APC resistance and factor V Leiden (FV:Q506) mutation in patients with ischemic cerebral events. Vienna Thrombophilia in Stroke Study Group (VITISS)
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Biomedical subjects
Publications and source records attributed to J Finsterer.
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OBJECTIVES: to assess the influence of the skin and muscle temperatures on the turns per second (T/s) and the amplitude per turn (A/T) and to find out whether turn/amplitude analysis requires temperature monitoring. SUBJECTS: ten healthy individuals (three women, seven men) aged 23 to 36 years. METHOD: recording of two electromyograms (EMGs) in the right biceps brachii muscle from ten locations each, during isometric contractions with 30% of the elbow flexors' maximum force. The first EMG was recorded after warming the muscle to at least 37 degrees C and the second EMG after cooling the muscle to at least 27 degrees C. RESULTS: lowering the muscle temperature by an average of 10.9 degrees C, the mean T/s decreased from 484 to 436 (P = 0.002), the mean A/T increased from 476 to 513 (P = NS) and the mean ratio T/s:A/T decreased from 1.1 to 0.91 (P =0. 0001). None of the individual results became patholgical after cooling the muscle. CONCLUSION: in a range of 27 to 37 degrees C, turn/amplitude analysis can be performed without temperature monitoring.
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This study was undertaken to determine whether anti-GM1 titres are raised in polyneuropathies of unknown origin and whether determination of these titres is useful for diagnosing these conditions. The study population comprised 20 controls (aged 36-88 years), 12 patients with polyneuropathies of known origin (aged 31-81 years) and 15 patients with polyneuropathies of unknown origin (aged 40-77 years). Antibody levels were measured using a commercial GM1 enzyme linked immunosorbent assay kit (Buehlmann Laboratories). Mean anti-GM1 IgG and IgM antibody titres were not raised in patients with polyneuropathies of unknown origin. Anti-GM1 IgG antibody titres were raised in one and GM1 IgM antibody titres in none of the patients with polyneuropathies of unknown origin. In conclusion, GM1 antibody levels are rarely raised in polyneuropathies of unknown origin and probably play a minor role in the pathogenesis of these conditions.
We report a 74-year-old woman with progressive cognitial deterioration and changes in personality. She had no clinical signs of an inflammatory CNS process, but brain CT and MRI scans and cytologic examination of the CSF were initially indicative of encephalitis and ventriculitis. Antiviral and antibacterial therapy had no effect on the course of symptoms, and patient became comatose. We established the diagnosis of a primary CNS mantle cell lymphoma (PCNSL) and began corticosteroids. Within a few days the patient became alert and was able to walk again. Nonenhancing and non-space-occupying PCNSLs are rare but must be considered in the differential diagnosis of coma and encephalitis. Comatose PCNSL patients without radiographic evidence for herniation can be successfully treated with corticosteroids even if the EEG has a burst suppression pattern.
We report a 67-year-old man who developed yes/yes head tremor without appendicular tremor six weeks after right occipital and bilateral cerebellar infarction. The tremor was resting-postural. Its activity increased with excitement, decreased either after ethanol, lateroflexion or rest and stopped at sleep. Four-vessel angiography revealed a well collateralised occlusion of both vertebral arteries. Needle-EMG recordings showed rhythmic, synchronous agonist/antagonist activity in both the splenius capitis and sternocleidomastoideus muscles at a frequency of 2-3 Hz. After administration of botulinum toxin A (DysportR), the tremor markedly improved and vanished completely after a booster. Since then the tremor did not reappear. Delayed-onset, yes/yes head tremor without appendicular tremor may be caused by bilateral cerebellar infarction and can be successfully relieved with botulinum toxin A.
