排序方式: 共有16条查询结果,搜索用时 15 毫秒
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Diamanti Luca Borrelli Paola Dubbioso Raffaele Capasso Margherita Morelli Claudia Lunetta Christian Petrucci Antonio Mora Gabriele Volanti Paolo Inghilleri Maurizio Tremolizzo Lucio Mandrioli Jessica Mazzini Letizia Vedovello Marcella Siciliano Gabriele Filosto Massimiliano Mat Sabrina Montomoli Cristina 《Neurological sciences》2022,43(5):3195-3200
Neurological Sciences - Dysphagia is a common symptom during the trajectory of ALS, and it can significantly impact on the quality of life and prognosis of patients. Nowadays, no specific tool for... 相似文献
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Cell death and growth arrest in response to photodynamic therapy with membrane-bound photosensitizers 总被引:7,自引:0,他引:7
Piette J Volanti C Vantieghem A Matroule JY Habraken Y Agostinis P 《Biochemical pharmacology》2003,66(8):1651-1659
Photodynamic therapy (PDT) is a treatment for cancer and for certain benign conditions that is based on the use of a photosensitizer and light to produce reactive oxygen species in cells. Many of the photosensitizers currently used in PDT localize in different cell compartments such as mitochondria, lysosomes, endoplasmic reticulum and generate cell death by triggering necrosis and/or apoptosis. Efficient cell death is observed when light, oxygen and the photosensitizer are not limiting ("high dose PDT"). When one of these components is limiting ("low dose PDT"), most of the cells do not immediately undergo apoptosis or necrosis but are growth arrested with several transduction pathways activated. This commentary will review the mechanism of apoptosis and growth arrest mediated by two important PDT agents, i.e. pyropheophorbide and hypericin. 相似文献
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The epidemiology of amyotrophic lateral sclerosis in the Mount Etna region: a possible pathogenic role of volcanogenic metals
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Sabatelli M Conforti FL Zollino M Mora G Monsurrò MR Volanti P Marinou K Salvi F Corbo M Giannini F Battistini S Penco S Lunetta C Quattrone A Gambardella A Logroscino G Simone I Bartolomei I Pisano F Tedeschi G Conte A Spataro R La Bella V Caponnetto C Mancardi G Mandich P Sola P Mandrioli J Renton AE Majounie E Abramzon Y Marrosu F Marrosu MG Murru MR Sotgiu MA Pugliatti M Rodolico C;ITALSGEN Consortium Moglia C Calvo A Ossola I Brunetti M Traynor BJ Borghero G Restagno G Chiò A 《Neurobiology of aging》2012,33(8):1848.e15-1848.e20
It has been recently reported that a large proportion of patients with familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with a hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We have assessed 1757 Italian sporadic ALS cases, 133 from Sardinia, 101 from Sicily, and 1523 from mainland Italy. Sixty (3.7%) of 1624 mainland Italians and Sicilians and 9 (6.8%) of the 133 Sardinian sporadic ALS cases carried the pathogenic repeat expansion. None of the 619 regionally matched control samples (1238 chromosomes) carried the expansion. Twenty-five cases (36.2%) had behavioral FTD in addition to ALS. FTD or unspecified dementia was also detected in 19 pedigrees (27.5%) in first-degree relatives of ALS patients. Cases carrying the C9ORF72 hexanucleotide expansion survived 1 year less than cases who did not carry this mutation. In conclusion, we found that C9ORF72 hexanucleotide repeat expansions represents a sizeable proportion of apparent sporadic ALS in the Italian and Sardinian population, representing by far the most common mutation in Italy and the second most common in Sardinia. 相似文献
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Cardiovascular diseases may play a negative role in the prognosis of amyotrophic lateral sclerosis
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J. Mandrioli L. Ferri A. Fasano E. Zucchi N. Fini C. Moglia C. Lunetta K. Marinou N. Ticozzi G. Drago Ferrante C. Scialo G. Sorarù F. Trojsi A. Conte Y. M. Falzone R. Tortelli M. Russo V. A. Sansone G. Mora V. Silani P. Volanti C. Caponnetto G. Querin M. R. Monsurrò M. Sabatelli A. Chiò N. Riva G. Logroscino S. Messina A. Calvo 《European journal of neurology》2018,25(6):861-868
