Periodic leg movement, L-dopa, 5-hydroxytryptophan, and L-tryptophan.
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Biomedical subjects
Publications and source records attributed to S Mondini.
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Two patients complained of myoclonic jerks precipitated by writing. They had suffered only sporadic seizures triggered by reading. Laboratory assessment demonstrated that typing was the most powerful stimulus in triggering spike-wave discharges associated with myoclonic seizures. Sodium Valproate (20 mg/Kg/die) led to a complete remission of seizures in both cases.
In order to detect the dysfunction of the upper airway muscles in awake patients with obstructive sleep apnea syndrome (OSAS), we examined the effect of a chemical stimulus (CO2) on flow-volume loops obtained during tidal breathing. Six flow-volume curves during forced maneuvers and six flow-volume tracings during rebreathing of CO2 were recorded in 20 patients with OSAS. All patients had numerous obstructive apneas (mean apnea index 61 +/- SD 33, percentage of obstructive apneas 76 +/- 29) associated with moderate to severe degrees of arterial oxygen desaturation. Of the 18 patients in whom at least six flow-volume loops could be obtained during CO2 rebreathing, 13 exhibited respiratory flutter (range: grade 1 to 6) during tidal breathing in the flow-volume tracing (RF VtCO2). The greater the degree of RF VtCO2 during wakefulness, the less was the lowest oxygen saturation (LSaO2) during sleep. In fact, all four patients with RF VtCO2 score 6 had LSaO2 below 30%.
Twelve patients between 14 and 26 years of age, ten with infectious mononucleosis and two with Guillain-Barré syndrome, all of whom were suspected of having had Epstein-Barr viral infection, developed daytime sleepiness. The daytime somnolence was confirmed objectively by polygraphic monitoring seven weeks to 4 1/2 months after the onset of clinical symptoms. The patients have been followed up for three to 12 years. None has had any other neurologic sequelae, but all have disabling daytime sleepiness. Treatment brings only mild relief. A retrospective chart study of 35 patients with infectious mononucleosis did not identify, on the basis of initial clinical symptoms, those patients who developed chronic impairment.
Nineteen diabetic patients, 12 type I (insulin-dependent) and 7 type II (late-onset, non-insulin-dependent), underwent nocturnal polygraphic monitoring after a daytime medical evaluation that included tests of vagal responses and, in 6 patients, pulmonary function and hypercapnic and hypoxic responses. Five lean type I patients had abnormal sleep-related breathing patterns with central or obstructive sleep apnea and brief breathing irregularities during stages 3 to 4 non-rapid-eye-movement sleep, compared with only 1 overweight type II diabetic with moderate obstructive sleep apnea. There was no correlation between daytime ventilatory study findings and abnormal breathing patterns during sleep, but there was a clear relationship between neuropathy and sleep-related breathing abnormalities in type I insulin-dependent diabetics.
We measured serially the blood pressure of 7 normal controls and 11 Type I insulin-dependent and 6 Type II non-insulin-dependent diabetic patients during sleep. All subjects underwent 2 or 3 nights of monitoring during which blood pressure was measured with an arteriosonde, a Doppler-type system with a cuff that automatically inflates every 15 minutes. All 7 normal controls, 3 of 11 Type I, and all 6 Type II diabetic patients had normal results from bedside tests of autonomic function. The Type I patients had abnormal systolic blood pressure measurements throughout the night. Unlike normal controls and Type II diabetics, their blood pressure did not rise progressively in the early morning hours. During rapid eye movement (REM) sleep, their blood pressure measurements were significantly higher and lower than values measured during non-REM sleep, in sharp contrast to those in the other two groups, whose REM sleep-related blood pressure values were slightly above the preceding non-REM sleep measurements.
Neurologists are becoming increasingly aware of the frequency and clinical importance of sleep-related respiratory impairment. Sleep-induced narrowing of the upper airways underlies the widespread and supposedly trivial complaint of snoring, which may not only constitute a risk factor for the cardiocirculatory system, but in predisposed individuals, may lead to a sleep apnea syndrome, with its array of serious disturbances, including hypersomnia, systemic and pulmonary hypertension and ultimately heart failure. Idiopathic chronic alveolar hypoventilation, or Ondine's curse, is a fairly stereotyped clinical syndrome: sleep-related respiratory insufficiency in the absence of airways stenosis. Finally, sleep, and REM sleep in particular, significantly aggravates hypoventilation in patients with chronic obstructive pulmonary disease (COPD), kyphoscoliosis or chest musculoskeletal disorders.
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Ten nonobese, healthy elderly adults (M = 73.3 years) were monitored polygraphically during sleep for sleep state changes, breathing, and the development of cardiac arrhythmias. All participated in 2 baseline nights and 1 night of flurazepam 30 mg ingestion; six underwent 1 night of sleep deprivation; four received ethyl alcohol (.6 mg/kg); and four whose apnea worsened significantly with flurazepam 30 mg were pretreated for 3 days with acetazolamide, taking acetazolamide and flurazepam 30 mg on the fourth night. Elderly adults with an Apnea Index (the number of apneas per sleep hour) between 5 and 7 at baseline experienced a worsening of their apnea with each manipulation. Acetazolamide did not protect individuals whose Apnea Index increased after flurazepam ingestion. One person developed premature ventricular contractions in conjunction with an increased Apnea Index after each manipulation.
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Auditory stimuli induce facilitation of the H reflex during wakefulness (so-called audio-spinal influence). In 5 subjects we found that, during SWS, the same stimuli may provoke phasic losses of muscle tone and H reflex inhibition. Similar losses of tone and H reflex inhibition were related to epileptic spikes in 3 patients.
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The presence of executive deficits has been sought at a stage of Alzheimer's disease where currently used neuropsychological batteries could not yet distinguish Alzheimer's patients from normal age- and education-matched controls. This study shows that, at this early stage, those patients that 6 months later are found to show clear signs of Alzheimer's had been significantly worse than normal controls in an executive function task adapted from the Brown-Peterson procedure.
A short proper name retrieval test was found to discriminate between unselected subjects and age- and education- matched patients affected by Alzheimer's type dementia at a stage where the Mini-Mental State Examination could not detect a difference between these groups. The proper name retrieval task also compared favorably with the 3MS, a more sensitive, modified version of the MMSE. These findings suggest that proper name retrieval could be used to an advantage and become a routine component of short batteries for the early detection of Alzheimer's disease.
We studied Restless Legs Syndrome (RLS) and nocturnal myoclonus (NM) in 9 patients before and after carbamazepine treatment, to verify the correlation between improvement of RLS and modification of NM pattern during sleep. Although CBZ proved effective in the treatment of RLS, it did not modify the pattern of nocturnal myoclonus and its relationship to arousal during sleep. The efficacy of CBZ on RLS may be due to other properties of the drug rather than to the effect on nocturnal sleep: reduction of sleep latency and wakefulness after sleep onset.
A case of Ondine's curse associated with hypothalamic dysfunction in an 8-year-old boy is described. The neuropathological examination revealed a viral encephalitis affecting the hypothalamus and the brainstem. In the medulla the inflammatory process involved the reticular formation and the nuclei considered to control automatic respiration such as the dorsal motor nucleus of the vagus, the nucleus tractus solitarii and the nucleus ambiguous. Although Ondine's curse following viral infection of the central nervous system has been previously reported this represents the first case of viral encephalitis to be pathologically documentated.
Breathing is regulated by the behavioural and the automatic systems, the former mainly acting during wakefulness, the latter during sleep. Central alveolar hypoventilation and breathing disorders in Rett syndrome indicate a selective impairment of the two systems.