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Biomedical subjects

F Cirignotta

Publications and source records attributed to F Cirignotta.

At least 19 recordsLinked to original sources

Dystonic attacks related to sleep and exercise.

Two unrelated children displayed attacks of paroxysmal jerky 'puppet-like' movements lasting 2-3 min. The attacks were not kinesigenic and occurred during wakefulness precipitated by physical exercise and during NREM sleep, spontaneous or upon arousal and awakenings. Paroxysmal dystonic choreoathetosis was excluded by the absent family history, and paroxysmal kinesigenic dystonia by the absence of triggering effects by sudden movements and efficacy of anticonvulsants. Pattern and duration of involuntary movements were not those typical of nocturnal paroxysmal dystonia. Our cases emphasize that overlap exists among the different clinical categories of paroxysmal dyskinesia.

Arousal

Atrial natriuretic peptide and catecholamines in obstructive sleep apnea syndrome.

Nocturnal polyuria with repeated micturitions during the night is a clinically evident feature of obstructive sleep apnea syndrome (OSAS). These effects are reversed by continuous positive airway pressure (CPAP). There is some evidence that atrial natriuretic peptide (ANP) and catecholaminergic activity may be implicated in the pathogenesis of these symptoms. We studied these biochemical parameters in six patients with severe OSAS during two nights: the first (basal) in their normal conditions and the second during CPAP treatment. CPAP treatment reversed apnea episodes in all our patients. A significant (p less than 0.035) reduction of nocturnal urine volume (from 902 +/- 297 to 447 +/- 130 ml; mean +/- SD), sodium excretion (from 150 +/- 33 to 89 +/- 35 mEq/12 h), noradrenaline excretion (from 95 +/- 101 to 52 +/- 16 micrograms/g creatinine), noradrenaline plasma concentrations (from 325 +/- 96 to 259 +/- 75 pg/ml), ANP plasma concentrations (from 35 +/- 20 to 19 +/- 5 pg/ml) was observed during the night under CPAP application. These data suggest that in OSAS patients the high ANP plasma concentration is responsible for the observed elevated diuresis and sodium excretion. These effects are rapidly reversible, as they are reversed during the first CPAP treated night.

Adult

HLA complement markers in Italian narcoleptic patients with special emphasis on BfF subtyping.

Thirty narcoleptic patients (29 out of 30 of Mediterranean origin) were studied for HLA polymorphisms (only 24 were investigated for HLA class III). We found that these patients are characterized by DR2, DQW2 phenotype (p less than 0.0001) as those of Anglo-Saxon origin so far studied and by the complotype: BfS, C4A3, C4B1. Just 1 of 7 BfF patients has the Fb subtype detected by isoelectric focusing technique (p = 0.007). The only patient of Black origin (his mother is Eritrean) is completely different from other patients (DR3,5; DQW2,W3; C4A4,4; C4B1,2), supporting the hypothesis that it is not the DR2, DQW1 phenotype per se involved in this syndrome. Subdividing the subjects according to different clinical features, we cannot demonstrate genetic heterogeneity.

Adolescent

Breathing disorders in males with acquired encephalopathy.

Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tachypnea and O2 desaturation were observed only during wakefulness. The analogy of these patterns with those of genetic syndromes such as familial encephalopathy and the Rett syndrome led us to postulate the aspecificity of this finding and the importance of further studies to elucidate the role of impaired behavioural and automatic breathing system control.

Apnea

Restless legs syndrome and nocturnal myoclonus: initial clinical manifestation of familial amyloid polyneuropathy.

Restless legs syndrome was the first isolated clinical manifestation in four siblings of a family with familial amyloid polyneuropathy. Clinical and electrophysiological evidence of peripheral neuropathy appeared after a variable time interval. Polysomnography showed abnormal sleep patterns and nocturnal myoclonus in all patients. The restless legs syndrome responded favourably to clonazepam.

Aged

Paroxysmal arousals during sleep.

Six patients complained of distressing sudden awakenings with abnormal motor activity during sleep causing insomnia. Polysomnography showed paroxysmal short-lasting arousals during NREM, especially slow-wave sleep, associated with complex movements and autonomic activation. Ictal and interictal EEG never showed epileptic discharges except in 1 patient who also had a tonic-clonic seizure during sleep. Carbamazepine was the only effective medication in 2 patients. Paroxysmal arousals represent a sleep disturbance that may be related to deep epileptic foci.

Adult

Treatment of obese patients with obstructive sleep apnea syndrome (OSAS): effect of weight loss and interference of otorhinolaryngoiatric pathology.