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CSF neurofilament proteins as diagnostic and prognostic biomarkers for amyotrophic lateral sclerosis
Daniela?Rossi Paolo?Volanti Liliana?Brambilla Tiziana?Colletti Rossella?Spataro Vincenzo?La BellaEmail authorView authors OrcID profile 《Journal of neurology》2018,265(3):510-521
Elevated cerebrospinal fluid (CSF), Neurofilament Light (NF-L) and phosphorylated Heavy (pNF-H) chain levels have been found in Amyotrophic Lateral Sclerosis (ALS), with studies reporting a correlation of both neurofilaments (NFs) with the disease progression. Here, we measured NF-L and pNF-H concentrations in the CSF of ALS patients from a single tertiary Center and investigated their relationship with disease-related variables. A total of 190 ALS patients (Bulbar, 29.9%; Spinal, 70.1%; M/F = 1.53) and 130 controls with mixed neurological diseases were recruited. Demographic and clinical variables were recorded, and ΔFS was used to rate the disease progression. Controls were divided into two cohorts: (1) patients with non-inflammatory neurological diseases (CTL-1); (2) patients with acute/subacute inflammatory diseases and tumors, expected to lead to significant axonal and tissue damage (CTL-2). For each patient and control, CSF was taken at the time of the diagnostic work-up and stored following the published guidelines. CSF NF-L and pNF-H were assayed with commercially available ELISA-based methods. Standard curves (from independent ELISA kits) were highly reproducible for both NFs, with a coefficient of variation < 20%. We found that CSF NF-L and pNF-H levels in ALS were significantly increased when compared to CTL-1 (NF-L: ALS, 4.7 ng/ml vs CTL-1, 0.61 ng/ml, p < 0.001; pNF-H: ALS, 1.7 ng/ml vs CTL-1, 0.03 ng/ml, p < 0.0001), but not to CTL-2. Analysis of different clinical and prognostic variables disclosed meaningful correlations with both NF-L and pNF-H levels. Our results, from a relatively large ALS cohort, confirm that CSF NF-L and pNF-H represent valuable diagnostic and prognostic biomarkers in ALS. 相似文献
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M. Mannino E. Cellura G. Grimaldi P. Volanti F. Piccoli V. La Bella 《European journal of neurology》2007,14(1):79-84
The relentless evolution of amyotrophic lateral sclerosis (ALS), a severe neurodegenerative disorder of the upper and lower motoneurons, leads to an increasing level of disability. Most patients, during the course of the disease, become unable to attend the tertiary clinical care center and are thus prevented from enrolling in clinical trials or benefiting from specialized care and management. The main objective of this study was to verify whether the ALS functional rating scale (ALSFRS) could be reliably administered by telephone to patients, when unable to attend the ALS clinic, or to their caregivers. ALSFRS is a validated instrument that assesses the functional status and the disease progression in ALS. We first administered the functional rating scale directly in the clinic to 30 patients, with definite or probable ALS, and to their respective caregivers, and found a very high agreement between the two groups for the total score and the majority of the rating items. Next, we showed, in both patients and caregivers, a high degree of correlation between the total score of the ALSFRS measured by telephone and that reported in the clinic. This indicates that ALSFRS is a reliable instrument for monitoring the disease progression in homebound patients, even when the person contacted by telephone is the caregiver. We also performed a telephone clinic, based on an unstructured interview, with 16 ALS patients at an advanced stage of the disease and unable to attend the ALS clinic. On some occasions, the person interviewed was the caregiver. The symptoms most frequently reported were a worsening of muscle strength, swallowing and breathing problems, constipation, and inability to clear lung secretions. Several patients asked for assistive and adaptive equipment. All patients and caregivers found the telephone clinic very useful and considered it a good complement to the management and care programme. 相似文献
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