Ectodermal dysplasias: Classification and organization by phenotype,genotype and molecular pathway

An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins).     

Peak oxygen uptake and maximal power output of Olympic wheelchair-dependent athletes.

To extend the existing data base on the cardiovascular capacity of wheelchair-dependent athletes, a maximum wheelchair exercise test was conducted by 48 athletes (8 females and 40 males) on a motor driven treadmill. Athletes were selected on availability from the representatives of eight different disciplines. For 36 subjects maximal external power was calculated on the basis of a separate drag test. Maximal oxygen uptake (VO2max) for the male population was 2.23 l.min-1 (32.9 ml.kg-1.min-1). Subjects were divided into functional categories according to the International Stoke Mandeville Classification, with one nonambulatory, nonparaplegic group classified as "LA." The LA group displayed the highest values while the class IC tetraplegic showed the lowest performance level. Classified over sports disciplines, male track and field representatives showed the highest VO2max (2.86 l.min-1, 44.9 ml.kg-1.min-1) and target shooting athletes the lowest (1.32 l.min-1, 16.3 ml.kg-2.min-1). Maximal power output was on average 81.1 W for the male population and varied from 65.8 W for class II athletes to 92.2 W for class LA. Between sports values ranged from 96.8 W for basketball players to 48.2 W for the archery representative. These data are useful for setting standards for maximally attainable performance levels in relation to sport, functional classification, or sex and underline the capability of the wheelchair-dependent to improve cardiovascular fitness.