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1.
Neurol Sci ; 43(9): 5459-5469, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35672479

RESUMEN

BACKGROUND: Multiple sclerosis (MS) is characterized by phenotypical heterogeneity, partly resulting from demographic and environmental risk factors. Socio-economic factors and the characteristics of local MS facilities might also play a part. METHODS: This study included patients with a confirmed MS diagnosis enrolled in the Italian MS and Related Disorders Register in 2000-2021. Patients at first visit were classified as having a clinically isolated syndrome (CIS), relapsing-remitting (RR), primary progressive (PP), progressive-relapsing (PR), or secondary progressive MS (SP). Demographic and clinical characteristics were analyzed, with centers' characteristics, geographic macro-areas, and Deprivation Index. We computed the odds ratios (OR) for CIS, PP/PR, and SP phenotypes, compared to the RR, using multivariate, multinomial, mixed effects logistic regression models. RESULTS: In all 35,243 patients from 106 centers were included. The OR of presenting more advanced MS phenotypes than the RR phenotype at first visit significantly diminished in relation to calendar period. Females were at a significantly lower risk of a PP/PR or SP phenotype. Older age was associated with CIS, PP/PR, and SP. The risk of a longer interval between disease onset and first visit was lower for the CIS phenotype, but higher for PP/PR and SP. The probability of SP at first visit was greater in the South of Italy. DISCUSSION: Differences in the phenotype of MS patients first seen in Italian centers can be only partly explained by differences in the centers' characteristics. The demographic and socio-economic characteristics of MS patients seem to be the main determinants of the phenotypes at first referral.


Asunto(s)
Esclerosis Múltiple Crónica Progresiva , Esclerosis Múltiple Recurrente-Remitente , Esclerosis Múltiple , Femenino , Humanos , Esclerosis Múltiple/complicaciones , Esclerosis Múltiple Crónica Progresiva/complicaciones , Esclerosis Múltiple Crónica Progresiva/epidemiología , Esclerosis Múltiple Recurrente-Remitente/complicaciones , Esclerosis Múltiple Recurrente-Remitente/epidemiología , Fenotipo , Recurrencia , Derivación y Consulta
2.
Qual Life Res ; 25(11): 2755-2763, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27125955

RESUMEN

PURPOSE: Individualized quality of life (QoL) measures differ from traditional inventories in that QoL domains/weights are not predetermined, but identified by the individual. We assessed practicability of the Schedule for the Evaluation of Individual QoL-Direct Weighting (SEIQoL-DW) interview in severely affected multiple sclerosis (MS) patients; the key QoL dimensions identified; and the correlation of the SEIQoL-DW index score with standard patient-reported outcome measures (PROMs). METHODS: Participants were people with severe MS who performed the baseline visit of the PeNSAMI trial (ISRCTN73082124). The SEIQoL-DW was administered at the patient's home by a trained examiner. Patients then received the following PROMs: the Core-Palliative care Outcome Scale (Core-POS), the Palliative care Outcome Scale-Symptoms-MS (POS-S-MS), the European Quality of Life Five Dimensions-3L (EQ-5D-3L), and the Hospital Anxiety and Depression Scale (HADS). RESULTS: Of 59 enrolled patients, 11 (19 %) did not receive the SEIQoL-DW (and the other PROMs) because of severe cognitive compromise or inability to communicate. SEIQoL-DW administration was completed and deemed valid in all 48 cases (mean age 60 years, 58 % women, median Expanded Disability Status Scale score 8.5). Mean SEIQoL-DW index score was 59.1 (SD 25.5). The most commonly nominated SEIQoL-DW areas were family (94 % of the patients), relationships, and leisure activities (both 65 %). Core-POS and POS-S-MS contained 70 % of the SEIQoL-DW-nominated areas. Nevertheless, correlations between SEIQoL-DW index, Core-POS, and POS-S-MS (and the other PROMs) were negligible. CONCLUSIONS: Individualized QoL can be assessed in severely affected MS patients, providing information that is not tracked by the standard inventories Core-POS, POS-S-MS, EQ-5D-3L, and HADS.


