Search results for "GIR"
showing 10 items of 370 documents
Recognition and the Ideology of Merit
2015
Increasing girls' interest in technology education as a way to advance women in technology
2016
Technology-oriented fields are still largely male-dominated, and an effective approach for increasing the number of women in natural science and technology careers has not yet been achieved in EU countries. A related concern, particularly in Finland, is that even though gender equality and non-discrimination have long been critical concerns in education to date there has been very little of research in Finland about girls’ motivations towards technical craft or technology education, nor about their relation to women’s career aspirations in technology-oriented fields. The present study is my contribution to the concern of getting more women into technology by investigating how to increase gi…
“Things that matter most must never be at the mercy of things that matter least” : En kvantitativ studie av psykiske helseplager blant ungdom i Norge…
2018
Masteroppgave psykisk helsearbeid ME504 - Universitetet i Agder 2018 This master thesis has been developed in collaboration between Bente Melbøe Hokland and Majbritt Legind Hersel. Throughout our education we have often discussed a common wonder about youths; why someone is doing well in life while others do not. The master thesis gave us the opportunity to conduct a quantitative survey where we through Ungdata have investigated how many young people who indicate to struggle with depressive ailments and how this is distributed among the sexes. The figures are from 2015. After mapping the scope, the purpose is to investigate which factors may be associated with the experience of depression a…
Does δ-sarcoglycan-associated autosomal-dominant cardiomyopathy exist?
2009
In this study we clinically and genetically characterize a consanguineous family with a homozygous novel missense mutation in the delta-sarcoglycan gene and a second delta-sarcoglycan mutation that has previously been reported to cause severe autosomal-dominant dilated cardiomyopathy. We identified a novel missense mutation in exon 6 (p.A131P) of the delta-sarcoglycan gene, which in a homozygous state leads to the clinical picture of a limb girdle muscular dystrophy. In four heterozygous carriers for the mutation, aged 3-64 years, a second sequence variant in exon 6 (p.S151A) of the delta-sarcoglycan gene was detected on the other allele. This second missense change had previously been repo…
Transcriptional profiles from patients with dystrophinopathies and limb girdle muscular dystrophies as determined by qRT-PCR.
2003
Mutations in genes coding for the dystrophin-glycoprotein complex (DGC) cause inherited muscular dystrophies (MD), including Morbus Duchenne (DMD) and M. Becker (BMB) as well as limb-girdle muscular dystrophies (LGMD). New insights into the pathophysiology of the dystrophic muscle, the identification of compensatory mechanisms and additional proteins interacting with dystrophin are essential for developing new treatments. In order to define molecular mechanisms induced by lack of dystrophin and the subsequent counter-regulatory transcriptional response of degenerating muscle fibres, we have investigated the mRNA expression of 19 functionally linked genes in biopsies of patients with MD by m…
Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
2004
We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I). The sarcolemma of these patients typically displays an immunocytochemical reduction of alpha-dystroglycan. In this report we extend these observations and report a clear correlation between the residual expression of alpha-dystroglycan and the phenotype. Three broad categories were identified. Patients at the severe end of the clinical spectrum (MDC1C) were compound heterozygote between a null allele and a missense mutation or carried two missense mutations and displayed a profound depletion of alpha-d…
The Shoulder Girdle
2000
The shoulder girdle is an anatomically complex structure consisting of the scapula, clavicula, proximal humerus, and their articular connections. The wide range of motion is provided by the glenohumeral joint and the two shoulder girdle joints, the acromioclavicular and sternoclavicular joints.
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
2012
Objective: Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to improve diagnostic accuracy. Methods: DNA samples of 101 patients in 95 kindreds at our quaternary referral center in Finland, who had undetermined limb-girdle muscular dystrophy (LGMD), calf distal myopathy, or creatine kinase (CK) elevations of more than 2,000 IU/L, were selected for ANO5 genetic evaluation, and the clinical findings of patients with mutations were retrospectively analyzed. Results: A total of 25 patients with muscular dystrophy caused by 11 different recessive mutations in the ANO5 gene were identified. The …
The empowerment of young girls and women through sport and physical activity participation : a case study in Ethiopia
2017
As a consequence of gender-role socialization, women across the world are still facing unfair perceptions and treatments. Being empowered at the individual level would serve as a platform from which women could combat the existing inequality treatment and perception to gain full control over their lives. Sport and physical activities could serve as a platform for women to gain control. The aim of this research is to explore the potential that sport and physical activity (PA) have in the empowerment of young girls and women in Ethiopia. Additional questions were used in order to further explore any disempowerment experiences as a result of sport and physical activity participation, barriers …