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https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#1
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28099038/an-exome-sequencing-study-to-assess-the-role-of-rare-genetic-variation-in-pulmonary-fibrosis
#2
Slavé Petrovski, Jamie L Todd, Michael T Durheim, Quanli Wang, Jason W Chien, Fran L Kelly, Courtney Frankel, Caroline M Mebane, Zhong Ren, Joshua Bridgers, Thomas J Urban, Colin D Malone, Ashley Finlen Copeland, Christie Brinkley, Andrew S Allen, Thomas O'Riordan, John G McHutchison, Scott M Palmer, David B Goldstein
RATIONALE: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. OBJECTIVES: The aim of this study was to use whole-exome sequencing to improve our understanding of the genetic architecture of pulmonary fibrosis. METHODS: We performed a case-control exome-wide collapsing analysis including 262 unrelated individuals with pulmonary fibrosis; clinically classified as IPF according to ATS/ERS/JRS/ALAT guidelines (81...
January 18, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28097937/an-assembly-type-master-slave-catheter-and-guidewire-driving-system-for-vascular-intervention
#3
Hyo-Jeong Cha, Byung-Ju Yi, Jong Yun Won
Current vascular intervention inevitably exposes a large amount of X-ray to both an operator and a patient during the procedure. The purpose of this study is to propose a new catheter driving system which assists the operator in aspects of less X-ray exposure and convenient user interface. For this, an assembly-type 4-degree-of-freedom master-slave system was designed and tested to verify the efficiency. First, current vascular intervention procedures are analyzed to develop a new robotic procedure that enables us to use conventional vascular intervention devices such as catheter and guidewire which are commercially available in the market...
January 2017: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/28095420/molecular-mechanism-of-disease-associated-mutations-in-the-pre-m1-helix-of-nmda-receptors-and-potential-rescue-pharmacology
#4
Kevin K Ogden, Wenjuan Chen, Sharon A Swanger, Miranda J McDaniel, Linlin Z Fan, Chun Hu, Anel Tankovic, Hirofumi Kusumoto, Gabrielle J Kosobucki, Anthony J Schulien, Zhuocheng Su, Joseph Pecha, Subhrajit Bhattacharya, Slavé Petrovski, Adam E Cohen, Elias Aizenman, Stephen F Traynelis, Hongjie Yuan
N-methyl-D-aspartate receptors (NMDARs), ligand-gated ionotropic glutamate receptors, play key roles in normal brain development and various neurological disorders. Here we use standing variation data from the human population to assess which protein domains within NMDAR GluN1, GluN2A and GluN2B subunits show the strongest signal for being depleted of missense variants. We find that this includes the GluN2 pre-M1 helix and linker between the agonist-binding domain (ABD) and first transmembrane domain (M1). We then evaluate the functional changes of multiple missense mutations in the NMDAR pre-M1 helix found in children with epilepsy and developmental delay...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28092590/adaptive-neural-synchronization-control-for-bilateral-teleoperation-systems-with-time-delay-and-backlash-like-hysteresis
#5
Huanqing Wang, Peter Xiaoping Liu, Shichao Liu
This paper considers the master and slave synchronization control for bilateral teleoperation systems with time delay and backlash-like hysteresis. Based on radial basis functions neural networks' approximation capabilities, two improved adaptive neural control approaches are developed. By Lyapunov stability analysis, the position and velocity tracking errors are guaranteed to converge to a small neighborhood of the origin. The contributions of this paper can be summarized as follows: 1) by using the matrix norm established using the weight vector of neural networks as the estimated parameters, two novel control schemes are developed and 2) the hysteresis inverse is not required in the proposed controllers...
January 10, 2017: IEEE Transactions on Cybernetics
https://www.readbyqxmd.com/read/28090746/development-of-an-in-vivo-visual-robot-system-with-a-magnetic-anchoring-mechanism-and-a-lens-cleaning-mechanism-for-laparoendoscopic-single-site-surgery-less
#6
Haibo Feng, Dinghui Dong, Tengfei Ma, Jinlei Zhuang, Yili Fu, Yi Lv, Liyi Li
BACKGROUND: Surgical robot systems which can significantly improve surgical procedures have been widely used in laparoendoscopic single-site surgery (LESS). For a relative complex surgical procedure, the development of an in vivo visual robot system for LESS can effectively improve the visualization for surgical robot systems. METHODS: In this work, an in vivo visual robot system with a new mechanism for LESS was investigated. A finite element method (FEM) analysis was carried out to ensure the safety of the in vivo visual robot during the movement, which was the most important concern for surgical purposes...
