O Ombudsman do Paciente — a experiência norueguesa

Para facilitar a implementação prática das leis referentes aos direitos dos pacientes, alguns países na Europa criaram o sistema de Ombudsman do Paciente. A Noruega foi uma das primeiras nações a adotar essa figura, há 20 anos, e hoje, conta com um ombudsman em todos os 19 condados (estados). A partir de 2001, a instituição do Ombudsman do Paciente adquiriu bases legais com o Decreto dos Direitos dos Pacientes. O papel principal deste profissional é o de salvaguardar os pacientes e contribuir para a melhoria da qualidade dos serviços de saúde. Para tanto, oferece orientações, ajuda a esclarecer questões de saúde e apresenta casos para as autoridades públicas e para o sistema econômico de compensação. Com base na experiência européia e, em particular, norueguesa, este artigo discute a estrutura organizacional, papéis e funções do esquema de Ombudsman do Paciente

CDK4 (cyclin-dependent kinase 4)

Review on CDK4 (cyclin-dependent kinase 4), with data on DNA, on the protein encoded, and where the gene is implicated

Lymphomas diagnosed in Uganda during the HIV/AIDS pandemic

Background: There are numerous reports from different countries documenting a change in frequency and profile of lymphomas after the onset of the HIV/AIDS pandemic. In Uganda little is known concerning the distribution of lymphoma subtypes diagnosed at the Department of Pathology, Makerere University College of Health Sciences during this period.Objective: To examine the frequency and diagnostic profile of lymphomas diagnosed in Uganda in the HIV/AIDS era.Design: Retrospective study.Setting: Department of Pathology, Makerere University College of Health Sciences, Kampala, Uganda.Subjects: One thousand and thirteen patients diagnosed with lymphomas in the period 1980-1989.Results: The most common type of non-Hodgkin lymphoma was Burkitt lymphoma (36%). The frequencies of lymphocytic and histiocytic types were 34.5% and 8.2% respectively.Conclusion: There was a decrease in histopathologically diagnosed lymphomas in Uganda in the period 1980-1989. Burkitt lymphoma continues to be the most common subtype diagnosed, some major lymphoma subtypes like T-cell and follicular lymphomas were not reported in the country in the HIV/AIDS era

Dystopia and Utopia in Oryx and Crake and The Road

A Brief Summary In this master thesis I investigate how dystopic and utopic elements unfold in the two novels Oryx and Crake (2003), written by Canadian author Margaret Atwood, and The Road (2006), written by the American author Cormac McCarthy. The theoretical foundation of my thesis is Arnold van Gennep’s (1873-1957) work on the liminal phase, maybe more commonly known or referred to as the “threshold theory”. The theory describes rituals of for instance how a child transforms from being a child to an adult, and how there in between being a child and becoming an adult is a window of opportunity, where almost everything is possible, or at least not determined. The other main theory I lean my analyses and conclusions on is the Australian philosopher Val Plumwood’s work on dualism, and false dichotomies. The main effect of these false dichotomies is a hierarchical arrangement of the world, for instance; where humans are placed above nature, or men above women. The primary focus of my thesis is to investigate who the people living after a disaster of worldwide proportions are, and which elements of utopia there are in these dystopic fictional versions of the world. What is left, and what is still possible? I try to shed light on some of the various aspects of human life as it is described in these novels, for instance the relationship between parents and children, between men and women, and humans and nature. I take into consideration both similarities and differences between the two books, and how they at the same time tell a very different story, yet also converge at several crucial points. As to conclusions, there is in my view an opportunity for change in the liminal phases as they are presented in these novels. Some of these possibilities are not obvious at first glance. By reading closely, however, one discovers for instance how the little boy in The Road is a liminal character, and the boundless empathy between him and his father promises hope for a future in an otherwise almost completely bleak world.Allmenn litteraturvitenskap mastergradsoppgaveMAHF-LITTALLV35