The role of weight loss in the therapy of obstructive sleep apnea syndrome (OSAS) was investigated in 23 affected patients with various degrees of obesity (body mass index range 26.6-61.0) free of cranio-facial malformations. Weight loss resulted 18.5 +/- 14.7 (s.d.) kg and was significantly correlated with baseline BMI value (r = 0.94; P less than 0.0001). Weight loss significantly reduced the number of apneas + hypopneas per hour of sleep ((A + H)I) from 66.5 +/- 23.0 to 33.0 +/- 26.2 (P less than 0.0001) and improved the mean of oxygen desaturation peaks during apneas (mSaO2) from 81.9 +/- 6.9 to 87.6 +/- 3.9; P less than 0.001). A significant correlation was found between weight loss and changes in the (A + H)I (r = -0.55; P less than 0.01) and the mSaO2 (r = 0.46; P less than 0.05). The (A + H)I significantly improved in both patients who lost more than 10 kg (basal BMI: 42.3 +/- 10.0) and in those who lost less than 10 kg (basal BMI: 30.2 +/- 2.3), whereas the mSaO2 improved only in the former. Obese patients with moderate to heavy ORL pathological findings had worse pretreatment and final OSAS parameters than those with absent or mild ORL lesions. However, both groups showed a significant, although quantitatively different, improvement of the (A + H)I and mSaO2 after weight loss. Compared to those who were cured or improved after the treatment, patients who failed to obtain significant effects on OSAS clinical presentation also had a significantly higher prevalence of ORL pathology. It is concluded that: (1) weight loss improves parameters and clinical presentation of OSAS in the majority of affected obese patients; (2) a relationship exists between the entity of weight loss and that of improvement of the syndrome; (3) weight loss must be encouraged even in patients with mild to moderate overweight; (4) the presence of ORL pathology may represent a confusing factor in the interpretation of the results obtained after weight loss.

Adult

Cerebral anoxic attacks in sleep apnea syndrome.

In a 52-year-old man who presented with an obstructive sleep apnea (OSAS) syndrome, we observed cerebral anoxic attacks during rapid eye movement (REM) sleep. Polysomnography showed that the attacks were due to severe hypoxia provoked by apneas lasting up to 220 s. Electroencephalogram (EEG) and clinical features clearly differentiate cerebral anoxic attacks from epileptic seizures. The length of apneas in our patient is very unusual, indicating an impairment of the mechanism terminating apneas. The cause of this impairment is unknown. However, this case report documents a possible pathogenetic mechanism other than heart arrhythmias responsible for sudden death or coma arising during sleep.

Arousal

Prevalence of every night snoring and obstructive sleep apnoeas among 30-69-year-old men in Bologna, Italy.

An epidemiological survey of the prevalence of snoring and sleep apnoeas was performed on 3479 30-69-year-old men living in Bologna, north-east Italy. First a postal questionnaire was sent. It was returned with appropriate answers by 1170. A 20% random sample of those who did not answer were invited by telephone to return the questionnaire. Among these groups 119 (10%) and 19 (5.6%) respectively answered that they always snored. A random sample of 40 every-night snorers were studied by polysomnography. Based on the frequency of every-night snoring and the results of polysomnography we estimated that the minimal prevalence of sleep apnoea among 30-69-year-old men was 2.7% considering an apnoea + hypopnoea index of 10 or more pathological. According to the Lugaresi classification we had a 2.5% prevalence of heavy snorers' disease (HSD) Stage 1 or higher. These figures indicate that obstructive sleep apnoea during sleep is a major public health problem.

Adult

Pathogenic aspects of snoring and obstructive apnea syndrome.

Snoring (inspiratory noise related to narrowing of the upper airways) and obstructive sleep apnea (OSA) are two aspects of the same basic disorder: sleep-related narrowing of the upper airways. Patients with OSA have been heavy snorers for years and even decades. Lying supine induces snoring and mild OSA in heavy snorers due to hypotonia of pharyngeal dilator muscles, decreasing waking neural drive and recumbent position, which contribute to functional narrowing of the upper airways. Functional factors in obstruction during sleep include (a) respiratory instability prevalent in the male sex, (b) increased extensibility of the lax tissues surrounding the oro-pharynx and (c) deficient contraction of the pharyngeal dilator muscles during inspiration. These effects are worsened by sleep deprivation and fragmentation, alcohol intake and sedatives. Anatomical factors favoring narrowing of the upper airways in snorers and OSA patients are (a) abnormally narrow airways as well as (b) increased thickness and length of the velum palatinum in snorers and OSA patients, (c) tonsillar and adenoid hypertrophy, micro- and retrognathia, and nasal insufficiency, (d) obesity with fat infiltration of the soft tissues and in particular of the oropharynx, (e) relatively open mandibular angle, hypertrophy and thickness of the tongue, and lowered hyoid bone (as shown by MRI imaging). It is possible that many anatomical abnormalities may be the consequence of snoring and obstructive apnea. During NREM sleep the ineffective inspiratory efforts progressively increase with worsening hypoxia and hypercapnia. The upper airways become patent again when arousal induces phasic activation of the dilator pharyngeal muscles.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

