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Biomedical subjects

C Hublin

Publications and source records attributed to C Hublin.

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↗
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↗
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↗
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

Sleeptalking in twins: epidemiology and psychiatric comorbidity.

Sleeptalking is usually benign but chronic cases in adults may relate to psychopathology. We hypothesize substantial genetic influences in the liability to sleeptalking and an association between sleeptalking and psychiatric disorders. In 1990 a questionnaire sent to the Finnish Twin Cohort yielded responses from 1298 monozygotic and 2419 dizygotic twin pairs aged 33-60 years. We used structural equation modelling to estimate genetic and environmental components of variance in the liability to sleeptalking. Register data on hospitalization and long-term antipsychotic medication were used to assess psychiatric comorbidity. The occurrence of childhood and adult sleeptalking was highly correlated. A gender difference was only seen in adults, with sleeptalking being more common in males than in females. The proportion of total phenotypic variance in liability to sleeptalking attributed to genetic influences in childhood sleeptalking was 54% (95% CI, 44-62%) in males and 51% (43-58%) in females, and for adults it was 37% (27-46%) among males and 48% (40-56%) among females. An association with psychiatric comorbidity was found only in adult sleeptalking, and it was highest in those with adult-onset sleeptalking (odds ratio, 3.77; 95% CI, 2.32-6.17). Sleeptalking is quite a persistent trait, also being common in adults. There are substantial genetic effects on sleeptalking both in childhood and as adults, which appear to be highly correlated. In adults psychiatric comorbidity is about twice as common in those with frequent sleeptalking, compared to those with infrequent or no sleeptalking, but most cases of sleeptalking are not associated with serious psychopathology.

Adult↗
PubMed1998

Sleep bruxism based on self-report in a nationwide twin cohort.

The relative roles of genetic and environmental factors in bruxism are not known. In 1990 a questionnaire sent to the Finnish Twin Cohort yielded responses from 1298 monozygotic and 2419 dizygotic twin pairs aged 33-60 years. We used structural equation modelling to estimate genetic and environmental components of variance in the liability to bruxism. There was a significant gender difference both in childhood (P = 0.001) and adult (P = 0.007) bruxism. Females compared to males reported childhood bruxism 'often' 5.2% vs 4.1% and 'sometimes' 17.4% vs 17.3%, and as adults 'weekly' 3.7% vs 3.8% and 'monthly' 3.9% vs 4.6%, respectively. Bruxism in childhood and adulthood is highly correlated (0.86 in males and 0.87 in females). The proportion of total phenotypic variance in liability to bruxism attributed to genetic influences in childhood bruxism was 49% (95% CI 37-60%) in males and 64% (55-71%) in females, and for adults 39% (27-50%) among males and 53% (44-62%) among females. The correlation between the genetic effects on childhood bruxism and the genetic effects on adult bruxism was estimated in a bivariate model to be 0.95 (95% CI 0.94-0.96) in males and 0.89 (0.88-0.90) in females. Bruxism appears to be quite a persistent trait. There are substantial genetic effects on bruxism both in childhood and as adults, which appear to be highly correlated.

Adult↗
PubMed1997

Prevalence and genetics of sleepwalking: a population-based twin study.

We investigated the prevalence of sleepwalking using a well defined population previously used for epidemiologic investigations: the Finnish Twin Cohort. The study population consisted of 11,220 subjects aged 33 to 60 years, and it included 1,045 monozygotic and 1,899 dizygotic twin pairs. Questions on the frequency of sleepwalking were asked separately for occurrence in childhood and adulthood. Childhood sleepwalking was significantly more frequent in women ("often" in 2.8% of women and 2.0% of men and "sometimes" in 6.9% of women and 5.7% of men). As adults, sleepwalking had occurred in 3.9% of men and in 3.1% of women, and it was reported "weekly" in 0.4% for both genders. There was no significant difference in frequency between monozygotic and dizygotic twin individuals, either in childhood or adulthood. For sleepwalking in childhood the probandwise concordance rate was 0.55 for monozygotic and 0.35 for dizygotic pairs, and for adults, 0.32 for monozygotic, and 0.06 for dizygotic pairs. Those who reported never having walked in their sleep in childhood did so as adults rarely (0.6%), both men and women. Those who reported walking in their sleep often or sometimes in childhood did so as adults for 24.6% of men and for 18.3% of women. Of adult men sleepwalkers 88.9% had a positive history of sleepwalking in childhood, and in women, 84.5%. The proportion of total phenotypic variance attributed to genetic influences was 66% in men and 57% in women in childhood sleepwalking, and 80% in men and 36% in women in adult sleepwalking. Our results show that there are substantial genetic effects in sleepwalking in both childhood and adulthood.

Adult↗
PubMed1996

Daytime sleepiness in an adult, Finnish population.

