Computerised health interventions targeting Australian veterans and their families: A scoping review.

ISSUE ADDRESSED: Australian veterans suffer higher rates of both mental and physical health conditions than civilians, yet many do not seek treatment. Computerised Interventions (CIs) may provide an alternative approach to management, which can overcome some barriers to treatment uptake. We aim to evaluate the scope and quality of CIs designed specifically for Australian veterans and their families. METHODS: A manual search of the Department of Veterans' Affairs and other Ex-service organisation websites was performed to map and describe CIs for Australian veterans and their families, followed by a scoping review of four databases to identify evaluations of relevant CIs. RESULTS: Our search identified 10 CIs specific to Australian veterans and their families. The majority were structured, self-guided CIs, designed to elicit cognitive/behavioural change that addressed mental health and psychosocial needs during transition. Three evaluations examined previously identified CIs. The results showed mixed reviews from participants and clinicians, in two separate evaluations, regarding user experience, quality and perceived benefit. In addition, positive psychological outcomes, including the reduction of post-traumatic stress disorder (PTSD) symptoms, were demonstrated for participants of the online intervention. CONCLUSION: While Australian veteran-centric online interventions primarily focus on psychological conditions, the prevalent physical health concerns within the veteran population remain unaddressed. Additionally, despite the documented impact of military experience on family members, there is a lack of specific Australian interventions designed for families. Few tools have been formally evaluated, yet show promise as supportive self-directed resources for veterans with PTSD, and for navigating transition challenges. SO WHAT?: Further development of online interventions addressing prevalent physical and family needs, and conduction of comprehensive evaluations are needed to enhance overall quality, accessibility and holistic effectiveness of interventions for the Australian veteran community.

Scientific and technological contributions of Latin America and Caribbean countries to the Zika virus outbreak.

BACKGROUND: The recent Zika virus (ZIKAV) epidemics disclosed a major public health threat and a scientific and technological (S&T) challenge. The lessons learned from the S&T response of Latin America and the Caribbean (LAC) countries are critical to inform further research and guide scientific investments. The present study aimed to assess how new S&T knowledge produced and disseminated regionally can contribute to address global health challenges. METHODS: Scientometric and social network analysis methods were used to assess the LAC scientific contribution and potential technological development on ZIKAV up to December 2017. ZIKAV-related publications were retrieved from the Web of Science, Scopus, and PubMed databases. Regionally published articles were obtained from SciELO (Scientific Electronic Library Online) and LILACS (Literature in the Health Sciences in Latin America and the Caribbean) databases. Patent registries were retrieved using Orbit Intelligence and Derwent Innovation. Records from each database were individually downloaded, integrated, standardized and analyzed. RESULTS: We retrieved 5421 ZIKAV-related publications, revealing a sharp increase from 2015 onwards. LAC countries accounted for 20% of all publications and Brazil was among the top three most central countries in the global network for ZIKAV research. A total of 274 patent families backed up by experimental evidence were retrieved. Only 5% were filed by LAC assignees, all of them based in Brazil. The largest contribution of LAC research was on the clinical manifestations of the ZIKAV infection, along with vector control, which was also the main focus of patents. CONCLUSIONS: Our analysis offered a comprehensive overview of ZIKAV's research and development and showed that (i) LAC countries had a key role in generating and disseminating scientific knowledge on ZIKAV; (ii) LAC countries have expressively contributed to research on ZIKAV clinical manifestations; (iii) the Brazilian scientific community was potentially very effective in knowledge sharing and diffusion in the ZIKAV research network; (iv) Brazil was the single LAC country filing patents, mostly represented by independent inventors and low-tech patents. The paper advocates the need for a continued interdisciplinary approach to improve LAC countries ability to prevent, prepare for and control future outbreaks.

Sleep influences the immune response and the rejection process alters sleep pattern: Evidence from a skin allograft model in mice.

