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BACKGROUND: Treatment in bipolar disorder (BD) is commonly applied as a multimodal therapy based on decision algorithms that lack an integrative understanding of molecular mechanisms or a biomarker associated clinical outcome measure. Pharmacogenetics/genomics study the individual genetic variation associated with drug response. This selective review of pharmacogenomics and pharmacogenomic testing (PGT) in BD will focus on candidate genes and genome wide association studies of pharmacokinetic drug metabolism and pharmacodynamic drug response/adverse event, and the potential role of decision support tools that incorporate multiple genotype/phenotype drug recommendations. MAIN BODY: We searched PubMed from January 2013 to May 2019, to identify studies reporting on BD and pharmacogenetics, pharmacogenomics and PGT. Studies were selected considering their contribution to the field. We summarize our findings in: targeted candidate genes of pharmacokinetic and pharmacodynamic pathways, genome-wide association studies and, PGT platforms, related to BD treatment. This field has grown from studies of metabolizing enzymes (i.e., pharmacokinetics) and drug transporters (i.e., pharmacodynamics), to untargeted investigations across the entire genome with the potential to merge genomic data with additional biological information. CONCLUSIONS: The complexity of BD genetics and, the heterogeneity in BD drug-related phenotypes, are important considerations for the design and interpretation of BD PGT. The clinical applicability of PGT in psychiatry is in its infancy and is far from reaching the robust impact it has in other medical disciplines. Nonetheless, promising findings are discovered with increasing frequency with remarkable relevance in neuroscience, pharmacology and biology.
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Study of human adaptation to extreme environments is important for understanding our cultural and genetic capacity for survival. The Pucuncho Basin in the southern Peruvian Andes contains the highest-altitude Pleistocene archaeological sites yet identified in the world, about 900 meters above confidently dated contemporary sites. The Pucuncho workshop site [4355 meters above sea level (masl)] includes two fishtail projectile points, which date to about 12.8 to 11.5 thousand years ago (ka). Cuncaicha rock shelter (4480 masl) has a robust, well-preserved, and well-dated occupation sequence spanning the past 12.4 thousand years (ky), with 21 dates older than 11.5 ka. Our results demonstrate that despite cold temperatures and low-oxygen conditions, hunter-gatherers colonized extreme high-altitude Andean environments in the Terminal Pleistocene, within about 2 ky of the initial entry of humans to South America.
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Aclimatação , Altitude , Arqueologia , Artefatos , Humanos , PeruRESUMO
INTRODUCTION AND HYPOTHESIS: Physiological and anatomical changes of pregnancy are risk factors for lower urinary tract symptoms (LUTS). This study aimed to evaluate the prevalence and risk factors for urinary incontinence (UI) in healthy pregnant women. METHODS: A cross-sectional study was conducted in pregnant Brazilian women who enrolled in the primary health-care system in Sao Jose do Rio Preto, Brazil. Face-to-face interview and completion of two-part questionnaire were administered and done which evaluated the presence of LUTS pre- and during pregnancy. The data were analyzed by logistic regression. RESULTS: Five hundred pregnant women were enrolled ranging from first to third trimester. LUTS present in 63.8% in these women; the main associated risk factors were multiparity and prepregnancy LUTS as well as smoking, constipation, and daily coffee intake. CONCLUSIONS: The prevalence of UI during pregnancy is high, highlighting the presence of the risk factors associated with UI during pregnancy.
Assuntos
Complicações na Gravidez/epidemiologia , Incontinência Urinária/epidemiologia , Adolescente , Adulto , Brasil , Estudos Transversais , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Prevalência , Estudos Prospectivos , Fatores de Risco , Inquéritos e Questionários , Adulto JovemRESUMO
PURPOSE: The purpose of this study was to propose a systematic teaching and learning strategy for Brazilian caregivers of children with neurogenic bladder dysfunction(NBD), by using an illustrated booklet written in Portuguese. DESIGN: Descriptive study. SUBJECTS AND SETTING: Caregivers of children requiring clean intermittent catheterization (CIC) were approached when attending the pediatric urology outpatient clinic of Hospital de Base in Sao Jose do Rio Preto city, Brazil. METHODS: After educational sessions, a supervised procedure was done, with the child's caregiver observing the technique. RESULTS: Twenty-three caregivers of children with NBD provided feedback on a CIC teaching booklet. The children were all cared for at the pediatric urology outpatient clinic of a teaching hospital in Sao Jose do Rio Preto city, Brazil. The booklet was evaluated as "excellent" concerning organization and the quality of the illustrations by the majority of the caregivers. All caregivers stated that they had developed the ability to perform CIC successfully; 61% evaluated their learning process as "excellent," whereas 39% evaluated it as "good." CONCLUSION: The booklet successfully reached the goals and now is implemented in orientations about CIC.