Supporting orphaned children in Africa: Stop AIDS Now

I was fortunate enough this week to stumble across a most remarkable event whilst walking through the streets of Amsterdam.

Amsterdam is many things to many people but to me it is a constant source of surprise and amazement, mainly because of it's window on the raw humanity of our world and also to the shear creativeness of our species.

I was walking towards Amsterdam's Nieuwmarkt, the open market space that spreads out in front of one of the ancient gates known as De Waag, which was once the Gestapo HQ for the German Occupying forces during WWII,

On most weekends this square, or 'plein,' can be occupied by street traders, rowdy tourists and the odd street performer but on this occasion it was occupied by strings of large cardboard dolls house.

Each one had been printed as a large cardboard 'cutout', in the manner of a children's toy and had been folded and constructed into the form of a doll's house. Individually they stood 5' tall.

This in itself was a creative and amazing piece of art but in addition to this the organisors, Stop AIDS Now (Holland), had arranged this assemblage of, possibly 100+ dolls' houses, into the form of a crossed ribbon. Almost filling the entire square with them.

The positioning of each doll's house was precisely placed as was the location of the event because not more than a stones-throw away is Amsterdam's Red light district.

To advertise the event the organisers had arranged for some Dutch celebrities to act as ambassadors, Angela Groothuizen en Nicolette Kluijver, to pose for photographs and to be interviewed by Dutch TV channels. An excellent event, well publicised.

I took the liberty, for you my readers, to climb the official photographer's platform to capture a few photographs, to better record the event and to experience the layout in it's entirety.

The organiser's representatives were too busy speaking to the TV crews and celebrities to be able to discuss the event with me, at this point. So, I continued on my way and returned later when things were quieter.

I was told that Stop AIDS Now had devised this campaign to highlight the plight of children in Africa who had become orphaned by AIDS, and that these children were now struggling to raise their siblings, unaided, acting as a substitute parent.

They very kindly gave me a small version of the cardboard cutout doll's house, which acts as a collection box. This is shown below.

These small cardboard versions are available from Stop Aids Now's Dutch website but feel free to print out the picture below and construct it from cardboard. Any money you collect will be put to good use.

I hope, when you look at it, it will remind you of the children in this world who have been denied a full and enjoyable childhood by circumstances beyond their control and of the blight that AIDS has brought to all humanity.

Scientists discover gene which causes FGD, rare disease in babies

A rare disease which often first presents in newborn babies has been traced to a novel genetic defect, scientists at Queen Mary, University of London have found.

 

The research, published online in Nature Genetics (27 May) discovered 20 distinct mutations in a specific gene found in patients with the rare adrenal disease, Familial Glucocorticoid Deficiency (FGD).

The potentially fatal disease means affected children are unable to produce a hormone called cortisol which is essential for the body to cope with stress.

Lead researcher Dr Lou Metherell*, endocrine geneticist at Queen Mary, University of London, said: "People who inherit this disease are unable to cope with physical stress.

For example, the normal response to infection or traumatic injury is to produce cortisol supporting the metabolic response to the event. Patients with FGD cannot do this and may die if untreated.

"We found 20 distinct defects in the antioxidant gene nicotinamide nucleotide transhydogenase (NNT) in patients from all over the world who suffer from FGD."

The researchers, which include Eirini Meimaridou and Professor Adrian Clark, also at Queen Mary in the William Harvey Research Institute, had previously found defects in four genes present in this disease.

The new research uncovered mutations in NNT, an antioxidant gene, which provides a new mechanism for this adrenal disease.

"Patients with this form of FGD exhibit oxidative stress (OS) in the adrenal, a process which is involved in other diseases such as neurodegenerative conditions, cancer, stroke, diabetes and cardiac dysfunction," Professor Clark said.

"If we can discover how the OS causes its effect then this might give us clues to the mechanism in other diseases like those listed above and it may then be possible to use appropriate drugs to reduce or prevent it."

More information: "Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency" was published online in Nature Genetics on 27 May 2012.

