Background The conventional ileostomy can be avoided. Many attempts have been performed. The first successful solution was the continent ileostomy- Kock pouch. The high rate of complications and revisions some experienced forced surgeon to try to restore the continence by the mechanism of the anus involving an ileal pouch. Both procedures afterwards documented excellent functional outcome, but the complication rates were not negligible and the long-term failure rate were increasing. Different surgical refinements were done and the risk factors for complications and failures were investigated as experience and materials increased. Restoring of the integrity of anal function and the succsess of the ileal pouch-anal anastomosis shadowed the practise of the forerunner: the continent ileostomy reservoir. This latter procedure was more demanding and seemed in the first year of ileal pouchanal anastomosis era to have significant more complications and revisional surgery. The worldwide adoption of the pelvic pouch decreased the need for the continent ileostomy and a vicious circle evolved. Today only few centres perform the procedure. Patients who are not suitable for ileal anal-pouch anastomosis are seldom offered the possibility of having a continent ileostomy. Aims The aims of the study was to investigate surgical load, complications and long-term functional outcome and to define factors which affect these subjects in patients operated with ileal pouch-anal anastomosis, continent ileostomy or both in one single surgical department during the same period and without any institutional learning curve, and furthermore, to compare and contrast the two options. Material and methods From 1984 to 2005(7) 304 (315) patients were operated with IPAA at St. Olavs Hospital (earlier: Regional Hospital of Trondheim). From 1983 to 2002(7) 50 (65) patients had a continent ileostomy constructed. This was an observational study in the scope of surveillance and quality assurance. All patients were offered a planed regularly annual outpatient clinic follow up programme including a prospective standardised interview on clinical outcome. This was a supplement to clinical investigation with endoscopy and consecutive documentation of complications and other factors affecting the patients’ health. Data were recorded in the medical chart. In this system, all patients had recorded dataset. However, the intervals between data recordings differ and the intervals increased by time. All inpatients data were included. Standard descriptive statistical analysis and simple associations were undertaken. Handling longitudinal data with limited cases, varying time intervals was done in a Times Series Cross Sectional data model, analysed, and adjusted for several factors affecting functional outcome. Multivariable analysis was done. Results The estimated failure rate at 20 years was 11.4% for ileal pouch-anal anastomosis and 11.6% for continent ileostomy. Salvage procedures rates were 31% vs. 38%, respectively (p=0.06). The salvage procedures in IPAA included local procedures and redoes with laparotomy. Salvage procedures in CI were related to the function of the nipple valve, mainly nipple valve sliding and less frequent stenosis or fistulas. Complications rates were high. In pelvic pouch surgery, half of the patients would need re-operations in 20 years. Ten percentages had early anastomotic separation without septic complications. Four percentages had early pelvic septic complications. Fistulas and sepsis at the anastomotic site were the main severe complications, often leading to pouch failure. Closing of the loop ileostomy was accompanied with complications in six percentages. In the patients (48) who did not have a covering stoma the overall complications rate did not differ from those with a loop ileostomy, although nine needed a secondary stoma. Covering stoma seems to postpone anastomotic complications. Handsewn anastomosis had more strictures, but otherwise the complications rates were similar to stapled anastomosis. Patients having the diagnosis changed to Crohn`s diseases had more complications and higher failure rate. Early anastomotic complications were associated with long-term complications. In patients with continent ileostomy the nipple valve sliding is the main cause of revision. One third needed revision once or several times. At 20 years follow-up, half of the patients would need surgery due to complications. Although many patients with CI need several revisions, all patients were continent at the last follow up with a stable intubation frequency of 3 – 5 per 24 hour. The failure of the pelvic pouch is the end of severe complications. Two third of the failures had the pouch excision or permanent ileostomy with the pouch in situ. One third underwent a conversion to CI, with equal surgical and functional outcome as other patients with CI. In IPAA, bowel movements at day were between 5-6 at day and 0-1 at night. The rates of more or less frequent incontinence were about 10%, and 41% and 55% had reported soling at day and night respectively. The long-term functional outcome did not deteriorate with time: ie. observational time, as an independent factor did not influence outcome. Factors influencing the outcome were found but the impact of gender, age, protective stoma, hand-sewn anastomosis and early complications were negligible. Pouchitis did significantly influence functional outcome negatively, but did not create deterioration over time. Estimated pouchitis rate in IPAA was 43% for more than 20 years. The onset of the first pouchitis appears mostly in the 5-6 first years after surgery. The crude rate was 35% and 6% of the patients had chronic pouchitis. Severe/chronic pouchitis was associated with primary sclerosing cholangitis, but not with pyoderma gangrenousum or diagnosed joint affections. Idiopathic pouchitis were absent among patients with familial adenomatous polyposis. In continent ileostomy the rate of pouchitis was 26%. Conclusion The complications in both the pelvic pouch surgery and the surgery of continent ileostomy are considerable. Although not similar the surgical load are in the same order of magnitude. For the continent ileostomy revisional surgery are to be expected. The failure rate of both procedures are high and in long-term similar. The long-term functional outcome are however stabile and excellent. The failed pelvic pouch can be converted to a continent ileostomy in selected and motivated patients. The entity of pouchitis is conflicting and has to be divided into several different entities both on clinical, constitutional and other differentiating features. Patients with PSC should be informed of a possible higher risk of severe and chronic pouchitis after IPAA.

Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. The aim of this thesis was to identify the genotypes causing HCM in northern Sweden, to characterize the disease phenotypes and correlate these findings. Forty-six patients were recruited for the genetic studies (21 women), 11 familial and 35 sporadic cases. Eight sarcomeric protein genes were screened for mutations. A total of 11 different disease causing mutations were found in four genes. Six of the mutations were previously not described. A novel mutation (a 33 base pair deletion) in the troponin I gene was found in one HCM family. Despite the severe genetic defect, the associated phenotype displayed only mild cardiac hypertrophy and few symptoms. Most mutations (64%) were identified in the myosin binding protein C gene, a gene considered to have a low penetrance. Mutations were identified in 10 of 11 familial HCM cases, but only in three of the 35 sporadic cases. It was found that cardiac amyloidosis can sometimes present itself as HCM. Three HCM patients (7%) carried the ATTR Val30Met mutation, also found in Swedish patients with familial amyloid polyneuropathy (FAP). The patients had no symptoms of polyneuropathy, but cardiac amyloidosis as the cause of hypertrophy was verified by myocardial biopsy in an index case. Amyloid heart disease should therefore be considered as a differential diagnosis in patients with HCM. By studying heart rate variability (HRV), it was found that young patients with HCM had signs of autonomic dysfunction, expressed as a reduced HRV. Treatment with beta-blockade attenuated these effects. Abnormal autonomic function might be a substrate for lethal arrhythmias, most often encountered in younger patients with HCM. The results suggest a possible protective effect of beta-blockade, remaining to be studied further. Ventricular function is frequently abnormal in HCM. In particular, diastolic dysfunction has been demonstrated. The recently described myocardial performance index allows the assessment of cardiac function by combining systolic and diastolic performance. We found that patients with hypertrophic cardiomyopathy had evidence of global and regional right ventricular dysfunction, besides left ventricular dysfunction. Hypertrophic cardiomyopathy is traditionally considered to be a disease of the left ventricle. The results show that hypertrophic cardiomyopathy should more be regarded as a biventricular disease. In conclusion, the myosin binding protein C gene is the most common gene causing familial HCM in northern Sweden. This disease gene is considered to be associated with a mild, late-onset disease with ≈50% penetrance at 30 years of age. The low disease penetrance emphasizes the importance of adequate family screening when evaluating patients with HCM, since the familial nature of the disease might easily be overlooked. These particular disease features in northern Sweden contrast to most previous reports, which indicate another disease gene as the most frequent in HCM, associated with a much higher penetrance. Amyloid heart disease, requiring different treatment than HCM, should be kept in mind as a differential diagnosis in the management of patients with HCM. Key words: Hypertrophic cardiomyopathy, genetics, autonomic nervous system, familial amyloid polyneuropathy, echocardiography.

