The International Classification of Functioning Disability and Health (ICF) was approved in 2001 and, since then, several studies reported the increased interest about its use in different sectors. A recent overview that summarizes its applications is lacking. This study aims to provide an updated overview about 20 years of ICF application through an international online questionnaire, developed by the byline authors, and sent to each World Health Organization Collaborating Centers of the Family of International Classifications (WHO-FIC CCs). Data was collected during October 2020 and December 2021 and descriptive content analyses were used to report main results. Results show how, in most of the respondent countries represented by WHO-FIC CCs, ICF was mainly used in clinical practice, policy development and social policy, and in education areas. Despite its applications in different sectors, ICF use is not mandatory in most countries but, where used, it provides a biopsychosocial framework for policy development in health, functioning and disability. The study provides information about the needs related to ICF applications, that can be useful to organize targeted intervention plans. Furthermore, this survey methodology can be re-proposed periodically to monitor the use of the ICF in the future.
Hereditary angio-oedema (HAE) with normal C1 inhibitor is associated with heterozygous mutations in the factor XII gene (FXII-HAE). We report two Brazilian FXII-HAE families segregating the mutation c.983 C>A (p.Thr328Lys). In each family, one patient with a homozygous mutation was found. The homozygous female patient in family 1 displayed a severe phenotype. However, this falls within the clinical phenotype spectrum reported for heterozygous female mutation carriers. The homozygous male patient in family 2 also showed a severe phenotype. This finding is intriguing, as to our knowledge, it is the first such report for a male FXII-HAE mutation carrier. In the rare instances in which male mutation carriers are affected, a mild phenotype is typical. The present findings therefore suggest that homozygous FXII-HAE mutation status leads to a severe phenotype in females and males, and to an increased risk of manifest symptoms in the latter.
A few years ago, it began in Portugal the development of buildings fire risk analysis model, named MARIE, composed by eleven partial models according to the factors taking influence on that risk, having the model for the building egress (MEE), constituted by the building description model (MDE) and the occupants' movement model (MMO), already been completed. During MMO development, and due to the absence of national data allowing the characterization and quantification of people's movement kinematic aspects on adverse environments boosting building evacuation, as stated on fire emergency situations, it was adopted Predtechenskii & Milinskii (P & M) mathematical relations. MEE is, nowadays, being improved, regarding both MDE and MMO. These improvements affecting MMO are related, in one hand, with the occupants' behaviour, and, in the other hand, with the possibility of application to staircases of the mathematical relations of velocity and flow with density deduced by Predtechenskii & Milinskii. Therefore, several evacuation drills performed at the University of Coimbra Campus were filmed and analysed, where 321 people were involved, in order to obtain the expressions describing the movement in stairs, and later comparing them with P & M's expressions.
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