Sensorineural hearing loss: a reversible effect of vigabatrin.
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Biomedical subjects
Publications and source records attributed to C Paschalis.
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An Ala53Thr mutation of the alpha-synuclein has been recently identified as a rare cause of familial Parkinson's disease (fPD). In the present study, the clinical characteristics of Parkinson's disease (PD) patients with Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with fPD patients without any known mutation. An investigator blinded to the results of the genetic analysis examined 15 alpha-synPD patients and 43 consecutive fPD patients. Demographic data, age at onset of the illness, duration of the disease and modality of presentation were collected. Segregation ratios for both sexes in individuals at risk of developing alpha-synPD were estimated. The Unified Parkinson's disease rating scale (UPDRS) was also completed. The 15 alpha-synPD patients were matched for duration of the disease and age at onset with 15 of the 43 fPD patients (MfPD). Comparisons were also made between 14 patients belonging to three multicase families with patterns of inheritance similar to alpha-synPD. The alpha-synPD patients were significantly younger (mean difference 11.8 years) and showed the first sign of the disease earlier in life (mean difference 12.7 years) as compared with the fPD patients. Tremor at onset was present in only one (6.7%) of the alpha -synPD patients compared with 18 (41.9%) of the fPD patients (P = 0.01). At the time of examination rigidity, postural instability, orthostatic hypotension and the overall clinical severity did not differ significantly either between alpha-synPD and fPD or between alpha-synPD and MfPD groups. Nevertheless, some clinically relevant trends concerning the psychiatric symptoms and complications of therapy were recognized. The overall clinical severity and the progression of the disease in patients with alpha-synPD did not differ from that of the fPD patients. The alpha-synPD patients presented the illness at a younger age and also had lower prevalence of tremor when compared with the fPD patients.
Many studies have provided data showing that family history of stroke (FHS) is associated with an increased risk of stroke. The association of the FHS with the various stroke subtypes has not been adequately studied. The purpose of this study was to assess the association of the FHS with the two major stroke types (cerebral haematomas and ischaemic strokes) and the four stroke subtypes (cardioembolic, large artery disease, small artery disease, and undetermined) in a Greek population. The FHS was obtained from 421 consecutive acute stroke patients and from 239 matched control subjects. Positive FHS was observed in 49% of all stroke patients compared with 28% of the control subjects [adjusted OR=2.06 (95% confidence intervals (CI) 1.42-3.00)]. Haematomas, ischaemic strokes, and from the ischaemic strokes, both large and small artery disease strokes were strongly associated with positive FHS compared with the control subjects [adjusted OR=2.06 (95% CI 9-3.04), 2.07 (95% CI 1.09-3.91), 2.05 (95% CI 1.24-3.38), and 2.76 (95% CI 1.55-4.91), respectively]. There was no difference between maternal and paternal heritable contribution.In conclusion, FHS was found in this study to be an independent risk factor for all strokes combined, for each stroke type, and for the large and small-artery disease stroke subtypes, but not for the cardioembolic and undetermined stroke subtypes.
We describe a patient with severe nodulocystic acne who developed disabling muscle stiffness and painful superimposed spasms of the neck, back and upper limbs 10 days after the onset of oral isotretinoin treatment. The muscle hyperactivity condition, which revealed the clinical and electromyographic features of the stiff-person syndrome, gradually resolved 2 weeks after drug withdrawal.
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Cases of central nervous system demyelination have been reported after recombinant hepatitis B vaccination, but no causal link has been clearly demonstrated. We present the first case report involving the occurrence of 2 episodes of leukoencephalitis in a previously healthy patient after vaccination and rechallenge with hepatitis B vaccine.
The likelihood that hand configuration is related to the development of carpal tunnel syndrome (CTS) was examined in this study. Based on neurophysiological criteria, 50 female subjects with CTS and 50 healthy female controls were selected and their external hand dimensions were measured. Our results showed that the palm length and third digit length were significantly shorter and the palm width larger in the subjects with CTS compared with controls. Regression analysis demonstrated that the hand ratio [(palm + third digit length)/palm width] was significantly correlated with median nerve conduction measurements. The hand ratio may be a simple and useful predictive measurement in determining the tendency for CTS.