Ce mémoire approfondit les connaissances portant sur le phénomène de l'économie souterraine cubaine, La recherche porte sur l'étude des salariés de l'État dont le domicile est situé dans les municipalités de Cerro et Plaza de la revoluciòn à La Havane. En sus de l'économie souterraine, la recherche traite aussi des classes sociales et du budget familial à Cuba. Ce mémoire comprend une monographie de 45 pages. La recherche a été réalisée à partir d'une enquête de terrain d'une durée de trois mois. Cette enquête à été centrée sur des ménages dont les soutiens reçoivent un salaire de l'État cubain. Elle a débuté par une dizaine d'entrevues exploratoires au cours desquelles le budget familial des ménages a été abordé. Les informations recueillies lors de ces entrevues ont mené à l'élaboration d'un questionnaire couvrant systématiquement les postes de dépenses et les sources de revenus des ménages. Ce questionnaire a servi à la réalisation d'une dizaine d'entrevues additionnelles. Les résultats démontrent que les salariés de l'État reçoivent un salaire insuffisant pour boucler leur budget et qu'ils recourent à l'économie souterraine pour réduire leurs dépenses et augmenter leurs revenus. Les résultats démontrent aussi qu'une part significativement importante de la production de l'économie cubaine se cache dans l'économie souterraine et reste non comptabilisée dans les données officielles. Enfin, l'étude montre que les classes sociales à Cuba ne se limitent pas à une séparation entre les riches qui auraient accès à la monnaie forte et les pauvres confinés à la monnaie faible. Ce sont plutôt la fréquence, la régularité et le montant des revenus de chacun qui déterminent l'appartenance à une classe sociale. En conséquence, l'idée d'une société cubaine à deux niveaux, calquée sur les deux monnaies ayant cours à Cuba, fait place à un cadre d'analyse des classes sociales à partir d'une stratification des revenus. ______________________________________________________________________________ MOTS-CLÉS DE L’AUTEUR : Cuba, Économie souterraine, Classe sociale, Budget familial.

Dans ce mémoire, nous étudions la relation (aussi appelée le « gradient ») qui unit la santé des enfants en bas âge au revenu familial. Ce sujet d'étude en économie de la santé a été plusieurs fois exploré chez les adultes avec des résultats qui tendent à démontrer que les gens disposant d'un revenu plus élevé ont une meilleure santé et, de surcroît, une espérance de vie plus grande que ceux disposant d'un revenu moindre. En cherchant à approfondir la connaissance du sujet, les chercheurs se sont naturellement intéressés à l'impact du revenu familial sur la santé des enfants. Case et alii (USA 2002) ont récemment proposé une démarche et des techniques afin de vérifier, d'abord, si le gradient existe et, ensuite, de mesurer la profondeur de son influence sur le développement des jeunes enfants. En nous aidant de l'enquête longitudinale du développement des enfants du Québec (l'ELDEQ 1998) et en suivant une démarche semblable à celle proposée par Case et alii, nous observons l'existence d'un gradient faible selon lequel la santé des nouveaux-nés québécois est affectée positivement par le revenu familial.

Reproduction de : Thèse de doctorat : Médecine. Biologie moléculaire et cellulaire : Nantes : 2008. / Bibliogr.

The primary purpose of the present review was to determine why conflicting findings have been reported regarding the long-term effects of phonological awareness training for children from low socioeconomic status families (low-SES) and children with familial risk for reading impairment. Four aspects of intervention were analyzed for each of the studies: service delivery, content of intervention, length of sessions, and total number of sessions. The second purpose of the review was to determine which aspects of intervention had the largest effect on improving later reading skills as well as if general aspects were beneficial to both at-risk groups or if there were population-specific factors. A total of ten intervention studies, five involving children from low-SES and five involving children with familial risk for reading impairment, were reviewed. Of the ten interventions reviewed, only three interventions, two involving children from low-SES and one involving children at familial risk for reading impairment, demonstrated successful long-term effects on reading. The remaining interventions demonstrated differences across the four aspects analyzed and conflicting long-term outcomes. As no population specific factors were observed across studies, the similarities found in the three successful interventions suggest that a general intervention program can be beneficial for both populations of at-risk children. / text