January 16, 2017: International Journal of Medical Robotics + Computer Assisted Surgery: MRCAS
https://www.readbyqxmd.com/read/28088590/human-papillomavirus-hpv-68-and-58-are-the-most-prevalent-genotypes-in-women-from-quilombos-communities-in-the-state-of-maranh%C3%A3-o-brazil
#7
José Eduardo Batista, Vera Aparecida Saddi, Keila Patrícia Almeida de Carvalho, Andréa Alves Ribeiro, Kelly Deyse Segati, Megmar Aparecida Dos S Carneiro, Silvio G Monteiro, Maria do Desterro S B Nascimento, Silvia Helena Rabelo-Santos
OBJECTIVES: to determine the frequency of human papillomavirus (HPV) types and behavioral characteristics related to cytological abnormalities in women descendants of slaves, who live in isolated communities known as Quilombos in the state of Maranhão, Brazil. METHODS: Cervicovaginal specimens of 353 women were analyzed by conventional cytology and genotyping. HPV detection and genotyping was performed using a Linear Array HPV genotyping test kit. Behavioral factors and their association with cytological abnormalities were analyzed as well as the association between cytological abnormalities and HPV infection...
January 11, 2017: International Journal of Infectious Diseases: IJID
https://www.readbyqxmd.com/read/28078658/the-past-does-matter-a-nursing-perspective-on-post-traumatic-slave-syndrome-ptss
#8
Ejim Sule, Ryan M Sutton, Debbie Jones, Ramel Moore, Imaculata Igbo, Lovell A Jones
Few have reviewed the impact of post traumatic slave syndrome (PTSS) on the issues of inequities, especially as it pertains to mental and physical health. Furthermore, the impact of PTSS on the social determinants of health is an area that has been researched by few investigators. The possibilities that the impact of slavery and/or major stress events in the life of a population can become trans-generational are lost to history. Think about what is taking place in cities around the country and then think about racist socialization (internalized racism) and its impact on our society...
January 11, 2017: Journal of Racial and Ethnic Health Disparities
https://www.readbyqxmd.com/read/28068694/feasibility-of-performing-esophageal-endoscopic-submucosal-dissection-using-master-and-slave-transluminal-endoscopic-robot
#9
Nobuyoshi Takeshita, Khek Yu Ho, Soo Jay Phee, Jennie Wong, Philip Wai Yan Chiu
No abstract text is available yet for this article.
February 2017: Endoscopy
https://www.readbyqxmd.com/read/28061364/de-novo-truncating-variants-in-asxl2-are-associated-with-a-unique-and-recognizable-clinical-phenotype
#10
Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm
No abstract text is available yet for this article.
January 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28058592/parallel-spectral-acquisition-with-orthogonal-icr-cells
#11
Sung-Gun Park, Gordon A Anderson, James E Bruce
FT-based high performance mass analyzers yield increased resolving power and mass measurement accuracy, yet require increased duration of signal acquisition that can limit many applications. The implementation of stronger magnetic fields, multiple detection electrodes for harmonic signal detection, and an array of multiple mass analyzers arranged along the magnetic field axis have been used to decrease required acquisition time. The results presented here show that multiple ion cyclotron resonance (ICR) mass analyzers can also be implemented orthogonal to the central magnetic field axis...
January 5, 2017: Journal of the American Society for Mass Spectrometry
https://www.readbyqxmd.com/read/28046391/su-d-brc-07-system-design-for-a-3d-volumetric-scintillation-detector-using-scmos-cameras
#12
C Darne, D Robertson, F Alsanea, S Beddar
PURPOSE: The purpose of this project is to build a volumetric scintillation detector for quantitative imaging of 3D dose distributions of proton beams accurately in near real-time. METHODS: The liquid scintillator (LS) detector consists of a transparent acrylic tank (20×20×20 cm(3) ) filled with a liquid scintillator that when irradiated with protons generates scintillation light. To track rapid spatial and dose variations in spot scanning proton beams we used three scientific-complementary metal-oxide semiconductor (sCMOS) imagers (2560×2160 pixels)...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28004075/regulation-of-reproduction-by-the-circadian-rhythms
#13
Wen-Xiang Zhang, Si-Yu Chen, Chang Liu
Mammals synchronize their circadian activity primarily to the cycles of light and darkness in the environment. Circadian rhythm is controlled by the central clock in the hypothalamic suprachiasmatic nucleus (SCN) and the peripheral clocks in various tissues. More importantly, the central clock can integrate photic/nonphotic signals to generate rhythmic outputs, and then drive the slave oscillators in peripheral tissues through neuroendocrine and behavioral signals. Human reproductive activities, as some other physiological functions, are controlled by the biological clocks...
December 25, 2016: Sheng Li Xue Bao: [Acta Physiologica Sinica]
https://www.readbyqxmd.com/read/27995820/household-food-insecurity-in-black-slaves-descendant-communities-in-brazil-has-the-legacy-of-slavery-truly-ended
#14
Muriel B Gubert, Anna Maria Segall-Corrêa, Ana Maria Spaniol, Jessica Pedroso, Stefanie Eugênia Dos Anjos Campos Coelho, Rafael Pérez-Escamilla
OBJECTIVE: To identify the factors associated with food insecurity among Quilombolas communities in Brazil. DESIGN: An analysis of secondary data assessed in the 2011 Quilombolas Census was performed. The Brazilian Food Insecurity Measurement Scale (Escala Brasileira de Insegurança Alimentar, EBIA) was used to assess household food security status. Sociodemographic conditions and access to social programmes and benefits were also evaluated. SETTING: National survey census from recognized Quilombolas Brazilian territories...
