A Case Report of Germline Compound Heterozygous Mutations in the BRCA1 Gene of an Ovarian and Breast Cancer Patient

The germline carrier of the BRCA1 pathogenic mutation has been well proven to confer an increased risk of breast and ovarian cancer. Despite BRCA1 biallelic pathogenic mutations being extremely rare, they have been reported to be embryonically lethal or to cause Fanconi anemia (FA). Here we describe a patient who was a 48-year-old female identified with biallelic pathogenic mutations of the BRCA1 gene, with no or very subtle FA-features. She was diagnosed with ovarian cancer and breast cancer at the ages of 43 and 44 and had a strong family history of breast and gynecological cancers.     

Structure-conductivity relationship of PrBaMnMoO6-δ through in-situ measurements: A neutron diffraction study

The structural and electrochemical properties of the double perovskite-type oxide, PrBaMnMoO_6-δ, was investigated using neutron diffraction with in-situ conductivity measurement under a dry Argon atmosphere from 25 °C to 700 °C. A Rietveld refinement of the neutron diffraction data confirmed monoclinic symmetry in the P2₁/n space group. Rietveld refinement also confirms the unit cell parameters of a = 5.6567 (1) Å, b = 5.6065 (2) Å, c = 7.9344 (1) Å and β = 84.43° with reliable atomic positions and refinement factors (R-factors). Neutron diffraction data refinement shows two minor phases (<5%), an orthorhombic AB₂O₅ type phase of PrMn₂O₅ in the Pbam (No. 32) space group with unit cell parameters, a = 7.9672 (1) Å, b = 8.9043 (2) Å and c = 5.8540 (1) Å and a scheelite phase of BaMoO₄ in the tetragonal I4₁/a (88) space group with the unit cell parameters, a = b = 5.9522 (1) Å, and c = 12.3211 (2) Å. Morphological images revealed a porous and intertwined microstructure. In-situ conductivity measurement shows that the total conductivity of this material was 130.84 Scm^?1 at 700 °C.     

The Role of microRNAs in Development of Colitis-Associated Colorectal Cancer

Colorectal cancer (CRC) is the third most deadly cancer worldwide, and inflammatory bowel disease (IBD) is one of the critical factors in CRC carcinogenesis. IBD is responsible for an unphysiological and sustained chronic inflammation environment favoring the transformation. MicroRNAs (miRNAs) belong to a class of highly conserved short single-stranded segments (18–25 nucleotides) non-coding RNA and have been extensively discussed in both CRC and IBD. However, the role of miRNAs in the development of colitis-associated CRC (CAC) is less clear. The aim of this review is to summarize the major upregulated (miR-18a, miR-19a, miR-21, miR-31, miR-155 and miR-214) and downregulated (miR-124, miR-193a-3p and miR-139-5p) miRNAs in CAC, and their roles in genes’ expression modulation in chronic colonic-inflammation-induced carcinogenesis, including programmed cell-death pathways. These miRNAs dysregulation could be applied for early CAC diagnosis, to predict therapy efficacy and for precision treatment.     

Pectic Galactan Polysaccharide-Based Gene Delivery System for Targeting Neuroinflammation

Treating neuroinflammation-related injuries and disorders through manipulation of neuroinflammation functions is being heralded as a new therapeutic strategy. In this study, a novel pectic galactan (PG) polysaccharide based gene therapy approach is developed for targeting reactive gliosis in neuroinflammation. Galectin-3 (Gal-3) is a cell protein with a high affinity to β-galactoside sugars and is highly expressed in reactive gliosis. Since PG carries galactans, it can target reactive gliosis via specific carbohydrate interaction between galactan and Gal-3 on the cell membrane, and therefore can be utilized as a carrier for delivering genes to these cells. The carrier is synthesized by modifying quaternary ammonium groups on the PG. The resulting quaternized PG (QPG) is found to form complexes with plasmid DNA with a mean diameter of 100 nm and have the characteristics required for targeted gene therapy. The complexes efficiently condense large amounts of plasmid per particle and successfully bind to Gal-3. The in vivo study shows that the complexes are biocompatible and safe for administration and can selectively transfect reactive glial cells of an induced cortical lesion. The results confirm that this PG-based delivery system is a promising platform for targeting Gal-3 overexpressing neuroinflammation cells for treating neuroinflammation-related injuries and neurodegenerative diseases.     

Development of low-loss lead-germanate glass for mid-infrared fiber optics: II. preform extrusion and fiber fabrication

For lead-germanate glass fibers, reducing the content of hydroxyl (OH) groups and the formation of metallic Pb species is essential to pave the way for their applications as low-loss mid-IR fiber optics since OH and metallic Pb species cause intense absorption and scattering loss, respectively, in the mid-IR spectral range. The first part of this study reported the optimization of the glass melting procedure to obtain low amount of OH while preventing formation of metallic Pb species in lead-germanate glass. Here, the second part of this study reports the investigation of the process conditions to fabricate low-loss lead-germanate glass fiber through further understanding of the co-effects of glass melting and heat treatment atmospheres on the formation of nano- and micron-scale metallic Pb species in both the as-produced and heat treated lead-germanate glasses. Finally, using this advance in knowledge, we successfully fabricated low-loss lead-germanate glass fibers with no presence of reduced metallic Pb particles by optimizing dehydration agent, glass melting, preform extrusion and fiber drawing conditions. The optimized fabrication conditions reduced the unstructured fiber loss by almost one order to <0.3 dB/m at 1.55 μm.     