Little is known about the effect of sustained effort on turn/amplitude parameters. Therefore, the turn/amplitude analysis was applied at contractions with 50 +/- 5% of the right biceps brachii muscle's maximum force to 31 healthy human subjects (19-67 years old), 15 patients with neuropathies (30-83 years old) and 15 patients with myopathies (16-66 years old). After 3 min of sustained contraction, turns/second (T/S) decreased by 50% in healthy human subjects and by 25% in patients with neuropathies and patients with myopathies. The amplitude/turn (A/T) increased by 25% in healthy human subjects and remained almost unchanged in pathological cases. Compared to its onset values, the ratio A/T:T/S increased by > 150% in healthy human subjects and by 50% in patients with myopathies. With decreasing T/S, the A/T increased in healthy human subjects, decreased in patients with neuropathies and stayed unchanged in patients with myopathies. With this method detection rates of 60% for patients with neuropathies and 67% for patients with myopathies were found. The most reliable turn/amplitude parameters for the identification of pathological cases were the T/S and the A/T. Evaluating these two parameters, the rate of false positive results was 3.2%. The study demonstrated changes during sustained effort to be different between sexes and between healthy human subjects and patients with neuromuscular disorders. It described turn/amplitude analysis during sustained effort as a supplemental electrophysiological device for the detection of patients with neuromuscular disorders. The method is objective, fast and reliable.
Measuring lactate during moderate exercise is a useful tool in the diagnosis of mitochondrial disorders. It was the aim of this study, to develop reference limits for lactate at rest, during exercise and after the exercise. We investigated 18 healthy subjects and 6 patients with a mitochondrial disorder. In controls, serum lactate levels were comparable to already reported findings. In 4 patients lactate levels were markedly increased during the exercise. Measurement of serum lactate is a simple and useful step in the diagnosis of mitochondrial disorders.
By means of a comprehensive cardiologic examination "definite" cardiac involvement was found in 71% of patients with myotonic dystrophy (MD). In 50% of patients with Becker's muscular dystrophy (BMD) and in 70% of patients with mitochondrial myopathy (MMP). "Equivocal" cardiac involvement was found in 21% of patients with MD, in 50% of patients with BMD and in 20% of patients with MMP. The correlation between cardiac involvement and the neurological deficit was weak.
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Multifocal motor neuropathy, which mimics lower motor neuron disease, is a rare and curious demyelinating neuropathy characterised by slowly progressive, asymmetric limb weakness within the distribution of individual peripheral nerves, wasting, cramps, fasciculations and rare sensory involvement, but without upper motor neuron signs. The cardinal feature and primary pathophysiological basis for the weakness is the multifocal motor conduction block which remains stable for years at the same site and is confined to motor axons. It is defined as > 50% reduction in both the CMAP and the negative peak area on proximal stimulation, as compared with the distal stimulus response without any change in the negative peak duration. Nerves at the site of the conduction block show demyelination, endoneural edema, rudimentary onion bulbs and lymphocytic inflammation. Sensory nerves may show mild demyelination, axon loss and lymphocytic inflammation. The majority of patients shows elevated titers of anti-glycolipid antibodies, which may block the Na+ channels, produce demyelination or interfere with remyelination. However, their role in the pathogenesis of multifocal motor neuropathy remains uncertain. Multifocal motor neuropathy is regarded as the predominantly motor variant of chronic inflammatory demyelinating polyneuropathy and can be treated best with immunoglobulins and cyclophosphamide.
Turn/amplitude-analysis (TAA) has been applied to interference patterns of the right m. biceps brachii and the right m. rectus femoris of 33 healthy women aged 19 to 53 years. Interference patterns were recorded at 20, 40 and 60% +/- 10% of both muscles maximum force. The dependency of the turn/amplitude-parameters (T/A-parameters) on age, muscle and force is discussed. Normal limits for individual means of the T/A-parameters were calculated in form of the +/- 2 SD. Normal limits for single values were calculated in form of clouds. Both methods were applied to the values of each force level (20, 40 and 60%) and of all force levels together (10-70%). Clouds of the present study were clearly different from those of Stålberg. Evaluating individual means rates of false positive results were higher compared to those of single values. Rates of false positive results for single values and individual means of the parameters T/S and A/T were lower at the 20% force level than at the higher force levels and without measuring force. For the application of the TAA we advise every electrophysiological laboratory 1) to evaluate single values instead of individual means, 2) to use clouds instead of the +/- 2 SD as normal limits, 3) to measure force until a modified cloud-method will be applicable and 4) to elaborate its own normal limits.
