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https://www.readbyqxmd.com/read/29342401/matched-placental-and-circulating-plasmodium-falciparum-parasites-are-genetically-homologous-at-the-var2csa-id1-dbl2x-locus-by-deep-sequencing
#1
Andreea Waltmann, Jaymin C Patel, Kyaw L Thwai, Nicholas J Hathaway, Christian M Parobek, Achille Massougbodji, Nadine Fievet, Jeffery A Bailey, Philippe Deloron, Jonathan J Juliano, Nicaise Tuikue Ndam, Steven R Meshnick
In pregnancy-associated malaria, infected erythrocytes accumulate in the placenta. It is unclear if in polyclonal infections this results in distinct peripheral and placental parasite populations. We used long amplicon deep sequencing of Plasmodium falciparum var2csa ID1-DBL2X from 15 matched peripheral and placental samples collected at delivery from a high transmission area to determine genetic homology. Despite substantial sequence variation and detecting 23 haplotypes, the matched pairs mostly contained the same genetic variants, with 11 pairs sharing 100% of their variants, whereas others showed some heterogeneity...
January 2018: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29342318/optical-structural-analysis-of-individual-%C3%AE-synuclein-oligomers
#2
Juan Alberto Varela, Margarida Rodrigues, Suman De, Patrick Flagmeier, Sonia Gandhi, Christopher M Dobson, David Klenerman, Steven Lee
Small aggregates of misfolded proteins play a key role in neurodegenerative disorders. Such species are difficult to study due to the lack of methods capable of resolving these heterogeneous aggregates, which are smaller than the optical diffraction limit. We demonstrate here an all-optical fluorescence microscopy method to characterise the structure of individual protein-aggregates based on the fluorescence anisotropy of dyes such as thioflavin-T, and show that this technology is capable of studying oligomers in human biofluids such as cerebrospinal fluid...
January 17, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29342309/prognostic-power-of-a-tumor-differentiation-gene-signature-for-bladder-urothelial-carcinomas
#3
Qianxing Mo, Fotis Nikolos, Fengju Chen, Zoe Tramel, Yu-Cheng Lee, Kazukuni Hayashi, Jing Xiao, Jianjun Shen, Keith Syson Chan
Background: Muscle-invasive bladder cancers (MIBCs) cause approximately 150 000 deaths per year worldwide. Survival for MIBC patients is heterogeneous, with no clinically validated molecular markers that predict clinical outcome. Non-MIBCs (NMIBCs) generally have favorable outcome; however, a portion progress to MIBC. Hence, development of a prognostic tool that can guide decision-making is crucial for improving clinical management of bladder urothelial carcinomas. Methods: Tumor grade is defined by pathologic evaluation of tumor cell differentiation, and it often associates with clinical outcome...
January 12, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29342249/splice-expression-variation-analysis-seva-for-inter-tumor-heterogeneity-of-gene-isoform-usage-in-cancer
#4
Bahman Afsari, Theresa Guo, Michael Considine, Liliana Florea, Luciane T Kagohara, Genevieve L Stein-O'Brien, Dylan Kelley, Emily Flam, Kristina D Zambo, Patrick K Ha, Donald Geman, Michael F Ochs, Joseph A Califano, Daria A Gaykalova, Alexander V Favorov, Elana J Fertig
Motivation: Current bioinformatics methods to detect changes in gene isoform usage in distinct phenotypes compare the relative expected isoform usage in phenotypes. These statistics model differences in isoform usage in normal tissues, which have stable regulation of gene splicing. Pathological conditions, such as cancer, can have broken regulation of splicing that increases the heterogeneity of the expression of splice variants. Inferring events with such differential heterogeneity in gene isoform usage requires new statistical approaches...
January 12, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29342231/mapping-gene-regulatory-networks-from-single-cell-omics-data
#5
Mark W E J Fiers, Liesbeth Minnoye, Sara Aibar, Carmen Bravo González-Blas, Zeynep Kalender Atak, Stein Aerts
Single-cell techniques are advancing rapidly and are yielding unprecedented insight into cellular heterogeneity. Mapping the gene regulatory networks (GRNs) underlying cell states provides attractive opportunities to mechanistically understand this heterogeneity. In this review, we discuss recently emerging methods to map GRNs from single-cell transcriptomics data, tackling the challenge of increased noise levels and data sparsity compared with bulk data, alongside increasing data volumes. Next, we discuss how new techniques for single-cell epigenomics, such as single-cell ATAC-seq and single-cell DNA methylation profiling, can be used to decipher gene regulatory programmes...
