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Biomedical subjects

M Manfredi

Publications and source records attributed to M Manfredi.

At least 55 records · Page 3Linked to original sources
PubMed2001

EEG discharges on awakening: a marker of idiopathic generalized epilepsy.

In a series of 24-hour ambulatory EEG recordings from 1,000 consecutive adult outpatients (44.5% with generalized and 55.5% with partial epilepsy, one recording per patient), the authors found only 46 (4.6%) activations of epileptiform discharges on awakening. All recordings came from patients with idiopathic generalized epilepsy, predominantly with juvenile myoclonic epilepsy and generalized tonic-clonic seizures on awakening. Multiple spike discharges that develop with an unusually delayed onset after arousal (more than 10 minutes) might help to discriminate juvenile myoclonic epilepsy.

Adult↗
PubMed2001

Spinal dysraphism in an elderly patient.

Spinal dysraphisms are diagnosed more frequently at birth or in infancy. We report a spinal malformation compatible with lipomyeloschisis in an elderly patient presenting with symptoms and signs of myelopathy. Magnetic resonance imaging revealed an intraspinal mass continuous with a subcutaneous lipoma. Three-dimensional computed tomography reconstructions better showed the spinal dysraphism; dermal sinus was also evident. Neuroimaging can define the precise diagnosis also in elderly patients presenting with myelopathy and can provide valuable structural details.

Aged↗
PubMed2001

The prolonged cortical silent period in patients with Huntington's disease.

OBJECTIVES: In a group of patients with Huntington's disease and age-matched controls, we studied the cortical silent period (SP) elicited by single transcranial magnetic stimulation (TMS) pulses. METHODS: We measured the area of the pre-stimulus electromyographic (EMG) activity, the area of the motor evoked potentials (MEPs) and the duration of the SP induced by stimuli delivered at an intensity of 150% of motor threshold with a round coil placed over the vertex. We determined the cortical SP by sampling only the 5 traces containing the shortest SPs and by collecting 10 consecutive unselected traces without selecting trials. RESULTS: Patients and controls had normal EMG background areas, and MEP latencies and areas. Whereas data measured from selected trials gave a normal duration of the SP (patients, 154+/-58 ms; controls, 166+/-22 ms), data from unselected trials yielded a significantly longer SP duration in patients than in controls (356+/-251 vs. 159+/-44 ms) and also a larger variance and range. CONCLUSIONS: We conclude that in Huntington's disease, an abnormal cortical SP is best sought by collecting unselected consecutive traces. We suggest that the prolonged SP in HD originates from a dysfunction of the mechanisms controlling the restart of voluntary movement after TMS.

Adult↗
PubMed2001

Bladder filling inhibits somatic spinal motoneurones.

OBJECTIVES: Despite evidence that the activation of visceral afferents modulates spinal motoneurone activity in humans the responsible circuits remain unclear. We investigated changes in spinal motoneurone excitability during bladder filling in 8 healthy subjects and in 8 patients with spinal cord lesions and 5 patients with multi-infarct encephalopathy. METHODS: Spinal motoneurone excitability was studied by analysing changes in H-reflex, F-wave and motor-evoked potential (MEP) size recorded from the calf muscles under different bladder filling conditions. RESULT: In normal subjects, maximal bladder filling significantly suppressed the H-reflex, F-wave and MEPs; after bladder voiding these responses returned to normal. In patients with encephalopathy maximal bladder filling strongly reduced H-reflex size; similarly to normal subjects H-reflex returned to control value after bladder voiding. In patients with spinal cord lesions, activation of bladder afferents left the H-reflex unchanged. CONCLUSIONS: These findings indicate that bladder distension induces post-synaptic inhibition of spinal motoneurones through a suprasegmental pathway, which is interrupted by rostral spinal cord lesions. This vesical-induced inhibition is probably mediated by the propriospinal system rather than by the diffuse noxious inhibitory control circuit.

Adult↗
PubMed2001

A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

Chorea-acanthocytosis (CHAC, MIM 200150) is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology (acanthocytosis). Neurological findings closely resemble those observed in Huntington disease. We identified a gene in the CHAC critical region and found 16 different mutations in individuals with chorea-acanthocytosis. CHAC encodes an evolutionarily conserved protein that is probably involved in protein sorting.

Alternative Splicing↗
PubMed2001

Antibiotic resistance and antibiotic sensitivity based treatment in Helicobacter pylori infection: advantages and outcome.

