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Biomedical subjects

M Partinen

Publications and source records attributed to M Partinen.

At least 19 recordsLinked to original sources
PubMed2004

Unchanged striatal dopamine transporter availability in narcolepsy: a PET study with [11C]-CFT.

OBJECTIVE: To investigate dopamine reuptake sites (dopamine transporter) in the caudate nucleus and putamen in narcolepsy. PATIENTS AND METHODS: Ten patients with narcolepsy and 15 controls were studied with positron emission tomography. A cocaine analogue [11C]-CFT was used as a radioligand. RESULTS: The uptake of[11C]-CFT was within normal limits (89% of age-adjusted control mean in the caudate nucleus and 91% in the putamen) in patients with narcolepsy. CONCLUSIONS: No evidence of altered striataldopamine transporter availability was found in narcolepsy.

Adolescent↗
PubMed2003

Effects of after-midnight intake of zolpidem and temazepam on driving ability in women with non-organic insomnia.

BACKGROUND: Occasionally, insomniac patients may take a sleeping pill after midnight. This may have consequences on their ability to drive a car and result in an increased risk of car accidents. METHODS: This double-blind, randomized, placebo-controlled, three-treatment three-period cross-over study investigated the effects of two frequently prescribed hypnotics of different classes in a real life condition on driving performance and psychomotor skills in insomniac women. Single doses of zolpidem 10 mg (Z), temazepam 20 mg (T) or placebo (P) were administered at 2:00 a.m. to 19 women aged 35-60 years in three treatment periods separated by wash-out periods of 3-14 days. After polysomnography at baseline and each treatment night, patients underwent, 5.5 h after drug intake at 7:30 a.m. on the next morning, a STISIM driving simulator test, and a subsequent neuropsychological test (FePsy). RESULTS: Eighteen insomniac women were included in the analysis (mean age 50 years, mean weight 69 kg, mean BMI 25.6 kg/m2). There were no differences between treatments for the primary outcome measure (mean time to collision; baseline: 0.120 s, P: 0.124, T: 0.118, Z: 0.124; P> or =0.12 for all pairwise comparisons). No differences were recorded for speed deviation and reaction time to tasks for the verum treatments, however, lane position deviation was greater after administration of zolpidem in comparison to both placebo and temazepam (P=0.025 and 0.05, respectively). There were no differences between treatments in the FePsy test. Both medications were well tolerated. CONCLUSIONS: 5.5 h after drug administration there were no major differences in psychomotor performances between both zolpidem and temazepam compared to placebo, which indicates the absence of significant residual effects at that time. However, certain patients were more susceptible than others to the drug effects (two patients with high number of collisions). This underlines the necessity to strongly advocate against the late intake of hypnotics if patients intend to drive a car early the next morning.

Arousal↗
PubMed2001

Insufficient sleep--a population-based study in adults.

STUDY OBJECTIVES: Insufficient sleep (sleep deprivation) is a common problem of considerable health, social, and economical impact. We assessed its prevalence and associations, and the role of genetic influences. DESIGN: Panel study based on questionnaires administered in 1981 and 1990. SETTING/PATIENTS: 12.423 subjects aged 33-60 years included in the Finnish Twin Cohort, representative of the Finnish population. INTERVENTIONS: N/A. MEASUREMENTS: A difference of 1 hour between the self-reports of the sleep need and the sleep length was considered insufficient sleep. Associations with education, life style, work, psychological characteristics and sleep-wake variables were assessed. Structural equation modelling techniques were used to compare genetic models among monozygotic and dizygotic twin pairs. RESULTS: In 1990, the prevalence of insufficient sleep was 20.4% (16.2% in men and 23.9% in women). 44% of those with insufficient sleep in 1981 also had it 9 years later (Spearman correlation for persistence 0.334). In multivariate analyses, the strongest positively associated factors were daytime sleepiness (women: odds ratio 3.87, 95% confidence limits 3.24-4.63/men: 3.77, 2.98-4.75), insomnia (2.48, 1.92-3.19/2.91, 2.17-3.90), not able to sleep without disturbance (1.95, 1.47-2.60/2.54, 1.66-3.89), and evening type (2.10, 1.65-2.69/1.73, 1.25-2.41). Among men, also weekly working hours > or =75 was strongly associated (3.23, 1.54-6.78). "Not working" was negatively associated in both genders (0.68, 0.51-0.89/0.59, 0.42-0.83). Two thirds of the interindividual variability in the liability to insufficient sleep was attributed to non-genetic factors. CONCLUSIONS: Insufficient sleep is a common and long-standing condition, most strongly associated with sleep/wake variables. One third of the liability to it is attributed to genetic influences. Sleep sufficiency should be assesssed in health examinations of working adults.

