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https://www.readbyqxmd.com/read/29150909/genetic-analysis-of-osteogenesis-imperfecta-in-the-palestinian-population-molecular-screening-of-49-affected-families
#1
Osama Essawi, Sofie Symoens, Maha Fannana, Mohammad Darwish, Mohammad Farraj, Andy Willaert, Tamer Essawi, Bert Callewaert, Anne De Paepe, Fransiska Malfait, Paul J Coucke
BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing variants of 9 different known OI genes...
November 18, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29128769/erosion-induced-losses-of-carbon-nitrogen-phosphorus-and-heavy-metals-from-agricultural-soils-of-contrasting-organic-matter-management
#2
Pu Shi, Rainer Schulin
Water erosion on agricultural land preferentially carries away fine particles. Due to the generally high specific density of sorption sites of these particles, their displacement can be associated with substantial particle-bound transfer also of nutrients and pollutants with low solubility. Organic matter amendments can reduce soil erosion, but to what extent they affect the erosion-induced element losses has not been studied much. Here, we carried out field rainfall experiments on three pairs of soil plots (1...
November 9, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29127066/surface-modifications-and-oxidative-degradation-in-mpc-grafted-highly-cross-linked-polyethylene-liners-retrieved-from-short-term-total-hip-arthroplasty
#3
Shine Tone, Masahiro Hasegawa, Leonardo Puppulin, Giuseppe Pezzotti, Akihiro Sudo
Highly cross-linked polyethylene (HXLPE) hip liners grafted with 2-methacryloyloxyethyl phosphorylcholine (MPC) on their bearing surfaces have recently been commercialized as components of a new generation of artificial hip joints, while improvements in wear resistance and biocompatibility were reported based on in vitro studies. The present study aimed at evaluating the surface modification and oxidative degradation in short-term retrieved MPC-grafted liners by X-ray photoelectron spectroscopy (XPS), Fourier-transform infrared spectroscopy (FT-IR) with attenuated total reflection (ATR) equipment and Raman spectroscopy...
November 7, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/29124932/effects-of-environmental-stresses-and-in-vitro-digestion-on-the-release-of-tocotrienols-encapsulated-within-chitosan-alginate-microcapsules
#4
Phui Yee Tan, Tai Boon Tan, Hon Weng Chang, Beng Ti Tey, Eng-Seng Chan, Oi-Ming Lai, Badlishah Sham Baharin, Imededdine Nehdi, Chin Ping Tan
Considering the health benefits of tocotrienols, continuous works have been done on the encapsulation and delivery of these compounds. In this study, we encapsulated tocotrienols in chitosan-alginate microcapsules and evaluated their release profile. Generally, these tocotrienols microcapsules (TM) displayed high thermal stability. When subjected to pH adjustments (pH 1-9), we observed that the release of tocotrienols was the highest (33.78 ± 0.18%) under basic condition. The TM were also unstable against the effect of ionic strength, with a high release (70...
November 10, 2017: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29116806/millimeter-sized-holes-damming
#5
So Hung Huynh, Dwayne Chung Kim Chung, Murat Muradoglu, Oi-Wah Liew, Tuck Wah Ng
Valves used to control liquid filling and draining processes from storage typically need to be actuated. Here, we show that similar flow enabling and restricting operations can be achieved through millimeter scale holes that function according to the amount of hydrostatic pressure applied without any other intervention. This phenomena is exhibited using receptacles where the base is made of either a hydrophilic or superhydrophobic substrate with hole sizes ranging from 1.0 - 2.0 mm. The construction is such that the drainage flow velocities are of the same order in both substrates and follow Torricelli's law trends...
November 8, 2017: Langmuir: the ACS Journal of Surfaces and Colloids
https://www.readbyqxmd.com/read/29109886/radiofrequency-targeted-vertebral-augmentation-case-report-of-a-patient-with-7-osteoporotic-vertebral-fractures-in-a-variant-of-osteogenesis-imperfecta
#6
Leonard Westermann, Peer Eysel, Marvin Simons, Kourosh Zarghooni
Introduction: Radiofrequency-targeted vertebral augmentation (RF-TVA) is a recognized treatment for painful compression fractures. RF-TVA in a patient with multiple compression fractures due to type I osteogenesis imperfecta (OI) has not been previously reported. Case Presentation: A 54-year-old patient with type I OI is presented with a segmental thoracic hyperkyphosis and 7 recent vertebral compression fractures. Because of persistent severe thoracolumbar back pain despite conservative therapy, RF-TVA was indicated...
