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Biomedical subjects

Giuseppe Plazzi

Publications and source records attributed to Giuseppe Plazzi.

30 records · Page 2Linked to original sources

Sleep disorders in multiple system atrophy: a correlative video-polysomnographic study.

OBJECTIVE: The reciprocal relation between breathing, heart and motor system abnormalities during sleep was studied in multiple system atrophy (MSA) by means of video-polysomnographic recordings (VPSG). PATIENTS AND METHODS: Nineteen consecutive MSA patients underwent VPSG with scoring for sleep, respiratory abnormalities, heart (HR) and breathing (BR) rates, and abnormal motor activities. A comparative analysis was performed versus 10 patients with obstructive sleep apnoea syndrome (OSAS). RESULTS: All MSA patients displayed snoring, 42% stridor, and 37% OSAS. Mean sleep SaO(2) was 92.7%, and lowest SaO(2) 86%. Patients with stridor had a significant increase in BR from Wake to NREM and REM sleep, and higher HR during sleep. Respiratory muscles and tibialis anterior EMG tonic activity was frequently found, more often in patients with stridor. All patients had REM sleep behaviour disorders (RBD) and 88% periodic limb movements during sleep (PLMS). No OSAS patient had RBD or respiratory muscles and tibialis anterior tonic activity. CONCLUSIONS: MSA patients, especially those with associated stridor, commonly display impaired breathing and abnormal control of respiratory and limb muscles during sleep. Breathing and motor abnormalities are often concomitant in the same patient, indicating a diffuse impairment of sleep homeostatic integration that should be included within the diagnostic features of MSA.

Adult↗

Health-related quality of life in Italian patients with narcolepsy: the SF-36 health survey.

OBJECTIVE: To evaluate the psychometric performances of the 36-item short form (SF-36), a tool measuring health-related quality of life (HRQoL) in patients with narcolepsy or other sleep disorders, presenting excessive daytime sleepiness (EDS) as the main symptom. To compare the HRQoL of patients with narcolepsy with the Italian norm. To disclose the clinical predictors influencing the HRQoL. PATIENTS AND METHODS: One hundred and eight adults with narcolepsy, 115 with obstructive sleep apnea syndrome (OSAS) and 42 with idiopathic hypersomnia (IH) enrolled for a multicentric cross-section study employing self-administered questionnaires investigating the HRQoL (SF-36), EDS and cataplexy. A psychometric analysis and the standardized scoring of the 8 scales of the SF-36 were performed. The correlation between SF-36 scales and clinical features of narcolepsy was measured by a multiple linear regression analysis. RESULTS: SF-36 satisfied the recommended psychometric standards. Patients with narcolepsy had all domains except Bodily Pain lower than the Italian norm. Some of the variance of Physical Functioning (R(2) 0.07), Role functioning-Physical (R(2) 0.31), General Health (R(2) 0.15), Vitality (R(2) 0.10), Social Functioning (R(2) 0.21) and Role functioning-Emotional (R(2) 0.15) was explained both by EDS (inverse correlation) and disease duration (direct correlation). CONCLUSIONS: The SF-36 form is a reliable outcome measure for hypersomniac disorders. Narcolepsy seriously impacts patients' HRQoL in terms of physical and mental well-being and impairs physical and emotional functions, restricting social life. EDS is the main symptom determining this impairment. However, disease duration plays a role in counterbalancing this feature, probably by means of adaptation.

Activities of Daily Living↗

Split-screen synchronized display. A useful video-EEG technique for studying paroxysmal phenomena.

Video-EEG is an indispensable and widely used technique for studying paroxysmal phenomena. We present a method of processing video recordings to compare the sequence of ictal manifestations of different episodes. Five presentations of two seizures recorded in each of five patients are shown, in which apparently different ictal features are strongly superimposed and stereotyped. Split-screen synchronized display is a simple and valid technique for studying and presenting particular semeiological aspects of epileptic seizures. (Published with videosequences).

Adult↗

Emotional information processing in patients with narcolepsy: a psychophysiologic investigation.

