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Biomedical subjects

R Manni

Publications and source records attributed to R Manni.

At least 19 recordsLinked to original sources

Hypersomnia in the Prader Willi syndrome: clinical-electrophysiological features and underlying factors.

OBJECTIVE: Excessive daytime sleepiness is a common symptom in Prader Willi syndrome (PWs). Sleep disordered breathing (SDB) and narcoleptic traits such as REM sleep onsets (SOREMPs) have been reported in these subjects. We evaluated nighttime and daytime sleep patterns in patients with PWs in order to clarify the nature of their hypersomnia. DESIGN AND METHODS: We performed overnight continuous EEG-polysomnographic studies (with breathing monitoring included) in 14 subjects (6 M,8 F; mean age 17 years, range 8-37) affected by PWs unselected for sleep disturbances. Ten patients underwent a Multiple Sleep Latency Test (MSLT) the day following the nocturnal sleep studies. Patients assessment was completed by means of immunogenetic characterization. RESULTS: Nocturnal polysomnographic investigation documented sleep related breathing abnormalities such as central apneas, hypopneas or hypoventilation which mainly occurred during REM sleep in 8 subjects and did not cause sleep disruption. Only 4 subjects presented an increase in the Respiratory Disorder Index (RDI) slightly above the normal limits. In 8 subjects out of 10, with and without SDB, the mean daytime sleep latency could be considered abnormal according to the Tanner staging of pubertal development. Five patients showed at least two SOREMPs at MSLT. Subjects with and without SOREMPs had, respectively, a mean age of 18.6 SD 7.9 (4 M, 1 F) and 14.5 SD 2.9 (4 F, 1 M). The paternal deletion:uniparental dysomy ratio at genotypic characterization was 4:1 and 3.5:1 in subjects with and without SOREMPs, respectively. No patient presented DR-15 nor Dq-6. CONCLUSIONS: Excessive sleepiness is a frequent disturbance in PWs. Subgroups of PW patients show hypersomnolence and SOREMPs. Sleep disordered breathing appears to have a limited role in the genesis of hypersomnia which not seems on the other hand attributable to the coexistence of narcolepsy phenotype. Hypersomnia in PW syndrome is likely to mainly be attributable to a primary hypothalamic dysfunction. The potential interacting role of other factors such as subjects age, sex and genetic pattern is suggested and deserve further investigation.

Adolescent↗

Evaluation of sleepiness in epilepsy.

Excessive daytime sleepiness often complicates the clinical picture of epilepsy, facilitating the occurrence of seizures and aggravating cognitive disabilities and/or behavioral problems. Thus it further adversely affects social and working activities of epileptic subjects. Both unstructured and structured clinical reports documented a not negligible proportion of epilepsy patients suffering from excessive daytime sleepiness. Studies based on neurophysiological testing such as Multiple Sleep Latency Test or Maintenance Wakefulness Test revealed a degree of daytime sleepiness tendency in epilepsy patients greater than that they subjectively estimate. Antiepileptic drugs play a remarkable role in determining drowsiness in epilepsy patients and they are generally viewed as the only cause of sleepiness in these patients. However excessive daytime sleepiness has been documented in epilepsy patients before starting any drug treatment or after its discontinuation. Both clinical and neurophysiological studies have clearly documented the possible role of seizure occurrence and of co-morbidity as determinants of excessive daytime sleepiness in epilepsy patients. Nocturnal sleep fragmentation and daytime sleepiness have been reported in temporal lobe and frontal lobe epilepsy, namely nocturnal frontal lobe epilepsy. Some recent reports have stressed that obstructive sleep apnea and periodic limb movements during sleep can significantly account for sleepiness complaints in epilepsy patients; most of the antiepileptic drugs can worsen obstructive sleep apnea. To date the evaluation of daytime sleepiness of epilepsy patients in clinical practice has been based mainly or exclusively on clinical reports. To improve our understanding of this symptom in epilepsy patients, the use of standardized sleepiness scales should be encouraged. Patients with persistent daytime sleepiness without a clear cause-and-effect relationship with antiepiletic drugs treatment or in whom a coincident sleep pathology is suspected, should be investigated by means of neurophysiological testing such as Multiple Sleep Latency Test or Maintenance Wakefulness Test.

