A comparative study of two grading systems for epistaxis in hereditary haemorrhagic telangiectasia.

BACKGROUND: Different institutions use different grading systems for hereditary haemorrhagic telangiectasia (HHT)-associated epistaxis. It is important to have a universal, standardized grading system to compare and evaluate the effectiveness of different treatment options. We introduced the "Intensity, Frequency and need for Blood Transfusion" (IFT) grading system for HHT-associated epistaxis in 2008. Hoag et al. proposed the "Epistaxis Severity Score" (ESS) for the International HHT foundation in 2010. This study aimed to evaluate the potential correlation between the ESS and IFT grading systems. METHODS: The study included 354 simultaneous reports using the IFT and ESS from 106 patients. The correlation between the ESS, IFT and haemoglobin levels was measured using Pearson's correlation coefficient. The ESS and IFT were scored simultaneously by the patient and doctor in 48 cases to evaluate if there was a discrepancy in the scoring applied by either set of responders. RESULTS: The measured correlation between the two grading systems was good (0.75). The grade of epistaxis reported by patients and doctors respectively showed no significant difference. Both the IFT and ESS grading systems correlate significantly to the haemoglobin level. CONCLUSIONS: Both the IFT and ESS scores correlate to each other, and their results are comparable. Whether the IFT or ESS scoring was performed by the patient or doctor had no significant impact.

Minimally invasive diagnosis of sarcoidosis by EBUS when conventional diagnostics fail.

BACKGROUND: Endobronchial ultrasound-guided transbronchial fine-needle aspiration (EBUS) is a minimally invasive method used routinely for mediastinal staging of patients with lung cancer. EBUS has also proved to be a valuable diagnostic tool for patients with different intrathoracic lesions who remain undiagnosed despite bronchoscopy and CT-guided fine-needle aspiration. OBJECTIVE: The present study focused on EBUS for diagnosing sarcoidosis. DESIGN: During a 3-year period 308 of 601 patients who underwent EBUS at our institution were referred for further diagnostic of a radiologically suspicious lesion in the lung parenchyma (n = 195), enlarged lymph nodes in the mediastinum (n = 89), a suspicious tumor in the mediastinum or pleural disease (n = 24) but no one had a definite histological diagnosis. All charts were reviewed retrospectively. RESULTS: Of the 308 patients 43 (14%) were eventually diagnosed with sarcoidosis. Thirty-three (77%) were diagnosed with EBUS. In the remaining 10 patients EBUS did not provide adequate tissue samples in 4 (9%) and in 6 patients (14%) EBUS provided adequate tissue but no definite diagnosis. EBUS was significantly better to establish the diagnosis in patients with enlarged mediastinal lymph nodes compared with isolated lung parenchymal involvement (85% vs 63%, p < 0.05). CONCLUSION: EBUS is a valuable minimally invasive diagnostic modality to establish the diagnosis of sarcoidosis of unselected patients with undiagnosed intrathoracic lesions after conventional work up--particularly if patients have enlarged mediastinal lymph nodes. This minimally invasive procedure provides a final diagnosis without exposing the patient to the risk of complications from more invasive procedures.

Sexual maturity cycle and spawning of Greenland halibut Reinhardtius hippoglossoides in the Davis Strait.

Female sexual maturation cycle and the main spawning time of Greenland halibut Reinhardtius hippoglossoides in the Davis Strait were studied through regularly collected samples during 1 year starting in spring 2003. Samples were collected from the southern slope of the Davis Strait Ridge between Canada and Greenland in the depth range 1000-1500 m. Female sexual maturation was described using different approaches: gonado-somatic index, visual macroscopic maturity stage index, histological microscopic maturity index and oocyte diameter measurements. A significant increase in the gonado-somatic index was seen from September onwards until February with a maximum estimated value of 18%. The proportion of mature fish increased from December until March. At the same time, the proportion of females with a low gonado-somatic index also increased from February, indicating that spawning had occurred and females were recovering. Oocyte diameter distribution revealed a leading cohort development during autumn through to December to February. A coupling between sexual maturity and fish condition was seen for females in maturing condition indicating a steady build up of stored energy in the liver from June to November.

