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https://www.readbyqxmd.com/read/28548288/hypermineralization-and-high-osteocyte-lacunar-density-in-osteogenesis-imperfecta-type-v-bone-indicate-exuberant-primary-bone-formation
#1
Stéphane Blouin, Nadja Fratzl-Zelman, Francis H Glorieux, Paul Roschger, Klaus Klaushofer, Joan C Marini, Frank Rauch
In contrast to "classical" forms of Osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted ifitm-like protein (BRIL). Its phenotype distinctly differs from OI types I to IV by absence of blue sclerae and dentinogenesis imperfecta, by the occurrence of ossification disorders like hyperplastic callus and forearm interosseous membrane ossification...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28544519/the-effect-of-helium-oxygen-assisted-mechanical-ventilation-on-chronic-obstructive-pulmonary-disease-exacerbation-a-systemic-review-and-meta-analysis
#2
Xu Wu, Chuan Shao, Liang Zhang, Jinjing Tu, Hui Xu, Zhihui Lin, Shuguang Xu, Biyun Yu, Yaodong Tang, Shanqun Li
BACKGROUND: Chronic obstructive pulmonary disease (COPD) is often accompanied by acute exacerbations. Patients of COPD exacerbation suffering from respiratory failure often need the support of mechanical ventilation. Helium-oxygen can be used to reduce airway resistance during mechanical ventilation. The aim of this study is to evaluate the effect of helium-oxygen-assisted mechanical ventilation on COPD exacerbation through a meta-analysis. METHODS: A comprehensive literature search through databases of Pub Med (1966∼2016), Ovid MEDLINE (1965∼2016), Cochrane EBM (1991∼2016), EMBASE (1974∼2016) and Ovid MEDLINE was performed to identify associated studies...
May 24, 2017: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28543731/neuroimaging-biomarkers-and-impaired-olfaction-in-cognitively-normal-individuals
#3
Maria Vassilaki, Teresa J Christianson, Michelle M Mielke, Yonas E Geda, Walter K Kremers, Mary M Machulda, David S Knopman, Ronald C Petersen, Val J Lowe, Clifford R Jack, Rosebud O Roberts
OBJECTIVE: There is a need for inexpensive non-invasive tests to identify older healthy persons at risk for Alzheimer's disease (AD) for enrollment in AD prevention trials. Our objective was to examine whether abnormalities in neuroimaging measures of amyloid and neurodegeneration are correlated with odor identification (OI) in the population-based Mayo Clinic Study of Aging (MCSA). METHODS: Cognitively normal (CN) participants had olfactory function assessed using the Brief Smell Identification Test (B-SIT), underwent magnetic resonance imaging (MRI; n=829) to assess a composite Alzheimer's disease (AD) signature cortical thickness and hippocampal volume (HVa), and, (11) C-Pittsburgh compound B ((11) C-PiB; n=306) and (18) fluorodeoxyglucose ((18) F-FDG; n=305) positron emission tomography (PET) scanning to assess amyloid accumulation and brain hypometabolism, respectively...
May 22, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28543685/the-inexpensive-additive-n-methylmorpholine-effectively-decreases-the-equivalents-of-nucleophiles-in-the-catalytic-highly-enantioselective-arylation-of-aryl-aldehydes
#4
Pei Wang, Yue Liu, Ya-Lun Zhang, Chao-Shan Da
Highly enantioselective arylation of aryl aldehydes catalyzed by (S)-H8 -BINOL-Ti(Oi-Pr)2 complex in the presence of N-methylmorpholine (NMM) as an effective and inexpensive additive is described for the first time. We found high enantioselectivity and yield but successfully reduced the equivalents of nucleophiles triarylaluminums by 50% compared with our previous report. The practicability of the process was thereby greatly increased.
May 25, 2017: Chirality
https://www.readbyqxmd.com/read/28541083/the-family-environment-predicts-long-term-academic-achievement-and-classroom-behavior-following-traumatic-brain-injury-in-early-childhood
#5
Chelsea M Durber, Keith Owen Yeates, H Gerry Taylor, Nicolay Chertkoff Walz, Terry Stancin, Shari L Wade
OBJECTIVE: This study examined how the family environment predicts long-term academic and behavioral functioning in school following traumatic brain injury (TBI) in early childhood. METHOD: Using a concurrent cohort, prospective design, 15 children with severe TBI, 39 with moderate TBI, and 70 with orthopedic injury (OI) who were injured when they were 3-7 years of age were compared on tests of academic achievement and parent and teacher ratings of school performance and behavior on average 6...
