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CH Patients (ch + patient)
Selected AbstractsEffect of deep brain stimulation of the posterior hypothalamic area on the cardiovascular system in chronic cluster headache patientsEUROPEAN JOURNAL OF NEUROLOGY, Issue 9 2007P. Cortelli The objective of this study was to determine the cardiovascular effects of chronic stimulation of the posterior hypothalamic area (PHA) in cluster headache (CH) patients. Systolic and diastolic blood pressure (SBP, DBP), cardiac output, total peripheral resistance (TPR), heart rate (HR) and breathing were monitored at supine rest and during head-up tilt test (HUTT), Valsalva manoeuvre, deep breathing, cold face test and isometric handgrip in eight drug-resistant chronic CH patients who underwent monolateral electrode implantation in the PHA for therapeutic purposes. Autoregressive power spectral analysis (PSA) of HR variability (HRV) was calculated at rest and during HUTT. Each subject was studied before surgery (condition A) and after chronic deep brain stimulation (DBS) of PHA (condition B). Baseline SBP, DBP, HR and cardiovascular reflexes were normal and similar in both conditions. With respect to condition A, DBP, TPR and the LF/HF obtained from the PSA of HRV were significantly (P < 0.05) increased during HUTT in condition B. In conclusion, chronic DBS of the PHA in chronic CH patients is associated with an enhanced sympathoexcitatory drive on the cardiovascular system during HUTT. [source] Reorganization of cortical hand representation in congenital hemiplegiaEUROPEAN JOURNAL OF NEUROSCIENCE, Issue 4 2009Yves Vandermeeren Abstract When damaged perinatally, as in congenital hemiplegia (CH), the corticospinal tract usually undergoes an extensive reorganization, such as the stabilization of normally transient projections to the ipsilateral spinal cord. Whether the reorganization of the corticospinal projections occurring in CH patients is also accompanied by a topographical rearrangement of the hand representations in the primary motor cortex (M1) remains unclear. To address this issue, we mapped, for both hands, the representation of the first dorsal interosseous muscle (1DI) in 12 CH patients by using transcranial magnetic stimulation co-registered onto individual three-dimensional magnetic resonance imaging; these maps were compared with those gathered in age-matched controls (n = 11). In the damaged hemisphere of CH patients, the representation of the paretic 1DI was either found in the hand knob of M1 (n = 5), shifted caudally (n = 5), or missing (n = 2). In the intact hemisphere of six CH patients, an additional, ipsilateral, representation of the paretic 1DI was found in the hand knob, where it overlapped exactly the representation of the non-paretic 1DI. In the other six CH patients, the ipsilateral representation of the paretic 1DI was either shifted caudally (n = 2) or was lacking (n = 4). Surprisingly, in these two subgroups of patients, the representation of the contralateral non-paretic 1DI was found in a more medio-dorsal position than in controls. The present study demonstrates that, besides the well-known reorganization of the corticospinal projections, early brain injuries may also lead to a topographical rearrangement of the representations of both the paretic and non-paretic hands in M1. [source] Haplotype Analysis Confirms the Association Between the HCRTR2 Gene and Cluster HeadacheHEADACHE, Issue 7 2008Innocenzo Rainero MD Background., Several studies suggested that genetic factors play a role in cluster headache (CH) susceptibility. We found a significant association between the 1246 G>A polymorphism of the hypocretin receptor-2 (HCRTR2) gene and the disease. This association was confirmed in a large study from Germany but was not replicated in a dataset of CH patients from Northern Europe. Objective., The purpose of this study was to further evaluate the association between CH and the HCRTR2 gene using new polymorphisms, estimating the frequency of different gene haplotypes, searching for gene mutations, and evaluating the effects of the examined polymorphisms on hypocretin binding sites. Methods., We genotyped 109 CH patients and 211 healthy controls for 5 new polymorphisms of the HCRTR2 gene and we inferred different gene haplotypes. Complete HCRTR2 sequencing was undertaken for 11 independent CH patients, 5 of whom had a positive family history. The effects of the 1246 G>A polymorphism on the hypocretin binding sites were evaluated using different computer-assisted analyses. Results., Three new polymorphisms of the HCRTR2 gene resulted significantly associated with CH. The GTAAGG haplotype resulted more frequent in cases than in controls (OR: 3.68; 95% CI: 1.85-7.67). No point mutation of the HCRTR2 gene was found. Binding analyses showed that the 1246 G>A polymorphism (substitution of valine at position 308 by isoleucine) has no effect on the hypocretin binding sites but could influence the dimerization process of the receptor. Conclusion., Our data confirm previous studies suggesting that the HCRTR2 gene or a linked locus significantly modulates the risk for CH. In addition, we suggest that the V308I substitution of the HCRTR2 may interfere with the dimerization process of the receptor, thereby influencing its functional activity. [source] Gene Expression Profiling in Cluster Headache: A Pilot Microarray StudyHEADACHE, Issue 10 2006Christina Sjöstrand MD Background.,Cluster headache (CH) is a primary neurovascular headache disorder characterized by attacks of excruciating pain accompanied by ipsilateral autonomic symptoms. CH pathophysiology is presumed to involve an activation of hypothalamic and trigeminovascular systems, but inflammation and immunological mechanisms have also been hypothesized to be of importance. Objective.,To identify differentially expressed genes during different clinical phases of CH, assuming that changes of pathophysiological importance would also be seen in peripheral venous blood. Methods.,Blood samples were drawn at 3 consecutive occasions from 3 episodic CH patients: during attacks, between attacks and in remission, and at 1 occasion from 3 matched controls. Global gene expression was analyzed with microarray tehnology using the Affymetrix Human Genome U133 2.0 Plus GeneChip® Set, covering more