Att kommunicera i den virtuella- och den icke virtuella världen – Ungdomars normer, värderingar och tankar om den vardagliga kommunikationen via en mobiltelefon

Problem/Bakgrund: Genom den teknologiska utvecklingen har ungdomar idag vuxit upp i en värld där den digitala kommunikationen har blivit en naturlig del i vardagen och där de ständigt kommunicerar via telefonsamtal, sms och sociala medier. Vad händer egentligen mellan ungdomarna och deras kommunikation via mobiltelefonen – den ständiga flexibla kommunikation, där det verbala språket har fått en allt större betydelse. Syfte: Syftet är att studera hur ungdomars normer, värderingar och tankar förhåller sig till den vardagliga kommunikationen via en mobiltelefon? Utgångspunkter och upplägg: Utifrån en kvalitativ studie utgår jag från två fokusgrupper, bestående av nio ungdomar – fem tjejer och fyra killar. För att analysera mitt empiriska material har jag tagit hjälp av Thompsons begrepp ”ansikte mot ansikte interaktion” och ”medierad interaktion”, Habermas teorier om det talade språkets betydelse, Nilsson & Waldemarsons teorier om Kommunikation – Samspel mellan människor och Gesers sociologiska teorier av mobiltelefonen. I min analys jämför jag den verbala- och icke verbala och den virtuella- och icke-virtuella kommunikationen och interaktionen där fördelar och nackdelar beskrivs utifrån ungdomarnas olika perspektiv. Slutsatser/Resultat: Språket har en stor betydelse i kommunikationen men ska känsliga ämnen tas upp eller missuppfattningar och konflikter redas ut föredrar de att träffas ansikte mot ansikte. Mobiltelefonen uppfattas av mina intervjupersoner som ett socialt verktyg där känslan över att alltid vara tillgänglig skapar stress. Tillgänglighet handlar för dem om att påminna andra människor om sin egen existens. Då det inte finns något annat att göra ser de mobiltelefonen som ett självklart sällskap. Intryck av att bara sitta och iaktta och observera händelserna är ett scenario som de upplever som främmande och obehagligt

Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles

The muscle specific isoform of the supervillin protein (SV2), encoded by the SVIL gene, is a large sarcolemmal myosin II- and F-actin-binding protein. Supervillin (SV2) binds and co-localizes with costameric dystrophin and binds nebulin, potentially attaching the sarcolemma to myofibrillar Z-lines. Despite its important role in muscle cell physiology suggested by various in vitro studies, there are so far no reports of any human disease caused by SVIL mutations. We here report four patients from two unrelated, consanguineous families with a childhood/adolescence onset of a myopathy associated with homozygous loss-of-function mutations in SVIL. Wide neck, anteverted shoulders and prominent trapezius muscles together with variable contractures were characteristic features. All patients showed increased levels of serum creatine kinase but no or minor muscle weakness. Mild cardiac manifestations were observed. Muscle biopsies showed complete loss of large supervillin isoforms in muscle fibres by western blot and immunohistochemical analyses. Light and electron microscopic investigations revealed a structural myopathy with numerous lobulated muscle fibres and considerable myofibrillar alterations with a coarse and irregular intermyofibrillar network. Autophagic vacuoles, as well as frequent and extensive deposits of lipoproteins, including immature lipofuscin, were observed. Several sarcolemma-associated proteins, including dystrophin and sarcoglycans, were partially mis-localized. The results demonstrate the importance of the supervillin (SV2) protein for the structural integrity of muscle fibres in humans and show that recessive loss-of-function mutations in SVIL cause a distinctive and novel myopathy

SKY analysis revealed recurrent numerical and structural chromosome changes in BDII rat endometrial carcinomas