INTRODUCTION: Sleep generally regulates immune functions in a supportive manner and can affect parameters that are directly involved in the rejection process. STUDY OBJECTIVES: The first objective was to assess whether sleep deprivation (SD) or sleep restriction (SR) affects the allograft rejection process in mice. The second objective was to investigate whether the rejection process itself modulates the sleep pattern of allografted mice. DESIGN: Adult BALB/c and C57BL/6J male mice were used as the donors and recipients, respectively, except for the syngeneic group (ISOTX), which received skin from mice of the same strain (C57BL/6J). The recipients were randomly assigned to either one of two control groups - TX (allogenic) or ISOTX (syngeneic) - which underwent stereotaxic surgery to enable sleep recording prior to the allograft but were not sleep deprived; one of two paradoxical sleep deprived groups - SDTX and TXSD - which underwent 72h of continuous SD either before or after the allograft respectively, and one of two sleep restricted groups - SRTX and TXSR - which underwent 21h of SD and 3h of sleep for 15days either before or after the allograft respectively. INTERVENTIONS: The skin allograft was inspected daily to determine the survival time, expected as 8.0±0.4days in this transplant model under no treatment. The sleep pattern was controlled throughout the rejection process in the SD and SR groups. Draining lymph nodes, spleen, blood and skin grafts were harvested on the 5th day after transplantation for evaluation of the immune parameters related to allograft rejection. MEASUREMENTS AND RESULTS: In the control groups, we observed a reduction in paradoxical sleep throughout the entire allograft rejection process. Acute and chronic experimental sleep loss in the SD and SR groups produced marked alterations in the immune response. Both SD and SR prolonged allograft survival compared to the non-sleep-deprived group. There were reductions in the following parameters involved in the allograft rejection under sleep loss: CD4+ and CD8+ T cell subpopulations in the peripheral lymph organs and spleen, circulating sIL-2R levels, graft-infiltrating CD4+ T cells and skin allograft global gene expression. CONCLUSIONS: We provide, as far as we are aware, the first evidence in vivo that the immune response can alter the normal sleep pattern, and that sleep loss can conversely affect the immune response related to graft rejection.

Pre-participation gynecological evaluation of female athletes: a new proposal / Avaliação ginecológica pré-participação da mulher atleta: uma nova proposta

Objective To propose the inclusion of a gynecological investigation during the evaluation of athletes before competitions, using a specific instrument called the Pre-participation Gynecological Examination (PPGE). Methods The study assessed 148 athletes, mean age of 15.4±2.0 years, who engaged in eight different sports modalities, and who responded to a questionnaire named Pre-Participation Gynecological Examination (PPGE), to the International Consultation on Incontinence Questionnaire - Short Form (for urinary loss), and to the Eating Attitudes Test (for eating disorders). Results Fifty percent of the participants reported irregular menstrual intervals, 23.0% did not know about sexually transmitted diseases, and 72.4% denied having, at least, an annual gynecological appointment. The study identified 18.2% who had urinary loss, and 15% presented with an increased risk of eating disorders. Moreover, 89.9% were not familiar with the occurrence of urinary incontinence in athletes and did not know that they were susceptible to the female athlete triad. A total of 87.1% of them stated that would not mention these issues to their coaches even if this would improve their health or performance. Conclusion The Pre-Participation Gynecological Examination can be considered an easy-to-apply instrument that allowed the diagnosis of alterations often underestimated by the athletes themselves. After its application, the alterations were identified, and determined the athletes’ referral to appropriate evaluation and treatment. .

