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U Picillo S Migliaresi M R Marcialis A Longobardo F La Palombara G Tirri 《Scandinavian journal of rheumatology》1992,21(6):271-276
One hundred and two patients suffering from systemic lupus erythematosus were observed over 5-140 months. IgG and IgM anticardiolipin antibodies (aCL) were searched for by ELISA in 448 serum samples, and were found in 88 (86.3%) patients on at least one occasion. Changes of aCL levels and isotypes were recorded in most patients. In patients with medium (20-80 U. GPL and/or MPL) and high (> 80 U. GPL and/or MPL) aCL levels associations with thrombosis, neurological manifestations, cerebrovascular disease, prolonged aPTT, and thrombocytopenia were found. A highly significant statistical association was found between IgG aCL and the occurrence of active disease (p < 0.0001). 相似文献
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Granata G Izzo T Di Micco P Bonamassa B Castaldo G Viggiano VG Picillo U Castaldo G Niglio A 《Thrombosis journal》2004,2(1):10-4
Some haematological diseases are associated to an increased risk of thromboembolic events. We report a case of paroxysmal nocturnal haemoglobinuria (PNH) in which a cerebrovascular event represented the first clinical manifestation of disease. PNH is associated to thromboembolic events, generally of venous districts often involving unusual locations such as mesenteric vessels, sagittal veins, inferior vena cava and renal veins.To our knowledge arterial thrombotic episodes are rare and the involvement of arterial cerebral vessels is exceptional. Then, our case points out the importance of investigating about haematological disorders in all patients presenting with a stroke, in which the common predisposing conditions are excluded. 相似文献
55.
Different antibody patterns and different prognoses in patients with scleroderma with various extent of skin sclerosis 总被引:12,自引:0,他引:12
M Giordano G Valentini S Migliaresi U Picillo M Vatti 《The Journal of rheumatology》1986,13(5):911-916
Ninety patients who fulfilled the ARA criteria for systemic sclerosis were divided into 6 groups on the basis of cutaneous areas of sclerosis. Anticentromere antibody (ACA) was found in 14 of 28 patients of the first 2 groups, the first group being pure sclerodactyly, and the second sclerodactyly plus minimal sclerotic lesions (eyelids, neck, armpits). In the other 4 groups (62 patients) in whom skin sclerosis was more diffuse, ACA was found in one case. Fluorescent antinuclear antibodies (FANA) with a diffusely grainy pattern, those with a nucleolar pattern and the anti-Scl-70 antibody were present in all 6 groups, but were significantly more frequent in the last 4 groups than in Groups 1 and 2. The cumulative survival rate as well as disease duration were found to be significantly longer in the first 2 groups designated "limited cutaneous systemic sclerosis," than in the 5th and 6th groups, i.e., patients in whom the trunk also was involved: "diffuse cutaneous systemic sclerosis." The cumulative survival rate and disease duration of patients with skin sclerosis of the face and limbs, but not of trunk, were not significantly different either from those of patients with limited cutaneous systemic sclerosis or from those of patients with diffuse cutaneous systemic sclerosis. Thus these patients show the same antibody pattern as diffuse cutaneous systemic sclerosis, but the prognosis not significantly different from the other 2 subsets. We suggest they constitute a distinct subset of systemic sclerosis for which we propose the name "intermediate cutaneous systemic sclerosis." 相似文献
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G. Iorio U. Picillo P. Santanelli S. Migliaresi V. Bonavita 《The Italian Journal of Neurological Sciences》1992,13(3):247-250
We report a case of systemic lupus erythematosus (SLE) in a young woman who presented a serious encephalopathy with respiratory distress and coma, after arbitrary interruption of oral corticosteroid therapy when her first pregnancy ended in abortion. The patient showed rapid improvement on methylprednisolone pulse therapy. The case suggests the utility of such a therapy in severe, non focal, CNS complications of SLE.
Sommario Viene descritto il caso di una giovane donna affetta da Lupus eritematoso sistemico (LES) che, dopo l'interruzione spontanea della terapia corticosteroidea orale in occasione della sua prima gravidanza esitata in aborto, presenta una grave encefalopatia con insufficienza respiratoria e coma. La somministrazione di alte dosi di metilprednisolone per via endovenosa (pulse therapy) determina una rapida e completa risoluzione della sintomatologia. Questo caso suggerisce l'utilità di questo tipo di trattamento nelle manifestazioni neurologiche acute e gravi in corso di LES.相似文献
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MDS PSP criteria in real‐life clinical setting: Motor and cognitive characterization of subtypes
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Claire Sandoe Vibhor Krishna Diellor Basha Francesco Sammartino Joao Tatsch Marina Picillo Lazzaro di Biase Yu-Yan Poon Clement Hamani Duemani Reddy Renato P. Munhoz Andres M. Lozano William D. Hutchison Alfonso Fasano 《Brain stimulation》2018,11(3):592-599
Background
Deep brain stimulation of the ventro-intermedius nucleus of the thalamus is an established treatment for tremor of differing etiologies but factors that may predict the short- and especially long-term outcome of surgery are still largely unknown.Methods
We retrospectively investigated the clinical, pharmacological, electrophysiological and anatomical features that might predict the initial response and preservation of benefit in all patients who underwent deep brain stimulation for tremor. Data were collected at the following time points: baseline (preoperative), one-year post-surgery, and most recent visit. Tremor severity was recorded using the Fahn-Tolosa-Marin Tremor Rating Scale and/or the Unified Parkinson's Disease Rating Scale.Results
A total of 52 patients were included in the final analysis: 31 with essential tremor, 15 with cerebellar tremor of different etiologies, and 6 with Parkinson's disease. Long-term success (mean follow-up duration 34.7 months, range 1.7–121.1 months) was reported in 63.5%. Predictors of long-term benefit were: underlying tremor etiology (best outcome in Parkinson's disease, worst outcome in cerebellar tremor); age at surgery (the older the better); baseline tremor severity (the greater the better); lack of response to benzodiazepines; a more anterior electrode placement and single-unit beta power (the greater the better).Conclusions
Specific patients' features (including single unit beta activity) and electrode locations may predict the short- and long-term benefit of thalamic stimulation for tremor. Future prospective studies enrolling a much larger sample of patients are needed to substantiate the associations detected by this retrospective study. 相似文献59.
Esther Picillo Annalaura Torella Luigia Passamano Vincenzo Nigro Luisa Politano 《Acta myologica》2022,41(2):95
Mutations in the genes encoding collagen VI cause Bethlem myopathy (MIM 158810), Ullrich congenital muscular dystrophy (MIM 254090), and myosclerosis myopathy (MIM #255600). BM is a dominantly inherited disorder, characterised by proximal muscle weakness and joint contractures mainly involving the elbows, ankles, and fingers, which usually follows a relatively mild course. By contrast, UCMD is a severe muscular dystrophy characterized by early onset, rapidly progressive muscle wasting and weakness, proximal joint contractures and distal joint hyperlaxity. Rapid progression usually leads to early death due to respiratory failure. UCMD is usually inherited as an autosomal recessive trait though dominant de novo heterozygous variants have recently been reported. We describe a further patient with UCMD classical presentation who showed, at the NGS analysis, the de novo variant c.6210+1G > A in the intron 16 of the gene COL6A3, known in the literature as pathogenic (VCV0000949S6.5).Key words: collagen VI disorders, Ullrich congenital muscular dystrophy, UCMD, COL6A3 相似文献
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