Adult↗
PubMed2001

Parasomnias: co-occurrence and genetics.

In clinical practice, parasomnias are often found to run in families and to co-occur. Several studies have indicated a role of genetic factors in them. In 1990, a questionnaire (response rate, 77%) sent to the Finnish Twin Cohort, a representative population sample aged 33-60 years, surveyed the frequency of five parasomnias (sleepwalking, sleeptalking, enuresis, bruxism, and nightmares) in childhood and as adults. In assessing the phenotypic covariation and shared genetic effects between the parasomnias, we used polychoric correlations and structural equation modelling. In childhood (n = 5856 individuals), co-occurrence is highest in sleeptalking with sleepwalking (R = 0.73), nightmares (R = 0.50), and bruxism (R = 0.43). As adults (n = 8567), the results are similar (R = 0.56, 0.43, and 0.39, respectively). The analyses of shared genetic effects included 815 monozygotic and 1442 dizygotic twin pairs with complete responses on four parasomnias as adults. The strongest genetic covariation was found in sleeptalking with sleepwalking, sleeptalking with bruxism, and in sleeptalking with nightmares. The estimated proportions of shared genetic effects were 50, 30, and 26%, respectively. The present results indicate that parasomnias share some common genetic background.

Adult↗
PubMed2001

Sleep and its disturbance in a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5).

To examine the nature of sleep disturbance in patients with a variant form of late infantile neuronal ceroid lipofuscinosis (CLN5), we studied 12 patients (age range 7-32 years). We used a sleep questionnaire to assess sleep and its disturbances quantitatively. To identify the periodicity in the diurnal rest-activity rhythms, the motor activity level was recorded by activity monitors continuously for a 1-week period with concomitant sleep logs. In addition, whole-night polysomnographic recordings were performed. The patients under 20 years of age had an excess of nocturnal sleep (the mean of the usual duration of nighttime sleep was 10.0 hours) and frequent daytime naps. Frequent shifts of the longest sleep period into the daytime hours and fragmented diurnal rest-activity patterns with no distinct rhythm occurred in the older patients. The progressive disease may damage the internal circadian timing system and also impair the ability of patients with variant late infantile neuronal ceroid lipofuscinosis to use external time cues for synchronization of their sleep and environmental time.

Adolescent↗
PubMed2000

An FDOPA PET study in patients with periodic limb movement disorder and restless legs syndrome.

The authors investigated nine drug-naive patients with periodic limb movement disorder and restless legs syndrome (PLMD-RLS) and 27 healthy controls with PET using 6-[18F]fluoro-L-dopa (FDOPA). In the patients, the FDOPA uptake (Ki(occ)) in the caudate nucleus was 88% and in the putamen 89% of the control mean values. This equal affection of the caudate and the putamen differs, for example, from the dopaminergic dysfunction in Parkinson's disease, which affects the putamen earlier and more severely than the caudate. The current results indicate mild nigrostriatal presynaptic dopaminergic hypofunction in PLMD-RLS.

Adult↗
PubMed2000

Sleep alterations in juvenile neuronal ceroid-lipofuscinosis.

