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https://www.readbyqxmd.com/read/29456477/dual-diagnosis-of-ellis-van-creveld-syndrome-and-hearing-loss-in-a-consanguineous-family
#1
Barbara Vona, Reza Maroofian, Geetu Mendiratta, Matthew Croken, Siwu Peng, Xiaoqian Ye, Jamileh Rezazadeh, Paulina Bahena, Caroline Lekszas, Thomas Haaf, Lisa Edelmann, Lisong Shi
Multilocus analysis of rare or genetically heterogeneous diseases is a distinct advantage of next-generation sequencing (NGS) over conventional single-gene investigations. Recent studies have begun to uncover an under-recognized prevalence of dual molecular diagnoses in patients with a "blended" phenotype that is the result of 2 clinical diagnoses involving 2 separate genetic loci. This blended phenotype could be mistakenly interpreted as a novel clinical extension of a single-gene disorder. In this study, we ascertained a proband from a large consanguineous Iranian family who manifests postlingual, progressive, moderate hearing loss in addition to suspected Ellis-van Creveld syndrome phenotype...
December 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/29454572/presence-of-colon-carcinoma-cells-at-the-resection-line-may-cause-recurrence-following-stapling-anastomosis
#2
Tzu-Chi Hsu, Ming-Jen Chen
BACKGROUND/OBJECTIVE: The presence of carcinoma cells in the suture line may result in local recurrence. The purpose of this study was to assess whether carcinoma cells were present along the resection line where the distal clamp was applied. METHODS: During surgery, the rectum was clamped at least 3 cm distal to the palpable margin of the tumor mass. The rectum was divided distal and proximal to the clamp. The tissue inside the clamp was rinsed with normal saline, and the irrigation solution was sent for cytologic examination...
February 14, 2018: Asian Journal of Surgery
https://www.readbyqxmd.com/read/29453211/fistulation-between-a-colonic-j-pouch-and-the-upper-vagina-in-an-irradiated-pelvis-a-rare-complication-following-low-anterior-resection-with-colonic-j-pouch-anal-anastomosis-for-rectal-cancer
#3
James Tankel, Shlomo Yellineck, Petachia Reissman
Formation of a colonic J-pouch with anastomosis to the rectal stump is an accepted form of reconstruction after low anterior resection (LAR) for rectal carcinoma. It is thought this can help prevent the onset of LAR syndrome as well as improve the quality of life in the first two years following surgery. Rectovaginal fistulation is a recognised complication of this form of surgery usually occurring because of technical failure leading to inclusion of the vaginal wall into the stapled anastomosis. We present an as of yet unreported case of fistulation between the upper horizontal staple line of a colonic J-pouch-the tip of the 'J'-which was formed extracorporeally with the posterior vaginal fornix...
February 16, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29452977/arguments-used-in-public-comments-to-support-or-oppose-the-us-department-of-agriculture-s-minimum-stocking-requirements-a-content-analysis
#4
Lindsey Haynes-Maslow, Lauri Andress, Stephanie Jilcott Pitts, Isabel Osborne, Barbara Baquero, Lisa Bailey-Davis, Carmen Byker-Shanks, Bailey Houghtaling, Jane Kolodinsky, Brian K Lo, Emily H Morgan, Emily Piltch, Elaine Prewitt, Rebecca A Seguin, Alice S Ammerman
BACKGROUND: In 2016, the US Department of Agriculture (USDA)'s Supplemental Nutrition Assistance Program (SNAP) Retailer Rule proposed several changes for SNAP-authorized retailers, including: requiring retailers to have at least 85% of their food sales come from items that are not cooked or heated on site before or after purchase; requiring stores to stock seven varieties of qualifying foods from four staple food groups; requiring stores to carry perishable foods in three of the four staple groups; requiring stores to carry six units of qualifying foods at all times (depth of stock); disqualifying multiple ingredient foods and accessory foods from counting toward depth of stock requirements...
February 13, 2018: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/29451771/structural-transformation-of-wireframe-dna-origami-via-dna-polymerase-assisted-gap-filling
#5
Nayan P Agarwal, Michael Matthies, Bastian Joffroy, Thorsten L Schmidt
The programmability of DNA enables constructing nanostructures with almost any arbitrary shape, which can be decorated with many functional materials. Moreover, dynamic structures can be realized such as molecular motors and walkers. In this work, we have explored the possibility to synthesize the complementary sequences to single-stranded gap regions in the DNA origami scaffold cost effectively by a DNA polymerase rather than by a DNA synthesizer. For this purpose, four different wireframe DNA origami structures were designed to have single-stranded gap regions...
