Evidence has shown that hypoxic hearts have greater heart/fetus mass ratio. However, it is still unclear if either hyperplasia or hypertrophy causes the relatively increased heart mass. Furthermore, the genes that might be involved in the process have not yet been identified. In the present study, the cardiac transcriptome was analyzed to identify differentially expressed genes related to hypoxia. Eggs were incubated for 15 and 19 days in two different environments, normoxic and hypoxic. Normalized microarray results were analyzed to isolate differentially expressed probes using the Affymetrix chip. Total RNA was also isolated from another set of fetuses incubated in the same conditions and used to perform a qPCR in order to confirm the microarray results. In the four groups (15N, 15H, 19N, 19H), some probes were differentially expressed. From the eggs incubated for 15 days, the microarray revealed five probes that were differentially expressed according to the criteria (p<0.01 and absolute fold change FC>2) in the two programs (PLIER & RMA) used to normalize the data. From the eggs incubated up to 19 days, eight probes were differentially expressed in both programs. No further tests were performed on the 19 days fetuses since there was no significant difference in that group after incubation for the heart/fetus mass ratio. Apolipoprotein-A1, p22, similar to ENS-1 and b2 adrenergic receptor were further tested in qPCR (15 days sample). The differently expressed genes are linked to cell division and should be further studied to identify their function, especially the similar to ENS-1.

Rheumatoid arthritis is an autoimmune disease, where joints are attacked by the own immune system, leading to chronic inflammation and destruction of bone and cartilage. Inflammation is a complex process, controlled by many different substances. One of them is adenosine, which has anti-inflammatory properties. In this project, three polymorphisms in different genes, involved in synthesis and signaling of adenosine, were genotyped for 188 patients with RA and 362 controls without RA. The results shows that for the polymorphism in A2a, a gene coding for an adenosine receptor, there was no significant difference in genotype distribution between the groups. There were, however, some differences in the general sensation of pain and well-being reported by the patients. For the polymorphism in NT5E, a gene coding for a nucleotidase for extracellular adenosine synthesis, there were differences both regarding genotype distribution between the groups, and in the progression of the disease. The NT5E-AA genotype seems to increase inflammation, but decrease the number of tender joints. In the case of the polymorphism in ADA, which codes for adenosine deaminase, the minor allele frequency was too low for any conclusions to be made. An attempt was made to analyze the gene polymorphisms in relation to drinking habits, but the population was too small to generate any reliable conclusions. The project shows that the polymorphism in NT5E, whose functional consequences are yet unknown, might have an effect on the extracellular adenosin synthesis and RA pathogenesis. Further studies are required to shed more light on this matter. / Reumatoid artrit är en autoimmun sjukdom där leder angrips av det egna immunförsvaret, vilket leder till kronisk inflammation och nedbrytning av brosk och ben. Inflammation är en komplex mekanism som regleras av många olika substanser, varav en är adenosin, som i förhöjda koncentrationer fungerar som en broms av inflammationen. I detta arbetet har tre olika polymorfier i gener inblandade i syntes och signalering av adenosin genotypats för 188 patienter med nydiagnostiserad RA, samt hos en kontrollgrupp på 362 frivilliga utan reumatisk sjukdom. Avseende en polymorfi i A2a, som kodar för en adenosinreceptor, fanns inga signifikanta skillnader i fördelning mellan fall och kontroller. Beträffande sjukdomsförloppet sågs dock vissa skillnader i patienternas bedömning av smärta och välbefinnande. För polymorfin i NT5E, som kodar för ett nukleotidas för extracellulär adenosinsyntes, hittades skillnader både i fördelningen mellan RA-gruppen och kontrollgruppen, samt i sjukdomsförloppet, där NT5E-AA genotypen var relaterad till högre inflammation, men samtidigt till lägre smärtupplevelse. För den tredje polymorfin (ADA) var antalet individer med mutant allel för litet för att tillåta några slutsatser. Tester gjordes även för att se om de olika adenosinpolymorfierna korrelerade till alkoholkonsumtion, men underlaget var för litet för att några slutsatser skulle kunna dras. Arbetet visar att polymorfin i NT5E, vars funktionella effekt är okänd, kan ha en effekt på nukleotidasets förmåga att producera extracellulärt adenosin. Kompletterande studier på större material behövs för att bringa klarhet i dessa frågor.

