Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case.
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Biomedical subjects
Publications and source records attributed to N Canal.
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Ganglioside treatment was evaluated with a multicenter, randomized, double-blind, controlled, cross-over vs placebo trial in 140 insulin-treated diabetic subjects with peripheral neuropathy. The patients entered the study when they showed an impairment in at least two of the electroneurographic parameters, and were assigned to two protocols according to the presence and severity of their neurological symptoms. Ninety-seven diabetic subjects with no or mild symptoms were assigned to protocol I, whereas 43 symptomatic patients were assigned to protocol II. the treatment periods lasted 6 weeks with an intermediate washout period of 4 weeks. The treatment consisted in the daily i.m. administration of 20 mg gangliosides or of placebo. Electroneurographic parameters were recorded at the beginning and at the end of each treatment period, whereas clinical and metabolic data (mean daily plasma glucose, glycosuria and glycosylated hemoglobin) were evaluated every three weeks in protocol I and every two weeks in protocol II. No change in the metabolic parameters was observed throughout the trial period. However, the treatment induced a statistically significant improvement of paresthesias (protocol II) and of some electrophysiological parameters; in particular, ganglioside treatment improved MCV of peroneal nerve (p less than 0.03) in patients of protocol I, MCV o ulnar nerve (p less than 0.002) and SCV of median nerve (p less than 0.06) in patients of protocol II. Furthermore, 22 subjects of protocol II showed a 'drug preference' while 10 preferred placebo and 9 had no preference. In conclusion, ganglioside treatment seems to have a positive effect on diabetic peripheral neuropathy, improving both some symptoms and some electrophysiological parameters.
The prevalence of clinical and subclinical peripheral neuropathy was evaluated in 51 unselected children at the time of onset of type I diabetes. Twenty-eight patients were followed for one year in order to establish the influence of metabolic control on peripheral nerve function. Twenty-two % of the diabetic children showed nerve conduction abnormalities at the onset and 11.7% had clinical features of peripheral neuropathy. After one year of disease, these figures had changed to 14.3% and 7.1%. Five of 7 children with altered electrophysiological tests in the baseline assessment had had normalization of all parameters one year later. No correlations between insulin requirement and nerve conduction were found. The M value was significantly correlated only with median sensory conduction velocity (p less than 0.005). Significant correlations were demonstrated between HbA1 concentration and both peroneal motor conduction velocity (p less than 0.025) and median sensory conduction velocity (p less than 0.005); these correlations were still present after one year of disease. In the first period of diabetic disease there is functional rather than structural damage of the nerves. The pathogenetic role of hyperglycemia is confirmed; however individual susceptibility to nerve dysfunction may play an important role in the nerve impairment in diabetes.
The present study evaluates the reproducibility of five cardiovascular reflex tests, deep breathing (DB), Valsalva maneuver (VM), sustained hand-grip (SHG), postural hypotension (PH) and lying to standing (LS) in normal subjects and in insulin dependent (type I) diabetic patients. The study was carried out in 10 normal subjects, in 10 diabetics with autonomic neuropathy and in 10 diabetics without autonomic neuropathy. The five cardiovascular reflex tests were performed five times on five consecutive days by the same investigator and in identical basal conditions. The intraindividual variability of DB, LS and VM was significantly reduced in diabetics with autonomic neuropathy compared with normal controls, but there was no difference between diabetics without neuropathy and normal controls. The intraindividual variability of PH was significantly increased in diabetics with autonomic neuropathy compared with diabetics without autonomic neuropathy and with normal controls. There was no difference among the three groups in the reproducibility of SHG. In normal subjects the intraindividual variability only exceptionally produced a shift from normal to abnormal values or vice versa; in diabetics with autonomic neuropathy this shift was more frequent.
Common thought is that diabetic neuropathy is a predisposing factor to entrapment syndromes. Carpal tunnel syndrome (CTS) is the most frequent entrapment neuropathy; females and old people are most frequently affected (Comi et al., 1978). Prevalence of CTS in diabetics and associated risk factors were studied in 401 patients (208 males and 193 females) with insulin-dependent and non-insulin-dependent diabetes using electrophysiological techniques. Median nerve sensory and motor conduction velocity, ulnar and peroneal nerve motor conduction velocity and sural nerve sensory conduction velocity were investigated in all patients. Diagnostic criteria for CTS were the presence of delayed median nerve sensory conduction velocity in the palm-wrist tract and of increased distal motor latency. Polyneuropathy was defined by slowing-down of conduction velocity in two or more nerves. Forty-five patients (11.2%), 36 females and 9 males, showed CTS. One-hundred-sixty-eight patients (41.8%), 74 females and 94 males, were suffering from peripheral neuropathy. The strongest risk factors for CTS, in order of importance, were: female sex, older age and presence of neuropathy. Polyneuropathy but not CTS was related to duration of diabetes.
