Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum

Microphthalmia, anophthalmia, and coloboma (MAC) are a group of congenital eye anomalies that can affect one or both eyes. Patients can present one or a combination of these ocular abnormalities in the so called “MAC spectrum”. The KIF17 gene encodes the kinesin-like protein Kif17, a microtubule-based, ATP-dependent, motor protein that is pivotal for outer segment development and disc morphogenesis in different animal models, including mice and zebrafish. In this report, we describe a Sicilian family with two siblings affected with congenital coloboma, microphthalmia, and a mild delay of motor developmental milestones. Genomic DNA from the siblings and their unaffected parents was sequenced with a clinical exome that revealed compound heterozygous variants in the KIF17 gene ({"type":"entrez-nucleotide","attrs":{"text":"NM_020816.4","term_id":"1677537661","term_text":"NM_020816.4"}}NM_020816.4: c.1255C > T (p.Arg419Trp); c.2554C > T (p.Arg852Cys)) segregating with the MAC spectrum phenotype of the two affected siblings. Variants were inherited from the healthy mother and father, are present at a very low-frequency in genomic population databases, and are predicted to be deleterious in silico. Our report indicates the potential co-segregation of these biallelic KIF17 variants with microphthalmia and coloboma, highlighting a potential conserved role of this gene in eye development across different species.     

New and exotic self-organized patterns for modulated nanoscale systems

The self-assembled domain patterns of modulated systems are the result of competing short-range attractive and long-range repulsive interactions found in diverse physical and chemical systems. From an application point of view, there is considerable interest in these domain patterns, as they form templates suitable for the fabrication of nanostructures. In this work we have generated a variety of new and exotic patterns, which represent either metastable or glassy states. These patterns arise as a compromise between the required equilibrium modulation period and the strain resulting from topologically constrained trajectories in phase space that effectively preclude the equilibrium configuration.     

Evaluation of organochlorine pesticide residues in human serum from an urban and two rural populations in Portugal

Organochlorine pesticide residues were measured in human serum from an urban and two rural populations in Portugal, in an attempt to evaluate the contamination level of Portuguese population. Serum levels of 12 residues were determined using a validated methodology that included gas chromatography-electron-capture detection. It was made an attempt to point out the differences of contamination between rural and urban populations; and among these, if it could be established a relation with sex and with age of individuals. p,p'DDE, alpha-hexachlorocyclohexane (HCH), p,p'DDD, and beta-HCH were the most frequently identified residues. p,p'DDE concentrations ranged from undetected to 390.5 microg/l in urban samples, and from undetected to 43.5 microg/l and to 171.2 microg/l in both rural samples. Maximum alpha-HCH concentration level was 114.4 microg/l in urban samples, 261.3 and 45.5 microg/l in both rural samples. Mean total DDT levels were always higher than mean total HCH levels. About p,p'DDE, in all three populations, the majority of the results above the limit of quantification were found among female sex. The analysis of different aged groups showed that younger groups continue to reveal contamination. Comparing obtained results with others from Europe, Asia and America, it was observed that Portugal is between the highest levels of contamination.     

Bra band size measurements derived from three-dimensional scans are not accurate in women with large,ptotic breasts

This study investigated differences in standard measurements used to determine bra size, under-bust chest circumference (UBCC) and over-bust chest circumference (OBCC), measured from a three-dimensional scan (hand-held scanner) compared to the direct measurement in 111 women (age 21–56 years; right breast volume 57–1672 mL; bra size 10A–18G). Bland–Altman plots of UBCC measurements showed a large positive bias and wide limits of agreement (12 cm; ?4.6 to 28 cm), which increased as band size increased but decreased when the breasts were digitally removed from the scan prior to the UBCC measurement. The difference in UBCC measurements determined from scans compared to direct measurement had a strong positive correlation with breast volume and breast ptotis. The OBCC measurements showed a small positive bias (2.4 cm; ?3.4 to 8.4), consistent across the range of bra sizes. Bra band size measurements determined from three-dimensional scans can be inaccurate in women with large, ptotic breasts.