<p><strong>Inledning:</strong> När en äldre människa har ett stort omvårdnadsbehov finns möjligheten att flytta till ett särskilt boende. Då äldres vardag ser olika ut är det av yttersta vikt att omvårdnadspersonalen kan ge stöd och hjälp så att den äldre skall kunna anpassa sig till den nya situationen. <strong>Syfte:</strong> Syftet med denna studie är att belysa hur anhöriga upplever att deras närstående i särskilt boende får en god omvårdnad. Metod: En kvalitativ ansats med empiriskt inslag användes där anhörigas upplevelser av omvårdnad, delaktighet och bemötande insamlades med hjälp av intervjuer. <strong>Resultat:</strong> Tre olika kategorier Omvårdnad, Delaktighet och Bemötande med nio underkategorier. En betydelsefull del i omvårdnaden är att det skapas en god kontakt mellan anhöriga och omvårdnadspersonalen för att finna ett bra sätt att kommunicera på. Det framkom hur viktigt det är att som vårdtagare känna att de blir sedda för den de är och att de får vara delaktiga i de omvårdnadsåtgärder som beslutas av omvårdnadspersonalen. <strong>Diskussion: </strong>Resultatet kan bidra till en ökad förståelse för anhörigas upplevelser av hur omvårdnaden bedrivs i särskilt boende. När anhöriga göras mer delaktiga i omvårdnaden, kan det leda till en bättre omvårdnad för vårdtagaren i särskilt boende. <strong>Slutsats:</strong> Resultatet som författarna kom fram till skulle kunna användas i utbildningssyfte då omsorgen av äldre människor kräver att omvårdnadspersonalen ständigt förnyar sina kunskaper. Detta kan vara till gagn för sjuksköterskan, de anhöriga och de äldre som bor i särskilt boende.</p> / <p><strong>Introduction:</strong> When a senior person has a large need for special care there is an option to relocate to a nursing home. The seniors every day varies there for it is of outmost importance the nursing care staff can support the senior that he maybe adapt to the new situation. <strong>Purpose:</strong> The purpose with this study is to enlighten how relatives experience their close ones in special nursing home receive good care treatment. Method: A quality approach with empirical elements is used where relatives experiences of care, being part of and recievment was collected with the help of interviews. <strong>Results:</strong> Three categories Care, Involvment and Recievment with nine sub categories. An important part in care is to create good contact between relatives and nursing care staff to evolve good ways for communication. It was revealed how important it is as a health care patient to feel they’re being looked upon for who they are and they be part of treatment measures and decisions made by nursing care staff. <strong>Discussion:</strong> The results can contribute to an increased understanding to how relatives experience care is being conducted in a special accommodation. When relatives are made more involved in care, may lead to a better care for care patient in a nursing home. <strong>Conclusion:</strong> The results which have been concluded could be used in educational purposes when the care of senior people demands that nursing care staff continuously renews their knowledges. This could be of use for the nurse, the relatives and the seniors living in a nursing home.</p>

Tez (Yüksek Lisans) - Süleyman Demirel Üniversitesi, Fen Bilimleri Enstitüsü, Elektronik Bilgisayar Eğitimi Anabilim Dalı, 2009. / Kaynakça var.