In juvenile neuronal ceroid-lipofuscinosis (JNCL), sleep disorders are common. The purpose of this study was to investigate the sleep structure of 28 patients with JNCL compared with healthy controls subjects and to clarify the pathophysiology underlying the sleep disturbances in these patients. Each of 28 patients with JNCL (age range = 6-27 years), with or without sleep complaints, underwent one night of polysomnography. Electroencephalographic, electro-oculographic, electromyographic, and electrocardiographic findings were recorded. Sleep was scored and analyzed visually. The sleep parameters of the patients were compared with those of healthy control subjects. In most of the patients, the total sleep time, sleep efficiency, and percentages of rapid eye movement (REM) and non-REM (NREM) stage 2 sleep were significantly decreased, and the percentages of NREM stage 1 and slow-wave sleep and the number of nocturnal awakenings significantly increased. The percentage of NREM stage 1 and the number of awakenings increased with age and clinical stage. Paroxysmal epileptiform activity during light sleep (NREM stages 1-2) and high-amplitude delta-wave activity with intermingled sharp waves during slow-wave sleep were characteristic of the recordings. The present study revealed that in patients with JNCL, sleep is consistently altered.

Adolescent↗
PubMed2000

PSG-EXPERT. An expert system for the diagnosis of sleep disorders.

This paper describes PSG-EXPERT, an expert system in the domain of sleep disorders exploring polysomnographic data. The developed software tool is addressed from two points of view: (1)--as an integrated environment for the development of diagnosis-oriented expert systems; (2)--as an auxiliary diagnosis tool in the particular domain of sleep disorders. Developed over a Windows platform, this software tool extends one of the most popular shells--CLIPS (C Language Integrated Production System) with the following features: backward chaining engine; graph-based explanation facilities; knowledge editor including a fuzzy fact editor and a rules editor, with facts-rules integrity checking; belief revision mechanism; built-in case generator and validation module. It therefore provides graphical support for knowledge acquisition, edition, explanation and validation. From an application domain point of view, PSG-Expert is an auxiliary diagnosis system for sleep disorders based on polysomnographic data, that aims at assisting the medical expert in his diagnosis task by providing automatic analysis of polysomnographic data, summarising the results of this analysis in terms of a report of major findings and possible diagnosis consistent with the polysomnographic data. Sleep disorders classification follows the International Classification of Sleep Disorders. Major features of the system include: browsing on patients data records; structured navigation on Sleep Disorders descriptions according to ASDA definitions; internet links to related pages; diagnosis consistent with polysomnographic data; graphical user-interface including graph-based explanatory facilities; uncertainty modelling and belief revision; production of reports; connection to remote databases.

Computer Systems↗
PubMed1999

Blink duration as an indicator of driver sleepiness in professional bus drivers.

This study focused on eyeblink duration as a measure of sleepiness in on-road driving and on the driving performance of professional bus drivers with polysomnographically confirmed mild obstructive Sleep Apnea Syndrome (OSAS). Ten bus drivers with OSAS and their matched controls participated in the study. The Maintenance of Wakefulness Test (MWT) and a monotonous on-road driving task were completed. Eyeblink duration and frequency and speed control were measured while driving. Lane-keeping was evaluated by the supervisor in the car. Subsequent to these tasks, drivers with OSAS received continuous positive airway pressure treatment (nasal CPAP). After nine weeks of treatment, the tasks were repeated. Prior to treatment the average blink duration in the driving task was significantly longer and sleep latency in the MWT was significantly shorter for bus drivers with OSAS than for controls (mean blink duration 82.3 ms; 51.9 ms and mean sleep latency 23.2 min; 35.4 min), indicating increased daytime sleepiness. Subsequent to treatment both measures in drivers with OSAS decreased to the level of the controls. Treatment effects in MWT and blink duration in on-road driving also correlated significantly. No significant differences between the groups appeared in average blink frequency or driving performance in terms of maintenance of speed. No significant lane drifting appeared either. These results support earlier findings on blink duration as an indicator of increased sleepiness and have important implications for those involved in the transport technological industry. The findings also suggest that nasal CPAP treatment is effective in reducing excessive daytime sleepiness.