Objetivo Propor a inclusão da investigação ginecológica durante a avaliação pré-participação de mulheres praticantes de exercício físico, por meio de um instrumento específico, denominado Pre-Participation Gynecological Examination (PPGE). Métodos Foram avaliadas 148 atletas com média de idade de 15,4±2,0 anos, participantes de oito diferentes modalidades esportivas, que responderam ao Pre-Participation Gynecological Examination, ao International Consultation on Incontinence Questionnaire - Short Form (para avaliar perda urinária) e ao Eating Attitudes Test (para avaliar alterações alimentares). Resultados Cinquenta por cento das atletas referiram irregularidade menstrual, 23% desconheciam as doenças sexualmente transmissíveis e 72,4% negaram acompanhamento ginecológico, no mínimo, anual. Foram identificados 18,2% de mulheres com perda urinária e 15% de maior risco de alterações alimentares. Além disso, 89,9% desconheciam a existência de incontinência urinária em atletas ou o fato de estarem suscetíveis à tríade da mulher atleta. Entre elas, ainda, 87,1% afirmaram não se referirem a seus técnicos sobre as questões ginecológicas, mesmo que isso pudesse melhorar sua saúde e seu desempenho. Conclusão O questionário Pre-Participation Gynecological Examination mostrou-se um instrumento de fácil aplicabilidade e permitiu o diagnóstico de alterações por vezes não valorizadas pelas próprias atletas. Após a aplicação do questionário, as alterações puderam ser identificadas, determinando o encaminhamento ...

Human longevity is associated with regular sleep patterns, maintenance of slow wave sleep, and favorable lipid profile.

Some individuals are able to successfully reach very old ages, reflecting higher adaptation against age-associated effects. Sleep is one of the processes deeply affected by aging; however few studies evaluating sleep in long-lived individuals (aged over 85) have been reported to date. The aim of this study was to characterize the sleep patterns and biochemical profile of oldest old individuals (N = 10, age 85-105 years old) and compare them to young adults (N = 15, age 20-30 years old) and older adults (N = 13, age 60-70 years old). All subjects underwent full-night polysomnography, 1-week of actigraphic recording and peripheral blood collection. Sleep electroencephalogram spectral analysis was also performed. The oldest old individuals showed lower sleep efficiency and REM sleep when compared to the older adults, while stage N3 percentage and delta power were similar across the groups. Oldest old individuals maintained strictly regular sleep-wake schedules and also presented higher HDL-cholesterol and lower triglyceride levels than older adults. The present study revealed novel data regarding specific sleep patterns and maintenance of slow wave sleep in the oldest old group. Taken together with the favorable lipid profile, these results contribute with evidence to the importance of sleep and lipid metabolism regulation in the maintenance of longevity in humans.

Brain-derived neurotrophic factor gene polymorphism predicts interindividual variation in the sleep electroencephalogram.

Previous studies have suggested that brain-derived neurotrophic factor (BDNF) participates in the homeostatic regulation of sleep. The objective of this study was to investigate the influence of the Val66Met functional polymorphism of the BDNF gene on sleep and sleep EEG parameters in a large population-based sample. In total 337 individuals participating in the São Paulo Epidemiologic Sleep Study were selected for analysis. None of the participants had indications of a sleep disorder, as measured by full-night polysomnography and questionnaire. Spectral analysis of the EEG was carried out in all individuals using fast Fourier transformation of the oscillatory signals for each EEG electrode. Sleep and sleep EEG parameters in individuals with the Val/Val genotype were compared with those in Met carriers (Val/Met and Met/Met genotypes). After correction for multiple comparisons and for potential confounding factors, Met carriers showed decreased spectral power in the alpha band in stage one and decreased theta power in stages two and three of nonrapid-eye-movement sleep, at the central recording electrode. No significant influence on sleep macrostructure was observed among the genotype groups. Thus, the Val66Met polymorphism seems to modulate the electrical activity of the brain, predicting interindividual variation of sleep EEG parameters. Further studies of this and other polymorphic variants in potential candidate genes will help the characterization of the molecular basis of sleep.

The effects of sleep deprivation on microRNA expression in rats submitted to pilocarpine-induced status epilepticus.