Erythropoietin in patients with aneurysmal subarachnoid haemorrhage: a double blind randomised clinical trial.

BACKGROUND: Erythropoietin (EPO) is neuroprotective in experimental models of stroke and subarachnoid haemorrhage (SAH) and possibly in patients with thromboembolic stroke. We studied the efficacy and safety of EPO in patients with SAH. METHODS: A larger scale clinical trial was planned but preliminarily terminated because of a lower than expected inclusion rate. However, 73 patients were randomised to treatment with EPO (500 IU/kg/day for three days) or placebo. The primary endpoint was Glasgow Outcome Score at six months. We further studied surrogate measures of secondary ischaemia, i.e. transcranial Doppler (TCD) flow velocity, symptomatic vasospasm, cerebral metabolism (microdialysis) and jugular venous oximetry, biochemical markers of brain damage (S-100beta and neuron specific enolase) and blood-brain barrier integrity. FINDINGS: The limited sample size precluded our primary hypotheses being verified and refuted. However, data from this study are important for any other study of SAH and as much raw data as possible are presented and can be included in future meta analyses. On admission the proportion of patients in a poor condition was higher in the EPO group compared with the placebo group but the difference was statistically insignificant. In the EPO-treated patients the CSF concentration of EPO increased 600-fold. Except for a higher extracelullar concentration of glycerol in the EPO group probably caused by the poorer clinical condition of these patients, there were no statistically significant group differences in the primary or secondary outcome measures. EPO was well tolerated. CONCLUSIONS: Beneficial effects of EPO in patients with SAH cannot be excluded or concluded on the basis of this study and larger scale trials are warranted.

The apolipoprotein E epsilon4-allele and antihypertensive treatment are associated with increased risk of cerebral MRI white matter hyperintensities.

OBJECTIVE: Apolipoprotein E-epsilon4 (APOE-epsilon4) is a potential risk factor for cerebral vascular disease. The aim of the present study was to examine the relative importance of APOE-epsilon4 and other relevant risk factors for the extent of cerebral white matter hyperintensity (WMH) in a community-based sample of elderly subjects. MATERIALS AND METHODS: From a cohort of 976 subjects born in 1914, APOE genotype was determined and MRI examinations were carried out in 75 subjects. WMH were rated using a standard semi-quantitative method. ANOVA and regression analyses were conducted to explore the relative importance of the potential risk factors. RESULTS: APOE genotype and antihypertensive treatment were significantly associated with severity of total WMH load (P < 0.05). CONCLUSIONS: The study confirmed the association between APOE-epsilon4 and WMH. Pharmaceutical treatment for arterial hypertension was also associated with the total burden of WMH in this study.

No association between the -399 C > T polymorphism of the neuropeptide Y gene and schizophrenia, unipolar depression or panic disorder in a Danish population.

OBJECTIVE: A polymorphism in the promoter region of the NPY gene at position -399 C > T was recently reported to be associated with schizophrenia in a Japanese population and with treatment refractory unipolar depression in a Swedish population. The objective of this study was to investigate potential associations between the polymorphism and three psychiatric disorders in a Danish population. METHOD: We investigated the occurrence of the polymorphism in patients with schizophrenia (n = 291), unipolar depression (n = 256) and panic disorder (n = 142) compared with controls (n = 716). RESULTS: We detected the polymorphism -399 C > T at a frequency of 48% in controls. No significant differences were found between genotype or allele frequencies in controls vs. the patient groups. CONCLUSION: The lack of association between the -399 C > T polymorphism and schizophrenia, unipolar depression or panic disorder, respectively, suggests that the polymorphism is not involved in the etiology of these disorders in the Danish population.

Quantitative trait loci controlling vernalisation requirement, heading time and number of panicles in meadow fescue (Festuca pratensis Huds.).

