SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.

The molecular diagnosis of type 1 facioscapulohumeral muscular dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus. Until recently, the diagnosis of FSHD2 relied solely on the absence of a shortened D4Z4 allele in clinically affected patients. It is now established that most FSHD2 cases carry a heterozygous variant in the SMCHD1 gene.

Factors associated with attitudes toward death and dying in the second half of life: A scoping review.

How we think and feel about death and dying affects how we live our lives and our opportunities for healthy aging. This scoping review, using the PRISMA guidelines and drawing on the World Health Organizations public health framework for healthy aging, examined the personal, health and environmental factors associated with attitudes toward death and dying in persons 50 years and older. Most of the 74 eligible studies focused only on negative attitudes to death and few studies investigated the comprehensive range of factors that influence attitudes to death and dying.

Systematic review on attitudes towards death and dying in adults 50 years and older living in countries with community transmission of COVID-19.

Background: The COVID-19 pandemic has underscored older adults' vulnerability to severe illness or death. Increased public awareness of mortality, with daily reminders of preventive measures, spurred interest in understanding the impact on death-related thoughts. This systematic review analyses existing literature on death attitudes among individuals aged 50 and older during the COVID-19 pandemic and focuses on associated factors.