From the right m. biceps brachii and the right m. rectus femoris of 28 healthy women aged 19 to 30 years and 16 possible and obligate Duchenne-carriers aged 26 to 40 years we recorded 20 motor unit action potentials each. A satellite potential was defined as electrical activity following or preceding the main component and separated from it by an isoelectrical interval of at least 1, 2 or 3 ms. The most appropriate of these 3 satellite potential definitions is the one that proceeds from a 1 ms minimum interval, because it allows the detection of more satellite potentials than the two others. Applying this definition (minimum interval between the main component and the satellite potential 1 ms) to our controls data we computed a mean interval duration of 5 (m. biceps brachii) respectively 3.4 ms (m. rectus femoris), a mean satellite potential duration of 4.4 (m. biceps brachii) respectively 3.7 ms (m. rectus femoris) and a mean satellite rate of either 3.9 (m. biceps brachii) or 1.6% (m. rectus femoris). We observed up to 3 motor unit action potentials with a satellite potential and up to 1 polyphasic motor unit action potential with a satellite potential per 20 motor unit action potentials. There was little difference between the controls and the Duchenne-carriers satellite parameter means. Only the m. rectus femoris satellite potential duration was increased in Duchenne-carriers.(ABSTRACT TRUNCATED AT 250 WORDS)
Turn/amplitude-analysis was applied to the right m. biceps brachii and the right m. rectus femoris of 30 healthy women aged 19 to 39 years. Interference patterns were recorded at 20, 40 and 60% of the individual maximum force of both muscles. We evaluated the turns/s, the amplitude/turn and the ratios amplitude/turns:turns/s and turns/s:amplitude/turn. Normal values of the turn/amplitude-parameter were calculated as means +/- 2 SD at defined levels of force (table 1 and fig. 2) and in form of clouds (fig. 3). Our clouds were clearly different from those of Stalberg. Since normal values of our and other studies were inconsistent we believe that every laboratory has to elaborate its own normal values. Turns/s, amplitude/turn and the ratio turns/s:amplitude/turn increased and the ratio amplitude/turns/s decreased with increasing force (fig. 6 and 7). Turn/amplitude-parameters were partly significantly higher or lower in the m. biceps brachii than in the m. rectus femoris (fig. 8.).
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Typical symptoms of hypothyroidism are lethargy, cold intolerance, slowing of intellectual and motor activity, declining appetite, increasing weight, and dry skin. A 43-year-old man with hypothyroidism presented with dysarthria as the leading symptom. Further symptoms were cramps in the legs after exercise, dizziness, and stunned feeling. He suffered from severe snoring for 4 years, and obstructive sleep apnea syndrome was diagnosed 2 years before. Creatine phosphokinase was elevated. Electromyography was myogenic. Echocardiography showed a thickened myocardium. An otolaryngologic investigation revealed macroglossia and hypertrophy of the uvula. After administration of L-thyroxine, the symptoms rapidly improved. Dysarthria may be the leading symptom of hypothyroidism and can be promptly resolved after hormone substitution.
Although the exact pathogenesis of central pontine myelinolysis (CPM) is unknown, correction of hyponatremia, thyreotropin releasing hormone, plasmapheresis, and corticosteroids seem to be effective. Assuming intravenous immunoglobulins (IVIG) to also be effective in CPM, 0.4 g/kg body weight/d immunoglobulins were applied to a 48-year-old patient who developed CPM with double vision, dysarthria, dysphagia, and left-sided hemiparesis 3 weeks after spontaneous normalization of hyponatremia. After 5 days of IVIG, his symptoms markedly improved, confirmed by improvement in the Norris score (42%), Frenchay score (19%), Kurtzke score (20%), Disability score (54%), vital capacity (26%), and peak torque (69%). The promising clinical effect of IVIG was assumed to be caused by the reduction of myelinotoxic substances, the development of antimyelin antibodies, and the promotion of remyelination. In conclusion, IVIG appear to be a promising therapeutic option in CPM.