The "BF14/16xHF2/7" mapping population of meadow fescue (Festuca pratensis Huds.) was characterised for number of panicles produced by non-vernalised plants in the field, vernalisation requirement (number of weeks at 6 degrees C and 8 h photoperiod), as well as days to heading, number of panicles and proportion of shoots heading after a 12 weeks vernalisation treatment. Quantitative trait loci (QTLs) were identified and compared to QTLs and genes related to the induction of flowering in cereals and grasses. A region on chromosome 1F affected days to heading and the proportion of shoots heading. Chromosome 4F appeared to have several genes with a strong effect on vernalisation requirement. The strongest effects were located in the proximal end of 4F and may correspond to the earliness per se (eps) QTL eps6L.2 in barley and a heading time QTL in perennial ryegrass. A part of the meadow fescue orthologue of VRN1 was sequenced and mapped to another region of 4F that also had a strong effect on vernalisation requirement. The proximal end of chromosome 5F had QTLs for days to heading and proportion of heading shoots. Syntenic regions in wheat and barley contain eps-loci. A QTL for number of panicles in the field and a QTL for proportion of heading shoots were present on chromosome 6. A region on 7F affected the variation in number of panicles among plants without a vernalisation requirement, and is syntenic to regions in perennial ryegrass, barley and rice containing orthologues of Arabidopsis thaliana CO.

Randomized study of biennial screening with a faecal occult blood test: results after nine screening rounds.

BACKGROUND: Two large true population studies in Europe have shown a significant reduction in mortality from colorectal cancer (CRC) by screening with a faecal occult blood test. In one trial conducted in Funen County, 61,933 individuals (aged 45-75 years) were randomly allocated either to a control group or to receive a biennial Hemoccult-II test. METHODS: These individuals were followed from 1985 to 2002 and 9 screening rounds were performed. RESULTS: First screening was accepted by 67% (20,672). Positivity rates varied between 0.8% and 3.8%, and the cumulative proportion of the test group having colonoscopy was 5.3%. Screen-detected CRC was early (Dukes' A) in 36% compared to 11% among controls. Incidence of CRC was unchanged, but mortality was reduced by 11%. This figure increased to 43% in persons participating in all 9 rounds. No more than 8,558 were screened at the 9th round. Patients with CRC detected between screenings had better survival than controls. Death rates from causes other than CRC among participants never became higher than among controls. CONCLUSION: The lesser reduction in mortality from CRC of 11% compared to 18% after 5 screening rounds may be explained by the decrease in the number screened. Efficacy in those screened supports the introduction of countrywide screening in Denmark, but it must be ascertained that acceptability, proportion of early CRC and logistics all reach the same standard as in the randomized trial.

Cellulosic building insulation versus mineral wool, fiberglass or perlite: installer's exposure by inhalation of fibers, dust, endotoxin and fire-retardant additives.

A task-specific exposure matrix was designed for workers installing building insulation materials. A priori, a matrix element was defined by type of task (installer or helper), type of work area (attic spaces or wall cavities) and type of insulation material (slabs from mineral wool, fiberglass or flax; loose-fill cellulosic material or perlite). In the laboratory a mock-up (full scale) of a one-family house was used for simulated installation of insulation materials (four replicates per matrix element). Personal exposure to dust and fibers was measured. The dust was analyzed for content of endotoxin and some trace elements (boron and aluminum) from fire-retardant or mold-resistant additives. Fibers were characterized as WHO fibers or non-WHO fibers. In support of the exposure matrix, the dustiness of all the materials was measured in a rotating drum tester. For installers in attic spaces, risk of exposure was low for inhalation of dust and WHO fibers from slab materials of mineral wool or fiberglass. Slab materials from flax may cause high risk of exposure to endotoxin. The risk of exposure by inhalation of dust from loose-fill materials was high for installers in attic spaces and for some of the materials risk of exposure was high for boron and aluminum. Exposure by inhalation of cellulosic WHO fibers was high but little is known about the health effects and a risk assessment is not possible. For the insulation of walls, the risk of installers' exposure by inhalation of dust and fibers was low for the slab materials, while a high risk was observed for loose-fill materials. The exposure to WHO fibers was positively correlated to the dust exposure. A dust level of 6.1 mg/m3 was shown to be useful as a proxy for screening exposure to WHO fibers in excess of 10(6) fibers/m3. In the rotating drum, slabs of insulation material from mineral wool or fiberglass were tested as not dusty. Cellulosic loose-fill materials were tested as very dusty, and perlite proved to be extremely dusty.

