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https://www.readbyqxmd.com/read/28725987/gene-mutation-spectrum-and-genotype-phenotype-correlation-in-a-cohort-of-chinese-osteogenesis-imperfecta-patients-revealed-by-targeted-next-generation-sequencing
#1
Y Liu, Asan, D Ma, F Lv, X Xu, J Wang, W Xia, Y Jiang, O Wang, X Xing, W Yu, J Wang, J Sun, L Song, Y Zhu, H Yang, J Wang, M Li
The achievement of more accurate diagnosis would greatly benefit the management of patients with osteogenesis imperfecta (OI). In this study, we present the largest OI sample in China as screened by next generation sequencing. In particular, we successfully identified 81 variants, which included 45 novel variants. We further did a genotype-phenotype analysis, which helps make a better understanding of OI. INTRODUCTION: This study aims to reveal the gene mutation spectrum and the genotype-phenotype relationship among Chinese OI patients by next generation sequencing (NGS)...
July 19, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28724466/home-environment-as-a-predictor-of-long-term-executive-functioning-following-early-childhood-traumatic-brain-injury
#2
Christianne Laliberté Durish, Keith Owen Yeates, Terry Stancin, H Gerry Taylor, Nicolay C Walz, Shari L Wade
OBJECTIVES: This study examined the relationship of the home environment to long-term executive functioning (EF) following early childhood traumatic brain injury (TBI). METHODS: Participants (N=134) were drawn from a larger parent study of 3- to 6-year-old children hospitalized for severe TBI (n=16), complicated mild/moderate TBI (n=44), or orthopedic injury (OI; n=74), recruited prospectively at four tertiary care hospitals in the United States and followed for an average of 6...
July 20, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28723855/four-year-outcomes-after-cessation-of-tenofovir-in-immune-tolerant-chronic-hepatitis-b-patients
#3
Vincent Wai-Sun Wong, Aric J Hui, Grace Lai-Hung Wong, Rosita Suk-Yi Chan, Angel Mei-Ling Chim, Angeline Oi-Shan Lo, Henry Lik-Yuen Chan
GOALS: To study the long-term outcome after cessation of antiviral therapy in immune-tolerant patients. BACKGROUND: Experience in the treatment of immune-tolerant chronic hepatitis B is scanty. Some immune-tolerant patients may receive temporary antiviral therapy, such as for prevention of vertical transmission at pregnancy or prophylaxis for chemotherapy. STUDY: This was a follow-up study of a phase 2 trial at 2 centers. Immune-tolerant patients received tenofovir disoproxil fumarate and/or emtricitabine for 4 years and were followed for another 4 years after treatment cessation...
July 18, 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28723699/intraoperative-bleeding-in-patients-with-osteogenesis-imperfecta-type-iii-treated-by-fassier-duval-femoral-rodding-analysis-of-risk-factors
#4
Pietro Persiani, Maria V Pesce, Lorena Martini, Filippo M Ranaldi, Patrizia D'Eufemia, Anna Zambrano, Mauro Celli, Ciro Villani
The surgical treatment of osteogenesis imperfecta (OI) is negatively influenced by clinical features such as osteoporosis, limb deformities and bone changes caused by bisphosphonate therapy. Blood loss during femoral nailing surgeries in patients with OI is a serious problem. Platelet anomalies have been associated with an elevation of the serum pyrophosphate originating from the platelets during clotting, even if the causality with the platelet dysfunction has not yet been established. To identify predictive risk factors regarding intraoperative bleeding, a retrospective analysis was conducted on 23 patients aged between 6 and 13 years, affected by OI type III, who were treated to correct femoral deformities or to perform an osteosynthesis for femoral shaft fractures, using the Fassier-Duval telescopic nail...
