Children with Down Syndrome (DS) experience cognitive delays with language being one of the most impaired domains. Exploring the effects of congenital heart defects (CHD), hospitalization, hearing impairment, and parental concern can provide a more precise view of factors affecting language development. Participants were 49 children with DS, 22 to 54 months of age. Expressive and receptive vocabulary size was obtained using a word count with the MacArthur Communication Development Inventory (MCDI). Medical information was obtained from the child’s medical file. Results showed expressive vocabulary was marginally significantly different between children with DS and no CHD, a CHD that did not require surgery, and a CHD that did require surgery, such that children with a CHD requiring surgery had the smallest vocabulary. Children had significantly more health problems when they had a CHD that required surgery. Expressive and receptive vocabularies were significantly smaller for children with hearing impairment.

Unlike mammals, adult salamanders possess an intrinsic ability to regenerate complex organs and tissue types, making them an exciting and useful model to study tissue regeneration. The aims of this thesis are two fold, (1) to develop and characterize a reproducible cardiac regeneration model system in the newt, and (2) to decipher the cellular and molecular underpinnings involved in regeneration. In Paper I of this thesis we developed a novel and reproducible heart regeneration model system in the red-spotted newt and demonstrated for the first time the newt’s ability to regenerate functional myocardial muscle, following resection injury, without scarring. The observed findings coincide with an increase in several developmental cardiac transcription factors, wide-spread cellular proliferation of cardiomyocytes and non-cardiomyocyte populations in the ventricle and reverse-remodeling at later time points during regeneration. Of further interest was the identification of functionally active Islet1+ve and GATA4+ve cardiac precursor cells in regenerating areas. The observation of such cell types further compels the similarity between mammalian cardiac development and newt cardiac regeneration and justifies these animals as suitable model organisms for studying heart regeneration. In Paper II we wanted to decipher the molecular cues possibly driving cardiac regeneration in newts. Here we used qualitative and quantitative methods to delineate the function microRNAs (miRNAs) have in this process. One interesting candidate, miR-128, a known tumor suppressor miRNA and regulator of myogenesis, was found to have a regulatory role in controlling non-cardiomyocyte hyperplasia during newt cardiac regeneration. Of further interest was the discovery of a novel binding site of miR-128 in the 3’UTR of Islet1. We speculate that the natural increase in miR-128 expression levels during cardiac regeneration functions as a fine-tuning mechanism to control cellular proliferation of precursor cells. In Paper III of my thesis we sought to explore if a link exists between RNA editing, a wide-spread post-transcriptional process and regeneration. We observed that A-to-I editing enzymes (ADARs) are present in regenerating newt tissues and the localization of ADAR1 alternates between nuclear and cytoplasmic compartments during regeneration. This activity of ADAR1 during regeneration may be partly responsible for driving the cellular plasticity that is needed during multiple phases of tissue regeneration in the red-spotted newt. / <p>At the time of the doctoral defense, the following paper was unpublished and had a status as follows: Paper 2: Manuscript.</p>

Tissue factor (TF), a 47 kDa glycoprotein, is the initiator of the extrinsic pathway of blood coagulation and consequently of the upmost importance when damage to blood vessel occurs. The source of TF in circulation has been investigated. However, the source of TF is still not clear. One theory is that platelets express and increases the expression of TF after stimulation and the aim of our report was to investigate whether platelets really are a source for TF in circulation. Using specific primers for TF mRNA, platelets in plasma from healthy volunteers and from patients suffering from cardiac infarction were analyzed by using real-time polymerase chain reaction (PCR). Gel electrophoresis was performed after amplification of TF mRNA to verify the results. The samples were negative for TF when using real-time PCR and the few positive all had cycle threshold (Ct) values above 35. The contamination by monocytes was analyzed by using real-time PCR, with primers for CD14 and showed low amounts. After analysis, our conclusion was that platelets do not express TF. Although some samples had positive real-time PCR, the Ct values were all above 35, meaning they had very few transcripts in the initial samples and that the biological importance is uncertain. Since contamination of CD14 positive cells were found in most samples it can’t be ruled out that the origin of the positive TF mRNA is from monocytes.

