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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/28641383/neuroprotection-in-stroke-the-importance-of-collaboration-and-reproducibility
#2
Ain A Neuhaus, Yvonne Couch, Gina Hadley, Alastair M Buchan
Acute ischaemic stroke accounts for 6.5 million deaths per year, and by 2030 will result in the annual loss of over 200 million disability-adjusted life years globally. There have been considerable recent advances in the gold standard of acute ischaemic stroke treatment, some aspects of which-aspirin to prevent recurrence, and treating patients in specialized stroke wards-are widely applicable. Recanalization of the occluded artery through thrombolysis and/or endovascular thrombectomy is restricted to only a small proportion of patients, due to contra-indications and the costs associated with establishing the infrastructure to deliver these treatments...
June 20, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28641377/paternal-care-in-biparental-rodents-intra-and-inter-individual-variation
#3
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/28641312/impact-of-novel-mir-145-3p-regulatory-networks-on-survival-in-patients-with-castration-resistant-prostate-cancer
#4
Yusuke Goto, Akira Kurozumi, Takayuki Arai, Nijiro Nohata, Satoko Kojima, Atsushi Okato, Mayuko Kato, Kazuto Yamazaki, Yasuo Ishida, Yukio Naya, Tomohiko Ichikawa, Naohiko Seki
BACKGROUND: Despite recent advancements, metastatic castration-resistant prostate cancer (CRPC) is not considered curative. Novel approaches for identification of therapeutic targets of CRPC are needed. METHODS: Next-generation sequencing revealed 945-1248 miRNAs from each lethal mCRPC sample. We constructed miRNA expression signatures of CRPC by comparing the expression of miRNAs between CRPC and normal prostate tissue or hormone-sensitive prostate cancer (HSPC)...
June 22, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28641304/hyperemesis-gravidarum-a-review-of-recent-literature
#5
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/28641262/scalable-multi-view-semi-supervised-classification-via-adaptive-regression
#6
Hong Tao, Chenping Hou, Feiping Nie, Jubo Zhu, Dongyun Yi
With the advent of multi-view data, multi-view learning has become an important research direction in machine learning and image processing. Considering the difficulty of obtaining labeled data in many machine learning applications, we focus on the multi-view semi-supervised classification problem. In this paper, we propose an algorithm named Multi-View Semi-Supervised Classification via Adaptive Regression (MVAR) to address this problem. Specifically, regression based loss functions with ℓ2,1 matrix norm are adopted for each view and the final objective function is formulated as the linear weighted combination of all the loss functions...
June 19, 2017: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
https://www.readbyqxmd.com/read/28641221/a-curse-of-knowledge-in-the-absence-of-knowledge-people-misattribute-fluency-when-judging-how-common-knowledge-is-among-their-peers
#7
Susan A J Birch, Patricia E Brosseau-Liard, Taeh Haddock, Siba E Ghrear
Knowledge can be a curse: Once we have acquired a particular item of knowledge it tends to bias, or contaminate, our ability to reason about a less informed perspective (referred to as the 'curse of knowledge' or 'hindsight bias'). The mechanisms underlying the curse of knowledge bias are a matter of great import and debate. We highlight two mechanisms that have been proposed to underlie this bias-inhibition and fluency misattribution. Explanations that involve inhibition argue that people have difficulty fully inhibiting or suppressing the content of their knowledge when trying to reason about a less informed perspective...
June 19, 2017: Cognition
https://www.readbyqxmd.com/read/28641214/motor-system-dysfunction-in-the-schizophrenia-diathesis-neural-systems-to-neurotransmitters
#8
R Abboud, C Noronha, V A Diwadkar
Motor control is a ubiquitous aspect of human function, and from its earliest origins, abnormal motor control has been proposed as being central to schizophrenia. The neurobiological architecture of the motor system is well understood in primates and involves cortical and sub-cortical components including the primary motor cortex, supplementary motor area, dorsal anterior cingulate cortex, the prefrontal cortex, the basal ganglia, and cerebellum. Notably all of these regions are associated in some manner to the pathophysiology of schizophrenia...
