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31.
Galimberti D Venturelli E Fenoglio C Guidi I Villa C Bergamaschini L Cortini F Scalabrini D Baron P Vergani C Bresolin N Scarpini E 《Journal of neurology》2008,255(4):539-544
Cerebrospinal fluid (CSF) levels of interleukin (IL)-6, IL-11 and leukaemia inhibitory factor (LIF) were evaluated in 43 patients
with Alzheimer's disease (AD) and 24 patients with frontotemporal lobar degeneration (FTLD) as compared with 30 agematched
controls (CON), and correlated with clinical and demographic data and with CSF biomarkers amyloid beta (Aβ)42, total tau and
tau phosphorylated at position 181 (P-tau). CSF IL-11 mean levels were significantly increased in AD and FTLD as compared
with CON (6.5 ± 4.6 and 6.6 ± 5.1 versus 3.1 ± 3.3 pg/ml, P = 0.009). IL-6 mean levels did not differ between patients and CON (P > 0.05),whereas LIF levels were not detectable in patients or in CON. In AD patients, a significantly positive correlation
between MMSE scores and IL-11 CSF concentration was observed (r = 0.344, P = 0.028). No correlations with CSF Aβ42, total tau and P-tau were found. IL-11, but not IL-6 levels are increased in AD and
FTLD, and the highest peaks were observed in patients with a less severe degree of cognitive deterioration, therefore suggesting
a role of this cytokine in early phases of neurodegeneration. 相似文献
32.
Lucchiari S Pagliarani S Corti S Mancinelli E Servida M Fruguglietti E Sansone V Moggio M Bresolin N Comi GP Meola G 《Journal of the neurological sciences》2008,275(1-2):159-163
Myotonic dystrophy type 2 (DM2) is an autosomal dominant multisystemic disorder caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. We present a three first-degree relative Italian family (proband, his mother and his sister) with a mild DM2 phenotype associated with a short (CCTG)(100) expansion as far as regards the proband and his mother, while his sister shows larger expansion correlated to a more severe phenotype. FISH analysis with (CAGG)(5) probe demonstrated that nuclear foci of mutant RNA were present in the proband muscle and co-localized with muscleblind-like proteins, determining their sequestration in the nucleus. This is one of the smallest expansion reported and the shortest with the evidence of nuclear foci. These data contribute to the clinical and molecular correlation of ZNF9 gene short expansion. 相似文献
33.
Effect of human skin-derived stem cells on vessel architecture, tumor growth, and tumor invasion in brain tumor animal models 总被引:1,自引:0,他引:1
Pisati F Belicchi M Acerbi F Marchesi C Giussani C Gavina M Javerzat S Hagedorn M Carrabba G Lucini V Gaini SM Bresolin N Bello L Bikfalvi A Torrente Y 《Cancer research》2007,67(7):3054-3063
Glioblastomas represent an important cause of cancer-related mortality with poor survival. Despite many advances, the mean survival time has not significantly improved in the last decades. New experimental approaches have shown tumor regression after the grafting of neural stem cells and human mesenchymal stem cells into experimental intracranial gliomas of adult rodents. However, the cell source seems to be an important limitation for autologous transplantation in glioblastoma. In the present study, we evaluated the tumor targeting and antitumor activity of human skin-derived stem cells (hSDSCs) in human brain tumor models. The hSDSCs exhibit tumor targeting characteristics in vivo when injected into the controlateral hemisphere or into the tail vein of mice. When implanted directly into glioblastomas, hSDSCs distributed themselves extensively throughout the tumor mass, reduced tumor vessel density, and decreased angiogenic sprouts. In addition, transplanted hSDSCs differentiate into pericyte cell and release high amounts of human transforming growth factor-beta1 with low expression of vascular endothelial growth factor, which may contribute to the decreased tumor cell invasion and number of tumor vessels. In long-term experiments, the hSDSCs were also able to significantly inhibit tumor growth and to prolong animal survival. Similar behavior was seen when hSDSCs were implanted into two different tumor models, the chicken embryo experimental glioma model and the transgenic Tyrp1-Tag mice. Taken together, these data validate the use of hSDSCs for targeting human brain tumors. They may represent therapeutically effective cells for the treatment of intracranial tumors after autologous transplantation. 相似文献
34.