Epilepsy is a neurological disorder with significant prevalence and the individuals affected by this disease have a great probability of occurrence of a lethal phenomenon known as Sudden Unexpected Death in Epilepsy (SUDEP). SUDEP occurs mainly during the night and probably during sleep. The pathophysiological mechanisms involved in this lethal phenomenon are still obscure and new evidences that could corroborate in this area are warranted. Thus, the aim of the present study was to evaluate the effect of sleep deprivation in the expression of microRNA (miRNA) in the frontal cortex and heart tissues of adult male rats after 50days of saline (SAL) or pilocarpine-induced status epilepticus (PILO). Initially 389 miRNA expressions were evaluated between SAL and PILO groups by microarray. Subsequently, 3 differentially expressed miRNAs of each tissue were investigated after total sleep deprivation (TSD 6h) and paradoxical sleep deprivation (PSD 24h). Still, it was analyzed that the effects of sleep rebound with equivalent duration of PSD and TSD. There was a significant increase of miR-146a expression, an important inflammatory modulator in the frontal cortex of PILO rats when compared to SAL animals. Animals treated with pilocarpine were affected by TSD (through overexpression of miRNAs related to inflammatory process) and these changes were maintained even after a sleep window of 6h. In contrast, miRNAs associated with heart diseases were down-regulated in PSD rebound, suggesting a possible restoration of homeostasis in cardiovascular system of SAL and PILO groups.

Serotonin-1A receptor CC genotype is associated with persistent depression related to interferon-alpha in hepatitis C patients.

OBJECTIVE: The aim of this study is to investigate the development of depression during interferon-alpha (IFN-α) therapy and the variations in the expression of the serotonin receptor (5-HTR) and transporter (5-HTT) in hepatitis C patients. METHOD: Hepatitis C patients (n=277) were given the Mini International Neuropsychiatric Interview at the end of IFN-α therapy. Three polymorphisms were genotyped: the serotonin transporter repeat length polymorphic region [5-HTT gene-linked polymorphic region (5-HTTLPR)], as well as SNPs rs25531 and rs6295, located within the 5-HTTLPR and the transcriptional control region of the 5-HTR1A gene, respectively. RESULTS: The diagnosis of current depression, which was associated with IFN-α-related depression (P<.001), demonstrated a statistically significant association with the CC genotype of the 5-HTR1A gene (odds ratio=5.57, 95% confidence interval=1.61-19.24, P=.007). CONCLUSIONS: Persistent depression may represent a more specific type of IFN-α-related psychopathology. Future studies need to investigate the genetic risk factors for vulnerability associated with persistent depression. Limitations, such as the study's cross-sectional design, small sample size and retrospective assessment of IFN-α-induced depression diagnosis, must be taken into account while interpreting the results found in this study.

Pre-participation gynecological evaluation of female athletes: a new proposal.

OBJECTIVE: To propose the inclusion of a gynecological investigation during the evaluation of athletes before competitions, using a specific instrument called the Pre-participation Gynecological Examination (PPGE). METHODS: The study assessed 148 athletes, mean age of 15.4±2.0 years, who engaged in eight different sports modalities, and who responded to a questionnaire named Pre-Participation Gynecological Examination (PPGE), to the International Consultation on Incontinence Questionnaire - Short Form (for urinary loss), and to the Eating Attitudes Test (for eating disorders). RESULTS: Fifty percent of the participants reported irregular menstrual intervals, 23.0% did not know about sexually transmitted diseases, and 72.4% denied having, at least, an annual gynecological appointment. The study identified 18.2% who had urinary loss, and 15% presented with an increased risk of eating disorders. Moreover, 89.9% were not familiar with the occurrence of urinary incontinence in athletes and did not know that they were susceptible to the female athlete triad. A total of 87.1% of them stated that would not mention these issues to their coaches even if this would improve their health or performance. CONCLUSION: The Pre-Participation Gynecological Examination can be considered an easy-to-apply instrument that allowed the diagnosis of alterations often underestimated by the athletes themselves. After its application, the alterations were identified, and determined the athletes' referral to appropriate evaluation and treatment.