May 25, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28534554/-relation-between-preoperative-prognostic-onodera-s-index-and-postsurgery-complications-in-the-r0-gastric-carcinoma-resection
#6
F Borda, C Miranda, A Borda, E Echeverría, A Guerra, J J Iñigo, J M Zozaya
BACKGROUND: It has been postulated in the Asian literature that a low prognostic nutritional index (OI) could be associated with a higher rate of complications following radical gastric cancer surgery, but there is a lack of data concerning western countries. The aim is to analyze the relationship between a low preoperative OI and the frequency and severity of surgical complications in R0 gastric cancer resection. PATIENTS AND METHODS: In the present article, 124 cases of gastric cancer with R0 resection were reviewed...
April 30, 2017: Anales del Sistema Sanitario de Navarra
https://www.readbyqxmd.com/read/28532996/histone-methyltransferase-g9a-promotes-liver-cancer-development-by-epigenetic-silencing-of-tumor-suppressor-gene-rarres3
#7
Lai Wei, David Kung-Chun Chiu, Felice Ho-Ching Tsang, Dicky Cheuk-Ting Law, Carol Lai-Hung Cheng, Sandy Leung-Kuen Au, Joyce Man-Fong Lee, Carmen Chak-Lui Wong, Irene Oi-Lin Ng, Chun-Ming Wong
BACKGROUND AND AIMS: Hepatocellular carcinoma (HCC) is a major leading cause of cancer mortality worldwide. Epigenetic deregulation is a common trait of human HCC. G9s is an important epigenetics regulator. However, its roles in liver carcinogenesis remain to be investigated. METHODS: Gene expressions were determined by RNA-Seq and qRT-PCR. G9a knockdown and knockout cell lines were established by lentiviral-based shRNA and CRISPR/Cas9 gene editing system. Tumor promoting functions of G9a was studied by both in HCC cell lines and nude mice model...
May 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28529479/in-patients-undergoing-cochlear-implantation-psychological-burden-affects-tinnitus-and-the-overall-outcome-of-auditory-rehabilitation
#8
Petra Brüggemann, Agnieszka J Szczepek, Katharina Klee, Stefan Gräbel, Birgit Mazurek, Heidi Olze
Cochlear implantation (CI) is increasingly being used in the auditory rehabilitation of deaf patients. Here, we investigated whether the auditory rehabilitation can be influenced by the psychological burden caused by mental conditions. Our sample included 47 patients who underwent implantation. All patients were monitored before and 6 months after CI. Auditory performance was assessed using the Oldenburg Inventory (OI) and Freiburg monosyllable (FB MS) speech discrimination test. The health-related quality of life was measured with Nijmegen Cochlear implantation Questionnaire (NCIQ) whereas tinnitus-related distress was measured with the German version of Tinnitus Questionnaire (TQ)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28528406/responsiveness-to-pamidronate-treatment-is-not-related-to-the-genotype-of-type-i-collagen-in-patients-with-osteogenesis-imperfecta
#9
Junko Kanno, Akiko Saito-Hakoda, Shigeo Kure, Ikuma Fujiwara
Osteogenesis imperfecta (OI) is a heritable disorder characterized by increased bone fragility, low bone mass, dentinogenesis imperfecta, and blue sclerae. Most patients with OI have a mutation in either COL1A1 or COL1A2, which encode type I collagen. We screened these genes in Japanese patients with OI and compared their genotype and phenotype, focusing on the clinical response to treatment with pamidronate. Sequencing analysis of the genes in 19 families revealed 15 mutations, of which ten were missense mutations, thee were nonsense mutations, and two were frameshift mutations...
May 20, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28528193/novel-missense-loss-of-function-mutations-of-wnt1-in-an-autosomal-recessive-osteogenesis-imperfecta-patient
#10
Joon Yeon Won, Woo Young Jang, Hye-Ran Lee, Seon Young Park, Woo-Young Kim, Jong Hoon Park, Yonghwan Kim, Tae-Joon Cho
Osteogenesis imperfecta (OI) is a heritable skeletal disorder characterized by bone fragility and low bone mass. Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis. We report an OI patient with novel compound heterozygous WNT1 missense mutations, p.Glu123Asp and p.Cys153Gly. Both mutations are found in the exon 3, and the p.Glu123Asp is the most proximal N-terminus missense mutation among the reported WNT1 missense mutations in OI patients. In vitro functional analysis reveals that while expression of wildtype WNT1 stimulates canonical WNT1-mediated β-catenin signaling, that of individual WNT1 mutant fails to do so, indicative of the pathogenic nature of the WNT1 variants...
