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1.
J Neurol Neurosurg Psychiatry ; 94(8): 614-621, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37015771

RESUMO

BACKGROUND: To assess the ability of the 2021 European Academy of Neurology/Peripheral Nerve Society (EAN/PNS) clinical criteria for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) to include within their classification the whole spectrum of clinical heterogeneity of the disease and to define the clinical characteristics of the unclassifiable clinical forms. METHODS: The 2021 EAN/PNS clinical criteria for CIDP were applied to 329 patients fulfilling the electrodiagnostic (and in some cases also the supportive) criteria for the diagnosis of CIDP. Clinical characteristics were reviewed for each patient not strictly fulfilling the clinical criteria ('unclassifiable'). RESULTS: At study inclusion, 124 (37.5%) patients had an unclassifiable clinical presentation, including 110 (89%) with a typical CIDP-like clinical phenotype in whom some segments of the four limbs were unaffected by weakness ('incomplete typical CIDP'), 10 (8%) with a mild distal, symmetric, sensory or sensorimotor polyneuropathy confined to the lower limbs with cranial nerve involvement ('cranial nerve predominant CIDP') and 4 (1%) with a symmetric sensorimotor polyneuropathy limited to the proximal and distal areas of the lower limbs ('paraparetic CIDP'). Eighty-one (65%) patients maintained an unclassifiable presentation during the entire disease follow-up while 13 patients progressed to typical CIDP. Patients with the unclassifiable clinical forms compared with patients with typical CIDP had a milder form of CIDP, while there was no difference in the distribution patterns of demyelination. CONCLUSIONS: A proportion of patients with CIDP do not strictly fulfil the 2021 EAN/PNS clinical criteria for diagnosis. These unclassifiable clinical phenotypes may pose diagnostic challenges and thus deserve more attention in clinical practice and research.


Assuntos
Polineuropatias , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica , Humanos , Polirradiculoneuropatia Desmielinizante Inflamatória Crônica/diagnóstico , Nervos Periféricos , Nervos Cranianos , Fenótipo , Condução Nervosa/fisiologia
2.
Neurol Sci ; 39(5): 835-839, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29445989

RESUMO

Parkinson's disease (PD) is a neurodegenerative disorder which affects the quality of life of patient and their family. Sleep disorders appear in 80-90% of PD patients and have a great impact on the PD well-being. We examined the relationship of patients' sleep quality and depression on burden, mood, quality of life, and quality of sleep of their caregivers. A multicenter, regional (Veneto), observational, cross-sectional study that included 55 patient-caregiver pairs was conducted. Patients were assessed using Parkinson's Disease Sleep Scale (PDSS) and Epworth Sleepiness Scale (ESS) for sleep disorders, Beck Depression Inventory (BDI) as a measure of depression, and Parkinson's Disease Questionnaire (PDQ-39) as a measure of quality of life. Caregivers were evaluated by the Caregiver Burden Inventory (CBI) a measure of burden, BDI, SF-36 Health Survey as measures of HRQoL, and Medical Outcomes Study-Sleep Scale (MOS-SS) for quality of sleep. CBI, HRQoL, MOS-SS, and BDI scores displayed no association with patients' age, cognition (Mini Mental State Examination (MMSE) and Frontal Assessment Battery (FAB)), disease duration, and Hoehn and Yahr (H&Y), and UPDRS III scales whereas were significantly correlated with patients' quality of sleep, depression, and quality life. CBI and HRQoL were also associated respectively with patients' ESS and L-dopa daily dose. This study underscores the presence of a significant relationship between patient and caregiver quality of life. Interestingly, sleep quality and depression rather than motor disability best predicted caregivers' well-being.


Assuntos
Cuidadores , Efeitos Psicossociais da Doença , Doença de Parkinson/complicações , Transtornos do Sono-Vigília/complicações , Idoso , Antiparkinsonianos/uso terapêutico , Cuidadores/psicologia , Estudos Transversais , Depressão/complicações , Depressão/terapia , Avaliação da Deficiência , Dopaminérgicos/uso terapêutico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/psicologia , Doença de Parkinson/terapia , Qualidade de Vida , Sono , Transtornos do Sono-Vigília/psicologia , Transtornos do Sono-Vigília/terapia
3.
J Neurol ; 270(3): 1452-1456, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36383259

RESUMO

OBJECTIVE: To validate an Italian version of the Rasch-Built Overall ALS Disability Scale (ROADS) in a broad population of patients and assess its longitudinal performance over time. METHODS: 270 ALS patients referring to the Motor Neuron Disease Clinic of the University of Padova and Modena (Italy) accepted to compile the Italian version of the ROADS and results were correlated with the ALSFRSr and ALSAQ-40 scores, FVC values, and creatinine or albumin blood levels. To verify test-retest reliability, patients were asked to fill in a second copy of the scale within 5-7 days. Thirty-nine patients compiled a further copy of questionnaire during the follow up visit (after 133 days on average) which allowed us a longitudinal assessment of the scale. RESULTS: We found a good external construct validity between ROADS and either ALSFRS-R (correlation coefficient = 0.85) or ALSAQ-40 (correlation coefficient = - 0.84). Test-retest reliability was excellent with a concordance-correlation coefficient of 0.93. Yet, we observed a significant correlation between changes over time of the ROADS normalised sum score (- 2.18 point loss per month) and those of both the ALSFRS-R (positive correlation; Rho = 0.64, p ≤ 0.0001) or the ALSAQ-40 (negative correlation; Rho = - 0.60, p = 0.014). CONCLUSIONS: The Italian version of ROADS proved to be a reliable marker to monitor overall disability in ALS patients. Further studies are necessary to assess its longitudinal performance.


