Candidate gene analysis of femoral neck trabecular and cortical volumetric bone mineral density in older men.

In contrast to conventional dual-energy X-ray absorptiometry, quantitative computed tomography separately measures trabecular and cortical volumetric bone mineral density (vBMD). Little is known about the genetic variants associated with trabecular and cortical vBMD in humans, although both may be important for determining bone strength and osteoporotic risk. In the current analysis, we tested the hypothesis that there are genetic variants associated with trabecular and cortical vBMD at the femoral neck by genotyping 4608 tagging and potentially functional single-nucleotide polymorphisms (SNPs) in 383 bone metabolism candidate genes in 822 Caucasian men aged 65 years or older from the Osteoporotic Fractures in Men Study (MrOS). Promising SNP associations then were tested for replication in an additional 1155 men from the same study. We identified SNPs in five genes (IFNAR2, NFATC1, SMAD1, HOXA, and KLF10) that were robustly associated with cortical vBMD and SNPs in nine genes (APC, ATF2, BMP3, BMP7, FGF18, FLT1, TGFB3, THRB, and RUNX1) that were robustly associated with trabecular vBMD. There was no overlap between genes associated with cortical vBMD and trabecular vBMD. These findings identify novel genetic variants for cortical and trabecular vBMD and raise the possibility that some genetic loci may be unique for each bone compartment

The Lantern Vol. 42, No. 2, Spring 1976

• Cape Cod • Thoughts • Circle of Stone • Ursinus: A Collegiate Game for All Ages • Spring • And The Clown Sings • Tainted Dreams • The Funeral • With Apologies to Ken Nordeen • Curiosity • Crystaline Magical Hue • Time • The Stalemate • Back Porch Genocide • T-18 • Photo Album • Eunuchhttps://digitalcommons.ursinus.edu/lantern/1108/thumbnail.jp

Perfil hematológico e bioquímico de tamanduás-mirins (Tamandua tetradactyla) criados ex situ no Estado de Santa Catarina Brasil: Hematological and biochemical profiles of lesser anteaters (Tamandua tetradactyla) raised ex-situ in Santa Catarina State Brazil

O objetivo deste relato foi descrever os resultados do perfil hematológico e bioquímico de tamanduás-mirins (Tamandua tetradactyla) criados ex-situ. Foram relatados os resultados de exames de hemograma total e bioquímico sérico de nove tamanduás-mirins considerados sadios, segundo exame clínico, mantidos ex-situ em um zoológico na cidade de Penha-SC. Uma vez induzidos, com cloridrato de cetamina 10% (5mg/kg) e xilazina 10% (1mg/kg) os animais foram mantidos sob anestesia inalatória com isofluorano para realização da avaliação clínica, exames e coleta de sangue. Os animais variavam de jovens a adultos, sendo sete fêmeas e dois machos. Dentre os parâmetros avaliados do hemograma, foram considerados a contagem total de eritrócitos e leucócitos, o hematócrito, a concentração de hemoglobina, o volume corpuscular médio, a hemoglobina corpuscular média, a concentração de hemoglobina corpuscular média e a proteína plasmática total. A presença de hemoparasitos não foi relatada em nenhum dos indivíduos amostrados. Nos exames bioquímicos, foram analisados os parâmetros de enzimas hepáticas e renais. Os resultados obtidos, de hemograma total, leucograma total, função hepática e função renal pouco diferiram daqueles disponíveis na escassa literatura existente. Os intervalos nos parâmetros bioquímicos e hematológicos aqui apresentados não podem ser considerados como padrão para a espécie, a qual tem uma distribuição geográfica muito ampla. No entanto, podem servir como referência para tamanduá-mirim mantidos nas mesmas condições, ou seja, ex-situ e sob cuidados humanos

Inducing behavioural change in society through communication and education in sustainable manufacturing

The United Nations considers the mobilization of the broad public to be the essential requirement for achieving a shift towards a more sustainable development. Science can play a vital role in Education for Sustainable Development (ESD) by contributing to ESD-related research and development on the one hand, and by becoming active awareness raisers themselves in education and multiplier networks. Specifically, the use of special Learnstruments, and investment inOpen Educationformats among other educational tools, may pave the way for accelerated apprehension and appreciation of sustainable manufacturing topics among the greater populace