January 12, 2018: Briefings in Functional Genomics
https://www.readbyqxmd.com/read/29342188/comparative-analysis-of-gene-expression-identifies-distinct-molecular-signatures-of-bone-marrow-and-periosteal-skeletal-stem-progenitor-cells
#6
Lorenzo Deveza, Laura Ortinau, Kevin Lei, Dongsu Park
Periosteum and bone marrow (BM) both contain skeletal stem/progenitor cells (SSCs) that participate in fracture repair. However, the functional difference and selective regulatory mechanisms of SSCs in different locations are unknown due to the lack of specific markers. Here, we report a comprehensive gene expression analysis of bone marrow SSCs (BM-SSCs), periosteal SSCs (P-SSCs), and more differentiated osteoprogenitors by using reporter mice expressing Interferon-inducible Mx1 and NestinGFP, previously known SSC markers...
2018: PloS One
https://www.readbyqxmd.com/read/29342176/the-handedness-of-language-directional-symmetry-breaking-of-sign-usage-in-words
#7
Md Izhar Ashraf, Sitabhra Sinha
Language, which allows complex ideas to be communicated through symbolic sequences, is a characteristic feature of our species and manifested in a multitude of forms. Using large written corpora for many different languages and scripts, we show that the occurrence probability distributions of signs at the left and right ends of words have a distinct heterogeneous nature. Characterizing this asymmetry using quantitative inequality measures, viz. information entropy and the Gini index, we show that the beginning of a word is less restrictive in sign usage than the end...
2018: PloS One
https://www.readbyqxmd.com/read/29341895/prenatal-paracetamol-exposure-and-child-neurodevelopment-a-review
#8
REVIEW
Ann Z Bauer, David Kriebel, Martha R Herbert, Carl-Gustaf Bornehag, Shanna H Swan
BACKGROUND: The non-prescription medication paracetamol (acetaminophen, APAP) is currently recommended as a safe pain and fever treatment during pregnancy. However, recent studies suggest a possible association between APAP use in pregnancy and offspring neurodevelopment. OBJECTIVES: To conduct a review of publications reporting associations between prenatal APAP use and offspring neurodevelopmental outcomes. METHODS: Relevant sources were identified through a key word search of multiple databases (Medline, CINAHL, OVID and TOXNET) in September 2016...
January 13, 2018: Hormones and Behavior
https://www.readbyqxmd.com/read/29341878/concentrations-of-arsenic-and-lead-in-rice-oryza-sativa-l-in-iran-a-systematic-review-and-carcinogenic-risk-assessment
#9
Yadolah Fakhri, Geir Bjørklund, Anoushiravan Mohseni Bandpei, Salvatore Chirumbolo, Hassan Keramati, Rokhsane Hosseini Pouya, Anvar Asadi, Nazak Amanidaz, Mansour Sarafraz, Amir Sheikhmohammadi, Zahra Baninameh, Seyed Mohsen Mohseni, Maryam Sarkhosh, Seyed Mehdi Ghasemi
Exposure to heavy metals such as arsenic (As), lead (Pb), and cadmium (Cd) in either the short or the long term can cause cancers in humans. Dietary intake and consumption of rice (Oryza sativa L.) is increasing in Iran, and several studies on the concentration of heavy metals in rice have been carried out in this country in recent years. In this perspective, the main objective of the present study was to investigate, even via a meta-analysis of the existing literature, the presence of As and Pb in rice from many geographical areas in Iran, as well as to estimate the carcinogenic risk of these heavy metals in rice consumers...