Asunto(s)
Esclerosis Múltiple/psicología , Perfil de Impacto de Enfermedad , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Encuestas y Cuestionarios , Adulto Joven
3.
Acta Neurol Scand ; 132(4): 226-34, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25690402

RESUMEN

OBJECTIVE: Multiple sclerosis (MS) affects young adults of working age. Difficulties in work-related activities are usually ascribed to MS symptoms, while the impact of workplace features is underestimated. This article presents the Multiple Sclerosis Questionnaire for Job Difficulties (MSQ-Job), designed to assess working difficulties due to MS symptoms and workplace features. METHODS: A sample of employed MS patients completed the MSQ-Job, the WHO-Disability Assessment Schedule (WHODAS 2.0) and the 54-items MS Quality of Life Questionnaires (MSQOL-54); the expanded disability status scale (EDSS) was used to define MS severity. Factor structure was evaluated using principal component extraction and Oblimin rotation; internal consistency was assessed with Cronbach's alpha; construct and discriminant validity using t-test (EDSS 0-2 vs >2; patients self-reporting need for support vs patients reporting no needs; full-time vs part-time employees); and Pearson's correlation with WHODAS 2.0 and MSQOL-54. RESULTS: The MSQ-Job is a 42-item questionnaire with six scales and an overall factor. Scores range on a 0-100 scale (higher scores indicate more and more severe difficulties); patients with EDSS>2 and self-reporting support needs had worse scores than those with EDSS 0-2 and without needs. Correlations with WHODAS 2.0 and MSQOL-54 were generally significant (P < 0.0007) and below 0.70. CONCLUSIONS: The MSQ-Job jointly measures the impact of respondents' symptoms and workplace features on work activities and enables to assess the effects of clinical and occupational interventions and better describe the impact of MS indirect costs.


Asunto(s)
Esclerosis Múltiple/psicología , Autoinforme/normas , Trabajo , Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/economía , Calidad de Vida , Adulto Joven
4.
Mult Scler ; 20(9): 1234-43, 2014 08.
Artículo en Inglés | MEDLINE | ID: mdl-24421305

RESUMEN

BACKGROUND: The SIMS-Trial showed that the 'Sapere Migliora' information aid (IA) for newly diagnosed people with multiple sclerosis (PwMS) effectively improved patient knowledge and satisfaction with care. OBJECTIVES: The objectives of this paper are to assess the effectiveness of the IA in clinical practice and to compare the whole IA with the take-home booklet/website component alone. METHODS: After updating the IA and replacing the CD with a website, a prospective, open-label non-randomised controlled trial compared the whole IA (group A, five SIMS-Trial centres) to take-home (group B, 16 centres). One month after the intervention, participants completed the MS Knowledge Questionnaire (MSKQ), care satisfaction questionnaire (COSM-R) (primary study outcomes), Hospital and Anxiety Depression Scale, and ad hoc questionnaire appraising the IA. RESULTS: We enrolled 159 newly diagnosed PwMS (May 2012-March 2013). Drop-outs were four of 77 (5%, group A) and 11/82 (13%, group B). Primary endpoint (highest tertile both for MSKQ and COSM-R section 2 scores) was achieved by 38/77 (49%) group A and 33/82 (40%) group B (p = 0.25). Attainment of secondary outcomes was also similar between groups. CONCLUSIONS: This study shows that the entire IA is not superior to the booklet/website alone, and that both are comparable in efficacy to the intervention arm of the SIMS-Trial. TRIAL REGISTRATION NUMBER: ISRCTN78940214.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Esclerosis Múltiple/terapia , Educación del Paciente como Asunto/métodos , Adolescente , Adulto , Comprensión , Femenino , Alfabetización en Salud , Humanos , Internet , Entrevistas como Asunto , Italia , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/diagnóstico , Esclerosis Múltiple/fisiopatología , Esclerosis Múltiple/psicología , Folletos , Satisfacción del Paciente , Estudios Prospectivos , Encuestas y Cuestionarios , Resultado del Tratamiento , Adulto Joven
5.
Mult Scler ; 16(11): 1393-405, 2010 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-20858692