This study investigates the influence of family structure during adolescent on college entry and success using the more recently available Postsecondary Education Transcript Study (PETS) data of the High School and Beyond (HS&B) sophomore cohort to predict college entry, baccalaureate degree completion, and persistence in the science, math, technology, and engineering pipeline at the collegiate level. I propose that family structure not only influences adolescents' preparation for higher education, but also their ability to commit to and persevere within higher education. While traditional studies of student achievement and persistence have focused on socioeconomic status or academic ability, I explore family dynamics in attempting to explain the disadvantage adolescents from non-intact families experience within higher education. While controlling for family income and parents education, this study specifically explores parental involvement, parent's educational aspirations, and family disruption as potential mechanisms that might account for the disadvantage adolescents from non-intact families experience in terms of higher education. The findings in this study indicate that single parent families and stepparent families should be analyzed as distinct groups for greater accuracy and understanding. Moreover, parental involvement, turbulence, and parental expectations as measured in high school influence the life course of young adults in their postsecondary pursuits. The present study contributes significantly to our understanding of families, family processes and higher education conceptually, and its findings have implications for education policy. / text

This dissertation consists of a collection of sixty pages of poetry of various styles and forms, predominately in free verse. Subject matter includes family and relationships, especially between women of different generations; history, both personal/family and public; language; means of handling grief and death; travel and return; and sense of place/home. As a writer, I often find myself taking moments from my own life and transforming them into poems. All language fascinates me, especially words that are closely tied to the culture from which they emerge. Several poems in the collection rely on unusual, untranslatable, or forgotten words. These poems explore the relationships between place, history, culture, and language. All of these are intertwined, and it is often difficult to extract one element and study it discretely from the rest. Additionally, history, both collective and personal, often provides a stimulus for my poems and is useful in bridging the gap between personal memories and associations and those of the reading audience. I often approach the past through photographs, physical objects, or landscapes, or share stories of my own family’s history. Many of these poems are about questioning one’s own ancestry. I create myths about myself and others, often my own family and ancestors, building a story around a particular truth. In these poems, I rewrite my own history and experiences.

Due to the common belief that language is unique to humans, great emphasis has been placed on the neocortex, while the role of the subcortical areas has been minimized. This project used event-related functional magnetic resonance imaging (fMRI) to study the linguistic involvement of the basal ganglia (BG). Previous research has demonstrated that the BG are implicated in building up sequences of behavior into meaningful, goal-directed repertoires This study developed the idea of motor sequencing into linguistic sequencing to test the BG's involvement in the abstract sequencing of language. Since past imaging studies failed to present a coherent picture of the BG laterality, which might be due to the absence of the control for subjects' familial handedness background, this subject factor was also investigated.Twenty-four right-handed, neurologically healthy English speakers were recruited. Half of them had left-handed blood relatives (FS+); the other half did not (FS-). Their tasks included 1) linguistic sequencing--reordering phrases into a sentence or reordering words along the general-specific dimension, 2) non-linguistic sequencing--swapping designated phrases/words and 3) repeat--repeating words in their original sequence. Voxel-wise analysis showed that both the BG and cortical areas were activated when subjects performed a reordering task. Region of interest (ROI) analysis demonstrated that the BG were involved in linguistic sequencing (reorder - repeat) and that Broca's area and the caudate head were co-opted in computing hierarchical structure (reorder - swap). Although familial sinistrality did not alter the activation pattern of Broca's area and the caudate head, it played a role in their activation asymmetry: both subject groups had left-lateralization in the inferior frontal gyrus, but they failed to show identical laterality in the BG. A possible explanation based on the direct and indirect pathways in the BG was offered and the laterality discrepancy was attributed to these two groups' different time course of language acquisition.To summarize, this study suggested that the BG, especially the head of the caudate nucleus, were involved in the abstract sequencing of language and that the distinct brain asymmetry associated with different familial sinistrality background might be rooted in the BG.

Diss. (sammanfattning) Umeå : Univ., 2004. / Härtill 5 uppsatser.