January 13, 2018: Food and Chemical Toxicology
https://www.readbyqxmd.com/read/29341743/size-dependent-localization-in-polydisperse-colloidal-glasses
#10
D Heckendorf, K J Mutch, S U Egelhaaf, M Laurati
We have investigated concentrated suspensions of polydisperse hard spheres and have determined the dynamics and sizes of individual particles using confocal microscopy. With increasing concentration, the dynamics of the small and large particles start to differ. The large particles exhibit slower dynamics and stronger localization. Moreover, as the particle size increases, the local volume fraction ϕ_{loc} also increases. In the glass state, the localization length significantly decreases beyond ϕ_{loc}≈0...
July 28, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29341697/large-scale-structure-and-hyperuniformity-of-amorphous-ices
#11
Fausto Martelli, Salvatore Torquato, Nicolas Giovambattista, Roberto Car
We investigate the large-scale structure of amorphous ices and transitions between their different forms by quantifying their large-scale density fluctuations. Specifically, we simulate the isothermal compression of low-density amorphous ice (LDA) and hexagonal ice to produce high-density amorphous ice (HDA). Both HDA and LDA are nearly hyperuniform; i.e., they are characterized by an anomalous suppression of large-scale density fluctuations. By contrast, in correspondence with the nonequilibrium phase transitions to HDA, the presence of structural heterogeneities strongly suppresses the hyperuniformity and the system becomes hyposurficial (devoid of "surface-area fluctuations")...
September 29, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29341683/theory-of-thermal-relaxation-of-electrons-in-semiconductors
#12
Sridhar Sadasivam, Maria K Y Chan, Pierre Darancet
We compute the transient dynamics of phonons in contact with high energy "hot" charge carriers in 12 polar and nonpolar semiconductors, using a first-principles Boltzmann transport framework. For most materials, we find that the decay in electronic temperature departs significantly from a single-exponential model at times ranging from 1 to 15 ps after electronic excitation, a phenomenon concomitant with the appearance of nonthermal vibrational modes. We demonstrate that these effects result from slow thermalization within the phonon subsystem, caused by the large heterogeneity in the time scales of electron-phonon and phonon-phonon interactions in these materials...
September 29, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29341670/surface-polarization-effects-on-ion-containing-emulsions
#13
Meng Shen, Honghao Li, Monica Olvera de la Cruz
Surface polarization in ion-containing heterogeneous dielectric media such as cell media and emulsions is determined by and determines the positions of the ions. We compute the surface polarization self-consistently as the ions move and analyze their effects on the interactions between electro-neutral, ion-containing droplets using coarse-grained molecular dynamics simulations based on the true energy functional. For water droplets immersed in oil, the interdroplet interaction is attractive, and the surface polarization makes the major contribution...
September 29, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29341665/can-hail-and-rain-nucleate-cloud-droplets
#14
Prasanth Prabhakaran, Stephan Weiss, Alexei Krekhov, Alain Pumir, Eberhard Bodenschatz
We present results from moist convection in a mixture of pressurized sulfur hexafluoride (liquid and vapor), and helium (gas) to model the wet and dry components of the Earth's atmosphere. To allow for homogeneous nucleation, we operate the experiment close to critical conditions. We report on the nucleation of microdroplets in the wake of large cold liquid drops falling through the supersaturated atmosphere and show that the homogeneous nucleation is caused by isobaric cooling of the saturated sulfur hexafluoride vapor...
September 22, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29341497/defining-behavioral-components-of-social-functioning-in-adults-with-autism-spectrum-disorder-as-targets-for-treatment
#15
Ashley A Pallathra, Monica E Calkins, Julia Parish-Morris, Brenna B Maddox, Leat S Perez, Judith Miller, Ruben C Gur, David S Mandell, Robert T Schultz, Edward S Brodkin
There is increasing recognition that adults with autism spectrum disorder (ASD) would benefit from treatment to improve social functioning, a key factor in adults' overall quality of life. However, the various behavioral components of social functioning (i.e., categories of behaviors underlying social functioning), including social motivation, social anxiety, social cognition, and social skills, have not all been assessed together in any sample of adults with ASD, making it difficult to know the relative levels of impairment in these various categories, the relationships among these categories, or promising targets for treatments...