OBJECTIVE: An Ala53Thr mutation of the alpha-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with patients with sporadic Parkinson's disease (sPD). METHODS: An investigator, blind to the results of the genetic analysis, examined 15 patients with alpha-synPD and 52 consecutive patients with sPD. Demographic data, age at onset of the illness, modality of presentation, and duration of PD were collected. The unified Parkinson's disease rating scale, the Hoehn and Yahr scale, and the Schwab-England scale were completed. The patients with alpha-synPD were matched for duration of disease with 32 of the 52 patients with sporadic PD (MsPD group). RESULTS: Patients with the alpha-synuclein mutation were significantly younger (mean 7.6 years), showed the first sign of the disease significantly earlier in life (mean 10.8 years), and had significantly longer duration of the disease compared with patients with sPD. Tremor at onset of the disease was present in only one (6.7%) of the patients with alpha-synPD, whereas it was present in 32 (61.5%) of the patients with sPD (p=0.0006). During the course of the disease one patient in the alpha-synPD group went on to develop tremor compared with six patients in the sPD group. Rigidity, bradykinesia, postural instability, orthostatic hypotension, intellectual impairment, depression, complications of therapy, and clinical severity of the disease at the time of examination did not differ significantly between patients with alpha-synPD and those with sPD, or between patients with alpha-synPD and the MsPD group. CONCLUSION: The younger age at onset of the illness, the much lower prevalence of tremor, and the longer duration of the disease characterise the clinical phenotype in this sample of patients with alpha-synPD. The other symptoms and signs of the illness did not seem to differentiate the patients with alpha-synPD from those with sPD.
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The authors describe the case of a 22-year-old woman with involuntary contractions of the sternocleidomastoid and trapezius muscles that resulted in turning movements of the head. The jerks displayed the clinical and neurophysiological characteristics of segmental myoclonus (SM) restricted to muscles supplied bilaterally by the first four cervical segments. Magnetic resonance imaging disclosed a tumor in the midline above the cisterna magna that was later histologically proven to be a choroid plexus papilloma. The patient's involuntary movements did not extend to other muscle groups or, in particular, to the palate, as one might have expected in the case of brainstem lesions. Myoclonus was the sole clinical manifestation of the tumor in this patient; other signs and symptoms invariably reported in other cases of posterior fossa papilloma, such as increased intracranial pressure or cranial nerve palsies, were absent. Release from suprasegmental control is suggested as a possible pathophysiological mechanism in this case of SM.
Sensory studies of four fingers were performed on 72 patients with early (distal motor latency <4.2 ms) carpal tunnel syndrome (CTS) and on 43 control subjects. Results demonstrate that sensory studies of digit 4 yields the highest sensitivity (88%) for diagnosis of early CTS. The sensitivity of digit 1, digit 2, and digit 3 was 61%, 22%, and 50%, respectively.
The purpose of the study was to compare the electrophysiological parameters (nerve conduction studies and quantitative electromyography [EMG]) between patients with chronic peripheral arterial disease (PAD) and normal control subjects. Forty patients with PAD and 30 control subjects (40 legs) were evaluated clinically and electrophysiologically using previously described methods. The amplitude of compound muscle action potentials (CMAPs) and the motor conduction velocities (MCVs) of peroneal and tibial nerve for most patients with PAD were within normal limits but compared with those of the controls, it was found that the peroneal and tibial MCVs as well as the amplitude of sural nerve were significantly decreased. The EMG testing of patients with PAD and controls of the anterior tibialis and the gastrocnemius muscle did not show evidence of denervation or myopathic abnormalities. However, the mean amplitude and duration of both muscles were significantly larger compared with the controls. Routine electrophysiological studies are not the appropriate (sensitive enough) tests for detecting peripheral nerve or muscle dysfunction associated with PAD.
