Le disabilità intellettive sono spesso causate da difetti genetici. Un recente studio dell’Istituto di neuroscienze del Cnr di Milano, ha dimostrato che negli affetti dalla mutazione del gene TM4SF2, l’azione di una particolare molecola è in grado di migliorare l’attività cerebrale, favorendo il corretto transito cellulare del neurotrasmettitore glutammato. Il lavoro pubblicato su Cerebral Cortex

I disordini dello sviluppo intellettivo si manifestano durante i primi anni di vita, provocando deficit cognitivi nell’ambito della socializzazione e delle capacità pratiche. Le cause più frequenti legate all’insorgenza di queste patologie sono i disturbi genetici, tra cui, le mutazioni di geni localizzati sul cromosoma X, come quelle che riguardano il gene TM4SF2. Questo gene reca l’informazione necessaria per la produzione della proteina TSPAN7, in assenza della quale vengono alterati numerosi processi cellulari, provocando squilibri intellettivi nella popolazione degli affetti.

Birds who live next door to family members or to other birds they know well are physically healthier and age more slowly, according to new research from the University of East Anglia (UEA). The research, conducted in collaboration with colleagues at the universities of Leeds (UK) and Groningen (the Netherlands), is published today in the Proceedings of the National Academy of Sciences (PNAS). Much like humans, many wild animals ‘own’ a private piece of land, or territory, that they rigorously defend against intruders. Having good neighbours that respect the territory boundaries means less work and stress for territory owners – but are some neighbours better than others? Good neighbours come in two varieties. Firstly, when neighbours are extended family members, they share genes and therefore refrain from fighting over space or intruding into each other’s territories. Second, if neighbours know each other well, they should keep the peace and cooperate with each other in order to prevent new neighbours, with whom they must resettle all the rules regarding territory boundaries, from moving into the neighbourhood.

Eriksen Camilla Bruun. Foto: Syddansk Universitet

“The fat body carries a secret that has to be revealed at all costs; it is a living symptom that something has ‘gone wrong’,” says Camilla Bruun Eriksen. She has studied the representation of fat bodies in popular culture. The year 2004 is perhaps a point of departure. This year, the first season of Biggest Loser was broadcasted in the U.S. The programme shows a group of overweight people compete with each other over who will have the biggest weight loss within a couple of months. The following year, a Nordic version of the show, Slankekrigen,premiered on TVNorge with participants from Norway, Sweden and Denmark. Since then, the concept has continued with new seasons of Biggest Loser, and a constant flow of other reality shows revolving around weight loss.

Mr Inderjit Singh (right), Chairman of NTUitive, NTU’s innovation and enterprise arm, was given a showcase of Emma by Mr Albert Zhang (middle), Founder of AiTreat, and NTU PhD student Liu Kai (left).

 A robot masseuse has started work in Singapore today. Named Emma, short for Expert Manipulative Massage Automation, it specialises in back and knee massages as it mimics the human palm and thumb to replicate therapeutic massages such as shiatsu and physiotherapy. Emma started work on her first patients today at the NovaHealth Traditional Chinese Medicine (TCM) clinic, working alongside her human colleagues – a physician and a massage therapist. Emma 3.0 – the first to go into public service – is a third more compact than the first prototype unveiled last year, offers a wider range of massage programmes and provides a massage that is described by patients as almost indistinguishable from a professional masseuse. Emma uses advanced sensors to measure tendon and muscle stiffness, together with Artificial Intelligence and cloud-based computing to calculate the optimal massage and to track a patient’s recovery over a course of treatments. Emma is developed by AiTreat, a technology start-up company incubated at Nanyang Technological University, Singapore (NTU Singapore).