Die Bildung neuen Nervenzellen im erwachsenen Gehirn—adulte Neurogenese—ist bei Säugetieren auf spezifische Regionen beschränkt. Eine der beiden bekannten ist der Hippokampus, eine Gehirnstruktur, die eine wichtige Rolle beim Lernen sowie der Gedächtnisbildung spielt. Ein Reservoir von neuralen Stammzellen befindet sich in der subgranulären Zone des hippokampalen Gyrus dentatus. Diese Zellen teilen sich fortwährend und bilden neue Nervenzellen. Die Regulation adulter hippokampaler Neurogenese wird sowohl von der Umgebung beeinflusst als auch von mehreren Genen gesteuert. In der vorliegenden Arbeit wurden mittels Hochdurchsatz- Genexpressionsverfahren die an der Neurogenese beteiligten Gene identifiziert und ihr Zusammenspiel untersucht. Anhand von genetischen, umgebungsbedingten und zeitlichen Angaben und Variationen wurde ein vielseitiger Datensatz erstellt, der einen multidimensionalen Blick auf den proliferativen Phänotyp verschafft. Netzwerke aus Gen-Gen und Gen-Phänotyp Interaktionen wurden beschrieben und in einer mehrschichtigen Ressource zusammengefasst. Ein Kern-Netzwerk bestehend aus immerwiederkehrenden Modulen aus verschiedenen Ebenen wurde anhand von Proliferation als Keim-Phänotyp identifiziert. Aus diesem Kern-Netzwerk sind neue Gene und ihre Interaktionen hervorgegangen, die potentiell bei der Regulierung adulter Neurogenesis beteiligt sind. / Neurogenesis, the production of new neurons, is restricted in the adult brain of mammals to only a few regions. One of these sites of adult neurogenesis is the hippocampus, a structure essential for many types of learning. A pool of stem cells is maintained in the subgranular zone of the hippocampal dentate gyrus which proliferate and can differentiate into new neurons, astrocytes and oligodendroctytes. Regulation of adult hippocampal neurogenesis occurs in response to en- vironmental stimuli and is under the control of many genes. This work employs high-throughput gene expression technologies to identify these genes and their interactions with each other and the neurogenesis phenotype. Harnessing variation from genetic, environmental and temporal sources, a multi-faceted dataset has been generated which offers a multidimensional view of the neural precursor proliferation phenotype. Networks of gene-gene and gene-phenotype interac- tions have been described and merged into a multilayer resource. A core subnetwork derived from modules recurring in the different layers has been identified using the proliferation phenotype as a seed. This subnetwork has suggested novel genes and interactions potentially involved in the regulation of adult hippocampal neurogenesis.

No description available.