Butyrylcholinesterase genetic variants: association with cocaine dependence and related phenotypes.

OBJECTIVE: The search for genetic vulnerability factors in cocaine dependence has focused on the role that neuroplasticity plays in addiction. However, like many other drugs, the ability of an individual to metabolize cocaine can also influence susceptibility to dependence. Butyrylcholinesterase (BChE) metabolizes cocaine, and genetic variants of the BChE gene (BCHE) alter its catalytic activity. Therefore, we hypothesize that cocaine users with polymorphisms in BCHE can show diverse addictive behaviors due to differences in effective plasma concentrations of cocaine. Those polymorphisms might also influence users to prefer one of the two main preparations (crack or powder cocaine), despite having equal access to both. The present work investigates polymorphisms in BCHE and if those genetic variants constitute risk factors for cocaine dependence and for crack cocaine use. METHODS: A total of 1,436 individuals (698 cocaine-dependent patients and 738 controls) were genotyped for three single nucleotide polymorphisms (SNPs) in BCHE: rs1803274, rs4263329, and rs4680662. RESULTS: For rs4263329, a nominal difference was found between cases and controls. For rs1803274 (the functional SNP), a statistically significant difference was found between patients who used crack cocaine exclusively and those who used only powder cocaine (P = 0.027; OR = 4.36; 95% CI = 1.18-16.04). Allele frequencies and genotypes related to other markers did not differ between cases and controls or between the two cocaine subgroups. CONCLUSIONS: Our findings suggest that the AA genotype of rs1803274 is a risk factor for crack cocaine use, which is more addictive than powder cocaine use. Further studies are needed in order to confirm this preliminary result and clarify the role of BCHE and its variants in cocaine dependence.

Whole blood hypoxia-related gene expression reveals novel pathways to obstructive sleep apnea in humans.

In this study, our goal was to identify the key genes that are associated with obstructive sleep apnea (OSA). Thirty-five volunteers underwent full in-lab polysomnography and, according to the sleep apnea hypopnea index (AHI), were classified into control, mild-to-moderate OSA and severe OSA groups. Severe OSA patients were assigned to participate in a continuous positive airway pressure (CPAP) protocol for 6 months. Blood was collected and the expression of 84 genes analyzed using the RT(2) Profiler™ PCR array. Mild-to-moderate OSA patients demonstrated down-regulation of 2 genes associated with induction of apoptosis, while a total of 13 genes were identified in severe OSA patients. After controlling for body mass index, PRPF40A and PLOD3 gene expressions were strongly and independently associated with AHI scores. This research protocol highlights a number of molecular targets that might help the development of novel therapeutic strategies.

Association between uric acid levels and obstructive sleep apnea syndrome in a large epidemiological sample.

INTRODUCTION: Recurrent hypoxia, which is associated with obstructive sleep apnea syndrome (OSAS), leads to an increase in the degradation of adenosine triphosphatase into xanthine, which in turn increases uric acid concentrations. OBJECTIVE: The current study aimed to determine whether an association exists between OSAS and uric acid levels in the peripheral blood from a representative population of Sao Paulo (Brazil). METHODS: A population-based survey adopting a probabilistic 3-stage cluster sample of Sao Paulo was used to represent the population according to gender, age, and socioeconomic class. A total of 1,042 volunteers underwent polysomnography recordings for OSAS diagnosis, blood pressure assessment, and biochemical blood analysis, and answered questionnaires. RESULTS: Uric acid levels were correlated with most important risk factors for OSAS, such as AHI, desaturation time and index, minimum oxyhemoglobin saturation (SpO2), blood pressure, cholesterol, BMI, triglycerides and arousal, and with OSAS itself. Also, uric acid was increased in OSAS volunteers even after controlling for all confounders. Hyperuricemic volunteers presented lower mean and minimum SpO2 and increased desaturation index. Importantly, minimum SpO2 was a significant predictor of uric acid levels, which in turn was considered an independent predictor for OSAS in the binary logistic model. However, a ROC curve analysis for establishing cut-off points for uric acid levels as a biomarker of OSAS revealed moderate sensitivity and specificity. CONCLUSION: A strong association was found between uric acid levels and OSAS in a representative sample of the population of Sao Paulo. Although they do not qualify for a biomarker alone, uric acid levels may be involved in OSAS severity and should be considered in sleep apnea management in the future.