OBJECTIVES: To investigate the prevalence of and the factors associated with daytime sleepiness occurring every or almost every day. DESIGN: A cross-sectional, questionnaire survey. SUBJECTS: A total of 11,354 adults (aged 33-60 years) representative of the Finnish population. MAIN OUTCOME MEASURES: Frequency of daytime sleepiness, naps and sleep attacks; occurrence of emotion-associated muscle weakness, sleep debt, insomnia, sleep apnoeas and type of snoring; Beck Depression Inventory score; and the use of hypnotics and tranquillisers. RESULTS: A total of 11.0% of women and 6.7% of men suffered from daytime sleepiness every or almost every day. Amongst those with sleepiness (n = 1,026) 19.5% of women and 42.3% of men reported snoring > or = 3 nights per week, 25% had scores suggesting moderate to severe depression, 11% used hypnotics or tranquilizers on more than 180 days per year, and 9% reported insufficient sleep. Insomnia at least every other day was reported by 20.7% of women and by 28.6% of men. Amongst those with sleepiness, narcolepsy was found in 0.3%, with the diagnosis confirmed in a sleep laboratory evaluation. CONCLUSIONS: Daytime sleepiness occurring daily or almost daily is most often associated with depression, insomnia and sleep-disordered breathing. In most cases, indications of the cause of sleepiness can be obtained by using simple screening questions.

Adult↗
PubMed1996

Narcolepsy-like symptoms among adult twins.

The genetic architecture of narcolepsy is poorly known. Genetic and environmental components of symptoms characteristic of narcolepsy, excessive sleepiness and cataplexy were assessed in a population-based sample of middle-aged like-sexed twin pairs. Questionnaire assessment of the 11-item Ullanlinna Narcolepsy Scale (UNS), a validated screening instrument for narcolepsy [J. Sleep Res. (1994) 3, 52-59] and two subscales (sleepiness and cataplexy-like symptoms) was obtained from both twins of 3785 pairs aged 33-60 y (541 male MZ pairs, 1089 male DZ pairs, 781 female MZ and 1374 female DZ pairs) from the population-based Finnish Twin Cohort. For the UNS scores, the intraclass correlation for male MZ pairs was 0.365 and for male DZ pairs 0.072, while for female pairs the MZ correlation was 0.375 and for DZ pairs 0.155. Structural equation model fitting indicated that a model with additive and non-additive genetic effects, and idiosyncratic environmental effects best accounted for the pattern of twin resemblance in both men and women. Genetic effects accounted for 35% (in men) and for 39% (in women) of total phenotypic variance in UNS. Analysis of the subscales suggested that there may be a greater genetic component to the sleepiness subscale, while environmental components play more of a role in the development of cataplexy-like symptoms. Further investigation of the complex genetic architecture of narcolepsy and its symptoms is warranted.

Adolescent↗
PubMed1996

Striatal dopamine D1 receptors in narcolepsy: a PET study with [11C]NNC 756.

We investigated dopamine D1 receptors in the putamen and caudate nucleus with positron emission tomography in six patients with narcolepsy and five healthy controls using [11C]NNC 756 as ligand. The caudate-to-cerebellum and putamen-to-cerebellum ratios of [11C]NNC 756 were within normal limits in patients with narcolepsy. No evidence of increased D1 receptor binding in narcolepsy was found.

Adult↗
PubMed1995

Positron emission tomography study of human narcolepsy: no increase in striatal dopamine D2 receptors.

We investigated dopamine D2 receptors in the caudate nucleus and putamen with positron emission tomography in seven patients with narcolepsy and seven healthy controls by using [11C]raclopride as a ligand. We applied an equilibrium method and Scatchard principle to give a quantitative estimation of the number (Bmax) and dissociation constant (Kd) of the receptors. Both the Bmax and Kd were within the normal range in the caudate nucleus and putamen in narcoleptic patients. We found no evidence for increased D2 receptor binding in narcolepsy.

Adolescent↗
PubMed1994

The prevalence of narcolepsy: an epidemiological study of the Finnish Twin Cohort.

We investigated the prevalence of narcolepsy using a well-defined white population previously used for epidemiological investigations: the Finnish Twin Cohort. The Cohort consists of 13,888 monozygotic and dizygotic twin pairs born before 1958. There were 16,179 individuals who participated in the study, with a 77.3% response rate. The study methodology included a questionnaire covering sleep and alertness, the Ullanlinna Narcolepsy Scale (UNS), a scale specifically developed and tested for the study, telephone interviews, and finally, clinical evaluation, polygraphic recording, and HLA blood typing. Seventy-five subjects were selected for telephone interviews and laboratory evaluations based on data from both questionnaires. Five of them were strongly suspected of narcolepsy, but laboratory data identified only 3. All were dizygotic (fraternal) twins discordant for the disease with a negative family history and presence of DR2 DQw1 (i.e., DRw15 DQw6, new World Health Organization classification). The prevalence of narcolepsy in the Finnish population is 0.026% (95% confidence interval, 0.0-0.06). This prevalence is lower than that reported in studies performed without polygraphic recording and is close to that reported in 1945 in the black U.S. population. The tools developed to perform this study, the largest population study of its kind yet performed, can now be used for other population investigations.

Adult↗