April 25, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/28641206/efficacy-of-surgical-laser-therapy-in-the-management-of-oral-pigmented-lesions-a-systematic-review
#9
Tariq Abduljabbar, Fahim Vohra, Zohaib Akram, Siti Mariam Ab Ghani, Nawwaf Al-Hamoudi, Fawad Javed
BACKGROUND: Oral pigmentation, especially in the gingiva poses esthetic problems. Laser therapy has been widely used for cosmetic therapy in dentistry. The aim of the present study was to systematically review the efficacy of surgical laser therapy (SLT) in the management of oral pigmented lesions (OPL). MATERIALS AND METHODS: The addressed focused question was "Is SLT effective in the management of OPL?" Databases (MEDLINE via PubMed; EMBASE; Cochrane Central Register of Controlled Trials and Cochrane Oral Health Group Trials Register databases) were searched from 1970 up to and including February 2017...
June 15, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28641205/muscilage-characterization-biochemical-and-enzymatic-activities-of-laser-irradiated-lagenaria-siceraria-seedlings
#10
Mazhar Abbas, Muhammad Arshad, Numrah Nisar, Jan Nisar, Abdul Ghaffar, Arif Nazir, M Asif Tahir, Munawar Iqbal
Laser stimulation effect on L. siceraria seed mucilage, biochemicals and enzymatic activities during early growth stages were investigated. The laser density power of 1mW/cm(2) for 3 and 5min treatments were performed and various responses i.e., seedlings mucilage, biochemical and enzymatic activities were studied. Laser treatment of L. siceraria seeds enhanced the biochemical as well as the enzymatic activities. TPC (total phenolic contents),TFC (total flavonoids contents), TSS (total soluble sugar), reducing sugar, proline contents, total soluble protein and nitrogen contents were recorded higher in laser treated groups versus control...
June 10, 2017: Journal of Photochemistry and Photobiology. B, Biology
https://www.readbyqxmd.com/read/28641194/use-of-a-long-distally-fixed-intramedullary-stem-to-treat-a-periprosthetic-femoral-fracture-following-total-hip-arthroplasty-using-a-thrust-plate-hip-prosthesis-a-case-report
#11
Hiroyuki Hatanaka, Goro Motomura, Satoshi Ikemura, Kazuhiko Sonoda, Yusuke Kubo, Takeshi Utsunomiya, Takuaki Yamamoto, Yasuharu Nakashima
INTRODUCTION: The thrust plate hip prosthesis (TPP; Zimmer, Winterthur, Switzerland) is a hip prosthesis that is no longer in production. Few reports have focused on periprosthetic fractures following total hip arthroplasty (THA) with the use of a TPP. PRESENTATION OF CASE: We report a 57-year-old woman with a periprosthetic femoral fracture 13 years after THA with the use of a TPP. A plain radiograph showed a displaced subtrochanteric fracture of the right femur just below the distal tip of the lateral plate without implant loosening...
June 13, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28641175/atmospheric-dust-deposition-on-soils-around-an-abandoned-fluorite-mine-hammam-zriba-ne-tunisia
#12
Chaima Djebbi, Fredj Chaabani, Oriol Font, Ignasi Queralt, Xavier Querol
The present study focuses on the eolian dispersion and dust deposition, of major and trace elements in soils in a semi-arid climate, around an old fluorite (CaF2) and barite (BaSO4) mine, located in Hammam Zriba in Northern Tunisia. Ore deposits from this site contain a high amount of metal sulphides constituting heavy metal pollution in the surrounding environment. Samples of waste from the surface of mine tailings and agricultural topsoil samples in the vicinity of the mine were collected. The soil samples and a control sample from unpolluted area, were taken in the direction of prevailing northwest and west winds...
June 19, 2017: Environmental Research
https://www.readbyqxmd.com/read/28641166/care-coordination-at-a-pediatric-accountable-care-organization-aco-a-qualitative-analysis
#13
Baria Hafeez, Sophia Miller, Anup D Patel, Zachary M Grinspan
OBJECTIVE: Care coordinators may help manage care for children with chronic illness. Their role in pediatric epilepsy care is understudied. We aimed to qualitatively describe the content of a care coordination intervention for children with epilepsy. METHODS: We conducted nine semi-structured interviews and one focus group with care coordinators at a pediatric accountable care organization (ACO) in Ohio. The care coordinators used a modified version of a published care coordination checklist for children with epilepsy (Patel AD, 2014)...
