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https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#1
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327514/consumption-of-yogurt-and-the-incident-risk-of-cardiovascular-disease-a-meta-analysis-of-nine-cohort-studies
#2
REVIEW
Lei Wu, Dali Sun
Previous systematic reviews and meta-analyses have evaluated the association of dairy consumption and the risk of cardiovascular disease (CVD). However, the findings were inconsistent. No quantitative analysis has specifically assessed the effect of yogurt intake on the incident risk of CVD. We searched the PubMed and the Embase databases from inception to 10 January 2017. A generic inverse-variance method was used to pool the fully-adjusted relative risks (RRs) and the corresponding 95% confidence intervals (CIs) with a random-effects model...
March 22, 2017: Nutrients
https://www.readbyqxmd.com/read/28326453/violent-trauma-recidivism-does-all-violence-escalate
#3
R M Nygaard, A P Marek, S R Daly, J M Van Camp
PURPOSE: Rates of trauma patients presenting with history of prior trauma range from 25 to 44%. Outcomes involving recidivists in the setting of intentional trauma, especially penetrating trauma, are conflicting. We hypothesized that if violence does escalate with successive incidence, then injuries due to successive violence should escalate or become increasingly severe with successive admissions. METHODS: The trauma registry from an urban level I adult and pediatric trauma center was queried for injuries due to blunt assault, stabbing, and firearm injury...
March 22, 2017: European Journal of Trauma and Emergency Surgery: Official Publication of the European Trauma Society
https://www.readbyqxmd.com/read/28325784/the-prevention-of-gestational-diabetes-mellitus-with-antenatal-oral-inositol-supplementation-a-randomized-controlled-trial
#4
Maria Farren, Niamh Daly, Aoife McKeating, Brendan Kinsley, Michael J Turner, Sean Daly
OBJECTIVES: This study investigated if inositol in a combination of myo-inositol and D-Chiro-inositol would prevent gestational diabetes mellitus (GDM) in women with a family history of diabetes. RESEARCH DESIGN AND METHODS: This was a randomized controlled trial that examined whether inositol from the first antenatal visit prevents GDM. The trial was carried out in a single-center tertiary referral center. Women with a family history of diabetes were enrolled at the first antenatal visit...
March 21, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28324881/optic-radiation-tractography-and-visual-field-deficits-in-laser-interstitial-thermal-therapy-for-amygdalohippocampectomy-in-patients-with-mesial-temporal-lobe-epilepsy
#5
Dali Yin, John A Thompson, Cornelia Drees, Steven G Ojemann, Lidia Nagae, Victoria S Pelak, Aviva Abosch
BACKGROUND/AIMS: Laser interstitial thermal therapy (LITT) has become an alternative to open-resective surgery for refractory mesial temporal lobe epilepsy (MTLE). Occurrence of visual field defects (VFDs) following open surgery for MTLE is reported at 52-100%. We examined the rate of VFDs following LITT for amygdalohippocampectomy (AHE) and correlated the occurrence of VFDs with damage to the optic radiations, assessed by diffusion tensor tractography (DTI). METHODS: We performed a retrospective analysis of 5 patients who underwent LITT-AHE for medically refractory MTLE...
March 22, 2017: Stereotactic and Functional Neurosurgery
https://www.readbyqxmd.com/read/28323355/the-modelled-cost-effectiveness-of-cognitive-dissonance-for-the-prevention-of-anorexia-nervosa-and-bulimia-nervosa-in-adolescent-girls-in-australia
#6
Long Khanh-Dao Le, Jan J Barendregt, Phillipa Hay, Susan M Sawyer, Susan J Paxton, Cathrine Mihalopoulos
BACKGROUND: Eating disorders (EDs), including anorexia nervosa (AN) and bulimia nervosa (BN), are prevalent disorders that carry substantial economic and social burden. The aim of the current study was to evaluate the modelled population cost-effectiveness of cognitive dissonance (CD), a school-based preventive intervention for EDs, in the Australian health care context. METHOD: A population-based Markov model was developed to estimate the cost per disability adjusted life-year (DALY) averted by CD relative to no intervention...