Practitioner Summary: We investigated potential errors in anthropometric data derived from three-dimensional scans used for bra design and fit. Bra band size measurements taken from three-dimensional scans were over-estimated in women with large breasts, whereas bra cup size measurements were accurate to within one-cup size across the entire range of bra sizes.     

Images of the laser entrance hole from the static x-ray imager at NIF

The static x-ray imager at the National Ignition Facility is a pinhole camera using a CCD detector to obtain images of Hohlraum wall x-ray drive illumination patterns seen through the laser entrance hole (LEH). Carefully chosen filters, combined with the CCD response, allow recording images in the x-ray range of 3-5 keV with 60?μm spatial resolution. The routines used to obtain the apparent size of the backlit LEH and the location and intensity of beam spots are discussed and compared to predictions. A new soft x-ray channel centered at 870 eV (near the x-ray peak of a 300 eV temperature ignition Hohlraum) is discussed.     

Hot electron measurements in ignition relevant Hohlraums on the National Ignition Facility

On the National Ignition Facility (NIF), hot electrons generated in laser heated Hohlraums are inferred from the >20?keV bremsstrahlung emission measured with the time integrated FFLEX broadband spectrometer. New high energy (>200?keV) time resolved channels were added to infer the generated >170?keV hot electrons that can cause ignition capsule preheat. First hot electron measurements in near ignition scaled Hohlraums heated by 96-192 NIF laser beams are presented.     

Simultaneous multicolor imaging of five different lymphatic basins using quantum dots

Quantum dots can be used to perform multicolor images with high fluorescent intensity and are of a nanosize suitable for lymphatic imaging via direct interstitial injection. Here simultaneous multicolor in vivo wavelength-resolved spectral fluorescence lymphangiography is shown using five quantum dots with similar physical sizes but different emission spectra. This allows noninvasive and simultaneous visualization of five separate lymphatic flows draining and may have implications for predicting the route of cancer metastasis into the lymph nodes.     

Optimization of biofuels production via a water–energy–food nexus framework

Biofuels have emerged as an attractive renewable alternative to satisfy the global energy demands. The large-scale production of biofuels requires the installation of biorefining systems that involve strategic decisions for the logistics and operation in the production of biofuels such as location, feedstock type(s), production capacities and interactions with the surrounding environment. This work proposes an optimization framework for the design of a biorefining system while accounting for the interactions with the surrounding watershed using a material flow analysis technique through the design of an efficient supply chain for the production and distribution of feedstocks, grains and biofuels considering the water and land requirements. The proposed model deals with the uncertainty involved in the project (e.g., prices of feedstocks and products, biofuel demands and precipitation in the watershed). A mixed-integer linear programming model is proposed to simultaneously consider the economic and environmental objectives. A case study located in Mexico is solved for a set of scenarios with the purpose of illustrating the capabilities of the proposed optimization approach. The results show strong trade-offs between the considered objectives and the impact of uncertainties.     

Biological evaluation of mechanically deboned chicken meat protein quality

Mechanically deboned chicken meat (MDCM) is a meat product obtained by crushing tissues after meat removal and is largely used in meat products. Protein quality of flour prepared from defatted MDCM and from fresh chicken breast meat (FCBM) was chemically and biologically evaluated by rat growth and nitrogen balance studies. Proximate chemical composition, on a dry basis, of MDCM and FCBM showed protein contents of 90.5% and 82.2%, lipid contents of 3.0% and 13.2% and ash contents of 6.1% and 4.2%, respectively. There was a relatively good balance of essential amino acids in both samples although lysine was in low concentration in MDCM being a limiting amino acid. Feeding of flour diets resulted in high protein efficiency ratio, a high net protein utilization and high nitrogen balance, thus showing a high biological value and also high true digestibility and, consistently, NPU for both samples is similar to casein.