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Cigarette smoking, coffee and alcohol use were investigated prospectively in 37 high-dose benzodiazepine (BZD) regular users (HDRU), 87 low-dose BZD regular users (LDRU), 50 low-dose BZD occasional users (LDOU) and in 37 non-BZD users (control subjects). The frequency of smokers was significantly greater in the HDRU than in the other three groups studied. Also, the HDRU consumed a significantly greater number of cigarettes and dose of caffeine per day than the other subjects investigated. Also, alcohol dependence was significantly more frequent in the HDRU. Regression analysis showed a significant positive correlation between the BZD dose and both the cigarettes and the caffeine consumed per day. The findings suggest that BZD should be prescribed with caution in individuals who are heavy smokers or are consuming large amounts of coffee and alcohol.
Dermatomyositis is a chronic inflammatory myopathy with severe prognosis. A 57-year-old woman suffering from dermatomyositis is presented who, in the course of the disease, developed acute spontaneous esophageal rupture due to dermatomyositis involvement of the esophagus. She was successfully treated with total esophagectomy and stomach interposition. This is the first report of spontaneous rupture of esophagus in dermatomyositis.
BACKGROUND AND PURPOSE: Microemboli have been implicated in the etiology of neuropsychological deficits after cardiopulmonary bypass. This study examined the incidence of high-intensity transcranial signals (microemboli) and their relation to changes in neuropsychological performance after surgery. METHODS: Transcranial Doppler ultrasonography was used to measure middle cerebral artery blood flow velocity and detect microemboli. The number of high-intensity transcranial signals was determined and related to a neurological examination and absolute changes in neuropsychological performance as well as the number of patients considered to exhibit a neuropsychological deficit. Data were available on 100 consenting patients undergoing routine cardiopulmonary bypass. Fifty of the patients were randomly assigned to a procedure that included a 40-microns arterial line filter, and 50 had the procedure without any arterial line filter. RESULTS: Significantly more patients were found to have neuropsychological deficits in the group without the arterial line filter at both 8 days (P < .05) and 8 weeks (P < .03) after surgery. In addition, more "soft" neurological signs were found in the nonfiltered group 24 hours after surgery (P < .05). More high-intensity transcranial signals were found in the nonfiltered group, and the number of high-intensity transcranial signals was found to be related to the likelihood of a patient having a neuropsychological deficit at 8 weeks. CONCLUSIONS: These data suggest that neuropsychological deficits after routine cardiopulmonary bypass are related to the number of microemboli delivered during surgery. Furthermore, the numbers of microemboli may be reduced by including a 40-microns filter on the arterial line.
A postmortem inquiry of 105 legal documents concerning suicide deaths obtained from the Office of the District Attorney covering the province of Achaia was studied for the 15-year period 1970-1984. The suicides were classified into two groups; group A consisting of 63 suicides (with a history of psychiatric illness) and group B consisting of 42 suicides (with no history of psychiatric disturbance). The findings suggest that people with a history of psychiatric illness committing suicide are disorganized in their personal and social life, with frequent previous suicidal attempts. Whereas, the nonpsychiatrically diagnosed group seemed to commit suicide under outside pressures which dislocated their lives progressively or abruptly. The differences between the two suicide groups are discussed and compared with similar studies regarding suicidal behavior.
To quantitate embolic risk we studied a retrospective series of 61 patients with strictly defined bacterial endocarditis. Eighteen patients had neurological complications attributable to cerebral embolism. Seventeen embolic episodes occurred prior to antibiotic treatment and 8 episodes after its commencement. The rate of embolism per patient-week during a 20-week observation period showed a highly significant almost 4-fold reduction to a low level soon after antibiotics were started. Patients already on anticoagulation for prosthetic valves had the same embolic risk as those not so treated. The evidence suggests that anticoagulation at the time of diagnosis of bacterial endocarditis is not warranted.