Advanced oxidation protein products in obstructive sleep apnea.

Obstructive sleep apnea (OSA) is a risk factor of hypertension, coronary artery disease and stroke. OSA is also considered a cause of accelerated atherogenesis. Advanced oxidation protein products (AOPP) are among the biochemical indicators of higher risk of atherogenesis as an independent risk factor for coronary artery disease. 20 men suffering from OSA were examined using night polygraphy, the AOPP were determined from their morning blood samples. The mean AOPP concentration in the patients group was 91.8 (SD=42.3) micromol/l, in the control group 76.2 (SD=35.3) pmol/l, the difference was not significant. The AOPP were found correlated with the AHI (apnoe/hypopnoe index) (R=0.485, P=0.030). The results support the hypothesis that OSA increases the oxidative stress and atherogenesis.

Medical factors of falling asleep behind the wheel.

Drivers' sleepiness and falling asleep while driving account for a considerable proportion of vehicle accidents (studies show different results from 1% to 30%). Sleepiness is rarely well recognised as a causing factor of traffic accidents. 2.5% up to 20% people suffer from excessive daytime sleepiness (EDS) with sleep deprivation as its most frequent cause. There is a strong association between sleep deprivation and medical problems--especially sleep disturbances. The sleep apnoea syndrome (SAS) has been identified as the most common cause of habitual drowsy driving. Patients with SAS (apart from other health problems) are 6 times more likely to have accidents. After adequate treatment of severe SAS with continuous positive airway pressure the risk of accident lowered 5 x. Other important sleep disturbances include chronic insomnia, narcolepsy, restless legs syndrome and periodic limb movement in sleep. Sleepiness was described in Parkinson's disease, dementia, epilepsy, in chronic cardiacs and in people with complex internal health problems. Regular or single intake of drugs (benzodiazepines, antidepressants, antihistaminics, antipsychotics and others) can itself induce sleep problems. Sleepiness in persons without sleep disorder may occur due to preventable causes such as poor sleep habits which lead to sleep deprivation.

[Genetic disorders in the pediatric population in Orava]. / Genetické ochorenia v detskej populácii Oravy.

The study is focused on genetic characterization of the child population of the Orava region, where genetic isolates persisted as long as the middle of this century. Active screening for genetic pathology over a period of 5 years involved examination of 1058 children aged 0-14 years. Genetically determined pathological conditions were diagnosed in 757 children, which represents 1.67% of the child population of this region. Chromosomal aberrations were established in 55 children (0.12%), monogenic diseases in 193 children (0.43%), of these autosomal recessive conditions in 88 children (0.19%), and multifactorially determined conditions in 478 children (1.06%). Focal occurrence of an inherited disease was not recorded. Genetic load of the population studied was found to be comparable to that in panmictic populations. The occurrence of diseases inherited as autosomal recessive traits suggests that the influence of genetic isolates does no longer persist in Orava.

Arousals in nocturnal groaning.

BACKGROUND AND OBJECTIVE: Nocturnal groaning (catathrenia) is a chronic sleep disorder classified as parasomnia with unclear effects on sleep and life quality. It is characterized by repeated episodes of monotonous vocalization in prolonged expiration (episodes of bradypnea) occurring mostly in REM sleep. We sought to assess its impact on sleep microstructure, i.e., the frequency of arousals relative to the groaning episodes. The frequency, duration and sleep-stage distribution of the groaning episodes were also studied. METHODS: Eight patients with nocturnal groaning (5 male, 3 female, age range 11-32 years, mean age 23+/-7.1) were evaluated. All underwent standard neurologic examination and nocturnal videopolysomnography for two consecutive nights. The second night polysomnography data were used to evaluate sleep parameters. The groaning episodes (bradypneic events) were counted separately, not as clusters. RESULTS: Sleep macrostructure revealed no specific changes. The number of groaning episodes/bradypneic events during the night varied from 40 to 182 (total number 725). The duration of bradypnea was from 2 to 46s (mean duration 12.5s). Groaning episodes prevailed in REM sleep (76.5%). The rate for NREM 2 was 21.5%, and only sporadic episodes were noted in delta sleep (1.9%); 63.3% of the events were associated with arousals, and in 94% of them an arousal occurred before or together with the onset of bradypnea. The arousal index was increased in 5 patients (mean 20.4). Bruxism was present in 4 cases, in 1 patient appearing in close association with groaning episodes. Ronchopathy was noted in 4 cases. CONCLUSION: Almost two-thirds of the groaning episodes were connected with arousals. Hypothetically, nocturnal groaning may well be a source of sleep disruption (mainly REM) in some cases. Because an arousal mostly preceded or coincided with groaning we believe that arousal mechanisms may be involved in the pathogenesis of nocturnal groaning.

[Chromosome aberrations in a group of mentally retarded persons]. / Chromozómové aberácie v súbore mentálne retardovaných jedincov.

Mental retardation (MR) is a frequent manifestation in patients referred to departments of medical genetics (OLG). At the OLG in Martin their number in the years 1981-1985 was 324, i.e. 21.22% of the total number of examined subjects. MR was found as one of the pathological symptoms (symptomatic MR) in 86.73% and as the only pathological manifestation (isolated MR) in 13.27%. Genetic factors were revealed in 59%, exogenous ones in 19%, and in 22% the aetiology was not unequivocally resolved. As to genetic factors, the most frequent cause were chromosomal aberrations (in 104 patients-53%), a monogenic character was found in 68 subjects (35%) and a multifactorial one in 24 (12%). As to chromosomal aberrations, in 102 cases autosomes were affected (91 times numerical and 11 times structural affection), in four subjects a numerical anomaly of genosomes was involved and once a combined aberration of an autosomal and gonosomal character. The authors give the character and number of different types of aberrations and the incidence of so-called chromosomal markers (12 cases) and they evaluate their causal relationship with MR. Further advances in the aetiological evaluation of genetic factors will be made possible by the introduction of strip methods with a high resolution technique (use of prophasic chromosomes), combined with hybridization in situ, cytogenetic methods for the detection of individuals with the fragile X-chromosome syndrome, and in particular the application of the technology of recombinant DNA for the diagnosis of clinical and genetic units at the gene level.