Cleft lip and palate: Understanding genetic and environmental influences

Clefts of the lip and/or palate (CLP) are common birth defects of complex etiology. CLP can occur in isolation or as part of a broad range of chromosomal, Mendelian, or teratogenic syndromes. Although there has been marked progress in identifying genetic and environmental triggers for syndromic CLP, the etiology of the more common non-syndromic (isolated) forms remains poorly characterized. Recently, using a combination of epidemiology, careful phenotyping, genome-wide association studies and analysis of animal models, several distinct genetic and environmental risk factors have been identified and confirmed for non-syndromic CLP. These findings have advanced our understanding of developmental biology and created new opportunities for clinical translation research

The contribution of environmental exposure to the etiology of autism spectrum disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition of heterogeneous etiology. While it is widely recognized that genetic and environmental factors and their interactions contribute to autism phenotypes, their precise causal mechanisms remain poorly understood. This article reviews our current understanding of environmental risk factors of ASD and their presumed adverse physiological mechanisms. It comprehensively maps the significance of parental age, teratogenic compounds, perinatal risks, medication, smoking and alcohol use, nutrition, vaccination, toxic exposures, as well as the role of extreme psychosocial factors. Further, we consider the role of potential protective factors such as folate and fatty acid intake. Evidence indicates an increased offspring vulnerability to ASD through advanced maternal and paternal age, valproate intake, toxic chemical exposure, maternal diabetes, enhanced steroidogenic activity, immune activation, and possibly altered zinc-copper cycles and treatment with selective serotonin reuptake inhibitors. Epidemiological studies demonstrate no evidence for vaccination posing an autism risk. It is concluded that future research needs to consider categorical autism, broader autism phenotypes, as well as autistic traits, and examine more homogenous autism variants by subgroup stratification. Our understanding of autism etiology could be advanced by research aimed at disentangling the causal and non-causal environmental effects, both founding and moderating, and gene-environment interplay using twin studies, longitudinal and experimental designs. The specificity of many environmental risks for ASD remains unknown and control of multiple confounders has been limited. Further understanding of the critical windows of neurodevelopmental vulnerability and investigating the fit of multiple hit and cumulative risk models are likely promising approaches in enhancing the understanding of role of environmental factors in the etiology of ASD.peerReviewe

Taxonomia e variação geográfica das espécies do gênero Alouatta Lacépède (Primates, Atelidae) no Brasil Taxonomy and geographic variation of species of the genus Alouatta Lacépède (Primates, Atelidae) in Brazil

Neste estudo analisou-se a variação geográfica e não-geográfica de táxons de bugios, gênero Alouatta Lacépède, 1799, que ocorrem no Brasil, com o objetivo de esclarecer a taxonomia do grupo. Para a análise morfológica, examinou-se um total de 1.286 espécimes mantidos em cinco museus brasileiros e dois norte-americanos. O material consistiu basicamente de peles, crânios e ossos hióides; esqueletos e espécimes preservados em via úmida foram escassos. O estudo se baseou na análise qualitativa dos complexos morfológicos em adição a 18 morfométicos do crânio e osso hióide. Antes das decisões taxonômicas, elaborou-se um estudo de variação geográfica, sexual, ontogenética e individual. Reconheceu-se 10 espécies de Alouatta ocorrendo no Brasil, sendo a maioria definida por caracteres discretos, porém diagnósticos. São elas: Alouatta caraya (Humboldt, 1812), A. fusca (Geoffroy Saint-Hilaire, 1812), A. clamitans Cabrera, 1940, A. belzebul (Linnaeus, 1766), A. discolor (Spix, 1823), A. ululata Elliot, 1912; A. juara (Linnaeus, 1766), A. macconnelli (Humboldt, 1812), A. puruensis Lönnberg, 1941 e A. nigerrima Lönnberg, 1941. Alouatta macconnelli e A. clamitans mostraram notável variação geográfica na coloração da pelagem e algumas variáveis morfométricas (polimorfismo) o que dificultou as definições e limites dos táxons. Alouatta belzebul apresentou variação em mosaico na coloração da pelagem. Alouatta ululata e A. puruensis foram definidas pela presença de dicromatismo sexual na pelagem, mas este caráter pode ser um artefato e necessita estudos adicionais para corroborar sua validade. Sinonimizou-se Alouatta belzebul mexianae Hagmann, 1908 com A. discolor; e a validade de Alouatta seniculus amazonica Lönnberg 1941, não foi considerada.<br>In this monograph, was studied non-geographic and geographic variation of taxa of Howling Monkeys, genus Alouatta Lacépède, 1799, occuring in Brazil, in order to solve the taxonomy of the group. For the morphological analysis, were examined a total of 1,286 specimens kept in five Brazilian and two North-American museums. The material consisted mostly of skin, skull and hyoid bone; skeleton or fluid-preserved specimens were scarse. The study was based on qualitative analysis of the morphological complexes in addition 18 morphometric characters of the skull and hyoid bone. Prior to making taxonomic decisions, was conducted a study of geographic, sexual, ontogenetic, and individual variation. Were recognized ten species of Alouatta occuring in Brazil and most of them were defined by discrete, but diagnostic characters. The species are: Alouatta caraya (Humboldt, 1812), A. fusca (Geoffroy Saint-Hilaire, 1812), A. clamitans Cabrera, 1940, A. belzebul (Linnaeus, 1766), A. discolor (Spix, 1823), A. ululata Elliot, 1912; A. juara (Linnaeus, 1766), A. macconnelli (Humboldt, 1812), A. puruensis Lönnberg, 1941, and A. nigerrima Lönnberg, 1941. Alouatta macconnelli and A. clamitans showed noticeable geographic variation on pelage coloration and some morphometric characters (polymorphism) difficulting their definition and geographic limits. Alouatta belzebul presented an accentuated geographic mosaic variation on coat coloration. Alouatta ululata and A. puruensis were defined in presenting sexual dicromism on pelage, but this character can be an artefate due the small sample and both taxa need further studies to confirm their validity. Alouatta belzebul mexianae Hagmann, 1908 was sinonimized with A. discolor; and the validity of Alouatta seniculus amazonica Lönnberg 1941 was not considered