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https://www.readbyqxmd.com/read/29669177/mutations-that-alter-the-carboxy-terminal-propeptide-cleavage-site-of-the-chains-of-type-i-procollagen-are-associated-with-a-unique-osteogenesis-imperfecta-phenotype
#1
Tim Cundy, Michael Dray, John Delahunt, Jannie Dahl Hald, Bente Langdahl, Chumei Li, Marta Szybowska, Shehla Mohammed, Emma L Duncan, Aideen M McInerney-Leo, Patricia G Wheeler, Paul Roschger, Klaus Klaushofer, Jyoti Rai, MaryAnn Weis, David Eyre, Ulrike Schwarze, Peter H Byers
Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains of type I collagen. A number of recent reports have suggested that mutations affecting the carboxyl-terminal propeptide cleavage site in the products of either COL1A1 or COL1A2 give rise to a form of OI characterized by unusually dense bones. We have assembled clinical, biochemical, and molecular data from 29 individuals from 8 families with 7 different mutations affecting the C-propeptide cleavage site...
April 18, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29668620/olfactory-assessment-in-the-chinese-pediatric-population
#2
Guowei Chen, Hongguang Pan, Lan Li, Jumei Wang, Delun Zhang, Zebin Wu
Young children with olfactory disturbance are sometimes encountered in ENT clinics. We investigated the clinical applicability of olfactory testing to the pediatric population in China.One hundred and ninety-three healthy children aged 6 to 17 years were enrolled. All participants were asked for demographic information (age, sex, body mass index [BMI], and rating of olfactory function) in a structured questionnaire and underwent olfactory testing including T&T Olfactometer (T&T), odor discrimination (OD), and odor identification (OI) tests of Sniffin' Sticks...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29665967/structural-and-functional-changes-in-the-heart-of-adult-patients-with-osteogenesis-imperfecta-case-control-study
#3
Verónica Hernández Jiménez, Jesús Saavedra Falero, María Teresa Alberca Vela, Rebeca Mata Caballero, José Antonio Rosado Sierra, Isabel Pavón de Paz
INTRODUCTION AND OBJECTIVES: Osteogenesis imperfecta (OI) is a connective tissue disease characterised by an anomalous synthesis of type i collagen. Little is known about the cardiovascular affectation suffered by these patients. The most frequently described are valvular dysfunction and dilatation of the aorta. We wanted to analyse the structural and functional changes of the heart in adult patients with OI. METHODS: We prospectively studied 82 patients with OI and compared them with 60 healthy subjects matched for age and sex...
April 14, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29665086/severely-impaired-bone-material-quality-in-chihuahua-zebrafish-resembles-classical-dominant-human-osteogenesis-imperfecta
#4
Imke A K Fiedler, Felix N Schmidt, Eva M Wölfel, Christine Plumeyer, Petar Milovanovic, Roberta Gioia, Francesca Tonelli, Hrishikesh A Bale, Katharina Jähn, Roberta Besio, Antonella Forlino, Björn Busse
Excessive skeletal deformations and brittle fractures in the vast majority of patients suffering from osteogenesis imperfecta (OI) are a result of substantially reduced bone quality. Since the mechanical competence of bone is dependent on the tissue characteristics at small length scales, it is of crucial importance to assess how osteogenesis imperfecta manifests at the micro- and nanoscale of bone. In this context, the Chihuahua (Chi/ +) zebrafish, carrying a heterozygous glycine substitution in the α1 chain of collagen type I, has recently been proposed as suitable animal model of classical dominant OI, showing skeletal deformities, altered mineralization patterns and a smaller body size...
April 17, 2018: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/29662960/impact-of-oral-hygiene-discontinuation-on-supragingival-and-salivary-microbiomes
#5
D Belstrøm, M L Sembler-Møller, M A Grande, N Kirkby, S L Cotton, B J Paster, S Twetman, P Holmstrup
The purpose of the present study was to characterize and compare supragingival and salivary microbiotas during a 10-d period of oral hygiene discontinuation. We tested the hypothesis that the composition of the salivary microbiota will reflect local microbial changes associated with accumulated biofilm formation and maturation. Pooled supragingival plaque ( n = 145) and stimulated saliva ( n = 145) samples were collected and plaque and gingival indices were recorded from 29 orally healthy individuals at baseline, during oral hygiene discontinuation (days 4, 7, and 10), and 14 d after resumption of oral hygiene...