March 21, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/28323125/minocycline-hepatotoxicity-clinical-characterization-and-identification-of-hla-b%C3%A2-35-02-as-a-risk-factor
#7
Thomas Jacob Urban, Paola Nicoletti, Naga Chalasani, Jose Serrano, Andrew Stolz, Ann Daly, Guruprasad Aithal, John Dillon, Victor Navarro, Joseph Odin, Huiman Barnhart, David Ostrov, Nanye Long, Elizabeth Theresa Cirulli, Paul Brent Watkins, Robert John Fontana
BACKGROUND & AIMS: Minocycline hepatotoxicity can present with prominent autoimmune features in previously healthy individuals. The aim of this study was to identify genetic determinants of minocycline DILI in a well-phenotyped cohort of patients. METHODS: Caucasian patients with minocycline DILI underwent genome-wide genotyping and were compared to unexposed population controls. Human leukocyte antigen (HLA) binding of minocycline was assessed using AutoDock Vina...
March 17, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28321701/burden-of-disease-attributed-to-ambient-pm2-5-and-pm10-exposure-in-190-cities-in-china
#8
Kamal Jyoti Maji, Mohit Arora, Anil Kumar Dikshit
Particulate air pollution is becoming a serious public health concern in urban cities of China. Association of disability-adjusted life years (DALYs) and economic loss with air pollution-related health effects demand quantitative analysis for correctional measures in air quality. This study applies an epidemiology-based exposure-response function to obtain the quantitative estimate of health impact of particulate matter PM2.5 and PM10 across 190 cities of China during years 2014-2015. The annual average concentration of PM2...
March 20, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28319055/rational-design-of-high-yield-and-superior-quality-rice
#9
Dali Zeng, Zhixi Tian, Yuchun Rao, Guojun Dong, Yaolong Yang, Lichao Huang, Yujia Leng, Jie Xu, Chuan Sun, Guangheng Zhang, Jiang Hu, Li Zhu, Zhenyu Gao, Xingming Hu, Longbiao Guo, Guosheng Xiong, Yonghong Wang, Jiayang Li, Qian Qian
Rice (Oryza sativa L.) is a staple food for more than half of the world's population. To meet the ever-increasing demand for food, because of population growth and improved living standards, world rice production needs to double by 2030(1). The development of new elite rice varieties with high yield and superior quality is challenging for traditional breeding approaches, and new strategies need to be developed. Here, we report the successful development of new elite varieties by pyramiding major genes that significantly contribute to grain quality and yield from three parents over five years...
March 20, 2017: Nature Plants
https://www.readbyqxmd.com/read/28318855/disability-adjusted-life-years-lost-due-to-ischemic-heart-disease-in-mainland-portugal-2013
#10
Ana Henriques, Carla Araújo, Marta Viana, Olga Laszczynska, Marta Pereira, Kathleen Bennett, Nuno Lunet, Ana Azevedo
INTRODUCTION AND OBJECTIVES: Estimates of the burden of ischemic heart disease (IHD), including geographic differences, should support health policy decisions. We set out to estimate the burden of IHD in mainland Portugal in 2013 by calculating disability-adjusted life years (DALYs) and to compare this burden between five regions. METHODS: Years of life lost (YLLs) were calculated by multiplying the number of IHD deaths in 2013 (Statistics Portugal) by the life expectancy at the age at which death occurred...
March 16, 2017: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/28316092/elevation-of-gprc5a-expression-in-colorectal-cancer-promotes-tumor-progression-through-vnn-1-induced-oxidative-stress
#11
Long Zhang, Liang Li, Ganglong Gao, Gaigai Wei, Yansen Zheng, Chunmei Wang, Na Gao, Yongliang Zhao, Jiong Deng, Huaqing Chen, Jialiang Sun, Dali Li, Xueli Zhang, Mingyao Liu
The clearance of oxidative stress compounds is critical for the protection of the organism from malignancy, but how this key physiological process is regulated is not fully understood. Here we found that the expression of GPRC5A, a well-characterized tumor suppressor in lung cancer, was elevated in colorectal cancer tissues in patients. In both cancer cell lines and a colitis-associated cancer model in mice, we found that GPRC5A deficiency reduced cell proliferation and increased cell apoptosis as well as inhibited tumorigenesis in vivo...
