Replicated linear association between DUF1220 copy number and severity of social impairment in autism.

Sequences encoding DUF1220 protein domains exhibit an exceptional human-specific increase in copy number and have been associated with several phenotypes related to brain size. Autism is a highly heritable and heterogeneous condition characterized behaviorally by social and communicative impairments, and increased repetitive and stereotyped behavior. Given the accelerated brain growth pattern observed in many individuals with autism, and the association between DUF1220 subtype CON1 copy number and brain size, we previously investigated associations between CON1 copy number and autism-related symptoms. We determined that CON1 copy number increase is associated with increasing severity of all three behavioral features of autism. The present study sought to replicate these findings in an independent population (N = 166). Our results demonstrate a replication of the linear relationship between CON1 copy number and the severity of social impairment in individuals with autism as measured by Autism Diagnostic Interview-Revised Social Diagnostic Score, such that with each additional copy of CON1 Social Diagnostic Score increased 0.24 points (SE = 0.11, p = 0.036). We also identified an analogous trend between CON1 copy number and Communicative Diagnostic Score, but did not replicate the relationship between CON1 copy number and Repetitive Behavior Diagnostic Score. Interestingly, these associations appear to be most pronounced in multiplex children. These results, representing the first replication of a gene dosage relationship with the severity of a primary symptom of autism, lend further support to the possibility that the same protein domain family implicated in the evolutionary expansion of the human brain may also be involved in autism severity.

[Emotional stress as a clinical model to study the pathogenesis of the initial phase of the general adaptation syndrome].

INTRODUCTION: General adaptation syndrome (GAS), the basis of the development of which is stress phenomenon, is an essential component of the pathogenesis of many diseases and syndromes. However, the patho genesis of GAS hitherto is considered exclusively from the endocrinological viewpoint. This relates primarily to the initial phase of the GAS, a clinical model for the study of which may be psycho-emotional stress (PES), which we studied using three groups of volunteers. METHODS: The first one consists of 25 students who were waiting for unaccustomed physical activity (17 men) and play debut on the stage (8 women). The second group consists of 48 children (2-14 years) who expected for "planned" surgery. The third group of volunteers is made up of 80 students (41 women and 39 men) during the first exam. The concentration of cortisol, endotoxin (ET), the activity of antiendotoxin immunity (AEI) and the haemostatic system parameters were determined in the blood serum of volunteers in various combinations. RESULTS: We found laboratory evidence for PES at 92% of students of the first group, 58% of children of the second one and in 21% of students of the third group of volunteers (mostly women). The concentration of ET increased at 13 (52%) volunteers of the first group with a significant increase of average indicators in the whole group (from 0.84 ± 0.06 to 1.19 ± 0.04 EU/ml). At children of the second group, the average concentration of ET increased even more significantly (from 0.42 ± 0.02 to 1.63 ± 0.11 EU/ml), which was accompanied by the activation of the hemostasis system. A degree of the activation was directly dependent on the level of ET in the general circulation and on an activity of AEI. Examination stress in the third group of volunteers is accompanied by activation of plasma hemostasis (increased initial thrombosis rate and reduced the time it starts, lag-period) in 26% of female students and 15% of male students. CONCLUSION: We suggest that it is possible to use the PES as a clinical model for studying the initial phase of the GAS, examine the role of excess of intestinal ET in the general blood circulation (endotoxin aggression) in the induction of systemic inflammation, which is very likely participated in the initiation of the GAS.

Physiological and functional consequences of caregiving for relatives with dementia.

BACKGROUND: Chronic stress negatively affects health and well-being. A growing population of informal dementia caregivers experience chronic stress associated with extraordinary demands of caring for a relative with dementia. This review summarizes physiological and functional changes due to chronic dementia caregiver stress. METHODS: A literature search for papers assessing effects of dementia caregiving was conducted focusing on publications evaluating differences between caregivers and non-caregivers in objective measures of health and cognition. RESULTS: The review identified 37 studies describing data from 4,145 participants including 749 dementia caregivers and 3,396 non-caregiver peers. Objective outcome measures affected in dementia caregivers included markers of dyscoagulation, inflammation, and cell aging as well as measures of immune function, sleep, and cognition. Though diverse in designs, samples, and study quality, the majority of the studies indicated increased vulnerability of dementia caregivers to detrimental changes in health and cognition. Demographic and personality characteristics moderating or mediating effects of chronic stress in caregivers were also reviewed. CONCLUSIONS: There is accumulating evidence that chronic dementia caregiver stress increases their vulnerability to disease and diminishes their ability to provide optimal care. Clinicians and society need to appreciate the extent of deleterious effects of chronic stress on dementia caregiver health.