The human leucocyte antigen DQB1*0602 allele is associated with electroencephelograph differences in individuals with obstructive sleep apnoea syndrome.

Human leucocyte antigen (HLA) DQB1*0602 allele, a well-known genetic risk factor for narcolepsy, has been associated with sleep parameters in healthy subjects. We aimed to assess the association of this allele with daytime sleepiness and altered sleep electroencephalogram characteristics in the general population and in patients with obstructive sleep apnoea syndrome (OSAS). Eight hundred and ninety-four individuals from the Epidemiologic Study of Sleep were genotyped for the HLA DQB1*0602 allele. Full-night polysomnography was performed, and daytime sleepiness was analysed according to the Epworth Sleepiness Scale. HLA-DQB1*0602 allele-positive and -negative subjects in the general population, as well as in patients with OSAS, exhibited similar sleep parameters and levels of daytime sleepiness. However, spectral analysis showed that allele-positive individuals with OSAS exhibited higher theta power during sleep Stage 1 (P < 0.05) in occipital derivations, and lower delta power during sleep Stages 1 and 2 (P < 0.01) compared with individuals negative for the allele, even after correction for potential confounders as age, sex, body mass index and European ancestry. No significant differences in the electroencephalogram variables were found in individuals without OSAS. The data highlight the HLA-DQB1*0602 as a potential genetic factor influencing sleep physiology in individuals diagnosed with OSAS.

Adenosine deaminase polymorphism affects sleep EEG spectral power in a large epidemiological sample.

Slow wave oscillations in the electroencephalogram (EEG) during sleep may reflect both sleep need and intensity, which are implied in homeostatic regulation. Adenosine is strongly implicated in sleep homeostasis, and a single nucleotide polymorphism in the adenosine deaminase gene (ADA G22A) has been associated with deeper and more efficient sleep. The present study verified the association between the ADA G22A polymorphism and changes in sleep EEG spectral power (from C3-A2, C4-A1, O1-A2, and O2-A1 derivations) in the Epidemiologic Sleep Study (EPISONO) sample from São Paulo, Brazil. Eight-hundred individuals were subjected to full-night polysomnography and ADA G22A genotyping. Spectral analysis of the EEG was carried out in all individuals using fast Fourier transformation of the signals from each EEG electrode. The genotype groups were compared in the whole sample and in a subsample of 120 individuals matched according to ADA genotype for age, gender, body mass index, caffeine intake status, presence of sleep disturbance, and sleep-disturbing medication. When compared with homozygous GG genotype carriers, A allele carriers showed higher delta spectral power in Stage 1 and Stages 3+4 of sleep, and increased theta spectral power in Stages 1, 2 and REM sleep. These changes were seen both in the whole sample and in the matched subset. The higher EEG spectral power indicates that the sleep of individuals carrying the A allele may be more intense. Therefore, this polymorphism may be an important source of variation in sleep homeostasis in humans, through modulation of specific components of the sleep EEG.

Prevalence and correlates for sleep complaints in older adults in low and middle income countries: a 10/66 Dementia Research Group study.