Assuntos
Esclerose Lateral Amiotrófica , Doença dos Neurônios Motores , Humanos , Esclerose Lateral Amiotrófica/diagnóstico , Reprodutibilidade dos Testes , Atividades Cotidianas , Inquéritos e Questionários , Itália
4.
Neurol Sci ; 31(6): 837-9, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20730466

RESUMO

E200K mutation of the prion protein gene (PRNP) presented with a variety of phenotypes. A 55-year-old woman complaining of slowly progressive walking difficulties came to our observation. She showed a severe progressive ataxo-spastic syndrome but a mild cognitive impairment only. Repeated EEGs showed a diffuse slowing of the rhythm without specificity. Brain MRI revealed by FLAIR showed widespread multiple hyperintensities in the whole cerebral cortex, caudate and putamen nuclei, and in the pulvinar and medial thalamus bilaterally. These signal abnormalities were best detected by DWI with restricted diffusion on ADC map. The clinical diagnosis of possible genetic Creutzfeldt-Jakob disease (CJD) has been confirmed by PRNP gene analysis which revealed the presence of a E200K mutation. This report confirms the heterogeneity of phenotypes in E200K mutated familial CJD with the occurrence of a new phenotype not previously described.


Assuntos
Síndrome de Creutzfeldt-Jakob/genética , Síndrome de Creutzfeldt-Jakob/patologia , Mutação Puntual/genética , Príons/genética , Substituição de Aminoácidos/genética , Feminino , Heterogeneidade Genética , Ácido Glutâmico/genética , Humanos , Lisina/genética , Pessoa de Meia-Idade , Fenótipo , Proteínas Priônicas
5.
Ann N Y Acad Sci ; 1132: 76-83, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18567856

RESUMO

Myasthenia gravis (MG) with antibodies against the muscle-specific tyrosine kinase (MuSK abs) is often a severe disease requiring aggressive treatment. Various immunosuppressive (IS) regimens have been employed; the efficacy of plasma exchange is unanimously recognized, while the indication for thymectomy is controversial. We evaluated the response to therapy in 57 MuSK-positive patients (12 M/45 F) comparing our experience with other authors' results. Disease severity and response to treatment were graded according to MG Foundation of America; follow-up ranged from 0.5-29 years. Owing to both MG severity and the unsatisfactory response to cholinesterase inhibitors, most patients (54/57) needed IS treatment, and 35 received one or more courses of plasma exchange and intravenous immunoglobulin. At the end of follow-up, the rate of complete remission was 8.8%, and IS treatment had been withdrawn in only 10/54 patients. The extent of therapeutic response varied considerably. With conventional IS therapy (prednisone alone or in combination with azathioprine or cyclosporine), most patients achieved good control of their disease, but 30% of them were left with permanent facial and bulbar weakness. In patients with refractory disease, the use of mycophenolate mofetil and rituximab proved very effective, as also reported by other authors. In our and others' experience, MuSK-positive MG markedly improves with IS therapy, although, in comparison with the AChR-positive disease, it is characterized by a lower remission rate, as a higher proportion of patients remain dependent on treatment. Thymectomy is mostly considered scarcely effective; however, at present, no firm conclusions can be drawn on its role in the treatment of this form of MG.


Assuntos
Anticorpos/imunologia , Anticorpos/uso terapêutico , Miastenia Gravis/imunologia , Miastenia Gravis/terapia , Receptores Proteína Tirosina Quinases/imunologia , Receptores Proteína Tirosina Quinases/metabolismo , Receptores Colinérgicos/imunologia , Receptores Colinérgicos/metabolismo , Adolescente , Adulto , Idoso , Criança , Inibidores da Colinesterase/uso terapêutico , Feminino , Seguimentos , Humanos , Imunoterapia , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/enzimologia , Miastenia Gravis/patologia , Receptores Proteína Tirosina Quinases/antagonistas & inibidores
7.
J Neurol ; 254(6): 756-62, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17325820

