Diagnostic value of cytokines and chemokines in lyme neuroborreliosis.

The aims of the present study were to assess the concentrations of different cytokines and chemokines in blood serum and cerebrospinal fluid (CSF) samples of patients with Lyme neuroborreliosis and to identify the possible marker(s) that would enable a distinction between clinically evident and suspected Lyme neuroborreliosis, as well as between Lyme neuroborreliosis and tick-borne encephalitis (TBE). Our additional interest was to evaluate the relationship between cytokine and chemokine concentrations and Borrelia burgdorferi sensu lato isolation from CSF, as well as intrathecal synthesis of specific borrelial antibodies. We found that higher concentrations of CXCL13 and lower concentrations of interleukin 10 (IL-10) in serum were associated with higher odds for clinically evident Lyme neuroborreliosis compared to suspected Lyme neuroborreliosis, as well as to TBE. The concentrations of IL-2, IL-5, IL-6, IL-10, and CXCL13 in the CSF were higher in patients with evident Lyme neuroborreliosis than in those who were only suspected to have the disease. A comparison of CSF cytokine and chemokine levels in patients with and without intrathecal synthesis of specific borrelial antibodies revealed that CXCL13 CSF concentration is significantly associated with intrathecal synthesis of borrelial antibodies. A comparison of the cytokine and chemokine CSF concentrations in patients with clinically evident Lyme neuroborreliosis according to CSF culture results revealed that higher concentrations of gamma interferon (IFN-γ) were associated with lower odds of Borrelia isolation. Although several differences in the blood serum and CSF concentrations of various cytokines and chemokines between the groups were found, the distinctive power of the majority of these findings is low. Further research on well-defined groups of patients is needed to appraise the potential diagnostic usefulness of these concentrations.

Autonomic dysfunction in presymptomatic and early symptomatic Huntington's disease.

OBJECTIVES: Although autonomic dysfunction was found in advanced Huntington's disease (HD) patients it is not clear whether there is autonomic dysfunction in presymptomatic and early symptomatic HD. MATERIAL & METHODS: Different cardiovascular autonomic tests were performed in 14 presymptomatic HD mutation carriers (PHD), 11 early symptomatic HD patients (EHD) and in 25 sex and age matched controls. RESULTS: We found attenuated response to simple mental arithmetic test (relative heart rate in PHD and EHD was 10% lower than in controls; diastolic pressure was 10.6% lower in EHD than in controls; P < 0.05) and exaggerated response to the late phase of cold pressor test (relative heart rate was 10% higher in PHD and 7% higher in EHD than in controls; P < 0.05). The rest of the cardiovascular autonomic tests did not reveal significant differences between patients and controls. CONCLUSIONS: Our results suggest that subtle autonomic dysfunction occurs even in PHD and EHD.

Epidemiology of Huntington's disease in Slovenia.

OBJECTIVES: The objective of this study was to estimate the prevalence of Huntington's disease (HD) in Slovenia using direct mutation analysis. MATERIALS AND METHODS: Symptomatic patients and presymptomatic individuals at risk for HD referred to the Institute of Medical Genetics between 1997 and 2007 were included in the study. The patients were ascertained through multiple sources. The prevalence was estimated on 31 December 2006. RESULTS: A total of 116 and 68 individuals with CAG repeat number >36 were symptomatic and presymptomatic, respectively. The prevalence of HD in Slovenia was estimated at 5.16/10(5) (95% confidence interval 4.16-6.16). CONCLUSIONS: This is the first report on the epidemiology and prevalence of HD in Slovenia. The prevalence of HD is comparable with previously reported data in other European countries. In Slovenia, a higher proportion of individuals at risk for HD decide on predictive mutational testing as compared with the estimated numbers for Europe, United States, Canada and Australia.

Early sympathetic hyperactivity in Huntington's disease.

To investigate whether Huntington's disease (HD) affects autonomic nervous system (ANS) functioning 33 subjects with positive genetic test results were studied. The subjects were classified according to Shoulson and Fahn (S&F) HD disability scale into three subgroups: subgroup 1 (eight asymptomatic gene carriers), subgroup 2 (13 mildly disabled HD patients) and subgroup 3 (eight moderately and four severely disabled HD patients). A battery of cardiovascular autonomic tests (Valsalva maneuver, deep breathing test, sustained handgrip test, orthostatic test) and the spectral analysis of heart rate variability (HRV) were performed. The results were compared with a group of matched controls. In subgroup 1, there was a higher power of low-frequency band (LFB) (P < 0.05). In subgroup 2 a higher power of LFB was detected, LFB/high-frequency band (HFB) coefficient was increased and the blood pressure response to sustained handgrip was elevated (P < 0.05). Subgroup 3 showed significantly lower blood pressure response to sustained handgrip, lower respiratory (P < 0.05) and orthostatic ratio (P < 0.01). Our results suggest that sympathetic hyperfunction is present in asymptomatic gene carriers and mildly disabled HD patients. Contrary to that, ANS hypofunction was found in advanced HD patients.

