Every CFTR variant counts - Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry.

Background: In times of genotype guided therapy options, a total of 3.2 % of people with CF (pwCF) in the German CF Registry[1] only have one or no CFTR-variant detected after genetic analysis. Additionally, genetic data in the Registry can be documented as free text and can therefore be prone to error.

Differential effects of ELX/TEZ/IVA on organ-specific CFTR function in two patients with the rare CFTR splice mutations c.273+1G>A and c.165-2A>G.

Evidence for the efficiency of highly-effective triple-CFTR-modulatory therapy with elexacaftor/tezacaftor/ivacaftor (ETI), either demonstrated in clinical trials or by testing, is lacking for about 10% of people with cystic fibrosis (pwCF) with rare mutations. Comprehensive assessment of CFTR function can provide critical information on the impact of ETI on CFTR function gains for such rare mutations, lending argument of the prescription of ETI. The mutation c.

Efficacy of Cognitive-Behavioral Therapy for the Prophylaxis of Migraine in Adults: A Three-Armed Randomized Controlled Trial.

Background: Behavioral approaches are central to the preventive treatment of migraine but empirical evidence regarding efficacy and effectiveness is still sparse. This study aimed to evaluate the efficacy of a newly developed migraine-specific, integrative cognitive-behavioral therapy program (miCBT) combining several approaches (trigger and stress management, coping with fear of attacks, relaxation training) by comparing it with a single behavioral approach (relaxation training, RLX) as an active control group and a waiting-list control group (WLC).

Methods: In a three-armed open-label randomized controlled trial, 121 adults with migraine were assigned to either miCBT, RLX or WLC.

Using the fast impact of anthropogenic aerosols on regional land temperature to constrain aerosol forcing.

Anthropogenic aerosols have been postulated to have a cooling effect on climate, but its magnitude remains uncertain. Using atmospheric general circulation model simulations, we separate the land temperature response into a fast response to radiative forcings and a slow response to changing oceanic conditions and find that the former accounts for about one fifth of the observed warming of the Northern Hemisphere land during summer and autumn since the 1960s. While small, this fast response can be constrained by observations.