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排序方式: 共有1334条查询结果,搜索用时 187 毫秒
31.
Lasse Pihlstrøm Gunnar Axelsson Kari Anne Bjørnarå Nil Dizdar Camilla Fardell Lars Forsgren Björn Holmberg Jan Petter Larsen Jan Linder Hans Nissbrandt Ole-Bjørn Tysnes Eilert Öhman Espen Dietrichs Mathias Toft 《Neurobiology of aging》2013
Genome-wide association studies have identified a number of susceptibility loci in sporadic Parkinson's disease (PD). Recent larger studies and meta-analyses have greatly expanded the list of proposed association signals. We performed a case-control replication study in a Scandinavian population, analyzing samples from 1345 unrelated PD patients and 1225 control subjects collected by collaborating centers in Norway and Sweden. Single-nucleotide polymorphisms representing 18 loci previously reported at genome-wide significance levels were genotyped, as well as 4 near-significant, suggestive, loci. We replicated 11 association signals at p < 0.05 (SNCA, STK39, MAPT, GPNMB, CCDC62/HIP1R, SYT11, GAK, STX1B, MCCC1/LAMP3, ACMSD, and FGF20). The more recently nominated susceptibility loci were well represented among our positive findings, including 3 which have not previously been validated in independent studies. Conversely, some of the more well-established loci failed to replicate. While future meta-analyses should corroborate disease associations further on the level of common markers, efforts to pinpoint functional variants and understand the biological implications of each risk locus in PD are also warranted. 相似文献
32.
Janne Erikke Mjelle Janne Erikke Mjelle Manar Kalaaji Janne Erikke Mjelle Manar Kalaaji Ole Petter Rekvig 《Autoimmunity》2013,46(2):104-111
Recent studies have demonstrated that the nephritogenicity of antibodies to dsDNA and nucleosomes confers to binding of glomerular membrane-associated nucleosomes, and not to cross-reacting glomerular antigens. There is no known parameter that determines antibody pathogenicity aside from specificity for dsDNA/nucleosomes, and systemic lupus erytheomatosus (SLE) patients may have high titer anti-dsDNA antibodies irrespective whether they have lupus nephritis or not. One parameter may be antibody affinity, as theoretically only high affinity antibodies may bind in vivo in a stable way. This was analyzed in (NZB × NZW)F1 mice with full-blown lupus nephritis. These mice had serum antibodies to dsDNA, and IgG autoantibodies bound in situ in glomerular membrane-associated electron dense structures as determined by immune electron microscopy (IEM). Intrinsic affinity of purified circulating and glomerular IgG anti-dsDNA antibodies was determined by surface plasmon resonance. The results demonstrate that affinity of glomerular-bound anti-dsDNA antibodies was higher than for those in circulation. However, affinity of glomerular in situ-bound antibodies from different mice varied considerably, from KD in the range from 10? 8 to 10? 13. These results indicate that antibody affinity is not a decisive pathogenic factor, but rather that availability of chromatin fragments may be the factor that determines whether an anti-dsDNA antibody binds in glomeruli or not. 相似文献
33.
Tomas Fagerberg Erik Sderman J Petter Gustavsson Ingrid Agartz Erik G Jnsson 《Psychiatry investigation》2021,18(5):373
ObjectiveTo investigate associations between Swedish universities Scales of Personality (SSP) and scales of the following personality instruments: Structured Clinical Interview for DSM-III-R axis II screening questionnaire (SCID-II screen), revised NEO personality inventory (NEO-PI-R), revised Chapman scales (Chapman) and the psychotic traits questionnaire (STQ). MethodsHealthy individuals (n=406) completed self-report personality questionnaires including SSP and at least one more personality inventory. Correlations were calculated between the 13 different SSP subscales as well as SSP’s three factors and factors and scales/subscales in SCID-II screen, NEO-PI-R, Chapman and STQ. The main factors of the various instruments were factor analysed. ICC were calculated. ResultsSSP Neuroticism factor correlated with SCID-II cluster C (r=0.71), NEO Neuroticism (r=0.80) and Chapman Social anhedonia (r=0.62). SSP Extraversion factor correlated with NEO Extraversion (r=0.63) and SSP Aggressiveness factor with NEO Agreeableness (r=-0.62). Strong correlations between SSP factors and scales and scales of the other instruments were sparse, although weaker correlations were common. ConclusionSSP is a useful investigation tool when measuring personality traits related to temperament-like features. SSP partly correlates well to especially three of the NEO-PI-R factors. The different personality inventories are not completely comparable to each other. Instead, they measure personality aspects in partly different ways. 相似文献
34.
