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https://www.readbyqxmd.com/read/28805541/lack-of-foxe3-coding-mutation-in-a-case-of-congenital-aphakia
#1
Yusuke Sano, Yusuke Matsukane, Akihisa Watanabe, Ko-Hei Sonoda, Hiroyuki Kondo
PURPOSE: To report the findings in a patient with congenital primary aphakia, a rare disease known to be caused by mutations in the FOXE3 gene. METHODS: The clinical appearances and visual functions of the patient were determined from the medical records. Genetic analyses were performed to search for mutations in the FOXE3 gene by Sanger sequencing and whole exome sequencing. RESULTS: The 2-month-old male patient first presented with bilateral congenital aphakia associated with microphthalmia, corneal opacity, and dysplasia of the anterior segment...
August 14, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28791769/fluorescent-polymer-nanoparticles-for-cell-barcoding-in-vitro-and-in-vivo
#2
Bohdan Andreiuk, Andreas Reisch, Marion Lindecker, Gautier Follain, Nadine Peyriéras, Jacky G Goetz, Andrey S Klymchenko
Fluorescent polymer nanoparticles for long-term labeling and tracking of living cells with any desired color code are developed. They are built from biodegradable poly(lactic-co-glycolic acid) polymer loaded with cyanine dyes (DiO, DiI, and DiD) with the help of bulky fluorinated counterions, which minimize aggregation-caused quenching. At the single particle level, these particles are ≈20-fold brighter than quantum dots of similar color. Due to their identical 40 nm size and surface properties, these nanoparticles are endocytosed equally well by living cells...
August 9, 2017: Small
https://www.readbyqxmd.com/read/28790342/smartphone-based-multi-contrast-microscope-using-color-multiplexed-illumination
#3
Daeseong Jung, Jun-Ho Choi, Soocheol Kim, Suho Ryu, Wonchan Lee, Jong-Seok Lee, Chulmin Joo
We present a portable multi-contrast microscope capable of producing bright-field, dark-field, and differential phase contrast images of thin biological specimens on a smartphone platform. The microscopy method is based on an imaging scheme termed "color-coded light-emitting-diode (LED) microscopy (cLEDscope)," in which a specimen is illuminated with a color-coded LED array and light transmitted through the specimen is recorded by a color image sensor. Decomposition of the image into red, green, and blue colors and subsequent computation enable multi-contrast imaging in a single shot...
August 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28783809/macroscopic-t-wave-alternans-a-red-flag-for-code-blue
#4
Peter K Moore, Katie E Raffel, Isaac R Whitman
No abstract text is available yet for this article.
August 7, 2017: JAMA Internal Medicine
https://www.readbyqxmd.com/read/28734561/avoiding-adult-in-hospital-cardiac-arrest-a-retrospective-cohort-study-to-determine-preventability
#5
Gordon Bingham, Irma Bilgrami, Mandy Sandford, Sarah Larwill, Judit Orosz, Carl Luckhoff, Tony Kambourakis
INTRODUCTION: This study had three main aims. Develop a methodology for reviewing in-hospital cardiac arrests (IHCA). Assess appropriateness and potential preventability of IHCAs. Identify areas for improvement within the rapid response system (RRS). DESIGN: A retrospective cohort study of IHCA identified from an existing organisational electronic database of medical emergency (MET) and Code Blue team activation. Potential preventability of IHCA and Code Blue team activation were established by an expert panel based on a standardised case review process with descriptive and content analyses for each IHCA event...
July 19, 2017: Australian Critical Care: Official Journal of the Confederation of Australian Critical Care Nurses
https://www.readbyqxmd.com/read/28686209/detailed-characterization-of-sympathetic-chain-ganglia-schg-neurons-supplying-the-skin-of-the-porcine-hindlimb
#6
Anna Kozłowska, Anita Mikołajczyk, Mariusz Majewski
It is generally known that in the skin sympathetic fibers innervate various dermal structures, including sweat glands, blood vessels, arrectores pilorum muscles and hair follicles. However, there is a lack of data about the distribution and chemical phenotyping of the sympathetic chain ganglia (SChG) neurons projecting to the skin of the pig, a model that is physiologically and anatomically very representative for humans. Thus, the present study was designed to establish the origin of the sympathetic fibers supplying the porcine skin of the hind leg, and the pattern(s) of putative co-incidence of dopamine-β-hydroxylase (DβH) with pituitary adenylate cyclase-activating polypeptide (PACAP), somatostatin (SOM), neuronal nitric oxide synthase, substance P, vasoactive intestinal peptide, neuropeptide Y (NPY), leu5-enkephalin and galanin (GAL) using combined retrograde tracing and double-labeling immunohistochemistry...