July 18, 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/28721059/cost-effectiveness-analysis-of-dolutegravir-plus-backbone-compared-with-raltegravir-plus-backbone-darunavir-ritonavir-plus-backbone-and-efavirenz-tenofovir-emtricitabine-in-treatment-na%C3%A3-ve-and-experienced-hiv-positive-patients
#5
Umberto Restelli, Giuliano Rizzardini, Andrea Antinori, Adriano Lazzarin, Marzia Bonfanti, Paolo Bonfanti, Davide Croce
BACKGROUND: In January 2014, the European Medicines Agency issued a marketing authorization for dolutegravir (DTG), a second-generation integrase strand transfer inhibitor for HIV treatment. The study aimed at determining the incremental cost-effectiveness ratio (ICER) of the use of DTG+backbone compared with raltegravir (RAL)+backbone, darunavir (DRV)+ritonavir(r)+backbone and efavirenz/tenofovir/emtricitabine (EFV/TDF/FTC) in HIV-positive treatment-naïve patients and compared with RAL+backbone in treatment-experienced patients, from the Italian National Health Service's point of view...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28719610/a-decade-of-hiv-care-in-rural-tanzania-trends-in-clinical-outcomes-and-impact-of-clinic-optimisation-in-an-open-prospective-cohort
#6
Fiona Vanobberghen, Emilio Letang, Anna Gamell, Dorcas K Mnzava, Diana Faini, Lameck B Luwanda, Herry Mapesi, Kim Mwamelo, George Sikalengo, Marcel Tanner, Christoph Hatz, Hansjakob Furrer, Manuel Battegay, Tracy R Glass
OBJECTIVES: Our objectives were to describe trends in enrolment and clinical outcomes in the open, prospective Kilombero and Ulanga Antiretroviral Cohort (KIULARCO) in the Morogoro region of southern Tanzania, and identify strengths and areas for improvement in the care of HIV-positive individuals in rural Tanzania. METHODS: We included adults (≥15 years) and children (<15 years) enrolled in the cohort in 2005-2014. The cohort underwent significant changes from autumn 2012 to optimise care...
2017: PloS One
https://www.readbyqxmd.com/read/28719361/effectiveness-of-valganciclovir-900mg-versus-450mg-for-cytomegalovirus-prophylaxis-in-renal-transplantation-a-systematic-review-and-meta-analysis
#7
Wang Xin, Yang Hui, Zhang Xiaodong, Cui Xiangli, Wang Shihui, Liu Lihong
OBJECTIVES: Valganciclovir 900 mg/day is approved for cytomegalovirus (CMV) prophylaxis, but 450 mg/day is seems also effective. We systematically reviewed the efficacy and safety of low-dose versus high-dose valganciclovir prophylaxis in renal transplantation recipients. METHODS: An electronic search was conducted up to November 29, 2016. The primary outcomes were incidences of CMV, CMV disease, mortality and opportunistic infection. The second outcomes were acute rejection, allograft loss, adverse drug reaction (ADR)...
2017: Journal of Pharmacy & Pharmaceutical Sciences: a Publication of the Canadian Society for Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28719295/regional-differences-in-the-prevalence-of-major-opportunistic-infections-among-antiretroviral-na%C3%A3-ve-human-immunodeficiency-virus-patients-in-japan-northern-thailand-northern-vietnam-and-the-philippines
#8
Louie Mar A Gangcuangco, Ikumi Sawada, Naho Tsuchiya, Cuong D Do, Thanh Thuy T Pham, Archawin Rojanawiwat, Marissa Alejandria, Katerina Leyritana, Yoshiyuki Yokomaku, Panita Pathipvanich, Koya Ariyoshi
To identify regional differences in the distribution of opportunistic infections (OIs) among human immunodeficiency virus (HIV)-infected patients in Asia, the medical records of antiretroviral therapy (ART)-naïve patients who attended the following tertiary hospitals from 2003 to 2011 were reviewed: Nagoya Medical Center (NMC, Nagoya, Japan), Lampang Hospital (LPH, Lampang, northern Thailand), Bach Mai Hospital (BMH, Hanoi, northern Vietnam), and Philippine General Hospital (PGH, Manila, Philippines). Logistic regression analyses were performed to identify associations between country of origin and risk of major OIs...
July 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28716975/metabolic-phenotype-in-the-mouse-model-of-osteogenesis-imperfecta
#9
Iris Boraschi-Diaz, Josephine T Tauer, Omar El Rifai, Delphine Guillemette, Geneviève Lefebvre, Frank Rauch, Mathieu Ferron, Svetlana V Komarova
Osteogenesis Imperfecta (OI) is the most common heritable bone fragility disorder, usually caused by dominant mutations in genes coding for collagen type I alpha chains, COL1A1 or COL1A2. Osteocalcin is now recognized as a bone-derived regulator of insulin secretion and sensitivity and glucose homeostasis. Since OI is associated with increased rates of bone formation and resorption, we hypothesized that the levels of undercarboxylated osteocalcin are increased in OI. The objective of this study was to determine changes in osteocalcin and to elucidate the metabolic phenotype in the Col1a1Jrt/+ mouse, a model of dominant OI caused by a Col1a1 mutation...
July 17, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28711111/to-do-or-not-to-do-task-control-deficit-in-obsessive-compulsive-disorder
#10
Eyal Kalanthroff, Avishai Henik, Helen Blair Simpson, Doron Todder, Gideon E Anholt
Task control is an executive control mechanism that facilitates goal-directed task selection by suppressing irrelevant automatic "stimulus-driven" behaviors. In the current study, we test the hypothesis that less efficient task control in individuals diagnosed with obsessive-compulsive disorder (OCD) is associated with OCD symptoms, and specifically, with the inability to inhibit unwanted behaviors in OCD. Thirty-five healthy controls, 30 participants with OCD, and 26 participants with generalized anxiety disorder (GAD) completed the object-interference (OI) task to measure task control, the stop-signal task to measure response inhibition, and the arrow-flanker task to evaluate executive abilities not contingent upon task control...