AIMS: To compare two strategies for the eradication of Helicobacter pylori infection. METHODS: Groups 1 and 2 each consisted of 75 consecutive patients. Patients in group 1 were treated with two antibiotics based on antibiotic susceptibility testing; those in group 2 received amoxycillin and clarithromycin for eight days, together with either ranitidine or omeprazole. Eradication rate was assessed in both groups six months after treatment. RESULTS: In group 1, H pylori grew in culture in 63/75 cases. Susceptibility testing showed that 35/63 isolates were resistant to metronidazole, 10/63 to clarithromycin, 2/63 to ampicillin, 1/63 to tetracycline, and 5/63 to both clarithromycin and metronidazole. In group 1 the infection was eradicated in 96% of the initial 75 subjects, and in 98% of the subjects treated according to the antibiotic assay (62/63). As two patients were lost at follow up the overall eradication rate was 99%. In group 2, eradication was achieved in 61/75 subjects (81%). This was significantly lower than the percentage of eradication observed in group 1 (81% versus 99%). CONCLUSIONS: Antibiotic susceptibility tests are useful in childhood as a very high percentage of subjects are cured. This approach is costly, but selective antibiotic treatment contributes to limit further development of antibiotic resistance, and money is saved in terms of reinvestigation and further repeated treatments.

Adolescent↗
PubMed2001

Usefulness of dorsal laser evoked potentials in patients with spinal cord damage: report of two cases.

Stimulation of the dorsal skin with brief laser impulses easily evokes brain potentials (laser evoked potentials, LEPs). Dorsal LEPs were first used to study the conduction velocity in the human spinothalamic tract. In this study the diagnostic usefulness of this technique was assessed by recording dorsal LEPs in two patients with focal spinal cord lesions (one intrinsic and the other extrinsic) and spared lemniscal sensitivities. In both cases, the brain evoked potentials were normal after stimulation of the metamers above the lesion but absent after stimulation of those below. Dorsal LEP recordings may prove a useful tool in localising lesions and in the neurophysiological assessment of focal spinal cord lesions involving the anterolateral quadrants of the spinal cord.

Aged↗
PubMed2000

Impaired EMG inhibition elicited by tendon stimulation in dystonia.

OBJECTIVE: to test the effects of tendon stimulation on isometric voluntary contraction. METHODS: Twenty patients with dystonia (12 patients with generalized and eight with task-specific dystonia) and 10 normal healthy subjects participated in the study. The tendon of the extensor carpi radialis muscle was stimulated with electrical stimuli at the wrist, and the electromyogram (EMG) signal was recorded during an isometric voluntary contraction. RESULTS: In normal subjects, tendon stimulation elicited an excitatory phase (TE1), followed by a pronounced inhibitory phase (TI1) and a second excitatory phase (TE2). The three phases had similar perceptive thresholds, latencies, and durations in patients and control subjects. In patients with generalized dystonia, the TI1 area exceeded the control values (controls [mean +/- SE], 40.3 +/- 5.4; patients, 66.9 +/- 5.5; p = 0.0048, Mann-Whitney U: test). In the patients with task-specific dystonia, the TI1 area was similar to control values (controls [mean +/- SE], 40.3 +/- 5.4; patients, 54.2 +/- 4.8; p = 0.7396, Mann-Whitney U: test). CONCLUSIONS: The EMG suppression (TI1) after tendon stimulation is reduced in generalized dystonia, indicating a decreased group III-elicited presynaptic inhibition of Ia fibers. The impaired group III presynaptic inhibitory action from tendon afferents could contribute to the motor abnormalities present in dystonia. Dystonia causes widespread dysfunction of presynaptic inhibitory mechanisms in the spinal cord, involving Group I and III afferents.

Adult↗
PubMed2000

Conduction velocity of the human spinothalamic tract as assessed by laser evoked potentials.

To study the conduction velocity of the spinothalamic tract (STT) we delivered CO2 laser pulses, evoking pinprick sensations, to the skin overlying the vertebral spinous processes at different spinal levels from C5 to T10 and recorded evoked potentials (LEPs) in 15 healthy human subjects. These stimuli yielded large-amplitude vertex potentials consisting of a negative wave at a peak latency of about 200 ms followed by a positive wave at a peak latency of about 300 ms. The mean conduction velocity of the STT was 21 m/s, i.e. higher than the reported velocity of the corresponding primary sensory neurons (type II AMH). Because dorsal stimulation readily yields reproducible brain LEPs, we expect this technique to be useful as a diagnostic tool for assessing the level of spinal cord lesions.