May 17, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28527158/asymptomatic-cryptococcal-antigenemia-in-people-living-with-hiv-plhiv-with-severe-immunosuppression-is-routine-crag-screening-indicated-in-india
#11
S Anuradha, Abhaya Narayana H, Richa Dewan, Ravinder Kaur, K Rajeshwari
BACKGROUND: Cryptococcal meningitis (CM) is a common, life-threatening opportunistic infection (OI) among people living with HIV (PLHIV) in India. Serum Cryptococcal antigen (CrAg) positivity is predictive of future occurrence of CM and pre-emptive treatment reduces its mortality. Routine CrAg screening among PLHIV is not adopted by India's national programme. This study evaluated the prevalence of CrAg and assessed CrAg positivity in predicting all-cause mortality among PLHIV. METHODS: This prospective study was conducted in a tertiary care, public health facility in New Delhi, India...
April 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28526233/keratinocyte-growth-factor-for-the-treatment-of-the-acute-respiratory-distress-syndrome-kare-a-randomised-double-blind-placebo-controlled-phase-2-trial
#12
Daniel F McAuley, Lj Mark Cross, Umar Hamid, Evie Gardner, J Stuart Elborn, Kathy M Cullen, Ahilanandan Dushianthan, Michael Pw Grocott, Michael A Matthay, Cecilia M O'Kane
BACKGROUND: Data from in-vitro, animal, and human lung injury models suggest that keratinocyte growth factor (KGF) might be beneficial in acute respiratory distress syndrome (ARDS). The objective of this trial was to investigate the effect of KGF in patients with ARDS. METHODS: We did a double-blind, allocation concealed, randomised, placebo-controlled phase 2 trial in two intensive care units in the UK, involving patients fulfilling the American-European Consensus Conference Definition of ARDS...
May 16, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28520662/anxiety-disorders-in-adults-with-childhood-traumatic-brain-injury-evidence-of-difficulties-more-than-10-years-postinjury
#13
Michelle Albicini, Audrey McKinlay
OBJECTIVE: To explore long-term psychiatric outcomes in individuals with a history of childhood traumatic brain injury (TBI) or orthopedic injury (OI). SETTING: Hospital emergency department, medical admission records and outpatient settings. PARTICIPANTS: There were 95 males (M = 22.78 years, SD = 3.44 years) and 74 females (M = 22.27 years, SD = 3.09 years), 65 with mild TBI (M = 23.25 years, SD = 3.58 years), 61 with moderate-severe TBI (M = 22...
May 17, 2017: Journal of Head Trauma Rehabilitation
https://www.readbyqxmd.com/read/28518078/non-invasive-in-vivo-fluorescence-optical-imaging-of-inflammatory-mmp-activity-using-an-activatable-fluorescent-imaging-agent
#14
Johannes Schwenck, Florian C Maier, Manfred Kneilling, Stefan Wiehr, Kerstin Fuchs
This paper describes a non-invasive method for imaging matrix metalloproteinases (MMP)-activity by an activatable fluorescent probe, via in vivo fluorescence optical imaging (OI), in two different mouse models of inflammation: a rheumatoid arthritis (RA) and a contact hypersensitivity reaction (CHR) model. Light with a wavelength in the near infrared (NIR) window (650 - 950 nm) allows a deeper tissue penetration and minimal signal absorption compared to wavelengths below 650 nm. The major advantages using fluorescence OI is that it is cheap, fast and easy to implement in different animal models...
May 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28516046/image-quality-assessment-of-a-1-5t-dedicated-magnetic-resonance-simulator-for-radiotherapy-with-a-flexible-radio-frequency-coil-setting-using-the-standard-american-college-of-radiology-magnetic-resonance-imaging-phantom-test
#15
Oi Lei Wong, Jing Yuan, Siu Ki Yu, Kin Yin Cheung
BACKGROUND: A flexible RF coil setting has to be used on an MR-simulator (MR-sim) in the head and neck simulation scan for radiotherapy (RT) purpose, while the image quality might be compromised due to the sub-optimized flexible coil compared to the normal diagnostic radiological (DR) head coil. In this study, we assessed the image quality of an MR-sim by conducting the standard American College of Radiology (ACR) MRI phantom test on a 1.5T MR-sim under RT-setting and comparing it to DR-setting...