We studied the inheritance and cellular segregation of a maternally inherited, heteroplasmic MT‐ND5 mutation, m.13271T>C, previously shown to cause only exercise intolerance despite being present in multiple tissues. The mutation was present at low levels in early passage, bulk muscle culture, but on subcloning, only homoplasmic clones were found. Studies of transmission showed that the mutation expanded from very low levels in the patient's mother to higher levels in the patient, particularly skeletal muscle, but was not found in the placenta and umbilical cord blood of her child. Our study suggests that the m.13271T>C is either already strictly segregated (intercellular heteroplasmy), or moves rapidly to this state in cultured cells. Transmission studies suggest that intercellular heteroplasmy may also be present in the patient's germline. Although rapid shifts in heteroplasmic mitochondrial DNA mutations reflect a bottleneck in the female germline, complete segregation will accentuate the effects of this and further complicate genetic counseling. 相似文献
35.
Children hospitalised with bronchiolitis in the first year of life have a lower quality of life nine months later 下载免费PDF全文
36.
37.
Petter Bjornstad Melanie Cree-Green Amy Baumgartner David M. Maahs David Z. Cherney Laura Pyle Judith G. Regensteiner Jane E. Reusch Kristen J. Nadeau 《Diabetes care》2015,38(1):126-131
OBJECTIVE
Diabetic nephropathy and cardiovascular disease are strongly related in adults with type 1 diabetes, yet little is known about this relationship in adolescents prior to the onset of detectable clinical disease. We hypothesized that cardiopulmonary fitness would be directly associated with albumin-to-creatinine ratio (ACR) and inversely related to estimated glomerular filtration rate (eGFR) in adolescents with type 1 diabetes.RESEARCH DESIGN AND METHODS
Sixty-nine adolescents with type 1 diabetes and 13 nondiabetic control subjects of similar pubertal stage and BMI had insulin sensitivity (glucose infusion rate [GIR]), measured by hyperinsulinemic-euglycemic clamp, and lean body mass, measured by DEXA. Cardiopulmonary fitness was measured by cycle ergometry to obtain peak volume of oxygen (VO2peak), and renal function was measured by eGFR using the Bouvet equation (measuring creatinine and cystatin C levels) and ACR.RESULTS
Adolescents (15.5 ± 2.2 years of age) with type 1 diabetes (6.3 ± 3.8 years diabetes duration) had reduced VO2peak (31.5 ± 6.3 vs. 36.2 ± 7.9 mL/kg ⋅ min, P = 0.046) and VO2peak/lean kg (43.7 ± 7.0 vs. 51.0 ± 8.6 mL/lean kg ⋅ min, P = 0.007) compared with nondiabetic control subjects. eGFR was inversely associated with VO2peak and VO2peak/lean kg after adjusting for sex, Tanner stage, GIR, HbA1c level, systolic blood pressure, and LDL cholesterol level (β ± SE, VO2peak: −0.19 ± 0.07, P = 0.02; VO2peak/lean kg: −0.19 ± 0.09, P = 0.048). Moreover, participants in the highest tertile for eGFR had significantly lower sex- and Tanner-adjusted VO2peak and VO2peak/lean kg compared with participants in the lowest tertile.CONCLUSIONS
Adolescents with type 1 diabetes had reduced exercise capacity, which was strongly associated with renal health, independent of insulin sensitivity. Future studies should examine the underlying interrelated pathophysiology in order to identify probable targets for treatment to reduce cardiovascular and renal complications. 相似文献38.
39.
Elisabeth Heffermehl Lange Ragnar Nesvåg Petter Andreas Ringen Cecilie Bhandari Hartberg Unn Kristin Haukvik Ole Andreas Andreassen Ingrid Melle Ingrid Agartz 《Comprehensive psychiatry》2014
Longitudinal studies on first-episode psychosis (FEP) patients have shown a decrease of substance use disorders (SUDs) over the first years of illness, but there has been less focus on the gender aspect. The present study examines stability of alcohol and illicit substance use, with specific focus on gender, in a one year follow-up investigation of 154 FEP patients (91 men, 63 women) in Oslo, Norway, using criteria for DSM-IV substance use disorder diagnosis, the Alcohol Use Disorders Identification Test (AUDIT) and the Drug Use Disorders Identification Test (DUDIT). The results show that cannabis was the most frequently used illicit substance at both times. Significantly more men (34%) than women (13%) had a current illicit SUD at baseline. At follow-up, the rate of illicit SUDs was significantly reduced in men (18%) but not in women (11%). There were no significant gender differences in the rate of current alcohol use disorders (AUD) (men 14%; women 8%) at baseline, and no significant reduction in AUD in any of the genders at follow-up. At follow-up, total AUDIT and DUDIT scores were reduced in men only. In conclusion, the high and persistent rate of SUDs, particularly of cannabis, among men and women during the first year of treatment for psychosis should be addressed in the clinical management of the patients. Female FEP patients who are also substance users may be particularly vulnerable in this regard and warrant closer attention. 相似文献