Prothrombotic gene polymorphisms and atherothrombotic cerebral infarction.

OBJECTIVES: To test the hypothesis whether risk genotypes of the prothrombotic gene polymorphisms (I/D 4G5G PAI-1, G1691A factor V point mutation, factor VII Arg/Gln353) are risk factors for ACI in the Slovene population. The study sought an association between the insertion/deletion 4G/5G-plasminogen activator inhibitor 1 (PAI-1) gene polymorphism, the 1691G-A factor V point mutation or the arg353-to-gln factor VII gene polymorphism and atherothrombotic cerebral infarction (ACI). MATERIAL AND METHODS: Ninety-six Slovene patients who suffered ACI were compared with 115 control subjects clinically free of cerebrovascular disease. Insertion/deletion 4G/5G PAI-1 gene polymorphism, 1691G-A factor V point mutation and arg353-to-gln polymorphism in the factor VII were determined using polymerase chain reaction. RESULTS: The 4G4G genotype of 4G5G PAI-1 gene polymorphism was less frequent in cases (21.9%) than in controls (35.6%; OR = 0.5, 95% CI = 0.3-1; P = 0.033). No association was found either between the factor V point mutation (1691G-A) or the RR genotype of the factor VII Arg/Gln353 gene polymorphism and the risk of ACI using univariate analysis. CONCLUSION: The 4G/4G-PAI-1 genotype might be a protective factor against ACI, whereas the factor V point mutation (1691G-A) and the factor VII Arg/Gln353 gene polymorphism have not proved to be risk factors for ACI.

Autonomic nervous system function in patients with acute brainstem stroke.

Dysfunction of the autonomic nervous system (ANS) often complicates the clinical course in patients with acute stroke. The studies of the function of ANS in patients with brainstem stroke are scarce. The purpose of our study was to evaluate the function of ANS in the early period after acute brainstem stroke and to find out whether the location of stroke in brainstem influences the function of ANS. We studied heart rate variability (HRV) and plasma levels of catecholamines in 14 eligible patients with medullary (6 patients) and non-medullary (8 patients) brainstem stroke during the first 6 weeks after stroke. Integrals over the low- (LFB; 0.04-0.15 Hz) and high-frequency bands (HFB; 0.15-0.40 Hz) of power spectra were calculated. When compared to controls, the integrals over HFB in the hyperacute (p < 0.001) and over LFB in the hyperacute (p < 0.005) and in the acute (p < 0.05) phases were significantly smaller in patients with medullary strokes. Integrals over LFB and HFB in patients with non-medullary strokes did not differ significantly from controls, regardless of the phase of the disease. Plasma levels of epinephrine in patients with non-medullary stroke in the hyperacute and in the acute phases were significantly higher than in controls (p < 0.005). We conclude that there is transient dysfunction of ANS in patients with acute medullary stroke, in contrast to those with non-medullary brainstem stroke.

DD genotype of the angiotensin-converting enzyme gene and stroke in Slovenian population.

The angiotensin-converting enzyme (ACE) is a rate-limiting enzyme in the renin angiotensin system, the enzyme is involved in the vascular remodelling and atherosclerosis. Its significance in pathogenesis of ischemic cerebrovascular insults (CVI) is not known. We analysed 124 Slovenian patients with CVI and compared them with 161 healthy controls for I/D polymorphism. Under a recessive model (chi2 = 1.76, p = 0.1, OR = 1.40, 95% CI: 0.85-2.34) we found no significant difference in I/D genotypes between patients with CVI and controls. This study shows that in a group of Slovenian CVI patients the DD genotype is not an important risk factor for the development of stroke.

[A 2-year study of patients up to 55 years of age with cerebrovascular disorders]. / Dvogodisnja studija bolesnika s cerebrovaskularnom bolescu (CVB) do 55. godine starosti.

During the years 1986, 1987, all patients with cerebrovascular accident (CVA) under 55, admitted to Department of Neurology Ljubljana were prospectively studied. The significant differences between this group and the group of patients with CVA in all ages were found in relation to sex, frequency of different forms of CVA, and early and late mortality.