Towards a Terminologia Anatomica Humana.

Unfortunately, the long-awaited revision of the official anatomical nomenclature, the Terminologia Anatomica 2 (TA2), which was issued in 2019 and after a referendum among the Member Societies officially approved by the General Assembly of the International Federation of Associations of Anatomists in 2020, is built on a new version of the Regular Anatomical Terminology (RAT) rules. This breaks with many traditional views of terminology. These changes in the Terminologia Anatomica of 1998 (TA98) met great resistance within many European Anatomical Societies and their members are not willing to use terms following the RAT rules.

Effects of hypermobile Ehlers-Danlos syndrome patients on the workflow and professional satisfaction of genetic counselors.

The Ehlers-Danlos syndromes (EDS), a group of uncommon connective tissue disorders, are, paradoxically, an increasingly common referral to genetics specialists. Of the 13 types of EDS, the most common is hypermobile EDS (hEDS), which lacks a known genetic etiology and for which diagnosis is achieved via a robust set of clinical criteria. While previous investigations have characterized many clinical aspects of EDS as a syndrome and patients' lived experiences, a gap in the literature exists regarding clinicians' experience caring for these individuals.

INSPIIRE - A Modular and Passive Exoskeleton to Investigate Human Walking and Balance.

Powered exoskeletons for SCI patients are mainly limited by their inability to balance dynamically during walking. To investigate and understand the control strategies of human bipedal locomotion, we developed INSPIIRE, a passive exoskeleton. This device constrains the movements of able-bodied subjects to only hip and knee flexions and extensions, similar to most current active exoskeletons.

Novel variant associated with congenital heart disease and increased risk of malignant arrhythmia and sudden cardiac death.

Introduction: The NKX2.5 gene is an important cardiac developmental transcription factor, and variants in this gene are most commonly associated with CHD. However, there is an increased need to recognise associations with conduction disease and potentially dangerous ventricular arrhythmias.

Comparison of willingness and preference for genetic counseling via telemedicine: before vs. during the COVID-19 pandemic.

The COVID-19 pandemic required genetic counseling services, like most outpatient healthcare, to rapidly adopt a telemedicine model. Understanding the trends in patients' preferences for telemedicine relative to in-person service delivery both before and after the advent of the COVID-19 pandemic may aid in navigating how best to integrate telemedicine in a post-COVID-19 era. Our study explored how respondents' willingness to use, and preference for, telemedicine differed from before to after the onset of the COVID-19 pandemic.