Bakgrund: Hjärtsvikt är en kronisk sjukdom som påverkar livet både för den drabbade och dess närstående. Prognosen är allvarlig och slutskedet kan liknas vid cancersjukdom. Allt fler vårdas i hemmet, vilket ställer krav på egenvård och närståendes delaktighet. Närstående är ofta inte förberedda för den nya ansvarsfyllda rollen som sjukdomen kan medföra. Syfte: Syftet var att beskriva närståendes upplevelser av att leva nära en person med hjärtsvikt. Metod: En allmän litteraturstudie genomfördes och baserades på tolv kvalitativa och tre kvantitativa vetenskapliga artiklar. Resultat: Det framkom fyra kategorier av upplevelser i resultatet; ovisshet, förändrade roller, social påverkan samt fysisk och psykisk påverkan, som var för sig och tillsammans kunde leda fram till att livet förändrades för närstående till personer med hjärtsvikt. Slutsats: Hjärtsvikt förändrar livet för närstående och innebär nya krav och anpassning i vardagen. Hälsan påverkas både fysisk och psykiskt. Risken att drabbas av egen ohälsa ökar. Konsekvenserna av att vara närstående är flera särskilt då närstående själva ofta är äldre och har egna hälsoproblem. För att kunna stödja närstående måste sjuksköterskan förstå deras upplevelser. Att synliggöra dem kan främja både den sjuke och dess närstående. / Background: Heart failure is a chronic disease and effects life both for the ill person and their family. The prognosis is serious and can be compared with cancer. More people receive care in their home which increases the demands in self-care and their families’ participation. With the disease come new responsibilities, which families aren’t always prepared for, including new roles. Aim: To describe experiences of living close to a person with heart failure. Method: A literature review was conducted which was based on twelve qualitative and three quantitative scientific articles. Results: Four main categories were identified: experience of uncertainty, changing roles, physical and psychological effects and social effects. Conclusion: Heart failure changes the lives of the families. It involves new demands and adjustment in every-day-life and affects both their physical and mental health. The risk of developing health problem increases. The consequences of living close to a person with heart failure are many, especially if they are older and have health problems of their own. Nurses need to be aware of families’ experiences to be able to support them. We believe that both the ill person and their family can benefit from nurses making their experiences visible.

Heart failure is a chronic condition that increases the risk for death and disability. Beta blockers and ACE inhibitors have become standard treatments in heart failure because clinical trials have demonstrated their beneficial effect on mortality and morbidity in these patients. As not much is known about adherence to these medications, the main objectives of this project were to determine long term adherence to ACE inhibitors and beta blockers and determine how various degrees of adherence to a beta blocker can affect major health outcomes in patients with heart failure.<p> Data was obtained from Saskatchewan health from January 1, 1994 to December 31, 2003 for all heart failure patients from their first hospitalization for heart failure. Adherence was calculated using the fill frequency measure of adherence, and all survival analyses were completed using the Cox proportional hazards model.<p>Although 14, 000 patients were admitted to hospital for a first admission for heart failure, only 1143 subjects started a beta blocker and 5084 subjects started an ACE inhibitor within 3 months of the index hospitalization. Within the first year, adherence was excellent for both beta blockers (80.8 percent) and ACE inhibitors (82.5 percent). The proportion of patients remaining adherent slowly decreased to reach approximately 60 percent, for both medication classes, after 4 years. There was no significant difference in all-cause mortality between patients with high adherence and low adherence, but there appeared to be a trend towards decreased survival time in those remaining adherent throughout the study period [HR = 1.18 (95% CI: 0.98 to 1.43; p=0.07)].<p>Since the overall rate of adherence to beta blockers was excellent in most patients during the first year, it is possible that non-adherence is not responsible for a significant burden of mortality in Saskatchewan heart failure patients, and perhaps and the focus of quality improvement should be optimal prescribing of evidence-based therapies, and continued adherence over time.

