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https://www.readbyqxmd.com/read/28641396/geneticization-in-mim-omim%C3%A2-exploring-historic-and-epistemic-drivers-of-contemporary-understandings-of-genetic-disease
#1
Rachel A Ankeny
Prior to the genomic sequencing era, the bible for those working in clinical genetics was McKusick's Mendelian Inheritance in Man (MIM), which appeared in multiple editions between the 1960s and the late 1990s. This catalogue was organized according to general patterns of inheritance and focused on phenotypes. Beginning in the mid-1980s, it was replaced by Online Mendelian Inheritance in Man (OMIM®), a continuously updated catalogue documenting molecular relationships between genetic variation and phenotypic expression...
June 21, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/28641377/paternal-care-in-biparental-rodents-intra-and-inter-individual-variation
#2
Wendy Saltzman, Breanna N Harris, Trynke R De Jong, Juan P Perea-Rodriguez, Nathan D Horrell, Meng Zhao, Jacob R Andrew
Parental care by fathers, although rare among mmmals, can be essential for the survival and normal development of offspring in biparental species. A growing body of research on biparental rodents has identified several developmental and experiential influences on paternal responsiveness. Some of these factors, such as pubertal maturation, interactions with pups, and cues from a pregnant mate, contribute to pronounced changes in paternal responsiveness across the course of the lifetime in individual males. Others, particularly intrauterine position during gestation and parental care received during postnatal development, can have long-term effects on paternal behavior and contribute to stable differences among individuals within a species...
June 21, 2017: Integrative and Comparative Biology
https://www.readbyqxmd.com/read/28641367/annual-crop-yield-variation-child-survival-and-nutrition-among-subsistence-farmers-in-burkina-faso
#3
Kristine Belesova, Antonio Gasparrini, Ali Sié, Rainer Sauerborn, Paul Wilkinson
Whether year to year variation in crop yields affects the nutrition, health, and survival of subsistence farming populations is relevant to the understanding of the potential impacts of climate change. However, the empirical evidence is limited. We examined the association of child survival with inter-annual variation in food crop yield and middle-upper arm circumference (MUAC) in a subsistence farming population of rural Burkina Faso. The study was of 44,616 children < 5 years of age included in the Nouna Health and Demographic Surveillance System, 1992-2012, whose survival was analysed in relation to the food crop yield in the year of birth (which ranged from 65% to 120% of the period average) and, for a subset of 16,698 children, to MUAC, using shared frailty Cox proportional hazards models...
June 21, 2017: American Journal of Epidemiology
https://www.readbyqxmd.com/read/28641318/comment-on-the-impact-of-vitamin-d-pathway-genetic-variation-and-circulating-25-hydroxyvitamin-d-on-cancer-outcome-systematic-review-and-meta-analysis
#4
Alain Braillon
No abstract text is available yet for this article.
June 22, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28641317/reply-to-comment-on-the-impact-of-vitamin-d-pathway-genetic-variation-and-circulating-25-hydroxyvitamin-d-on-cancer-outcome-systematic-review-and-meta-analysis
#5
L Zgaga, P G Vaughan-Shaw, F O'Sullivan, S M Farrington, E Theodoratou, H Campbell, M G Dunlop
No abstract text is available yet for this article.
June 22, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28641304/hyperemesis-gravidarum-a-review-of-recent-literature
#6
Viktoriya London, Stephanie Grube, David M Sherer, Ovadia Abulafia
BACKGROUND: In the United States, hyperemesis gravidarum is the most common cause of hospitalization during the first half of pregnancy and is second only to preterm labor for hospitalizations in pregnancy overall. In approximately 0.3-3% of pregnancies, hyperemesis gravidarum is prevalent and this percentage varies on account of different diagnostic criteria and ethnic variation in study populations. Despite extensive research in this field, the mechanism of the disease is largely unknown...
June 23, 2017: Pharmacology
https://www.readbyqxmd.com/read/28641255/piecewise-linear-approximation-of-vector-valued-images-and-curves-via-2nd-order-variational-model
#7
Massimo Zanetti, Lorenzo Bruzzone
Variational models are known to work well for addressing image restoration/regularization problems. However, most of the methods proposed in literature are defined for scalar inputs and are used on multiband images (such as RGB or multispectral imagery) by the composition of a simple band-wise processing. This involves suboptimal results and may introduce artifacts. Only in a few cases variational models are extended to the case of vector-valued inputs. However, the known implementations are restricted to 1st-order models, while 2nd-order models are never considered...
June 16, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28641251/robust-face-recognition-with-kernelized-locality-sensitive-group-sparsity-representation
#8
Shoubiao Tan, Xi Sun, Wentao Chan, Lei Qu, Ling Shao
In this paper, a novel joint sparse representation method is proposed for robust face recognition. We embed both group sparsity and kernelized locality-sensitive constraints into the framework of sparse representation. The group sparsity constraint is designed to utilize the grouped structure information in the training data. The local similarity between test and training data is measured in the kernel space instead of the Euclidian space. As a result, the embedded nonlinear information can be effectively captured, leading to a more discriminative representation...