September 2017: Behavior Therapy
https://www.readbyqxmd.com/read/28710227/advancing-concussion-assessment-in-pediatrics-a-cap-a-prospective-concurrent-cohort-longitudinal-study-of-mild-traumatic-brain-injury-in-children-protocol-study
#11
Keith Owen Yeates, Miriam Beauchamp, William Craig, Quynh Doan, Roger Zemek, Bruce Bjornson, Jocelyn Gravel, Angelo Mikrogianakis, Bradley Goodyear, Nishard Abdeen, Christian Beaulieu, Mathieu Dehaes, Sylvain Deschenes, Ashley Harris, Catherine Lebel, Ryan Lamont, Tyler Williamson, Karen Maria Barlow, Francois Bernier, Brian L Brooks, Carolyn Emery, Stephen B Freedman, Kristina Kowalski, Kelly Mrklas, Lianne Tomfohr-Madsen, Kathryn J Schneider
INTRODUCTION: Paediatric mild traumatic brain injury (mTBI) is a public health burden. Clinicians urgently need evidence-based guidance to manage mTBI, but gold standards for diagnosing and predicting the outcomes of mTBI are lacking. The objective of the Advancing Concussion Assessment in Pediatrics (A-CAP) study is to assess a broad pool of neurobiological and psychosocial markers to examine associations with postinjury outcomes in a large sample of children with either mTBI or orthopaedic injury (OI), with the goal of improving the diagnosis and prognostication of outcomes of paediatric mTBI...
July 13, 2017: BMJ Open
https://www.readbyqxmd.com/read/28708735/evaluation-and-minimization-of-the-pseudohepatic-anisotropy-artifact-in-liver-intravoxel-incoherent-motion
#12
Oi Lei Wong, Gladys Goh Lo, Jing Yuan, Wai Kit Chung, Wing Hung Benny Ho, Michael D Noseworthy
PURPOSE: The aim of this study was to evaluate the effect of the pseudohepatic anisotropy artifact on liver intravoxel incoherent motion (IVIM) metrics and whether the use of multiple gradient directions in the IVIM acquisition minimizes the artifact. MATERIALS AND METHODS: Multiple breath-holding and forced shallow free-breathing IVIM scans were performed on 8 healthy volunteers using 1 and 6 gradient directions. Cluster analysis was carried out to separate motion-contaminated parenchyma from liver parenchyma and vessels...
July 13, 2017: Journal of Computer Assisted Tomography
https://www.readbyqxmd.com/read/28701597/randomized-comparative-study-of-intravenous-infusion-of-three-different-fixed-doses-of-milrinone-in-pediatric-patients-with-pulmonary-hypertension-undergoing-open-heart-surgery
#13
Neeraj Kumar Barnwal, Sanjeeta Rajendra Umbarkar, Manjula Sudeep Sarkar, Raylene J Dias
BACKGROUND: Pulmonary hypertension secondary to congenital heart disease is a common problem in pediatric patients presenting for open heart surgery. Milrinone has been shown to reduce pulmonary vascular resistance and pulmonary artery pressure in pediatric patients and neonates postcardiac surgery. We aimed to evaluate the postoperative outcome in such patients with three different fixed maintenance doses of milrinone. METHODOLOGY: Patients were randomized into three groups...
July 2017: Annals of Cardiac Anaesthesia
https://www.readbyqxmd.com/read/28697737/radiologic-evaluation-of-orbital-index-among-ghanaians-using-ct-scan
#14
Benard Ohene Botwe, Derick Seyram Sule, Abdul Mumin Ismael
BACKGROUND: Orbital index (OI) expresses the proportion of the orbital height to the orbital width and varies with race, regions within the same race and periods in evolution. This index is useful in forensic medicine, anthropology and surgery. However, the average OI among Ghanaian adults was unknown. AIM: The aim of this study was to determine the orbital index of adult Ghanaians and classify them under one of the three predetermined groups. METHOD: The study design was a retrospective cross-sectional...