January 17, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29341480/cutis-laxa-and-excessive-bone-growth-due-to-de-novo-mutations-in-ptdss1
#16
Juliette Piard, James Lespinasse, Marketa Vlckova, Martin A Mensah, Sorin Iurian, Martina Simandlova, Marcela Malikova, Oliver Bartsch, Massimiliano Rossi, Marion Lenoir, Frédérique Nugues, Stefan Mundlos, Uwe Kornak, Philip Stanier, Sérgio B Sousa, Lionel Van Maldergem
The cutis laxa syndromes are multisystem disorders that share loose redundant inelastic and wrinkled skin as a common hallmark clinical feature. The underlying molecular defects are heterogeneous and 13 different genes have been involved until now, all of them being implicated in elastic fiber assembly. We provide here molecular and clinical characterization of three unrelated patients with a very rare phenotype associating cutis laxa, facial dysmorphism, severe growth retardation, hyperostotic skeletal dysplasia, and intellectual disability...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341437/phenotypic-heterogeneity-of-zmpste24-deficiency
#17
Thomas A Cassini, Amy K Robertson, Anna G Bican, Joy D Cogan, Vickie L Hannig, John H Newman, Rizwan Hamid, John A Phillips
A 4-year-old girl was referred to the Undiagnosed Diseases Network with a history of short stature, thin and translucent skin, macrocephaly, small hands, and camptodactyly. She had been diagnosed with possible Hallerman-Streiff syndrome. Her evaluation showed that she was mosaic for uniparental isodisomy of chromosome 1, which harbored a pathogenic c.1077dupT variant in ZMPSTE24 which predicts p.(Leu362fsX18). ZMPSTE24 is a zinc metalloproteinase that is involved in processing farnesylated proteins and pathogenic ZMPSTE24 variants cause accumulation of abnormal farnesylated forms of prelamin A...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341397/bi-allelic-mutations-of-ccdc88c-are-a-rare-cause-of-severe-congenital-hydrocephalus
#18
Gaia Ruggeri, Andrew E Timms, Chi Cheng, Avery Weiss, Peter Kollros, Teresa Chapman, Hannah Tully, Ghayda M Mirzaa
Congenital or infantile hydrocephalus is caused by genetic and non-genetic factors and is highly heterogeneous in etiology. In recent studies, a limited number of genetic causes of hydrocephalus have been identified. To date, recessive mutations in the CCDC88C gene have been identified as a cause of non-syndromic congenital hydrocephalus in three reported families. Here, we report the fourth known family with two affected individuals with congenital hydrocephalus due to a homozygous mutation in the CCDC88C gene identified by whole exome sequencing...
January 17, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29341383/co2-triggered-switchable-hydrophilicity-of-heterogeneous-conjugated-polymer-photocatalyst-for-enhanced-catalytic-activity-in-water
#19
Jeehye Byun, Wei Huang, Di Wang, Run Li, Kai A I Zhang
Water-compatibility of heterogeneous photocatalysts has been pursued for energy and environmental applications. However, there exists a trade-off between hydrophilicity and recyclability of the photocatalyst. Herein, we report a conjugated polymer photocatalyst with tertiary amine terminals that reversibly binds CO2 in water, generating a switchable hydrophilicity. The CO2-assisted hydrophilicity boosted up the photocatalytic efficiency in aqueous medium with minimum dosage. When CO2 was desorbed, the photocatalyst could be simply regenerated from reaction media, facilitating the repeated use of photocatalyst...
January 17, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29341209/identification-of-gaps-in-the-current-knowledge-on-pulmonary-hypertension-in-extremely-preterm-infants-a-systematic-review-and-meta-analysis
#20
REVIEW
Sanne Arjaans, Elvira A H Zwart, Mark-Jan Ploegstra, Arend F Bos, Elisabeth M W Kooi, Hans L Hillege, Rolf M F Berger
BACKGROUND: Pulmonary hypertension complicates the clinical course of extremely preterm infants and is associated with bronchopulmonary dysplasia (BPD). However, prevalence, risk factors, and outcome of pulmonary hypertension in these infants are insufficiently known. This systematic review and meta-analysis aims to provide an up-to-date overview of available data on prevalence, risk factors, and outcome of pulmonary hypertension and to identify current knowledge gaps. METHODS: Medline, EMBASE, and the Cochrane Library databases were searched in July 2017...
January 17, 2018: Paediatric and Perinatal Epidemiology
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