June 15, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28641250/deep-convolutional-neural-network-for-inverse-problems-in-imaging
#9
Kyong Hwan Jin, Michael T McCann, Emmanuel Froustey, Michael Unser
In this paper, we propose a novel deep convolutional neural network (CNN)-based algorithm for solving ill-posed inverse problems. Regularized iterative algorithms have emerged as the standard approach to ill-posed inverse problems in the past few decades. These methods produce excellent results, but can be challenging to deploy in practice due to factors including the high computational cost of the forward and adjoint operators and the difficulty of hyper parameter selection. The starting point of our work is the observation that unrolled iterative methods have the form of a CNN (filtering followed by point-wise nonlinearity) when the normal operator ( H*H where H* is the adjoint of the forward imaging operator, H ) of the forward model is a convolution...
June 15, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28641246/gracker-a-graph-based-planar-object-tracker
#10
Tao Wang, Haibin Ling
Matching-based algorithms have been commonly used in planar object tracking. They often model a planar object as a set of keypoints, and then find correspondences between keypoint sets via descriptor matching. In previous work, unary constraints on appearances or locations are usually used to guide the matching. However, these approaches rarely utilize structure information of the object, and are thus suffering from various perturbation factors. In this paper, we proposed a graph-based tracker, named Gracker, which is able to fully explore the structure information of the object to enhance tracking performance...
June 16, 2017: IEEE Transactions on Pattern Analysis and Machine Intelligence
https://www.readbyqxmd.com/read/28641204/towards-dosimetry-for-photodynamic-diagnosis-with-the-low-level-dose-of-photosensitizer
#11
Igor Buzalewicz, Iwona Hołowacz, Agnieszka Ulatowska-Jarża, Halina Podbielska
BACKGROUND: Contemporary medicine does not concern the issue of dosimetry in photodynamic diagnosis (PDD) but follows the photosensitizer (PS) producers recommendation. Most preclinical and clinical PDD studies indicate a considerable variation in the possibility of visualization and treatment, as e.g. in case of cervix lesions. Although some of these variations can be caused by the different histological subtypes or various tumor geometries, the issue of varying PS concentration in the tumor tissue volume is definitely an important factor...
June 15, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28641193/acute-hemobilia-from-a-pseudoaneurysm-of-the-cystic-artery-arising-from-the-left-hepatic-artery-case-report-and-literature-review
#12
Claudia Trombatore, Roberto Scilletta, Noemi Bellavia, Pietro Trombatore, Vincenzo Magnano S Lio, Giuseppe Petrillo, Antonio Di Cataldo
INTRODUCTION: Hemobilia represents only 6% of all causes of upper gastrointestinal bleeding. PRESENTATION OF CASE: We report a rare case of a bleeding pseudoaneurysm of the cystic artery, due to a re-activation of a chronic cholecystitis, which arose with a mixed symptomatology: jaundices and hematemesis. DISCUSSION: The rarity of our patient is increased for some vascular anatomic variations detected by Computed Tomography that influenced the management of the disease...
June 13, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28641183/size-partitioning-and-mixing-behavior-of-trace-metals-and-dissolved-organic-matter-in-a-south-china-estuary
#13
Wenhao Wang, Min Chen, Laodong Guo, Wen-Xiong Wang
The Jiulong River estuary, located in the southeastern China, suffered from metal pollution due to industrial effluent releases. Mixing of effluent and estuarine water may have significantly affected the size distribution of trace metals and their environmental fate. In the present study, colloidal size distribution of organic matter and selected metals were quantified using asymmetric flow field-flow fractionation (AF4) and ICP-MS. We demonstrated a dominance of dissolved metals in the 1-10kDa fraction, and metals such as Cu, Zn, Ni, Co, Pb, Cd and Mn were mostly regulated by terrestrial fulvic acid...
June 19, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28641157/design-synthesis-and-structure-activity-relationship-studies-of-a-novel-focused-library-of-2-3-4-substituted-oxazolidines-with-antiproliferative-activity-against-cancer-cell-lines
#14
Saulo F Andrade, Bárbara G Oliveira, Larissa C Pereira, Jonas P Ramos, Angélica R Joaquim, Martin Steppe, Elaine M Souza-Fagundes, Ricardo J Alves
In the present work we describe the synthesis and antiproliferative evaluation of a focused library of 30 novel oxazolidines designed by modification of N-substituent, by ring variation, by alkyl variation or by extension of the structure. It was noted that carbamate and N,O-aminal groups were essential for activity. In general, replacement of the phenyl ring with pyridinyl was not tolerated. However, the introduction of a second phenyl ring with an appropriate spacer at the 3- or 4-position of the first phenyl ring generally enhanced the cytotoxic profile...