June 19, 2017: Epilepsy & Behavior: E&B
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/28641123/the-practice-environment-scale-of-the-nursing-work-index-an-updated-review-and-recommendations-for-use
#15
REVIEW
Pauline A Swiger, Patricia A Patrician, Rebecca S Susie Miltner, Dheeraj Raju, Sara Breckenridge-Sproat, Lori A Loan
OBJECTIVES: The Practice Environment Scale of the Nursing Work Index (PES-NWI) is an instrument, which measures the nursing practice environment - defined as factors that enhance or attenuate a nurse's ability to practice nursing skillfully and deliver high quality care. The purpose of this paper is to provide an updated review of the Practice Environment Scale of the Nursing Work Index's use to date and provide recommendations that may be helpful to nursing leaders and researchers who plan to use this instrument...
June 12, 2017: International Journal of Nursing Studies
https://www.readbyqxmd.com/read/28641122/working-with-parents-to-treat-anxiety-disordered-children-a-proof-of-concept-rct-evaluating-fear-less-triple-p
#16
Vanessa E Cobham, Ania Filus, Matthew R Sanders
Little is known about the efficacy of parent-only interventions and the maintenance of gains over time with anxiety-disordered children and adolescents. The current study aimed to evaluate the efficacy of a 6-session parent-focused intervention (Fear-less Triple P) in reducing children's anxiety symptomatology. The parents of 61 anxiety-disordered children (7-14 years) were randomly assigned to either the 6-session parent-only group CBT intervention or a wait-list control (WL) group. Diagnostic and questionnaire measures were administered at post-treatment; as well as 3-, 6- and 12 months following the completion of treatment...
June 15, 2017: Behaviour Research and Therapy
https://www.readbyqxmd.com/read/28641118/mechanisms-for-fast-cell-migration-in-complex-environments
#17
REVIEW
Pablo Vargas, Lucie Barbier, Pablo José Sáez, Matthieu Piel
Cell migration depends on a combination of the cell's intrinsic capacity to move and the proper interpretation of external cues. This multistep process enables leukocytes to travel long distances in organs in just a few hours. This fast migration is partly due to the leukocytes' high level of plasticity, which helps them to adapt to a changing environment. Here, we review recent progress in understanding the mechanisms used by leukocytes to move rapidly and efficiently in intricate anatomical landscapes. We shall focus on specific cytoskeletal rearrangements used by neutrophils and dendritic cells to migrate within confined environments...
June 19, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28641107/the-persistence-and-transience-of-memory
#18
REVIEW
Blake A Richards, Paul W Frankland
The predominant focus in the neurobiological study of memory has been on remembering (persistence). However, recent studies have considered the neurobiology of forgetting (transience). Here we draw parallels between neurobiological and computational mechanisms underlying transience. We propose that it is the interaction between persistence and transience that allows for intelligent decision-making in dynamic, noisy environments. Specifically, we argue that transience (1) enhances flexibility, by reducing the influence of outdated information on memory-guided decision-making, and (2) prevents overfitting to specific past events, thereby promoting generalization...
June 21, 2017: Neuron
https://www.readbyqxmd.com/read/28641098/trends-in-hematopoietic-stem-cell-transplant-activity-in-lebanon
#19
REVIEW
Ali Bazarbachi, Ammar Zahreddine, Radwan Massoud, Jean Cheikh, Colette Hanna, Fadi Nasr, Miguel Abboud, Ahmad Ibrahim
Hematopoietic stem cell transplantation (HSCT) has been accessible to the population residing in Lebanon and surrounding countries since 1997. HSCT programs were developed in two major hospitals in Beirut: American University of Beirut Medical Center (AUBMC) and Makassed General Hospital. Mount Lebanon Hospital initiated an autologous HSCT activity later. Between 2012 and 2016, the HSCT activity in Lebanon reached a total of 897 transplants, among which 303 (33.8%) were allogeneic HSCT and 594 (66.2%) were autologous HSCT...
June 13, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/28641065/motivations-and-contents-of-parent-child-value-transmission
#20
Daniela Barni, Silvia Donato, Rosa Rosnati, Francesca Danioni
This study focused on parents' motivations to transmit values to their adolescent children. According to Self-Determination Theory, controlled motivations (i.e., external and introjected)-which refer to doing something because it leads to approval or rewards-and autonomous motivations (i.e., identified and integrated)-which refer to doing something because it is perceived as inherently worthy-were examined. 325 Italian parental couples, with one child aged between 14 and 18 years, filled out a self-report questionnaire...
July 2017: Journal of Prevention & Intervention in the Community
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