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Biomedical subjects

M Zucconi

Publications and source records attributed to M Zucconi.

At least 19 recordsLinked to original sources
PubMed2003

Cognitive dysfunction in patients with obstructive sleep apnea (OSA): partial reversibility after continuous positive airway pressure (CPAP).

The aims of this study were to assess cognitive function in obstructive sleep apnea (OSA) patients and to evaluate the effect of short- and long-term treatment with continuous positive airway pressure treatment (CPAP). A battery of neuropsychological tests, the Epworth Sleepiness Scale (ESS), and the Beck Inventory Scale were administered to 23 patients with severe OSA (age: 56.5+/-6.13; AHI: 54.9+/-13.37) and to 23 age- and education-matched controls. The OSA patients were evaluated in a baseline condition and in two follow-up treatment sessions (after 15 days and 4 months of CPAP, respectively). At baseline, OSA patients had a significant impairment, compared to controls, in tests of sustained attention, visuospatial learning, executive function, motor performance, and constructional abilities. The longitudinal evaluation showed that after a 15-days CPAP treatment attentive, visuospatial learning, and motor performances returned to normal levels. A 4-months CPAP treatment did not result in any further improvement in cognitive tests. Performance on tests evaluating executive functions and constructional abilities was not affected by short- and long-term treatment with CPAP. The findings of this study confirm the hypothesis of partial reversibility of cognitive dysfunction in OSA patients after CPAP.

Attention↗
PubMed2003

The assessment of daytime sleep propensity: a comparison between the Epworth Sleepiness Scale and a newly developed Resistance to Sleepiness Scale.

INTRODUCTION: The Epworth sleepiness scale (ESS) is widely used as a way of measuring subjective sleep propensity in research and clinical practice. Psychometric studies do not rule out the presence of more than one latent dimension underlying the items. OBJECTIVE: Aims of the present study were to: (a) evaluate psychometric proprieties of the ESS by means of classic psychometric techniques; (b) compare them with those from a newly developed resistance to sleepiness scale (RSS); (c) evaluate, following the latent trait theory, whether the items of both ESS and RSS could be conceptualized as different levels of an interval variable representative of a single latent trait related to sleep propensity. METHODS: One hundred and forty-six inpatients suffering from different sleep disorders filled in both the RSS and ESS in a sleep disorder centre. RESULTS: Indexes of fit derived by the application of the extended logistic model are consistent with the idea that each ESS item can be conceptualized as different levels of an interval variable representative of a single latent trait. However, most of the ESS items are found to be located at the opposite extremes of this continuum. CONCLUSIONS: The under representation of situations characterized by an intermediate soporific nature in the ESS could limit ESS sensitivity to detect intermediate variations of sleep propensity.

Adolescent↗
PubMed2001

Heart rate changes during sleep in response to experimental thermal (nociceptive) stimulations in healthy subjects.

OBJECTIVE: During wakefulness, nociceptive thermal stimulation can trigger a rapid and transient rise in heart rate (HR). During sleep, HR variations are different across sleep stages; HR is more variable in stage 2 and in REM than in stages 3 and 4. The aim of this study was to assess the HR response to experimental thermal stimulation during different sleep stages. METHODS: Eight young subjects free of sleep and pain problems, underwent a night of polysomnographic recording during which experimental thermal stimulations were applied. During all sleep stages (St), a series of cold, warm/control and heat pain stimulations were applied over the shoulder skin by means of a water-driven system. Variation of HR interval was measured for 6 s before and for 6 s during the thermal stimulation. RESULTS: In comparison to control warm stimulation, experimental nociceptive thermal stimulation induced a significant rise in HR during sleep; HR increased by 7% in St 2, 5.4% in St 3&4, and by 4.3% in REM sleep. CONCLUSION: The brief increase in cardiac activity with experimental nociceptive stimulation suggests that during sleep, the autonomic-cardiac nervous system remains reactive to external sensory inputs and is part of the physiological response to preserve body safety and sleep integrity in the face of potentially harmful stimulation.

