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51.
Prevalence of hereditary ataxias and spastic paraplegias in Molise,a region of Italy 总被引:8,自引:0,他引:8
Alessandro Filla Giuseppe De Michele Roberto Marconi Luigi Bucci Carmine Carillo Anna Elisa Castellano Lucio Iorio Claudio Kniahynicki Francesco Rossi Giuseppe Campanella 《Journal of neurology》1992,239(6):351-353
Summary An epidemiological survey of hereditary ataxias and paraplegias was conducted in Molise, a region of Italy (335, 211 inhabitants on 1 January 1989). Total prevalence was 7.5 x 10–5 inhabitants (95% confidence limits 4.8–11.1). There were 7 patients with Friedreich's disease, 5 with early onset cerebellar ataxia with retained tendon reflexes, 4 with ataxia-telangiectasia, 9 with hereditary spastic paraplegias (2 autosomal dominant and 7 autosomal recessive cases). There was no patient with autosomal dominant cerebellar ataxia. 相似文献
52.
53.
Pelosi G Scarpa A Veronesi G Spaggiari L Del Curto B Moore PS Maisonneuve P Sonzogni A Masullo M Viale G 《Virchows Archiv : an international journal of pathology》2005,447(6):969-977
Nuclear translocation of β-catenin has been correlated with epidermal growth factor receptor (EGFR) overexpression/activation
in nonsmall cell lung cancer. Less is known on β-catenin transactivation in high-grade pulmonary neuroendocrine tumors and
on the status of β-catenin activating EGFR and human epidermal growth factor receptor 2 (HER-2) or β-catenin target genes
cyclin D1 and matrix metalloproteinase-7 (MMP-7). β-catenin immunoreactivity was evaluated in 51 large-cell neuroendocrine
carcinomas (LCNEC) and 45 small-cell lung carcinomas (SCLC). Nineteen cases were assessed for β-catenin gene exon 3 mutations, expression of MMP-7, and expression/gene amplification of EGFR, HER-2, and cyclin D1. β-catenin was
expressed in all 96 high-grade neuroendocrine tumors, the vast majority (94%) showing >50% immunopositive cells. A disarrayed
immunoreactivity, however, was commonly encountered consisting in variably altered membrane-associated patterns of staining
along with progressive accumulation of cytoplasmic immunoreactivity. In LCNEC, but not in SCLC, the disarrayed patterns correlated
with EGFR and HER-2 protein expression. β-catenin nuclear accumulation was found in nine tumors, including seven LCNEC and
two SCLC, and was always associated with disarrayed immunoreactivity and increased MMP-7, but not cyclin D1 expression. These
cases, however, did not show β-catenin gene mutations or EGFR and HER-2 gene amplification or expression. No association was found between nuclear β-catenin and
any clinicopathological variable including patients' survival. The subcellular compartmentalization of β-catenin is profoundly
altered in high-grade pulmonary neuroendocrine tumors. A minor subset of these tumors shows β-catenin nuclear accumulation
in association with increased expression of MMP-7, but not of cyclin D1, independent of EGFR and HER-2 gene amplification
or expression.
The authors have no significant financial or other relationship with the manufacturers of any commercial products or commercial
services presented in this paper 相似文献
54.
Alberto Bacchi-Modena Pierfrancesco Bolis Carlo Campagnoli Fiorenzo De Cicco Michele Meschia Francesco Pansini Roberto Pisati Gabriele Hüls 《Maturitas》1997,27(3):285-292
Objectives: To assess the efficacy and tolerability of a new matrix patch delivering 0.05 mg estradiol per day (Estraderm MX 50) in postmenopausal women with moderate to severe postmenopausal symptoms. Methods: A multicenter, double-blin, randomized, between-patient, placebo controlled trial in 109 postmenopausal women was carried out. Patches were applied twice weekly for 12 weeks. Patients were assessed at 4, 8 and 12 weeks of treatment. The primary efficacy variable was change from baseline in mean number of moderate to severe hot flushes (including night sweats) per 24 h during the last 2 weeks of treatment. Other variables included Kupperman Index, local and systemic tolerability. Plasma concentrations of estradiol (E2), estrone (E1) and estrone sulfate (E1S) were determined before and after treatment. Results: Estraderm MX was significantly superior to placebo (P < 0.001) in reducing mean number of moderate to severe hot flushes (including night sweats) per 24 h after 4, 8 and 12 weeks of treatment. The estimate of treatment group differences after 12 weeks was 4.2 hot flushes (95% confidence interval: 2.6–5.5). Estraderm MX also significantly reduced Kupperman Index at all time points compared to placebo (P < 0.001). Estraderm MX induced increases in mean E2, E1 and E1S plasma levels as expected (E2: baseline 2.7 pg/ml, 12 weeks 38.9 pg/ml; E1: baseline 18.8 pg/ml, 12 weeks 41.6 pg/ml; E1S: baseline 235.6 pg/ml, 12 weeks 765.1 pg/ml). Overall rates of adverse experiences were similar for Estraderm MX and placebo. The number of patients reporting skin irritation was low and similar in both groups. Conclusions: Estraderm MX 50, a new matrix patch, offers an effective and well tolerated dosage form for transdermal delivery of 0.05 mg E2 per day. 相似文献
55.
The improvements in the motor ability in patients with Parkinson's disease due to antiparkinsonian medication is well-known and widely documented. Recent results, based both on kinematic parameters and standard electromyographic (EMG) signal analysis, clearly indicated that the medication reduced, as expected, the clinical signs of Parkinson's disease, but did not restore agonist burst duration modulation with distance in elbow flexion movements. The main aim of the present work is to shed more light on this medication effect using a wavelet analysis approach on multiple EMG signals recorded both on shoulder and elbow muscles in ballistic or rapid movements. The wavelet cross-correlation information allows us to evidence some important quantitative features of the EMG signals due to medication. 相似文献
56.