Adult↗
PubMed1999

Nightmares: familial aggregation and association with psychiatric disorders in a nationwide twin cohort.

We quantified the genetic influences affecting the liability to nightmares, and the association between nightmares and psychiatric disorders in a community-based sample. In 1990, 1,298 monozygotic (MZ) and 2,419 dizygotic (DZ) twin pairs aged 33-60 years responded to a questionnaire study in the Finnish Twin Cohort. Structural equation modeling was used to estimate genetic and environmental components of variance in the liability to nightmares. Records on hospitalization and long-term antipsychotic medication were used to estimate the period prevalence of serious psychiatric disorders. Nightmares were reported more frequently in females both in childhood and as adults. The correlation between occurrence in childhood and as adults was 0.69 in males and 0.71 in females. Polychoric correlations of occurrence within the twin pairs were 0. 45 in MZ and 0.21 in DZ pairs in childhood, and as adults 0.39 and 0. 18, respectively. The best fitting genetic model was that specifying additive genetic and unshared environmental effects. The estimated proportion of genetic effects in childhood was in males 44% (95% confidence interval [CI] 35-52%) and in females 45% (95% CI 38-52%) of the phenotypic variance. As adults the values were in males 36% (95% CI 27-44%) and in females 38% (95% CI 31-45%). Nightmare frequency and psychiatric disorders were linearly associated. Among those with the most frequent nightmares odds ratios (95% CI) were 3. 67 (2.48-5.42) for childhood and 5.87 (4.08-8.45) for adults compared with those never having nightmares. Nightmares are quite a stable trait from childhood to middle age. There are persistent genetic effects on the disposition to nightmares both in childhood and adulthood. Nightmares are significantly associated with psychiatric disorders.

Adult↗
PubMed1999

Limits of self-report in assessing sleep terrors in a population survey.

Sleep terrors are less frequent compared to other parasomnias, and there are no prevalence studies on adults. We performed a questionnaire study in a well-defined population-based sample, the Finnish Twin Cohort. The study population consisted of 11,220 subjects aged 33-60 years, responding to questions on the frequency of sleep terrors in childhood and as adults. In the first questionnaire about 9% reported sleep terrors often or sometimes in childhood, and 3.5% at least once monthly as adults. However, in a second more-detailed questionnaire, only 1% of those with at-least-monthly attacks in adulthood presented with features compatible with the minimal diagnostic criteria for sleep terrors of the International Classification of Sleep Disorders. There was also a strong correlation between current occurrence of nightmares and the report of sleep terrors. Although a clinically definable entity, sleep terrors seem to be unknown to lay people, at least in Finland. Therefore, the use of single items or brief question series on sleep terrors may give inaccurate results in questionnaires. An interview of a person who has witnessed the nocturnal attack suspected to be sleep terror is essential because of the patient's impaired recall of the episode. Our results also support the general view that sleep terrors are rare in adults.

Adult↗
PubMed1999

Obstructive sleep apnoea syndrome in hereditary gelsolin-related amyloidosis.

Gelsolin-related amyloidosis (AGel amyloidosis) is a rare autosomal dominant disorder, reported worldwide in kindreds carrying a G654A or G654T gelsolin gene mutation. The main clinical signs are cutis laxa, cranial and peripheral neuropathy, and corneal lattice dystrophy but heavy intermittent snoring also occurs. To evaluate whether sleep apnoea is present we performed nocturnal sleep recordings, cephalometric and spirometric analyses and multiple sleep latency tests (MSLT) in five snoring patients with a G654A gelsolin gene mutation. Four patients had obstructive sleep apnoea syndrome (OSAS) with redundant oropharyngeal and hypopharyngeal soft tissues, macroglossia and cranial neuromuscular dysfunction. The fifth patient had hypersomnia without obstructive sleep apnoea. Nasal continuous positive airway pressure (CPAP) was an effective treatment. This study presents the first evidence in favour of an association between AGel amyloidosis and OSAS, but further studies are needed to define the prevalence of OSAS and the pathogenetic roles of amyloid and variant gelsolin in its evolution.

