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71.
J.D. England MD G.S. Gronseth MD G. Franklin MD G.T. Carter MD L.J. Kinsella MD J.A. Cohen MD A.K. Asbury MD K. Szigeti MD PHD J.R. Lupski MD PHD N. Latov MD R.A. Lewis MD P.A. Low MD M.A. Fisher MD D. Herrmann MD J.F. Howard MD G. Lauria MD R.G. Miller MD M. Polydefkis MD A.J. Sumner MD American Academy of Neurology American Association of Neuromuscular Electrodiagnostic Medicine American Academy of Physical Medicine Rehabilitation 《Muscle & nerve》2009,39(1):116-125
Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence‐based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four‐tiered level of evidence scheme and recommendations were based on the level of evidence. (1) Screening laboratory tests may be considered for all patients with polyneuropathy (Level C). Those tests that provide the highest yield of abnormality are blood glucose, serum B12 with metabolites (methylmalonic acid with or without homocysteine), and serum protein immunofixation electrophoresis (Level C). If there is no definite evidence of diabetes mellitus by routine testing of blood glucose, testing for impaired glucose tolerance may be considered in distal symmetric sensory polyneuropathy (Level C). (2) Genetic testing is established as useful for the accurate diagnosis and classification of hereditary neuropathies (Level A). Genetic testing may be considered in patients with cryptogenic polyneuropathy who exhibit a hereditary neuropathy phenotype (Level C). Initial genetic testing should be guided by the clinical phenotype, inheritance pattern, and electrodiagnostic (EDX) features and should focus on the most common abnormalities, which are CMT1A duplication/HNPP deletion, Cx32 (GJB1), and MFN2 mutation screening. There is insufficient evidence to determine the usefulness of routine genetic testing in patients with cryptogenic polyneuropathy who do not exhibit a hereditary neuropathy phenotype (Level U). Muscle Nerve 39: 116–125, 2009 相似文献
72.
G. Lauria M. Gentile G. Fassetta I. Casetta F. Agnoli G. Andreotta C. Barp G. Caneve A. Cavallaro R. Cielo D. Mongillo M. Mosca P. Olivieri 《Acta neurologica Scandinavica》1996,93(4):291-296
Objectives – This study formed part of a larger prospective population-based survey on cerebrovascular diseases and aimed to provide reliable and comparable results on TIA incidence and on related risk factors, which could supply investigation objectives and support information for primary and secondary prevention. Material and methods – We undertook a prospective population-based study in the province of Belluno, an area located in the North-East of Italy where 211,389 people live, utilizing all the possible case-collection sources available in the territory. Results – In the first year of the study (June 1, 1992 to May 31, 1993) 271 patients with a diagnosis of transient ischemic attack were recruited. Among these, we recorded 171 cases of new TIAs. The crude annual incidence rate for new TIAs was 0.80 per 1000, 0.73 per 1000 for men and 0.87 per 1000 for women. After adjustment to the European population, the overall incidence rate decreased to 0.58 per 1000 inhabitants per year. The mean age of new TIA patients was 73.91 years and females were significantly older than males (p<0.001). A CT scan disclosed an infarct in 21 new TIA patients. Conclusion – Our first-year results on new TIAs incidence did not differ from the findings reported in previous population-based studies performed throughout the world and support data as to risk factors for TIA. 相似文献
73.
P L Zinzani F Lauria M Buzzi D Raspadori L Gugliotta M Bocchia S Macchi R Algeri S Tura 《Haematologica》1990,75(1):54-57
Hairy cell leukemia (HCL), a well-recognized chronic lymphoproliferative disorder, is frequently characterized by pancytopenia, monocytopenia, splenomegaly and marrow fibrosis, which typically leads to an unsuccessful bone marrow aspiration (dry tap). Patients with a high white cell count without neutropenia and/or monocytopenia, with an aspirable and hypercellular marrow, splenomegaly and neoplastic cells with hairy cell features have been recently recognized and classified as HCL variants. We report here the clinical, hematological and immunological features of 7 such cases. All patients presented splenomegaly with a high leukocyte count; 2 were anemic and only 1 thrombocytopenic. Five patients were treated with alpha-Interferon (alpha-IFN) but 4 failed to achieve any significant response; two of these were subsequently splenectomized and successfully treated with Chlorambucil. Splenectomy, followed by Chlorambucil, was performed at diagnosis in the remaining 2 cases, both of which achieved a partial response and are alive and well. Six out of the 7 patients are still alive. The recognition of these peculiar patients is also important because they most often do not respond to alpha-IFN, while splenectomy, followed by Chlorambucil, may be a reasonable therapeutic option for them. 相似文献
74.