Anticonvulsants↗

Sleep hygiene in adult epilepsy patients: a questionnaire-based survey.

Two hundred and seventy epilepsy patients referred to the Epilepsy Centre of the "C. Mondino" Institute of Neurology and 230 healthy subjects comparable for age, sex and education completed a sleep questionnaire of 112 multiple choice questions including those that concern sleep hygiene practice. The percentage of subjects with habitually inappropriate sleep hygiene habits was significantly higher in controls than in epilepsy patients for 7 out of the 9 sleep hygiene practices considered (P at chi square less than 0.05). No significant relationship between kind and/or severity of epilepsy and the degree of sleep hygiene practice was found. The data show that sleep hygiene practice is more adequate in epilepsy than in control subjects. It is possible that the appropriate sleep hygiene practice of epilepsy patients derives from the fact that they habitually refrain from a lot of practices which possibly aggravate both the course of epilepsy and seizure-related complications.

Adolescent↗

Combined Surgery for cardiac and carotid disease: management and results of a rational approach.

OBJECTIVES: The aim of the present study was to apply a rational plan for simultaneous cardiac and carotid surgery in high-risk patients. MATERIALS AND METHODS: A consecutive series of 89 patients with coexisting severe cardiac and carotid disease were operated on during a 5-year period with routinary carotid shunting, moderate hypothermia and balanced anaesthesia. The combined surgical procedures were coronary artery by-pass grafts (CABG) + carotid endarterectomy (CEA) in 81 patients, CABG + CEA + aortic valve replacement (AVR) in four patients, and four cases of CEA + AVR. RESSULTS: Two deaths (2%), three acute myocardial infarctions (3%) and one (1%) major stroke occurred in five patients during the perioperative (30 days) period for a combined rate of death and/or disabling stroke of 3%. There were five reversible neurological deficits. Carotid and aortic mean clamping times were 9 and 60 min respectively. Patients were discharged after a mean length of stay in Intensive Care Unit (ICU) of 131 h and 7 days of hospitalisation post-ICU. CONCLUSIONS: Based on our results, combined interventions of CEA and CABG can be performed with an acceptable morbidity and mortality when severe carotid stenosis is associated with advanced, symptomatic cardiac disease. The management of these patients needs careful and appropriate pre-intra and post-operative assessment and timing aimed to reduce the ischaemic injuries, both cardiac and cerebral, especially during CBP time.

Aged↗

Epileptic skew deviation.

We describe a 43-year-old neurologically intact patient who reported episodes of diplopia and oscillopsia associated with a right-beating nystagmus and a skew deviation. These symptoms and signs were related to a left posterior epileptic EEG discharge. We suggest that these ocular motor signs derived from an ictal activation of the vestibular cortex, which in turn activated descending projections to the vestibular nuclei, leading to both a dynamic (right-beating nystagmus) and a static (skew deviation) vestibular imbalance.

Adult↗

Menstrual cycle and ovary alterations in women with epilepsy on antiepileptic therapy.