<p>Abstract</p> <p>Background</p> <p>Genomic alterations are common features of cancer cells, and some of these changes are proven to be neoplastic-specific. Such alterations may serve as valuable tools for diagnosis and classification of tumors, prediction of clinical outcome, disease monitoring, and choice of therapy as well as for providing clues to the location of crucial cancer-related genes.</p> <p>Endometrial carcinoma (EC) is the most frequently diagnosed malignancy of the female genital tract, ranking fourth among all invasive tumors affecting women. Cytogenetic studies of human ECs have not produced very conclusive data, since many of these studies are based on karyotyping of limited number of cases and no really specific karyotypic changes have yet been identified. As the majority of the genes are conserved among mammals, the use of inbred animal model systems may serve as a tool for identification of underlying genes and pathways involved in tumorigenesis in humans. In the present work we used spectral karyotyping (SKY) to identify cancer-related aberrations in a well-characterized experimental model for spontaneous endometrial carcinoma in the BDII rat tumor model.</p> <p>Results</p> <p>Analysis of 21 experimental ECs revealed specific nonrandom numerical and structural chromosomal changes. The most recurrent numerical alterations were gains in rat chromosome 4 (RNO4) and losses in RNO15. The most commonly structural changes were mainly in form of chromosomal translocations and were detected in RNO3, RNO6, RNO10, RNO11, RNO12, and RNO20. Unbalanced chromosomal translocations involving RNO3p was the most commonly observed structural changes in this material followed by RNO11p and RNO10 translocations.</p> <p>Conclusion</p> <p>The non-random nature of these events, as documented by their high frequencies of incidence, is suggesting for dynamic selection of these changes during experimental EC tumorigenesis and therefore for their potential contribution into development of this malignancy. Comparative molecular analysis of the identified genetic changes in this tumor model with those reported in the human ECs may provide new insights into underlying genetic changes involved in EC development and tumorigenesis.</p

Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage

Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle. Glycogenin-2 has been suggested as an alternative primer for glycogen synthesis in patients with glycogenin-1 deficiency. OBJECTIVE: The objective of this article is to investigate the importance of glycogenin-1 and glycogenin-2 for glycogen synthesis in skeletal and cardiac muscle. DESIGN, SETTING, AND PATIENTS: Glycogenin-1 and glycogenin-2 expression was analyzed by Western blot, mass spectrometry, and immunohistochemistry in liver, heart, and skeletal muscle from controls and in skeletal and cardiac muscle from patients with glycogenin-1 deficiency. RESULTS: Glycogenin-1 and glycogenin-2 both were found to be expressed in the liver, but only glycogenin-1 was identified in heart and skeletal muscle from controls. In patients with truncating GYG1 mutations, neither glycogenin-1 nor glycogenin-2 was expressed in skeletal muscle. However, nonfunctional glycogenin-1 but not glycogenin-2 was identified in cardiac muscle from patients with cardiomyopathy due to GYG1 missense mutations. By immunohistochemistry, the mutated glycogenin-1 colocalized with the storage of glycogen and polyglucosan in cardiomyocytes. CONCLUSIONS: Glycogen can be synthesized in the absence of glycogenin, and glycogenin-1 deficiency is not compensated for by upregulation of functional glycogenin-2. Absence of glycogenin-1 leads to the focal accumulation of glycogen and polyglucosan in skeletal muscle fibers. Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy

Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.

We describe a new type of cardiomyopathy caused by a mutation in the glycogenin-1 gene (GYG1). Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. The mutated glycogenin-1 protein was expressed in cardiac tissue but had lost its ability to autoglucosylate as demonstrated by an in vitro assay and western blot analysis. It was therefore unable to form the primer for normal glycogen synthesis. Two of the patients showed similar patterns of heart dilatation, reduced ejection fraction and extensive late gadolinium enhancement on cardiac magnetic resonance imaging. These two patients were severely affected, necessitating cardiac transplantation. The cardiomyocyte storage material was characterized by large inclusions of periodic acid and Schiff positive material that was partly resistant to alpha-amylase treatment consistent with polyglucosan. The storage material had, unlike normal glycogen, a partly fibrillar structure by electron microscopy. None of the patients showed signs or symptoms of muscle weakness but a skeletal muscle biopsy in one case revealed muscle fibres with abnormal glycogen storage. Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. We demonstrate that it may also be the cause of severe cardiomyopathy and cardiac failure without skeletal muscle weakness. GYG1 should be included in cardiomyopathy gene panels

Novel Tumor Suppressor Gene Candidates in Experimental Endometrial Carcinoma - From Cytogenetic to Molecular Analysis

