Completeness and correctness of registration of renal pelvic and ureteral cancer in the Swedish Cancer Registry.

Objective: To study the completeness and correctness of the Swedish Cancer Registry (SCR) for renal pelvic and ureteral carcinomas diagnosed in western Sweden.

Material And Methods: We performed a retrospective clinical and histopathological study of 939 patients in the SCR with a diagnosis of a renal pelvic or ureteral carcinoma between 1971 and 1998 and of 54 patients with a diagnosis of tumors in multiple locations in the urinary tract. In addition, we reviewed our earlier bladder cancer studies to assess whether patients with upper urinary tract tumors had been notified to the SCR.

Altered transforming growth factor-beta pathway expression pattern in rat endometrial cancer.

Endometrial cancer is the most abundant female gynecologic malignancy, ranking fourth in incidence among invasive tumors in women. Females of the BDII inbred rat strain are extremely prone to endometrial adenocarcinoma (EAC), and approximately 90% of virgin females spontaneously develop EAC during their lifetime. Thus, these rats serve as a useful model for the genetic analysis of this malignancy.

IA-2 autoantibodies in incident type I diabetes patients are associated with a polyadenylation signal polymorphism in GIMAP5.

In a large case-control study of Swedish incident type I diabetes patients and controls, 0-34 years of age, we tested the hypothesis that the GIMAP5 gene, a key genetic factor for lymphopenia in spontaneous BioBreeding rat diabetes, is associated with type I diabetes; with islet autoantibodies in incident type I diabetes patients or with age at clinical onset in incident type I diabetes patients. Initial scans of allelic association were followed by more detailed logistic regression modeling that adjusted for known type I diabetes risk factors and potential confounding variables. The single nucleotide polymorphism (SNP) rs6598, located in a polyadenylation signal of GIMAP5, was associated with the presence of significant levels of IA-2 autoantibodies in the type I diabetes patients.

SUMO4 M55V polymorphism affects susceptibility to type I diabetes in HLA DR3- and DR4-positive Swedish patients.

SUMO4 M55V, located in IDDM5, has been a focus for debate because of its association to type I diabetes (TIDM) in Asians but not in Caucasians. The current study aims to test the significance of M55V association to TIDM in a large cohort of Swedish Caucasians, and to test whether M55V is associated in those carrying human leukocyte antigen (HLA) class II molecules. A total of 673 TIDM patients and 535 age- and sex-matched healthy controls were included in the study.

Artifactual dendritic beading in rat spinal cord induced by perfusion with cold saline and paraformaldehyde.

Extensive dendritic beading of MAP2 (microtubule-associated protein 2) immunoreactivity has previously been observed in the contused rat spinal cord. However, we have also observed dendritic beading in occasional uninjured animals. The purpose of this study was to examine the possibility that perfusion conditions contributed to the dendritic beading.

Photochemical scar ablation in chronically contused spinal cord of rat.

Glial scar represents a physical and molecular barrier to axonal regeneration and has become an important target for regeneration research in chronic spinal cord injury. Although many methods have been proven useful for the prevention of scar formation in an acute injury model, to date no effective method has been described to remove an existing glial scar in a chronic injury. The chronic lesion possesses an irregular shaped scar that lines the entire perimeter of the cavity.

Multiplex ligation-dependent probe amplification improves diagnostics in spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by decreased levels of survival motor neuron protein (SMN). In the majority of cases, this decrease is due to absence of the SMN1 gene. Multiplex ligation-dependent probe amplification (MLPA) is a modern quantitative molecular method.

Simvastatin promotes neurite outgrowth in the presence of inhibitory molecules found in central nervous system injury.

Statins (3-hydroxy-3-methylglutaryl-CoA [HMG-CoA] reductase inhibitors) inhibit the rate-limiting step in the mevalonate pathway, conversion of HMG-CoA to mevalonate, by competitive inhibition with the enzyme HMG-CoA reductase. Statins not only lower cholesterol levels, but are also thought to exert neuroprotective and neurogenic effects that may be beneficial in treating brain and spinal cord injuries. Data presented here illustrate that simvastatin enables neurite outgrowth in the presence of growth-inhibitory molecules commonly found at central nervous system (CNS) injury sites.

GABA-site antagonism and pentobarbital actions do not depend on the alpha-subunit type in the recombinant rat GABA receptor.

Aim: The roles of alpha-subunits on the gamma-aminobutyric acid (GABA)-site antagonism and pentobarbital actions were examined in rat recombinant GABA(A) receptors in Xenopus oocytes.

Methods: Experiments were performed with binary and ternary GABA(A) receptors containing alpha1-, alpha4- or alpha5-subunit by the two-electrode voltage-clamp technique.

Results: The potency of GABA was significantly higher in the alpha1beta2, alpha4beta2 and alpha5beta2 receptors compared with the alpha1beta2gamma2L, alpha4beta2gamma2L and alpha5beta2gamma2L receptors.

Attitude towards remission induction for elderly patients with acute myeloid leukemia influences survival.

Combination chemotherapy may induce remission from acute myeloid leukemia (AML), but validated criteria for treatment of elderly are lacking. The remission intention (RI) rate for elderly patients, as reported to the Swedish Leukemia Registry, was known to be different when comparing the six health care regions, but the consequences of different management are unknown. The Leukemia Registry, containing 1672 AML patients diagnosed between 1997 and 2001, with 98% coverage and a median follow-up of 4 years, was completed with data from the compulsory cancer and population registries.

Improved survival with clinical guidelines? Evaluation of a quality register linked to clinical guidelines for ovarian cancer in the western health care region in Sweden between 1 September 1993 and 1 June 1998.

Background: New clinical guidelines (CGs) for ovarian cancer in the western health care region in Sweden were established, beginning in September 1993 and still in effect.