[Peculiarities of adaptation of servicemen service].

Review of issues about the adaptation of servicemen in the process of military service is presented. Characteristics of military service, conditions and levels of official-military activity, peculiarities of adaptation, factors providing progression of psychosomatic diseases and dysaptation, concept "occupational health" are considered.

When do adaptive developmental mechanisms yield maladaptive outcomes?

This article discusses 3 ways in which adaptive developmental mechanisms may produce maladaptive outcomes. First, natural selection may favor risky strategies that enhance fitness on average but which have detrimental consequences for a subset of individuals. Second, mismatch may result when organisms experience environmental change during ontogeny, for instance, because they move from one environment to another. Third, organisms may learn about their environment in order to develop an appropriate phenotype; when cues indicate the environmental state probabilistically, as opposed to deterministically, sampling processes may produce mismatch. For each source of maladaptation, we present a selection of the relevant empirical research and illustrate how models from evolutionary biology can be used to make predictions about maladaptation. We also discuss what data can be collected to test these models in humans. Our goal is to show that evolutionary approaches not only yield insights into adaptive outcomes but can also illuminate the conditions leading to maladaptation. This perspective provides additional nuance to the dialectic between the developmental psychopathology model and evolutionary developmental psychology.

[Immunity and health: the accelerated aging of immune system in veterans of extra risk divisions].

This article presents the data about state of health and immunity in veterans of extra risk divisions. The increased morbidity and immunity infringement in the remote terms after nuclear tests, and also while liquidation of consequences of radiating failures on nuclear submarines are shown. Changes of humoral factors of nonspecific protection, concentration of immunoglobulinums, in blood whey, a sensitization of lymphocytes to respiratory viruses, humoral and cellular autoimmune shifts are registered. Some of the revealed changes (complement, lysozyme, concentration of immunoglobulinums) are a consequence of advanced age and accompanying diseases in the people surveyed, and others (autoimmune shifts, a sensitization to respiratory viruses) can be connected with carrying out of tests of the nuclear weapon. Some of immunological changes are apparently a consequence of joined actions of radiating and not radiating factors. Among the last ones stress plays the essential role. For the characteristic of a state of health in 20-40 years after carrying out nuclear tests and possible radiating influence the estimation of autoimmune changes has a great value. The important role of such changes in morbidity of veterans of extra risk divisions is shown.

[Dysaptation in troops called up for military service to the Northern Fleet].

Analyzed the results of the survey and inspection of about 75 000 conscripts who came to the acquisition of forces and troops of the fleet in terms of the Kola Polar region in 2001-2010. Cases of identified mental disorders in the number of young recruits in the period of examination by military medical committee designated as the primary dysaptation, and later--as delayed. The authors concluded that at present time we can expect the total number of recruits 4.45% of persons with mental dysaptation, including 0.52% of the primary and 3.93% with delayed. Over the last 10 years, an average of 4.45% of conscripts who came to the acquisition of forces (troops) of the Northern Fleet, dismissed by reason of mental dysaptation. The main contribution to the structure of the causes of limited recognition of the young recruits fit and unfit for military service were neurotic disorders and personality pathology. The authors suggest a specific position on a number of documents that need proof in order to improve the quality of maintenance training and combat activities of troops and naval forces.

[Effect of adrenocorticotropic hormone (ACTH4-10) on information network of the cardiovascular systems].

The polyparametric description of adaptation syndromes in students using a uniform set of parameters of cardiovascular system and their relationships is presented. An analog of adrenocorticotropic hormone (ACTH4-10) is shown to exert varying effects on the development of different adaptation syndromes. Adaptation syndromes characterized by moderately active physiological processes (as judged by EGG, rheovasogram, respiration rate) and lowered vascular tonus were associated with marked improvement of the health status.

[Application of balneotherapeutic factors in the system of rehabilitative treatment of children with environmental dysadaptation syndrome].

Combined balneotherapy including intake and external application of Zheleznovodsk-type mineral water was given to 60 children at the age from 7 to 14 years presenting with environmental dysadaptation syndrome. This treatment ensured favourable dynamics of clinical signs of asthenovegetative, dyspeptic, and pain syndromes. Moreover, it exerted beneficial influence on the mechanisms of vegetative regulation, improved the psychoemotional status of the patients and functional capacity of their immune system.

Early maladaptive schemas in children: development and validation of the Schema Inventory for Children.