P. L. Zinzani F. Lauria D. Rondelli D. Benfenati D. Raspadori M. Bocchia A. Gozzetti M. Cavo T. M. Cirio F. Zaja D. Russo R. Fanin P. Galieni R. Algeri M. Fiacchini S. Tura 《European journal of haematology》1993,51(2):93-97
Abstract: In this study, we evaluated the efficacy of fludarabine (FLU), an adenine nucleoside analogue, in 35 previously treated patients with advanced and progressed B-cell chronic lymphocytic leukemia (B-CLL) and in 6 at diagnosis. All patients were treated at a dose of 25 mg/m2 per day for 5 consecutive days (mean number of courses was 5, with a range from 4 to 6). The majority of patients experienced a beneficial effect on hematological parameters. In particular, a remarkable reduction of lymphocyte count together with an increase of neutrophils and platelets was observed. The overall response rate was 42% with 1 complete response and 16 partial responses. Ten patients achieved minor responses and the remaining 14 showed no benefit from treatment. An increased response rate was achieved in 6 untreated patients who showed an overall response rate of 67% (4/6). The major complications observed were neutropenia (66%) and febrile episodes (44%) that were generally infection-related and were fatal in 3 cases. Because we were dealing with patients whose disease was advanced and/or resistant to treatment, the overall results may be considered encouraging with acceptable toxic reactions not superior to those frequently observed with polychemotherapy. 相似文献
75.
A. Poleggi A. Bizzarro A. Acciarri P. Antuono S. Bagnoli E. Cellini G. Dal Forno C. Giannattasio A. Lauria M. G. Matera B. Nacmias M. Puopolo D. Seripa S. Sorbi D. R. Wekstein M. Pocchiari C. Masullo 《European journal of neurology》2008,15(2):173-178
Codon 129 polymorphism of the prion protein gene represents a major genetic risk factor for Creutzfeldt-Jakob disease (CJD). Both CJD and Alzheimer's disease (AD) are brain amyloidoses and it would be possible that codon 129 polymorphism plays a role in the susceptibility to AD. In order to investigate this polymorphism in AD the distribution of polymorphic codon 129 of the PRNP gene in 194 probable AD and 124 controls selected in Italy and 109 neuropathologically verified AD and 58 matched controls recruited in the USA was studied. No significant association was found for the PRNP polymorphism in AD compared to controls either in Probable or in Definite AD series even after stratification for APOE polymorphism. This study does not support a role of PRNP polymorphism as a susceptibility factor for AD. 相似文献
76.
One-hundred and eighty-eight patients with chronic lymphocytic leukemia were analyzed for prognosis based on Rai's staging system. It was found that stages I and II were not homogeneous as to prognosis. Stage II patients presenting with isolated splenomegaly had a long survival and were pooled with stage 0 patients (low risk group, 30% of cases, relative death rate 0.24, median survival greater than 10 yr). Stages I and II patients with a lymphocyte count higher than 40 x 10(9)/liter had a short survival and were pooled with stages III and IV patients (high risk group, 39% of cases, relative death rate 1.91, median survival 3.3 yr). Stages I and II patients with a lymphocyte count lower than 40 x 10(9)/liter made up an intermediate or standard risk group (31% of cases, relative death rate 1.00, median survival 6.2 yr). This modified staging system applied successfully to both old and young patients (more and less than 60 yr old, respectively). 相似文献
77.
78.
79.
A D Ho J Thaler F Mandelli F Lauria R Zittoun R Willemze G McVie A M Marmont O Prümmer P Stryckmans 《Journal of clinical oncology》1989,7(10):1533-1538
Interferon-alpha (IFN-a) or 2'-deoxycoformycin (pentostatin; DCF) have each been shown to be highly active in hairy-cell leukemia (HCL). In this phase II study of the Leukemia Cooperative Group of the European Organization for Research and Treatment of Cancer (EORTC), the efficacy and toxicity of DCF were investigated in patients who were resistant to IFN-a treatment. Resistance was defined as: (1) progressive disease (PD) under IFN-a therapy for more than 2 months; (2) stable disease (SD) after more than 6 months of IFN-a treatment; (3) relapse within 3 months of discontinuing IFN-a; and (4) intolerance to IFN-a because of World Health Organization (WHO) grade 3 or 4 toxicity. DCF was applied at a dosage of 4 mg/m2 weekly x 3, then 4 mg/m2 every other week x 3. Responders were given a maintenance therapy once per month for a maximum of 6 months. At the time of report, 33 patients with resistant disease were evaluable for response and toxicity. Median duration of IFN-a therapy before DCF administration was 14.7 months (range, 1 to 41 months). Complete remissions (CRs) were achieved in 11 patients and partial remissions (PRs) in 15, resulting in a total response rate of 78.8%. Median interval between beginning of DCF therapy to best response was 3.9 months with a range from 2.0 to 7.0 months. Two patients who achieved PR have relapsed 7 and 14 months after cessation of DCF therapy. The median duration of response was over 11.5 months (range, over 3.0 to over 24.0 months). Three patients died within the first 6 weeks of DCF treatment: one of drug-unrelated cardiomyopathy and two of fungal pneumonia. The patients with early death (n = 3) and nonresponsive disease (n = 4) received IFN-a treatment for a longer period (median, 18.0 months) than did the 26 responsive patients (median, 10.0 months). Major side effects included nausea, skin rash, and infections and were otherwise mild. Thus, DCF is highly active in patients with HCL resistant to IFN-a. 相似文献
80.