2017: Case Reports in Orthopedics
https://www.readbyqxmd.com/read/29108006/incidence-and-outcomes-of-acute-kidney-injury-in-extremely-low-birth-weight-infants
#7
Chien-Chung Lee, Oi-Wa Chan, Mei-Yin Lai, Kai-Hsiang Hsu, Tai-Wei Wu, Wai-Ho Lim, Yu-Cheng Wang, Reyin Lien
BACKGROUND: Acute kidney injury (AKI) is a common event in the neonatal intensive care unit (NICU), especially in extremely-low-birth-weight (ELBW) infants. This cohort study investigated the incidence of and risk factors for AKI in ELBW infants and their overall survival at the postmenstrual age (PMA) of 36 weeks. METHODS: All ELBW infants admitted to our NICU between January 2010 and December 2013 were enrolled. Those who died prior to 72 hours of life, had congenital renal abnormality, or had only one datum of the serum creatinine (SCr) level after the first 24 hours of life were excluded...
2017: PloS One
https://www.readbyqxmd.com/read/29107738/extracellular-vesicles-released-from-mesenchymal-stromal-cells-stimulate-bone-growth-in-osteogenesis-imperfecta
#8
Satoru Otsuru, Laura Desbourdes, Adam J Guess, Ted J Hofmann, Theresa Relation, Takashi Kaito, Massimo Dominici, Masahiro Iwamoto, Edwin M Horwitz
BACKGROUND: Systemic infusion of mesenchymal stromal cells (MSCs) has been shown to induce acute acceleration of growth velocity in children with osteogenesis imperfecta (OI) despite minimal engraftment of infused MSCs in bones. Using an animal model of OI we have previously shown that MSC infusion stimulates chondrocyte proliferation in the growth plate and that this enhanced proliferation is also observed with infusion of MSC conditioned medium in lieu of MSCs, suggesting that bone growth is due to trophic effects of MSCs...
October 26, 2017: Cytotherapy
https://www.readbyqxmd.com/read/29104038/extremely-low-level-of-serum-pigment-epithelium-derived-factor-is-a-special-biomarker-of-chinese-osteogenesis-imperfecta-patients-with-serpinf1-mutations
#9
Jian-Yi Wang, Lu-Jiao Li, Qian Zhang, Yi Liu, Fang Lv, Xiao-Jie Xu, Yu-Wen Song, Ou Wang, Yan Jiang, Wei-Bo Xia, Xiao-Ping Xing, Mei Li
BACKGROUNDS: SERPINF1 mutations caused deficiency of pigment epithelium-derived factor (PEDF) and would lead to osteogenesis imperfecta (OI) type VI. However, serum PEDF levels were unclear in Chinese OI patients who had clear molecular diagnosis. OBJECTIVE: To assess PEDF levels in different genotypes of OI, to evaluate the influencing factors of PEDF in Chinese OI patients with clear molecular diagnosis. METHODS: Known candidate genes of OI were examined by a targeted next generation sequence...
November 2, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29102185/relationship-between-lifespan-indicators-and-elemental-background-values-a-case-study-in-guangdong-province-china
#10
Haixia Pu, Kunli Luo, Shixi Zhang, Yajun Du, Chao Zhao
There was a significant difference in the distribution of centenarians at county-level in Guangdong Province, China. To carry out an integrated analysis on elemental background values and their relation to lifespan level, samples of environmental media such as drinking water, staple rice and soil were collected in ten counties (non-longevity and longevity areas) in Guangdong Province. Meanwhile, lifespan indicators were calculated based on census data in 2010: the percentage of population aged 80 to 90years (octogenarian index, 80-90%, OI%), the percentage of population aged 90 to 100years (longevity index, 90-100%, LI%), centenarians per one hundred thousand inhabitants (CH)...
October 25, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29101683/the-life-course-cohort-dynamics-and-international-differences-in-aging-trajectories
#11
Steven A Haas, Katsuya Oi, Zhangjun Zhou
In recent years, population health research has focused on understanding the determinants of later-life health. Two strands of that work have focused on (1) international comparisons of later-life health and (2) assessing the early-life origins of disease and disability and the importance of life course processes. However, the less frequently examined intersection of these approaches remains an important frontier. The present study contributes to the integration of these approaches. We use the Health and Retirement Study family of data sets and a cohort dynamic approach to compare functional health trajectories across 12 high-income countries and to examine the role of life course processes and cohort dynamics in contributing to variation in those trajectories...