Physiological hypnic myoclonus.

Physiological hypnic myoclonus (PHM) was quantified during wakefulness and sleep in 7 normal subjects. PHM was evident during relaxed wakefulness and increased during stage 1 and especially REM sleep. In some muscles, however, (e.g., soleus) it showed no increase during sleep. PHM resembled simple fasciculation potentials, or, when repeated or in clusters, the fragmentary myoclonus in NREM sleep. Both 'hypnic' and 'myoclonus' are terms inappropriate to the description of this physiological spontaneous motor activity.

Adult

Zolpidem-polysomnographic study of the effect of a new hypnotic drug in sleep apnea syndrome.

Clinical studies have shown that zolpidem, an original imidazopyridine derivative, induces and maintains sleep and does not have daytime side-effects. Polysomnography has revealed that this drug has several interesting qualities that benzodiazepines do not possess: stages 3-4 increase, stage 2 is unchanged or slightly reduced and no abnormal changes are detected on the EEG tracing. Like benzodiazepines, zolpidem slightly reduces REM sleep. The Multiple Sleep Latency Test confirmed that the drug does not cause daytime drowsiness. All the hypnotic drugs studied up to now worsen heavy snoring and obstructive sleep apnea syndrome. A controlled double blind cross-over trial assessed the effects of a single dose of zolpidem 20 mg on nocturnal breathing in patients with mild forms of sleep apnea syndrome. The results indicate that, at this dose, the drug does not overcome the existing contraindications to the use of hypnotics in this syndrome.

Humans

REM sleep behavioral disorders.

REM sleep behaviors were recently described as wild, dream-enacting behaviors during REM sleep with loss of usual atonia on submental muscles. We examined 6 patients (5 M, 1F) with characteristic episodes of behavioral manifestations during REM sleep. Polysomnographic data indicate a decrease in first REM latency, an absence of stage 4 NREM, altered phasic motor activity and behavioral episodes during REM sleep even with normal chin muscle atonia. Three patients had Shy-Drager syndrome, 1 olivopontocerebellar atrophy and 2 patients had no neurological disease. The crucial importance of a disinhibited locomotor system during sleep appears to be responsible for this REM parasomnia.

Adult

Sleep-related breathing impairment in myotonic dystrophy.

Respiratory failure has been described in myotonic dystrophy; it worsens during sleep but its central or peripheral origin has yet to be determined. Moreover, patients may present severely disturbed sleep and daytime somnolence. Eight patients with mild to moderate myotonic dystrophy were studied to assess breathing function while awake and during sleep by means of the pulmonary function tests, nocturnal polysomnographic examination and the multiple sleep latency test (MSLT). Three patients had restrictive respiratory defects; none had signs of airway obstruction. All patients had very disrupted nocturnal sleep. Of six patients who underwent the MSLT only two showed a mild tendency to sleep during the day. Six patients had pathological apnoea plus hypopnoea index [(A+H)I] and there was a prevalence of central apnoeas. The apnoeas occurred while resting but awake and throughout all sleep stages. Only two patients (the ones with the least vital capacity) had episodes of progressive oxygen desaturation during rapid eye movement sleep, similar to those found in other restrictive disorders and in chronic obstructive pulmonary disease. It is concluded that the breathing pattern characteristic of our myotonic dystrophy patients was the occurrence of central apnoeas both at rest while awake and during sleep.

Adult

Fasciculations during wakefulness and sleep.

Fasciculation potentials were quantitated during wakefulness (W) and the different sleep stages in 10 patients affected by motor neuron disease. Compared to W, no statistically significant variation was present in fasciculations during any sleep stage. Fasciculations remain unaffected by the decrease in central nervous system excitability which occurs during sleep.

Amyotrophic Lateral Sclerosis