RESUMEN

BACKGROUND: Patients report information deficits in the period surrounding diagnosis of multiple sclerosis (MS). We assessed the effectiveness of an add-on information aid for newly diagnosed MS patients. METHODS: We randomly assigned 120 newly diagnosed MS patients from five Italian centres to diagnosis disclosure (current practice at the centre) or current practice plus information aid (ISRCTN81072971). The information aid consisted of a personal interview with a physician using a navigable compact disc and a take-home booklet. The primary composite endpoint was score in the highest tertile of MS knowledge and satisfaction with care questionnaires. Other endpoints were safety; treatment adherence; extra contacts/consultations; switching of care centre; and changes in Hospital Anxiety and Depression Scale and Control Preference Scale scores. RESULTS: At 1 month, 30/60 intervention and 8/60 control patients achieved the primary endpoint (odds ratio [OR] 6.5, 95% CI 2.6-16.0; p < 0.001; number needed to treat [NNT] 3). Figures at 6 months were 26/60 intervention and 11/60 control patients (OR 3.4, 95% CI 1.5-7.8; p = 0.04; NNT 4). There were no adverse events. No significant treatment effects were seen on secondary outcomes. CONCLUSION: The information aid was safe and significantly associated with attainment of the primary outcome at 1 and 6 months.


Asunto(s)
Conocimientos, Actitudes y Práctica en Salud , Esclerosis Múltiple/psicología , Educación del Paciente como Asunto/métodos , Satisfacción del Paciente , Adulto , Revelación , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
6.
Mult Scler ; 16(1): 100-11, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19995834

RESUMEN

There are few studies on patient knowledge in multiple sclerosis (MS), and only two published questionnaires. The objective of this article was to develop and validate the MS Knowledge Questionnaire (MSKQ), a self-assessed instrument for newly diagnosed MS patients. Thirty multiple-choice statements, conceived to test MS knowledge, were produced by a multidisciplinary panel and pre-tested on three MS patients, resulting in an intermediate 26-item version. This was tested on 54 MS patients for internal consistency, content and construct validity (validation sample I). The final (25-item) MSKQ was a primary outcome measure in the SIMS-Trial on an information aid to newly diagnosed MS patients. Postal responses of SIMS-Trial participants to the MSKQ a month after intervention (validation sample II) were analysed. Median MSKQ scores in validation samples I and II were, respectively, 18 (range 9-23) and 17 (range 3-24). Acceptability, internal consistency (Kuder-Richardson-20 formula 0.76) and content validity were good. Educational attainment and receiving the information aid were the main independent predictors of MS knowledge. Other predictors were female sex (positive association) and disease duration (negative association). In conclusion, the MSKQ has good clinimetric properties and is sensitive to an educational intervention. We propose the MSKQ as a brief instrument for clinical practice and research.


Asunto(s)
Esclerosis Múltiple , Educación del Paciente como Asunto , Encuestas y Cuestionarios , Adolescente , Adulto , Evaluación de la Discapacidad , Educación , Empleo , Femenino , Humanos , Consentimiento Informado , Italia , Modelos Logísticos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/tratamiento farmacológico , Esclerosis Múltiple/psicología , Escalas de Valoración Psiquiátrica , Reproducibilidad de los Resultados , Adulto Joven
8.
CNS Drugs ; 32(7): 653-660, 2018 07.
Artículo en Inglés | MEDLINE | ID: mdl-29949101