Combined reflectance and fluorescence spectroscopy for in vivo detection of cervical pre-cancer 总被引:1,自引:0,他引:1
Chang SK Mirabal YN Atkinson EN Cox D Malpica A Follen M Richards-Kortum R 《Journal of biomedical optics》2005,10(2):024031
Optical technologies, such as reflectance and fluorescence spectroscopy, have shown the potential to provide improved point-of-care detection methods for cervical neoplasia that are sensitive, specific, and cost-effective. Our specific goals are to analyze the diagnostic potential of reflectance and fluorescence spectra, alone and in combination, to discriminate normal and precancerous cervical tissue in vivo and to identify which classification features contain significant diagnostic information. Reflectance spectra are measured at four source-detector separations and fluorescence emission spectra are measured at 16 excitation wavelengths, from 324 sites in 161 patients. These 20 spectral features are permuted in all possible combinations of one, two, and three; and classification algorithms are developed to evaluate the diagnostic performance of each combination. Algorithms based on fluorescence spectra alone yield better diagnostic performance than those based on reflectance spectra alone. The combination of fluorescence and reflectance do not significantly improve diagnostic performance compared to fluorescence alone, except in the case of discriminating high-grade precancers from columnar normal tissue. In general, fluorescence emission spectra at 330- to 360-nm and 460- to 470-nm excitation provide the best diagnostic performance for separating all pairs of tissue categories. 相似文献
57.
O'Brien SG Guilhot F Larson RA Gathmann I Baccarani M Cervantes F Cornelissen JJ Fischer T Hochhaus A Hughes T Lechner K Nielsen JL Rousselot P Reiffers J Saglio G Shepherd J Simonsson B Gratwohl A Goldman JM Kantarjian H Taylor K Verhoef G Bolton AE Capdeville R Druker BJ;IRIS Investigators 《The New England journal of medicine》2003,348(11):994-1004
58.
Physical loading and performance as predictors of back pain in healthy adults A 5-year prospective study 总被引:4,自引:0,他引:4
Urho M. Kujala Simo Taimela Tero Viljanen Helena Jutila Jukka T. Vitasalo Tapio Videman Michele C. Battié 《European journal of applied physiology》1996,73(5):452-458
We investigated muscle strength, aerobic power, and occupational and leisure-time physical loading as predictors of back pain in a 5-year follow-up study. A cohort of 456 adults aged 25, 35, 45 and 55 years, free of back pain, participated in measurements of anthropometric characteristics, aerobic power and muscle strength characteristics at baseline. The subjects' levels and types of physical activity and occupational physical loading were also determined. At 5 years after the baseline examinations 356 of these subjects (78.1 %) were reached by mail, and 262 of them (73.6%) properly completed and returned a questionnaire including a detailed back pain history for the 5 years following the baseline measurements. Of this number 56 subjects (21 %) who reported back pain ( > 30 on a scale from 0 to 100) and functional impairment during the 5-year follow-up composed the marked back pain group. Other subjects (n = 71, 27%) noting lesser symptoms were included in the mild back pain group; 135 subjects (52%) reported having had no back pain. The subjects with marked back pain were on average taller than the subjects without back pain, while no such difference was found in body mass. Heavy occupational musculoskeletal loading (P = 0.005) and high general occupational physical demands (P = 0.036) predicted future back pain. Leisuretime physical activity, aerobic power or muscle strength characteristics were not predictive of future back pain. 相似文献
59.
Ferdinando Iellamo Jacopo Maria Legramante Filippo Castrucci Michele Massaro Gianfranco Raimondi Giuseppe Peruzzi Giuseppe Tallarida 《European journal of applied physiology》1993,66(5):381-387
Summary In recent studies in humans the role of cardiopulmonary baroreflexes in modulating the cardiovascular responses to isometric exercise (somatic pressor reflex) has been investigated by performing static hand-grip exercise during deactivation of cardiopulmonary receptors produced by low levels of lower body negative pressure; however, findings from these studies have not been consistent. The purpose of this study was to investigate whether a more physiological unloading stimulus of cardiopulmonary baroreceptors, obtained by sequentially changing posture, could influence the pressor response to somatic afferent stimulation induced by isometric, exercise. To accomplish this, ten healthy subjects performed a 2-min isometric handgrip (IHG) at 30% maximal voluntary contraction after 10 min of supine rest and, in rapid sequence, after 10 min of sitting and 10 min of standing, at the time when, owing to their transitory nature, the cardiovascular effects, due to arterial baroreceptor intervention should have been minimal. During IHG arterial pressure (BPa) was continuously and noninvasively measured to quantify accurately the blood pressure response to IHG both in magnitude and time course. Results showed that the pressor response to IHG was not significantly influenced by change in posture, either in magnitude or in time course. The mean arterial pressure increased by 17.4 (SEM 2.5), 18.6 (SEM 1.2) and 17.0 (SEM 1.3) mmHg in supine, sitting and standing [2.3 (SEM 0.3), 2.5 (SEM 0.2) and 2.3 (SEM 0.2) kPa] positions, respectively. Also the heart rate response to IHG was unaffected by change in posture. Most important, the sum of the separate BPa responses induced by supine IHG and by posture change from supine to sitting (summation of reflexes) was not significantly different from the pressor response observed during sitting IHG (interaction of reflexes). Likewise, the sum of the separate BPa. responses induced by sitting IHG and by changing postures from sitting to standing was not significantly different from the pressor response to standing IHG. These data indicate that, under physiological conditions, cardiopulmonary baroreflexes do not exert a significant role in modulating the reflex pressor drive from muscles during isometric exercise in healthy humans. 相似文献
60.