ABSTRACT
Two cases of isolated neuropathy, not consequent to acute trauma, of the axillary nerve of young volleyball players are described. Interest in the pathology derives from the rarity of such case reports and the fact that the pathogenesis may be linked to a specific sporting activity. The lesion site is thought to be in the quadrilateral space.
Subject(s)
Athletic Injuries/complications , Axilla/innervation , Nerve Compression Syndromes/etiology , Adolescent , Adult , Athletic Injuries/diagnosis , Athletic Injuries/therapy , Female , Humans , Nerve Compression Syndromes/diagnosis , Nerve Compression Syndromes/therapyABSTRACT
One hundred and twelve diabetic patients were submitted to several tests for evaluation of autonomic cardiovascular and sudomotor function. It was found that a patient could be positive to one test and negative to others, thus confirming the presence of sectorial lesions which do not affect the autonomic nervous system uniformly. The parasympathetic system is more frequently and precociously affected than the sympathetic system. The tests used for investigating the sympathetic component, the sympathetic skin response (SSR) gives results which are more frequently and precociously altered.
Subject(s)
Autonomic Nervous System/physiopathology , Diabetic Neuropathies/diagnosis , Neurologic Examination , Adolescent , Adult , Aged , Cardiovascular System/innervation , Diabetic Neuropathies/physiopathology , Electrophysiology , Female , Humans , Male , Middle Aged , Skin/innervation , Sympathetic Nervous System/physiopathologyABSTRACT
Twenty subjects suffering from chronic renal failure and undergoing continual treatment by haemodialysis were examined, and the following values assessed: maximum conduction velocity of the sensory and motor fibres of the common peroneal nerve, the relative electromyographic parameters, and the sympathetic skin response at the level of the foot. The results obtained have shown that autonomic neuropathy involving the sympathetic sudomotor is less frequent than sensorimotor neuropathy. The autonomic failures are scanty in the mild forms of sensorimotor neuropathy, with minor latency in the onset of uremia.
Subject(s)
Kidney Failure, Chronic/physiopathology , Sympathetic Nervous System/physiopathology , Adult , Galvanic Skin Response , Humans , Kidney Failure, Chronic/complications , Middle Aged , Motor Neurons/physiology , Neural Conduction , Neurons, Afferent/physiologyABSTRACT
As it has now been ascertained that there is cardiac damage during the course of Duchenne muscular dystrophy (DMD), the authors have aimed at evaluating the relationship existing between the development of heart damage with respect to the advancement of age, and, at finding a sure prognostic index of the illness, easily acquired by using non-invasive techniques. Whilst the parameters which show the behaviour of the pumping function of the left ventricle (EF, Delta D%) did not demonstrate a clear correlation regarding their alteration in relation to age, the relationship PEP/LVET showed an accuracy of 92% predicting the terms of survival of patients suffering from DMD.
Subject(s)
Cardiomyopathies/diagnosis , Muscular Dystrophies/complications , Adolescent , Adult , Age Factors , Cardiomyopathies/complications , Child , Echocardiography , Humans , Male , Myocardial Contraction , Prognosis , SyndromeABSTRACT
The percentage of echinocytes in the blood from patients affected by Duchenne muscular dystrophy, in mothers carriers of the dystrophic state, and in Steinert dystrophic patients, has been investigated after addition of low levels of lysolecithin. The echinocyte content was significantly higher in both Duchenne patients and in carriers, and lower in Steinert patients than in controls. The extents of the differences suggest the possibility to use this methodology as a diagnostic test in Duchenne muscular dystrophy.
Subject(s)
Erythrocytes/drug effects , Lysophosphatidylcholines/pharmacology , Muscular Dystrophies/blood , Adolescent , Child , Erythrocytes/pathology , Female , Genetic Carrier Screening , Humans , Male , Muscular Dystrophies/diagnosisABSTRACT
We have studied the alterations of fluidity in intact erythrocytes and in erythrocyte membranes from patients with Duchenne muscular dystrophy. The interest of this study was to comparison directly two types of results; these demonstrate an increase of fluidity in the erythrocytic membranes, no changes are present when the label is incorporated in intact erythrocytes. It might be inferred that hypotonic haemolysis removes components that are more weakly bound in Duchenne membranes, and that exert an immobilizing effect on the membrane lipids.