OBJECTIVES: Cataplexy is the key symptom of the narcoleptic syndrome. It is usually triggered by emotions, which play an important role in the manifestation and severity of the disease. Accordingly, we compared the psychophysiologic effects on patients with narcolepsy and healthy subjects of processing visual stimuli that have established emotional valences. METHOD: Eight drug-free patients with narcolepsy with severe cataplexy and 8 controls were studied. Fifty-four color pictures (pleasant, neutral, and unpleasant) selected from the International Affective Picture System were presented on a monitor to the subjects. The effects of exposure to the pictures were assessed in muscular (corrugator, zygomatic and mylohyoid electromyographic activity), autonomic (blood pressure, heart rate, and skin conductance responses) cognitive (scalp-recorded event-related potentials), and subjective (valence, arousal, and dominance by Self-Assessment Manikin) systems. RESULTS: The autonomic, muscular, and cognitive systems showed an attenuated reaction to visual stimuli in patients compared to controls. Furthermore, patients with narcolepsy showed the lowest responses when unpleasant pictures were presented. CONCLUSIONS: Our data suggest that, compared to the group of healthy subjects, patients with narcolepsy suffer from a temporal disadvantage in input processing, in particular, of unpleasant stimuli. The drawback exhibited by these patients suggests reduced reactivity of the aversive motivational system responsible for negative or unpleasant emotions.

Adult↗

Pelvic movements as rhythmic motor manifestation associated with restless legs syndrome.

Video-polysomnographic monitoring of a patient with a 4-year history of an unpleasant restless sensation originating in his lower abdomen showed stereotyped, repetitive, rhythmic pelvic body movements resembling coital behaviour at the wake-sleep transition. We discuss the association between restless legs syndrome and rhythmic movement disorder as a particular manifestation of a spectrum of rhythmic sleep-related movement disorders.

Abdominal Muscles↗

ICSD diagnostic criteria for narcolepsy: interobserver reliability. Intemational Classification of Sleep Disorders.

STUDY OBJECTIVES: To estimate the reliability of the diagnosis of narcolepsy after clinical interview and polysomnographic evaluation among sleep medicine doctors, before and after training in application of the International Classification of Sleep Disorders (ICSD). SETTING: Videotaped semi-structured interviews of 10 patients complaining of daytime sleepiness of different etiologies. Questions referred to ICSD criteria for narcolepsy. A further series of 10 cases of narcolepsy without cataplexy were simulated, with at least a random one to three of the ICSD polysomnographic criteria at pathological levels. PARTICIPANTS AND DESIGN: Seventeen doctors were required to classify each videotaped case as "ascertained," "possible," or "excluded" narcolepsy, in two sessions: one before and one after discussion of ICSD criteria. The observers were invited to confirm or exclude the diagnosis of narcolepsy in the 10 simulated cases, according to the given polysomnographic findings, before and after an agreed proposal of the interpretation of ICSD polysomnographic criteria. Interobserver reliability was calculated using Kappa statistics. INTERVENTIONS: N/A. MEASUREMENTS AND RESULTS: Interobserver reliability of clinical judgement improved from "substantial" at baseline (Kappa 0.61) to "almost perfect" after training (Kappa 0.95). Interobserver reliability of polysomnographic findings was "fair" at baseline (Kappa 0.24), unanimous after the proposed interpretation of ICSD polysomnographic criteria. CONCLUSIONS: Baseline reliability of diagnostic judgement in suspected narcolepsy was found satisfactory among Italian sleep medicine doctors. Educational training, based on discussion of ICSD criteria, further improved agreement. Diagnosis based on polysomnographic findings, not reliable at baseline, needed a strict interpretation of ICSD criteria to attain standardization.

Adult↗

Does the prion protein gene 129 codon polymorphism influence sleep? Evidence from a fatal familial insomnia kindred.

OBJECTIVE: Experimental and clinical evidence in prion diseases suggests that the prion protein gene (PRNP) plays a role in regulating sleep. METHODS: Seventeen healthy individuals belonging to a single fatal familial insomnia pedigree, 8 carriers and 9 non-carriers of the PRNP codon 178 mutation, underwent polysomnography and spectral electroencephalographic (EEG) analysis. All were also characterized with regard to the codon 129 polymorphism on both PRNP alleles. RESULTS: PRNP codon 129 polymorphism exhibited influences on sleep-EEG activities. In particular, spindle frequency band power and balance between delta and spindle activity were found to correlate with the genotype of PRNP codon 129, irrespective of the mutation at codon 178. CONCLUSIONS: Our data suggest that PRNP codon 129 polymorphism may also affect sleep in the healthy population and warrant further studies in the general population and other sleep disorders.

