Resumen: Introducción: La hipertensión arterial sistémica (HAS) es un factor de riesgo de enfermedades cardiovasculares, las primeras causas de mortalidad mundial. En la génesis de la HAS se entrelazan fenotipos hipertensivos y rasgos del estilo de vida. La presión arterial sistólica aumenta con la edad y la HAS es frecuente en edades avanzadas. Esta minirrevisión describe los valores promedio de la presión arterial (PA) poblacional y la prevalencia de la HAS en las comunidades de cazadores-pescadores y recolectores actuales. Material y métodos: Se analizaron los datos de los valores de PA y la prevalencia de HAS de comunidades contemporáneas de cazadores-pescadores y recolectores en diferentes bases de datos. Resultados: Dieciséis artículos fueron seleccionados de estudios de tribus de América del Sur y Central, África y Asia. Las comunidades con poca o nula influencia civilizatoria moderna tuvieron cifras de PA bajas, independientemente del género y la edad. La prevalencia de la HAS varió entre 0 y 10%, con pocas excepciones. La asimilación cultural modificó este patrón. El concepto de que la HAS, especialmente la de tipo sistólica aislada que afecta a los ancianos, es una consecuencia inevitable de la edad, parece insostenible de acuerdo con estos datos. Conclusión: La HAS no está fatalmente ligada a la edad, sino que es el resultado de la relación entre la herencia y el ambiente, consecuencia del estilo de vida poco saludable relacionado a la civilización. Este hecho refuerza la importancia de las estrategias conductuales que promueven una mejor salud cardiovascular y metabólica.

Abstract: Introduction: High blood pressure (HBP) is a risk factor for cardiovascular diseases, the leading cause of mortality worldwide. HBP intertwines hypertensive phenotypes and lifestyle traits. Systolic blood pressure rises with age, and HBP is frequent in older ages. This minireview describes the population mean blood pressure (BP) and the prevalence of HBP in communities of fishing-hunting and gathering individuals. Material and methods: The data on BP values or HBP prevalence were analyzed in different databases from contemporary studies on hunters-fishers and gatherers communities. Results: Sixteen articles were selected from tribes of Central and South America, Africa, and Asia. Communities with little or no influence from modern civilization showed low BP values, regardless of gender or age. HBP prevalence was in most of them between 0 and 10%, with few exceptions. Acculturation changes this BP pattern. The concept that HBP, especially the isolated systolic HBP that affects the elderly, is an inevitable consequence of age seems unsustainable considering these data. Conclusion: High blood pressure (HBP) is not fatally linked to aging but results from the relationship between heredity and environment, a consequence of an unhealthy lifestyle related to civilization. This fact emphasizes the role of behavioral strategies in promoting better metabolic and cardiovascular health.

Serotonin 2C receptors (5HT2C) are involved in serotonin-driven dynamic equilibrium adjustments responsible for homeostatic stability in brain structures that modulate behavior and emotions. Single nucleotide polymorphisms (SNPs) from the serotonin 2C receptor gene (HTR2C) have been associated with several neurological and mental disorders, including abnormalities in cognitive and emotional processes. The aim of this study was to evaluate the association between the rs6318 SNP of the HTR2C gene and behavioral characteristics exhibited by children and adolescents based on the Child Behavior Checklist (CBCL/6-18) inventory. Eighty-five psychiatric outpatients between 8 and 18 years of age underwent genotyping of the rs6318 SNP. The CBCL/6-18 scale was administered to their caregivers. The chi-squared test was used to assess differences in the frequency of C and G alleles of the rs6318 SNP relative to the grouped CBCL/6-18 scores; significance level was 5%. The presence of the G allele of rs6318 was found to be associated with characteristics of aggressive behavior and social problems, and aggressive behavior was found to be associated with heterozygosis in females. These findings contribute to the identification of mental and behavioral phenotypes associated with gene expression.