March 17, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28304253/ventricular-parasystole-in-a-neonatal-rhesus-macaque-macaca-mulatta
#12
Dalis E Collins, Brandy L Dozier, Jeffrey J Stanton, Lois Ma Colgin, Rhonda MacAllister
A 6-d-old Indian-origin female rhesus macaque (Macaca mulatta) presented with bradycardia shortly after sedation with ketamine. No other cardiac abnormalities were apparent. Approximately 2 wk after the initial presentation, the macaque was again bradycardic and exhibited a regularly irregular arrhythmia on a prestudy examination. ECG, echocardiography, blood pressure measurement, SpO2 assessment, and a CBC analysis were performed. The echocardiogram and bloodwork were normal, but the infant was hypotensive at the time of echocardiogram...
December 1, 2016: Comparative Medicine
https://www.readbyqxmd.com/read/28300872/impacts-of-albumin-synergized-with-hydroxyethyl-starch-on-early-microvascular-albumin-leakage-after-major-abdominal-surgery-in-rabbits
#13
Weiming Li, Pengyuan Xu, Yunyun Cen, Dali Sun, Ting Yang, Qingwen Xu, Shumin Li, Yijun Li, Bo Ding
PURPOSE: To investigate the impacts of albumin synergized with hydroxyethyl starch (HES) on early microvascular albumin leakage after major abdominal surgery in rabbits. METHODS: Forty male Japanese rabbits were randomly divided into four groups: the control group, the saline group, the albumin group, and the Syn group (hydroxyethyl starch+albumin). The latter three groups were performed gastrectomy plus resection of pancreatic body and tail and splenectomy. The serum albumin concentration was detected before and 48h after surgery, and the conditions of mesenteric microvascular leakage in these 4 groups were observed under microscope 48 h after surgery to calculate the leakage rate...
February 2017: Acta Cirúrgica Brasileira
https://www.readbyqxmd.com/read/28300072/unravelling-the-hidden-link-of-lithium-halides-and-application-in-the-synthesis-of-organocuprates
#14
Hong Yi, Dali Yang, Jie Xin, Xiaotian Qi, Yu Lan, Yi Deng, Chih-Wen Pao, Jyh-Fu Lee, Aiwen Lei
As a versatile metal, copper has demonstrated a wide application in acting as both organometallic reagent and catalyst. Organocuprates are among the most used organometallic reagents in the formation of new carbon-carbon bonds in organic synthesis. Therefore, revealing the real structures of organocuprates in solution is crucial to provide insights into the reactivity of organocuprates. Here we provide several important insights into organocuprate chemistry. The main finding contains the following aspects. The Cu(0) particles were detected via the reduction of CuX by nBuLi or PhLi...
March 16, 2017: Nature Communications
https://www.readbyqxmd.com/read/28299942/temperature-dependent-electric-field-poling-effects-in-ch3nh3pbi3-optoelectronic-devices
#15
Chuang Zhang, Dali Sun, Xiaojie Liu, Chuanxiang Sheng, Zeev Valy Vardeny
Organo-lead halide perovskites show excellent optoelectronic properties; however, the unexpected inconsistency in forward/backward I-V characteristics remains a problem for fabricating solar panels. Here we have investigated the reasons behind this "hysteresis" by following the changes in photocurrent/photoluminescence under electric field poling in transverse CH3NH3PbI3-based devices from 300 K to 10 K. We found that the hysteresis disappears at cryogenic temperatures, indicating the "freeze-out" of ionic diffusion contribution...
March 16, 2017: Journal of Physical Chemistry Letters
https://www.readbyqxmd.com/read/28298068/gum-arabic-encapsulated-gold-nanoparticles-for-a-non-invasive-photothermal-ablation-of-lung-tumor-in-mice
#16
Amira M Gamal-Eldeen, Dina Moustafa, Sherien M El-Daly, Mona A M Abo-Zeid, Samira Saleh, Menka Khoobchandani, Kavita Katti, Ravi Shukla, Kattesh V Katti
BACKGROUND: In our previous work, we have extensively evaluated the physiochemical characteristics of Gum Arabic-encapsulated gold nanoparticles (GA-AuNPs; 15-18nm) and reported their effectiveness in stopping the tumor initiation via inhibiting the pre-neoplastic lesions in liver. OBJECTIVE: The rationale of this study is to detect the efficiency of using GA-AuNPs in photothermal application as a non-invasive technique against lung tumor. We investigated the cytotoxicity of GA-AuNPs on A549 cells, and then studied their apoptotic, anti-inflammatory, lipid peroxidation and anti-neovascular effect in in vivo model using a chemically-induced lung cancer in mice...
