Patients with the most severe form of the immune condition Wiskott Aldrich Syndrome have been successfully treated using gene therapy at GOSH.

The treatment meant that the children went from spending an average of 25 days in hospital in the two years prior to gene therapy to no days in the hospital in the two years after the treatment. It also allowed for one child who was confined to a wheelchair to return to normal physical activities without the use of the chair.

Wiskott Aldrich Syndrome (WAS) is a genetic condition that affects between one and 10 children in every million worldwide and reduces their ability to fight infection. Symptoms can include bleeding episodes, eczema and other recurrent skin infections, and autoimmune disease although there is a broad spectrum of severity within the disease with some children being more affected than others. The most severely affected children often need to spend time in hospital.

The condition can very successfully be treated by giving children a bone marrow transplant where faulty immune cells are replaced by working donor cells, although this relies on donors being a good match for patients. Without transplantation, patients with WAS often don

Armed with new knowledge about how neurodegenerative diseases alter brain structures, increasing numbers of neurologists, psychiatrists and other clinicians are adopting quantitative brain imaging as a tool to measure and help manage cognitive declines in patients. These imaging findings can help spur beneficial lifestyle changes in patients to reduce risk for Alzheimer’s disease.

The concept that cognitive decline can be identified early and prevented by applying quantitative brain imaging techniques is the focus of a recent review. Author Cyrus Raji, M.D., Ph.D., of UCLA and an international team suggest a framework in which neuroradiologists work as part of a team of clinical neuroscientists (neurologists, psychiatrists, neuropsychologists, etc.) to apply quantitative neuroradiology towards prevention of cognitive decline in populations at high risk for dementia — namely those with lifestyle, genetic, and other associated risk factors.

‘I believe neuroradiology, and especially quantitative MRI technology, will have a huge impact in the future of diagnosis and treatment of Alzheimer’s disease, since there is compelling evidence for the baseline size of hippocampus as a key determinant of risk for future cognitive decline, and since many lifestyle factors can cause atrophy or expansion in the volume of this critical brain structure,’ says neurologist Majid Fotuhi, M.D., Ph.D., of Johns Hopkins University.

Such work is already happening at UCLA and other institutions that meld these approaches into novel ways to improve patient care. ‘We are working closely with neuroradiologists to redefine how we can reduce risk for Alzheimer’s with quantitative neuroimaging that helps us pinpoint symptom-relevant volume loss in the brain and subsequent targets for tracking our lifestyle-based interventions,’ says Dr. David Merrill, a geriatric psychiatrist at UCLA Medical Center.

‘Recent advances have improved the ability to characterize imaging markers along the trajectory of Alzheimers disease, starting in the pre-clinical phase. These markers, including structural, functional, and molecular imaging are being used in the AD diagnositc criteria, ‘ says Howard Aizenstein, M.D., Ph.D., a psychiatrist at University of Pittsburgh.

Fotuhi sees imaging findings as a unique motivator for patients to make positive lifestyle changes. ‘Patients seem to enjoy reviewing results of their imaging studies, more so than reading the results of their blood tests or other clinical evaluations. For example, they can see with their own eyes whether there are any strokes or atrophy in their brain. This can have a powerful impact on them and on their determination to make changes in their lifestyle in order to improve their brain health,’ he adds.

Among the lifestyle and risk factors that can be altered to potentially prevent cognitive declines are obesity, diet, sleep, hypertension, diabetes, depression, supplementation, smoking and physical activity. It is estimated that as many as 3 million cases of Alzheimer’s dementia worldwide can be prevented with as little as a 10% reduction in the burden of preventable lifestyle. EurekAlert

Paediatric surgery can be traumatic for children – and their parents. To guide families through the experience, Dr. Zeev Kain, chair of UC Irvine’s Department of Anesthesiology & Perioperative Care, is creating a unique Internet site to help parents ease children’s anxiety (and their own), properly manage postsurgical pain and, ultimately, facilitate healing.

The Web-based Tailored Intervention Preparation for Surgery (WebTIPS) site will address one of the most pressing needs in paediatric surgical care. About 60 percent of the 5 million children who undergo surgery in the U.S. each year develop extreme anxiety beforehand and suffer from unnecessary pain afterward.

An existing anti-stroke drug is an effective treatment for middle-ear infections, showing the ability to suppress mucus overproduction, improve bacterial clearance and reduce hearing loss, according to researchers at Georgia State University and the University of Rochester.

The findings could result in a novel, non-antibiotic treatment for otitis media, or middle-ear infection, possibly through topical drug delivery. Vinpocetine, the drug involved in the study, has long been used to treat neurological disorders such as stroke.

The study found topical administration of Vinpocetine suppressed inflammation and the overproduction of mucus induced by Streptococcus pneumonia bacteria, improved hearing loss in the middle ear and significantly improved bacterial clearance in animal studies.