Gothenburg, Sweden: Developmental disorders are neurologically-based conditions that affect the acquisition of specific skills such as attention, memory, language and social interaction. Although they have a genetic cause, this is often difficult to detect through standard genetic analysis of the parents. The mutation found in the affected child is therefore termed a ‘de novo’ mutation […]
Non-invasive prenatal diagnosis for foetal sickle cell disease moves a step closer
Gothenburg, Sweden: Sickle cell disease (SCD) is a form of anaemia that is inherited when both parents are carriers of a mutation in the haemoglobin gene. Currently, it can only be diagnosed in pregnancy by carrying out an invasive test that has a small risk of miscarriage and is therefore sometimes declined by parents. Now, […]
Discovery of new genetic causes of male infertility will lead to better diagnosis and treatment
Gothenburg, Sweden: Infertility – the failure to conceive after a year of unprotected intercourse – affects one in every six couples worldwide, and the man is implicated in about half of these cases. Despite the known importance of genetic factors in the event of the man producing no sperm, only about 25% of these cases […]
Excess weight and body fat cause cardiovascular disease
Excess weight and body fat cause a range of heart and blood vessel diseases, according to the first study to investigate this using a method called Mendelian randomisation. In particular, the study published in the European Heart Journal [1], shows that as body mass index (BMI) and fat mass increase, so does the risk of […]
Antibodies against HPV16 can develop up to 40 years before throat cancer is diagnosed and mark a 100-fold increase in risk in white people
An international group of researchers has found that antibodies to the human papilloma virus type 16 (HPV16) develop in the body between six to 40 years prior to a clinical diagnosis of throat cancer, and their presence indicates a strong increased risk of the disease. The study, which is published in the leading cancer journal […]
Stress during early pregnancy is linked to reduced reproductive function in male offspring
Men whose mothers were exposed to stressful life events while they were in the first 18 weeks of pregnancy may have reduced sperm counts when they become adults, according to a study published in Human Reproduction [1], one of the world’s leading reproductive medicine journals. Research has shown that the first few months of pregnancy […]
Women are less likely to be resuscitated and survive a cardiac arrest than men
Women who have a cardiac arrest outside the hospital setting are less likely to receive resuscitation from bystanders and more likely to die than men, according to new research published in the European Heart Journal [1]. The researchers, led by cardiologist Dr Hanno Tan (MD, PhD) at the University of Amsterdam (The Netherlands), found that […]
Memory and thinking could be better protected in children with brain tumours if they are treated with proton therapy
Milan, Italy: A comparison of three types of radiotherapy for children’s brain tumours suggests that a type of proton therapy called pencil beam scanning offers the best hope of preserving cognitive functions. The study, presented at the ESTRO 38 conference, shows that this new form of radiotherapy delivers the lowest doses of radiation to the […]
Researchers identify ways to predict and avoid radiotherapy side effects: results from REQUITE study
Milan, Italy: Latest results from a project to discover what makes a cancer patient more likely to suffer adverse side-effects after radiotherapy have shown that a combination of biological markers and certain genetic changes can predict radiation sensitivity. In addition, the international team of researchers in the REQUITE project found further evidence to support an […]
Radiotherapy doubles survival for patients with mesothelioma
Milan, Italy: Mesothelioma patients are twice as likely to survive for two years or longer, if they are treated with a high dose of radiation to the affected side of the trunk, according to research presented at the ESTRO 38 conference. Mesothelioma is a rare but aggressive form of cancer that grows in the layers […]