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Biomedical subjects

M Zucconi

Publications and source records attributed to M Zucconi.

At least 73 records · Page 4Linked to original sources

Obstructive sleep apnea in the Rubinstein-Taybi syndrome.

The Rubinstein-Taybi syndrome is characterized by a pattern of malformations including broad thumbs and big toes, microcephaly, facial dysmorphism, small stature, and mental retardation. Obstructive sleep apnea (OSA), has been described in several facial or skeletal malformations, but never in the Rubinstein-Taybi syndrome. We studied a 9-year-old boy, previously diagnosed as having the Rubinstein-Taybi syndrome and affected by severe OSA, as documented by polysomnography. He manifested the habitual and heavy snoring with breathing difficulties at night, and excessive daytime sleepiness. Short neck and obesity were important factors for the severity of the syndrome. Continuous positive airway pressure was not tolerated and weight loss was the only possible treatment, as upper airway surgery was not indicated by cephalometric, otolaryngologic or clinical results.

Cephalometry↗

Craniofacial cephalometric evaluation in habitual snorers with and without obstructive sleep apnea.

Cephalometry has been used to evaluate soft tissue and craniofacial dimensions in moderate-to-severe obstructive sleep apnea syndrome (OSA), but rarely in habitual snoring, the preclinical stage of OSA. This study deals with craniofacial bone measurements in a sample of 28 male habitual snorers with and without OSA, and 10 healthy non-snorers. Habitual snorers showed a significant decrease in sagittal dimensions of the cranial base and mandibular bone; there was also a shorter maxilla in group B (apnea plus hypopnea index more than 10) with respect to group A (apnea plus hypopnea index less or equal to 10). Facial height and angle dimensions were not different between snorers and non-snorers. These findings indicate that some habitual snorers may have some anatomic disposition to upper airway obstruction during sleep.

Adult↗

Habitual snoring as a risk factor for acute vascular disease.

We wanted to assess habitual snoring as a credible risk factor for acute vascular disease, mainly stroke and myocardial infarction. The patients selected for the study had been admitted to the hospital through the emergency department, and were evaluated by means of multidimensional interviews and clinical records: 164 had acute cerebrovascular disease, and 136 cardiovascular disease; 330 patients with nonvascular disease were the controls. The evaluation showed 48% of vascular disease patients to be habitual snorers, but only 30% of the controls; the difference was statistically significant. Compared with the controls, in the cerebrovascular patients the risk (odds ratio) associated with habitual snoring was significantly increased, and of the same order as the risk associated with age over 65 yrs, male gender, diabetes mellitus, and dyslipidaemia; whilst the risk associated with hypertension was higher. In the cardiovascular patients, the risk associated with habitual snoring was again significantly increased and of the same order as the risk associated with male gender, body mass index > 29 (kg.m-2), dyslipidaemia, heavy smoking, excessive alcohol intake and hypertension. A logistic regression analysis, entering the variables in the following order: age, gender, body mass index, diabetes, dyslipidaemia, smoking, alcohol, hypertension, and habitual snoring, showed that habitual snoring carries a significant risk factor for stroke and myocardial infarction, even after adjusting for other factors. Since habitual snoring carries a definite risk for acute vascular disease, we conclude that inquiring about it should become routine practice.

Acute Disease↗

Habitual snoring with and without obstructive sleep apnoea: the importance of cephalometric variables.

BACKGROUND: The obstructive sleep apnoea syndrome is characterised by an increased apnoea-hypopnoea index and a reduction in the minimal arterial oxygen saturation (SaO2) values during sleep. The extent to which these variables can be predicted by cephalometric and otorhinolaryngological variables was tested. METHODS: One hundred consecutive habitual snorers (84% male), with a mean (SD) age of 50.1 (10.1) years, were studied. The 45 patients with less severe sleep apnoea, with an apnoea-hypopnoea index of 10 or less (group A), were compared with the 55 with an index above 10 (group B). RESULTS: Body mass index, some cephalometric variables, and some otorhinolaryngological variables differed significantly between group A and group B, in particular the soft tissue measures PNS-P (posterior nasal spine to palate), MP-H (mandibular plane to hyoid bone), degree of oropharynx stenosis, and tongue size. In a multiple regression correlation analysis MP-H, SNB (angle from sella to nasion to subspinale point), SNA (angle from sella to nasion to supramentale point), PAS (posterior airway space), tongue size, and body mass index contributed significantly to the equation explaining the severity of sleep apnoea. Nevertheless, these variables together explained only 33% of the variance of the apnoea-hypopnoea index in the total sample; they were more important for patients with moderate to severe stages of the disease. CONCLUSION: The lack of association between cephalometric variables and mild sleep apnoea suggests that the differences in these variables (soft tissue measures) may be the consequence rather than the cause of habitual snoring and the obstructive sleep apnoea syndrome.

Adult↗

Respiration and heart rate variability during sleep in untreated Parkinson patients.

