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https://www.readbyqxmd.com/read/28212443/recurrent-rearrangements-of-the-myb-sant-like-dna-binding-domain-containing-3-gene-msantd3-in-salivary-gland-acinic-cell-carcinoma
#1
Nicholas Barasch, Xue Gong, Kevin A Kwei, Sushama Varma, Jewison Biscocho, Kunbin Qu, Nan Xiao, Joseph S Lipsick, Robert J Pelham, Robert B West, Jonathan R Pollack
Pathogenic gene fusions have been identified in several histologic types of salivary gland neoplasia, but not previously in acinic cell carcinoma (AcCC). To discover novel gene fusions, we performed whole-transcriptome sequencing surveys of three AcCC archival cases. In one specimen we identified a novel HTN3-MSANTD3 gene fusion, and in another a novel PRB3-ZNF217 gene fusion. The structure of both fusions was consistent with the promoter of the 5' partner (HTN3 or PRB3), both highly expressed salivary gland genes, driving overexpression of full-length MSANTD3 or ZNF217...
2017: PloS One
https://www.readbyqxmd.com/read/28212379/distribution-and-abundance-of-key-vectors-of-rift-valley-fever-and-other-arboviruses-in-two-ecologically-distinct-counties-in-kenya
#2
Rosemary Sang, Samwel Arum, Edith Chepkorir, Gladys Mosomtai, Caroline Tigoi, Faith Sigei, Olivia Wesula Lwande, Tobias Landmann, Hippolyte Affognon, Clas Ahlm, Magnus Evander
BACKGROUND: Rift Valley fever (RVF) is a mosquito-borne viral zoonosis of ruminants and humans that causes outbreaks in Africa and the Arabian Peninsula with significant public health and economic consequences. Humans become infected through mosquito bites and contact with infected livestock. The virus is maintained between outbreaks through vertically infected eggs of the primary vectors of Aedes species which emerge following rains with extensive flooding. Infected female mosquitoes initiate transmission among nearby animals, which amplifies virus, thereby infecting more mosquitoes and moving the virus beyond the initial point of emergence...
February 17, 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28212310/presence-of-calcium-lowers-the-expansion-of-bacillus-subtilis-colony-biofilms
#3
Eisha Mhatre, Anandaroopan Sundaram, Theresa Hölscher, Mike Mühlstädt, Jörg Bossert, Ákos T Kovács
Robust colony formation by Bacillus subtilis is recognized as one of the sessile, multicellular lifestyles of this bacterium. Numerous pathways and genes are responsible for the architecturally complex colony structure development. Cells in the biofilm colony secrete extracellular polysaccharides (EPS) and protein components (TasA and the hydrophobin BslA) that hold them together and provide a protective hydrophobic shield. Cells also secrete surfactin with antimicrobial as well as surface tension reducing properties that aid cells to colonize the solid surface...
February 16, 2017: Microorganisms
https://www.readbyqxmd.com/read/28212220/hcv-antiviral-therapy-in-liver-transplant-candidates-and-recipients-with-renal-insufficiency
#4
Elizabeth C Verna, Robert S Brown
Hepatitis C virus (HCV) remains the leading indication for liver transplant in much of the world, and has traditionally been associated with diminished posttransplant survival due to recurrent HCV-related liver disease. This field has been dramatically changed by the advent of safe and effective directly active antiviral (DAA) therapy, such that most patients can be cured in the pre or posttransplant setting. In addition, there are now DAA regimens specifically approved for use in patients with severe renal insufficiency...
February 16, 2017: Transplantation
https://www.readbyqxmd.com/read/28212182/what-s-new-in-obstetric-anesthesia-the-2016-gerard-w-ostheimer-lecture
#5
Philip E Hess
This special article presents potentially important trends and issues affecting the field of obstetric anesthesia drawn from publications in 2015. Both maternal mortality and morbidity in the United States have increased in recent years because, in part, of the changing demographics of the childbearing population. Pregnant women are older and have more pre-existing conditions and complex medical histories. Cardiovascular and noncardiovascular medical diseases now account for half of maternal deaths in the United States...
March 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28212152/an-update-on-small-bowel-endoscopy
#6
Hey-Long Ching, Mark E McAlindon, Reena Sidhu
PURPOSE OF REVIEW: The breakthrough success of capsule endoscopy and device-assisted enteroscopy has inspired researchers to test and push the boundary of these technologies. The authors herein summarize the latest and most significant studies with clinical impact. RECENT FINDINGS: Competing capsule endoscopy models have enriched the platform of this wireless device. The role of capsule endoscopy in Crohn's disease is expanding as we learn more of the significance of disease distribution and response to treatment...