Disease severity in Danish multiple sclerosis patients evaluated by MRI and three genetic markers (HLA-DRB1*1501, CCR5 deletion mutation, apolipoprotein E).

As the understanding of the autoimmune inflammatory response in multiple sclerosis (MS) expands, polymorphic genes involved in this process become possible candidates that may determine the severity of disease. Therefore, three candidate genes DRB1*1501, CCR5 and apolipoprotein E (APOE) were examined in a population-based patient sample (n = 70) to assess an association between disease progression measured by clinical disability and MRI parameters. The total lesion area (TLA) on T2-weighted images was measured with a semi-automated threshold technique. Patients with the CCR5delta32 allele showed a non-significant trend towards a smaller lesion burden (TLA/years duration), but were not associated to a milder EDSS/years duration. Our data support previous assumptions of a modulation of severity in MS by the CCR5delta32 genotype, which may convey less inflammation and tissue destruction. Carriers of the DRB1*1501 and APOE-epsilon4 allels did not reveal more severe disease progression, neither by the EDSS/years of duration nor by the TLA/years duration. This study was performed on a population-based sample in a genetically homogeneous Danish population but, due to the limited number of patients examined, weak associations between candidate genes and disease variables cannot be excluded.

A randomised study of screening for colorectal cancer using faecal occult blood testing: results after 13 years and seven biennial screening rounds.

BACKGROUND: Three randomised trials have demonstrated reduction in mortality from colorectal cancer (CRC) by repeated screening with faecal occult blood tests, including the trial presented here, which is the only one still in progress. AIMS: To evaluate reduction in mortality after seven screening rounds and the possible influence of compliance on mortality from CRC. METHODS: At Funen in Denmark, random allocation to biennial screening with Hemoccult-II in 30 967 subjects aged 45-75 years and 30,966 controls was performed in 1985 from a population of 137,485 of the same age. Only participants who completed the first screening round were invited for further screening. Colonoscopy was offered if the test was positive. The primary end point was death from CRC, and the 10 year results were published in 1996. RESULTS: From the beginning of the first screening to the seventh round, mean age increased from 59.8 to 70.0 years in the screening and control groups, and the male/female ratio decreased from 0.92 to 0.81. Those who accepted screening were younger than non-responders. Positivity rates varied from 0.8% to 3.8%, the cumulative ratio of a positive test was 5.1% after seven rounds, and 4.8% of patients had at least one colonoscopy. Mortality from CRC was significantly less in the screening group (relative risk (RR) 0.82 (0.69-0.97)), and the reduction in mortality was most pronounced above the sigmoid colon. After seven rounds, RR was reduced to less than 0.70 compared with controls. Mortality rates from causes other than CRC did not differ. Non-responders had a significantly increased risk of death from CRC compared with those who accepted the full programme. Subjects who accepted the first screening, but not subsequent ones, demonstrated a tendency towards increased risk. CONCLUSIONS: The persistent reduction in mortality from CRC in a biennial screening program with Hemoccult-II, and a reduction in RR to less than 0.70 in those adhering to the programme, support attempts to introduce larger scale population screening programmes. The smaller effect on mortality from CRC in the rectum and sigmoid colon suggests evaluation by additional flexible sigmoidoscopy with longer intervals.

Analysis of the hydrology and flow of nitrogen in 17 Danish catchments.