A Schema Inventory for Children (SIC) was developed, based on Young's schema model. Its psychometric properties were investigated in a non-clinical multi-ethnic sample of children, aged 8-13 years. The latent structure of the SIC was explored using a cross-validation design. Confirmatory factor analyses yielded satisfying fits for a modified model, that included 8 of the original 15 schema factors, as well as 3 new factors, each containing a theoretically meaningful combination of 2 or 3 original schema factors. Our data suggest that, to a certain extent, children present with the same schemas as identified in adolescents and adults, although some unique, children-specific schemas occurred. SIC item loadings were moderate to good, and all factors showed adequate discriminant validity. However, factor reliability estimates were mediocre, but in most cases still acceptable. Furthermore, results suggest adequate stability for all SIC scales. Finally, strong relations between most of the SIC scales and measures of psychopathology were found, although an opposite pattern of associations emerged for two scales (i.e., Enmeshment and Self-Sacrifice), suggesting that these schemas are not maladaptive -yet- at this young age.

[Psychophysiological factors of maintaining mental health in individuals with extreme professions].

The research aims to establish psychophysiological factors of maintaining health in individuals, in whose professional activities on the substantial level there is an extreme component. During the research it was established that the effective work of regulatory mechanisms contributes to the formation of the mental health, which stability is not a factor contributing to the restoration of psychophysiological resources.

[Stress, the consequences of its influence on humans and modern non-drug methods of its correction].

Recent literature on different kinds of stress and its behavioral, physiological and medical consequences for humans is reviewed and summarized. Modern non-drug approaches to prevention and correction of stress-induced functional disturbances in humans are analyzed, traditional and instrumental methods of anti-stress therapy are reviewed. The most attention is paid to the approaches that utilize human brain electrical activity characteristics reflected in the electroencephalogram (EEG).

[Stress among public safety and security forces. Genetic and physiopathology]. / Lo stress nelle Forze dell'Ordine. Genetica e fisiopatologia.

Hans Selye used the word "stress" exactly 68 years ago, in hi paper "A syndrome produced by diverse nocuous agents", published in Nature. The syndrome termed as "stress" induces hormonal autonomic responses and, over time, these hormonal changes can lead to ulcers, high blood pressure, arteriosclercosis, arthritis, kidney disease and allergic reactions. The aim of this study is to analyse the General Adaptation Syndrome (GAS), the response of the body to external stimuli, and the current knowledge about biochemistry, physiology and stress genetics. The police forces work is a complex profession, particularly liable to stress disease, as the adverse occurrences of the social life add to the stressing events specifics of callings regarding public order keeping. The results of the present study suggests the advisability of instituting a preventive monitoring for these workers.

Stress, stress response, and health.

Components of stress and the stress response differ between men and women. The tend-and-befriend response, mediated by oxytocin and endogenous opioids, may be more applicable to women than the fight-or-flight response, which was based largely on studies of men. Even within the flight-or-flight response pattern there are sex-based differences. The HPA axis interacts with reproductive function, such as menstruation. For immune function there are sex differences as well as differences within the menstrual phase. Inclusion of men and women in stress response studies is critical. Further study is needed to clarify the influence of ovarian hormones on the stress and immune responses during the reproductive stages in women's lives, including menarche. pregnancy, and perimenopause.

[Emerging aspects of occupational stress]. / Aspetti emergenti dello stress occupazionale.

Work stress is caused by excessive demands which foster individuals to give prompt cognitive and behavioral answers. When these solicitations exceed the possibilities of the subject to comply, non-physiological reactions may follow, including emotional, neurovegetative and behavioral changes. If adverse stimuli persist, transient alterations form syndromes such as depression, phobic syndromes, anxiety syndromes, hypertension, heart disease, eating disorders, drug addiction, and so on. The authors examine specific stressful working areas causing illnesses in workers such as the burnout syndrome and the mobbing-related adjustment disorder or the post-traumatic stress disorder.

Síndrome de Bournout: desgaste emocional en cirujanos dentistas / Burnout syndrome. Emotional distress in surgeon dentists

Numerosos estudios realizados en años recientes sugieren que existen profesiones sometidas a altos niveles de estrés entre éstas se menciona a los odontólogos. Se analiza cómo el ambiente en que el cirujano dentista desempeña su trabajo, puede verse influenciado por las demandas ambientales que ponen en riesgo su salud, pudiéndose presentar el síndrome de Burnout

[Ongoing conflict situations and physical disease]. / Aktueller Konflikt und Körperkrankheit.

In most cases psychosomatic patients are not vitally threatened. Nevertheless almost half of the emergency patients have got psychical disturbances (e.g. neurotic heart disease, states of hyperventilation or vertigo). A reason is not only the personal development of early childhood. More often the problems are to be found within strained relations. The physical illness can be conceived as an (unconscious) attempt to master a conflict or loss, as narcissistic reparation, as adaption-effort or even as self destruction Selye's theory of stress presents the linkage between the organ pathology and the influence of the psychosocial situation. Examples of medical cases explain these correlations.