April 2017: Quantitative Imaging in Medicine and Surgery
https://www.readbyqxmd.com/read/28514393/-subtraction-ct-angiopulmonographic-assessment-of-the-vascular-bed-and-lung-perfusion-in-patients-with-chronic-thromboembolic-pulmonary-hypertension-a-pilot-study
#16
T N Veselova, A Yu Demchenkova, T V Martynyuk, N M Danilov, S K Ternovoy, I E Chazova
AIM: To evaluate the vascular bed and lung perfusion in patients with chronic thromboembolic pulmonary hypertension (CTEPH) by computed tomography (CT) and to compare the severity of pulmonary arterial (PA) thrombotic lesions concurrent with parenchymal perfusion disorders with angiopulmonographic findings and clinical and hemodynamic characteristics. SUBJECTS AND METHODS: In the period from November 2015 to May 2016, 22 patients (7 men, 15 women) aged 27 to 67 years with a verified diagnosis of CTEPH were examined using an Aquilion ONE VISION Edition 640 (Toshiba Medical Systems, Japan) CT scanner with a 320-row detector...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/28514292/isolated-olecranon-fractures-in-children-affected-by-osteogenesis-imperfecta-type-i-treated-with-single-screw-or-tension-band-wiring-system-outcomes-and-pitfalls-in-relation-to-bone-mineral-density
#17
Pietro Persiani, Filippo M Ranaldi, Jole Graci, Claudia De Cristo, Anna Zambrano, Patrizia D'Eufemia, Lorena Martini, Ciro Villani
The purpose of this study is to compare the results of 2 techniques, tension band wiring (TBW) and fixation with screws, in olecranon fractures in children affected with osteogenesis imperfecta (OI) type I. Between 2010 and 2014, 21 olecranon fractures in 18 children with OI (average age: 12 years old) were treated surgically. Ten patients were treated with the screw fixation and 11 with TBW. A total of 65% of olecranon fractures occurred as a result of a spontaneous avulsion of the olecranon during the contraction of the triceps muscle...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28513522/comparison-between-olfactory-function-of-pregnant-women-and-non-pregnant-women-in-reproductive-age-group-in-ibadan-nigeria
#18
U Nwankwo, A J Fasunla, A Oladokun, O G Nwaorgu
BACKGROUND: Pregnant women require normal olfactory function in order to develop good appetite for healthy living and normal fetal development. This study was carried out to investigate and compare olfactory function of pregnant women with non-pregnant women. METHODS: This was a case control study of women in reproductive age group at the University College Hospital, Ibadan, Nigeria from July 2014 to February 2015. Consecutive 70 pregnant women and 70 non-pregnant women (controls) without rhinologic symptoms were studied...
May 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/28511727/rejection-sensitivity-as-a-moderator-of-psychosocial-outcomes-following-pediatric-traumatic-brain-injury
#19
Emily A Meadows, Keith Owen Yeates, Kenneth H Rubin, H Gerry Taylor, Erin D Bigler, Maureen Dennis, Cynthia A Gerhardt, Kathryn Vannatta, Terry Stancin, Kristen R Hoskinson
OBJECTIVES: The current study examines whether psychosocial outcomes following pediatric traumatic brain injury (TBI) vary as a function of children's rejection sensitivity (RS), defined as their disposition to be hypersensitive to cues of rejection from peers. METHODS: Children ages 8-13 with a history of severe TBI (STBI, n=16), complicated mild/moderate TBI (n=35), or orthopedic injury (OI, n=49) completed measures assessing self-esteem and RS on average 3.28 years post-injury (SD=1...
May 17, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28505998/-i-really-hope-it-comes-back-olfactory-impairment-following-traumatic-brain-injury-a-longitudinal-study
#20
Melanie Drummond, Jacinta Douglas, John Olver
BACKGROUND: Olfactory Impairment (OI) can present in up to 66% of all individuals following traumatic brain injury (TBI) and can have significant implications for everyday life. OBJECTIVE: To investigate the predictive factors, natural progression and consequences of OI in following TBI in individuals 12 months post injury. METHODS: In this prospective longitudinal study, 37 adults (28 males, 9 females), mean age 42.3 years (SD 19.4), with predominately severe TBI (mean length of posttraumatic amnesia (PTA) 28...
May 11, 2017: NeuroRehabilitation
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