For many breast cancer patients, the complete or partial loss of their breasts after tumour removal is traumatising. “There is no need to worry because there are many methods of restoring breasts to ensure the integrity of the body and femininity. What is important is the early and precise planning of therapy and treatment at a special centre such as the MedUni Vienna and the Vienna General Hospital (AKH)," says Christine Radtke, Head of the Division of Plastic and Reconstructive Surgery at the MedUni Vienna/ Vienna General Hospital, member of the Comprehensive Cancer Center of MedUni Vienna/ Vienna General Hospital and expert for breast reconstruction, on the occasion of the Breast Cancer Awareness Month in October. Every year, 5,000 women come down with breast cancer in Austria. Surgical removal of the tumour is still one of the most important components of a successful therapy, but often results in the loss of breast tissue or makes complete removal of the breast necessary. Radtke would like to encourage the women concerned, because as long as there is no other life-threatening concomitant disease, there are almost no limits today when it comes to reconstructing the breast completely or partially.

Placental samples are collected after birth and stored at -80 celsius degrees (photo: P Lehtinen)

Researchers at the University of Helsinki, Finland, have found a genetic variation, which associates with the damage caused by maternal alcohol consumption. This genetic variation clarifies the role of genetic factors in the alcohol-induced developmental disorders and could be useful in future diagnostics. The effects of prenatal alcohol exposure (PAE) on placental genes involved in growth and on the size of affected newborns were explored in the study performed at the University of Helsinki and Helsinki University Hospital in Finland. The researchers observed that alcohol alters epigenetic marks on the placenta and also the head size of newborn, depending on the genetic variation inherited from the parents. Epigenetic marks are molecules, which bind to DNA sequence. They regulate the activity of genes and thus production of proteins in the cells. The research material was 39 alcohol-exposed and 100 control placentas. They were collected from mothers who gave birth in the Helsinki University Hospital and had given approval for their participation in the study.

Experts at St George’s, University of London, have reported that an Ebola vaccine is safe for children as well as adults and produces an immune response. The worst Ebola virus disease outbreak in history ended in 2016 after infecting 28,600 people and killing about 11,300 worldwide. The outbreak led to urgent action by medical experts across the world to combat this devastating disease; including the setting up of trials of vaccines to stop the disease taking hold.

This global commitment to develop a vaccine against the disease suggested eight options, out of a starting pool of 15 candidates, should be evaluated in clinical trials worldwide by the end of 2015. Professor Sanjeev Krishna, of St George’s University of London’s Institute for Infection and Immunity, said: “An unprecedented Ebola outbreak showed how it is possible for academics, non-governmental organisations, industry and funders to work effectively together very quickly in times of medical crisis. The results of the trial show how a vaccine could best be used to tackle this terrible disease effectively.

Sudden cardiac arrest cases had lower corrected calcium levels than control subjects did (9.18 mg/dL vs. 9.27 mg/dL).

 Findings of a new study published in Mayo Clinic Proceedings have potential implications for mechanisms as well as prevention of SCA

Sudden cardiac arrest (SCA) is fatal for over 90% of patients, and more than half of men and close to 70% of women who die of SCA have no clinical history of heart disease prior to this cardiac event. It is one of the leading causes of death in the United States and kills more people than any single cancer. Many patients who suffer SCA would not be considered high risk under current guidelines. These sobering facts drive the search for simple and relatively inexpensive ways to identify individuals at higher risk for SCA. In a study in Mayo Clinic Proceedings, researchers found that individuals with lower levels of calcium in the blood, which is easily monitored, are more likely to experience SCA than those with higher calcium levels.

“Our study found that serum calcium levels were lower in individuals who had a sudden cardiac arrest than in a control group. Patients with serum calcium in the lowest quartile (<8.95 mg/dL) had twice the odds of sudden cardiac arrest compared to those in the highest quartile (>9.55 mg/dL), even after controlling for multiple patient characteristics including demographics, cardiovascular risk factors and comorbidities, and medication use,” explained lead investigator Sumeet S. Chugh, MD, Pauline and Harold Price Chair in Cardiac Electrophysiology, Cedars-Sinai Heart Institute, Los Angeles, CA.