January 2018: JDR Clinical and Translational Research
https://www.readbyqxmd.com/read/29662455/fitness-level-and-not-aging-per-se-determines-the-oxygen-uptake-kinetics-response
#6
Mitchell A George, Kaitlin M McLay, Patricia K Doyle-Baker, Raylene A Reimer, Juan M Murias
Although aging has been associated to slower [Formula: see text]O2 kinetics, some evidence indicates that fitness status and not aging per se might modulate this response. The main goal of this study was to examine the [Formula: see text]O2 , deoxygenated hemoglobin+myoglobin (deoxy-[Hb+Mb]) kinetics, and the NIRS-derived vascular reperfusion responses in older compared to young men of different training levels (i.e., inactive, recreationally active, and endurance trained). Ten young inactive [YI; 26 ± 5 yrs...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29661167/creating-an-optimality-index-netherlands-a-validation-study
#7
Suzanne M Thompson, Marianne J Nieuwenhuijze, Luc Budé, Raymond de Vries, Lisa Kane Low
BACKGROUND: At present, the maternity care system in the Netherlands is being reorganized into an integrated model of care, shifting the focus of midwives to include increasing numbers of births in hospital settings and clients with medium risk profiles. In light of these changes, it is useful for midwives to have a tool which may help them in reflecting upon care practices that promote physiological childbirth practices. The Optimality Index-US is an evidence based tool, designed to measure optimal perinatal care processes and outcomes...
April 16, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29657244/infiltration-characteristics-and-influencing-factors-of-retroperitoneal-liposarcoma-novel-evidence-for-extended-surgery-and-a-tumor-grading-system
#8
Zhen Wang, Jianhui Wu, Ang Lv, Chengpeng Li, Zhongwu Li, Min Zhao, Chunyi Hao
This study sought to evaluate the infiltration tendency of retroperitoneal liposarcoma (RPLS) from a new pathological angle by exploring the infiltration characteristics, which could provide helpful information to facilitate surgical decision-making and prognosis prediction. Concurrently, we aim to identify significant indicators of infiltration. A total of 61 consecutive patients with RPLS at our institution were retrospectively analyzed. All patients received extended surgery. The tumor infiltration characteristics and influencing factors were studied based on the pathological diagnosis...
April 15, 2018: Bioscience Trends
https://www.readbyqxmd.com/read/29651820/seroprevalence-of-opsonophagocytic-antibodies-against-serotype-ia-ib-ii-iii-and-v-group-b-streptococcus-among-korean-population
#9
Ji Hyen Lee, Han Wool Kim, Kyung Hyo Kim
BACKGROUND: Invasive Streptococcus agalactiae (group B streptococcus, GBS) infection most commonly occurs in infants; however, cases of GBS infection in adults, particularly in the elderly with significant underlying diseases, are being increasingly reported. We analyzed the serotype specific opsonophagocytic antibodies (the major mechanism of protection against GBS) in infants, adults, and the elderly. METHODS: The opsonization indices (OIs) of antibodies against serotype Ia, Ib, II, III, and V GBS were studied in 89 infants, 35 adults (age, 30-50 years), and 62 elderly individuals (age, 65-85 years) according to the University of Alabama at Birmingham GBS opsonophagocytic killing assay protocol (www...
April 16, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29644031/the-use-of-magnetically-controlled-growing-rods-in-paediatric-osteogenesis-imperfecta-with-early-onset-progressive-scoliosis
#10
A Gardner, J Sahota, H Dong, V Saraff, W Högler, N J Shaw
Osteogenesis Imperfecta (OI) is a condition of bone fragility and can present with early onset scoliosis that can cause respiratory complications in later life. The fear of instrumenting the spine in OI is the possibility of fracture either on primary insertion or subsequent lengthening. Magnetically controlled growing rods were inserted to control a scoliosis in a 6-year old with OI type IV. Fixation was obtained using pedicle screws proximally and distally with sublaminar bands around the ribs proximally...
March 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29629586/patients-with-unilateral-transfemoral-amputation-treated-with-a-percutaneous-osseointegrated-prosthesis
#11
E Hansson, K Hagberg, M Cawson, T H Brodtkorb
Aims The aim of this study was to compare the cost-effectiveness of treatment with an osseointegrated percutaneous (OI-) prosthesis and a socket-suspended (S-) prosthesis for patients with a transfemoral amputation. Patients and Methods A Markov model was developed to estimate the medical costs and changes in quality-adjusted life-years (QALYs) attributable to treatment of unilateral transfemoral amputation over a projected period of 20 years from a healthcare perspective. Data were collected alongside a prospective clinical study of 51 patients followed for two years...
