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Biomedical subjects

A Oldani

Publications and source records attributed to A Oldani.

At least 19 recordsLinked to original sources
PubMed2005

REM sleep behaviour disorder.

REM sleep behaviour disorder (RBD) is a parasomnia characterised by nocturnal complex motor activity associated with dream mentation. RBD, which affects mainly older men, may be idiopathic or associated with other neurological disorders. A strong association between RBD and alpha-synucleinopathies has been recently observed, with the parasomnia often heralding the clinical onset of the neurodegenerative disease. The idiopathic form accounts for up to 60% of the cases reported in the three largest series of RBD patients. Follow-up studies in small samples revealed that a proportion of RBD patients will eventually develop Parkinson's disease and/or a dementia of Lewy bodies type in the years following the RBD diagnosis. Recently, neurophysiological and neuropsychological studies in idiopathic RBD have found evidence of central nervous system dysfunction. An impairment of cortical activity, specific neuropsychological deficits, signs of autonomic dysfunction and olfactory impairment have been observed in these patients, challenging the concept of idiopathic RBD. The detection of early markers of neurodegenerative disorders in idiopathic RBD, and the evaluation of their value by the combined application in prospective studies may be crucial for developing early intervention strategies.

Aggression↗
PubMed2005

'Nocturnal groaning': just a sound or parasomnia?

We describe the clinical and polysomnographic characteristics of 12 patients complaining of expiratory groaning during sleep. Groaning occurred almost exclusively during rapid eye movement sleep. We reviewed all the literature cases, obtaining a total sample of 27 patients. There is no evident association with any predisposing factors or underlying disease. The results obtained from empirical treatment, including drugs and CPAP, are unsatisfactory. The origins of nocturnal groaning, as well as the long-term prognosis, remained unexplained.

Adolescent↗
PubMed2004

Neuropsychological assessment in idiopathic REM sleep behavior disorder (RBD): does the idiopathic form of RBD really exist?

OBJECTIVE: To evaluate the cognitive performance of patients with idiopathic REM sleep behavior disorder (RBD). METHODS: The authors studied 17 consecutive patients with idiopathic RBD vs 17 age- and education-matched control subjects. Tests given to each patient and control included Mini-Mental State Examination, verbal and spatial short-term memory, visual selective attention, verbal fluency, prose memory, visuoconstructional abilities, spatial learning, and executive function tests. A self-administered depression rating scale was also used. RESULTS: RBD patients had significantly lower scores than control subjects in two tests: copy of Rey-Osterrieth Figure and Corsi Supraspan Learning. No correlation was found between the results of neuropsychological tests and RBD duration or with polysomnographic findings. CONCLUSIONS: Visuospatial constructional dysfunction and altered visuospatial learning may be present in idiopathic RBD. A neuropsychological assessment may be indicated in RBD patients.

Aged↗
PubMed2001

Frequency of atrial septal aneurysm in patients with recent stroke: preliminary results from a multicenter study.

BACKGROUND: The role of atrial septal aneurysm (ASA) as a risk factor for cerebral ischemia of unknown etiology is controversial. Recent studies have found an association between ASA and focal ischemic events, while results from other studies suggest a low incidence of embolism in patients with ASA. HYPOTHESIS: The present study was designed to evaluate the frequency of ASA, a minor cardioembolic source, in patients with a recent stroke presenting with normal carotid arteries. METHODS: In all, 394 patients with cerebral ischemic stroke were referred to our institutions. Patients underwent transthracic and transesophageal echocardiography and carotid artery ultrasound examination. The study population included 215 patients without significant arterial disease. Frequency and morphologic characteristics of ASA were evaluated. RESULTS: Transthoracic examination showed ASA in 39 patients (18%), while transesophageal echocardiography showed ASA in 61 patients (28%). A patent foramen ovale was found in 47 patients (21.8%) and was associated with ASA in 40 patients (65.5%). We observed an increased thickness of the aneurysmatic wall (3.80 +/- 1.7 mm) in all patients with ASA. CONCLUSIONS: The present study confirms the relationship between ASA and stroke in patients with normal carotid arteries. The most common abnormality associated with ASA was patent foramen ovale. We suggest that patients who have a stroke in the absence of significant carotid disease undergo transesophageal echocardiography to identify possible underlying septal abnormalities.

Aged↗
PubMed2001

Atrial septal aneurysm as a cardioembolic source in adult patients with stroke and normal carotid arteries. A multicentre study.

BACKGROUND: Atrial septal aneurysm has been considered a potential source of cardiogenic embolism for many years. The present study evaluated the prevalence and characteristics of atrial septal aneurysm in a patient population with stroke and normal carotid arteries compared to a control population without stroke. METHODS: A total of 606 patients were enrolled between November 1990 and December 1996. The study group included 245 patients who had experienced cerebral ischaemic attack but had normal carotid arteries. The control group included 316 age- and sex-matched patients undergoing transoesophageal echocardiography for indications other than a search for a cardiac source of embolism. The prevalence and morphological characteristics of atrial septal aneurysm were evaluated and compared. Results We reported a higher prevalence of atrial septal aneurysm in the group with cerebral ischaemia; 68 patients (27.7%) vs 36 patients (9.9%) from the control group; P<0.001. A patent foramen ovale was detected with contrast injection in 69.2% of the patients with atrial septal aneurysm. Atrial septal aneurysm predicted the presence of a patent foramen ovale (odds ratio of patent foramen ovale 4.2; 95% CI 1.03-9.8). Multivariate analysis showed that atrial septal aneurysm was an independent predictor of an embolic event. In the 95% of patients with atrial septal aneurysm and cerebral ischaemia aged less than 45 years, transoesophageal echocardiography did not detect a source of embolism other than an associated patent foramen ovale. CONCLUSIONS: The prevalence of atrial septal aneurysm in patients with cerebral ischaemia and normal carotid arteries was 27.7%, higher than the control group. Atrial septal aneurysm was frequently associated with patent foramen ovale. In patients less than 45 years old, atrial septal aneurysm was the only potential cardiac source of embolism detected with transoesophageal echocardiography.

Adult↗
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

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↗
PubMed1998

The neurophysiological evaluation of nocturnal frontal lobe epilepsy.

The most reliable technique for the diagnosis of nocturnal frontal lobe epilepsy (NFLE) is nocturnal video-polysomnography, which is an expensive procedure and unavailable in many Departments of Neurology and Epileptology around the world. The aim of the present study was to evaluate the role of routine video-EEG and video-EEG after sleep deprivation, during the daytime, in the diagnosis of NFLE. We studied 23 patients complaining of repeated nocturnal motor attacks using a 3-level neurophysiological evaluation, including video-EEG when awake (level 1), video-EEG after sleep deprivation, during the daytime (level 2) and nocturnal video-polysomnography (level 3). All the patients had a normal video-EEG when awake. The video-EEG after sleep deprivation (level 2) allowed a diagnosis of NFLE in 52.2% of the patients, while the nocturnal video-polysomnography (level 3) allowed this diagnosis in 87.0% of the same sample. In the patients complaining of repeated nocturnal motor attacks, a video-EEG after sleep deprivation performed during the daytime, could be useful for diagnosis in about one half of cases. This methodology is routinely performed in many Departments of Neurology and Epileptology, and is much less binding and expensive than nocturnal video-polysomnography and so it could be important economically for the health service.

Adolescent↗