Joint analysis of germline genetic data from over 29,000 cases with suspected hereditary breast and ovarian cancer (HBOC) as part of the NASGE initiative.

As multigene panel testing is becoming routine in clinical care, there are recommendations at national and international level, as to which genes should be analyzed in the context of a hereditary breast and ovarian cancer (HBOC). However, the individual composition of gene panels offered by testing laboratories vary, resulting in a different variant diagnostic rate. Therefore, we performed a retrospective NGS dataset analysis of suspected HBOC patients who had been tested at different German diagnostic laboratories that are part of the NASGE network.

Chromosome-scale genome dynamics reveal signatures of independent haplotype evolution in the ancient asexual mite .

Some unique asexual species persist over time and contradict the consensus that sex is a prerequisite for long-term evolutionary survival. How they escape the dead-end fate remains enigmatic. Here, we generated a haplotype-resolved genome assembly on the basis of a single individual and collected genomic data from worldwide populations of the parthenogenetic diploid oribatid mite to identify signatures of persistence without sex.

The influence of anorexia nervosa on oral health and related parameters potentially relevant to orthodontic treatment: a systematic review and meta-analysis.

Objectives: Information on the oral health of patients with anorexia nervosa remains not satisfactory. The aim of this systematic review is to evaluate oral health parameters in anorexic patients compared to healthy individuals. Furthermore, potential clinical implications for orthodontic treatment are discussed from an orthodontic perspective.

Differences in Perceived Versus Actual Sensory Perception in Avoidant/Restrictive Food Intake Disorder.

Background: Individuals with avoidant/restrictive food intake disorder (ARFID) self-report heightened sensitivity to taste and smell, but neither phenomenon has been systematically explored in the laboratory. We hypothesized that, compared to healthy controls (HC, n = 34), children, adolescents, and adults with full/subthreshold ARFID (n = 100; ages 9 to 23 years) would self-report heightened response to taste/smell stimuli and exhibit stronger bitter taste perception and heightened smell perception in performance-based tasks, and these differences would be especially prominent in those with the ARFID-sensory sensitivity presentation.

Method: We measured self-reported sensitivity to taste/smell with the adolescent/adult sensory profile (AASP).

Mechanisms of exercise-related neurocardiogenic syncope and the relationship between resting and dynamic cardiac testing.

Objective: Syncope is common among pediatric patients and is rarely pathologic. The mechanisms for symptoms during exercise are less well understood than the resting mechanisms. Additionally, inert gas rebreathing analysis, a non-invasive examination of haemodynamics including cardiac output, has not previously been studied in youth with neurocardiogenic syncope.