than 54,000 gene transcripts, corresponding to almost 22,000 genes. Quantitative RT-PCR on S100P gene expression was analyzed in 6 patients and 14 controls. Results.,Overall, quite small differences were seen intraindividually and large differences interindividually. However, pairwise comparisons of signal values showed upregulation of several S100 calcium binding proteins; S100A8 (calgranulin A), S100A12 (calgranulin C), and S100P during active phase of the disease compared to remission. Also, annexin A3 (calcium-binding) and ICAM3 showed upregulation. BIRC1 (neuronal apoptosis inhibitory protein), CREB5, HLA-DQA1, and HLA-DQB1 were upregulated in patients compared to controls. The upregulation of S100P during attack versus remission was confirmed by quantitative RT-PCR analysis. Conclusions.,The S100A8 and S100A12 proteins are considered markers of non-infectious inflammatory disease, while the function of S100P is still largely unknown. Furthermore, upregulation of HLA-DQ genes in CH patients may also indicate an inflammatory response. Upregulation of these pro-inflammatory genes during the active phase of CH has not formerly been reported. Data from this pilot microarray study provide a basis for further studies in CH. [source] Serum paraoxonase and arylesterase activities for the evaluation of patients with chronic hepatitisINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 7 2008M. Aslan Summary The sensitivity of standard biochemical tests for liver function is low and insufficient for a reliable determination of the presence or absence of liver disease. The aim of the present study was to investigate serum paraoxonase and arylesterase activities and lipid hydroperoxide (LOOH) levels, and to find out that whether the measurement of serum paraoxonase and arylesterase activities would be useful as an index of liver function status in chronic hepatitis (CH). Fourty-four patients with CH (24 CHB and 20 CHC) and 38 controls were enrolled. Serum paraoxonase and arylesterase activities were detected spectrophotometrically. LOOH levels were measured by the FOX-2 assay. Serum paraoxonase and arylesterase activities were significantly lower in patients with CH than controls (p < 0.001 for both), while LOOH levels were significantly higher (p < 0.001). Paraoxonase and arylesterase activities were inversely correlated with LOOH levels (r = ,0.394, p < 0.05; r =,0.362, p < 0.05, respectively). Fibrosis scores of CH patients were significantly correlated with paraoxonase and arylesterase activities and LOOH levels (r =,0.276, p < 0.05; r = ,0.583, p < 0.001 and r = 0.562, p < 0.001, respectively). Our results indicated that decrease in the activities paraoxonase and arylesterase may play a role in the pathogenesis of CH. In addition, serum paraoxonase and arylesterase activities measurement may add a significant contribution to the liver function tests. [source] Quality of life of young adults with congenital hypothyroidismPEDIATRICS INTERNATIONAL, Issue 1 2009Hirokazu Sato Abstract Background:, The aim of the present study was to investigate health-related quality of life (HRQOL) and the living conditions of young adults with congenital hypothyroidism (CH) detected on newborn screening. Method:, Among medical institutions that care for CH patients in Japan and were approached to in the present study, 78 institutions agreed to participate. The World Health Organization Quality of Life-26 (WHO/QOL-26) was used for measurement of HRQOL. CH patients who gave consent after receiving an explanation from their physicians filled in questionnaires at home and sent them by mail. This survey involved 51 CH patients (15 male; 36 female) whose mean age was 21.1 ± 2.7 years (±SD; range, 18,27 years). The data from WHO/QOL-26 forms completed by 43 patients (12 male; 31 female) were compared with those for healthy individuals. Results:, Mean WHO/QOL-26 scores were 3.51 ± 0.43 for male patients and 3.59 ± 0.42 for female patients, and there were no significant differences between them and healthy individuals (men, 3.32 ± 0.42; women, 3.35 ± 0.49). No significant difference was observed between patients and healthy individuals on any domain of the WHO/QOL-26. Their degree of educational attainment was not poor. Conclusions:, The HRQOL of young adults with CH detected on newborn screening was not poor. [source] AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECEDCLINICAL ENDOCRINOLOGY, Issue 5 2010Sara Cervato Summary Objective, To assess autoimmune regulator (AIRE) gene mutations, class II HLA haplotypes, and organ- or non-organ-specific autoantibodies in patients with chronic hypoparathyroidism (CH) without associated Addison's disease (AD) or chronic candidiasis (CC). Design, Patients and Measurements, Twenty-four patients who had CH without AD or CC were included in the study. AIRE gene mutations in all 14 exons were studied using PCR in 24 patients, 105 healthy controls and 15 first-degree relatives of CH patients with AIRE mutations. Human leucocyte antigens (HLA) were determined for all 24 patients and 105 healthy controls. Autoantibodies to a range of antigens including NACHT leucine-rich-repeat protein-5 (NALP5) and interferon omega (IFN,) were tested in all 24 patients. Results, AIRE gene mutations were found in 6 of 24 (25%) patients, all females, and this was significantly higher (P < 0·001) compared with AIRE mutations found in healthy controls (2/105). Three patients (12·5%) had homozygous AIRE mutations characteristic of Autoimmune-Poly-Endocrinopathy-Candidiasis-Ectodermal-Dystrophy and all three were also positive for IFN,-autoantibodies. Three patients (12·5%) had heterozygous AIRE mutations; two of these were novel mutations. One of the patients with heterozygous AIRE mutations was positive for both NACHT leucine,rich-repeat protein 5 and IFN, autoantibodies. Heterozygous AIRE mutations were found in 10 of 15 first-degree relatives of CH patients with AIRE mutations, although none was affected by CH. Class II HLA haplotypes were not statistically different in patients with CH compared to healthy controls. Conclusions, Analysis of AIRE gene mutations together with serum autoantibody profile should be helpful in the assessment of patients with CH, in particular young women with associated autoimmune diseases. [source] | ||||||||||