RESUMO

BACKGROUND: Thymoma is frequently associated with paraneoplastic diseases (PDs), most commonly with myasthenia gravis (MG). This association is thought to depend on thymoma's capacity to produce and export T lymphocytes. OBJECTIVE: (1) To determine the frequency and characteristics of thymoma-associated PDs other than MG; (2) to evaluate T cell maturation in thymomas with and without PDs. METHODS: We studied 260 patients with thymoma (associated with MG in 228). The occurrence of PDs was monitored together with the tumor outcome. Phenotypic characterization of thymocyte subsets in 14 thymoma samples (7 with and 7 without MG) was performed by FACS. RESULTS: A total of 47 PDs was diagnosed in 41/260 patients (15.8 %). Neurological PDs included neuromyotonia, limbic encephalitis, polymyositis, subacute hearing loss, psychosis and sleep disorders. A broad spectrum of nonneurological PDs were observed, among these, hematological and cutaneous diseases prevailed. Like MG, these disorders occurred either in the presence of the thymoma or at different times after thymomectomy; their onset often heralded a tumor recurrence. In thymomas from MG subjects, we found an increased proportion of fully mature CD4 single positive (SP) thymocytes and a reduced frequency of CD4SPCD25(+) cells; the latter finding may reflect a deficient generation of T regulatory cells, a reduced intratumorous activation of T cells, or both. CONCLUSIONS: We confirm the strong association of thymoma with PDs. These disorders often occurred in MG patients and their course in relation to thymoma was similar to that of MG. In accordance with previous observations, we found some alterations in the intratumorous production of mature CD4(+) T cells that could be involved in the pathogenesis of paraneoplastic autoimmunity.


Assuntos
Síndromes Paraneoplásicas/epidemiologia , Síndromes Paraneoplásicas/imunologia , Timoma/epidemiologia , Timoma/imunologia , Neoplasias do Timo/epidemiologia , Neoplasias do Timo/imunologia , Adolescente , Adulto , Idoso , Contagem de Linfócito CD4 , Linfócitos T CD4-Positivos/imunologia , Diferenciação Celular/imunologia , Proliferação de Células , Comorbidade , Feminino , Citometria de Fluxo , Humanos , Imunofenotipagem , Subpopulações de Linfócitos/citologia , Subpopulações de Linfócitos/imunologia , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/epidemiologia , Miastenia Gravis/imunologia , Miastenia Gravis/fisiopatologia , Síndromes Paraneoplásicas/diagnóstico , Prevalência , Receptores de Antígenos de Linfócitos T/imunologia , Estudos Retrospectivos , Linfócitos T/citologia , Linfócitos T/imunologia , Timoma/fisiopatologia , Neoplasias do Timo/fisiopatologia
9.
J Clin Immunol ; 28(2): 194-206, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18000743

RESUMO

We analyzed thymocyte and thymic regulatory T cell (CD4SPCD25+Foxp3+cells, Treg) development in thymoma with and without myasthenia gravis (MG, MG-thymoma, non-MG-thymoma) and in MG-associated non-neoplastic thymus (MG-NNT). An increased number of immature CD4+CD8(-)CD3(-) thymocytes through the CD4+CD8+ to CD4+CD8(-) transition and an abnormal T cell receptor Vbeta (TCRVbeta) development through the CD4+CD8+ to CD4(-)CD8+ transition were seen both in MG-and non-MG-thymomas. Terminal thymopoiesis, i.e., CD45RA+ cells within the CD4+CD8(-)CD3+ and CD8+CD4(-)CD3+ subsets, was skewed towards the CD4+ compartment in MG-thymoma and CD8+ compartment in non-MG-thymoma, but thymic export was increased only in the latter in keeping with the hypothesis that CD8+ lymphocytes may play a role in the initial stages of autosensitization and in disagreement with the relevance of an increased output of CD4+ T lymphocytes in paraneoplastic MG. Treg level in normal thymus and MG-NNT and both MG- and non-MG-thymoma was similar, and TCRVbeta development in Treg cells was slightly altered in thymoma but irrespective of MG presence. Thus, the relevance of a defective Treg development in MG context remains to be established. Most alterations in thymopoiesis were corrected by therapeutic corticosteroid administration, and the effects of steroid administration may be mediated by thymic microenvironment.


Assuntos
Corticosteroides/farmacologia , Miastenia Gravis/imunologia , Receptores de Antígenos de Linfócitos T alfa-beta/análise , Subpopulações de Linfócitos T/imunologia , Linfócitos T Reguladores/imunologia , Timoma/imunologia , Timo/imunologia , Adolescente , Corticosteroides/uso terapêutico , Adulto , Idoso , Antígenos CD/análise , Complexo CD3/análise , Contagem de Linfócito CD4 , Linfócitos T CD8-Positivos/citologia , Linfócitos T CD8-Positivos/imunologia , Feminino , Fatores de Transcrição Forkhead/análise , Humanos , Imunofenotipagem , Subunidade alfa de Receptor de Interleucina-2/análise , Antígenos Comuns de Leucócito/análise , Contagem de Linfócitos , Masculino , Pessoa de Meia-Idade , Miastenia Gravis/complicações , Miastenia Gravis/tratamento farmacológico , Prednisona/farmacologia , Prednisona/uso terapêutico , Subpopulações de Linfócitos T/citologia , Subpopulações de Linfócitos T/efeitos dos fármacos , Linfócitos T Reguladores/citologia , Timoma/complicações , Timo/citologia , Timo/efeitos dos fármacos
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