Abstract Newly hatched caterpillars of the butterfly Heliconius erato phyllis routinely cannibalize eggs. In a manifestation of kin recognition they cannibalize sibling eggs less frequently than unrelated eggs. Previous work has estimated the heritability of kin recognition in H. erato phyllis to lie between 14 and 48%. It has furthermore been shown that the inheritance of kin recognition is compatible with a quantitative model with a threshold. Here we present the results of a preliminary study, in which we tested for associations between behavioral kin recognition phenotypes and AFLP and SSR markers. We implemented two experimental approaches: (1) a cannibalism test using sibling eggs only, which allowed for only two behavioral outcomes (cannibal and non-cannibal), and (2) a cannibalism test using two sibling eggs and one unrelated egg, which allowed four outcomes [cannibal who does not recognize siblings, cannibal who recognizes siblings, “super-cannibal” (cannibal of both eggs), and “super non-cannibal” (does not cannibalize eggs at all)]. Single-marker analyses were performed using χ2 tests and logistic regression with null markers as covariates. Results of the χ2 tests identified 72 associations for experimental design 1 and 73 associations for design 2. Logistic regression analysis of the markers found to be significant in the χ2 test resulted in 20 associations for design 1 and 11 associations for design 2. Experiment 2 identified markers that were more frequently present or absent in cannibals who recognize siblings and super non-cannibals; i.e. in both phenotypes capable of kin recognition.

RESUMO OBJETIVO Realizar uma revisão sistemática da literatura sobre os estudos de neuroimagem da demência frontotemporal (DFT) e esclerose lateral amiotrófica (ELA), associadas à mutação C9ORF72. Métodos A pesquisa foi realizada nas bases PubMed e LILACS com os seguintes termos:C9ORF72, MRI, SPECT, PET, ALS, FTD. Nenhum filtro foi utilizado. RESULTADOS Vinte artigos foram incluídos. A maioria dos estudos encontrou, nos portadores da expansão C9ORF72, envolvimento significativo das regiões frontotemporais, incluindo o córtex pré-frontal e também o cíngulo, regiões subcorticais (especialmente o tálamo) e regiões posteriores, como os lobos parietal e occipital. A conectividade funcional também foi investigada e disfunção sensório-motora foi demonstrada no estriado e no tálamo em pacientes com a variante comportamental da DFT associada à expansão C9ORF72. Alguns trabalhos não evidenciaram alterações significativas na neuroimagem. CONCLUSÃO A inclusão de pacientes em diferentes estágios da doença, a variabilidade dos métodos de neuroimagem utilizados nos estudos e os distintos fenótipos de C9ORF72 podem contribuir para a heterogeneidade dos resultados.

ABSTRACT OBJECTIVE: To perform a systematic review of the literature on the neuroimaging investigation of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) associated with C9ORF72 mutation. METHODS: The search was performed on PubMed and LILACS with the following terms:C9ORF72, MRI, SPECT, PET, ALS, FTD. No filters were added. RESULTS Twenty articles were selected. Most studies found consistent involvement of frontotemporal regions in C9ORF72 carriers, including prefrontal cortex, and also cingulate, subcortical regions, especially the thalami, and posterior regions such as the parietal and occipital lobes. Functional connectivity was also explored and impaired sensorimotor connectivity in striatum and thalami was found in behavioral variant FTDC9ORF72 carriers. Some papers have reported an absence of significant abnormalities on brain imaging. CONCLUSION The inclusion of patients at different stages of the disease, differences in neuroimaging methods across studies, and distinct clinical phenotypes associated with C9ORF72 may account for the heterogeneity of results.

Early maturity during tilapia culture is a recurring problem. To avoid this, a series of techniques have been developed, including the production of YY-males. This technique involves the use of hormones to produce phenotypic females (XY genotype). However, incomplete transformations are frequently observed and the produced atypical feminized males (AFM) could display an ambiguity in the phenotypic expression of behavioral patterns. The aim of this study was to measure the frequency and intensity of aggressive behavior as well as the role that initial residence plays when involving three phenotypes (males, females and AFM). The experiment consisted of three stages. Resident fish were AFM in the first stage, males in the second and females in the third. In each stage the resident fish confronted males, females and AFM acting as intruders. Aggressive behavior was exercised more frequently by resident fish. Intersexual confrontations showed higher levels of aggression compared to intrasexual confrontations. The frequency of confrontations was not significantly different in confrontations involving AFM, however, differences were observed in intensity of aggression. It is possible that an incomplete transformation at physiological level could be responsible for an inaccurate decoding of signal during confrontations.