Adult↗
PubMed2001

Sleep disorders in children with neurologic diseases.

Pediatric neurologic diseases are often associated with different kinds of sleep disruption (mainly insomnia, less frequently hypersomnia or parasomnias). Due to the key-role of sleep for development, the effort to ameliorate sleep patterns in these children could have important prognostic benefits. Study of sleep architecture and organization in neurologic disorders could lead to a better comprehension of the pathogenesis and a better treatment of the disorders. This article focuses on the following specific neurologic diseases: nocturnal frontal lobe epilepsy and abnormal motor behaviors of epileptic origin, evaluating differential diagnosis with parasomnias; achondroplasia, confirming the crucial role of craniofacial deformity in determining sleep-disordered breathing; neuromuscular diseases, mainly Duchenne's muscular dystrophy and myotonic dystrophy; cerebral palsy, evaluating either the features of sleep architecture and the importance of the respiratory problems associated; headaches, confirming the strict relationships with sleep in terms of neurochemical and neurobehavioral substrates; and finally a review on the effectiveness of melatonin for sleep problems in children with neurologic syndromes and mental retardation, blindness, and epilepsy.

Anticonvulsants↗
PubMed2001

Benign parasomnias and nocturnal frontal epilepsy: differential diagnosis in a case report.

We report the case of a 13-year-old boy who complained of complex motor episodes during sleep characterized by sudden arousal followed by deambulation associated with automatic movements and vocalization. His family history included both epileptic and psychiatric disorders. The patient himself presented psychopathologic traits and adaptive difficulties. In support of an epileptic origin of these phenomena were the stereotyped fashion in which they appeared and their responsiveness to carbamazepine. We classified the present case as a nocturnal frontal epilepsy with variable manifestations that can be classified as paroxysmal arousals, paroxysmal dystonia, and epileptic nocturnal wanderings. It was possible to differentiate such events from the most common parasomnias on the basis of videopolysomnographic studies.

Adolescent↗
PubMed2000

Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE.

The chromosome 15q24 region, containing the CHRNA3/A5/B4 gene cluster, coding for the alpha3, alpha5 and beta4 subunits of neuronal nicotinic acetylcholine receptors, has been reported to be linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in one family. However, nor the gene nor the mutation involved have been identified. We report the refined mapping of CHRNA3/A5/B4 cluster. Segregation analyses of CHRNA3/A5/B4 polymorphisms in families showing recombinations for 15q24 G¿en¿ethon STR markers allowed to position the cluster in a 0.6 cM interval, between STRs D15S1027 and D15S1005. This location is external to the 15q24-ADNFLE-linked region, therefore excluding the involvement of this cluster in the pathogenesis of ADNFLE in the 15q24-linked family. Moreover, these data provide more precise information for further linkage studies.

Chromosome Mapping↗
PubMed2000

Magnetization transfer and diffusion-weighted imaging in nocturnal frontal lobe epilepsy.

The authors assessed the presence of brain abnormalities in 21 patients with nocturnal frontal lobe epilepsy (NFLE), using magnetization transfer ratio (MTR) and mean diffusivity (;D) histograms. Compared with healthy volunteers and patients with idiopathic generalized epilepsy, patients with NFLE had lower MTR (p = 0.002 and 0.01) and;D (p = 0.03 and 0.04) histogram peak heights. Subtle and widespread abnormalities related to intra- and extracellular distribution and motion of water are detectable in the brains of patients with NFLE.

Adolescent↗
PubMed2000

A new biallelic polymorphism in intron 1 of the CHRNA4 gene may cause erroneous genotyping of a closely linked CA repeat marker.