July 7, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28612427/simulation-based-investigation-of-deleterious-nssnp-s-in-atxn2-gene-and-its-structural-consequence-towards-spinocerebellar-ataxia
#7
Siddharth Sinha, Sharad Verma, Aditi Singh, Pallavi Somvanshi, Abhinav Grover
Spinocerebellar degeneration, termed as ataxia is a neurological disorder of central nervous system, characterized by limb in-coordination and a progressive gait. The patient also demonstrates specific symptoms of muscle weakness, slurring of speech, and decreased vibration senses. Expansion of polyglutamine trinucleotide (CAG) within ATXN2 gene with 35 or more repeats, results in spinocerebellar ataxia type-2. Protein ataxin-2 coded by ATXN2 gene has been reported to have a crucial role in translation of the genetic information through sequestering the histone acetyl transferases (HAT) resulting in a state of hypo-acetylation...
June 14, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28598105/-genetic-recombiniation-and-protein-expression-detection-of-listeria-based-tuberculosis-vaccine-candidates
#8
Chen-Yan Ren, Si-Jing Liu, Qi-Kang Pu, Ming-Juan Jiang, Meng-Ying Zhou, Chuan Wang
OBJECTIVES: Genetic construction of tuberculosis vaccine candidates based on Listeria(L.) monocytogenes,L.ivanovii,and evaluation their protein expression,in order to provide a novel method for research on tuberculosis controlling. METHODS: Two kinds of gene cassettes carrying tuberculosis antigen encoding gene Rv3875 or Rv0129c were inserted into targeting vector harboring L.monocytogenes,L.ivanovii homologous sequences via genetic connection methods and plasmid transformation technology in vitro...
November 2016: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28596758/a-functional-metagenomic-analysis-of-tetracycline-resistance-in-cheese-bacteria
#9
Ana B Flórez, Lucía Vázquez, Baltasar Mayo
Metagenomic techniques have been successfully used to monitor antibiotic resistance genes in environmental, animal and human ecosystems. However, despite the claim that the food chain plays a key role in the spread of antibiotic resistance, metagenomic analysis has scarcely been used to investigate food systems. The present work reports a functional metagenomic analysis of the prevalence and evolution of tetracycline resistance determinants in a raw-milk, blue-veined cheese during manufacturing and ripening...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28580356/fungal-histidine-phosphotransferase-plays-a-crucial-role-in-photomorphogenesis-and-pathogenesis-in-magnaporthe-oryzae
#10
Varsha C Mohanan, Pinal M Chandarana, Bharat B Chattoo, Rajesh N Patkar, Johannes Manjrekar
Two-component signal transduction (TCST) pathways play crucial roles in many cellular functions such as stress responses, biofilm formation, and sporulation. The histidine phosphotransferase (HPt), which is an intermediate phosphotransfer protein in a two-component system, transfers a phosphate group to a phosphorylatable aspartate residue in the target protein(s), and up-regulates stress-activated MAP kinase cascades. Most fungal genomes carry a single copy of the gene coding for HPt, which are potential antifungal targets...
2017: Frontiers in Chemistry
https://www.readbyqxmd.com/read/28554383/high-level-expression-of-a-bacterial-laccase-cueo-from-escherichia-coli-k12-in-pichia-pastoris-gs115-and-its-application-on-the-decolorization-of-synthetic-dyes
#11
Xiaojian Ma, Lu Liu, Qingqing Li, Yunyun Liu, Li Yi, Lixin Ma, Chao Zhai
Laccases are oxidoreductase catalyze the oxidation of a wide range of substrates with oxygen as the electron acceptor. This report was aimed to the high-level expression of a laccase, CueO from Escherichia coli K12 in Pichia pastoris GS115 and its application on decolorization of synthetic dyes. The yacK gene coding CueO was cloned into an expression vector of Pichia pastoris, pHBM905BDM and expressed in a secretory form with Pichia pastoris GS115 as the host. The yield of the recombinant protein was 556mg/L with high-density fermentation and the enzyme activity was about 41,000U/L...