December 20, 2016: Public Health Nutrition
https://www.readbyqxmd.com/read/27992053/-antonio-de-saldanha-da-gama-s-proposals-to-improve-the-slave-trade-for-humanitarian-and-economic-reasons-rio-de-janeiro-1810
#15
Ana Carolina de Carvalho Viotti
In 1808, Dom João VI issued an edict which regulated the shipping and treatment of slaves on the transatlantic crossing from Africa. Two years later, Antonio de Saldanha da Gama, a member of the Treasury Council, drafted a letter discussing some points of the resolution. This key figure in the Portuguese administration of Brazil argued that his respectful considerations concerning the determinations of His Royal Highness were designed to improve them "for humanitarian and economic reasons." Safeguarded in the archives of Arquivo Histórico Ultramarino, this letter is transcribed, annotated, and contextualized here, supplying an interesting perspective on the prevailing concerns and justifications about the trafficking of African slaves to Brazil...
October 2016: História, Ciências, Saúde—Manguinhos
https://www.readbyqxmd.com/read/27973516/amplification-of-a-nanosecond-laser-pulse-chain-via-dynamic-injection-locking-of-a-laser-diode
#16
Jun He, Gang Jin, Bei Liu, Junmin Wang
We report a novel optical pulse generation method for high-speed wavelength switching of amplified nanosecond (ns) laser pulses resonant to atomic transitions. Under free-running conditions, a slave laser diode is blue-detuned with tens of GHz relative to the master laser. A nanosecond pulse chain generated by modulating the continuous-wave master laser with a fiber-pigtailed electro-optical intensity modulator is injected into the slave laser diode to fast switch the slave laser's wavelength back and forth...
December 15, 2016: Optics Letters
https://www.readbyqxmd.com/read/27940369/the-biological-standard-of-living-in-pre-modern-korea-determinants-of-height-of-militia-recruits-during-the-chos%C3%A5-n-dynasty
#17
Seong Ho Jun, James B Lewis, Daniel Schwekendiek
This paper extends the research on the biological standard of living in the Korean peninsula back to pre-modern times. Drawing on militia rosters of the Chosŏn Dynasty from the sixteenth to eighteenth centuries, we tentatively conclude that the final height of Korean men during this period was 166cm and thus slightly above that of modern North Korean men (165cm). On the other hand, the average height of modern South Korean men is 172cm, 6cm more than what we tentatively estimate for pre-modern Korean men. Regression analysis of the height of pre-modern Korean men finds that un-free Koreans ("slaves") were significantly shorter by about 0...
December 2, 2016: Economics and Human Biology
https://www.readbyqxmd.com/read/27940215/htlv-1aa-introduction-into-brazil-and-its-association-with-the-trans-atlantic-slave-trade
#18
Adjile Edjide Roukiyath Amoussa, Eduan Wilkinson, Marta Giovanetti, Filipe Ferreira de Almeida Rego, Thessika Hialla A Araujo, Marilda de Souza Gonçalves, Tulio de Oliveira, Luiz Carlos Junior Alcantara
INTRODUCTION: Human T-lymphotropic virus (HTLV) is an endemic virus in some parts of the world, with Africa being home to most of the viral genetic diversity. In Brazil, HTLV-1 is endemic amongst Japanese and African immigrant populations. Multiple introductions of the virus in Brazil from other epidemic foci were hypothesized. The long terminal repeat (LTR) region of HTLV-1 was used to infer the origin of the virus in Brazil, using phylogenetic analysis. METHODS: LTR sequences were obtained from the HTLV-1 database (http://htlv1db...
December 8, 2016: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/27928980/inside-doctor-livingstone-a-scottish-icon-s-encounter-with-tropical-disease
#19
Michael P Barrett, Federica Giordani
Dr David Livingstone died on May 1st 1873. He was 60 years old and had spent much of the previous 30 years walking across large stretches of Southern Africa, exploring the terrain he hoped could provide new environments in which Europeans and Africans could cohabit on equal terms and bring prosperity to a part of the world he saw ravaged by the slave trade. Just days before he died, he wrote in his journal about the permanent stream of blood that he was emitting related to haemorrhoids and the acute intestinal pain that had left him incapable of walking...
December 8, 2016: Parasitology
https://www.readbyqxmd.com/read/27925132/-modern-day-slavery-as-a-public-health-issue
#20
Luís Henrique da Costa Leão
Modern-day slave labor is one of the most pernicious and persistent social problems in Brazil. In the light of the need to implement a national occupational health policy, this paper discusses slave labor as a public health concern, highlighting possibilities for broadening strategies for vigilance and comprehensive care for this specific working population. Exploratory qualitative research was carried out based on the "social construction of reality" proposed by Lenoir, Berger and Luckmann. The investigation consisted of a theoretical review of modern-day slave labor on the national and international scene within the scope of the human, social and public health sciences and an analysis of social and political practices to tackle modern-day slave labor was conducted in the State of Rio de Janeiro...
December 2016: Ciência & Saúde Coletiva
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