La madurez temprana durante el cultivo de tilapia es un problema recurrente. Para evitarlo, existe una serie de técnicas, incluyendo la producción de machos-YY. Esta técnica implica el uso de hormonas para producir hembras fenotípicas (genotipo XY). Sin embargo, son frecuentes transformaciones incompletas y los machos feminizados atípicos (MFA) producidos podrían mostrar ambigüedad en la expresión fenotípica de los patrones de comportamiento. El objetivo del presente trabajo fue determinar la frecuencia e intensidad del comportamiento agresivo, así como el papel que juega la residencia inicial al involucrar tres fenotipos (machos, hembras y MFA). El experimento abarcó tres etapas. En la primera etapa, MFA actuaron como residentes, en la segunda machos, y en la tercera, hembras. En cada etapa el residente enfrentó a machos, hembras y MFA que actuaron como intrusos. El comportamiento agresivo lo ejercieron con mayor frecuencia los peces residentes. Las confrontaciones intersexuales mostraron mayores niveles de agresión en comparación con las intrasexuales. La frecuencia de confrontaciones no fue significativamente diferente en confrontaciones que incluyeron MFA, sin embargo, se observaron diferencias en la intensidad de la agresión. Es posible que una transformación incompleta a nivel fisiológico pueda ser responsable de una decodificación incorrecta de señales durante las confrontaciones.

Many precise aspects of the etiology and pathophysiology of mental disorders are still unknown. Susceptibility to these disorders depends in part on variability in the genome sequence among individuals. The genotype, a given environment, a specific epigenetic profile and stochastic factors affect the phenotype, which includes body structures, physiological processes, and behavior. Since the access to the Central Nervous System is generally difficult and in most cases there are still no biological tests that necessarily contribute to diagnosis, psychiatric phenotypes are usually limited to clinical symptoms and functioning. Therefore, researchers are currently seeking alternatives to facilitate the identification of genetic risk factors. One strategy is to identify measurable biological, cognitive, and behavioral markers, intermediate phenotypes, or endophenotypes, which in the best case may be simpler than general psychiatric diagnoses, ideally with a precise biological meaning and a more direct relationship with the action of specific genes. Endophenotypes have been very useful in other fields of medicine. Currently, there are several proposed criteria and specifications for endophenotypes. Examples of possible types of endophenotypes or biomarkers, as well as treatment response phenotypes in some psychiatric disorders will be discussed in this review.

Aún se desconocen diversos aspectos de la etiología y fisiopatología de los trastornos mentales. La susceptibilidad a éstos depende en parte de la variabilidad en la secuencia genómica en las personas. El genotipo, un ambiente dado, un perfil epigenético específico y factores estocásticos afectan el fenotipo, el cual incluye estructuras corporales, procesos fisiológicos y conducta. Los fenotipos psiquiátricos generalmente se limitan al funcionamiento y a los síntomas clínicos, debido a que el acceso al Sistema Nervioso Central es complicado y en la mayoría de los casos no hay pruebas biológicas que necesariamente contribuyan al diagnóstico. Por esta razón, en la actualidad se buscan alternativas para facilitar la identificación de factores de riesgo de tipo genético. La identificación de marcadores biológicos, cognitivos o conductuales medibles, fenotipos intermedios o endofenotipos podría ser una de estas nuevas opciones. Estos marcadores podrían ser más simples que el diagnóstico psiquiátrico general, y de manera ideal tendrían un significado biológico preciso y una acción más directa en los genes. El empleo de endofenotipos ha sido útil en otras ramas de la medicina. Hasta ahora se han propuesto diversos criterios y especificaciones para los endofenotipos. En esta revisión se describirán posibles tipos de endofenotipos o biomarcadores, así como fenotipos relacionados con la respuesta farmacológica en algunos trastornos psiquiátricos.

Genetic diversity among breeds of cattle allows producers to select animals for specific environments or market conditions. Reproductive efficiency is a multi-component trait that is largely influenced by environmental influences such as health and nutritional status; however, there are clearly genetic components to reproductive efficiency, and breed differences in a number of indicator traits associated with fertility and cow productivity have been identified. Historical indicators of fertility include scrotal circumference, age at puberty, and postpartum interval. Both age at puberty and postpartum interval are laborious traits to collect in heifers and cows because they require many days of detection of behavioral estrus. In recent years, the addition of ultrasonography to management practices has allowed for the collection of female traits such as follicle diameter, antral follicle counts, and fetal age that are not as labor intensive. These additional diagnostic traits provide novel phenotypes for the identification of genetic markers of fertility and cow productivity, which would be the ultimate goal. Genetic markers of the number of follicles in the bovine ovary have the potential to identify heifers that will be highly productive cows. Furthermore, identifying and understanding the genes that control various reproductive traits and the response to stressors, such as temperature and nutrient availability, could improve production efficiency by improving management and breeding decisions in a wide range of production environments.