The levels of the cyclic adenosine 3',5'-monophosphate (cyclic AMP)-phosphodiesterase (PDE) and the biochemical properties of its endogenous protein activator (PDEA) obtained from the human brain cortex and from different types of human cerebral tumours have been evaluated. The effects of the various PDEAs were studied measuring the activation of an activator-depleted cyclic AMP-PDE prepared from a normal brain cortex. The PDEA, obtained from normal and pathological tissues, did not change the affinity of the purified PDE for cyclic AMP, while it increased the Vmax of the enzyme. On the other hand, a cross-activation study showed that the PDEA lacked tissue specificity and was present in the tissue in excess over the enzyme. The levels of cyclic AMP-PDE and PDEA were much higher in normal than in tumoural tissues. The enzyme activity decreased in cerebral tumours more markedly than the protein activator. This biochemical pattern was more evident in the tumours of glial origin which are the most malignant.
A case of fatal aplastic anemia due to carbamazepine treatment in an epileptic woman is reported. Despite concerns of fatal bone marrow toxicity due to carbamazepine, this is only the fourth documented and published report. Carbamazepine is a safe drug, but physicians and patients should be aware of the exceedingly rare but potentially fatal side effects, better prevented by clinical than by laboratory monitoring.
We evaluated pattern visual evoked potentials (PVEPs) in patients with Alzheimer's disease (AD) and correlated the neurophysiological results with visuospatial performances in order to understand better the underlying causes of visual disturbances. Latencies and topographical distribution of PVEP components were evaluated in 20 AD patients who underwent an extensive battery of neuropsychological tests. Mean latencies of N70 and P100 were normal in AD patients, while mean latencies of N140 and P200 were significantly increased in comparison with age-matched healthy controls. The topographical distribution of PVEP components did not show any significant difference between the two groups. Visuospatial impairment was detected in 8 patients (40%). Statistically significant positive correlations were observed between P200 amplitude (posterior right hemisphere mean z score) and performance in visuospatial tests. Our data are consistent with a sparing of foveal retinocortical pathways and with the selective dysfunction of either corticocortical connections between the striate cortex and the visual associative structures or of right temporo-parieto-occipital visual analyzers.
In a previous transcranial Doppler (TCD) study, we demonstrated a decrease in blood flow velocity in the proximal tract of the middle cerebral artery (MCA) in patients with Alzheimer's disease (AD). In these patients there was also an asymmetry in blood flow velocity which positively correlated with the cognitive asymmetry often seen in the early phase of AD. In this study we found a correlation between the absolute values and asymmetry indexes of MCA blood flow velocity with adjusted metabolic values and asymmetry indexes of the relative cortical frontotemporoparietal (FTP) areas, evaluated by FDG-PET, and with neuropsychological asymmetry indexes. Patients with prevalent visuospatial deficits (right hemisphere dysfunction) showed significant decreases in right MCA blood flow velocity and right FTP cortical glucose hypometabolism, whereas in patients with prevalent language deficits (left hemisphere dysfunction), these signs were observed on the other side. In AD patients, the decrease of blood flow velocity in MCA might be due to reduced metabolic demands in the temporoparietal cortical areas primarily affected by AD.
In 15 normotensive subjects, 17 newly diagnosed, untreated hypertensive patients, and 22 effectively treated hypertensive patients, a battery of neuropsychological tests was given. All subjects were neurologically asymptomatic. The neuropsychological battery included tests evaluating global cognitive functions (Card Sorting Test, Wechsler Memory Scale, Progressive Matrices 1938), as well as specific cognitive functions (Benton Test, subtests of the Wechsler-Bellevue Scale). Normotensive controls obtained better scores in all the tests. Statistical analysis of th scores suggests that hypertension is highly correlated with impairment of memory, logical reasoning, visuospatial organization, and attention. Therapy seems to impair attention, while the duration of disease seems to influence visuospatial performances.