Impaired reproductive function is thought to frequently affect women with epilepsy, mainly when seizures originate in the temporal lobe. In this study, we evaluated menstrual cycle features and assessed ovulation by determining luteal progesterone (Pg) levels in 101 consecutive women with epilepsy (36 with idiopathic generalized epilepsy -IGE; 65 with partial epilepsy -PE), aged between 16 and 50 years, treated with various antiepileptic drugs (AED). PE originated in the temporal lobe (TLE) in 40 subjects, in the frontal lobe in 13, in the parietal lobe in 2, while the origin of focal seizures remained undetermined in 10 patients. In all patients, menstrual and reproductive history, body mass index, hair distribution and hormonal pattern were assessed. Suprapubic ovary ultrasound (US) examination was carried out in 83 patients (28 with IGE, 55 with PE). Three patients with IGE and one with PE were amenorrheic. Oligomenorrhea occurred in 16 patients, polymenorrhea in 2. Changes in menstrual cyclicity were independent from epilepsy type (19.4% in IGE; 23.1% in PE) and from origin of focal discharges (22.5% of patients with TLE; 20.0% with origin in other brain areas). Luteal Pg levels remained below 2 ng/ml in 30 patients independently of epilepsy type. Corpus luteum dysfunction was combined with hyperandrogenism in 15 of these patients. In the other cases different alterations of hypothalamus-pituitary-ovary axis were observed. Valproic acid blunted luteal Pg surge more frequently than other AED. Polycystic ovaries (PCO) were observed in 14 (16.9%) patients (21.0% with IGE: 14.5% with PE). These prevalences are not higher than those reported in the general population. Among PE patients, PCO was found in 1 case with undetermined focal origin and in 7 TLE cases, who also had ovary volume significantly larger than patients with seizures originating from the frontal or parietal lobe. Epileptic women exhibited an increased occurrence of multifollicular ovaries (MFO) found in 12 cases (14.4% vs 5% in the general population). However, no defined hormonal or clinical pictures were associated with this US alteration in most patients. These findings reappraise the impact of ovary alterations in women mainly affected by mild to moderate epilepsy, on differing AED regimens, with the exception of more frequent ovulatory dysfunction and PCO occurrence in patients taking VPA.

Adolescent↗

Poor sleep in adolescents: a study of 869 17-year-old Italian secondary school students.

Subjective sleep quality and its related factors were investigated in 869 (530 F, 339 M) 17-year-old adolescents, who were selected from the pupils of state-run secondary schools in the city of Pavia in the north west of Italy. The study was conducted cross sectionally, and it consisted of a questionnaire based survey. One hundred and forty-two subjects (16.5% of the whole sample, 19% of the females and 11.7% of the males) met the criteria chosen for definition as poor sleepers (namely, a complaint of 'non restorative nocturnal sleep', 'often' or 'always' over the previous 12 mo). A significant association was found between chronic poor sleep and (1) gender (female) (2) emotional factors, such as worries, anxiety and depression (3) poor sleep hygiene (4) arousal related parasomnia. Only 4% of poor sleepers took sleep promoting drugs (including benzodiazepines, homeopathic products and other medications), generally without seeking medical advice.

Adolescent↗

Neuropsychologic effects of carotid endarterectomy.

This study assessed neuropsychologic changes after internal carotid endarterectomy using a design that limited the confounding effects of surgical and anesthesiological stress. Twenty-eight patients (mean age = 65.9 years, SD = 8.4, range 45-79), underwent extensive neuropsychological assessment before and on the seventh day after carotid endarterectomy for symptomatic carotid stenosis greater than 75%. A similarly assessed control group of 30 patients underwent elective orthopaedic surgery. A third cognitive assessment was performed 4 months postoperatively on a subgroup of the study patients. No significant cognitive change occurred in the control group. The study patients showed significant improvement in verbal memory, constructive abilities, verbal attainment, and visual attention; a trend towards further improvement of verbal functions was evident at the late postoperative assessment. No side-specific cognitive change was observed. In conclusion, carotid endarterectomy performed for currently accepted indications significantly improves several cognitive functions.

Aged↗

Nocturnal eating: prevalence and features in 120 insomniac referrals.

