RESUMEN
In order to predict the clinical benefit of interferon-beta (IFN-beta) to patients with multiple sclerosis (MS), the following markers were investigated; (1) chronological change of cytokines (IFN-gamma, TNF-alpha, IL-6, IL-10, and TGF-beta) after administration of IFN-beta, (2) untoward effects of IFN-beta such as headache and arthralgia, (3) backgrounds of the patients such as age and relapse rate, (4) efficacy of IFN-beta therapy assessed by the change of relapse rate and progression of disability. Chronological blood sampling was performed 0, 10, and 24 h after injection of IFN-beta. The increase of serum IL-6 level in response to IFN-beta administration was associated with headache, arthralgia, relapse rate before treatment, and disability score at the initiation of the therapy. Significant association of change of serum TNF-alpha with age and headache was also observed. The important finding in this study was that patients with a transient increase in IL-6 in response to IFN-beta showed a slow disease progression. This result suggests that this transient increase in the serum IL-6 predicts favorable response to IFN-beta treatment.
Asunto(s)
Interferón beta/uso terapéutico , Interleucina-6/sangre , Esclerosis Múltiple/sangre , Esclerosis Múltiple/tratamiento farmacológico , Adulto , Envejecimiento/sangre , Personas con Discapacidad , Progresión de la Enfermedad , Femenino , Humanos , Inyecciones , Interferón beta/administración & dosificación , Masculino , Esclerosis Múltiple/patología , Factor de Necrosis Tumoral alfa/sangreAsunto(s)
Mutagénesis Insercional/genética , Mutación Puntual/genética , Enfermedades por Prión/genética , Priones/genética , Atrofia/patología , Ataxia Cerebelosa/etiología , Corteza Cerebral/patología , Trastornos del Conocimiento/etiología , Análisis Mutacional de ADN , Femenino , Humanos , Persona de Mediana Edad , Polimorfismo Genético/genética , Enfermedades por Prión/complicacionesRESUMEN
The present study examined the effects of acute high-intensity exercise on Ca(2+) uptake and release rates and Ca(2+)-adenosine triphosphatase (ATPase) activity of the sarcoplasmic reticulum (SR) from the costal diaphragm. The rats were run on a treadmill at an estimated requirement of 100% of maximal O2 consumption until fatigued (average time to exhaustion: 4.79 min). Muscle lactate and inorganic phosphate after exercise were increased by 65% (P < 0.05) and 35% (P < 0.05), respectively. With exercise, Ca(2+) uptake and release, which were detected in homogenates using the Ca(2+) fluorescent dye indo-1, were decreased by 24% (P < 0.05) and 22% (P < 0.05), respectively. The reduction in Ca(2+) uptake was paralleled by decreased activity of SR Ca(2+)-ATPase in both the absence and presence of Ca(2+) ionophore. These findings demonstrate that, in the diaphragm as well as in the locomotor muscles that have been explored in previous studies, the attenuations of the SR function is brought about by acute high-intensity exercise. These changes in the SR of the diaphragm may contribute, at least in part, to deteriorations in exercise tolerance and work productivity resulting from repetitive physical activities.
Asunto(s)
Diafragma/fisiología , Condicionamiento Físico Animal/fisiología , Retículo Sarcoplasmático/fisiología , Animales , Calcio/metabolismo , ATPasas Transportadoras de Calcio/metabolismo , Glucógeno/análisis , Lactatos/análisis , Masculino , Fatiga Muscular/fisiología , Fosfatos/análisis , Ratas , Ratas WistarRESUMEN
We report on a 41-year-old male patient with spinal muscular atrophy (SMA). He had slowly progressive muscular weakness and hypertrophic calves since 14 years of age. The upper arms were slightly, and the thighs moderately atrophic, but the calves were remarkably hypertrophic. There was muscle weakness of both the upper and lower limbs, being more proximal in distribution. He had a positive Gowers' sign and his gait was slightly waddling. Serum creatine kinase level was elevated (518IU/l). Electromyogram revealed a neurogenic pattern. Muscle biopsy of the left biceps brachii showed chronic neurogenic changes. Immunohistochemical examination and Western blot analysis using anti-dystrophin antibodies showed no abnormality. DNA analysis with multiplex PCR proved no deletion in the dystrophin gene, while deletions of exons 7 and 8 of the telomeric copy of survival motor neuron gene were detected. In 1978, Pearn et al. described a new variant syndrome of SMA, characterized by adolescent onset, gross hypertrophy of calves, and a slowly progressive clinical course. The present case is compatible with this syndrome. Therefore, it is suggested that this syndrome, mimicking Becker muscular dystrophy, is not an independent clinical entity, although the phenotype of this syndrome is different from that of typical SMA.
