Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Four European Reference Networks (ERN-EYE, ERKNet, Endo-ERN, ERN-ITHACA) have teamed up to establish a consensus statement and recommendations for Bardet-Biedl syndrome (BBS). BBS is an autosomal recessive ciliopathy with at least 26 genes identified to date. The clinical manifestations are pleiotropic, can be observed in utero and will progress with age. Genetic testing has progressively improved in the last years prompting for a revision of the diagnostic criteria taking into account clinical Primary and Secondary features, as well as positive or negative molecular diagnosis. This consensus statement also emphasizes on initial diagnosis, monitoring and lifelong follow-up, and symptomatic care that can be provided to patients and family members according to the involved care professionals. For paediatricians, developmental anomalies can be at the forefront for diagnosis (such as polydactyly) but can require specific care, such as for associated neuro developmental disorders. For ophthalmology, the early onset retinal degeneration requires ad hoc functional and imaging technologies and specific care for severe visual impairment. For endocrinology, among other manifestations, early onset obesity and its complications has benefited from better evaluation of eating behaviour problems, improved lifestyle programs, and from novel pharmacological therapies. Kidney and urinary track involvements warrants lifespan attention, as chronic kidney failure can occur and early management might improve outcome. This consensus recommends revised diagnostic criteria for BBS that will ensure certainty of diagnosis, giving robust grounds for genetic counselling as well as in the perspective of future trials for innovative therapies.

Are Exposures to Multiple Frequencies the Key to Future Radiofrequency Research?

There is an extensive literature investigating possible effects of exposure to radiofrequency (RF) electromagnetic fields associated with mobile phone technologies. This has not identified any public health risks with any degree of certainty. Some epidemiological studies have observed associations between heavy users of mobile phones and some types of cancer, but animal studies do not support this association, although a few studies have reported increased tumor yields. However, there is a crucial difference between epidemiology studies and laboratory work in terms of signals investigated: most people are exposed to a complex mixture of frequencies and signals at varying intensities, whereas the majority of animal studies have been performed using a single frequency or intensity. Whether this might explain the differences in outcome will be discussed, and whether there is a need for additional laboratory investigations that reproduce more accurately realistic exposure conditions will be considered.