February 16, 2018: ACS Nano
https://www.readbyqxmd.com/read/29449439/macrophages-and-neutrophils-dynamic-duo-or-partners-in-crime
#6
EDITORIAL
Karl J Staples
No abstract text is available yet for this article.
February 15, 2018: Thorax
https://www.readbyqxmd.com/read/29449124/investigating-pka-rii-specificity-using-analogs-of-the-pka-akap-peptide-inhibitor-stad-2
#7
N George Bendzunas, Sabrina Dörfler, Karolin Autenrieth, Daniela Bertinetti, Erik M F Machal, Eileen J Kennedy, Friedrich W Herberg
Generation of the second messenger molecule cAMP mediates a variety of cellular responses which are essential for critical cellular processes. In response to elevated cAMP levels, cAMP dependent protein kinase (PKA) phosphorylates serine and threonine residues on a wide variety of target substrates. In order to enhance the precision and directionality of these signaling events, PKA is localized to discrete locations within the cell by A-kinase anchoring proteins (AKAPs). The interaction between PKA and AKAPs is mediated via an amphipathic α-helix derived from AKAPs which binds to a stable hydrophobic groove formed in the dimerization/docking (D/D) domain of PKA-R in an isoform-specific fashion...
February 12, 2018: Bioorganic & Medicinal Chemistry
https://www.readbyqxmd.com/read/29445513/evaluating-different-interrow-distance-between-corn-and-soybean-for-optimum-growth-production-and-nutritive-value-of-intercropped-forages
#8
Jeongtae Kim, Yowook Song, Dong Woo Kim, Muhammad Fiaz, Chan Ho Kwon
Background: Maize fodder is being used as staple feed for livestock but it lacks protein and essential amino acids; lysine and tryptophan. Intercropping maize with leguminous soybean crop is promising technique under limited land resources of South Korea but it can only give considerable advantages when adequate distance is provided between corn and soybean rows. Main aim of present study was to find-out adequate distance between corn and soybean seeding rows for optimum growth, yield and nutritive value of intercropped forage...
2018: Journal of Animal Science and Technology
https://www.readbyqxmd.com/read/29444566/chemical-characterization-of-novel-natural-products-from-the-roots-of-asian-rice-oryza-sativa-that-control-adipocyte-and-osteoblast-differentiation
#9
Hee Rae Kang, Hyung Sik Yun, Tae Kyoung Lee, Seulah Lee, Seon-Hee Kim, Eunjung Moon, Ki-Moon Park, Ki Hyun Kim
Oryza sativa L. is consumed globally as a staple food and its roots have been used as a Korean and Chinese medical supplement for protection of the stomach and lungs and for amelioration of vomiting and fever. In our continuing search for biologically effective metabolites from Korean natural materials, we found that an EtOH extract of O. sativa root reciprocally regulated adipocyte and osteoblast differentiation. Chemical analysis of the EtOH extract using a bioassay-guided fractionation protocol led to the isolation and determination of two novel lignans, oryzativols A and B, responsible for these regulatory activities...
February 14, 2018: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29443626/immunogenicity-of-fractional-dose-vaccine-during-a-yellow-fever-outbreak-preliminary-report
#10
Steve Ahuka-Mundeke, Rebecca M Casey, Jennifer B Harris, Meredith G Dixon, Pierre M Nsele, Gabriel M Kizito, Grace Umutesi, Janeen Laven, Gilson Paluku, Abdou S Gueye, Terri B Hyde, Guylain K M Sheria, Jean-Jacques Muyembe-Tanfum, J Erin Staples
Background In 2016, the response to a yellow fever outbreak in Angola and the Democratic Republic of Congo led to a global shortage of yellow fever vaccine. As a result, a fractional dose of the 17DD yellow fever vaccine (containing one fifth [0.1 ml] of the standard dose) was offered to 7.6 million children 2 years of age or older and nonpregnant adults in a preemptive campaign in Kinshasa. The goal of this study was to assess the immune response to the fractional dose in a large-scale campaign. Methods We recruited participants in four age strata at six vaccination sites...