February 15, 2017: Current Opinion in Gastroenterology
https://www.readbyqxmd.com/read/28212003/tip2o7-and-expanded-graphite-nanocomposite-as-anode-material-for-aqueous-lithium-ion-batteries
#7
Yunping Wen, Long Chen, Ying Pang, Zhaowei Guo, Duan Bin, Yong-Gang Wang, Congxiao Wang, Yongyao Xia
This paper reports a facile sol-gel synthesis method to successfully prepare the TiP2O7/expanded graphite (EG) nanocomposite as an advanced anode material for aqueous lithium-ion batteries. The constructed TiP2O7 nanocomposite (50-100 nm) are in-situ encapsulated in the pore and layer structure of expanded graphite with good conductivity and high specific surface area. As a consequence, the resulting TiP2O7/EG electrode exhibits a reversible capacity of 66 mAh g-1 at 0.1 A g-1 with an appropriate potential of -0...
February 17, 2017: ACS Applied Materials & Interfaces
https://www.readbyqxmd.com/read/28211994/building-the-coverage-continuum-the-role-of-state-medicaid-directors-and-insurance-commissioners
#8
Joel Ario, Deborah Bachrach
Issue: The Affordable Care Act has expanded coverage to 20 million newly insured individuals, split between state Medicaid programs and commercially insured marketplaces, with limited integration between the two. The seamless continuum of coverage envisioned by the law is central to achieving the full potential of the Affordable Care Act, but it remains an elusive promise. Goals: To examine the historical and cultural differences between state Medicaid agencies and insurance departments that contribute to this lack of coordination...
2017: Issue Brief of the Commonwealth Fund
https://www.readbyqxmd.com/read/28211987/10-year-old-female-with-intragenic-kansl1-mutation-no-kansl1-related-intellectual-disability-and-preserved-verbal-intelligence
#9
Colleen Keen, Carole Samango-Sprouse, Holly Dubbs, Elaine H Zackai
Koolen-de Vries Syndrome (KdVS), also referred to as 17q21.31 microdeletion syndrome, is caused by haploinsufficiency of the KANSL1 gene. This genetic disorder is associated with a clinical phenotype including facial dysmorphism, developmental delay, and friendly disposition, as well as mild-to-moderate intellectual disability. We present the case of a 10 year 8 month old female with KdVS due to a de novo intragenic KANSL1 mutation. At this time, she does not present with intellectual disability, and her verbal intelligence is relatively preserved, although she has perceptual deficits, developmental dyspraxia, and severe speech disorder...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#10
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211918/myotonic-dystrophy-type-1-patient-derived-ipscs-for-the-investigation-of-ctg-repeat-instability
#11
Junko Ueki, Masayuki Nakamori, Masahiro Nakamura, Misato Nishikawa, Yoshinori Yoshida, Azusa Tanaka, Asuka Morizane, Masayoshi Kamon, Toshiyuki Araki, Masanori P Takahashi, Akira Watanabe, Nobuya Inagaki, Hidetoshi Sakurai
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK). The expanded CTG repeats are unstable and can increase the length of the gene with age, which worsens the symptoms. In order to establish a human stem cell system suitable for the investigation of repeat instability, DM1 patient-derived iPSCs were generated and differentiated into three cell types commonly affected in DM1, namely cardiomyocytes, neurons and myocytes...
February 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211878/pre-descemets-endothelial-keratoplasty-the-pdek-clamp-for-successful-pdek
#12
H S Dua, D G Said
PurposeTo design and produce a clamp that enables good handling of donor sclera-corneal disks, allows air to be injected in the corneal stroma and consistently provides pre-Descemets endothelial keratoplasty (PDEK) tissue by creation of a type-1 big bubble (BB) avoiding a type-2BB by shutting the fenestrations in the periphery of the pre-Descemets layer and preventing escape of air.Patients and methodsA clamp with spring loaded handles attached to two rings of 9 mm diameter and 1 mm width with a side port for insertion of a needle for air injection was designed and produced...
February 17, 2017: Eye
https://www.readbyqxmd.com/read/28211827/association-between-gait-variability-falls-and-mobility-in-people-with-multiple-sclerosis-a-specific-observation-on-the-edss-4-0-4-5-level
#13
Alon Kalron
BACKGROUND: We previously demonstrated that gait variability increases throughout the disease process in people with multiple sclerosis (PwMS). While gait variability tends to remain steady in the lower levels of disability, a significant increase occurs once patients reach the moderate neurological level. OBJECTIVE: To examine the relationship between variability of major spatio-temporal parameters of gait and falls, in PwMS with an expanded disability status scale score of 4...
February 13, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28211711/impact-of-laser-beam-speckle-structure-on-crossed-beam-energy-transfer-via-beam-deflections-and-ponderomotive-self-focusing
#14
G Raj, S Hüller
The role of laser speckle structure (hot spots) and its ponderomotive self-focusing (PSF), in crossed beam energy transfer (CBET), of smoothed laser beams is investigated in an inhomogeneous expanding plasma. Numerical simulations using the code harmony in two spatial dimensions, demonstrate how self-focusing of laser hot spots in crossed beams can significantly affect the transfer of energy from one beam to the other in addition to the stimulated Brillouin scattering (SBS) process. It is shown that for sufficiently intense laser beams, when the laser hot spots exceed the criterion for self-focusing in a plasma with flow, the angular spread of transmitted light beams increases considerably with the intensity, which arises in particular, in expanding plasma where significant beam deflection is observed...