Parkinson's disease and brain mitochondrial dysfunction: a functional phosphorus magnetic resonance spectroscopy study. 总被引:4,自引:0,他引:4
Mario Rango Cristiana Bonifati Nereo Bresolin 《Journal of cerebral blood flow and metabolism》2006,26(2):283-290
In spite of several evidences for a mitochondrial impairment in Parkinson's disease (PD), so far it has not been possible to show in vivo mitochondrial dysfunction in the human brain of PD patients. The authors used the high temporal and spatial resolution 31 phosphorus magnetic resonance spectroscopy (31P MRS) technique, which they have previously developed in normal subjects and in patients with mitochondrial diseases to study mitochondrial function by observing high-energy phosphates (HEPs) and intracellular pH (pH) in the visual cortex of 20 patients with PD and 20 normal subjects at rest, during, and after visual activation. In normal subjects, HEPs remained unchanged during activation, but rose significantly (by 16%) during recovery, and pH increased during visual activation with a slow return to rest values. In PD patients, HEPs were within the normal range at rest and did not change during activation, but fell significantly (by 36%) in the recovery period; pH did not reveal a homogeneous pattern with a wide spread of values. Energy unbalance under increased oxidative metabolism requirements, that is, the postactivation phase, discloses a mitochondrial dysfunction that is present in the brain of patients with PD even in the absence of overt clinical manifestations, as in the visual cortex. This is in agreement with our previous findings in patients with mitochondrial disease without clinical central nervous system (CNS) involvement. The heterogeneity of the physicochemical environment (i.e., pH) suggests various degrees of subclinical brain involvement in PD. The combined use of MRS and brain activation is fundamental for the study of brain energetics in patients with PD and may prove an important tool for diagnostic purposes and, possibly, to monitor therapeutic interventions. 相似文献
35.
Giuseppe Vita Alba Migliorato Antonio Toscano Andreina Bordoni Nereo Bresolin Agata Fiumara Corrado Messina 《Muscle & nerve》1994,17(6):655-661
Immunocytochemistry of dystrophin, spectrin, vinculin (sarcolemmaspecific proteins), and desmin (an intermediate filament protein) were investigated in 5 patients with acid maltase deficiency (AMD). One patient had infant onset, 2 had childhood onset, and 2 had adult onset. All had a vacuolar myopathy with autophagic vacuoles containing glycogen and cytoplasmic degradation products. Dystrophin, spectrin, and vinculin were localized at the sarcolemma as in normal muscle fibers. Within the cytoplasm of many fibers, immunoreactivity for the three proteins was seen as single or multiple spots or as circular structures, which most likely corresponded to the limiting membrane of vacuoles. Desmin was overexpressed at the periphery of some vacuoles. It is plausible that, before exocytosis occurs, sarcolemma-specific proteins appear within the vacuole membrane. Vacuole immunolabeling frequently occurred in the patients with childhood and adult onset AMD, but very rarely occurred in the case with infant onset. We hypothesize that a reduced exocytosis rate might explain the infrequent vacuole immunolabeling and the early onset of the infant form of the disease. © 1994 John Wiley & Sons, Inc. 相似文献
36.
