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https://www.readbyqxmd.com/read/28340292/combined-spiroergometry-and-31-p-mrs-of-human-calf-muscle-during-high-intensity-exercise
#1
K Moll, A Gussew, C Hein, N Stutzig, J R Reichenbach
Simultaneous measurements of pulmonary oxygen consumption (VO2 ), carbon dioxide exhalation (VCO2 ) and phosphorus magnetic resonance spectroscopy ((31) P-MRS) are valuable in physiological studies to evaluate muscle metabolism during specific loads. Therefore, the aim of this study was to adapt a commercially available spirometric device to enable measurements of VO2 and VCO2 whilst simultaneously performing (31) P-MRS at 3 T. Volunteers performed intense plantar flexion of their right calf muscle inside the MR scanner against a pneumatic MR-compatible pedal ergometer...
March 24, 2017: NMR in Biomedicine
https://www.readbyqxmd.com/read/28340145/human-abuse-potential-of-the-new-opioid-analgesic-molecule-nktr-181-compared-with-oxycodone
#2
Lynn Webster, Jack Henningfield, August R Buchhalter, Suresh Siddhanti, Lin Lu, Aleksandrs Odinecs, Carlo J Di Fonzo, Michael A Eldon
Objective.:  Evaluate the human abuse potential, pharmacokinetics, pharmacodynamics, and safety of NKTR-181, a novel mu-opioid agonist molecule, relative to oxycodone. Design.:  This randomized, single-center, double-blind, active- and placebo-controlled five-period crossover study enrolled healthy, adult, non-physically dependent recreational opioid users. Setting.:  Inpatient clinical research site. Subjects. : Forty-two randomized subjects (73...
March 10, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28335910/management-strategies-for-cln2-disease
#3
REVIEW
Ruth E Williams, Heather R Adams, Martin Blohm, Jessica L Cohen-Pfeffer, Emily de Los Reyes, Jonas Denecke, Kristen Drago, Charlie Fairhurst, Margie Frazier, Norberto Guelbert, Szilárd Kiss, Annamaria Kofler, John A Lawson, Lenora Lehwald, Mary-Anne Leung, Svetlana Mikhaylova, Jonathan W Mink, Miriam Nickel, Renée Shediac, Katherine Sims, Nicola Specchio, Meral Topcu, Ina von Löbbecke, Andrea West, Boris Zernikow, Angela Schulz
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by language delay, seizures, rapid cognitive and motor decline, blindness, and early death. No management guidelines exist and there is a paucity of published disease-specific evidence to inform clinical practice, which currently draws upon experience from the field of childhood neurodisability...
April 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28334956/prune-is-crucial-for-normal-brain-development-and-mutated-in-microcephaly-with-neurodevelopmental-impairment
#4
Massimo Zollo, Mustafa Ahmed, Veronica Ferrucci, Vincenzo Salpietro, Fatemeh Asadzadeh, Marianeve Carotenuto, Reza Maroofian, Ahmed Al-Amri, Royana Singh, Iolanda Scognamiglio, Majid Mojarrad, Luca Musella, Angela Duilio, Angela Di Somma, Ender Karaca, Anna Rajab, Aisha Al-Khayat, Tribhuvan Mohan Mohapatra, Atieh Eslahi, Farah Ashrafzadeh, Lettie E Rawlins, Rajniti Prasad, Rashmi Gupta, Preeti Kumari, Mona Srivastava, Flora Cozzolino, Sunil Kumar Rai, Maria Monti, Gaurav V Harlalka, Michael A Simpson, Philip Rich, Fatema Al-Salmi, Michael A Patton, Barry A Chioza, Stephanie Efthymiou, Francesca Granata, Gabriella Di Rosa, Sarah Wiethoff, Eugenia Borgione, Carmela Scuderi, Kshitij Mankad, Michael G Hanna, Piero Pucci, Henry Houlden, James R Lupski, Andrew H Crosby, Emma L Baple
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE...
February 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#5
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334161/elevated-co2-and-warming-effects-on-grassland-plant-mortality-are-determined-by-the-timing-of-rainfall
#6
Mark J Hovenden, Paul C D Newton, Meagan Porter
Background and aims: Global warming is expected to increase the mortality rate of established plants in water-limited systems because of its effect on evapotranspiration. The rising CO 2 concentration ([CO 2 ]), however, should have the opposite effect because it reduces plant transpiration, delaying the onset of drought. This potential for elevated [CO 2 ] (eCO 2 ) to modify the warming effect on mortality should be related to prevailing moisture conditions. This study aimed to determine the impacts of warming by 2 °C and eCO 2 (550 μmol mol -1 ) on plant mortality in an Australian temperate grassland over a 6-year period and to test how interannual variation in rainfall influenced treatment effects...