A new polymorphism in intron 1 of the neuronal nicotinic acetylcholine receptor alpha 4 subunit gene (CHRNA4) was identified. It consists of a G to T substitution located in the downstream flanking region of a previously reported CA repeat marker. This polymorphism whose frequency is about six percent in a control population occurs near the 3' end of the reverse primer generally used to type the CA repeat marker. Data are presented showing that the newly identified polymorphism causes erroneous genotyping of the CA repeat marker which can alter the results of linkage analysis for CHRNA4. The use of a different reverse primer located 34 nt downstream of the published sequence overcame errors in genotyping and identified two novel alleles of the CA repeat marker. Re-typing of the marker with the new proposed primer pair in a Caucasian control population of 107 unrelated individuals was also performed

Alleles↗
PubMed2000

Sleep arousal response to experimental thermal stimulation during sleep in human subjects free of pain and sleep problems.

Although the interaction between sleep and pain is generating considerable interest (NIH Technology Assessment Panel, 1996), it is still unknown if chronic pain is the cause or effect of poor sleep. To further this understanding, subjects free of pain and sleep problems need to be studied in order to assess their response to pain during sleep, defined as a behavioral and a physiological state in which sensory processing is altered. (For example, while auditory perception remains active, other sensory inputs are facilitated, attenuated, or suppressed (Velluti, 199746 degrees C) was statistically greater in the lighter sleep stage 2 (48.3%) than in the deeper stages 3&4 (27.9%). A nocifensive behavioral-motor response was associated with only 2.5% of the 351 heat pain stimuli. Two other markers of sleep quality-sleep stage shift and awakening-were not influenced by the thermal stimuli. None of the subjects demonstrated any burns in the morning following the thermal stimulations applied during sleep. We conclude that the processing of nociceptive inputs is attenuated across sleep stages.

Adult↗
PubMed2000

NREM parasomnias: arousal disorders and differentiation from nocturnal frontal lobe epilepsy.

Parasomnias emerging from NREM sleep such as sleep walking, sleep terrors and confusional arousals are considered arousal disorders. Nocturnal video-polysomnography is the gold standard to diagnosing and differentiating parasomnias from other arousals with atypical motor behaviors such as nocturnal frontal lobe epilepsy (NFLE). This form of nocturnal seizures with prominent dystonic-dyskinetic components, in some cases genetic, has been recently identified by means of detailed video-analysis of movements during sleep. The clinical picture of parasomnias (with onset in early childhood, rare episodes of long duration, absence of stereotypy, general disappearance after puberty) is different from that of NFLE (which first occurs between the age of 10 and 20, manifests frequent complex and repetitive behaviors of short duration excluding rare prolonged seizures, nocturnal agitation, some daytime complaints such as fatigue or sleepiness, persistence into adulthood). Patients show no difference from classical sleep parameters whilst microstructure analysis shows sleep instability and arousal fluctuations in parasomnias and NFLE. In children as well, at least in our experience, the differential diagnosis between the two disorders is difficult and requires one or more complete nocturnal video-polygraphic recording. In any case the diagnosis of NFLE should be considered in children with nocturnal motor episodes or nocturnal motor agitation, when the attacks persist; this diagnosis is probably more frequent than expected.

Child↗
PubMed2000

REM sleep behavior disorder.

REM sleep is the stage associated with vivid dream mentation, desynchronous cortical EEG, and atonia of antigravitary muscles. REM sleep behavior disorder (RBD) is characterized by the intermittent loss of REM sleep atonia and by the appearance of elaborate motor activity associated with dream mentation. The animal model of REM sleep without atonia indicates that lesions to the perilocus coeruleus disrupt the excitatory connection to the nucleus reticularis magnocellularis in the descending medullary reticular formation and disable the hyperpolarization of the alpha spinal motoneurons. Extensive neurologic evaluations in humans suffering from both idiopathic and symptomatic forms have not identified specific lesions; however, findings in some patients suggest that diffuse lesions of the hemispheres, bilateral thalamic abnormalities, or primary brain-stem lesions may result in the RBD. Symptomatic RBD cases are associated with several neurologic disorders such as dementia, cerebrovascular diseases, multiple sclerosis, brain-stem neoplasm. RBD has been often documented to precede or to co-occur with neurodegenerative disorders, such as dementia, Parkinson's disease and multiple system atrophy. Most importantly, RBD is readily diagnosable and treatable. Patients and their bed partners usually report immediate improvement in sleep-related motor behavior with small doses of clonazepam.