RESUMEN

BACKGROUND: Glatiramer acetate (GA) 20 mg/day (GA20) is associated with immediate post-injection reactions (PIRs). For convenience of use, approved GA 40 mg three times weekly (GA40) delivers a similar weekly dose. The dose and concentration of a single GA40 injection are, however, twice as high as for GA20, and post-injection adverse events may differ. Cases of atypical PIRs to GA40 prompted us to systematically monitor such events. OBJECTIVE: The aim was to characterize atypical PIRs in multiple sclerosis (MS) patients treated with GA40. METHODS: Clinical practice data were prospectively collected in consecutive relapsing-remitting MS patients. Descriptive statistics for categorical and continuous variables, Mann-Whitney and Chi-squared tests for baseline comparisons, and Cox regression models for association of variables to first atypical PIRs were applied. RESULTS: Forty-six out of 173 patients (26.6%) given GA40 experienced any PIRs. Of those, 38 (22.0%) had atypical, 14 (8.1%) had combined typical and atypical, and 26 (15.0%) had recurrent atypical PIRs, most frequently shivering (13.3%) and nausea/vomiting (8.1%). Compared to typical PIRs, onset of atypical PIRs was significantly delayed (median 30 vs 1 min, p < 0.0001), and their median duration longer (median 120 vs 6 min, p = 0.00013). Previous exposure to GA20 was associated with a lower risk of atypical PIRs [hazard ratio (HR) = 0.35, 95% confidence interval (CI) 0.17-0.72, p = 0.0039]. Patients experiencing PIRs with GA20 were at elevated risk for atypical PIRs with GA40 (HR = 5.75, 95% CI 1.66-19.94, p = 0.0059). CONCLUSIONS: Atypical PIRs with GA40, especially gastrointestinal symptoms and/or fever/shivering, had a delayed onset and occurred in a significant proportion of our patients. Their real prevalence should be assessed in appropriately designed studies accounting for  nocebo responses. Initial dose titration might reduce PIR frequency.


Asunto(s)
Acetato de Glatiramer/efectos de los fármacos , Inmunosupresores/uso terapéutico , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Adulto , Relación Dosis-Respuesta a Droga , Sistemas de Liberación de Medicamentos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Estadísticas no Paramétricas , Resultado del Tratamiento
9.
J Clin Invest ; 96(2): 1137-44, 1995 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-7635950

RESUMEN

Duchenne muscular dystrophy is a fatal disorder characterized by progressive muscular weakness, wasting, and severe muscle contractures in later disease stages. Muscle biopsy reveals conspicuous myofiber degeneration and fibrosis substituting muscle tissue. We quantitatively determined mRNA of the potent fibrogenic cytokine transforming growth factor-beta 1 by quantitative PCR in 15 Duchenne muscular dystrophy, 13 Becker muscular dystrophy, 11 spinal muscular atrophy patients, and 16 controls. Higher transforming growth factor-beta 1 expression was greater in Duchenne muscular dystrophy patients than controls (P = 0.012) and Becker patients (P = 0.03). Fibrosis was significantly more prominent in Duchenne muscular dystrophy than Becker muscular dystrophy, spinal muscular atrophy, and controls. The proportion of connective tissue in muscle biopsies increased progressively with age in Duchenne muscular dystrophy patients, while transforming growth factor-beta 1 levels peaked at 2 and 6 yr of age. Transforming growth factor-beta 1 protein was also detected by immunocytochemistry and immunoblotting. Our findings suggest that transforming growth factor-beta 1 stimulates fibrosis in Duchenne muscular dystrophy. Expression of transforming growth factor-beta 1 in the early stages of Duchenne muscular dystrophy may be critical in initiating muscle fibrosis and antifibrosis treatment could slow progression of the disease, increasing the utility of gene therapy.


Asunto(s)
Citocinas/fisiología , Músculos/metabolismo , Distrofias Musculares/metabolismo , Atrofias Musculares Espinales de la Infancia/metabolismo , Factor de Crecimiento Transformador beta/biosíntesis , Factores de Edad , Secuencia de Bases , Niño , Preescolar , Tejido Conectivo/patología , Fibrosis , Expresión Génica , Humanos , Datos de Secuencia Molecular , Músculos/patología , Distrofias Musculares/clasificación , Distrofias Musculares/patología , Reacción en Cadena de la Polimerasa , ARN Mensajero/análisis , Atrofias Musculares Espinales de la Infancia/patología , Factor de Crecimiento Transformador beta/genética , Factor de Crecimiento Transformador beta/fisiología
10.
J Neurol Sci ; 368: 402-7, 2016 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-27538672