February 28, 2017: Annals of Botany
https://www.readbyqxmd.com/read/28332767/bcap31-associated-encephalopathy-and-complex-movement-disorder-mimicking-mitochondrial-encephalopathy
#7
Saleh Albanyan, Amal Al Teneiji, Nasim Monfared, Saadet Mercimek-Mahmutoglu
BCAP31, encoded by BCAP31, is involved in the export of transmembrane proteins from the endoplasmic reticulum. Pathogenic variants in BCAP31 results in global developmental delay, dystonia, deafness and dysmorphic features in males, called deafness, dystonia, and cerebral hypomyelination (DDCH) syndrome. We report a new patient with BCAP3-associated encephalopathy, DDCH syndrome, sensorineural hearing loss, generalized dystonia, and choreoathetosis. This 3.5-year-old boy had microcephaly and failure to thrive within the first 3 months of life...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28332073/aicardi-gouti%C3%A3-res-syndrome-unusual-neuro-radiological-manifestations
#8
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Shaimaa A Mohammad, Sherif F Abdel-Ghafar, Doaa R Soliman, Hala T El-Bassyouni, Laila Effat, Maha S Zaki
Aicardi-Goutières syndrome (AGS) is one of the expanding group of inherited congenital infection like syndromes. Here, we describe the detailed clinical and imaging findings of two sibs with AGS. Each shows scattered periventricular intracranial calcifications, severe global delay, seizures, microcephaly and spasticity. Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle. The brain MRI of the older sister showed marked ventricular dilatation as a result of unusual associated porencephalic cysts...
March 23, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#9
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/28328122/a-novel-patient-with-an-attenuated-costello-syndrome-phenotype-due-to-an-hras-mutation-affecting-codon-146-literature-review-and-update
#10
Annie Ting Gee Chiu, Gordon Ka-Chun Leung, Yoyo Wing-Yiu Chu, Karen W Gripp, Brian Hon-Yin Chung
De novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in <1% of patients with Costello syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326907/skin-sensitizers-in-cosmetics-and-beyond-potential-multiple-mechanisms-of-action-and-importance-of-t-cell-assays-for-in-vitro-screening
#11
Stanislav Vukmanović, Nakissa Sadrieh
Allergic contact dermatitis (ACD) is a delayed-type hypersensitivity (DTH) reaction induced by repeated contact with sensitizers. The ability of a chemical to act as a sensitizer has most frequently been tested in animals. As the use of animals for these purposes is gradually and globally being phased out, there is a need for reliable in vitro surrogate assays. Currently proposed in vitro assays are designed to test four key events of the adverse outcome pathway (AOP) involving covalent modification of self-proteins by sensitizers (haptenation) and presentation of new antigens (hapten/carrier complexes) to the immune system...
March 22, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/28325543/consensus-recommendations-on-exploring-effective-solutions-for-the-rising-cost-of-diabetes
#12
REVIEW
Shaukat M Sadikot, Ashok Kumar Das, John Wilding, Ali Siyan, Abdul Hamid Zargar, Banshi Saboo, S R Aravind, Bhavana Sosale, Sanjay Kalra, G Vijayakumar, K K Manojan, Anuj Maheshwari, Jayant K Panda, Samar Banerjee, Rajeev Chawla, Sambu Potty Vasudevan, O S Syam Sundar, Jothydev Kesavadev
Diabetes remains asymptomatic for a long period of time and its real burden gets noticed only once the complications set in. The number of individuals affected with the disease is also on the rise and more so in the low income countries. This scenario calls for urgent precautionary measures that need to be undertaken to equip ourselves to fight against this chronic disease. Individuals with financial constraints cannot afford to access even the basic treatment facilities and thus stands the most burdened. The International Diabetes Federation calls for 'Eyes on Diabetes' for the society to focus on early screening and early intervention...
March 7, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28324759/stability-and-instability-of-a-neuron-network-with-excitatory-and-inhibitory-small-world-connections
#13
Dongyuan Yu, Xu Xu, Jing Zhou, Eric Li
This study considers a delayed neural network with excitatory and inhibitory shortcuts. The global stability of the trivial equilibrium is investigated based on Lyapunov's direct method and the delay-dependent criteria are obtained. It is shown that both the excitatory and inhibitory shortcuts decrease the stability interval, but a time delay can be employed as a global stabilizer. In addition, we analyze the bounds of the eigenvalues of the adjacent matrix using matrix perturbation theory and then obtain the generalized sufficient conditions for local stability...
