Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright © 2005 John Wiley & Sons, Ltd.     

Prenatal detection of mosaic isochromosome 20q: a fourth report with abnormal phenotype

We described a new case of mosaic isochromosome 20q revealed by amniocentesis. The propositus presented with craniofacial dysmorphism, clubfeet, and vertebral abnormalities. A 46,XX,i(20)(q10)[14]/46,XX[1] karyotype was confirmed by FISH on cultured cells. The pregnancy was terminated. From review of literature, fetus with mosaic isochromosome 20q identified on amniocentesis are most likely to be phenotypically and cytogenetically normal after birth. So we performed CGH and array-CGH to exclude another possible imbalance. We discuss here the possible relation between this chromosomal abnormality and the abnormal phenotype. Copyright © 2005 John Wiley & Sons, Ltd.     

Community Sustainability Plans to enable change towards sustainable practice – a Scottish case study

There is a need for a global shift towards a low-carbon society and this requires action at the local level. The aim of the study into sustainable community development is to clarify the role of a community as a whole rather than the role of individuals within that community. Mixed methods of literature review and empirical study have been used to translate the knowledge and experience with urban sustainable development into empirical knowledge of a rural, market town setting. The exemplary case study is the Scottish market town Huntly. The main findings of the study show the need for three ingredients for a Community Sustainability Plan for a town such as Huntly. Community involvement is crucial in developing such plans in a rural setting. Further research in more remote settings, e.g. coastal and island communities, is needed to allow broader conclusions on rural sustainable development.     

A new Jurassic theropod from China documents a transitional step in the macrostructure of feathers

Genuine fossils with exquisitely preserved plumage from the Late Jurassic and Early Cretaceous of northeastern China have recently revealed that bird-like theropod dinosaurs had long pennaceous feathers along their hindlimbs and may have used their four wings to glide or fly. Thus, it has been postulated that early bird flight might initially have involved four wings (Xu et al. Nature 421:335–340, 2003; Hu et al. Nature 461:640–643, 2009; Han et al. Nat Commun 5:4382, 2014). Here, we describe Serikornis sungei gen. et sp. nov., a new feathered theropod from the Tiaojishan Fm (Late Jurassic) of Liaoning Province, China. Its skeletal morphology suggests a ground-dwelling ecology with no flying adaptations. Our phylogenetic analysis places Serikornis, together with other Late Jurassic paravians from China, as a basal paravians, outside the Eumaniraptora clade. The tail of Serikornis is covered proximally by filaments and distally by slender rectrices. Thin symmetrical remiges lacking barbules are attached along its forelimbs and elongate hindlimb feathers extend up to its toes, suggesting that hindlimb remiges evolved in ground-dwelling maniraptorans before being co-opted to an arboreal lifestyle or flight.     

Occurrence and Trend of Hepatitis A Virus in Bivalve Molluscs Production Areas Following a Contamination Event

The aim of this study was to assess the trend of hepatitis A virus (HAV) in a coastal zone impacted by a contamination event, providing data for the development of management strategies. A total of 352 samples, including four bivalve mollusc species (Mytilus galloprovincialis, Solen vagina, Venus gallina and Donax trunculus), were taken over a period of 6 months from 27 production areas of the coast and analysis were performed according to ISO/TS 15216-1:2013. HAV presence was detected in 77 samples from 11 production areas and all positive results were related to samples collected in the first 3 months of the surveillance, during which HAV prevalence was 39.9% and values as high as 5096 genome copies/g were detected. A progressive reduction of viral contamination was evident during the first trimester of the monitoring, with prevalence decreasing from 78.8% in the first month, to 37.8% in the second and 3.9% in the third and quantitative levels reduced from an average value of 672 genome copies/g to 255 genome copies/g over a period of 4 weeks (virus half-life: 21.5 days). A regression analysis showed that, during the decreasing phase of the contamination, the data fitted a reciprocal quadratic model (Ra² = 0.921) and, based on the model, a residual presence of HAV could be estimated after negativization of the production areas. The statistical analysis of the results per shellfish species and per production area showed that there were limited differences in contamination prevalence and levels among diverse bivalve species, while a statistically significant difference was present in quantitative levels of one production area. These data could be useful for the development of both risk assessment models and code of practice for the management of viral contamination in primary production.