RESUMEN
In 1981 a report appeared of a patient with Duchenne muscular dystrophy associated with dwarfism caused by growth hormone deficiency, in whom the muscular disease was unusually benign. The authors suggested that the benign course might be related to the growth hormone deficiency and dwarfism. Other authors later supported this idea, having observed that in dystrophic mice and hamsters with congenital and experimentally induced pituitary dwarfism, respectively, pathological expressions of the dystrophy were markedly reduced. In this paper one case of Becker and one of limb-girdle dystrophy, each associated with short stature and growth hormone deficiency are described. In these cases the disease did not have a particularly benign course. It is concluded that caution is necessary, at least in certain cases, before an association between reduced muscular growth and the dystrophic process can be assumed.
Asunto(s)
Enanismo Hipofisario/complicaciones , Distrofias Musculares/complicaciones , Adolescente , Adulto , Enanismo Hipofisario/tratamiento farmacológico , Femenino , Hormona del Crecimiento/uso terapéutico , Humanos , Masculino , Distrofias Musculares/genéticaRESUMEN
Sarcoplasmic reticulum Ca2+-ATPase, acylphosphatase and other soluble enzymes (creatine kinase, lactate dehydrogenase, aldolase and pyruvate kinase) were assayed in muscle biopsies from patients affected by Duchenne muscular dystrophy (DMD) and from normal controls. Specific activities of all the soluble enzymes were decreased in dystrophic muscle, acylphosphatase exhibiting the most marked and significant decrease comparable to that of creatine kinase, in spite of a moderate increase in serum levels. Also, Ca2+-ATPase, particularly the calcium-dependent activity, was decreased in dystrophic muscle. A positive correlation, higher than with the other soluble enzymes, was obtained between acylphosphatase specific activity and the percentage of Ca2+-activation of Ca2+-ATPase. These findings: suggest an impairment of microsomal calcium uptake which could be, at least in part, responsible for sarcoplasmic calcium accumulation observed in DMD; do not disagree with an hypothesized role of acylphosphatase in intracellular calcium homeostasis, consistent with the enzyme's demonstrated hydrolytic activity on the phosphorylated intermediate of Ca2+-ATPase.
Asunto(s)
Ácido Anhídrido Hidrolasas , ATPasas Transportadoras de Calcio/metabolismo , Músculos/enzimología , Distrofias Musculares/enzimología , Monoéster Fosfórico Hidrolasas/metabolismo , Retículo Sarcoplasmático/enzimología , Niño , Preescolar , Humanos , Masculino , AcilfosfatasaRESUMEN
Results obtained with P.E. therapy on 19 myasthenic patients are reported. 15 of them improved during treatment and 4 remained unchanged. We believe P.E. is an useful therapy in M.G. because it produces a rapid improvement in most patients.
Asunto(s)
Miastenia Gravis/terapia , Intercambio Plasmático , Adolescente , Adulto , Anciano , Azatioprina/uso terapéutico , Inhibidores de la Colinesterasa/uso terapéutico , Estudios de Evaluación como Asunto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Miastenia Gravis/tratamiento farmacológico , TimectomíaRESUMEN
The AA. report the results obtained with Plasma Exchange (P.E.) therapy on 24 cases of polyradiculoneuritis; eleven patients had typical Guillain-Barré Syndrome (G.B.S.) ten suffered from a chronic progressive form and three were affected by a relapsing form. The acute patients were selected according to criteria established by the NNCDS Committee (1978) while guidelines laid down by Pineas & Load (1978) were followed in choosing chronic cases. Patients with G.B.S. had four sessions of P.E. at intervals of one or two days while those with chronic forms of polyradiculoneuritis had a total of 6 sessions spaced one to three days apart. P.E. produced no apparent change in chronic progressive patients but two out of three cases with the chronic relapsing form showed rapid and steady improvement resulting in complete cure within a few months. Nine of the eleven G.B.S. patients showed after only one or two sessions a clear and rapid improvement which led to a complete cure within a matter of weeks. The remaining 2 cases showed only partial improvement at first and remained stationary thereafter. The findings confirm the usefulness of P.E. in acute and chronic relapsing radiculopolyneuritis. However, potential side effects and the procedure's high cost suggest that its use should be limited to carefully selected cases, and in particular to those involving respiratory disorders.