Low thymic output in the 22q11.2 deletion syndrome measured by CCR9+CD45RA+ T cell counts and T cell receptor rearrangement excision circles.

Thymic hypoplasia is a frequent feature of the 22q11.2 deletion syndrome, but we know little about patients' age-related thymic output and long-term consequences for their immune system. We measured the expression of T cell receptor rearrangement excision circles (TREC) and used flow cytometry for direct subtyping of recent thymic emigrant (RTE)-related T cells in 43 patients (aged 1-54 years; median 9 years) from all over Norway and in age-matched healthy controls.

Genetic epidemiology of Charcot-Marie-Tooth in the general population.

Background And Purpose: the frequency of different Charcot-Marie-Tooth (CMT) genotypes has been estimated in clinic populations, but prevalence data from the general population are lacking.

Methods: our population-based genetic epidemiological survey included persons with CMT residing in eastern Akershus County, Norway. The participants were interviewed and examined by one geneticist/neurologist and classified clinically, neurophysiologically and genetically.

Two novel missense mutations in the myelin protein zero gene causes Charcot-Marie-Tooth type 2 and Déjérine-Sottas syndrome.

Background: The Charcot-Marie-Tooth (CMT) phenotype caused by mutation in the myelin protein zero (MPZ) gene varies considerably, from early onset and severe forms to late onset and milder forms. The mechanism is not well understood. The myelin protein zero (P0) mediates adhesion in the spiral wraps of the Schwann cell's myelin sheath.

MFN2 point mutations occur in 3.4% of Charcot-Marie-Tooth families. An investigation of 232 Norwegian CMT families.

Background: Point mutations in the mitofusin 2 (MFN2) gene has been identified exclusively in Charcot-Marie-Tooth type 2 (CMT2), and in a single family with intermediate CMT. MFN2 point mutations are probably the most common cause of CMT2.

Methods: Two-hundred and thirty-two consecutive unselected and unrelated CMT families with available DNA from all regions in Norway were included.

The severity of dependence score correlates with medication overuse in persons with secondary chronic headaches. The Akershus study of chronic headache.

The objective was to compare the Severity of Dependence Scale (SDS) score and pattern of medication use in persons with secondary chronic headache (>or= 15 days/month for at least 3 months) in a cross-sectional epidemiological survey. A posted questionnaire screened for chronic headache. Neurological residents interviewed those with self-reported chronic headache.

Differences in protein expression and gene amplification of cyclins between colon and rectal adenocarcinomas.

Adenocarcinomas of rectum and colon may be different with regard to the cellular biological basis for cancer development. A material of 246 rectal cancers removed surgically at Akershus University Hospital in the years 1992-2000 was investigated and was compared to a material of 219 colon cancers operated on at Akershus University Hospital during the years 1988, 1990 and 1997-2000. There were highly significant differences between the rectal and the colon cancers in the protein expression of cyclin D1, cyclin D3, cyclin E, nuclear beta-catenin, and c-Myc and in gene amplification of cyclin A2, cyclin B1, cyclin D1, and cyclin E.

Widespread but not localized neoplasia in inflammatory bowel disease worsens the prognosis of colorectal cancer.

Background: Patients with inflammatory bowel disease (IBD) are at increased risk of colorectal cancer (CRC). Recently, new phenotypes of CRC in IBD have been suggested. Studies of the prognosis of CRC in IBD have shown conflicting results.

External fixation compared to intramedullary nailing of tibial fractures in the rat.

Background And Purpose: It is not known whether there is a difference in bone healing after external fixation and after intramedullary nailing. We therefore compared fracture healing in rats after these two procedures.

Methods: 40 male rats were subjected to a standardized tibial shaft osteotomy and were randomly assigned to 2 treatment groups: external fixation or intramedullary nailing.

No association between DGKH and bipolar disorder in a Scandinavian case-control sample.