Inledning: I Sverige har alla blivande föräldrar rätt till fri mödravård. I stort sett alla kvinnor utnyttjar den förmånen. Barnmorskor vid MVC är ofta den första kontakten som de blivande föräldrarna träffar under graviditeten, och har också huvudansvaret för graviditeten ända fram till barnets födelse. Under de senare åren har mödravården alltmer fokuserat på det ofödda barnets hälsa. Förutom de rutinmässiga undersökningarna och samtalen är barnmorskans uppgift också att ge information kring olika fosterdiagnostiska metoder och genetiska avvikelser som kan upptäckas. Utifrån informationen ska de blivande föräldrarna kunna fatta egna beslut kring fosterdiagnostik, och ofta ta ett snabbt beslut. Det är därför viktigt att den information som ges är tydlig och detaljerad. Barnmorskans information ska göra att man känner sig trygg med de beslut man tar. Den utökade kunskapen, medvetenheten och känsligare tekniken ökar den enskilda förälderns önskan om relevant information och därför ställs högre krav på barnmorskor i rollen som förmedlare av information kring genetik och fosterdiagnostik. Därför är det viktigt att undersöka hur barnmorskorna själva upplever sin kunskapsnivå inom dessa områden, om de själva anser sig ha fått tillräcklig utbildning för att ge denna information till de blivande föräldrarna. Syftet med studien var att undersöka hur barnmorskor upplever sin kunskapsnivå och utbildning inom fosterdiagnostik och genetik samt att undersöka vilka behov för utökade resurser inom dessa ämnen barnmorskorna ansågs föreligga. Material och metod: Totalt 200 barnmorskor på MVC, fördelade mellan olika regioner av Sverige, deltog i en enkätundersökning våren 2005. Svarsutfallet var 30 %. Frågeformuläret innehöll 49 frågor med både fasta och öppna svarsalternativ. Formuläret var bearbetat och utformat för denna studie. Resultat: Majoriteten av barnmorskorna ansåg sig ha bristfällig kunskap inom fosterdiagnostik och genetik. Många barnmorskor ansåg sig ha lite, men ej tillräcklig, kunskap kring ultraljud och moderkaks- och fostervattenprov. En fjärdedel av barnmorskorna ansåg sig inte ha någon kunskap alls kring NUPP eller genetik. Barnmorskorna ansåg också att de har fått för lite eller ingen utbildning alls inom dessa områden. Så stor andel som 67 % önskar ytterligare utbildning inom ovanstående ämnen. En liten andel (6 %) anser att det vore bra om några få barnmorskor fick ytterligare utbildning och på så sätt få en ökad kompetens. 11 % av barnmorskor ansåg att det vore bra med personer med specialkompetens, genetiska vägledare, knutna till mödravården, som de kan hänvisa blivande föräldrar till. Konklusion: Denna studie har resulterat i en sammanställning av hur de tillfrågade barnmorskorna vid MVC själva uppfattar sin kompetens och utbildning inom genetik och fosterdiagnostik. Då barnmorskorna själva ansåg sig ha bristfällig kunskap inom fosterdiagnostik och genetik samt ansåg att de fått för lite utbildning inom dessa ämnen bör tillvägagångssättet för genetisk vägledning vid svensk mödravård ses över. Resultaten från denna studie kan ses som ett viktigt underlag för hur genetisk vägledning för blivande föräldrar kan förbättras i Sverige. / Introduction: In Sweden, all pregnant women have the right and access to free antenatal care. A midwife is often the first professional contact the expecting parents will encounter, and the midwife is also the person with the key responsibility for the pregnancy. In recent years, antenatal care has increasingly focussed on the health of the unborn child. In addition to routine examinations and conversation, the midwives role is to inform about prenatal diagnosis, the risk figures, and the genetic divergence that can be detected. The parents should, based on this information, be able to make a decision about prenatal diagosis. It is therefore crucial that the information conveyed is clear and sufficient. As the knowledge and awareness in this area increases and as thetechniques gets more accurate, parents desire more relevant information, and the demand on midwives as informers in this area increases proportionally. Therefore it is important to investigate how the midwives experience their own knowledge about prenatal diagnosis and genetics, and if they consider that they have sufficient education in this area. Aims of the study: to investigate how midwives experience their own knowledge about prenatal diagnosis and genetics, to investigate if they consider that they have sufficient education in this area and to investigate what kind of needs for increased resources within this area the midwivesconsider to be important. Material and method: In total 200 antenatal care midwives from various towns of different sizes and from various regions throughout Sweden were invited to take part in a survey in the course of spring 2005. A questionnaire containing 49 questions was distributed by e- mail. About 30 % of the questionnaires were answered and returned. This questionairre was designed for this study. Results:Most midwives considered that they had insufficient knowledge about prenatal diagnosis and genetics. Many midwives said that they had some, but insufficient knowledge about ultrasound and chorionic villus sampling and amniocentesis. As many as 25% of the midwives thought that they had no knowledge about NUPP and genetics. The midwives also considered that they had none or only little education in prenatal diagnosis and genetics. Most midwives (67 %) answered that they would like additional education within prenatal diagnosis and genetics. A few (6 %) think it would be valuable if a few midwives could get extra education and thus increased competence. Others (11 %) consider it a good idea to employ genetic councellors within antenatal care. Conclusion: This study shows how midwives within antenatal care in Sweden assess their own knowledge and education within genetics and prenatal diagnosis. As the midwives consider that they have insufficient knowledge and education in this area, the way of giving this kind of information and genetic councelling within antenatal care in Sweden should be investigated.The results from this study can be regarded as a basis of how geneic councelling for expecting parents could be improved in Sweden.

