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Although society has made significant strides toward gender equality, many women still confront situations in which they feel disempowered. Developing skills and abilities that enable women to gain control and take action to improve their life situation is paramount to counteracting the limits that prevent them from challenging their disadvantaged position. This study explored the effect of an all-female canoe camping experience on fostering a sense of empowerment. This study used a phenomenological approach, and eight female college students participated in in-depth post-trip interviews. Interviews provided a means to better understand participants' experiences from an 8-day canoe camping expedition on the Suwannee River in northern Florida. Findings revealed a number of specific themes including meanings ascribed to empowerment, the power of the single-sex experience, engineering empowering experiences, and benefits beyond the experience. These results provide support for the development of all-female outdoor programming designed to meet specific outcomes.

Background: Wiedemann–Steiner syndrome (WSS), a rare autosomal-dominant disorder caused by haploinsufficiency of the KMT2A gene product, is part of a group of disorders called chromatinopathies. Chromatinopathies are neurodevelopmental disorders caused by mutations affecting the proteins responsible for chromatin remodeling and transcriptional regulation. The resulting gene expression dysregulation mediates the onset of a series of clinical features such as developmental delay, intellectual disability, facial dysmorphism, and behavioral disorders. Aim of the Study: The aim of this study was to investigate a 10-year-old girl who presented with clinical features suggestive of WSS. Methods: Clinical and genetic investigations were performed. Whole exome sequencing (WES) was used for genetic testing, performed using Illumina technology. The bidirectional capillary Sanger resequencing technique was used in accordance with standard methodology to validate a mutation discovered by WES in all family members who were available. Utilizing computational protein modeling for structural and functional studies as well as in silico pathogenicity prediction models, the effect of the mutation was examined. Results: WES identified a de novo heterozygous missense variant in the KMT2A gene KMT2A(NM_001197104.2): c.3451C>G, p.(Arg1151Gly), absent in the gnomAD database. The variant was classified as Likely Pathogenetic (LP) according to the ACMG criteria and was predicted to affect the CXXC-type zinc finger domain functionality of the protein. Modeling of the resulting protein structure suggested that this variant changes the protein flexibility due to a variation in the Gibbs free energy and in the vibrational entropy energy difference between the wild-type and mutated domain, resulting in an alteration of the DNA binding affinity. Conclusions: A novel and de novo mutation discovered by the NGS approach, enhancing the mutation spectrum in the KMT2A gene, was characterized and associated with WSS. This novel KMT2A gene variant is suggested to modify the CXXC-type zinc finger domain functionality by affecting protein flexibility and DNA binding. [ABSTRACT FROM AUTHOR]

Author(s): Alberto Frisoli Jr [sup.1] [sup.2] , Angela Tavares Paes [sup.3] , Jairo Borges [sup.1] [sup.2] , Sheila McNeill Ingham [sup.2] , Monica Maria Cartocci [sup.1] , Eliene Lima [sup.1] [...], Purpose To characterize the phenotypes of older adults with low lean mass and osteoporosis, concomitantly or isolated, in regards to poor physical performance and frailty status. Design Cross-sectional analysis of the SARCopenia and OSteoporosis in Older Adults with Cardiovascular Diseases Study (SARCOS). Setting Outpatient geriatric cardiology clinic. Participants and method 385 older adults underwent DXA analysis. Low lean mass was diagnosed according to FNIH and low BMD by a T-score [less than or equal to] -2.5 SD. Subjects were grouped into: I--Low lean mass and Osteoporosis (LLMO); II--Low lean mass (LLM); III--Osteoporosis (OP), and IV--Controls. Poor physical performance was diagnosed by weakness or slow walking speed or impaired mobility. Frailty was diagnosed by CHS criteria. Results The mean age was 78.22 [plus or minus] 7.16 years. The prevalence of LLMO, LLM, and OP were 14.8%, 39.5%, and 19.2%, respectively. LLMO subjects were older, predominantly women, with a high percentage of body fat (HTBF). LLM was represented by obese men, while individuals with OP were preferably women, older and leaner. In a regression analyses, LLMO presented an OR: 6.42 (2.63--15.65; p < 0.001) for weakness, OR: 2.55 (1.09--5.95; p = 0.030) for impaired mobility, and OR: 14.75 (2.72--79.94; p = 0.002) for frailty. After adjusting for HTBF, the OR for frailty, decreased to 7.25 (1.11-47.21; p = 0.038). LLM and OP were associated only with weakness with an OR: 3.06 (1.36-6.84; p = 0.006) and OR: 3.14 (1.29-7.62; p = 0.011), respectively. Conclusion In Brazilian older community-dwelling outpatient adults, the phenotype characterized by low lean mass and osteoporosis presents a higher association with impaired mobility, weakness and frailty status compared to the others phenotyeps and controls. A high percentage of body fat presents a synergistic effect with low lean mass and osteoporosis phenotype in regards to frailty.