Introduction: Ring chromosomes are an uncommon chromosomal disorder characterized by loss of the ends of the chromosome followed by fusing of the two ends to form a circle. The phenotype and clinical characteristics of the patient show a direct relationship with which chromosome is involved and the amount of genetic material lost from the ends. This abnormality can even be present without having a clinical effect. However, ring chromosome 20 syndrome is characterized by mental retardation, behavioral disorders, dysmorphism, and refractory epilepsy involving various types of seizures. It is caused by changes at the 20q13 region of chromosome 20 and is the third type of epilepsy known to be of genetic origin. Case Report: Two female infants of 9 months of age presenting due to psychomotor retardation and dysmorphic features. Product of a monochorionic and monoamniotic twin pregnancy delivered by cesarean, both incubated for 24 days due to low birth weight; Twin 1, weighing 1,600 gm, presented a preauricular tag and café-au-lait spots on the legs; head raising at 7 months. Twin 2, weighing 1.570 gm; head raising at 6 months. The mother reports Twin 2 experienced hyperextension convulsions without causal diagnosis. Both otherwise present identical phenotypes with dolichocephaly, hypertelorism, narrow palpebral fissures with epicanthic folds. CT, echocardiogram, and ophthalmic exams normal for age. General hypotonia. Family history: Mother and father in second marriage, both 44 years of age, not consanguine. The mother has eight children by her first husband, and the father one child. Cytogenetic study of both showed a mosaic ring chromosome 20: 45,XX,-20/46,XX, r(20) in the 5% and 95% respectively of the metaphases analyzed. No previous reports of ring chromosome 20 in monozygotic twins appear in the literature. Discussion: The possible clinical implications are under discussion since the abnormality could compromise the two genes related to epileptic channelopathies (CHRNA4 and KCNQ2).

Introducción: El cromosoma en anillo es una infrecuente alteración cromosómica caracterizada por la delección del cromosoma en ambos extremos y su posterior ensamblaje en forma circular. El fenotipo y la clínica del paciente se hallan en relación directa con la cantidad de material genético perdido en los extremos así como el cromosoma involucrado, pudiendo incluso esta anomalía estar presente sin repercusión clínica. El síndrome del cromosoma 20 en anillo se caracteriza a su vez, por retraso mental, trastornos de conducta, dismorfias y epilepsia refractaria con crisis polimorfas, siendo el tercer tipo de epilepsia conocido de base genética localizado en el cromosoma 20, en el locus 20q13. Caso Clínico: Dos lactantes, de 9 meses de edad, que consultan por retraso psicomotor y rasgos dismórficos. Producto de un embarazo gemelar monocorial-monoamniotico, parto por cesárea, ambas ingresadas en incubadora por 24 días por bajo peso, Gemela 1: Peso:1.600 grs, presenta un mamelón preauricular y en las extremidades inferiores se visualizan manchas café con leche. Sostén cefálico a los 7 meses y Gemela 2: Peso: 1.570 grs. Sostén cefálico a los 6 meses. En ella la madre refiere crisis de hiperextensibilidad, sin diagnostico etiológico. Por lo demás el fenotipo de ambas es superponible: dolicocefalia, hipertelorismo, fisuras palpebrales estrechas con pliegues epicánticos. TAC, ecocardiograma y examen oftálmico normales para la edad. Hipotonía generalizada. Antecedentes familiares: madre y padre, casados en segundas nupcias, ambos de 44 años de edad, no consanguíneos. La madre tiene ocho hijos de su primera pareja y el padre un hijo. En el estudio citogenético de ambas se observó la presencia en mosaico de un cromosoma 20 en anillo: 45,XX,-20/46,XX,r(20) en el 5 % y 95% respectivamente de las metafases analizadas. Se desconoce reportes previos de ocurrencia del cromosoma 20 en anillo en gemelos monocigotos. Discusión: Se discuten las posibles implicancias clínicas, considerando que esta anormalidad podría comprometer a dos genes relacionados con canalopatías epilépticas (CHRNA4 y KCNQ2).