Asunto(s)
Pierna , Músculo Esquelético/patología , Atrofia Muscular Espinal/genética , Proteínas del Tejido Nervioso/genética , Adolescente , Adulto , Proteína de Unión a Elemento de Respuesta al AMP Cíclico , Eliminación de Gen , Humanos , Hipertrofia , Masculino , Atrofia Muscular Espinal/patología , Proteínas de Unión al ARN , Proteínas del Complejo SMNRESUMEN
We present here a 28-year-old male patient with Becker muscular dystrophy whose skeletal muscle showed an absence of dystrophin. He has had progressive and predominantly proximal muscular wasting since 5 years of age, but was able to walk until 26 years of age. He showed hypertrophic calves, cardiomyopathy, and an elevated serum creatine kinase level (934 U/1). A skeletal muscle biopsy revealed advanced chronic myopathic changes. Immunohistochemical examination using anti-dystrophin antibodies against C-terminus showed deficiency of the protein. Rod domain and N-terminus were also absent in almost all muscle fibers, but only in a small part of the sample, they were faintly stained. beta-Dystroglycan and utrophin were present only in a small number of muscle fibers. DNA and RT-PCR analysis showed a frame-shift deletion of exons 3-7 in the dystrophin gene. In such an exceptional case as this one, it is important to investigate the factors which determine the severity of dystrophinopathy.
Asunto(s)
Distrofina/química , Distrofina/genética , Distrofias Musculares/genética , Distrofias Musculares/metabolismo , Adulto , Western Blotting , ADN/análisis , ADN/genética , Humanos , Inmunohistoquímica , Masculino , Debilidad Muscular/etiología , Debilidad Muscular/genética , Debilidad Muscular/patología , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Distrofias Musculares/patología , Miocardio/patología , Fenotipo , Reacción en Cadena de la Polimerasa de Transcriptasa InversaAsunto(s)
Neoplasias de los Nervios Craneales/complicaciones , Enfermedades del Nervio Facial/etiología , Imagen por Resonancia Magnética , Neurilemoma/complicaciones , Trastornos de la Sensación/etiología , Nervio Trigémino , Enfermedades del Nervio Facial/diagnóstico , Femenino , Gadolinio DTPA , Humanos , Persona de Mediana Edad , Nervio Trigémino/patologíaRESUMEN
We describe a family with facioscapulohumeral muscular dystrophy (FSHD) and hereditary long QT syndrome (LQT) for three generations. The proband, a 50-year-old woman, had noticed difficulty in raising the upper extremities since the age of 40. At the age of 48, she was admitted to our hospital because of arrhythmia attack. She, her mother, and one of her three children were diagnosed as having LQT. These three individuals and the proband's two siblings were clinically diagnosed as having FSHD which was confirmed by genetic analysis using EcoR1. FSHD is an autosomal dominant disorder and the gene locus is mapped to chromosome 4q35-ter, but the gene has not been isolated. LQT is a group of disorders which cause syncope and sudden death from ventricular arrhythmia in an autosomal dominant fashion. Four loci for this syndrome (LQT1-4) have been known, and three of the genes have been shown to encode ion-channels. Genetic analysis of the proband failed to detect any of previously known mutations in the LQT1, LQT2, and LQT3 genes. The locus for LQT4 has been mapped to chromosome 4q25-7. There have so far been no report of FSHD associated with LQT. Although the pathogenesis is unclear, we speculate that these two diseases are linked each other on chromosome 4q.