August 2017: Enzyme and Microbial Technology
https://www.readbyqxmd.com/read/28538574/sparing-a-craniotomy-the-role-of-intraoperative-methylene-blue-in-management-of-midline-dermoid-cysts
#12
Alannah L Phelan, Christine M Jones, Ashley S Ceschini, Cathy R Henry, Donald R Mackay, Thomas D Samson
BACKGROUND: Midline nasal dermoid cysts are rare congenital anomalies that extend intracranially in approximately 10 percent of cases. Cysts with intracranial extension require a craniotomy to avoid long-term complications, including meningitis, abscesses, and cavernous sinus thrombosis. Current guidelines recommend preoperative imaging with either magnetic resonance imaging or computed tomography to determine appropriate management. METHODS: Patients who underwent excision of a midline nasal dermoid cyst between January 1995 and September 2016 were identified using Current Procedural Terminology codes...
June 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28528902/x-cells-are-globally-distributed-genetically-divergent-fish-parasites-related-to-perkinsids-and-dinoflagellates
#13
Mark A Freeman, Janina Fuss, Árni Kristmundsson, Marit F M Bjorbækmo, Jean-François Mangot, Javier Del Campo, Patrick J Keeling, Kamran Shalchian-Tabrizi, David Bass
"X-cells" have long been associated with tumor-like formations (xenomas) in marine fish, including many of commercial interest. The name was first used to refer to the large polygonal cells that were found in epidermal xenomas from flatfish from the Pacific Northwest [1]. Similar looking cells from pseudobranchial xenomas had previously been reported from cod in the Atlantic [2] and Pacific Oceans [3]. X-cell pathologies have been reported from five teleost orders: Pleuronectiformes (flatfish), Perciformes (perch-like fish), Gadiformes (cods), Siluriformes (catfish), and Salmoniformes (salmonids)...
June 5, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28516000/role-of-a-dual-splicing-and-amino-acid-code-in-myopia-cone-dysfunction-and-cone-dystrophy-associated-with-l-m-opsin-interchange-mutations
#14
Scott H Greenwald, James A Kuchenbecker, Jessica S Rowlan, Jay Neitz, Maureen Neitz
PURPOSE: Human long (L) and middle (M) wavelength cone opsin genes are highly variable due to intermixing. Two L/M cone opsin interchange mutants, designated LIAVA and LVAVA, are associated with clinical diagnoses, including red-green color vision deficiency, blue cone monochromacy, cone degeneration, myopia, and Bornholm Eye Disease. Because the protein and splicing codes are carried by the same nucleotides, intermixing L and M genes can cause disease by affecting protein structure and splicing...
May 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28513707/systematic-study-of-interdependent-relationship-on-gold-nanorod-synthesis-assisted-by-electron-microscopy-image-analysis
#15
Seokyoung Yoon, Byoungsang Lee, Jaesub Yun, Jeon Geon Han, Jong-Seok Lee, Jung Heon Lee
Here, we systematically investigated the independent, multiple, and synergic effects of three major components, namely, ascorbic acid (AA), seed, and silver ions (Ag(+)), on the characteristics of gold nanorods (GNRs), i.e., longitudinal localized surface plasmon resonance (LSPR) peak position, shape, size, and monodispersity. To quantitatively assess the shape and dimensions of GNRs, we used an automated transmission electron microscopy image analysis method using a MATLAB-based code developed in-house and the concept of solidity, which is the ratio between the area of a GNR and the area of its convex hull...
June 1, 2017: Nanoscale
https://www.readbyqxmd.com/read/28470855/combined-quantum-mechanical-molecular-mechanics-calculations-with-nwchem-and-amber-excited-state-properties-of-green-fluorescent-protein-chromophore-analogue-in-aqueous-solution
#16
Teerapong Pirojsirikul, Andreas W Götz, John Weare, Ross C Walker, Karol Kowalski, Marat Valiev
Combined quantum mechanical molecular mechanics (QM/MM) calculations have become a popular methodology for efficient and accurate description of large molecular systems. In this work we introduce our development of a QM/MM framework based on two well-known codes-NWChem and AMBER. As an initial application area we are focused on excited state properties of small molecules in an aqueous phase using an analogue of the green fluorescent protein (GFP) chromophore as a particular test case. Our approach incorporates high level coupled cluster theory for the analysis of excited states providing a reliable theoretical analysis of effects of an aqueous solvation environment on the photochemical properties of the GFP chromophore...