BACKGROUND: Although it is well recognized that the prevalence of sleep complaints increases with age, estimates in developing countries are still unknown. The present study aims to estimate the prevalence and prevalence ratios of the correlates of sleep complaints in a large population of older adults from low and middle income countries (LAMICs). METHODS: A cross-sectional survey was performed in 16,680 65 year-old or older residents in catchment areas of Cuba, the Dominican Republic, Peru, Venezuela, Mexico, China, India, and Puerto Rico (10/66 Dementia Research Group study). Information about socio-demographic factors, lifestyle, health, and sleep complaints was obtained. Results were standardized by age, sex, household clustering, and residence site (urban or rural). Prevalence ratios were derived for each country and fixed effects meta-analyses were used to combine them. RESULTS: The standardized prevalence of sleep complaints varied from 9.1% (China) to 37.7% (India). The meta-analysis showed that female gender, urban residence, low educational level, low physical activity status, high pain scores, poor health, higher memory impairment score, presence of major depression, mild cognitive impairment, and high number of co-morbidities were associated with sleep complaints. CONCLUSIONS: This study robustly characterized the prevalence of sleep complaints in large samples of the elderly in LAMICs and identified potential risk factors that may be specific to these populations. This approach can help to direct health-care efforts related to sleep disturbances in these countries.

Genetics of erectile dysfunction: a review of the interface between sex and molecular biomarkers.

INTRODUCTION: In recent years, new tools for the study of molecular biology and genetics have resulted in significant contributions to the scientific community. The potential use of genetic variations as biomarkers in the management of current and future conditions is generating considerable excitement in health care for disorders such as erectile dysfunction (ED). AIM: This review briefly describes the molecular and genetic mechanisms involved in ED and provides an overall view of the literature relevant to possible relationships between genetic factors and ED. METHODS: This is a narrative review of studies on the potential influence of polymorphisms on the risk of developing ED. MAIN OUTCOME MEASURE: We reviewed genetic association studies involving polymorphisms and the ED phenotype. RESULTS: There is growing evidence for the influence of genetic polymorphisms on the risk of ED and on the interindividual variability in sildenafil treatment. CONCLUSIONS: Although this field is still in its infancy, genetic association studies aimed at defining a molecular basis for ED have provided some important evidence that a patient's genotype may be used in the future to assess risk, as well as to plan treatment and prevention programs in the clinic.

Lack of association of indoleamine 2,3-dioxygenase polymorphisms with interferon-alpha-related depression in hepatitis C.

BACKGROUND: Major depression is a frequent adverse effect of interferon-alpha (IFN-α) therapy. Although the indoleamine 2,3-dioxygenase (IDO) enzyme seems to be involved in the pathophysiology of IFN-α-induced depression, no pharmacogenetic study has investigated whether variation in the IDO gene modifies vulnerability to this adverse effect. METHODS: A cross-sectional study assessing 277 hepatitis C patients recruited in two specialized outpatient clinics of Brazil. They were interviewed with the Mini International Neuropsychiatric Interview (MINI) approximately 1 month after the end of IFN-α plus ribavirin therapy. Genomic DNA of individuals was extracted from venous blood. Three IDO single-nucleotide polymorphisms (SNPs) were genotyped (rs3824259; rs10089084 and rs35099072). RESULTS: MINI indicated that 21.3% of the sample met criteria for a major depressive episode during the course of IFN-α therapy. No association with the diagnosis of a major depressive episode during the course of IFN-α therapy was observed genotype or allele-wise (p>0.05). Current major depression and/or current anxiety disorder was significantly associated with IFN-α-related depression (p<0.005). However, gender, age, route of infection, result of the antiviral treatment, past history of substance use disorders, depression or any other psychiatric disorder showed no association with IFN-α-related depression (p>0.05). CONCLUSIONS: Our results suggest no influence of the variants in the IDO gene and the diagnosis of interferon-α-related depression in the Brazilian population. Interferon-α-related depression may impose persistent psychopathology on at least 15% of the depressed patients even 2 years after antiviral therapy termination. The cross-sectional design is a limitation of our study, predisposing memory bias. Prospective pharmacogenetic studies are warranted to continue investigation of the impact of IDO polymorphisms on the development of IFN-α-induced depression.