November 3, 2017: Demography
https://www.readbyqxmd.com/read/29101475/insight-into-the-pathology-of-a-col1a1-signal-peptide-heterozygous-mutation-leading-to-severe-osteogenesis-imperfecta
#12
U Lindert, M Gnoli, M Maioli, M F Bedeschi, L Sangiorgi, M Rohrbach, C Giunta
Osteogenesis imperfecta or "brittle bone disease" is a congenital disorder of connective tissue causing the bone to break easily. Around 85-90% of cases are due to autosomal dominant mutations in the genes encoding type I collagen, the major organic component of bone. Genotype-phenotype correlations have shown that quantitative defects of collagen type I lead to mild OI, whereas structural defects show a wide clinical range from mild to perinatal lethal. This may partially be explained by the type of amino acid substitution and the relative location in the domain structure...
November 3, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/29098113/hyperbaric-oxygen-therapy-and-oxygen-compatibility-of-skin-and-wound-care-products
#13
Stéphanie F Bernatchez, Joseph Tucker, Gwenael Chiffoleau
Objective: Use test methods to assess the oxygen compatibility of various wound care products. Approach: There are currently no standard test methods specifically for evaluating the oxygen compatibility and safety of materials under hyperbaric oxygen (HBO) conditions. However, tests such as the oxygen index (OI), oxygen exposure (OE), and autogenous ignition temperature (AIT) can provide useful information. Results: The OI test measures the minimum oxygen concentration that will support candle-like burning, and it was used to test 44 materials...
November 1, 2017: Advances in Wound Care
https://www.readbyqxmd.com/read/29097286/the-impact-of-glycaemic-variability-on-wound-healing-in-the-diabetic-foot-a-retrospective-study-of-new-ulcers-presenting-to-a-specialist-multidisciplinary-foot-clinic
#14
Ketan K Dhatariya, Edwin Li Ping Wah-Pun Sin, Joyce Oi Suet Cheng, Francesca Yan Nok Li, Anson Wei Yue Yue, Catherine Gooday, Ian Nunney
AIMS: Glycaemic variability - the visit-to-visit variation in HbA1c - plays a possible role in the development of micro and macrovascular disease in patients with diabetes. Whether HbA1c variability is a factor determining wound healing in diabetic foot ulcers remains unknown. We aimed to determine whether HbA1c variability is associated with foot ulcer healing time. METHODS: A retrospective analysis of patients presenting to our specialist multidisciplinary foot clinic between July 2013 and March 2015, with at least three HbA1c measurements within five years of presentation and more than two follow-up reviews...
October 31, 2017: Diabetes Research and Clinical Practice
https://www.readbyqxmd.com/read/29093599/herschel-survey-and-modelling-of-externally-illuminated-photoevaporating-protoplanetary-disks
#15
J Champion, O Berné, S Vicente, I Kamp, F Le Petit, A Gusdorf, C Joblin, J R Goicoechea
Context: Protoplanetary disks undergo substantial mass-loss by photoevaporation, a mechanism which is crucial to their dynamical evolution. However, the processes regulating the gas energetics have not been well constrained by observations so far. Aims: We aim at studying the processes involved in disk photoevaporation when it is driven by far-UV photons (i.e. 6 < E < 13.6 eV). Methods: We present a unique Herschel survey and new ALMA observations of four externally-illuminated photoevaporating disks (a...
August 2017: Astronomy and Astrophysics
https://www.readbyqxmd.com/read/29089468/protective-effect-of-htk-solution-on-postoperative-pulmonary-function-in-infants-with-chd-and-pah
#16
Jindong Li, Yanhong Wu, Xudong Tian, Jiantang Wang, Mingfeng Dong, Anbiao Wang
Objective In this study, we aimed to investigate the effect of pulmonary arterial perfusion (PAP) with HTK on lung protection in infants with congenital heart disease (CHD) and pulmonary arterial hypertension (PAH) after cardiopulmonary bypass (CPB). Methods Fifty infant patients with CHD and PAH at our hospital from January 2016 to February 2017 were randomly divided into control group and HTK group. The level of IL-6, MDA and ET-1 in serum were detected using ELISA Kit. Oxygen index (OI) and respiratory index (RI) were calculated at each time point...