In the search for tools for evaluating the effects of national action plans combating diffuse nutrient pollution causing eutrophication of surface waters, a study of the nitrogen (N) flow in 17 Danish agricultural catchments was carried out. Data on N input and N harvest for the agricultural year of 1993/1994 was obtained from questionnaire surveys facilitating the set up of N balances. Net export of N from the catchments measured at the outlet was obtained from time-series of stream water chemistry and discharge from 1993-1997. N leaching from the root zone of each field was calculated using an empirical model. A physically based lumped rainfall-runoff model was used for separating the hydrograph time-series into three runoff components: baseflow, interflow and overland flow. Large regional variations in net N input were found ranging from 62 kg N ha(-1) yr(-1) in the loamy eastern part of the country dominated by cereal production to 137 kg N ha(-1) yr(-1) in the western part characterised by less fertile sandy soils and dominated by animal husbandry. N leaching from the root zone showed a corresponding variation with regional averages ranging from 34.5 kg N ha(-1) yr(-1) to 90.9 kg N ha(-1) yr(-1). No similar regional pattern could however be found regarding net N export, and no relationship could be established between net N export and root zone N leaching. This finding was ascribed to a varying and in some catchments very high (>80%) N retention during subsurface transport to the stream. The hydrological modelling revealed that loamy catchments had a high proportion of quick flow (overland flow + interflow), whereas baseflow dominated the sandy catchments. Further, a highly significant relationship between N retention and proportion of quick flow was found emphasising the importance of understanding the hydrological pathways. This should be taken into consideration when evaluating the N loading of surface waters resulting from a given agricultural practice and the effects of possible changes in this practice.

Sorption of polycyclic aromatic compounds to humic and fulvic acid HPLC column materials.

Two different humic acids (HA) and a fulvic acid (FA) were chemically immobilized to a high performance liquid chromatography (HPLC) silica column material. The immobilization was performed by binding amino groups in HA/FA to the free aldehyde group in glutardialdehyde attached to the silica gel. The HPLC column materials were compared with a blank column material made by applying the same procedure but without immobilizing HA or FA. Also, a column was made by binding carbonyl groups in HA to amino groups attached to the silica gel. The humic substances were selected to secure appropriate variation of their structural features. The retention factors of 45 polycyclic aromatic compounds (PAC) to the four columns were determined by HPLC. The advantage of the technique is a large number of compounds can easily be studied. The binding procedure does not appear to cause a drastic selection between the HA molecules. The k' values obtained for the two Aldrich HA columns agree in general reasonably. The retention or sorption of the compounds increased with the size of the PAC and the number of lipophilic substituents, but decreased when polar substituents were present. The PAC retention was much stronger to the two HA columns than to the FA and blank column, both for hydrophobic polycyclic aromatic hydrocarbons (PAH) and the polar PAC. Other factors impacting the PAC binding may be specific interactions with HA and the ionic strength of the aqueous phase. The technique has been applied to do direct determinations of Koc.

Single photon emission computed tomography and apolipoprotein E in Alzheimer's disease: impact of the epsilon4 allele on regional cerebral blood flow.

The aim of this study was to examine the impact of the apolipoprotein E (APOE) epsilon4 allele on semiquantitative regional cerebral blood flow (rCBF) in Alzheimer's disease. Single photon emission computed tomography technetium (SPECT) with (99m)Tc d,l-hexamethyl propylenamine oxine was used to determine rCBF in 41 consecutive patients (18 males/23 females) with probable Alzheimer's disease according to the National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer's Disease and Related Disorders Association criteria (mean age 71.0 years; range 54-85). The mean Mini-Mental State Examination (MMSE) score was 20.4 (range 10-30). After normalization of CBF to mean blood flow in the cerebellum, values for rCBF in several cortical regions of interest, side-to-side asymmetry indices, and anterior-posterior ratios were calculated. Determination of the APOE genotype from blood samples was performed using restriction enzyme polymerase chain reaction technique. Multivariate regression analyses and the Wilcoxon rank-sum test for unpaired data (Mann-Whitney) were used for statistical analysis. The patients comprised 27APOE epsilon4-positive and 14APOE epsilon4-negative individuals. Five patients were APOE epsilon4 homozygotes. APOE epsilon4-positive patients had significantly reduced rCBF in the right frontal and left occipital lobes. On nonparametric analysis, the most prominent differences between epsilon4-negative and epsilon4-positive patients were demonstrated in subregions representing the frontal association cortex (Mann-Whitney, P < .01). Age-stratified analysis suggested that these findings could be demonstrated predominantly in the elderly patients. The results of this study suggest that the APOE genotype in itself may have an impact on the pattern of rCBF deficits in Alzheimer's disease. The more pronounced reduction of rCBF in frontal association cortex observed in elderly APOE epsilon4-positive patients might predict clinical progression.