Methods: A retrospective evaluation of 5 years of quality registration linked to CGs for ovarian cancer in this region was undertaken. The study material comprised 718 patients.

Increased levels of GFAP in the cerebrospinal fluid in three subtypes of genetically confirmed Alexander disease.

GFAP levels in the CSF were highly elevated in three genetically confirmed cases of Alexander disease clinically conforming with infantile, early and late juvenile forms. No other CSF abnormalities were detected. Assay of CSF-GFAP may prove to be a rapid and cost-effective screening test in clinical variants of Alexander disease and an indicator of GFAP gene mutations.

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic techniques, Spectral karyotyping (SKY), and FISH failed to detect abnormalities. We performed a high resolution genome-wide screening for submicroscopic chromosomal rearrangements using array-CGH on 41 children with idiopathic mental retardation (MR) and dysmorphic features.

The impact of reproductive factors on breast cancer risk--the feasibility of using Swedish population-based registers to account for the effect of confounding in cohort studies.

Objective: The aim of this study was to analyze the impact of reproductive factors on breast cancer risk among Swedish women by using nationwide population registers.

Methods: A cohort including all Swedish women born between 1920 and 1959 was followed up to 1997 by record linkage to different population-based registers. More than 4 million children were linked to the women in the cohort and 60,328 women were diagnosed with breast cancer.

X-irradiation reduces lesion scarring at the contusion site of adult rat spinal cord.

Spinal cord injury (SCI) results in cell death and tissue destruction, and ultimately cavitation followed by the formation of lesion scars at the injury site. The lesion scars include an astrocytic component (glial scar) and a fibroblastic component (connective tissue scar). The purpose of the present study is to determine if X-irradiation could minimize the formation of lesion scars and reduce the levels of chondroitin sulfate proteoglycans (CSPGs) in the contusion SCI model of the adult rat.

Identification of genomic deletions of the APC gene in familial adenomatous polyposis by two independent quantitative techniques.

Large deletions in the APC (adenomatous polyposis coli) gene, causing familial adenomatous polyposis (FAP), cannot easily be detected by conventional mutation-detection techniques. Therefore, we have developed two independent quantitative methods for the detection of large deletions, encompassing one or more exons, of APC. Multiplex ligation-dependent probe amplification (MLPA) is performed in one reaction for the initial quantification of all APC exon copy numbers.

A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.

Unlabelled: The pyruvate dehydrogenase complex (PDHc; McKusick 312170), localised in the mitochondrial matrix, is a multienzyme complex which converts pyruvate to acetyl-CoA. A deficiency of PDHc leads to inadequate removal of pyruvate and lactate resulting in lactic acidaemia and insufficient energy production. The major cause of PDHc deficiency is a defect in the E1alpha component.

Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome.

Kabuki syndrome (KS) is a rare multiple congenital anomaly/mental retardation syndrome. It is characterized by a distinct facial appearance, mental retardation, postnatal growth retardation, skeletal anomalies, unusual dermatoglyphics and fetal fingertip pads. It has previously been speculated that KS is caused by a microdeletion or duplication.

The incidence and survival of acute de novo leukaemias in Estonia and in a well defined region of Western Sweden during 1982-1996: a survey of patients aged 16-64 years.

In the present work the incidence and survival of acute de novo leukaemias in two neighbouring countries, were studied retrospectively over three 5-year periods, 1982-1996. The aim was to compare the above variables, particularly with respect to political/socio-economic and environmental factors, in a well defined area of Sweden, the so-called Western Swedish Health Care Region, with Estonia. Population-wise the Western Swedish Region and Estonia are very similar; area-wise they are also well comparable.

Randomized controlled trial of prophylactic repair of hemodialysis arteriovenous graft stenosis.

Background: Previous nonrandomized studies suggest that prophylactic repair of hemodialyisis arteriovenous (AV) graft stenosis reduces thrombosis rates and increases cumulative graft survival. The present study is a randomized trial comparing prophylactic repair of AV graft stenosis with repair at the time of thrombosis.

Methods: Sixty-four patients with elevated static venous pressure measured in an upper extremity AV graft were randomized to Intervention or Observation.

The incidence and survival of acute de novo leukaemias in Estonia and in a well-defined region of western Sweden during 1982-1996: a survey of patients aged > or =65 years.

Objectives: To compare the incidence and survival of acute de novo leukaemias with particular reference to political/socio-economic and environmental factors in two neighbouring countries over the three 5-year periods (1982-1996).

Patients: The present report covers only patients diagnosed when aged > or =65 years.

Setting: A well-defined area of Sweden, the so-called Western Swedish Health Care Region and Estonia.

Cancer and oral lichen planus in a Swedish population.

Oral lichen planus (OLP) is generally regarded as a premalignant condition. The objective of the present study was to assess the number of oral malignant tumours in a retrospective analysis of 1028 patients (mean age=55 years; range=18-86; female, n=667; men, n=351) who between 1978 to end of 1993 were diagnosed with OLP at the Faculty of Odontology, Göteborg University, Sweden. Patients with malignant tumours were identified through the Swedish Cancer Registry at the National Board of Health and Welfare, which annually reports the incidence of malignant neoplasms in the Swedish population.

Aerodynamic and acoustic voice measurements of patients with vocal nodules: variation in baseline and changes across voice therapy.

An important clinical issue concerns the efficacy of current voice therapy approaches in treating voice disorders, such as vocal nodules. Much research focuses on finding reliable methods for documentation of treatment results. In this second treatment study of ten patients with vocal nodules, who participated in a behaviorally based voice therapy program, 11 aerodynamic (transglottal air pressure and glottal waveform) and acoustic (spl, f0, and spectrum slope) measures were used.