Brain↗
PubMed2000

The impact of cyclic alternating pattern on heart rate variability during sleep in healthy young adults.

OBJECTIVE: Cyclic alternating pattern (CAP) consists of arousal-related phasic events while the complementary condition, non-CAP (NCAP), is characterized by a rhythmic background activity, reflecting a condition of stable arousal, during non-REM sleep. The arousal swings that accompany the appearance of CAP on the EEG are associated with transient variations of muscle tone and autonomic activities, including heart rate (HR). The aim of our study was to evaluate HR variability in relation to CAP during non-REM sleep in healthy adults. METHODS: Ten healthy subjects (mean age = 28.1 years) underwent 8 h polysomnography. HR variations were measured by power spectrum analysis. The ECG signals were segmented in correspondence of the different sleep stages and different CAP conditions. RESULTS: A significant difference between CAP and NCAP conditions was found in low frequency (LF) component (increased in CAP) and high frequency (HF) component (decreased in CAP). LF/HF ratio was increased in CAP. CONCLUSION: Physiological fluctuations of the EEG arousal level influence cardiac autonomic activity in normal subjects. The studies on nocturnal variation in sympathetic and vagal tone should take in account the microstructural sleep changes, other than the conventional polysomnographic parameters.

Activity Cycles↗
PubMed2000

The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy.

The electroclinical features of autosomal dominant nocturnal frontal lobe epilepsy have been recently described. Although some patients reported a poor quality of sleep, daytime tiredness, and sleepiness, their sleep macrostructure appeared to be indistinguishable from those of the control group. The aim of this study was to evaluate the macro- and microstructure of sleep in a sample of autosomal dominant nocturnal frontal lobe epilepsy patients, diagnosed by videopolysomnography. The authors selected 16 patients, 8 with daytime complaints (morning tiredness and/or excessive sleepiness) (group 1) and 8 without those complaints (group 2). The classical macrostructure of sleep and the microstructure, according to the cyclic alternating pattern (CAP) scoring rules, were compared with another group of 8 healthy controls. In group 1 the motor attacks during sleep took place more frequently during CAP and were significantly related to phase A of the CAP cycle in comparison to group 2 (P = 0.04). Group 2 had a sleep microstructure similar to the controls, whereas group 1 showed higher CAP/nonrapid eye movement sleep (CAP rate) and a higher number of CAP cycles with respect to controls (P = 0.012 and P = 0.001) and to group 2 (P = 0.05 and P = 0.04). The analysis of sleep microstructure showed an increase in sleep instability in patients with autosomal dominant nocturnal frontal lobe epilepsy and daytime sleep complaints and indicated the relationship between sleep fragmentation, nocturnal motor seizures, and daytime symptoms.

Adolescent↗
PubMed1999

Snoring & sleep apnea: a population study in Italian women.

The aim of this cross-sectional study was to evaluate the prevalence of sleep-disordered breathing by means of a validated portable instrument (MESAM IV) and to investigate the relationship between snoring and sleep apnea in a sample of Italian middle-aged female population. We randomly chose 750 subjects aged 40 to 65 years and 365 agreed to participate to the study. In this group, 19.7% of subjects were every-night snorers according to the questionnaire; when recorded, 54.2% snored for more than 10% of the night, and 7.1% for more than 50% of the night. Sleep apnea was also common: 10.7% of subjects had a respiratory disturbances per hour (RDI) between 5 and 9, 7.7% an RDI between 10 and 19, and 2.2% had an RDI > or =20. Snoring percentage and RDI were significantly correlated. However, 50% of subjects who snored for more than half the night had no evidence of sleep apnea. Snoring amount >50% resulted influenced by body mass index, while RDI>10 was influenced by neck diameter. We concluded that in middle-aged women, both snoring and sleep apnea are very common. A high percentage of snoring is not essential for the occurrence of sleep apnea, nor it necessarily indicates the presence of sleep apnea.