Asunto(s)
Síndrome de QT Prolongado/genética , Distrofias Musculares/genética , Cromosomas Humanos Par 4 , Músculos Faciales , Femenino , Humanos , Húmero , Síndrome de QT Prolongado/complicaciones , Persona de Mediana Edad , Distrofias Musculares/complicaciones , EscápulaAsunto(s)
Músculos Faciales , Imagen por Resonancia Magnética , Espasmo/diagnóstico , Adulto , Femenino , Humanos , Espasmo/cirugíaRESUMEN
To investigate the etiological factors responsible for intellectual impairment and mood changes in patients with myotonic dystrophy (DM), we evaluated 14 patients with DM by means of neuropsychological evaluation and magnetic resonance images (MRI). There were significant differences between patients and controls in regard to the Barthel index, Zung's depression scale, attention, verbal fluency and digit span. All patients had ventricular enlargement and white matter abnormalities on MRI. However, the severity was variable and there was no difference in neuropsychological testing between patients with mild ventricular dilatation and those with severe dilatation. On the other hand, significant differences were present between patients with mild white matter lesions and those with severe white matter abnormalities in regard to verbal fluency and attention. Neuropathologic examination of an autopsied brain showed an increase in the interfascicular space of the white matter which produced pallor on myelin staining. The present findings suggested that the white matter abnormalities were the cause of cognitive impairment among patients with DM.
Asunto(s)
Sistema Nervioso Central/fisiopatología , Miotonía/fisiopatología , Actividades Cotidianas , Adolescente , Adulto , Afecto/fisiología , Encéfalo/patología , Sistema Nervioso Central/patología , Ventrículos Cerebrales/patología , Trastornos del Conocimiento/fisiopatología , Trastornos del Conocimiento/psicología , Depresión/psicología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Miotonía/patología , Miotonía/psicología , Pruebas Neuropsicológicas , Tomografía Computarizada por Rayos XRESUMEN
To elucidate the mechanisms of adaptation to a low-energy and low-protein vegan diet, we carried out dietary surveys and nitrogen balance studies five times during one year on two women and a man who ate raw brown rice, raw green vegetables, three kinds of raw roots, fruit and salt daily. Individual subjects modified this vegan diet slightly. The mean daily energy intake of the subjects was 18, 14, and 32 kcal/kg, of body weight. The loss of body weight was about 10% of the initial level. The daily nitrogen balance was -32, -33, and -11 mg N/kg of body weight. In spite of the negative nitrogen balance, the results of routine clinical tests, initially normal, did not change with the vegan diet. Ten months after the start of the vegan diet, the subjects were given 15N urea orally. The incorporation of 15N into serum proteins suggested that these subjects could utilize urea nitrogen for body protein synthesis. The level of 15N in serum proteins was close to the level in other normal adult men on a low-protein diet with adequate energy for 2 weeks.
Asunto(s)
Dieta Vegetariana , Proteínas/metabolismo , Anciano , Proteínas en la Dieta/administración & dosificación , Ingestión de Energía , Femenino , Humanos , Masculino , Persona de Mediana EdadRESUMEN
The effects of a 15-wk aerobic conditioning (4.2 +/- 1.3 d/wk) plus energy restriction (25 kcal/kg/d diet) program on anthropometric and physiologic attributes were studied in 16 obese women between the ages of 18 and 24. The women were divided into either an experimental (E, n = 10) group or a control (C, n = 6) group. The exercise + diet (E) group demonstrated significant reductions in body weight, both absolute and relative body fat, Katsura index, and serum triglycerides, and increases in oxygen uptake relative to lactate threshold (LT), maximal oxygen uptake, and the ratio of high-density lipoprotein cholesterol to total cholesterol. In the C group, none of the variables measured in this study remained unchanged. Thus the benefits of weight reduction without any change in fat free weight following the program were pronounced in the female university-age group that we studied. In conclusion, the highly structured aerobic conditioning at intensities corresponding to LT together with a proper dietary regimen is considered optimal with respect to favorable changes in various anthropometric and physiologic attributes. The feasibility of treating obese individuals with manifestation of medical and/or psychological problems in a school setting should be a significant matter in future research.