February 14, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29442512/discovery-of-hydrocarbon-stapled-short-%C3%AE-helical-peptides-as-promising-middle-east-respiratory-syndrome-coronavirus-mers-cov-fusion-inhibitors
#11
Chao Wang, Shuai Xia, Peiyu Zhang, Tianhong Zhang, Weicong Wang, Yangli Tian, Guangpeng Meng, Shibo Jiang, Keliang Liu
The hexameric α-helical coiled-coil formed between the C-terminal and N-terminal heptad repeat (CHR and NHR) regions of class I viral fusion proteins plays an important role in mediating the fusion of the viral and cellular membranes and provides a clear starting point for molecular mimicry that drives viral fusion inhibitor design. Unfortunately, such peptide mimicry of the short α-helical region in the CHR of Middle East respiratory syndrome coronavirus (MERS-CoV) spike protein has been thwarted by the loss of the peptide's native α-helical conformation when taken out of the parent protein structure...
February 14, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29441337/a-novel-robotic-right-colectomy-for-colon-cancer-via-the-suprapubic-approach-using-the-da-vinci-xi-system-initial-clinical-experience
#12
Hee Jae Lee, Gyu-Seog Choi, Jun Seok Park, Soo Yeun Park, Hye Jin Kim, In Teak Woo, In Kyu Park
Purpose: We developed a technique of totally-robotic right colectomy with D3 lymphadenectomy and intracorporeal anastomosis via a suprapubic transverse linear port. This article aimed to introduce our novel robotic surgical technique and assess the short-term outcomes in a series of five patients. Methods: All colectomies were performed using the da Vinci Xi system. Four robot trocars were placed transversely in the supra pubic area. Totally-robotic right colectomy was performed, including colonic mobilization, D3 lymphadenectomy, and intra corporeal stapled functional anastomosis...
February 2018: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/29440534/individual-differences-in-reading-skill-are-related-to-trial-by-trial-neural-activation-variability-in-the-reading-network
#13
Jeffrey G Malins, Kenneth R Pugh, Bonnie Buis, Stephen J Frost, Fumiko Hoeft, Nicole Landi, W Einar Mencl, Anish Kurian, Ryan Staples, Peter Molfese, Rose Sevcik, Robin Morris
Recent work has suggested that variability in levels of neural activation may be related to behavioral and cognitive performance across a number of domainsnd may offer information that is not captured by more traditional measures that use the average level of brain activation. We examined the relationship between reading skill in school-aged children and neural activation variability during an fMRI reading task after taking into account average levels of activity. The reading task involved matching printed and spoken words to pictures of items...
February 12, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29439687/3d-analysis-of-osteosyntheses-material-using-semi-automated-ct-segmentation-a-case-series-of-a-4-corner-fusion-plate
#14
Rebecca Woehl, Johannes Maier, Sebastian Gehmert, Christoph Palm, Birgit Riebschlaeger, Michael Nerlich, Michaela Huber
BACKROUND: Scaphoidectomy and midcarpal fusion can be performed using traditional fixation methods like K-wires, staples, screws or different dorsal (non)locking arthrodesis systems. The aim of this study is to test the Aptus four corner locking plate and to compare the clinical findings to the data revealed by CT scans and semi-automated segmentation. METHODS: This is a retrospective review of eleven patients suffering from scapholunate advanced collapse (SLAC) or scaphoid non-union advanced collapse (SNAC) wrist, who received a four corner fusion between August 2011 and July 2014...