Journal reference: Nature Genetics

Provided by Queen Mary, University of London

Nintendo Wii™ game controllers help diagnose eye disorder (ocular torticollis)

Nintendo Wii remotes are not all about fun and games.

Scientists can use them to assess and diagnose children with an abnormal head position caused by (ocular torticollis) eye diseases.

As described in a recent Investigative Ophthalmology & Visual Science article, researchers developed a low-cost digital head posture measuring device with Nintendo Wiimotes to help diagnose this condition, medically called ocular torticollis.

"Torticollis occurs in about 1.3% of children," said author, Jeong-Min Hwang, MD, of Seoul National University College of Medicine.

"Accurate measurement of the angle of the abnormal head position is crucial for evaluating disease progression and determining treatment or surgical plans in parties with ocular torticollis."

Hwang and his colleagues point out that in clinical practice where it can be difficult to get reliable data from children whose heads move constantly, a digital head posture measuring systems using electronic devices such as the motion tracking capability offered by Wiimotes would be an ideal alternative.

Below is an old (2008) YouTube video which helps to demonstrate the Wii head tracking technique.

The researchers used two Wii controllers to develop an infrared optical head tracker (IOHT) that automatically measures and records the angle of the head in real-time.

The remotes were connected to a monitoring computer with an infrared camera and Bluetooth connectivity.

The IOHT was evaluated for accuracy, validity and reliability by comparing it with the 'Cervical Range of Motion Instrument' or CROM device, one of the most widely used head posture measuring devices in hospitals.

Results demonstrated that in measuring the head posture of normal adult subjects, the measurement of the one-dimensional and three-dimensional (3-D) positions of a human head with IOHT were very close to those of CROM.

There were slightly more deviations of measurements between IOHT and CROM than the researchers expected in 3-D movement of the head, which the researchers contribute to the structural nature of CROM rather than inaccurate measurement of IOHT.

In looking at the future, the research team hopes this new tool will play a key role in diagnosing ophthalmic patients. "Considering its high performance, ease of use and low cost, we believe IOHT has the potential to be widely used as a head posture measuring device in clinical practice."

Poor Maternal Diet Increases Risk of Diabetes in babies

A new study showed that individuals who were not properly nourished while in the womb have reduced ability to store fact correctly later in life, putting them at a higher risk of developing type 2 diabetes and other age-related diseases.

The findings could lead to new ways identifying people who are at a greater risk of developing these diseases, researchers said.

According to the team from the University of Cambridge and the Medical Research Council Toxicology Unit at the University of Leicester, the research showed that poor diet in the womb cause the individual's inability to store fats correctly as he matures.

Proper fat storage in the body is important, otherwise, these will be stored in the liver and muscle which could lead to diseases.

"One of the ways that our bodies cope with a rich modern western diet is by storing excess calories in fat cells.

When these cells aren't able to absorb the excess then fats get deposited in other places, like the liver, where they are much more dangerous and can lead to type 2 diabetes," said Professor Anne Willis of the MRC Toxicology Unit.

Researchers found that the process of storing excess calories in fat cells is controlled by a molecule called miR-483-3p, which produced at higher levels in individuals who had experienced a poor diet in their mother's wombs than those who were better nourished.

According to the team, miR-483-3p works by suppressing a protein called GDF3.

A study of a group of adult humans who were born with a low birth weight revealed that GDF3 protein was present at around only thirty percent of the levels found in people born at a normal

"It has been known for a while that your mother's diet during pregnancy plays an important role in your adult health, but the mechanisms in the body that underlie this aren't well understood.

We have shown in detail how one mechanism links poor maternal diet to diabetes and other diseases that develop as we age," according to Dr Susan Ozanne, a British Heart Foundation Senior Fellow, who led the work at the University of Cambridge.

"Improving people's diets and encouraging exercise is clearly the best way to combat the epidemic of diabetes and diet-related disease which is sweeping through our society.

However some people are at particular risk of these diseases, despite not looking visibly overweight.

This research will hopefully allow us to help these people to take precautionary steps to reduce their likelihood of developing type 2 diabetes," Professor Willis said.

The findings of the study was published in the journal Cell Death and Differentiation.