Asunto(s)
Dieta Reductora , Terapia por Ejercicio , Ejercicio Físico , Lactatos/sangre , Obesidad/terapia , Adolescente , Adulto , Umbral Anaerobio , Femenino , HumanosRESUMEN
To investigate the correlation between involvement of the CNS in motor neuron disease (MND) and neuroimaging abnormalities, we studied 18 patients with MND by single-photon emission computed tomography (SPECT) and MRI. Patients were divided into four groups according to the results of SPECT. Group 1 consisted of four patients with reduced isotope uptake in the frontal lobe, including the motor area, and in the anterior part of the temporal lobe; group 2 consisted of two patients with reduced isotope uptake in the motor area spreading to the adjacent frontal lobe; group 3 consisted of eight patients with reduced isotope uptake confined to the motor area; and group 4 consisted of four patients without reduced isotope uptake. We found dementia in group 1, borderline dementia in group 2, and no cognitive deficit in group 3 or four. MRI demonstrated enhanced T2-weighted signals along the pyramidal tract in eight patients, but this finding also existed in some control subjects. SPECT appears useful in identifying the location of cortical neuronal degeneration in patients with MND.
Asunto(s)
Enfermedad de la Neurona Motora/diagnóstico por imagen , Tomografía Computarizada de Emisión de Fotón Único , Anciano , Fasciculación , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Enfermedad de la Neurona Motora/diagnóstico , Enfermedad de la Neurona Motora/fisiopatología , Músculos/diagnóstico por imagen , Músculos/fisiopatologíaRESUMEN
We examined a left-handed 25-year-old man engaged for 2 years at a vinyl chloride resin factory where he had been exposed to lead stearate, a stabilizer of resin. Neurological examination revealed atrophy of small hand muscles, especially in the left dorsal interossei. Sensation of all modalities was intact. A nerve conduction study showed conduction block at the elbow, indicating possible cubital tunnel syndrome. Following CaEDTA therapy, continued recovery of conduction velocities, amplitude of compound muscle action potential, and diminution of conduction block at elbow were observed within a few months. In lead intoxication, nerves may incur mechanical damage. Subclinical entrapment may thus be an important factor leading to vulnerability of nerves in lead neuropathy.
Asunto(s)
Contaminantes Ocupacionales del Aire/envenenamiento , Intoxicación por Plomo , Intoxicación por Plomo/complicaciones , Síndromes de Compresión Nerviosa/etiología , Sistema Nervioso/fisiopatología , Enfermedades Profesionales/complicaciones , Exposición Profesional , Potenciales de Acción/efectos de los fármacos , Potenciales de Acción/fisiología , Adulto , Ácido Edético/uso terapéutico , Humanos , Intoxicación por Plomo/tratamiento farmacológico , Intoxicación por Plomo/fisiopatología , Masculino , Músculos/inervación , Músculos/patología , Músculos/fisiopatología , Atrofia Muscular/tratamiento farmacológico , Atrofia Muscular/fisiopatología , Síndromes de Compresión Nerviosa/diagnóstico , Síndromes de Compresión Nerviosa/patología , Sistema Nervioso/efectos de los fármacos , Sistema Nervioso/patología , Conducción Nerviosa/efectos de los fármacos , Conducción Nerviosa/fisiología , Enfermedades Profesionales/tratamiento farmacológico , Enfermedades Profesionales/fisiopatología , Cloruro de ViniloRESUMEN