Twenty-six patients with untreated mild to moderate Parkinson's disease (PD) lasting 5 years or less, were investigated in the sleep laboratory. Sleep architecture and respiration during sleep did not significantly differ from age-matched controls. PD patients showed defective cardiac autonomic control during sleep, mainly parasympathetic but also sympathetic in nature, although they had normal results in conventional autonomic tests during wakefulness. Therefore, autonomic cardiac involvement seems to be an early sign of PD.

Aged↗

Male impotence: a possible beta-adrenergic dysfunction in some patients.

In some patients nocturnal penile tumescence (NPT) is abnormal, while the others diagnostic evaluations and medical history do not indicate any specific organic cause of impotence. Aim of this study was to evaluate heart rate variability during sleep in impotent patients with any demonstrable organic cause of impotence. We studied 50 patients: 26 were psychogenic and 24 organic on the basis of NPT and nocturnal rigidity. A lower orthosympathetic activity has been found in organic patients. Because beta-adrenergic receptors mediate relaxation of corpus cavernosum, it could be hypothesized a penile beta-adrenergic dysfunction in our organic patients.

Adult↗

Heart rate variability during sleep in snorers with and without obstructive sleep apnea.

Changes in sympathetic and vagal tone may be the substrate for the development of cardiac arrhythmias in patients with obstructive sleep apnea (OSA). The cardiovascular responses in the traditional autonomic tests show great interindividual and intraindividual variations. During sleep there are repetitive modifications of heart rate (HR) that are not influenced by psychologic factors or the patient's cooperation. For this reason, we evaluated HR modifications in relation to spontaneous body movements (BM) and sleep apneas during nonrapid eye movement (NREM) and rapid eye movement (REM) sleep in habitual snorers with normal and pathologic respiratory disturbance index (RDI). From 132 consecutive patients referred to our sleep center for habitual snoring and/or daytime somnolence, we selected 35 male patients younger than 60 years without clinical evidence of autonomic dysfunction. They were divided into three groups: group A (RDI < 10); group B (RDI > 10 and < 20); and group C (RDI > 20). No significant difference was found among the three groups in the HR variability related to BM. In the evaluation of bradytachyarrhythmias related to apneic events of 20 to 30 s, we found a significant difference between group A and the other two groups. In patients with RDI > 10, a reduced HR variability related to a reduced sympathetic tone in the post-apnea phase was observed. Some authors suggested that an HR increase during the post-apnea period can be used as an index of "brainstem arousal." Our results seem to indicate a reduced apnea-related "arousability" in patients with RDI > 10. This finding might be one of the factors contributing to the worsening of OSA.

Autonomic Nervous System↗

Early detection of skin and muscular involvement in Lafora disease.

Two siblings with Lafora disease (LD) are described: one with epilepsy, myoclonus, EEG abnormalities, severe dementia and many Lafora bodies (LBs) in muscle and skin tissue; the other with myoclonus, epilepsy, EEG abnormalities and LBs in muscle and in skin tissue, without dementia. The findings suggest that the diagnosis of LD by skin and muscular biopsy is possible in the early stage of the disease, when there are myoclonic epilepsy and EEG abnormalities, before the onset of dementia.

Adolescent↗

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↗

Diurnal variability in cranial dystonia.

Eleven patients with cranial dystonia were investigated for diurnal variations in disability by means of video recordings. Disability increased significantly from morning to evening. The increase was not related to changes in vigilance levels assessed by dynamic electroencephalogram. Cranial movement disorders display diurnal fluctuations that are probably related to endogenous circadian rhythms.

Adult↗

Cardiac autonomic dysfunction during sleep in some neurological diseases.

The most widely used tests for the investigation of the autonomic nervous system (ANS) functioning measure the heart rate (HR) variations during wakefulness. Most tests have some limitations: they require patient collaboration and can be modified by his or her emotional status. We studied HR variability in relation to body movements during sleep in some neurological diseases. Our method seems to be better than the traditional tests in detecting early cardiac ANS damage, especially when the patient is non-co-operative for ANS evaluation during wakefulness after various stimuli.

Adult↗

The thalamus participates in the regulation of the sleep-waking cycle. A clinico-pathological study in fatal familial thalamic degeneration.

Loss of slow-wave sleep (SWS) and abnormal REM sleep behaviour were associated with a lack of vegetative and endocrine circadian rhythms in a patient with fatal familial thalamic degeneration. Physiological EEG patterns of SWS (spindles, K complexes, delta activity) were absent. EEG fast rhythms could not be induced by barbiturate or benzodiazepine administration. RO 15-1788, a benzodiazepine antagonist, induced arousal and awakened the patient from coma. Pathological findings were severe neuronal loss restricted to the anterior and dorso-medial thalamic nuclei. The clinical and electrophysiological data, together with the pathological correlates, emphasize the role played by the thalamus in the regulation of the sleep-waking and other circadian cycles.

Circadian Rhythm↗

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↗

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↗