Påtalebegjæring ved brudd på kravet om forsvarlig helsehjelp

BAKGRUNN. Statens helsetilsyn kan begjære påtale mot helsepersonell og anmode om påtale mot virksomheter, her felles omtalt som «begjæring». Formålet med denne undersøkelsen var å finne ut hva som skal til for at Statens helsetilsyn begjærer påtale mot leger og/eller virksomheter for brudd på forsvarlighetskravet, hvor ofte det skjer og hva utfallet blir. MATERIALE OG METODE. Begjæringer i perioden 1.2. 2002 – 31. 10.2008 er gjennomgått. Data stammer fra to registre for tilsynssaker. I tillegg ble det innhentet informasjon om utfallet av begjæringene, hovedsakelig fra politi og påtalemyndighet. Antallet tilsynssaker er oppgitt i runde tall, da ulike tellemåter gir litt forskjellig resultat. RESULTATER. Av totalt ca. 11 500 tilsynssaker gjaldt ca. 7 700 spørsmålet om hvorvidt leger og/eller virksomheter hadde gitt uforsvarlig helsehjelp. Helsetilsynet i fylkene konkluderte med uforsvarlighet i ca. 2 400 saker. Statens helsetilsyn begjærte 19 påtaler i 16 saker (0,7 %) – ni mot leger og ti mot virksomheter for å ha handlet grovt uforsvarlig. Av begjæringene mot legene endte fire med forelegg, fire ble henlagt og én er ikke avgjort. Åtte virksomheter ble ilagt forelegg, mens to fikk sakene henlagt. Antall påtalebegjæringer for å ha handlet grovt uforsvarlig har vært synkende i perioden. FORTOLKNING. Statens helsetilsyn legger i liten grad inn i sin tilsynsrolle det å initiere straffesaker mot leger og virksomheter for uforsvarlighet.publishedVersio

The zebrafish homeobox gene Hox(zf-114): primary structure, expression pattern and evolutionary aspects

It is gradually becoming accepted that vertebrate homeobox genes, like their counterparts in Drosophila, are crucial for normal development of the embryo. Most vertebrate homeoboxes reported so far are related to the Drosophila Antennapedia (Antp) sequence, and here we describe hox[zf-114], a novel Antp-like homeobox gene from the zebrafish. The sequence of the hox[zf-114] homeodomain indicates that this gene could be a member of a subfamily defined by the mouse Hox-1.5/-2.7/-4.1 genes. However, the evolutionary origin of hox[zf-114] is unclear and, based on the putative protein sequence, we conclude that it is not directly homologous to Hox-1.5, Hox-2.7 or Hox-4.1, or to other known mammalian homeobox genes. Nevertheless, as revealed by in situ hybridization, hox[zf-114] exhibits a spatial expression pattern typical for vertebrate Antp-like homeobox genes. Transcripts are detected in the posterior hindbrain, where a sharp anterior border of expression is observed, and throughout the spinal cord. The hox[zf-114] gene is also active in a region that gives rise to the pectoral fins. These findings suggest a role for hox[zf-114] in anteroposterior patterning of the neural tube and in pectoral fin development.publishedVersio

pRb2/p130 protein expression and RBL2 mutation analysis in Burkitt lymphoma from Uganda

<p>Abstract</p> <p>Background</p> <p>The members of the retinoblastoma protein family, pRb, p107 and pRb2 (p130), are central players in controlling the cell cycle. Whereas disturbed function of pRb is commonly seen in human cancers, it is still an open question whether pRb2 is involved in tumorigenic processes. However, altered subcellular localization of pRb2 and mutations in the pRb2-encoding gene <it>RBL2 </it>have been described for some tumours, including Burkitt lymphomas (BL).</p> <p>Methods</p> <p>We retrieved 51 biopsy specimens of endemic BL cases from Uganda. The expression of pRb2 was determined by immunohistochemistry. Exons 1922 of the <it>RBL2 </it>gene, the region known to contain a nuclear localization signal, were screened for mutations by PCR amplification and direct DNA sequencing.</p> <p>Results</p> <p>Nearly all of our cases (84.0%) were positive for pRb2 protein expression although this protein is a marker for growth arrest and Burkitt lymphoma is characterized by a high proliferation rate. Of the positive cases, 73.8% were scored as expressing the protein at a high level. Subcellular pRb2 localization was predominantly nuclear and no cases with expression restricted to the cytoplasm were observed. We did not detect any <it>RBL2 </it>mutations in the part of the gene that encodes the C-terminal end of the protein.</p> <p>Conclusion</p> <p>The majority of endemic BL cases from Uganda express pRb2, but somatic <it>RBL2 </it>mutations affecting the protein's nuclear localization signal appear to be rare.</p