The patient was a left handed 25-year-old man who had worked in a vinyl chloride resin factory since July 1987 using lead stearate as a stabilizer. During the two years preceding hospitalization, he had been admitted three times for colicky abdominal pain with constipation and nausea. Anemia and proteinuria without causative diseases were pointed out. Because of progressive muscle weakness of hands which began since January 1989, he was admitted to our neurologic clinic on October 2 1989. Neurological examination showed severe atrophy of both small hand muscles without sensory disturbances. Left hand was predominantly affected, especially in interossei muscles. Laboratory findings are as follows; RBC 3.25 million/cu.mm: Hb 9.7 g/dl:blood lead concentration 100 micrograms/dl: urinary coproporphyrin 4503 micrograms/l: urinary delta-ALA 138 mg/l: and urinary lead excretion after 1 g CaEDTA infusion: 3938 micrograms/day. Electromyography of extensor carpi radialis, flexor carpi ulnaris and opponens showed increased polyphasic, long duration MUPs. Electromyography of dorsal interossei showed fibrillation. Nerve conduction study showed mildly decreased motor and sensory conduction velocities and markedly reduced amplitude of compound muscle action potentials (CAMPs). Investigation by inching method revealed conduction block of left ulnar nerve across elbow. After CaEDTA chelating therapy, 1 g once a week, steady improvement of muscular weakness was observed within a few months. Serial nerve condition studies revealed constant recovery of nerve conduction velocities, amplitude of CMAPs and diminution of conduction block across the left elbow. Conduction block across left elbow without sensory disturbances implies that subclinical cubital tunnel syndrome might have existed in this patients.(ABSTRACT TRUNCATED AT 250 WORDS)
Asunto(s)
Intoxicación por Plomo/complicaciones , Síndromes de Compresión Nerviosa/inducido químicamente , Enfermedades Profesionales/inducido químicamente , Nervios Periféricos , Adulto , Quelantes/uso terapéutico , Ácido Edético/uso terapéutico , Humanos , Masculino , Síndromes de Compresión Nerviosa/tratamiento farmacológicoRESUMEN
Effects of skin resistance on impedance values were studied in order to propose reliable determination of body composition in human. Analysis of the data indicated that impedance values (Z = (R2 + Xc2)0.5) varied considerably in the following conditions: 1) 230 +/- 97.8 ohms when electrodes were directly attached; 2) 490 +/- 52.5 ohms when electrodes were attached immediately after use of alcohol; 3) 584 +/- 44.1 ohms when electrodes were attached immediately after use of alcohol with electrode gel; and 4) 589 +/- 45.0 ohms when electrodes were attached in the order of elimination of skin resistance----use of alcohol----use of electrode gel. We suggest that impedance obtained by the bioelectrical impedance analysis should be measured immediately after elimination of skin resistance at least with electrode gel.
Asunto(s)
Composición Corporal , Fenómenos Fisiológicos de la Piel , Adolescente , Conductividad Eléctrica , Femenino , HumanosRESUMEN
Anti-thymus microsome antibodies and anti-skeletal muscle microsome antibodies in sera from patients with myasthenia gravis (MG) were analyzed by means of immunoblotting, which was performed after SDS polyacrylamide gel electrophoresis of antigens to clarify the pathogenic role of the thymus in MG. Anti-thymus microsome antibodies were detected in 15 of the 20 cases of MG examined. The detection frequency (75%) was significantly higher than the corresponding frequency determined for anti-muscle microsome antibodies (35%) in the same group of patients. Thymic antigens with a molecular weight of 38 kilodaltons (KD), 60 KD and 220 KD were often recognized by antibodies in sera from MG patients studied here. The anti-thymus microsome antibodies were not cross-reactive with either thymic acetylcholine receptors or lymphocyte surfaces. These findings indicated that the specific antibodies were produced to the thymic microsomal fraction, and its frequency was higher than has been suspected in MG patients.
Asunto(s)
Autoanticuerpos/análisis , Músculos/inmunología , Miastenia Gravis/inmunología , Timo/inmunología , Adolescente , Adulto , Femenino , Humanos , Masculino , Microsomas , Persona de Mediana EdadRESUMEN
A 55-year-old man with idiopathic Parkinson's disease developed myasthenia gravis shortly after taking trihexyphenidyl. The myasthenic weakness waxed and waned with rise and fall in serum levels of trihexyphenidyl, without marked change of anti-acetylcholine receptor antibody titer.