Tracing the origins of rescued chimpanzees reveals widespread chimpanzee hunting in Cameroon

<p>Abstract</p> <p>Background</p> <p>While wild chimpanzees are experiencing drastic population declines, their numbers at African rescue and rehabilitation projects are growing rapidly. Chimpanzees follow complex routes to these refuges; and their geographic origins are often unclear. Identifying areas where hunting occurs can help law enforcement authorities focus scarce resources for wildlife protection planning. Efficiently focusing these resources is particularly important in Cameroon because this country is a key transportation waypoint for international wildlife crime syndicates. Furthermore, Cameroon is home to two chimpanzee subspecies, which makes ascertaining the origins of these chimpanzees important for reintroduction planning and for scientific investigations involving these chimpanzees.</p> <p>Results</p> <p>We estimated geographic origins of 46 chimpanzees from the Limbe Wildlife Centre (LWC) in Cameroon. Using Bayesian approximation methods, we determined their origins using mtDNA sequences and microsatellite (STRP) genotypes compared to a spatial map of georeferenced chimpanzee samples from 10 locations spanning Cameroon and Nigeria. The LWC chimpanzees come from multiple regions of Cameroon or forested areas straddling the Cameroon-Nigeria border. The LWC chimpanzees were partitioned further as originating from one of three biogeographically important zones occurring in Cameroon, but we were unable to refine these origin estimates to more specific areas within these three zones.</p> <p>Conclusions</p> <p>Our findings suggest that chimpanzee hunting is widespread across Cameroon. Live animal smuggling appears to occur locally within Cameroon, despite the existence of local wildlife cartels that operate internationally. This pattern varies from the illegal wildlife trade patterns observed in other commercially valuable species, such as elephants, where specific populations are targeted for exploitation. A broader sample of rescued chimpanzees compared against a more comprehensive grid of georeferenced samples may reveal 'hotspots' of chimpanzee hunting and live animal transport routes in Cameroon. These results illustrate also that clarifying the origins of refuge chimpanzees is an important tool for designing reintroduction programs. Finally, chimpanzees at refuges are frequently used in scientific investigations, such as studies investigating the history of zoonotic diseases. Our results provide important new information for interpreting these studies within a precise geographical framework.</p

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified1,2. To identify further genetic risk factors, we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n= 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant and the overall rate of mutation is only modestly higher than the expected rate. In contrast, there is significantly enriched connectivity among the proteins encoded by genes harboring de novo missense or nonsense mutations, and excess connectivity to prior ASD genes of major effect, suggesting a subset of observed events are relevant to ASD risk. The small increase in rate of de novo events, when taken together with the connections among the proteins themselves and to ASD, are consistent with an important but limited role for de novo point mutations, similar to that documented for de novo copy number variants. Genetic models incorporating these data suggest that the majority of observed de novo events are unconnected to ASD, those that do confer risk are distributed across many genes and are incompletely penetrant (i.e., not necessarily causal). Our results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.

Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by heterozygous point mutations or genomic deletion copy-number variants (CNVs) of FOXF1 or its upstream enhancer involving fetal lung-expressed long noncoding RNA genes LINC01081 and LINC01082. Using custom-designed array comparative genomic hybridization, Sanger sequencing, whole exome sequencing (WES), and bioinformatic analyses, we studied 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. We describe novel deletion CNVs at the FOXF1 locus in 13 unrelated ACDMPV patients. Together with the previously reported cases, all 31 genomic deletions in 16q24.1, pathogenic for ACDMPV, for which parental origin was determined, arose de novo with 30 of them occurring on the maternally inherited chromosome 16, strongly implicating genomic imprinting of the FOXF1 locus in human lungs. Surprisingly, we have also identified four ACDMPV families with the pathogenic variants in the FOXF1 locus that arose on paternal chromosome 16. Interestingly, a combination of the severe cardiac defects, including hypoplastic left heart, and single umbilical artery were observed only in children with deletion CNVs involving FOXF1 and its upstream enhancer. Our data demonstrate that genomic imprinting at 16q24.1 plays an important role in variable ACDMPV manifestation likely through long-range regulation of FOXF1 expression, and may be also responsible for key phenotypic features of maternal uniparental disomy 16. Moreover, in one family, WES revealed a de novo missense variant in ESRP1, potentially implicating FGF signaling in the etiology of ACDMPV