March 11, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28297132/vitamin-d-bones-and-muscle-myth-versus-reality
#17
REVIEW
Gustavo Duque, Robin M Daly, Kerrie Sanders, Douglas P Kiel
OBJECTIVES: Evidence regarding the efficacy and dosing of vitamin D on fall and fracture prevention, with or without calcium, is characterised by uncertainty. METHODS: A panel of experts was organised at the First Australasian Conference on Sarcopenia and Frailty in Melbourne, Australia, in November 2016 to provide an interpretation of the current evidence and to give their opinions regarding the supplementation of vitamin D in three hypothetical cases. RESULTS AND CONCLUSION: The authors conclude that (i) target serum 25(OH)D concentration should be 50 to 60 nmol/L year round, with a conservative upper limit <100 nmol/L; (ii) change in serum concentrations at any given dose is highly variable among individuals; (iii) dosing interval may need to be <2 months to have a continuous benefit; (iv) a loading dose can raise levels to target quickly, but there is no evidence yet that this has any positive effect on falls or fracture outcomes; and (v) a maintenance dose of 1000 IU/day, or given as an equivalent dose weekly or monthly, is sufficient for most individuals...
March 2017: Australasian Journal on Ageing
https://www.readbyqxmd.com/read/28296655/endoscopic-fundoplication-effectiveness-for-controlling-symptoms-of-gastroesophageal-reflux-disease
#18
Michael I Ebright, Praveen Sridhar, Virginia R Litle, Chaitan K Narsule, Benedict D Daly, Hiran C Fernando
OBJECTIVE: Transoral incisionless fundoplication (TIF) is a completely endoscopic approach to treat gastroesophageal reflux disease (GERD). We previously reported our initial results demonstrating safety and early effectiveness. We now present an updated experience describing outcomes with longer follow-up. METHODS: For a three-year period, TIF procedures were performed on 80 patients. Preoperative workup routinely consisted of contrast esophagram and manometry...
March 14, 2017: Innovations: Technology and Techniques in Cardiothoracic and Vascular Surgery
https://www.readbyqxmd.com/read/28296152/flexible-and-powerful-strategy-for-qualitative-and-quantitative-analysis-of-valepotriates-in-valeriana-jatamansi-jones-using-hplc-with-linear-ion-trap-orbitrap-mass-spectrometry
#19
Chunguo Wang, Zhiquan Zheng, Xinqi Deng, Xiaojie Ma, Shengnan Wang, Jie Liu, Yong Liu, Jinli Shi
Valeriana jatamansi Jones is an important medicinal plant and its quality is closely related to its region of origin. In the current study, we utilized a flexible and powerful strategy for comprehensive evaluation of the quality diversity for 15 regions in China. The method was based on a hybrid linear ion trap-Orbitrap mass spectrometry platform. For structure characterization, fragmentation patterns were detected by analyzing a series of standard compounds using data dependent multistage mass spectrometry acquisition...
March 10, 2017: Journal of Separation Science
https://www.readbyqxmd.com/read/28295373/building-a-better-foundation-improving-root-trait-measurements-to-understand-and-model-plant-and-ecosystem-processes
#20
M Luke McCormack, Dali Guo, Colleen M Iversen, Weile Chen, David M Eissenstat, Christopher W Fernandez, Le Li, Chengen Ma, Zeqing Ma, Hendrik Poorter, Peter B Reich, Marcin Zadworny, Amy Zanne
Trait-based approaches provide a useful framework to investigate plant strategies for resource acquisition, growth, and competition, as well as plant impacts on ecosystem processes. Despite significant progress capturing trait variation within and among stems and leaves, identification of trait syndromes within fine-root systems and between fine roots and other plant organs is limited. Here we discuss three underappreciated areas where focused measurements of fine-root traits can make significant contributions to ecosystem science...
March 13, 2017: New Phytologist
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