Type 2 diabetes genes : present status and data from Norwegian studies

The worldwide rise in prevalence of type 2 diabetes has led to an intense search for the genetic risk factors of this disease. In type 2 diabetes and other complex disorders, multiple genetic and environmental factors, as well as the interaction between these factors, determine the phenotype. In this review, we summarize present knowledge, generated by more than two decades of efforts to dissect the genetic architecture of type 2 diabetes. Initial studies were either based on a candidate gene approach or attempted to fine-map signals generated from linkage analysis. Despite the detection of multiple genomic regions proposed to be linked to type 2 diabetes, subsequent positional fine-mapping of candidates were mostly inconclusive. However, the introduction of genome-wide association studies (GWAS), applied on thousands of patients and controls, completely changed the field. To date, more than 50 susceptibility loci for type 2 diabetes have been detected through the establishment of large research consortia, the application of GWAS on intermediary diabetes phenotypes and the use of study samples of different ethnicities. Still, the common variants identified in the GWAS era only explain some of the heritability seen for type 2 diabetes. Thus, focus is now shifting towards searching also for rare variants using new high-throughput sequencing technologies. For genes involved in the genetic predisposition to type 2 diabetes the emerging picture is that there are hundreds of different gene variants working in a complex interplay influencing pancreatic beta cell function/mass and, only to a lesser extent, insulin action. Several Norwegian studies have contributed to the field, extending our understanding of genetic risk factors in type 2 diabetes and in diabetes-related phenotypes like obesity and cardiovascular disease.publishedVersio

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). To date, mutation screening has been limited to patients with a family history consistent with MODY. In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH). Subjects and methods: We sequenced the ABCC8, KCNJ11, GCK, GLUD1, and/or HNF4A genes in 220 patients with HH responsive to diazoxide. The order of genetic testing was dependent upon the clinical phenotype. Results: A genetic diagnosis was possible for 59/220 (27%) patients. KATP channel mutations were most common (15%) followed by GLUD1 mutations causing hyperinsulinism with hyperammonemia (5.9%), and HNF4A mutations (5%). Seven of the 11 probands with a heterozygous HNF4A mutation did not have a parent affected with diabetes, and four de novo mutations were confirmed. These patients were diagnosed with HI within the first week of life (median age 1 day), and they had increased birth weight (median +2.4 SDS). The duration of diazoxide treatment ranged from 3 months to ongoing at 8 years. Conclusions: In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family history of diabetes, once KATP channel mutations have been excluded

KRAS mutation analysis by droplet digital PCR of duodenal juice from patients with MODY8 and other pancreatic diseases

Background Maturity-onset diabetes of the young type 8 (MODY8 or CEL-MODY) is an inherited pancreatic disease characterized by chronic inflammation of the pancreas and diabetes. It is not known whether MODY8 patients have increased risk for developing pancreatic cancer. We investigated KRAS mutation load in duodenal juice from MODY8 patients, comparing with other groups of pancreatic disease. Methods Droplet digital PCR (ddPCR) was used to detect KRAS codon 12/13/61 mutations in duodenal juice sampled from 11 MODY8 patients, nine healthy subjects and 100 patients clinically investigated due to suspected pancreatic disease. Results KRAS mutations were detected in 4/11 patients with MODY8 (36%), 1/9 healthy subjects (11%), 15/44 patients with chronic pancreatitis (CP, 34%), 3/5 patients with pancreatic ductal adenocarcinoma (PDAC, 60%), 3/20 patients with acute pancreatitis (15%), 0/13 patients with other pancreatic disorders and 2/18 patients with nonpancreatic gastrointestinal disease (11%). Of the 28 positive juice samples, 25 (89%) had low-abundance mutations in codons 12/13, with a variant allele frequency (VAF) less than 1%. KRAS-positive patients with MODY8 or CP had significantly lower VAFs than patients with PDAC (Mann-Whitney U test; p = 0.041). Although the overall mutation detection rate was higher for subjects ≥50 years old (26%) than for younger subjects (15%), the difference was not statistically significant. Conclusions KRAS mutations were detectable in duodenal juice from MODY8 patients, but with low abundance and at the same frequency as in CP patients. The discriminative value of the analysis with regard to other pancreatic disease was limited.publishedVersio