Background: There is growing evidence that genetic variants have an impact on the pathogenesis of intracranial aneurysm (IA). Recently, the genetic locus around the elastin gene (7q11) has been identified as linked to IA in a Japanese population. Our aim was to confirm these results in Caucasian populations. Methods: We conducted a case-control study in 120 Caucasian patients with IA and 172 controls to investigate 8 single nucleotide polymorphisms (SNPs) and various haplotypes within the elastin gene, which were frequently found and associated with the phenotype in the Japanese populations. Real-time PCR and melting curve analysis were used for the detection of genotypes. Results: Allele frequencies and genotypes were equally distributed between Caucasian cases and controls. We failed to identify haplotypes that are associated with the phenotype in our population, which is in contrast to the Japanese study. However, allele frequencies in control populations differ between Caucasians and Japanese. Conclusions: We found no association between SNPs and haplotypes of the elastin gene and the occurrence of IA in our Caucasian populations. However, our data provide strong evidence for racial/ethnic differences in the association of SNP and specific haplotypes of the elastin gene with the phenotype. There might be other genetic variants of the elastin gene associated with IA in Caucasians. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

Background: Vascular remodeling generated by reactive oxygen species contributes to aneurysm formation. The NADPH oxidase system is a major source of superoxide anion not only in phagocytes, but also in endothelial and vascular smooth muscle cells. Polymorphisms of p22phox, an essential component of the NADPH oxidase system, are found to be associated with atherosclerosis, while a recent study found a significant association between the 214C>T polymorphism and the occurrence of ischemic cerebrovascular disease. We conducted a case-control study to investigate the relationship of five polymorphisms of the p22phox gene and the occurrence of cerebral aneurysms. Methods: The study population consisted of 113 patients with intracranial aneurysms and 53 control subjects. The 214C>T polymorphism was investigated by restriction fragment length polymorphism analysis, while polymorphisms 381T>C, 480G>A, 521C>T, and *24A>G were analyzed by direct sequencing of exon 6 and adjacent intronic sequences. Results: The analysis of a primary study sample comprising 35 cases and 28 controls failed to show a significant association between any of the five polymorphisms and the occurrence of intracranial aneurysms using both allele frequencies and genotypes (all nominal p > 0.05). Although there was a deviation from Hardy-Weinberg equilibrium in cases at the 521C>T locus (nominal p < 0.05), this could not be confirmed in a second study sample of 78 patients. Haplotypes were constructed regarding three frequent polymorphisms (214C>T, 521C>T, and *24A>G); haplotype frequencies in cases and controls were not significantly different. Conclusion: Although polymorphisms of the p22phox gene located in the coding region and the 3′-untranslated region were reported to be associated with atherosclerosis and cerebrovascular disease, our data provide evidence that there is no association between these polymorphisms and the occurrence of cerebral aneurysms in Caucasians. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

In Drosophila there are two different chromosome-wide targeting systems, the dosage compensation system that equalizes the transcriptional output from X-linked genes between males and females, and the regulation of the 4th chromosome mediated by the POF protein.   The best studied of these two mechanisms is the dosage compensation system. To attain dosage compensation in Drosophila at least five different proteins, encoded by the male-specific lethal genes msl1, msl2, msl3, mle and mof, are required. These proteins together with two non-coding RNAs (roX1 and roX2) form a dosage compensation complex (MSL complex), which binds exclusively to the X chromosome in Drosophila males and up-regulates the transcription approximately two times.   In this thesis I show that roX1 and roX2 are most likely the only non-coding RNAs within the MSL complex. As expected, the roX transcripts were enriched within the MSL complex. Interestingly, one additional transcript was identified within the MSL complex. This transcript did not associate with the X chromosome and is therefore not believed to be involved in up-regulation of the X-linked genes. This transcript encodes for the rate limiting component in the MSL complex, the MSL2 protein. A model is proposed in which free, partial or complete, MSL complex feed-back regulates the amount of msl2 transcript, and thereby limits the MSL complex production.   The second chromosome-wide regulatory system in flies acts on an autosome, the heterochromatic 4th chromosome. This regulation is a balancing mechanism between at least two different proteins, the chromosome 4 specific protein painting of fourth (POF) and heterochromatin protein 1 (HP1). POF binds to nascent RNAs transcribed from the 4th chromosome and HP1 target the same set of genes at the chromatin level. POF stimulates the transcribed genes, while HP1 represses them; together they create the most optimal condition for these genes. This type of balancing mechanism may be a more general way to fine-tune transcription at a chromosome-wide level and raises the question about autosomal gene regulation as a general mechanism.