Adult↗
PubMed2000

Topographical distribution of pinprick and warmth thresholds to CO2 laser stimulation on the human skin.

We studied the topographical distribution of laser sensory thresholds on the human hairy skin, using a small laser beam for pinprick and a large beam for warmth sensations. The threshold for pinprick sensation correlated positively with the distance from the brain, suggesting that Adelta nociceptors, the fibers which convey pinprick sensation, are more dense at proximal than at distal body sites. This finding adds information to skin biopsy studies of epidermal free nerve endings which showed a similar gradient, but could not differentiate small myelinated from unmyelinated fiber afferents. Possibly because of a diffuse low density of warmth receptors, laser warmth thresholds showed no trend.

Adult↗
PubMed2000

Shortened cortical silent period in facial muscles of patients with cranial dystonia.

OBJECTIVE: To study the cortical silent period (SP) in the orbicularis oculi and perioral muscles in 23 patients with cranial dystonia and 10 age-matched control subjects. METHODS: High-intensity magnetic stimuli were delivered with a round coil centered at the vertex during a maximal muscle contraction. Electromyographic (EMG) responses were recorded from surface electrodes placed over the orbicularis oculi and perioral muscles. RESULTS: SPs elicited in upper and lower facial muscles had a similar duration. Facial muscle SPs were significantly shorter in patients than in control subjects. Patients with blepharospasm plus oromandibular dystonia had shorter SPs than patients with blepharospasm alone. Although patients' recordings showed reduced voluntary and evoked EMG activity, neither activities correlated with the duration of the SP. CONCLUSIONS: Silent period (SP) shortening depends neither on the level of electromyographic activity nor on segmentary mechanisms. The shortened SP in facial muscles reflects hypoexcitability of cortical inhibitory neurons in cranial dystonia.

Adult↗
PubMed2000

Ia presynaptic inhibition after muscle twitch in the arm.

Contraction of upper limb muscles in healthy subjects was used to investigate presynaptic inhibition at spinal level. The H reflex recorded in the forearm flexor muscles in response to median nerve stimulation was depressed in amplitude from 400 ms to 1 s after a muscle twitch induced by transcranial stimulation, root stimulation, direct biceps stimulation, and triceps tendon tap. Stimulation of the cutaneous branch of musculocutaneous nerve, ipsilateral triceps and contralateral biceps, and biceps tendon tap did not alter H-reflex size. Forearm flexor H-reflex amplitude is therefore related to changes in proprioceptive inflow secondary to the biceps muscle twitch. Root and direct muscle stimulation both failed to reduce the size of the motor evoked potential (MEP) after transcranial magnetic stimulation, suggesting that the inhibition acts at presynaptic level. Attenuation of H-reflex amplitude was related to the size of the muscle twitch and was less pronounced during an isometric twitch than during free joint movement. Our results suggest that the biceps muscle twitch produces long-lasting inhibition of the Ia afferents from forearm flexor muscles. This is an important and a simple mechanism for suppressing proprioceptive input during movement.

Adult↗
PubMed2000

Movement cueing and motor execution in patients with dystonia: a kinematic study.

To investigate whether the type of movement cueing influences motor performance in patients with dystonia, we studied externally triggered (ET) and self-initiated (SI) sequential rapid arm movements in patients with generalized or focal dystonia and healthy control subjects. The ET task required subjects to initiate movements in response to consecutive visual cues; the SI task allowed them to start at will. To determine whether patients found sequential motor tasks more difficult than single tasks, we also analyzed single ET movements. Control subjects performed the SI task significantly faster than the ET task. Their single ET movements and first ET sequential submovements had similar speeds. Patients with generalized dystonia were slow in performing the single movement, the ET and the SI sequential tasks, and they executed the SI sequence more slowly than the ET. They made long pauses between SI sequential submovements, had longer reaction times during the ET sequences, and performed the first ET submovement more slowly than the single ET movement. Patients with focal dystonia had normal reaction times but they performed single and sequential tasks slowly, made long pauses during SI tasks, and also executed the first ET submovement more slowly than the single ET movement. Our findings indicate that patients with dystonia have a general impairment of sequential movements. The more marked slowness in executing SI than ET movements observed in patients with generalized dystonia shows that dystonia impairs internal cueing more than external cueing mechanisms. Overall, these findings imply abnormal activation of primary and nonprimary motor areas during movement in dystonia. The greater impairment of SI tasks as well as the delayed motor responses during ET task suggest predominant underactivity of the supplementary motor area.