Subject(s)
Erythrocyte Membrane/metabolism , Erythrocytes/metabolism , Membrane Fluidity , Muscular Dystrophies/blood , Adolescent , Adult , Child , Electron Spin Resonance Spectroscopy , Female , Humans , Male , Oxazoles , Spin Labels , Stearic AcidsSubject(s)
Erythrocytes/cytology , Muscular Dystrophies/blood , Myotonia/blood , Adolescent , Adult , Child , Erythrocyte Count , Erythrocyte Membrane/drug effects , Erythrocytes/drug effects , Female , Genetic Carrier Screening , Humans , Lysophosphatidylcholines/pharmacology , Male , Membrane Fluidity , Muscular Dystrophies/geneticsABSTRACT
Lipid-soluble spin labels were used to probe the fluidity of membrane lipids in erythrocyte membranes from patients with Duchenne muscular dystrophy. A greater mobility of spin label motion was noticed at the surface of the Duchenne erythrocyte membranes in comparison with the similary labeled normal human erythrocytes. Changes in the protein conformation and/or protein-lipid organization, as a consequence of an altered membrane lipid fluidity, have been demonstrated by the use of a sulfhydryl group specific protein spin label. Strongly immobilized sulfhydryl groups appear to be located both at the membrane surface and deep within the lipid bilayer. The ratio of the spectral amplitude of the spin label attached to weakly immobilized sulfhydryl groups to that of strongly immobilized SH-groups is significantly greater in Duchenne membranes, compared to those of controls. These studies suggest alterations in lipid-protein organization at the surface of Duchenne erythrocytes, indicating that Duchenne muscular dystrophy may be a disease resulting from a membrane abnormality at the molecular level.
Subject(s)
Erythrocyte Membrane/analysis , Erythrocytes/analysis , Muscular Dystrophies/blood , Electron Spin Resonance Spectroscopy , Humans , Membrane Fluidity , Membrane Lipids/analysis , Membrane Proteins/analysisABSTRACT
Verification of the hypothesis that the inheritance of the Progressive Muscular Dystrophies (PMD) may involve dispersed genes, throiugh the study of a sample of 105 patients revealed that 82% of the Duchenne type belong to blood group O, while 79% of the limb-girdle type belong to group A. The fact that the Duchenne gene is sex-linked while the ABO locus is on chromosome 9 confirms the "dispersed genes" hypothesis, with important implications for further research, for genetic counselin and possibly for prevention.
Subject(s)
ABO Blood-Group System , Blood Group Antigens , Genes , Muscular Dystrophies/genetics , HumansABSTRACT
Electron spin resonance studies of erythrocyte membranes from patients with Duchenne muscular dystrophy exhibit changes in the physical state of lipids and proteins in membranes when compared to membranes from normal subjects. The results suggest that the alterations in membrane lipid-protein organization are present in this disease.
Subject(s)
Erythrocyte Membrane/analysis , Erythrocytes/analysis , Erythrocytes/pathology , Muscular Dystrophies/blood , Spin Labels , Electron Spin Resonance Spectroscopy , Humans , Lipids/analysis , Proteins/analysisABSTRACT
The transition temperature of erythrocyte ghosts of normal subjects is about 18-20 degrees C. We have studied the viscosity of erythrocyte ghosts of dystrophic children, showing that the transition shifts to lower temperatures (17-18 degrees C). After treatment with erythrocytic compounds like L-Lyso phosphatidyl-Choline dystrophic erythrocytes hemolize at lower Lysophosphatidyl-Choline concentration and at a greater extents than these of normal and carriers subjects.
Subject(s)
Erythrocyte Membrane/analysis , Erythrocytes/analysis , Muscular Dystrophies/blood , Erythrocytes/drug effects , Erythrocytes/metabolism , Hemoglobins/metabolism , Humans , Lysophosphatidylcholines/pharmacology , Temperature , ViscosityABSTRACT
A study was carried out after i.v. administration of 200 mg/Kg of taurine on 37 epileptic patients in whom frequency and duration of seizures was considerable. Twenty-two subjects were given taurine for 15 consecutive days and then, once a week for a period of 6 weeks. In 5 control cases, the daily dosage wascontinued up to the 30th day; in 5 more, up to the 45th day and finally, in 5 up to the 60th day. Out of 37 patients 15 had temporal lobe epilepsy, 10 were cases of Lennox-Gastaut syndrome, 5 had generalised epilepsy, either convulsive or non-convulsive, 4 had H.H.E. syndrome and three brothers had myoclonic familial progressive epilepsy. In each group the results were similar and may be summarised as follows: I) both interictal activity and electroclinical seizures were reduced by about 30% within the first 10 days of administration; II) between the 30th and 45th day the ictal and interictal activity returned to its initial values; III) after this period, on the 60th day, values were similar to the initial ones; IV) as far as interictal activity is concerned, the same effect was found during nocturnal sleep; V) no significant changes were noticed in nocturnal sleep cycles and stages; VI) there was no apparent evidence that any phase of sleep might facilitate any improvement. Improvement was observed in about 50% of the cases (21) both physically and psychologically. The physical improvement was noticed above all in the appearence of the skin while the psychological improvement was mostly related to both attention and memory. Any pathological aspect of personality did not appear to be modified.