May 3, 2017: Journal of Computational Chemistry
https://www.readbyqxmd.com/read/28463327/enhancing-spatio-chromatic-representation-with-more-than-three-color-coding-for-image-description
#17
Ivet Rafegas, Javier Vazquez-Corral, Robert Benavente, Maria Vanrell, Susana Alvarez
The extraction of spatio-chromatic features from color images is usually performed independently on each color channel. Usual 3D color spaces, such as RGB, present a high inter-channel correlation for natural images. This correlation can be reduced using color-opponent representations, but the spatial structure of regions with small color differences is not fully captured in two generic Red-Green and Blue-Yellow channels. To overcome these problems, we propose new color coding that is adapted to the specific content of each image...
May 1, 2017: Journal of the Optical Society of America. A, Optics, Image Science, and Vision
https://www.readbyqxmd.com/read/28457509/haplotypes-from-the-slc45a2-gene-are-associated-with-the-presence-of-freckles-and-eye-hair-and-skin-pigmentation-in-brazil
#18
Nádia Carolina de Aguiar Fracasso, Edilene Santos de Andrade, Cláudia Emília Vieira Wiezel, Claudia Caixeta Franco Andrade, Lídia Renata Zanão, Mateus Spinelli da Silva, Leonardo Arduino Marano, Eduardo Antônio Donadi, Erick C Castelli, Aguinaldo Luiz Simões, Celso Teixeira Mendes-Junior
The Solute Carrier Family 45, Member 2 (SLC45A2) gene encodes the Membrane-Associated Transporter Protein (MATP), which mediates melanin synthesis by tyrosinase trafficking and proton transportation to melanosomes. At least two SLC45A2 coding SNPs [E272K (rs26722) and L374F (rs16891982)] were reported influencing normal variation of human pigmentation. Here we aimed at evaluating the influence of haplotypes of 12 SNPs within SLC45A2 in the determination of eye, hair and skin pigmentation in a highly admixed population sample and comparing their frequencies with the ones found in data retrieved from the 1000 Genomes Project...
March 2017: Legal Medicine
https://www.readbyqxmd.com/read/28455122/kids-cam-an-objective-methodology-to-study-the-world-in-which-children-live
#19
Louise N Signal, Moira B Smith, Michelle Barr, James Stanley, Tim J Chambers, Jiang Zhou, Aaron Duane, Gabrielle L S Jenkin, Amber L Pearson, Cathal Gurrin, Alan F Smeaton, Janet Hoek, Cliona Ni Mhurchu
INTRODUCTION: This paper reports on a new methodology to objectively study the world in which children live. The primary research study (Kids'Cam Food Marketing) illustrates the method; numerous ancillary studies include exploration of children's exposure to alcohol, smoking, "blue" space and gambling, and their use of "green" space, transport, and sun protection. METHODS: One hundred sixty-eight randomly selected children (aged 11-13 years) recruited from 16 randomly selected schools in Wellington, New Zealand used wearable cameras and GPS units for 4 days, recording imagery every 7 seconds and longitude/latitude locations every 5 seconds...
April 25, 2017: American Journal of Preventive Medicine
https://www.readbyqxmd.com/read/28407788/absence-of-neurological-abnormalities-in-mice-homozygous-for-the-polr3a-g672e-hypomyelinating-leukodystrophy-mutation
#20
Karine Choquet, Sharon Yang, Robyn D Moir, Diane Forget, Roxanne Larivière, Annie Bouchard, Christian Poitras, Nicolas Sgarioto, Marie-Josée Dicaire, Forough Noohi, Timothy E Kennedy, Joseph Rochford, Geneviève Bernard, Martin Teichmann, Benoit Coulombe, Ian M Willis, Claudia L Kleinman, Bernard Brais
Recessive mutations in the ubiquitously expressed POLR3A gene cause one of the most frequent forms of childhood-onset hypomyelinating leukodystrophy (HLD): POLR3-HLD. POLR3A encodes the largest subunit of RNA Polymerase III (Pol III), which is responsible for the transcription of transfer RNAs (tRNAs) and a large array of other small non-coding RNAs. In order to study the central nervous system pathophysiology of the disease, we introduced the French Canadian founder Polr3a mutation c.2015G > A (p.G672E) in mice, generating homozygous knock-in (KI/KI) as well as compound heterozygous mice for one Polr3a KI and one null allele (KI/KO)...
April 13, 2017: Molecular Brain
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