October 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/29083405/genetic-variation-and-gene-expression-across-multiple-tissues-and-developmental-stages-in-a-nonhuman-primate
#17
Anna J Jasinska, Ivette Zelaya, Susan K Service, Christine B Peterson, Rita M Cantor, Oi-Wa Choi, Joseph DeYoung, Eleazar Eskin, Lynn A Fairbanks, Scott Fears, Allison E Furterer, Yu S Huang, Vasily Ramensky, Christopher A Schmitt, Hannes Svardal, Matthew J Jorgensen, Jay R Kaplan, Diego Villar, Bronwen L Aken, Paul Flicek, Rishi Nag, Emily S Wong, John Blangero, Thomas D Dyer, Marina Bogomolov, Yoav Benjamini, George M Weinstock, Ken Dewar, Chiara Sabatti, Richard K Wilson, J David Jentsch, Wesley Warren, Giovanni Coppola, Roger P Woods, Nelson B Freimer
By analyzing multitissue gene expression and genome-wide genetic variation data in samples from a vervet monkey pedigree, we generated a transcriptome resource and produced the first catalog of expression quantitative trait loci (eQTLs) in a nonhuman primate model. This catalog contains more genome-wide significant eQTLs per sample than comparable human resources and identifies sex- and age-related expression patterns. Findings include a master regulatory locus that likely has a role in immune function and a locus regulating hippocampal long noncoding RNAs (lncRNAs), whose expression correlates with hippocampal volume...
October 30, 2017: Nature Genetics
https://www.readbyqxmd.com/read/29077160/effect-of-pulmonary-surfactant-combined-with-mechanical-ventilation-on-oxygenation-functions-and-expressions-of-serum-transforming-growth-factor-beta1-tgf-%C3%AE-1-and-bone-morphogenetic-protein-7-bmp-7-of-neonatal-respiratory-distress-syndrome
#18
L-P Wang, Q-H Mao, L Yang
OBJECTIVE: To investigate and discuss the effect of early treatment with pulmonary surfactant (PS) on oxygenation functions in neonates with acute respiratory distress syndrome (ARDS), to understand the expression trend of serum transforming growth factor-beta 1 (TGF-β1) and bone morphogenetic protein 7 (BMP-7) in children with neonatal respiratory distress syndrome (NRDS), and to provide help for early prevention and treatment of NRDS. PATIENTS AND METHODS: All the children were treated with mechanical ventilation; among them, 25 NRDS children who were given PS within 12 h after birth were selected as PS group, and 25 NRDS children who were never given PS were selected as conventional mechanical ventilation (CMV) group...
October 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29060875/pyramid-approach-for-the-reduction-of-parallax-related-artefacts-in-optical-recordings-of-moving-translucent-volumes
#19
Philipp Flotho, Alejandro Romero-Santiago, Karsten Schwerdtfeger, Matthias Hulser, Lars Haab, Daniel J Strauss
Functional optical imaging (OI) of intrinsic signals (like blood oxygenation coupled reflection changes) and of extrinsic properties of voltage sensitive probes (like voltage-sensitive dyes (VSD)) forms a group of invasive neuroimaging techniques, that possess up to date the highest temporal and spatial resolution on a meso- to macroscopic scale. There are different sources that contribute to the OI signal of which many are noise. In our previous works, we have used dense optical flow for the reduction of movement artefacts...
July 2017: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/29059277/intervention-with-brief-cessation-advice-plus-active-referral-for-proactively-recruited-community-smokers-a-pragmatic-cluster-randomized-clinical-trial
#20
Man Ping Wang, Yi Nam Suen, William Ho-Cheung Li, Christina Oi-Bun Lam, Socrates Yong-da Wu, Antonio Cho-Shing Kwong, Vienna W Lai, Sophia S Chan, Tai Hing Lam
Importance: Most smoking cessation (SC) clinics are costly, passive, and underused. Objective: To compare the SC effect of a combined intervention involving brief, model-guided SC advice plus active referral to SC services (active referral group) with those of brief, model-guided SC advice only (brief advice group) and general SC advice only (control group). Design, Setting, and Participants: A single-blind, 3-arm, pragmatic cluster randomized clinical trial was conducted including 1226 adult daily smokers in the general Hong Kong community proactively recruited to participate in the Quit-to-Win Contest held in 2015...
October 23, 2017: JAMA Internal Medicine
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