Effects of white spirits on rat brain 5-HT receptor functions and synaptic remodeling.

Previously, inhalation exposure to different types of white spirit (i.e. complex mixtures of aliphatic, aromatic, alkyl aromatic, and naphthenic hydrocarbons) has been shown to induce neurochemical effects in rat brains. Especially, the serotonergic system was involved at the global, regional, and subcellular levels. This study investigates the effects of two types of white spirit on 5-hydroxytryptamine (5-HT) transporters (5-HTT), 5-HT(2A) and 5-HT(4) receptor expression in forebrain, and on neural cell adhesion molecule (NCAM) and 25-kDa synaptosomal associated protein (SNAP-25) concentrations when applied as indices for synaptic remodeling in forebrain, hippocampus, and entorhinal cortex. Male Wistar rats were exposed to 0, 400, or 800 ppm of aromatic (20 vol.% aromatic hydrocarbons) or dearomatized white spirit (catalytically hydrogenated white spirit) in the inhaled air for 6 h/day, 7 days/week for 3 weeks. The 5-HTT B(max) and K(d) were not affected. Both types of white spirit at 800 ppm decreased B(max) for the 5-HT(2A) receptor. The aromatic type decreased the K(d) of the 5-HT(2A) and 5-HT(4) receptors at 800 ppm. Aromatic white spirit did not affect NCAM or SNAP-25 concentrations or NCAM/SNAP-25 ratio in forebrain, whereas NCAM increased in hippocampus and the NCAM/SNAP-25 ratio decreased in entorhinal cortex. Dearomatized white spirit did not affect NCAM, SNAP-25, or NCAM/SNAP-25 ratio in any brain region. The affected 5-HT receptor expression and synaptic plasticity marker proteins indicate that inhalation exposure to high concentrations of white spirit may be neurotoxic to rats, especially the aromatic white spirit type.

Apoliprotein E and multiple sclerosis: impact of the epsilon-4 allele on susceptibility, clinical type and progression rate.

The purpose of this study was to investigate the relation between APOE genotype and Multiple Sclerosis (MS) in a genetically homogeneous population. We examined 240 patients consulting the MS-clinic during a period of 3 years (1996 - 1999). The mean age of the patients was 41.7 years (range 19 - 80 Y, SD 10.0 Y). As a measure of the progression rate (PR) the last registered Expanded Disability Status Scale (EDSS) score was divided by the time span (years) from disease onset until the latest assessment. The APOE genotype was determined from saliva and/or blood samples using PCR-techniques. The prevalence of different APOE genotypes was compared with the allele-distribution in a population of 361 persons from a Danish cross-sectional population study. The frequency of APOE-epsilon 4/epsilon 4 homozygotes was significantly higher in the MS-group as compared to controls (P<0.05, odds ratio: 2.3), whereas the frequency distribution of other genotypes did not differ significantly. The rate of progression was significantly faster in the APOE-epsilon 4/epsilon 4 homozygotes compared to other genotypes in the MS group (P<0.05). This study suggests that the APOE-epsilon 4/epsilon 4 homozygotes have an increased risk of developing MS. MS patients with the APOE-epsilon 4/epsilon 4 allele may also have an increased rate of disease progression. Multiple Sclerosis (2000) 6 226 - 230

AMPA receptor subunit mRNAs and intracellular [Ca(2+)] in cultured mouse and rat cerebellar granule cells.