RESUMEN

BACKGROUND: 4-aminopyridine (4-AP) is a potassium-channel blocker able to enhance walking speed in MS improving the action potentials of demyelinated axons on which internodal potassium channels are exposed. OBJECTIVE: to study early 4-AP effect with clinical, subjective, neurophysiological and neuroradiological tools. METHODS: Clinical (Timed 25-Foot Walk - T25FW, Timed Up-And-Go - TUG), subjective (MS Walking Scale-12 - MSWS-12), neurophysiological (Motor Evoked Potentials - MEPs) and imaging (Diffusion Tensor Imaging - DTI) evaluations were performed before (T0) and after (T1) 14days of 4-AP treatment. MEPs were recorded from Abductor Hallucis of both legs. A Tract-Based-Spatial-Statistics (TBSS) was performed on DTI. RESULTS: We found a significant difference between T0 and T1 for T25FW, TUG, MSWS-12 (p≤0.001) in the whole patients' sample (23 subjects, median EDSS 6.0) and decrease of Central Motor Conduction Time and increase of mean Amplitude (Amp) at T1 (p=0.008 and p=0.006). We also recorded a significant difference of T25FW, TUG, MSWS-12 and Amp in clinical responder (CR) patients (CR: amelioration >20% at T25FW). TBSS showed a significant Mean and Radial Diffusivity reduction in the corticospinal tracts (p<0.05) of the whole group of patients; this reduction was also found in the CR subgroup. CONCLUSION: Neurophysiological and neuroradiological parameters were modified in MS patients treated with 4-AP, and most of them reported a subjective improvement of their motor performances after treatment. The use of clinical, subjective, neurophysiological and neuroradiological tools could help to better explore MS patients responsiveness to 4-AP.


Asunto(s)
4-Aminopiridina/uso terapéutico , Esclerosis Múltiple/tratamiento farmacológico , Evaluación de Resultado en la Atención de Salud/métodos , Bloqueadores de los Canales de Potasio/uso terapéutico , Adulto , Imagen de Difusión Tensora , Potenciales Evocados Motores/efectos de los fármacos , Prueba de Esfuerzo , Femenino , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/diagnóstico por imagen , Esclerosis Múltiple/fisiopatología , Índice de Severidad de la Enfermedad , Estadística como Asunto , Estadísticas no Paramétricas , Estimulación Magnética Transcraneal , Caminata/fisiología
11.
Hum Mutat ; 14(5): 447, 1999 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-10533075

RESUMEN

Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contraction (myotonia), which is more pronounced after inactivity and improves with exercise. We report three novel and one known mutations of the CLCN1 gene in four unrelated MC families. In two families the mutations were missense: 803C>T (T268M) and 1272C>G (I424M) in exons 7 and 12, respectively. The third was a splice mutation in intron 5 (696+2T>A), which induced a frame shift with a stop codon in exon 6 (fs213X). In the fourth family the previously-reported missense mutation 689G>A (G230E) was found. We also report two known polymorphisms: 261C>T (T87T) and 2154T>C (D718D) in exons 2 and 17 of two MC families; also found in 14 (33%) and 28 (67%) of 42 healthy controls, respectively. These findings expand our knowledge of mutations responsible for myotonia congenita, reducing the proportion of MC patients in whom genetic alterations have not been found.


Asunto(s)
Canales de Cloruro/genética , Miotonía Congénita/genética , Femenino , Mutación del Sistema de Lectura , Humanos , Masculino , Mutación Missense , Linaje , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Polimorfismo Conformacional Retorcido-Simple
12.
J Neuropathol Exp Neurol ; 56(5): 479-84, 1997 May.
Artículo en Inglés | MEDLINE | ID: mdl-9143260

RESUMEN

The idiopathic inflammatory myopathies are diseases of unknown etiology characterized by T cell-mediated myocytotoxicity in polymyositis and complement-mediated angiopathy of muscle fibers in dermatomyositis. A variable degree of fibrosis is present in muscles in these conditions both perimysially and endomysially. We evaluated the expression of TGF-beta 1, a pleiotropic cytokine with fibrogenic and immunomodulating activity, by means of quantitative-polymerase chain reaction and immunocytochemistry in DM and PM muscle biopsies. TGF-beta 1 mRNA was significantly higher in DM compared with controls, whereas in PM the values were not significantly different when compared with controls and DM. TGF-beta 1 was localized in connective tissue but did not correspond with mononuclear cell infiltrates. These findings suggest a correlation between TGF-beta 1 and connective tissue proliferation in inflammatory myopathy, while its immunomodulatory role remains to be elucidated.