To identify genes related to the heart developments, a total of 92 CHD families from Kaohsiung Veteran General Hospital, including 290 individuals with 95 affected, were genotyped in this study. Among these CHDs families, 54 were diagnosed as VSDs, accounted for 56.8% of all CHDs. Ten highly polymorphic markers, D22S420, D22S427, D22S1638, D22S941, D22S1648, D22S944, D22S1623, D22S264, D22S303 and D22S315, from centromere to the HSA22q telomere, covering HSA22q11 were genotyped by using a semi-quantitative fluorescent PCR. LOH at loci on 22q11 have been identified in 31 VSDs affected individuals. Candidate genes in HSA22q11 region was identified by bioinformatic methods firstly based on Ensembl (EMBL-EBI and the Sanger Institute), Genome browser (UCSU) and Map viewer (NCBI), and then FatiGO Data mining with Gene Ontology and Swiss-Prot annotations. In order to narrow down more specific cardiac development-related candidate genes within HSA22q11, TUBA8, DGCR2, DGCR14, CLTCL1, HIRA, TBX1 and GNB1L, from the centromere to telomere, were further subjected to dosage analyses by quantitative PCR. Results indicated the most frequent LOH region was localized on D22S1648. There are 48.3% and 38.7% of 31 VSDs patients with one copy deletion in TUBA8 and HIRA, respectively. Two VSDs patients were deleted in all seven candidate genes. Furthermore, there are one CAVC and one VSD patient were deleted in five consecutive genes, TUBA8, DGCR2, DGCR14, CLTCL1 and HIRA.

Objective: Since its implication, case payment system prevailed and increased cases number in the following years. Hospitals in Taiwan face continous challenge with emerging policies such as global budget and TW-DRG system, which is soon on the way. Remarkable medical resource comsuption is seen in patients with congenital heart deseases, with presence of structural heart defects at birth. The corrective treatment of congenital heart diseases, surgical and transcather, is usually undertaken in large-scale Hospitals in Taiwan.Congenital heart diseases. Items of case payment for congenital heart diseases treatment were implented years ago. However, in the literature there is yet no research about the results of its implentation. This study focus on three objectives: 1.To study of medical resource consumption of case payment system with congenital heart diseases. 2.To study the effect of patient and provider attributes on medical resource consuption in the case payment with congenital heart diseases. 3.To provide the evidence-based information for forcoming NHI policies. Materials and Methods: Retrospectively, claims data from Bureau of National Health Research Insurance (BNHI) for resource utilization of case payment for congenital heart diseases was analyzed. The data includes DD(Inpatient expenditures by admissions) and HOSB(Registry for contracted medical facilities) files ranged from 1997 to 2005. Data items meeting the criteria of both CHD and case payment were extracted. The relationships between patient factors (age, sex, DRG code), healthcare provider (contract type, accreditation type, ownership, area) and resource utilization (length of stay, expenditure) were studied. Results: A total of 4,366 admissions for CHD case payment was enrolled. The mean patients¡¦ age is 14.56 years. Female accounts for 55.46 % of the admissions. Among them there are 3954 open heart surgeries and 412 transcatheter treatments. Average hospital day is 11.6 and 3.37 days respectively. Average payment per case is NT$215,355 and NT$61,819 respectively. Different degrees of resource utilization occur with different patient or hospital characteristics, with statistical signifcance. More resource utilization tends to occur in extremes of age groups, e.g., newborn and elderly populations, regardless open heart surgery or transcatheter treatment cases. Also more hospital fee occurred in private hospital than public hospital, but less in medical centers when compared to metropolitian hospitals. For regression analysis of dependence of resource consumption on patient and hospital factors, the overall power of explanation is higher in transcather treatment cases. Among the factors influencing medical resource utilization, age_group and ownership are respectively the most significant factors. Conclusion: We have verify the hypothesis in this study, which emphasize that resource utlization differs by different patient and hospital factors. The pattern of resource utilization for this unique disease (CHD) and its discrepancy with concurrent payment criteria are evaluated in this study. Based on our results, adjustment of payment criteria should be reasonable to ensure early and adequate treatment for these patients. Thus this study provides strong insight for implication of TW-DRG for disease management. Further study will include aspects of resource utlization such as direct, indirect costs, tangle and intangle, and related complication and comorbidities.

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