February 13, 2018: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/29439318/the-effect-of-three-different-surgical-techniques-for-colon-anastomosis-on-regional-postoperative-microperfusion-laser-doppler-flowmetry-study-in-pigs
#15
Milan Kaska, Slavomir Blazej, Zdenek Turek, Ales Ryska, Boris Jegorov, Vera Radochova, Jan Bezouska, Jiri Paral
BACKGROUND: The optimal surgical approach to reconnecting bowel ends safely after resection is of great importance. OBJECTIVES: This project is focused on assessment of the perianastomotic microcirculation quality in the short postoperative period when using three different anastomosis techniques in experimental animal. METHODS: The experimental study involved 27 young female domestic pigs divided into three subgroups of 9 animals according to each surgical method of anastomosis construction in the sigmoid colon region: by manual suture, by stapler, or by gluing...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29438838/selenium-distribution-in-the-chinese-environment-and-its-relationship-with-human-health-a-review
#16
REVIEW
Quang Toan Dinh, Zewei Cui, Jie Huang, Thi Anh Thu Tran, Dan Wang, Wenxiao Yang, Fei Zhou, Mengke Wang, Dasong Yu, Dongli Liang
This paper reviewed the Se in the environment (including total Se in soil, water, plants, and food), the daily Se intake and Se content in human hair were also examined to elucidate Se distribution in the environment and its effects on human health in China. Approximately 51% of China is Se deficiency in soil, compared with 72% in the survey conducted in 1989. Low Se concentrations in soil, water, plants, human diet and thus human hair were found in most areas of China. The only significant difference was observed between Se-rich and Se-excessive areas for Se contents in water, staple cereal, vegetables, fruits, and animal-based food, no remarkable contrast was found among other areas (p>0...
February 9, 2018: Environment International
https://www.readbyqxmd.com/read/29437090/complete-genome-sequences-of-44-arthrobacter-phages
#17
Karen K Klyczek, Deborah Jacobs-Sera, Tamarah L Adair, Sandra D Adams, Sarah L Ball, Robert C Benjamin, J Alfred Bonilla, Caroline A Breitenberger, Charles J Daniels, Bobby L Gaffney, Melinda Harrison, Lee E Hughes, Rodney A King, Gregory P Krukonis, A Javier Lopez, Kirsten Monsen-Collar, Marie C Pizzorno, Claire A Rinehart, Amanda K Staples, Emily L Stowe, Rebecca A Garlena, Daniel A Russell, Steven G Cresawn, Welkin H Pope, Graham F Hatfull
We report here the complete genome sequences of 44 phages infecting Arthrobacter sp. strain ATCC 21022. These phages have double-stranded DNA genomes with sizes ranging from 15,680 to 70,707 bp and G+C contents from 45.1% to 68.5%. All three tail types (belonging to the families Siphoviridae , Myoviridae , and Podoviridae ) are represented.
February 1, 2018: Genome Announcements
https://www.readbyqxmd.com/read/29435568/the-april-20-cannabis-celebration-and-fatal-traffic-crashes-in-the-united-states
#18
John A Staples, Donald A Redelmeier
No abstract text is available yet for this article.
February 12, 2018: JAMA Internal Medicine
https://www.readbyqxmd.com/read/29433786/incorporating-orange-fleshed-sweet-potato-into-the-food-system-as-a-strategy-for-improved-nutrition-the-context-of-south-africa
#19
Sunette M Laurie, Mieke Faber, Nicole Claasen
Orange-fleshed sweet potato (OFSP) is considered the single most successful example of biofortification of a staple crop, and presents a feasible option to address vitamin A deficiency. Though initially promoted as part of a crop-based approach focusing on production and consumption at household level, it evolved into small-scale commercial production, predominantly in Sub-Saharan Africa. This paper reviews OFSP initiatives in relation to the South African food environment and food supply systems, also identifying opportunities for scaling out OFSP in a situation where sweet potato is not eaten as a staple...
February 2018: Food Research International
https://www.readbyqxmd.com/read/29433589/cassava-whitefly-bemisia-tabaci-gennadius-hemiptera-aleyrodidae-in-east-african-farming-landscapes-a-review-of-the-factors-determining-abundance
#20
S Macfadyen, C Paull, L M Boykin, P De Barro, M N Maruthi, M Otim, A Kalyebi, D G Vassão, P Sseruwagi, W T Tay, H Delatte, Z Seguni, J Colvin, C A Omongo
Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae) is a pest species complex that causes widespread damage to cassava, a staple food crop for millions of households in East Africa. Species in the complex cause direct feeding damage to cassava and are the vectors of multiple plant viruses. Whilst significant work has gone into developing virus-resistant cassava cultivars, there has been little research effort aimed at understanding the ecology of these insect vectors. Here we assess critically the knowledge base relating to factors that may lead to high population densities of sub-Saharan African (SSA) B...
February 13, 2018: Bulletin of Entomological Research
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