Asunto(s)
Dermatomiositis/metabolismo , Dermatomiositis/patología , Polimiositis/metabolismo , Polimiositis/patología , Factor de Crecimiento Transformador beta/metabolismo , Adolescente , Adulto , Anciano , Niño , Tejido Conectivo/metabolismo , Tejido Conectivo/patología , Fibrosis , Humanos , Inmunohistoquímica , Persona de Mediana Edad , Monocitos/patología , Músculos/metabolismo , Músculos/patología , Reacción en Cadena de la Polimerasa , ARN Mensajero/metabolismo , Factor de Crecimiento Transformador beta/genética
13.
J Neuropathol Exp Neurol ; 59(2): 164-9, 2000 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-10749105

RESUMEN

Idiopathic inflammatory myopathies (IIM) are muscle diseases of autoimmune pathogenesis characterized by mononuclear cell infiltration within muscle tissue. Since immune cell homing and accumulation at the site of antigenic challenge is usually mediated by chemokines, we evaluated the expression of 2 beta-chemokines--monocyte chemoattractant protein-1 (MCP-1) and macrophage inflammatory protein-1alpha (MIP-1alpha)--by immunohistochemistry and polymerase chain reaction in muscles of polymyositis, inclusion body myositis, and dermatomyositis patients, and related their expression to immunopathological alterations in muscle. MCP-1 and MIP-1alpha transcripts were detected by PCR in all IIM muscles, but not in controls. By immunohistochemistry, the chemokines were found in all IIM muscle sections located in infiltrating inflammatory cells and also in neighboring extracellular matrix. The extent to which extracellular matrix was filled by each chemokine differed in each disease. In view of the known ability of chemokines to bind extracellular matrix and their possible synthesis by extracellular matrix components, we suggest that chemokine storage in the extracellular matrix can act as a microenvironmental factor amplifying lymphocyte activation and migration, thereby maintaining the autoimmune attack against unknown muscle antigens.


Asunto(s)
Quimiocinas CC/análisis , Músculo Esquelético/química , Miositis/metabolismo , Quimiocina CCL2/análisis , Quimiocina CCL2/genética , Quimiocina CCL3 , Quimiocina CCL4 , Quimiocinas CC/genética , Dermatomiositis/genética , Dermatomiositis/metabolismo , Regulación de la Expresión Génica , Humanos , Inmunohistoquímica , Proteínas Inflamatorias de Macrófagos/análisis , Proteínas Inflamatorias de Macrófagos/genética , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Miositis/genética , Miositis por Cuerpos de Inclusión/genética , Miositis por Cuerpos de Inclusión/metabolismo , Polimiositis/genética , Polimiositis/metabolismo , ARN/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
14.
Neurology ; 51(1): 302-5, 1998 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-9674829

RESUMEN

We report that long-term selective immunoglobulin G immunoadsorption by protein A (PAI) improved seizure frequency and neuropsychological deficits in a 16-year-old patient with severe treatment-resistant Rasmussen's encephalitis (RE). Clinical improvement correlated with reduction of antiglutamate receptor 3 antibodies. The efficacy of PAI in our patient supports the autoimmune hypothesis of RE and suggests its application to avoid, or at least delay, functional hemispherectomy in selected cases.