April 1, 2018: Bone & Joint Journal
https://www.readbyqxmd.com/read/29625301/phthalates-contamination-in-china-status-trends-and-human-exposure-with-an-emphasis-on-oral-intake
#12
REVIEW
Wei Wang, Anna Oi Wah Leung, Lam Hang Chu, Ming Hung Wong
Despite the extensive production and use of phthalates in Asian countries, especially China, limited information is available about the current situation of human exposure in this region, and thus identification of further research needs is warranted. This review summarized the current trends of phthalates related to industrial production and human exposure by conducting a comprehensive assessment of phthalates contaminations in air, indoor dust, personal care products (PCPs), foodstuff and internal exposure in China, with comparisons with other countries...
April 3, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29619932/mortality-and-morbidity-in-patients-with-osteogenesis-imperfecta-in-denmark
#13
Lars Folkestad
Ostegenesis imperfecta (OI) is a hereditary disease of the connective tissue caused by mutations to, mainly, the genes that are involved in the biosynthesis of collagen type 1. Patients are grouped according to clinical severity and mode of inheritance according to Sillence's classification (originally 1979, updated 2014). According to our data, the population prevalence of OI in Denmark was 10.3 per 100,000, with 575 patients registered with an OI diagnosis in the National Patient Register and alive at the end of 2012 out of a total population of 5,602,628 persons...
April 2018: Danish Medical Journal
https://www.readbyqxmd.com/read/29618475/novel-measure-of-local-impedance-predicts-catheter-tissue-contact-and-lesion-formation
#14
Matthew S Sulkin, Jacob I Laughner, Sebastian Hilbert, Suraj Kapa, Jedrzej Kosiuk, Paul Younan, Iñaki Romero, Allan Shuros, Jason J Hamann, Gerhard Hindricks, Andreas Bollmann
BACKGROUND: Coupling between the ablation catheter and myocardium is critical to resistively heat tissue with radiofrequency ablation. The objective of this study was to evaluate whether a novel local impedance (LI) measurement on an ablation catheter identifies catheter-tissue coupling and is predictive of lesion formation. METHODS AND RESULTS: LI was studied in explanted hearts (n=10 swine) and in vivo (n=10; 50-70 kg swine) using an investigational electroanatomic mapping system that measures impedance from an ablation catheter with mini-electrodes incorporated in the distal electrode (Rhythmia and IntellaNav MiFi OI, Boston Scientific)...
April 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29611348/high-frequency-oscillatory-ventilation-in-a-cohort-of-children-with-respiratory-failure
#15
Claire A Stewart, Nadir Yehya, Lin Fei, Ranjit S Chima
OBJECTIVES: Our objective was to determine survival and variables associated with poor outcomes for patients requiring high frequency oscillatory ventilator (HFOV) support. We tested the ability of markers of oxygenation to predict outcome, specifically, the oxygenation index (OI), both prior to and after initiation of HFOV. We also aimed to examine the effect of immunocompromised condition (IC), and specifically stem cell transplant (SCT), on outcome. DESIGN: A retrospective, observational study was performed at two pediatric intensive care units (ICU) and included patients treated with HFOV over a 5 year time period...
April 2, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29609074/combination-of-intravenous-immunoglobulin-and-steroid-pulse-therapy-improves-outcomes-of-febrile-refractory-status-epilepticus
#16
Jainn-Jim Lin, Yu Wang, Shih-Yun Lan, Oi-Wa Chan, Shao-Hsuan Hsia, Min-Liang Chou, Po-Cheng Hung, Meng-Ying Hsieh, I-Jun Chou, Huei-Shyong Wang, Kuang-Lin Lin
BACKGROUND: Febrile infections are an important cause of paediatric refractory status epilepticus, and immune-mediated mechanisms and inflammatory processes have been associated with neurological manifestations in such patients. The aim of this study was to investigate the effects of immunotherapy as adjuvant treatment for febrile refractory status epilepticus. METHODS: We retrospectively reviewed cases of febrile refractory status epilepticus in a paediatric intensive care unit between January 2000 and December 2013 and analysed their clinical characteristics...