Endometrial carcinoma (EC) is the most common form of gynecological malignancy, ranking fourth in incidence among tumors diagnosed in women. As is the case with other complex diseases, detailed analyses of the underlying mechanisms of cancer are difficult, due mainly to the genetic heterogeneity of the human population and differences in the environment and lifestyle of individuals. In this sense, analysis in animal models may serve as a valuable complement. The inbred BDII rat strain is genetically prone to spontaneous hormone-related EC and it has been used as a powerful model to investigate molecular alterations in this tumor type. BDII female rats were crossed with males from two non-susceptible rat strains and tumors were developed in a significant fraction of the progeny. We subjected a subset of BDII rat tumors to detailed analysis based on the molecular data used for the classification of human ECs. Our analysis revealed that this tumor model can be related to higher grade human type I ECs, i.e. a subgroup of ECs that constitutes more than 80% of this tumor type in humans. Earlier work using comparative genome hybridization (CGH) revealed that rat chromosome 10 (RNO10) was frequently involved in cytogenetic aberrations in BDII rat tumors. To identify the potential target region(s)/gene(s) for these changes, we subjected a panel of rat ECs to allelic imbalance (AI) analysis. Four distinct regions of recurrent AI were identified. By deriving evolutionary tree models based on AI data, we demonstrated that one of these AI regions (located adjacent to Tp53) was close to the root in the derived onco-tree models, indicating that this segment might harbor early important events. In combined FISH, chromosome paint, gene expression and gene sequencing analyses, we found that, instead of Tp53, the main selection target was a region close and distal to Tp53. We developed a detailed deletion map of this area and substantially narrowed down the size of the candidate region. We then subjected all 19 genes located within this segment to qPCR analysis, followed by statistical analysis of the results, and thus identified the Hic1, Skip and Myo1c genes as potential target(s). By subjecting these genes to DNA sequencing, analysis of protein expression and of epigenetic silencing, we ruled out Hic1 and confirmed Skip and Myo1c as the candidates. Interestingly, it appears that Skip and Myo1c perform overlapping roles in PI 3-kinase/Akt signaling, which is known to have implications for the survival and growth of cancer cells. In conclusion, starting from cytogenetic findings and applying a candidate gene approach, we introduced two attractive candidate genes within the independent region of tumor suppressor activity distal to Tp53

Åtgärdsprogram - till vilken nytta? : En studie i hur det skriftliga åtgärdsprogrammet bidrar i arbetet med elever i matematiksvårigheter.

Abstract All students in the Swedish elementary school that do not reach the educational objectives in mathematics have a legal right to receive support in order to reach these objectives. An action plan shall be created, where it should be visible what supportive measures the student is given to reach the objectives. The purpose of our final thesis is to investigate how the action plan can contribute to the work with students that experience difficulties within mathematics. The study is performed on 7-9th grade schools, and the empirical material is gathered through reading of hundreds of action plans, observations, and interviews of students, teachers, remedial teachers and headmasters. The theoretical frame used is hermeneutics, constructivism and perspective on special education. The result of the study is that action plans do play an important role in the work with students that experience difficulties within mathematics, but the quality of the programs seems to vary. Some action plans are clearly stated, contain tangible actions, both on individual as well as on a group level, that help the student in their learning, whereas other programs are unclear and aimed only at what the student himself should perform to reach the objectives, i.e. only on an individual level. The remedial teaching support is often categorical, they are assuming that the student is the owner of the problem, and the support is also given from that perspective. That means that the student is given support in the format of individual education by a remedial teacher or by education in a smaller group

Molecular classification of spontaneous endometrial adenocarcinomas in BDII rats.

Female rats of the BDII/Han inbred strain are prone to spontaneously develop endometrial carcinomas (EC) that in cell biology and pathogenesis are very similar to those of human. Human EC are classified into two major groups: Type I displays endometroid histology, is hormone-dependent, and characterized by frequent microsatellite instability and PTEN, K-RAS, and CTNNB1 (beta-Catenin) mutations; Type II shows non-endometrioid histology, is hormone-unrelated, displays recurrent TP53 mutation, CDKN2A (P16) inactivation, over-expression of ERBB2 (Her2/neu), and reduced CDH1 (Cadherin 1 or E-Cadherin) expression. However, many human EC have overlapping clinical, morphologic, immunohistochemical, and molecular features of types I and II. The EC developed in BDII rats can be related to type I tumors, since they are hormone-related and histologically from endometrioid type. Here, we combined gene sequencing (Pten, Ifr1, and Ctnnb1) and real-time gene expression analysis (Pten, Cdh1, P16, Erbb2, Ctnnb1, Tp53, and Irf1) to further characterize molecular alterations in this tumor model with respect to different subtypes of EC in humans. No mutation in Pten and Ctnnb1 was detected, whereas three tumors displayed sequence aberrations of the Irf1 gene. Significant down regulation of Pten, Cdh1, p16, Erbb2, and Ctnnb1 gene products was found in the tumors. In conclusion, our data suggest that molecular features of spontaneous EC in BDII rats can be related to higher-grade human type I tumors and thus, this model represents an excellent experimental tool for research on this malignancy in human