Asunto(s)
Autoanticuerpos/aislamiento & purificación , Encefalitis/terapia , Epilepsia Parcial Continua/terapia , Inmunoglobulina G/aislamiento & purificación , Adolescente , Encefalitis/inmunología , Epilepsia Parcial Continua/inmunología , Femenino , Humanos , Inmunoadsorbentes , Lenguaje , Pruebas Neuropsicológicas , Receptores de Glutamato Metabotrópico/inmunología , Proteína Estafilocócica A/inmunología
15.
Neuromuscul Disord ; 9(2): 66-71, 1999 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-10220860

RESUMEN

We describe a patient who suffered from impaired ocular motility from age 10 years and at 16 years developed ptosis, proximal weakness and progressive fatigability. At 35 years she developed massive myoclonic jerks, and head and distal tremor. A muscle biopsy showed a high percentage of cytochrome c oxidase negative fibers but no ragged-red fibers. A novel heteroplasmic mutation (8342G-->A) was found in the mitochondrial transfer RNA(Lys) gene by single-strand conformation polymorphism screening, followed by sequence and restriction fragment length polymorphism analysis. Approximately 80% of muscle mitochondrial DNA (mtDNA) harbored the mutation, while the mutation was absent in lymphocyte DNA of the proband, as well as of her mother, daughter and a maternal aunt. However, the pathogenicity of the mutation was confirmed by restriction fragment length polymorphism analysis of single muscle fibers, which revealed a significantly greater level of mutant mtDNA in cytochrome c oxidase negative over cytochrome c oxidase positive fibers.


Asunto(s)
Epilepsias Mioclónicas/genética , Oftalmoplejía Externa Progresiva Crónica/genética , Mutación Puntual , ARN de Transferencia de Lisina/genética , ARN/genética , Adenina/química , Adulto , Autoanálisis , Secuencia de Bases , Epilepsias Mioclónicas/metabolismo , Epilepsias Mioclónicas/patología , Femenino , Guanina/química , Humanos , Datos de Secuencia Molecular , Conformación de Ácido Nucleico , Oftalmoplejía Externa Progresiva Crónica/metabolismo , Oftalmoplejía Externa Progresiva Crónica/patología , Linaje , ARN Mitocondrial
16.
Neuromuscul Disord ; 9(1): 28-33, 1999 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10063832

RESUMEN

We evaluated transforming growth factor-beta1 (TGF-beta1) expression in the muscle of four laminin alpha2-negative, four laminin alpha2-positive and seven partial laminin alpha2-deficient congenital muscular dystrophy (CMD) patients, and compared it to Duchenne muscular dystrophy (DMD) patients and controls. TGF-beta1 mRNA levels in skeletal muscle from laminin alpha2-negative and laminin alpha2-positive CMD patients were significantly greater than in controls (P < 0.05 and P < 0.005, respectively), while in partial laminin alpha2-deficient muscular dystrophy patients the amount was not significantly higher than in controls (P > 0.1). The TGF-beta1 values were lower than those found in DMD, although the extent of fibrosis was greater in CMD than in DMD and controls. Our findings suggest that TGF-beta1 is involved in CMD muscle fibrosis, but differently from what we observed in DMD muscles as it seems not to be the major player in connective tissue proliferation.


Asunto(s)
Distrofias Musculares/metabolismo , Distrofias Musculares/patología , Factor de Crecimiento Transformador beta/metabolismo , Adulto , Niño , Preescolar , Tejido Conectivo/metabolismo , Tejido Conectivo/patología , Femenino , Fibrosis , Humanos , Inmunohistoquímica , Lactante , Laminina/biosíntesis , Laminina/deficiencia , Masculino , Distrofias Musculares/genética , ARN Mensajero/biosíntesis , Factor de Crecimiento Transformador beta/genética
17.
J Neuroimmunol ; 48(1): 33-6, 1993 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-8227305

RESUMEN

Soluble interleukin-2 receptor (sIL-2R), interferon-gamma (IFN-gamma) and tumor necrosis factor-alpha (TNF-alpha) levels were evaluated in serum from patients affected by myasthenia gravis (MG). sIL-2R titers were significantly increased in generalized and bulbar MG patients while ocular cases were not different from controls. Patients showing a recent clinical worsening had significantly higher sIL-2R titers when compared to the whole MG population. sIL-2R levels did not correlate with the corresponding anti-acetylcholine receptor antibody titer (Anti-AChR Ab). IFN-gamma was not detected in serum of both MG patients and healthy subjects while TNF-alpha levels were not statistically different from controls. The finding of increased sIL-2R levels supports the hypothesis of circulating activated autoreactive T cells in myasthenic patients.