Aged↗
PubMed1999

Cognitive function and treatment of obstructive sleep apnea syndrome.

Among patients with obstructive sleep apnea syndrome (OSAS), impairment of cognitive function, i.e. deficits in memory, attention, and visuconstructive abilities are common. We applied different forms of treatment for patients with newly diagnosed OSAS in a randomized study with a one-year follow-up. Patients with BMI > 40 kg/m2 were excluded. After the initial diagnostic work-up, male patients were considered to be candidates for either nasal continuous airway pressure (nCPAP) (27 patients) or surgical treatment (uvulopalatopharyngoplasty with or without mandibular osteotomy) (23 patients). Within the groups, the patients were then randomized to active treatment (nCPAP/surgery) or to conservative management. Cognitive function and severity of OSAS were assessed prior to treatment and 3 and 12 months later. At 12 months, all patients on nCPAP had a normal ODI4 index (< 10), and were significantly less somnolent than their controls; 3/11 of the surgically treated patients had a normal ODI4 index. Daytime somnolence was significantly less severe in the surgically treated patients than in their controls. Cognitive function did not correlate importantly with daytime sleepiness or severity of OSAS; the best Pearson pairwise correlation coefficient was between ODI4 and the Bourdon-Wiersma (r = 0.36). Success in treatment of OSAS did not affect neuropsychological outcome. We concluded that the standard cognitive test battery is insufficiently sensitive to identify positive changes in patients with OSAS, especially among those with a high level of overall mental functioning.

Adolescent↗
PubMed1998

Nocturnal enuresis in a nationwide twin cohort.

We studied the occurrence of nocturnal enuresis (bedwetting) after the age of 4 years, using a questionnaire in a well-defined population, the Finnish Twin Cohort, which consists of 11,220 subjects aged 33-60 years, including 1298 monozygotic and 2419 dizygotic twin pairs. Structural equation modeling techniques were used to estimate variance components to compare different genetic models. Females reported enuresis in childhood "often" in 3.4% (males in 4.0%) and "sometimes" in 5.7% (8.0%). As adults, females had experienced enuresis "weekly" in 0.3% (males in 0.2%) and "monthly" in 0.07% (0.1%). Those who had experienced enuresis in childhood had had "at least sometimes" enuresis as adults in 5.4% of males and in 5.5% of females. Among those who reported they never had experienced enuresis as adults, 70.8% of males and in 77.9% of females had never experienced enuresis in childhood. For enuresis in childhood, the probandwise concordance rate was 0.43 for monozygotic and 0.19 for dizygotic pairs, and in adults 0.25 and 0, respectively. The proportion of total phenotypic variance attributed to genetic influences (due to dominance) was 67% in males (95% confidence interval 57-76%) and 70% in females (61-78%) in childhood enuresis. In conclusion, nocturnal enuresis is common in childhood and rare in adulthood. Our results confirm the central role of genetic liability in enuresis.

Adult↗
PubMed1998

Polysomnography and maintenance of wakefulness test as predictors of CPAP effectiveness in obstructive sleep apnea.

Nasal continuous positive airway pressure (CPAP) therapy is usually effective in the treatment of obstructive sleep apnea (OSA), reversing the excessive daytime sleepiness associated with OSA. We investigated how polysomnography and maintenance of wakefulness test (MWT) predicted response to CPAP therapy in 10 patients with obstructive sleep apnea and 10 healthy controls. After a full polysomnography and MWT the patients were started on CPAP. MWT was repeated to quantify the treatment effect. Oxygen desaturation index and the percentage of slow wave sleep were the best predictors for baseline S1 latency in MWT. Baseline S1 latency in the MWT was the most important determinant of improvement in MWT S latency after CPAP, followed by the latency to 10 min of continuous nocturnal sleep, arousal index and CPAP use. We suggest that in mild sleep apnea, knowledge of sleep architecture is not necessary before deciding whether or not to initiate CPAP treatment.

Adult↗