Tonelli A Gallanti A Bersano A Cardin V Ballabio E Airoldi G Redaelli F Candelise L Bresolin N Bassi MT 《Clinical genetics》2007,72(6):517-523
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura inherited with an autosomal dominant pattern. Here, we report the genetic analysis of four families and one sporadic case with hemiplegic migraine (HM) in whom we searched for mutations in the three genes associated with the disease CACNA1A, ATP1A2 and SCN1A. Two novel amino acid changes p.Arg65Trp and p.Tyr9Asn, in the Na,K-adenosine triphosphatase (ATPase) alpha-2 subunit encoded by the ATP1A2 gene, were found in one FHM family and in the sporadic case, respectively. These mutations are peculiar for their location in the extreme N-terminus, an uncommon mutation target in this protein. Low frequency of migraine attacks in all our mutant patients with low complexity of the associated aura symptoms in the sporadic case is also observed. Besides the two novel mutations, the data here reported confirm the involvement of ATP1A2 gene in the sporadic form of HM, while the negative results on the other families tested for all genes known in HM strengthen the hypothesis of the existence of at least another locus involved in FHM. 相似文献
37.
38.
Kerr SH Valdiserri RO Loft J Bresolin L Holtgrave D Moore M MacGowan R Marder W Rinaldi R 《AIDS patient care and STDs》1996,10(4):227-235
A national random-sample survey of 4011 primary care physicians was conducted to determine the extent to which they are providing HIV prevention and clinical services, and to learn what characteristics and attitudes might impede the provision of such services. Physicians were asked about their history-taking practices for new adult and adolescent patients, including asking about the use of illicit drugs (injection and noninjection), the number of sexual partners, use of condoms and contraceptives, past episodes of sexually transmitted diseases (STDs), sexual orientation, and sexual contact with partner(s) at high risk for HIV. A preliminary analysis was conducted and reported earlier by the Centers for Disease Control and Prevention (CDC), focusing on the HIV-prevention services being provided by primary care physicians. This report provides additional analyses from this study, focusing on characteristics and attitudes that may prevent physicians from providing these services. Male physicians and the physicians' belief that patients would be offended if asked questions about their sex behaviors were strongly predictive of not asking new patients about their sex and drug behaviors. The physician's specialty was also a strong predictor-OB/GYNs were predictive of asking these questions and GP/FPs were predictive of not asking the questions. Physicians who indicated that a majority of their patients were white were less likely to report asking patients about their sex and drug behaviors. The authors conclude that a substantial number of primary care physicians are missing important opportunities to prevent HIV transmission by not adequately assessing patients' risks and not providing necessary risk-reduction counseling during their physician-patient encounters. Physician's attitudes and beliefs about their patients, as well as their level of experience with HIV, may help to explain these observations. 相似文献
39.
Peripheral neuropathy in mitochondrial disease 总被引:4,自引:0,他引:4
G Pezeshkpour C Krarup F Buchthal S DiMauro N Bresolin J McBurney 《Journal of the neurological sciences》1987,77(2-3):285-304
Clinical, electrophysiological, histological and biochemical studies of two patients with mitochondrial disease revealed a moderately advanced axonal neuropathy with mitochondrial paracrystalline inclusions in Schwann cells, fibroblasts and muscle fibers. In addition there was a myopathy, and the activity of muscle cytochrome c oxidase was diminished by more than 50%. There were electrophysiological signs of myopathy, neuropathy and failure of excitation-contraction coupling in both patients. The partial enzyme deficiency raises some questions as to its pathogenetic role in these neuromyopathies. 相似文献
40.
Clinical and biochemical correlations in mitochondrial myopathies treated with coenzyme Q10 总被引:3,自引:0,他引:3
N Bresolin L Bet A Binda M Moggio G Comi F Nador C Ferrante A Carenzi G Scarlato 《Neurology》1988,38(6):892-899
We tested the efficacy of coenzyme Q10 (ubidecarenone, CoQ10) therapy in patients with Kearns-Sayre syndrome and other mitochondrial myopathies with chronic progressive external ophthalmoplegia (CPEO). We treated seven patients for 1 year with daily oral administration of 120 mg of CoQ10. Throughout the treatment most of our patients showed a progressive reduction of serum lactate and pyruvate levels following standard muscle exercise and generally improved neurologic functions. The ECG and echocardiogram showed no significant changes in our patients. None of our patients showed any improvement in ptosis and CPEO. 相似文献