Pathologic nocturnal eating can be associated with a heterogeneous group of medical and psychiatric disorders. The current study was designed to evaluate the prevalence and clinical features of nocturnal eating syndrome (NES), a major subtype of pathological nocturnal eating. Conducted prospectively over an 18-month period (January 1994-June 1995), the study consisted of clinical, psychological, and polysomnographic assessments of 120 adult subjects (51 males, 69 females; mean age 42.6 years, range 18-86 years) who were either self-referrals (58%) or physician referrals (42%) to our Sleep Disorders Center for insomnia complaints. Nocturnal eating with features that are typical of NES, namely compulsive feeding shortly after a mid-non-rapid eye movement (NREM) sleep awakening, in the absence of daytime eating disorders, occurred in seven subjects (five females, two males; mean age 50.8 +/- 9.5 years; mean age at onset of NES 42 years, range 18-61 years), or 5.8% of the sample. NES accounted for 44.4% of all the nocturnal eating cases observed. The data suggest that an adult, late-onset variety of NES is not infrequent. Several of the clinical features of our NES patient series correspond closely to most of those observed in other descriptions of NES in the literature. Overall, the data reinforce the idea that NES is a distinct syndrome, even though some of its features overlap with sleep-related eating disorders (e.g. associated with sleepwalking, restless legs syndrome, obstructive sleep apnea, etc.) and with eating disorders such as daytime binge eating.

Adolescent↗

Efficacy and safety of topiramate in refractory epilepsy: a long-term prospective trial.

The effects of topiramate in 15 patients with drug refractory epilepsy or Lennox-Gastaut syndrome were assessed in an open, add-on prospective study. After a follow-up of 14-21 months, six patients are still on topiramate (mean dosage 583 mg/day, range 400-800 mg/day), and nine have discontinued treatment because of adverse events (n = 6), inefficacy (n = 2) or poor compliance (n = 1). Nine patients (69%) continued to have > or = 50% reduction in seizure frequency during the last two months of treatment, and one has been seizure-free for the last 19 months. The most common adverse events were somnolence, weight loss, mental slowing, fatigue, ataxia and irritability. Most of these events were reversible, but withdrawal of treatment was required in six cases as a result of ataxia (two patients), somnolence, metabolic acidosis, irritability or psychotic symptoms (one patient each). It is concluded that topiramate is a valuable agent for long-term management of refractory epilepsy.

Adult↗

Partial epileptic seizures of different origin variably affect cardiac rhythm.

PURPOSE: The present study was aimed at evaluating electrocardiographic (ECG) changes associated with partial epileptic seizures without seizure activity secondarily generalized. METHODS: We assessed heart rate (HR) changes occurring during 100 partial epileptic seizures, as recorded by ambulatory EEG-ECG in 50 outpatients. Consecutive R-R intervals were measured for the 30 s immediately preceding the onset and for the first 10-s period of discharge. In addition, HR was sampled at 10-s intervals during EEG paroxysmal discharge and for 1 min after the end of discharge. RESULTS: The highest and lowest respective HR peaks achieved during these seizures were 186 and 44 beats/ min. Analysis of the R-R intervals during the first 10-s period of EEG discharge showed a significant early HR increase in 49% of the seizures; the corresponding figure for an early HR reduction was 25.5%. Eighty percent of the seizures showing an early HR decrease were of temporal lobe origin. No severe cardiac arrhythmias were noted during the seizures. CONCLUSIONS: Our data suggest that an early HR decrease is more probable in temporal lobe seizures than in seizures of other origin. An accurate HR measurement, focused on discharge onset, may provide both a reliable way of evaluating the possible effect of partial seizures on HR and valuable information about the cerebral sites involved in the control of cardiac rhythm.

Adolescent↗

Breathing during sleep in myasthenia gravis.

The aim of this study was to assess breathing patterns during sleep in patients with generalized mild myasthenia gravis. Fourteen patients (13 F; 1M, age range 20-40 years) in a stable clinical and functional state underwent a sleep questionnaire, baseline respiratory function tests and standard nocturnal polysomnography. All of the patients had normal daytime blood-gas values, except one who showed mild hypoxemia. No patient complained of disturbed sleep; six patients reported snoring. In five patients nocturnal polysomnography showed the occurrence of short and infrequent central apneas mainly during REM sleep, together with a drop in HbSaO2 levels of more than 5% of the baseline wakefulness value. Our data indicate that, in patients with mild generalized MG in a stable functional state, breathing pattern instability during sleep is infrequent and, when it occurs, is mild and mainly related to REM sleep.

Adult↗