Adolescent↗
PubMed2000

Spinal and cortical inhibition in Huntington's chorea.

In this article we studied spinal and cortical inhibitory mechanisms in patients with Huntington's disease. To evaluate spinal cord inhibitory circuitries, we assessed reciprocal inhibition between antagonist forearm muscles and the recovery cycle of the H reflex in the flexor carpi radialis. Patients showed a significant decrease in the presynaptic phase of reciprocal inhibition reaching a minimum at the conditioning-test interval of 20 msec and an abnormal facilitation of the test H reflex at the conditioning test interval of 40 to 60 msec. Throughout its time course (10-200 msec), the H reflex recovery cycle showed a more prominent facilitation in patients than in control subjects. To assess whether the observed pathophysiological abnormalities might have arisen from an abnormal motor cortical excitability, we examined the recovery cycle of the motor potentials evoked by paired transcranial magnetic stimuli. We found that the inhibitory mechanisms controlling motor cortical excitability were normal. An interpretation of the spinal cord abnormalities is that the intrinsically normal but deafferentated motor cortex in Huntington's disease partly loses its inhibitory control, thus disinhibiting spinal cord circuitry. Our findings from paired transcranial magnetic stimulation suggest that cortical motor areas are not hyperexcitable in Huntington's disease. Hence, the postulated thalamocortical overactivity in experimental models of Huntington's disease needs to be reappraised.

Adult↗
PubMed2000

Changes in the cortical silent period after repetitive magnetic stimulation of cortical motor areas.

The physiological mechanisms underlying the lengthening of the silent period (SP) evoked in active upper limb muscles by repetitive transcranial magnetic stimulation (rTMS) of the motor areas were studied in normal subjects. rTMS was delivered at frequencies of 1 Hz, 2 Hz, 3 Hz, 5 Hz, 10 Hz and 15 Hz and at an intensity just above the motor threshold (Mth). Trains delivered at 2 Hz, 3 Hz, 5 Hz, 10 Hz and 15 Hz significantly prolonged the cortical SP, whereas stimuli at 1 Hz did not. The first few stimuli in the train already prolonged the duration of the cortical SP: the other stimuli did not prolong it further. Motor evoked potentials remained unchanged in amplitude regardless of the frequencies and number of stimuli in the train. The effect of intensity of stimulation was studied by delivering trains at suprathreshold intensity (110% and 140% of Mth) and 3-Hz frequency and with trains at subthreshold intensity and 5-Hz and 10-Hz frequencies. SPs had a longer duration at 140% than at 110% Mth intensity. SPs elicited by 3-Hz trains at 140% and 110% Mth intensity lengthened to a similar extent over the course of the train. rTMS delivered at an intensity below Mth did not evoke cortical SPs over the course of the trains. Repetitive stimulation of the cortical forearm motor areas prolonged the duration of the cortical SP in forearm flexor muscles but failed to evoke SPs in the biceps muscles. The maximal single stimulus intensity and less intense stimuli delivered in short trains evoked SPs of similar duration. We propose that rTMS delivered in trains at frequencies higher than 1 Hz and at suprathreshold intensity prolongs the cortical SP mainly through temporal summation of inhibitory interneurones.

Adult↗
PubMed2000

Sub-movement cueing and motor sequence execution in patients with Huntington's disease.

OBJECTIVES: We investigated whether the type of sub-movement cueing during the execution of motor sequences influences the movement time in patients with Huntington's disease. METHODS: The kinematic variables of rapid sequential free arm movements executed with different types of sub-movement cueing - externally-triggered (ET) and self-initiated (SI) tasks - were analyzed in 7 patients and 7 healthy controls. The ET task required subjects to initiate movements in response to consecutive visual go signals; the SI task allowed them to start at will. RESULTS: HD patients performed ET and SI tasks slower than normal subjects. Both groups executed ET sequences slower than SI, but movement times for the two tasks differed less in patients than in controls. Patients paused normally between sub-movements during the SI task, but they had slower reaction times for all the sub-movements of the ET task. CONCLUSIONS: Slower execution of both motor tasks indicates that HD patients are bradykinetic in performing sequential free arm movements. Our finding that total movement times for SI and ET tasks differ less in patients than in controls suggests that HD impairs internal more than external cueing mechanisms.

Adult↗