The molecular basis of a significant number of cases of isolated growth hormone deficiency remains unknown. We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the RNPC3 gene, which codes for a minor spliceosome protein required for U11/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12-type introns. We found anomalies in U11/U12 di-snRNP formation and in splicing of multiple U12-type introns in patient cells. Defective transcripts include preprohormone convertases SPCS2 and SPCS3 and actin-related ARPC5L genes, which are candidates for the somatotroph-restricted dysfunction. The reported novel mechanism for familial growth hormone deficiency demonstrates that general mRNA processing defects of the minor spliceosome can lead to very narrow tissue-specific consequences.
Due to the ageing of the world’s population, age-friendly cities are emerging to promote active ageing by optimising opportunities for health, participation and safety, in order to improve the quality of life of older people. Despite initiatives in different countries, there is a lack of empirical research exploring their impact on older people. The objective of this study is to evaluate an age-friendly city by analysing its relationship with life satisfaction, taking into account the age cohort variables of the elderly and whether they live alone or with someone else. A two-stage study, in which 66 subjects participated in the qualitative analysis (focus groups) in Stage I and 203 of the quantitative analysis (survey methodology) or Stage II. Despite the differences found in the different groups of elderly persons, for all of them the domains of outdoor spaces and buildings, and community support and health services, are significantly related to life satisfaction, with the latter showing itself to be a predictor of such satisfaction. It is important to take into account the different groups of elderly persons, so as to be able to establish suitable specific actions. This study aims to make a contribution to the development of public policies that influence the life satisfaction of the elderly.
The objective of this study was to evaluate the reliability and validity of the Geriatric Depression Scale in its 15-item version (GDS-15) in Mexican older adults. Participants included 1178 older adults between the ages of 60 and 94 ( M = 69.16, SD = 7.69); 53.9% were women and 55.8% were married or with a partner. They completed the GDS-15, a subjective well-being scale, and a quality-of-life questionnaire. A Kuder–Richardson coefficient of .80 was obtained, which indicates an acceptable internal consistency of the GDS-15, as well as evidence of divergent validity with significant correlations of −.783 with subjective well-being and −.569 with quality of life, in addition to concurrent validity when discriminating between participants with low scores from those with high scores of depressive symptoms. The need for a simple screening tool such as the GDS-15 that helps in the identification of depressive symptoms in Mexican older adults is underlined.
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