Effects of the adenosine deaminase polymorphism and caffeine intake on sleep parameters in a large population sample.

STUDY OBJECTIVES: To evaluate the association between the adenosine deaminase polymorphism, sleep architecture, and caffeine consumption. DESIGNS: Genetic association study. SETTING: NA. PATIENTS OR PARTICIPANTS: 958 participants who underwent polysomnography and genotyping. INTERVENTIONS: NA. MEASUREMENTS AND RESULTS: Individuals carrying the A allele who consumed caffeine in the day prior to polysomnography demonstrated higher sleep efficiency and REM sleep percentage, after adjustment for potential confounders. No effect was observed in the absence of caffeine. CONCLUSIONS: Our data support the role of the ADA G22A polymorphism in sleep, and demonstrate for the first time that caffeine may act as a modulator of its functional effects. CLINICAL TRIAL INFORMATION: Name: Epidemiology of sleep disturbances among adult population of the Sao Paulo City. URL: http://www.clinicaltrials.gov/ct2/show/NCT00596713?term=NCT00596713&rank=1. Number: NCT00596713

Androgen receptor CAG repeat polymorphism is not associated with erectile dysfunction complaints, gonadal steroids, and sleep parameters: data from a population-based survey.

Erectile dysfunction (ED) can be affected by androgen levels, which exert their action through the androgen receptor (AR). Androgenic action has been demonstrated to inversely correlate with a polymorphic trinucleotide CAG repeat region in the AR gene. We conducted an epidemiologic study to determine the potential association between the CAG repeat polymorphism of the AR gene and ED complaints, gonadal steroids, and sleep parameters in a large population-based sample in São Paulo, Brazil. AR CAG repeat was genotyped in 79 men with ED complaints and in 340 controls. Sleep and hormonal profiles were measured in all men. There was no association between the AR CAG repeat polymorphism and ED complaints. Moreover, there was no significant correlation among free and total testosterone, estradiol, follicle-stimulating hormone, and luteinizing hormone levels, as well as sleep parameters with the CAG repeat length, when evaluating the population as a whole, as well as subdivided into ED and control groups independently. The results were not affected when the data were analyzed in quartiles, divided by the median of the sample, or after correction for population stratification. AR CAG repeat polymorphism is not associated with ED complaints, gonadal steroids, and sleep parameters in men from a population-based sample in Brazil.

Hormonal profile, the PROGINS polymorphism, and erectile dysfunction complaints: data from a population-based survey.

OBJECTIVE: To evaluate a potential association among the hormonal profile, PROGINS polymorphism, and erectile dysfunction (ED) complaints in a large population-based sample in Sao Paulo, Brazil. DESIGN: Population-based questionnaire study. SETTING: Interviews, sleep recording, and blood sample were conducted in a sleep institute. PATIENT(S): The total study participants included 467 men. INTERVENTION(S): General information was obtained through interviews, and a blood sample was collected for hormone levels, DNA extraction, and PROGINS genotyping. MAIN OUTCOME MEASURE(S): The effect of progesterone and the PROGINS polymorphism on the risk of developing ED were measured by questionnaire and blood sample. RESULT(S): Progesterone, prolactin, testosterone, and estradiol levels did not differ between the genotype groups (T1/T1 and T1/T2+T2/T2). No significant genotypic or allelic differences were found between individuals with ED complaints and controls. Multivariate logistic regression analyses including age, body mass index, hypertension, diabetes, apnea-hypopnea index, and genetic ancestry estimation, as well as the PROGINS polymorphism, confirmed the lack of association between the T2 allele carriers and the risk of ED (odds ratio = 0.80; 95% confidence interval = 0.40-1.62). CONCLUSION(S): This is the first study to demonstrate the genotypic and allelic frequencies of the PROGINS polymorphism in a large population-based sample of men. The results do not support a direct role for the PROGINS polymorphism in the risk of developing ED; however, further examination of other variants within PR gene will be necessary to completely rule out an effect.