Adult↗
PubMed1999

SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population.

41 patients (19 sporadic and 22 familial) affected by autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) were analyzed for the presence of two mutations (Ser252Phe, 776ins3) in the CHRNA4 gene, reported to be associated with this disease. Electroclinical findings of sporadic forms were indistinguishable from familial ones. In none of the patients, these mutations were found by dot blot analysis with allele specific oligonucleotides. These data, obtained on the largest group so far studied, suggest the rarity of the reported mutations.

Adolescent↗
PubMed1999

Craniofacial modifications in children with habitual snoring and obstructive sleep apnoea: a case-control study.

Habitual snoring and obstructive sleep apnoea in children, which are frequently associated with adenotonsillar hypertrophy, may begin early in life and in relation with orocraniofacial features. The aim of this study was to detect the presence of early bone craniofacial modifications in young children with a long history of habitual snoring. Twenty-six habitually snoring children (mean age 4.6 yrs) were studied by nocturnal portable recording or diurnal polysomnography, cephalometry and orthodontic evaluation. A comparison of cephalometric findings was made between the studied group and 26 age-matched children (mean age 5.1 yrs) with no history of snoring or respiratory problems during sleep. The cephalometric analyses showed a significant increase in craniomandibular intermaxillar, lower and upper goniac angles with a retroposition and posterior rotation of the mandible (high angle face) and a reduction in the rhinopharynx space caused by higher thickness of adenoids in habitually snoring children compared with controls. Cross-bites and labial incompetence as well as daytime symptoms and familiarity for habitual snoring were found in most of the studied group of snorers compared with controls. The results indicate that upper airway obstruction during sleep is associated with mild but significant cephalometric and craniofacial modifications in children complaining of habitual snoring. Whether this skeletal conformation is genetically determined or influenced by the early onset of habitual snoring remains to be assessed.

Case-Control Studies↗
PubMed1999

Habitual snoring, OSA and craniofacial modification. Orthodontic clinical and diagnostic aspects in a case control study.

BACKGROUND: This research aims to analized the clinical and diagnostic aspects of OSA in the orthodontic research field. METHODS: Through a case control study, the presence of early craniofacial modifications in a study group constituted of 13 children with long history of habitual snoring and obstructive sleep apnea syndrome (mean age 54 months, range 36-103) and in a control group constituted of 13 children with no history of snoring (mean age 60 months, range 55-67), is analyzed. Clinical neurological and orthodontic examination, cefalometrics analysis and MESAM 4 has been performed to each single child. RESULTS: Neurological clinical examination and diurnal polysomnography or nocturnal ambulatory monitoring of snoring (MESAM 4) showed that this pathology started very early in the childhood: snoring onset was 22.7 months, the apnea onset was 34.7 months. Moreover 23% of the children showed a failure to thrive. The cephalometric results revealed that OSA children showed different cranio-facial features: a maxillo-mandibular micrognathia and or retrognathia, an increment of divergency associated with an increase in the vertical development of the face and a reduced perviety of the upper airway space caused by a mechanical obstruction due to enlarged adenoids. The orthodontic clinical examination revealed that OSA patients showed posterior cross-bite, anterior open-bite and lip-incompetence. CONCLUSIONS: These results suggest that oral breathing, that is present in sleep apnea patients, is responsible of different cranio-facial anomalies. For this reason these features must be recognized, as soon as possible, in order to start an early treatment of this pathology.

Age Factors↗