Search results for "Case-control"
showing 10 items of 1685 documents
Sporadic ALS is not associated with VAPB gene mutations in Southern Italy
2006
Abstract Mutations in the Cu/Zn superoxide dismutase (Sod1) gene have been reported to cause adult-onset autosomal dominant Amyotrophic Lateral Sclerosis (FALS). In sporadic cases (SALS) de novo mutations in the Sod1 gene have occasionally been observed. The recent finding of a mutation in the VAMP/synaptobrevin-associated membrane protein B (VAPB) gene as the cause of amyotrophic lateral sclerosis (ALS8), prompted us to investigate the entire coding region of this gene in SALS patients. One hundred twenty-five unrelated patients with adult-onset ALS and 150 healthy sex-age-matched subjects with the same genetic background were analyzed. Genetic analysis for all exons of the VAPB gene by DH…
Mania risk is characterized by an aberrant optimistic update bias for positive life events
2017
Abstract Background Early cognitive models of mania posit that a cognitive triad consisting of unrealistically optimistic beliefs about the self, world and future may predispose vulnerable individuals to develop manic symptoms. Hypomanic personality traits (HYP) pose such a vulnerability factor in the etiopathogenesis of mania. Methods To test the cognitive tenet of overly optimistic views of the future, 24 individuals with high-HYP and 24 age- and sex-matched controls (low-HYP) performed a belief update paradigm, during which they estimated their personal chances to experience future positive and negative life events. Afterwards, they were presented with the statistical likelihood of each …
Pseudoradicular and radicular low-back pain--a disease continuum rather than different entities? Answers from quantitative sensory testing.
2006
To assess whether pseudoradicular low-back pain may be associated with subclinical sensory deficits in the distal extremity, we applied the quantitative sensory testing protocol of the German Research Network on Neuropathic Pain (DFNS) in 15 patients with pseudoradicular pain distribution. Sixteen age- and gender-matched healthy control subjects as well as 12 patients with radicular pain syndromes (L4-S1) were studied with the same protocol. Radicular pain was diagnosed using clinical criteria (pain radiation beyond the knee, motor-, sensory-, or reflex deficits, positive Lasegue's test). Z-score QST profiles revealed a selective loss of vibration detection, detection of v. Frey hair contac…
Effect of focal cerebellar lesions on procedural learning in the serial reaction time task
1998
Prior studies have shown that procedural learning is severely impaired in patients with diffuse cerebellar damage (cortical degeneration) as measured by the serial reaction time task (SRTT). We hypothesize that focal cerebellar lesions can also have lateralized effects on procedural learning. Our objective was to assess the effects of focal cerebellar lesions in procedural learning as measured by the SRTT. We studied 14 patients with single, unilateral vascular lesions in the territory of the posterior-inferior or superior cerebellar artery, who were compared with ten age- and sex-matched controls in a one-handed version of the SRTT. Patients with lesions at any other level of the brain or …
Serum and urine
2017
Early detection of nodular thyroid diseases including thyroid cancer is still primarily based on invasive procedures such as fine-needle aspiration biopsy. Therefore, there is a strong need for development of new diagnostic methods that could provide clinically useful information regarding thyroid nodular lesions in a non-invasive way. In this study we investigated 1H NMR based metabolic profiles of paired urine and blood serum samples, that were obtained from healthy individuals and patients with nodular thyroid diseases. Estimation of predictive potential of metabolites was evaluated using chemometric methods and revealed that both urine and serum carry information sufficient to distingui…
Relationship Between Human Leucocyte Antigen Class I and Class II and Chronic Idiopathic Urticaria Associated With Aspirin and/or NSAIDs Hypersensiti…
2006
Background. HLA genes play a role in the predisposition of several diseases. The aim was to analyze the prevalence of HLA class I phenotypes and HLA-DRB1*genotype in patients with CIU associated with ASA and NSAIDs hypersensitivity (AICU).Methods. 69 patients with AICU, and 200 healthy subjects.Results. Subjects with HLA-B44 and HLA-Cw5 antigens were more represented in patients with AICU than in control group. Subjects with HLA-A11, HLA-B13, HLACw4, and HLA-Cw7 antigen were more represented in control group than in patients with AICU. Multiple logistic regression demonstrated an association of HLA-Cw4 and HLA-Cw7 with a lower risk of AICU, whereas carriers of HLA-B44 phenotype had a higher…
Sleep-wake disturbances in patients with amyotrophic lateral sclerosis
2011
Objective To evaluate the frequency, severity and determinants of sleep disturbances in patients with amyotrophic lateral sclerosis (ALS). Methods Information about night-time complaints was collected using a standardised questionnaire, the Pittsburgh Sleep Quality Index (PSQI), and the Epworth Sleepiness Scale (ESS) in a group of 100 patients with ALS and in 100 control subjects matched for age and sex. Functional disability was assessed using the ALS Functional Rating Scale-Revised (ALSFRS-R). Sleep was studied by overnight polysomnography in 12 patients. Results Fifty-nine patients with ALS and 36 controls reported sleep disturbances. The mean global PSQI score of patients with ALS was s…
Sensitivity of laser-evoked potentials versus somatosensory evoked potentials in patients with multiple sclerosis
2003
Somatosensory evoked potentials (SEPs) play a less important role in the diagnosis of multiple sclerosis (MS) than visually evoked potentials. Since standard SEPs only reflect the dorsal column function, we now investigated spinothalamic tract function in patients with MS using laser-evoked potentials (LEPs).LEPs to thulium laser stimuli (3ms, 540 mJ, 5mm diameter) were recorded from 3 midline positions (Fz, Cz, Pz) in 20 patients with MS, and 6 patients with possible but unconfirmed MS. Peak latencies and peak-to-peak amplitude of the vertex potential negativity (N2) and positivity (P2) were evaluated and compared with normative values from 22 healthy control subjects. Median and tibial ne…
Specific IgE against Staphylococcus aureus enterotoxins: an independent risk factor for asthma.
2012
The role of IgE in patients with severe asthma is not fully understood.We sought to investigate whether IgE to Staphylococcus aureus enterotoxins might be relevant to disease severity in adult asthmatic patients.Specific IgE antibody concentrations in serum against enterotoxins, grass pollen (GP), and house dust mite allergens and total IgE levels were measured in adult cohorts of 69 control subjects, 152 patients with nonsevere asthma, and 166 patients with severe asthma. Severe asthma was defined as inadequately controlled disease despite high-dose inhaled corticosteroids plus at least 2 other controller therapies, including oral steroids.Enterotoxin IgE positivity was significantly great…
FAIR and dynamic susceptibility contrast-enhanced perfusion imaging in healthy subjects and stroke patients.
2002
Purpose To compare dynamic susceptibility contrast-enhanced magnetic resonance imaging (DSC-MRI) and the flow-sensitive alternating inversion recovery (FAIR) technique for measuring brain perfusion. Materials and Methods We investigated 12 patients with acute stroke, and 10 healthy volunteers with FAIR and DSC maps of regional cerebral blood volume (rCBV), mean transit time (MTT), and regional cerebral blood flow (rCBF). Results In volunteers good gray/white-matter contrast was observed in FAIR, rCBF, and rCBV maps. Regions with high signal intensities in FAIR matched well with high values of rCBV and rCBF. In ischemic stroke patients a high correlation (r = 0.78) of the ipsi- to contralate…