Single nucleotide polymorphisms (SNPs) in diacylglycerol kinase eta (DGKH) have recently been shown to be associated with bipolar disorder (BD). To replicate this finding, we carried out a gene-wide genotyping of 36 tagSNPs in DGKH and performed a population-based association study on two Scandinavian samples, with successful genotyping of 594 BD cases and 1421 healthy controls. We found no significant association after multiple-testing correction between any of these SNPs and BD in our sample.

Two distinct groups of colorectal cancer in inflammatory bowel disease.

Background: The histological variability in colitis-associated colorectal cancer (CRC in inflammatory bowel disease [IBD]) and the association to clinical factors is unknown.

Methods: In population-based material including 67 patients with CRC in IBD, histopathology of the cancers and tissue samples from different colorectal localizations were reevaluated, and relationships to clinical factors analyzed.

Results: Forty-three of 60 patients (75%) showed dysplasia in the colorectum apart from the cancer, while 17 (25%) had no dysplasia at cancer diagnosis.

Placenta weight in pre-eclampsia.

Objective: Preterm and term pre-eclampsia may differ in etiology. This could be reflected in differences in placenta weight. Therefore, we compared placenta weight in pregnancies with preterm or term pre-eclampsia to placenta weight in pregnancies without pre-eclampsia.

Impact of respiratory symptoms on lung cancer: 30-year follow-up of an urban population.

We investigated the relationship between respiratory symptoms reported at one time and incidence of lung cancer the subsequent 30 years in an urban Norwegian population. A cohort of 19,998 persons, aged 15-70 years living in Oslo, was randomly selected for a respiratory survey in 1972. The response-rate was 89% and 17,670 respondents were followed up.

Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.

Background: X-linked Charcot-Marie Tooth (CMT) is caused by mutations in the connexin32 gene that encodes a polypeptide which is arranged in hexameric array and form gap junctions.

Methods: We describe two novel mutations in the connexin32 gene in two Norwegian families.

Results: Family 1 had a c.

Whole blood gene expression in infants with respiratory syncytial virus bronchiolitis.

Background: Respiratory syncytial virus (RSV) is a major cause of viral bronchiolitis in infants worldwide, and environmental, viral and host factors are all of importance for disease susceptibility and severity. To study the systemic host response to this disease we used the microarray technology to measure mRNA gene expression levels in whole blood of five male infants hospitalised with acute RSV, subtype B, bronchiolitis versus five one year old male controls exposed to RSV during infancy without bronchiolitis. The gene expression levels were further evaluated in a new experiment using quantitative real-time polymerase chain reaction (QRT-PCR) both in the five infants selected for microarray and in 13 other infants hospitalised with the same disease.

Symptomatic Charcot-Marie-Tooth? A pair of concordant monozygotic twins.

Background: A pair of monozygotic twin brothers were referred due to hereditary peripheral neuropathy resembling late onset Charcot-Marie-Tooth (CMT).

Aim Of The Study: Diagnostic classification of the twin pair.

Method: Clinical, neurological, genetical and neurophysiological examination, and molecular genetic testing.

Clinical and laboratory diagnostics of cardiovascular disease: focus on natriuretic peptides and cardiac ischemia.

Chest pain is the most common clinical presentation of acute ischemic heart disease, but only one third of these patients are ultimately found to have an acute coronary syndrome. Initial assessment of the patient presenting with chest pain includes a careful history, physical examination, an initial electrocardiogram (ECG) and measurement of biochemical markers of myocardial injury. The natriuretic peptide system is activated in a broad spectrum of cardiovascular diseases, including acute coronary syndromes and stable coronary disease.

Hospitalisations for respiratory syncytial virus bronchiolitis in Akershus, Norway, 1993-2000: a population-based retrospective study.

Background: RSV is recognized as the most important cause of serious lower respiratory tract illness in infants and young children worldwide leading to hospitalisation in a great number of cases, especially in certain high-risk groups. The aims of the present study were to identify risk groups, outcome and incidences of hospitalisation for RSV bronchiolitis in Norwegian children under two years of age and to compare the results with other studies.

Methods: We performed a population-based retrospective survey for the period 1993-2000 in children under two years of age hospitalised for RSV bronchiolitis.