July 11, 2017: Journal of Physiological Anthropology
https://www.readbyqxmd.com/read/28695437/quantitative-aspects-of-communicative-impairment-ascertained-in-a-large-national-survey-of-japanese-children
#15
Manabu Oi, Hiroshi Fujino, Naotake Tsukidate, Yoko Kamio, Yuko Yoshimura, Mitsuru Kikuchi, Chiaki Hasegawa, Keiko Gondou, Tomoko Matsui
The Japanese version of the Children's Communication Checklist-2 (CCC-2) was rated by caregivers in a large national population sample of 22,871 children aged 3-15 years. The General Communication Composite (GCC) of the CCC-2 exhibited a distribution with a single-factor structure. The GCC distribution between autism spectrum disorders (ASD) and language impairment (LI) groups in the general population fit inside a bell curve with significant overlap with the general population, and a continuum was evident between groups...
July 10, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/28692452/acetabular-protrusio-in-patients-with-osteogenesis-imperfecta-risk-factors-and-progression
#16
Junho Ahn, Erin Carter, Cathleen L Raggio, Daniel W Green
BACKGROUND: Osteogenesis imperfecta (OI) is a genetic disorder commonly associated with osteopenia, osteoporosis, bone fractures, bone deformities, and other clinical features. A frequent radiologic finding with OI is acetabular protrusio (AP). We hypothesized that AP develops in patients with OI over time. In addition, we hypothesized that AP also develops in patients with OI without radiographic evidence of AP on initial examination. METHODS: Medical records and radiographs of 55 patients (109 hips) diagnosed with OI evaluated at our institution were retrospectively reviewed...
July 7, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28692443/a-single-test-combining-blood-markers-and-elastography-is-more-accurate-than-other-fibrosis-tests-in-the-main-causes-of-chronic-liver-diseases
#17
Alexandra Ducancelle, Vincent Leroy, Julien Vergniol, Nathalie Sturm, Brigitte Le Bail, Jean Pierre Zarski, Eric Nguyen Khac, Dominique Salmon, Victor de Ledinghen, Paul Calès
BACKGROUND AND GOAL: International guidelines suggest combining a blood test and liver stiffness measurement (LSM) to stage liver fibrosis in chronic hepatitis C (CHC) and non-alcoholic fatty liver disease (NAFLD). Therefore, we compared the accuracies of these tests between the main etiologies of chronic liver diseases. STUDY: Overall, 1968 patients were included in 5 etiologies: CHC: 698, chronic hepatitis B: 152, human immunodeficiency virus/CHC: 628, NAFLD: 225, and alcoholic liver disease (ALD): 265...
August 2017: Journal of Clinical Gastroenterology
https://www.readbyqxmd.com/read/28689307/long-term-follow-up-in-osteogenesis-imperfecta-type-vi
#18
P Trejo, T Palomo, K Montpetit, F Fassier, A Sato, F H Glorieux, F Rauch
This retrospective study on long-term outcomes in osteogenesis imperfecta type VI found that patients who received intravenous bisphosphonate treatment had an increase in lumbar spine areal bone mineral density, a higher final height z-score, and some reshaping of vertebral bodies. INTRODUCTION: Osteogenesis imperfecta (OI) type VI is an ultra-rare bone fragility disorder caused by recessive mutations in SERPINF1. Here, we describe long-term outcomes in OI type VI and compare the clinical phenotypes caused by different types of SERPINF1 mutations...
July 9, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28688970/secretory-stanniocalcin-1-promotes-metastasis-of-hepatocellular-carcinoma-through-activation-of-jnk-signaling-pathway
#19
Kristy Kwan-Shuen Chan, Carmen Oi-Ning Leung, Carmen Chak-Lui Wong, Daniel Wai-Hung Ho, Kenneth Siu-Ho Chok, Ching-Lung Lai, Irene Oi-Lin Ng, Regina Cheuk-Lam Lo
The hypoxic microenvironment is well-characterized in hepatocellular carcinoma (HCC). Delineation of hypoxia-responsive events is an integral part to understand the pathogenesis of HCC. We studied the functional role and clinical relevance of Stanniocalcin 1 (STC1), a hypoxia-induced molecular target, in HCC. In our clinical cohort, STC1 transcript was up-regulated in HCC tumor tissues. Moreover, STC1 protein was detected in the sera of HCC patients. A higher serum STC1 level was correlated with larger tumor size and poorer 5-year disease-free survival...
July 6, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28688260/soil-aggregate-stability-and-size-selective-sediment-transport-with-surface-runoff-as-affected-by-organic-residue-amendment
#20
Pu Shi, Christian Arter, Xingyu Liu, Martin Keller, Rainer Schulin
Aggregate breakdown influences the availability of soil particles for size-selective sediment transport with surface runoff during erosive rainfall events. Organic matter management is known to affect aggregate stability against breakdown, but little is known about how this translates into rainfall-induced aggregate fragmentation and sediment transport under field conditions. In this study, we performed field experiments in which artificial rainfall was applied after pre-wetting on three pairs of arable soil plots (1...
July 5, 2017: Science of the Total Environment
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