Adult↗

Excessive fragmentary hypnic myoclonus: clinical and neurophysiological findings.

BACKGROUND: Brief involuntary sleep-related twitches occurring asymmetrically throughout the body define physiologic hypnic fragmentary myoclonus. An abnormal intensification of this entity identifies excessive fragmentary hypnic myoclonus (EFHM), a 'proposed sleep disorder' in the International Sleep Disorders Classification. METHODS: We describe two patients with EFHM, one associated with a REM behaviour disorder. RESULTS: EFHM activity was restricted to sleep prevailing during NREM sleep stages and the second part of the night. EMG was normal and EEG-EMG back-averaging did not show any cortical potentials related to the twitches. CONCLUSIONS: EFHM represents a pathological phenomenon which may or may not be associated with other sleep disorders. A brainstem generator explains its distribution throughout the body and the sleep stages.

Journal Article↗

Polysomnographic study of sleeplessness and oneiricisms in the alcohol withdrawal syndrome.

We describe a polysomnographic observation of the acute phase of the alcohol withdrawal syndrome, characterized by an alteration of the sleep-wake cycle and by the absence of non-rapid eye movement sleep. An atypical transitional state between rapid eye movement sleep and wake with hallucinations and enacting-dream behaviors represented the sole sleep pattern. Analogies of alcohol withdrawal syndrome with fatal familial insomnia and Morvan's fibrillary chorea suggest a common pathophysiological mechanism in these conditions.

Journal Article↗

Remitting REM sleep behavior disorder as the initial sign of multiple sclerosis.

We report a case of a 25-year-old woman presenting with a 6 month history of REM sleep behavior disorder (RBD), confirmed by video-polysomnography. A brain MRI disclosed multiple cerebral periventricular and pontine non-gadolinium-enhancing hyperintensities and CSF isoelectric focusing showed oligoclonal bands, consistent with a diagnosis of probable multiple sclerosis (MS). RBD episodes disappeared after ACTH treatment, but clinical relapses and MRI follow-up confirmed the diagnosis of MS. Although RBD has been described in association with MS, it has not been reported as a heralding sign, nor related to MS brainstem lesion. Our case emphasizes the value of RBD as a clinical tell-tale sign: when isolated RBD appears in a young subject, brain-imaging studies and long-term follow-up are warranted.

Journal Article↗

The wide clinical spectrum of nocturnal frontal lobe epilepsy.

Nocturnal frontal lobe epilepsy (NFLE) has become clinically relevant in recent years. NFLE represents a spectrum of clinical manifestations, ranging from brief, stereotyped, sudden arousals, often recurring several times per night, sometimes with a quasi-periodic pattern, to more complex dystonic-dyskinetic seizures and to prolonged "somnambulic" behaviour. Episodes of increasing intensity have been labelled as paroxysmal arousal (PA), nocturnal paroxysmal dystonia (NPD) and episodic nocturnal wandering (ENW). NFLE affects both sexes with a higher prevalence for men, is frequently cryptogenetic and displays a strong familial trait for parasomnias and epilepsy (NFLE). Seizures appear more frequently between 14 and 20 years of age, but can affect any age and tend to increase in frequency during life. Interictal and ictal scalp electroencephalography (EEG) are often normal, the use of sphenoidal leads may be helpful. Carbamazepine taken at night is often effective at low doses, but a third of the patients are resistant to anti-epileptic drugs (AED) treatment. A familial form, characterized by an autosomal dominant transmission, has also been described. Autosomal dominant nocturnal frontal lobe epilepsy is a genetic variant of NFLE, in itself both clinically and biologically heterogeneous. NFLE should be suspected in the presence of frequent stereotyped paroxysmal nocturnal motor events arising or persisting into adulthood. Videopolysomnography is mandatory to confirm the diagnosis.

Journal Article↗