March 26, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29605223/olfactory-function-and-neurocognitive-outcomes-in-old-age-the-atherosclerosis-risk-in-communities-neurocognitive-study
#17
Priya Palta, Honglei Chen, Jennifer A Deal, A Richey Sharrett, Alden Gross, David Knopman, Michael Griswold, Gerardo Heiss, Thomas H Mosley
INTRODUCTION: We tested the hypothesis that poor sense of smell is associated with lower cognitive function and higher mild cognitive impairment (MCI) prevalence. METHODS: Olfaction, measured by the Sniffin' Sticks test, was categorized as olfactory impairment (OI) (score ≤6) or no OI (score >6). MCI was adjudicated based on review of a neuropsychological examination. Linear regression estimated the mean difference in cognitive factor scores, and log-binomial regression quantified MCI prevalence among participants with versus without OI...
March 29, 2018: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/29588088/the-etiologic-relation-between-disequilibrium-and-orthostatic-intolerance-in-patients-with-myalgic-encephalomyelitis-chronic-fatigue-syndrome
#18
Kunihisa Miwa, Yukichi Inoue
BACKGROUND: Orthostatic intolerance (OI) causes a marked reduction in the activities of daily living in patients with myalgic encephalomyelitis (ME) or chronic fatigue syndrome. Most symptoms of OI are thought to be related to cerebral hypo-perfusion and sympathetic activation. Because postural stability is an essential element of orthostatic tolerance, disequilibrium may be involved in the etiology of OI. METHODS AND RESULTS: The study comprised 44 patients with ME (men, 11 and women, 33; mean age, 37±9 years), who underwent neurological examinations and 10-min standing and sitting tests...
March 24, 2018: Journal of Cardiology
https://www.readbyqxmd.com/read/29576597/anticoagulation-therapy-for-venous-thromboembolism-in-the-real-world-from-the-command-vte-registry
#19
Yugo Yamashita, Takeshi Morimoto, Hidewo Amano, Toru Takase, Seiichi Hiramori, Kitae Kim, Takashi Konishi, Masaharu Akao, Yohei Kobayashi, Takeshi Inoue, Maki Oi, Toshiaki Izumi, Kotaro Takahashi, Tomohisa Tada, Po-Min Chen, Koichiro Murata, Yoshiaki Tsuyuki, Hiroshi Sakai, Syunsuke Saga, Tomoki Sasa, Jiro Sakamoto, Chinatsu Yamada, Minako Kinoshita, Kiyonori Togi, Tomoyuki Ikeda, Katsuhisa Ishii, Kazuhisa Kaneda, Hiroshi Mabuchi, Hideo Otani, Kensuke Takabayashi, Mamoru Takahashi, Hiroki Shiomi, Takeru Makiyama, Koh Ono, Takeshi Kimura
BACKGROUND: Venous thromboembolism (VTE) has a long-term risk of recurrence, which can be prevented by anticoagulation therapy.Methods and Results:The COMMAND VTE Registry is a multicenter registry enrolling 3,027 consecutive patients with acute symptomatic VTE between January 2010 and August 2014. The entire cohort was divided into the transient risk (n=855, 28%), unprovoked (n=1,477, 49%), and cancer groups (n=695, 23%). The rate of anticoagulation discontinuation was highest in the cancer group (transient risk: 37...
March 23, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29575427/-a-magnetic-chameleon-biocompatible-lanthanide-nanoparticles-with-magnetic-field-dependent-properties-as-contrast-agents-for-mri-and-optical-imaging-in-biological-window
#20
Tatjana N Parac-Vogt, Silvanose Biju, Juan Gallo, Manuel Bañobre-López, Bella Manshian, Stefaan Soenen, Uwe Himmelreich, Luce Vander Elst
A novel type of multimodal, magnetic resonance imaging/optical imaging (MRI/OI) contrast agent was developed based on core-shell lanthanide fluoride nanoparticles composed of a -NaHoF4 core plus a -NaGdF4:Yb3+, Tm3+ shell with an average size of 24 nm. The biocompatibility of the particles was ensured by a surface modification with poly acrylic acid (PAA) and further functionalization with an affinity ligand folic acid (FA). When excited using 980 nm NIR radiation, the CA shows intense emission at 802 nm with lifetime of 791 ± 3 μs due to the transition 3H4→3H6 of Tm3+...
March 25, 2018: Chemistry: a European Journal
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