Cultured mouse cerebellar granule cells differ from their rat counterparts in that they survive well when grown in non-depolarising medium (5 mM K(+)). However, when chronically stimulated by added glutamate agonists, including (RS)alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA), rat cerebellar granule cells also survive well in non-depolarising medium. We hypothesised that the relatively good survival of mouse cerebellar granule cells in the absence of added glutamate agonists might reflect AMPA receptors resistant to desensitisation. These receptors might be stimulated by endogenous glutamate. We tested this hypothesis by comparing cultured mouse and rat cerebellar granule cells grown in depolarising (25 mM K(+)) and non-depolarising (5 mM K(+)) medium. We studied the AMPA-induced increase in intracellular Ca(2+) concentration ([Ca(2+)](i)), using the fluorescent Ca(2+) chelator, Fluo-3, and the relative concentrations of mRNAs for the four AMPA receptor subunits, GluR1-4. GluR1-4 mRNAs were measured by restriction enzyme analysis of a PCR product containing cDNA with a composition proportional to the four subunit mRNAs. We found that the [Ca(2+)](i)-response to AMPA receptor activation in cultured cerebellar granule cells is determined mainly by the desensitisation properties of the AMPA receptors rather than by their ion permeability. We also found that mouse cerebellar granule cells express AMPA receptors which are more resistant to desensitisation than the corresponding rat AMPA receptors. Thus, relatively slow AMPA receptor desensitisation kinetics may contribute to the survival of mouse cerebellar granule cells in non-depolarising medium.

Apolipoprotein E-epsilon 4 frequency in affective disorder.

BACKGROUND: The epsilon 4 allele of apolipoprotein E (APOE) as well as affective disorder have been found to be associated with Alzheimer's disease, but it is unclear whether cognitive impairment in affective disorder or subtypes of affective disorder is mediated by the epsilon 4 allele of APOE. METHODS: The genotype of APOE was analyzed in 106 unipolar patients, 21 bipolar patients, and 46 controls and correlated with cognitive function in the euthymic phase as measured by the Mini-Mental State Examination, the Cambridge Cognitive Examination, the Mattis Dementia Rating Scale, the Gottfries-Bråne-Steen Dementia Rating Scale, and the Global Deterioration Scale. RESULTS: The frequency of APOE-epsilon 4 allele was approximately the same in unipolar patients (.189) and in bipolar patients (.167). Although patients showed more cognitive impairment than controls, no significant overall difference was found between the frequency of APOE-epsilon 4 allele in patients (.185) and controls (.131). In fact, the frequency of APOE-epsilon 4 allele did not correlate with cognitive impairment. It was not possible to identify subgroups of patients with an increased frequency of APOE-epsilon 4 allele, as no association was found with gender, age at onset, the number of affective episodes, the presence of psychotic features, or the prevalence of familial affective disorder. CONCLUSIONS: It seems that cognitive impairment in affective disorder can be attributed to pathways other than the APOE genotype.

[Comorbidity of infantile autism and blindness]. / Komorbiditet mellem infantil autisme og blindhed.

A three year-old girl with Leber's amaurosis was found to fulfil the criteria for autism, as will as being mentally retarded. Despite her blindness she displayed unusually by early motor development and was able to move around in her surroundings without difficulty. This case suggests that this ability was due to her relevant use of a minor visual remnant and, as is often seen in blindness, a capability of reflecting the surroundings--a "bat sense". The pervasive development a disorder influenced her abilities more strongly than her sensory handicap.

Possible advantages and drawbacks of adding flexible sigmoidoscopy to hemoccult-II in screening for colorectal cancer. A randomized study.

BACKGROUND: Flexible sigmoidoscopy (FS) has been recommended as a screening method to reduce mortality from colorectal cancer (CRC). The present study evaluates the effect of adding FS to the fecal occult blood test Hemoccult-II (H-II) on diagnostic yield of colorectal neoplasia. METHODS: A total of 10,978 normal persons aged 50-75 years were invited to participate, 5495 persons being allocated at random to H-II and FS and 5483 to H-II alone. RESULTS: In spite of a lower compliance (40% versus 56%) for the combined procedure, the diagnostic yield of colorectal neoplasia was higher than for H-II alone (12 CRC versus 4 CRC, and 72 large adenomas versus 14). Within 24-62 months after screening there were fewer CRCs detected after H-II + FS than after H-II alone. The stage distribution was less favorable than in screen-detected cases. CONCLUSION: One FS may not be an optimal way of screening, but FS deserves to be evaluated in randomized population studies including repeated H-II tests in the control arm.