June 12, 2017: European Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28641151/%C3%AE-tip-aquaporin-distribution-and-size-tonoplast-variation-in-storage-cells-of-vicia-faba-cotyledons-at-seed-maturation-and-germination-stages
#15
Emile Béré, Karima Lahbib, Bruno Merceron, Pierrette Fleurat-Lessard, Néziha Ghanem Boughanmi
Vacuoles have been shown to undergo deep modifications in relation to plant developmental stages and in the maintaining the cellular homeostasis. In this context, we studied the variations of the vacuolar membrane size and α-TIP aquaporin distribution at early and advanced seed stages of maturation, germination and embryo growth in Vicia faba cotyledon storage cells.
June 1, 2017: Journal of Plant Physiology
https://www.readbyqxmd.com/read/28641135/variation-in-prevention-of-child-maltreatment-by-dutch-child-healthcare-professionals
#16
Simeon J A Visscher, Henk F van Stel
Child maltreatment (CM) is a common condition with a large impact on the victim and society. In the Netherlands, the preventive child healthcare (CHC) aims to protect children against such threats. However, several studies indicate that the efficacy in this area may be suboptimal for many CHC professionals. Therefore, this study aims to map the practice variation in the primary and secondary prevention of CM, by CHC physicians and nurses. This mixed-methods study used interviews to identify relevant topics and develop an online questionnaire...
June 19, 2017: Child Abuse & Neglect
https://www.readbyqxmd.com/read/28641109/rare-copy-number-variants-in-nrxn1-and-cntn6-increase-risk-for-tourette-syndrome
#17
Alden Y Huang, Dongmei Yu, Lea K Davis, Jae Hoon Sul, Fotis Tsetsos, Vasily Ramensky, Ivette Zelaya, Eliana Marisa Ramos, Lisa Osiecki, Jason A Chen, Lauren M McGrath, Cornelia Illmann, Paul Sandor, Cathy L Barr, Marco Grados, Harvey S Singer, Markus M Nöthen, Johannes Hebebrand, Robert A King, Yves Dion, Guy Rouleau, Cathy L Budman, Christel Depienne, Yulia Worbe, Andreas Hartmann, Kirsten R Müller-Vahl, Manfred Stuhrmann, Harald Aschauer, Mara Stamenkovic, Monika Schloegelhofer, Anastasios Konstantinidis, Gholson J Lyon, William M McMahon, Csaba Barta, Zsanett Tarnok, Peter Nagy, James R Batterson, Renata Rizzo, Danielle C Cath, Tomasz Wolanczyk, Cheston Berlin, Irene A Malaty, Michael S Okun, Douglas W Woods, Elliott Rees, Carlos N Pato, Michele T Pato, James A Knowles, Danielle Posthuma, David L Pauls, Nancy J Cox, Benjamin M Neale, Nelson B Freimer, Peristera Paschou, Carol A Mathews, Jeremiah M Scharf, Giovanni Coppola
Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641101/copy-number-variation-in-tourette-syndrome
#18
Anne S Bassett, Stephen W Scherer
In the current issue of Neuron, Huang et al. (2017) provide new insights from a consortium study of Tourette syndrome pinpointing copy number variations that are involved in the genomic architecture and implicate genes of interest.
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641057/child-anthropometry-data-quality-from-demographic-and-health-surveys-multiple-indicator-cluster-surveys-and-national-nutrition-surveys-in-the-west-central-africa-region-are-we-comparing-apples-and-oranges
#19
Daniel J Corsi, Jessica M Perkins, S V Subramanian
BACKGROUND: There has been limited work comparing survey characteristics and assessing the quality of child anthropometric data from population-based surveys. OBJECTIVE: To investigate survey characteristics and indicators of quality of anthropometric data in children aged 0-59 months from 23 countries in the West Central Africa region. METHODS: Using established methodologies and criteria to examine child age, sex, height, and weight, we conducted a comprehensive assessment and scoring of the quality of anthropometric data collected in 100 national surveys...
2017: Global Health Action
https://www.readbyqxmd.com/read/28641036/modelling-error-distribution-in-the-ground-reaction-force-during-an-induced-acceleration-analysis-of-running-in-rear-foot-strikers
#20
Sekiya Koike, Seigo Nakaya, Hiroto Mori, Tatsuya Ishikawa, Alexander P Willmott
The objective of this study was to develop and evaluate a methodology for quantifying the contributions of modelling error terms, as well as individual joint torque, gravitational force and motion-dependent terms, to the generation of ground reaction force (GRF), whose true value can be measured with high accuracy using a force platform. Dynamic contributions to the GRF were derived from the combination of (1) the equations of motion for the individual segments, (2) the equations for constraint conditions arising from the connection of adjacent segments at joints, and (3) the equations for anatomical constraint axes at certain joints...
June 22, 2017: Journal of Sports Sciences
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