February 3, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/28211694/topochemical-approach-for-transition-metal-exchange-assisted-by-copper-extrusion-from-cu2febo5-to-fe3bo5
#15
Christine Martin, Antoine Maignan, Anne Guesdon, Fabien Lainé, Oleg I Lebedev
All fields of today's technology are concerned with multifunctional materials, the subject of constantly expanding research. Among them, metal transition oxides occupy a strategic place because of the properties directly correlated with metal valence linked with oxygen stoichiometry. To enhance or induce new properties, knowledge of the relationships between the structural and physical characteristics is of prime importance, but a design at low scale also appears to be a powerful tool to increase the chemical reactivity and stabilize new compounds...
February 17, 2017: Inorganic Chemistry
https://www.readbyqxmd.com/read/28211691/lipophilized-grape-seed-proanthocyanidin-derivatives-as-novel-antioxidants
#16
Mingshun Chen, Shujuan Yu
Grape seed proanthocyanidin (GSP) is a natural food antioxidant. Natural proanthocyanidins (PC) in grape seed are usually polyhydroxy derivatives which exhibit hydrophilic character. GSP was modified structurally to improve its lipophilicity, expand its application in lipophilic media, and enhance its cellular absorption in vivo. Esterification of the water-soluble GSP was prepared by immobilized lipase Lipozyme TL IM with lauric acid, and their enhanced lipophilicity was confirmed by the 1-octanol/water partition coefficient...
February 17, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/28211681/proton-coupled-electron-transfer-and-the-linear-approximation-for-coupling-to-the-donor-acceptor-distance-fluctuations
#17
Bridget Salna, Abdelkrim Benabbas, Paul M Champion
The often-used "linear approximation" for treating the coupling of donor-acceptor (D-A) distance fluctuations to proton-coupled electron transfer tunneling reactions, is systematically examined. The accuracy of this approximation is found to depend upon the potential energy surfaces that are used to describe both the tunneling particle vibrations and the D-A coordinate probability distribution. A harmonic treatment of both the tunneling particle and the D-A coordinates results in a significant breakdown of the linear approximation when the width of the D-A distribution exceeds ~0...
February 17, 2017: Journal of Physical Chemistry. A
https://www.readbyqxmd.com/read/28211596/the-structure-of-adult-adhd
#18
Lenard A Adler, Stephen V Faraone, Thomas J Spencer, Patricia Berglund, Samuel Alperin, Ronald C Kessler
Although DSM-5 stipulates that symptoms of attention-deficit hyperactivity disorder (ADHD) are the same for adults as children, clinical observations suggest that adults have more diverse deficits than children in higher-level executive functioning and emotional control. Previous psychometric analyses to evaluate these observations have been limited in ways addressed in the current study, which analyzes the structure of an expanded set of adult ADHD symptoms in three pooled US samples: a national household sample, a sample of health plan members, and a sample of adults referred for evaluation at an adult ADHD clinic...
February 17, 2017: International Journal of Methods in Psychiatric Research
https://www.readbyqxmd.com/read/28211461/a-xandarellid-artiopodan-from-morocco-a-middle-cambrian-link-between-soft-bodied-euarthropod-communities-in-north-africa-and-south-china
#19
Javier Ortega-Hernández, Abdelfattah Azizi, Thomas W Hearing, Thomas H P Harvey, Gregory D Edgecombe, Ahmid Hafid, Khadija El Hariri
Xandarellida is a well-defined clade of Lower Palaeozoic non-biomineralized artiopodans that is exclusively known from the early Cambrian (Stage 3) Chengjiang biota of South China. Here we describe a new member of this group, Xandarella mauretanica sp. nov., from the middle Cambrian (Stage 5) Tatelt Formation of Morocco, making this the first non-trilobite Cambrian euarthropod known from North Africa. X. mauretanica sp. nov. represents the youngest occurrence of Xandarellida - extending its stratigraphic range by approximately 10 million years - and expands the palaeobiogeographic distribution of the group to the high southern palaeolatitudes of West Gondwana...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28211458/molecular-genetic-and-clinical-evaluation-of-three-chinese-families-with-x-linked-ocular-albinism
#20
Xuan Zou, Hui Li, Lizhu Yang, Zixi Sun, Zhisheng Yuan, Huajin Li, Ruifang Sui
X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three novel mutations, c.333_360+14del42insCTT, c.276G>A (p.W92X), and c.793C>T (p.R265X), were identified in GPR143 by PCR followed by Sanger sequencing in these families. All affected individuals presented with nystagmus, photophobia, poor visual acuity, foveal hypoplasia and varying degrees of hypopigmentation of the fundus...
February 17, 2017: Scientific Reports
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