventromedial prefrontal cortex, normally responsible for goal-based decisions, is implicated in the condition. Neurologists have also suggested several other areas play a role.

But how these physiological deficits manifest themselves is only just beginning to be understood. A recent study carried out in the Department of Experimental Psychology at Cambridge University indicates that the compulsions are due to overactive habit forming mechanisms.

Clair Gillan, a lead researcher in the study, said: ‘The goal was to look at the habit hypothesis of OCD, to see if [sufferers] had a greater predisposition to habit formation than control subjects’. The researchers were able to analyse this by comparing the abilities of control and OCD participants. Each subject was trained to use a computer programme to gain points by clicking on the correct boxes of fruit that appeared on screen. The fruits that gained the participants points were then changed. The OCD patients showed they were significantly less able than the controls to change the habit they had learned. They did not achieve their goals as successfully and thus gained fewer points. One participant, ‘Mr J’ (a severe OCD sufferer), commented that when he saw the fruits it was as if his ‘hands knew what to do’ and followed the earlier training goals, not the newer goals.

There are several different techniques currently used to treat OCD. These include the drastic (such as surgery), the experimental (such as psychedelic drugs) and the psychological (such as behavioural therapy). ‘I think it’s a very important validation of cognitive behavioural therapy’ said Gillan commenting on her study. She highlighted in particular the ‘exposure and response prevention technique’, also known as Pavlovian extinction. Patients undergoing this therapy are exposed to their feared situation.

Whilst our knowledge of OCD has no doubt improved, there is still much to discover.

ResearchBlogging.org
Gillan CM, Papmeyer M, Morein-Zamir S, Sahakian BJ, Fineberg NA, Robbins TW, & de Wit S (2011). Disruption in the Balance Between Goal-Directed Behavior and Habit Learning in Obsessive-Compulsive Disorder. The American journal of psychiatry PMID: 21572165

EU clamps down on dangerous herbal treatments

EU clamps down on dangerous herbal treatments

A recent ruling by the European Union prohibiting the sale of potentially dangerous herbal medicines has come into effect.

The new criteria state that producers of herbal treatments must provide documentation proving the product is not harmful. They must also give evidence to show that it has been used safely for a minimum of 30 years, with 15 of those being within the boundaries of the EU.

This has been lauded as an important step forward by many scientists and doctors with Richard Woodfield of the Medicines and Healthcare products Regulatory Agency (MHRA) saying “…the registration scheme puts consumers in the driving seat so they can identify that a product meets assured standards on safety, quality and information about safe use.”

However, some feel as though it does not go far enough as it does not impose any regulation or sanctions on homeopathy. Others are critical of different elements of the ruling. Sir David King , chief science adviser to the Royal Pharmaceutical Society said, “They certainly haven’t been tested on the same basis as a conventional medicine and some of these compounds are very potent…we’re very concerned that patients appreciate they must be very careful when they take these medicines.” 

Many herbal practitioners have complained about these rules. However, the transition period has been 7 years (described as ‘exceptionally long’ by the European Regulatory Agency), meaning that practitioners and patients have had plenty of time to investigate and plan for alternatives should their choice herbal products not make the cut.

This is a vital development in drug regulation. As although there are traditional medicines which have led to successful treatments, such as the anti-malarial drug Quinine, there have also been several documented cases of contaminated and misused herbal medicine causing fatalities.  

Scientists show you can’t get drunk by placing your feet in Vodka

Scientists show you can’t get drunk by placing your feet in Vodka

Time to give up on that Jameson Jacuzzi...

This post was chosen as an Editor's Selection for ResearchBlogging.org

Scientists have tested the old Danish myth that it is possible to get drunk by submerging your feet in alcohol. Their results, indicate that unfortunately a Fosters footbath is unlikely to become the new way to consume your drinks.

Figure 1: The data on the participants

The selfless scientists from the Department of Cardiology at Hillerød Hospital became the test subjects (Figure 1), declaring themselves ‘free of chronic skin and liver disease and non-dependent on alcohol and psychoactive drugs’. The really interesting thing about this study, besides the just plain weirdness of the question being asked, is the methodology. The researchers abstained from alcohol for 24 Hrs prior to the study and also each cleaned their feet with a loofah the night before testing began.

In the study itself the researchers submerged their feet in washing bowls containing three 700mL bottles of vodka (37.5% by volume). They then recorded the level of drunkenness using the concentration of plasma ethanol and a more interesting secondary outcome for 3 hours ‘a timeframe corresponding to a medium length visit to the local pub’.  This method contains my Research Quote of The Week:

The secondary outcome was self assessment of intoxication related symptoms (self-confidence, urge to speak, and number of spontaneous hugs)”

Figure 2: Self assessed intoxication related symptoms

The results of the blood plasma ethanol levels were all below the detection limit of 2.2 mmol/L and the secondary outcome results (Figure 2) were deemed not significant. Although they did observe that after the experiment the skin on the researchers feet was ‘clean and smooth’.

This study obviously does have its weaknesses. There was no control group, only 3 participants and clearly isn’t the most revolutionary discovery science has ever made. But, I do think this research is important, if only because it shows that scientists aren’t stuffy and boring and that they do have a sense of humour. A point highlighted by the conclusion to their paper:

‘New pastimes, such as “eyeball drinking,” have emerged. The significance of this activity is unknown. Rumour has it that it makes you drunk fast . . . and may damage your eyes’

ResearchBlogging.org

Hansen CS, Faerch LH, & Kristensen PL (2010). Testing the validity of the Danish urban myth that alcohol can be absorbed through feet: open labelled self experimental study. BMJ (Clinical research ed.), 341 PMID: 21156749

ScIPhone: Science in the world of Apps

ScIPhone: Science in the world of Apps

Science is everywhere, nowhere more so that the smartphone arena. But along with the high-tech that makes up the devices, science has also invaded the App market. Whether it be the, pseudoscientific apps which tell you when you are going to die or apps for peer-reviewed research. In this post I will review some of the science Apps that are out there:

NEJM Image Challenge (download here)

It is an interesting App idea, showing pictures medical conditions and then quizzing you on what it could be. It made me feel a little bit like I was House and I can see the app being useful for med students (I was rubbish at it!). However, there was one slight draw back to the app, when you are on the tube you don’t particularly want a big photo of deformed or diseased genitalia appearing on your phone…it tends to make people look at you like you are a crazy person!

Pros: Scientifically accurate and informative

Cons: Very difficult without a trained medical background, costs money, awkward commuting experiences.

Physics Box

This is an App claiming to contain a series of physics games. In one game “Ragdoll Shooter” you fire manikins at a target and the other you fire bombs. The physics claim is only due to them using a physics engine to power the dolls movements. The ragdoll game is quite fun, but there is really no difference between it and the bomb game.

Pros: Quite fun, free

Cons: No actual science, no variation in Game play

Merk – PSE HD (download here)

This is a periodic table app made by Merk pharmaceuticals. It looks very nice and polished and by clicking on the elements it contains lots more information about them.

Pros: Very informative, scientifically accurate.

Cons: Doesn’t do anything extraordinary with the app format

Genetic Code (download here)

Now this may be quite a geeky admission but I think this is a very cool little app. It let’s you enter three DNA bases and it will tell you what it codes for. I imagine this would be pretty useful for researchers.

Pros: Free, science geek novelty factor, could be useful for actual research.

Cons: Little practical use for most people.

So there we have a quick sample I am aware that there are many more science apps out there. If you have any good suggestions for apps to be reviewed drop me a comment below. This potentially may become a regular feature.