Asunto(s)
Interferón gamma/sangre , Miastenia Gravis/inmunología , Receptores de Interleucina-2/análisis , Factor de Necrosis Tumoral alfa/análisis , Adulto , Autoanticuerpos/sangre , Humanos , Persona de Mediana Edad , Miastenia Gravis/sangre , Receptores Colinérgicos/inmunología
18.
J Neuroimmunol ; 85(1): 52-8, 1998 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-9626997

RESUMEN

Specific activation of naive T cells requires TCR engagement plus interaction of CD28 on T cells with co-stimulatory B7-1/B7-2 on APCs. Since muscle cells may be directly involved in activating muscle-infiltrating T lymphocytes in polymyositis and inclusion body myositis, we analyzed B7 expression on myoblasts before and after treatment with pro-inflammatory cytokines. We found no expression of B7-1/B7-2, either constitutively or after stimulus with cytokines. Furthermore, myoblasts failed to stimulate alloreactive peripheral blood lymphocytes in mixed lymphocyte reactions. Lack of B7 expression was confirmed by immunostaining of polymyositis patients' muscle: only T and the few B lymphocytes present in inflammation areas expressed B7-1.


Asunto(s)
Citocinas/farmacología , Mediadores de Inflamación/farmacología , Músculos/metabolismo , Polimiositis/etiología , Antígenos CD/metabolismo , Antígeno B7-1/metabolismo , Antígeno B7-2 , Humanos , Inmunohistoquímica , Prueba de Cultivo Mixto de Linfocitos , Glicoproteínas de Membrana/metabolismo , Músculos/inmunología , Músculos/patología , Reacción en Cadena de la Polimerasa , Linfocitos T/inmunología , Transcripción Genética
19.
J Neurol ; 244(5): 277-87, 1997 May.
Artículo en Inglés | MEDLINE | ID: mdl-9178151

RESUMEN

The inflammatory myopathies are a heterogeneous group of muscle diseases characterized by muscle degeneration mediated by inflammatory processes. They may be idiopathic, as in polymyositis, dermatomyositis and inclusion body myositis, or associated with systemic disorders such as malignancies, overlap syndromes, and retroviral infection. The pathogenesis of each disease is discussed together with more recent molecular and cellular immunology findings. Salient diagnostic, clinical and pharmacological features are also reviewed.


Asunto(s)
Miositis/inmunología , Miositis/patología , Dermatomiositis/inmunología , Dermatomiositis/patología , Diagnóstico Diferencial , Humanos , Miositis por Cuerpos de Inclusión/inmunología , Miositis por Cuerpos de Inclusión/patología , Polimiositis/inmunología , Polimiositis/patología
20.
J Neurol ; 241(4): 218-22, 1994 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-8195820

RESUMEN

Surface antigens on peripheral blood lymphocytes from myasthenia gravis patients were investigated. The expression of DR+ and CD8+/DR+ T lymphocytes was increased and the expression of CD4+ T cells reduced. Neither thymectomy, clinical condition nor anti-acetylcholine receptor antibody titre correlated with any of the changes in peripheral blood lymphocyte subsets observed. However, immunosuppressive therapy correlated with the significant reduction in CD4+ and CD2+/CD4+ T cells in these patients.


Asunto(s)
Enfermedades Autoinmunes/inmunología , Miastenia Gravis/inmunología , Subgrupos de Linfocitos T/inmunología , Adolescente , Anciano , Antígenos CD/análisis , Antígenos de Superficie/análisis , Niño , Femenino , Citometría de Flujo , Antígenos HLA-DR/análisis , Humanos , Terapia de Inmunosupresión , Masculino , Persona de Mediana Edad , Miastenia Gravis/cirugía , Timectomía
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