Research news in brief

Untethered proteins found in MKD

Researchers from the Garvan Institute of Medical Research in Sydney have shown that a family of untethered proteins builds up in the cells of children with a rare genetic condition, mevalonate kinase deficiency (MKD). Individuals with MKD experience repeated and frequent inflammatory febrile episodes that last for days and are accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. These febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome. The attacks usually begin in infancy and continue throughout an individual’s life, although they occur most frequently in children. The researchers investigated blood cells from people with MKD. They showed that, within the cells, several proteins from the same family (known as Rab proteins) had no isoprenoid tail – a molecule that is usually added to these proteins in the final stages of preparing them for their work in the cell. Much like a child holding the string of a balloon, an isoprenoid tail is thought to act as a molecular tether for the protein it is attached to. The isoprenoid tails on Rab proteins keep them close to the cell membrane. Without their tethers, the Rab proteins, and other related proteins, are loose in the cells of children with MKD, and are free to move into other parts of the cell. It is thought that this could set off the disease process in MKD, triggering inflammation. The researchers showed that untethered Rab proteins are found only in people in MKD. They are not present in the cells of people with other rare diseases that have similar clinical symptoms (the periodic fever syndromes) or in the parents of children with MKD. The findings, published the Journal of Allergy and Clinical Immunology, pinpoint a key feature of MKD that could be used to fast-track the diagnosis of the disease – a process that is often difficult and protracted.

Medicated people with ADHD crash their cars less

In a study of more than 2.3 million US patients with attention-deficit/hyperactivity disorder (ADHD), rates of motor vehicle crashes (MVCs) were lower when they had received their medication, according to research published in JAMA Psychiatry. ADHD affects 5–7% of children and adolescents, and for many people it persists into adulthood. Prior studies have suggested that people with ADHD are more likely to experience MVCs. Rates of ADHD medication prescribing have increased over the past decade in the US and in other countries. Researchers from the Karolinksa Institutet in Sweden identified participants from commercial health insurance claims and emergency department visits for MVCs. Analyses compared the risk of MVCs during months when patients received their medication with the risk of MVCs during months when they did not. Among the more than 2.3 million patients with ADHD (average age 32.5 years), 83.9% (more than 1.9 million) received at least one prescription for ADHD medication during the follow-up. There were 11 224 patients (0.5%) who had at least one emergency department visit for an MVC. Patients with ADHD had a higher risk of an MVC than a control group of people who didn’t have ADHD or ADHD medication use. The use of medication in patients with ADHD was associated with reduced risk for MVC in both male and female patients, according to the results.

Antiretroviral therapy gives HIV+ patients 10 more years

Life expectancy of 20-year-old patients starting treatment for HIV has increased by around a decade in the European Union and North America, since the introduction of antiretroviral therapy in the mid-1990s, according to research published in The Lancet HIV. The authors, from the University of Bristol in the UK, proposed that their findings could reduce stigmatisation and help people with HIV infection gain employment and obtain medical insurance, as well as encouraging diagnosed patients to start treatment as soon as possible and continue it fully. Their projections suggested that the life expectancy of a 20-year-old patient who began treatment from 2008 onwards and had a low viral load after a year of treatment may approach that of the general population (around 78 years). The study used data for 88 504 people with HIV infection who started antiretroviral treatment between 1996 and 2010 from 18 EU and North American studies. It tracked how many people died during the first 3 years of their treatment, their cause of death, HIV viral load, immune cell (CD4 cell) count and whether they were infected through injecting drugs. Fewer people who started treatment between 2008 and 2010 died during their first 3 years of treatment than those who started treatment between 1996 and 2007. When looking specifically at deaths due to AIDS, the number of deaths during treatment declined over time between 1996 and 2010, likely as a result of newer drugs being more effective in restoring the immune system. During this time, measures of HIV improved – with the average immune cell count (of CD4 cells in the blood) after a year of treatment increasing from 370 cells per microlitre of blood in 1996–1999 to 430 cells per microlitre of blood in 2008–2010, while the proportion of people with a low HIV viral load increased from 71% to 93%. Between 1996 and 2013, the life expectancy of 20-year-old patients treated for HIV infection increased by 9 years for women and 10 years for men in the EU and North America. Projections based on death rates in the second and third year of treatment for Europeans and North Americans estimated that 20-year-old patients starting therapy between 2008 and 2010 who survived the first year of treatment would live to 73 years for men and 76 years for women.

Smart exoskeleton stops seniors from falling

The first smart exoskeleton that recognises the loss of balance – and prevents falling – has been developed by Swiss and Italian researchers, according to an article published in Scientific Reports. The researchers have built the prototype of a smart, light-weight and easy-to-personalise exoskeleton that counteracts the loss of balance and promotes balance recovery after an accidental slip. The exoskeleton first detects the particularities of the patient’s walk. Once this pattern is established, the system’s algorithm is able to detect deviations from his normal gait, that is, the onset of a fall. When this happens, the motors push both of the thighs down, re-establishing the patient’s stability at the hip. The next steps involve making the exoskeleton more discreet and portable for the outside world, and to test its usability with end users in real-life environments.

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