Selective Photo-epoxidation of (R)-(+)- and (S)-(−)-Limonene by Chiral and Non-Chiral Dioxo-Mo(VI) Complexes Anchored on TiO2-Nanotubes

Topics in Catalysis - Selective epoxidation of the (R) and (S) isomers of limonene by dioxomolybdenum(VI) complexes anchored covalently on TiO2 nanotubes using UV–Vis light and O2 as the...     

Airborne bacterial assemblage in a zero carbon building: A case study

Currently, there is little information pertaining to the airborne bacterial communities of green buildings. In this case study, the air bacterial community of a zero carbon building (ZCB) in Hong Kong was characterized by targeting the bacterial 16S rRNA gene. Bacteria associated with the outdoor environment dominated the indoor airborne bacterial assemblage, with a modest contribution from bacteria associated with human skin. Differences in overall community diversity, membership, and composition associated with short (day‐to‐day) and long‐term temporal properties were detected, which may have been driven by specific environmental genera and taxa. Furthermore, time‐decay relationships in community membership (based on unweighted UniFrac distances) and composition (based on weighted UniFrac distances) differed depending on the season and sampling location. A Bayesian source‐tracking approach further supported the importance of adjacent outdoor air bacterial assemblage in sourcing the ZCB indoor bioaerosol. Despite the unique building attributes, the ZCB microbial assemblage detected and its temporal characteristics were not dissimilar to that of conventional built environments investigated previously. Future controlled experiments and microbial assemblage investigations of other ZCBs will undoubtedly uncover additional knowledge related to how airborne bacteria in green buildings may be influenced by their distinctive architectural attributes.     

Potential pitfalls of smart city development: A study on parking mobile applications (apps) in Hong Kong

Smart cities are built upon information and communication technologies (ICTs) to enable a broad range of advanced services. Through a comprehensive literature review, this study identified four pitfalls brought by the pervasive application of ICT, including information insecurity, privacy leakage, information islands, and digital divide. Therefore, a questionnaire survey together with 27 interviews was conducted in Hong Kong to investigate how the public perceived these pitfalls within the context of mobile apps providing real-time parking information which form a major part of smart mobility. System insecurity and privacy leakage were found to arouse worries among the app-users while their awareness of protecting personal data was found to have room for improvement. Islands of real-time parking information occur as a result of the lack of collaboration among private carpark operators. Digital divide existed widely among the disadvantaged groups and the problem cannot be solved by mere provision of ICT facilities. Overall, technologies alone cannot make a city smart or smarter. It is the suitable way in which ICTs are used to serve all citizens that matters.     

Influence of particle contact models on soil response of poorly graded sand during cavity expansion in discrete element simulation

The discrete element method (DEM) has been extensively adopted to investigate many complex geotechnical related problems due to its capability to incorporate the discontinuous nature of granular materials. In particular, when simulating large deformations or distortion of soil (e.g. cavity expansion), DEM can be very effective as other numerical solutions may experience convergence problems. Cavity expansion theory has widespread applications in geotechnical engineering, particularly to the problems concerning in situ testing, pile installation and so forth. In addition, the behaviour of geomaterials in a macro-level is utterly determined by microscopic properties, highlighting the importance of contact models. Despite the fact that there are numerous contact models proposed to mimic the realistic behaviour of granular materials, there are lack of studies on the effects of these contact models on the soil response. Hence, in this study, a series of three-dimensional numerical simulations with different contact constitutive models was conducted to simulate the response of sandy soils during cylindrical cavity expansion. In this numerical investigation, three contact models, i.e. linear contact model, rolling resistance contact model, and Hertz contact model, are considered. It should be noted that the former two models are linear based models, providing linearly elastic and frictional plasticity behaviours, whereas the latter one consists of nonlinear formulation based on an approximation of the theory of Mindlin and Deresiewicz. To examine the effects of these contact models, several cylindrical cavities were created and expanded gradually from an initial radius of 0.055 m to a final radius of 0.1 m. The numerical predictions confirm that the calibrated contact models produced similar results regarding the variations of cavity pressure, radial stress, deviatoric stress, volumetric strain, as well as the soil radial displacement. However, the linear contact model may result in inaccurate predictions when highly angular soil particles are involved. In addition, considering the excessive soil displacement induced by the pile installation (i.e. cavity expansion), a minimum distance of 11a (a is the cavity radius) is recommend for practicing engineers to avoid the potential damages to the existing piles and adjacent structures.