March 2, 2017: Neural Networks: the Official Journal of the International Neural Network Society
https://www.readbyqxmd.com/read/28323835/molecular-epidemiology-of-cryptococcal-genotype-vnic-st5-in-siriraj-hospital-thailand
#14
Chanin Hatthakaroon, Sujiraphong Pharkjaksu, Piriyaporn Chongtrakool, Kamol Suwannakarn, Pattarachai Kiratisin, Popchai Ngamskulrungroj
Despite the strong association between Cryptococcus neoformans infection and the Human immunodeficiency virus (HIV) status of patients globally, most cryptococcosis cases in Far East Asia occur in non-HIV individuals. Molecular epidemiological studies, using multilocus sequence typing (MLST), have shown that more than 95% of cryptococcal strains belong to a specific subtype of VNI. However, this association has never been specifically examined in other parts of Asia. Therefore, in this study, we investigated the VNIc/ST5 genotype distribution among cryptococcosis patients in Thailand...
2017: PloS One
https://www.readbyqxmd.com/read/28323747/supporting-a-youth-with-cerebellar-ataxia-into-adolescence
#15
Veronica Meneses, Zurisadai Gonzalez-Castillo, Veronica B Edgar, Marilyn Augustyn
Zoe, a 13-year-old white girl, presents as a new patient to your pediatric clinic with complaints of frequent emesis, anxiety, and learning problems, and previous diagnosis of cerebellar ataxia. Parents accompany Zoe and state, "it is really hard for her to go out, she gets sick and falls easily." She was born full term by vaginal delivery without complications. Given globally delayed milestones, she received early intervention services. Feeding problems began at infancy, including gastroesophageal reflux and aspiration pneumonia...
March 17, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28323681/predictors-that-a-diagnosis-of-mild-cognitive-impairment-will-remain-stable-3-years-later
#16
Matthew A Clem, Ryan P Holliday, Seema Pandya, Linda S Hynan, Laura H Lacritz, Fu L Woon
BACKGROUND AND OBJECTIVE: In half to two thirds of patients who are diagnosed with mild cognitive impairment (MCI), the diagnosis neither converts to dementia nor reverts to normal cognition; however, little is known about predictors of MCI stability. Our study aimed to identify those predictors. METHODS: We obtained 3-year longitudinal data from the National Alzheimer's Coordinating Center Uniform Data Set for patients with a baseline diagnosis of MCI. To predict MCI stability, we used the patients' baseline data to conduct three logistic regression models: demographics, global function, and neuropsychological performance...
March 2017: Cognitive and Behavioral Neurology: Official Journal of the Society for Behavioral and Cognitive Neurology
https://www.readbyqxmd.com/read/28322265/prevalence-of-early-initiation-of-breastfeeding-and-determinants-of-delayed-initiation-of-breastfeeding-secondary-analysis-of-the-who-global-survey
#17
Kenzo Takahashi, Togoobaatar Ganchimeg, Erika Ota, Joshua P Vogel, João Paulo Souza, Malinee Laopaiboon, Cynthia Pileggi Castro, Kapila Jayaratne, Eduardo Ortiz-Panozo, Pisake Lumbiganon, Rintaro Mori
Early initiation of breastfeeding (EIBF) within 1 hour of birth can decrease neonatal death. However, the prevalence of EIBF is approximately 50% in many developing countries, and data remains unavailable for some countries. We conducted a secondary analysis using the WHO Global Survey on Maternal and Perinatal Health to identify factors hampering EIBF. We described the coverage of EIBF among 373 health facilities for singleton neonates for whom breastfeeding was initiated after birth. Maternal and facility characteristics of EIBF were compared to those of breastfeeding >1 hour after birth, and multiple logistic regression analysis was performed...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28321681/machine-learning-of-the-spatio-temporal-characteristics-of-echocardiographic-deformation-curves-for-infarct-classification
#18
Mahdi Tabassian, Martino Alessandrini, Lieven Herbots, Oana Mirea, Efstathios D Pagourelias, Ruta Jasaityte, Jan Engvall, Luca De Marchi, Guido Masetti, Jan D'hooge
The aim of this study was to analyze the whole temporal profiles of the segmental deformation curves of the left ventricle (LV) and describe their interrelations to obtain more detailed information concerning global LV function in order to be able to identify abnormal changes in LV mechanics. The temporal characteristics of the segmental LV deformation curves were compactly described using an efficient decomposition into major patterns of variation through a statistical method, called Principal Component Analysis (PCA)...
March 20, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28320505/fine-tuning-of-gene-expression-dynamics-by-the-set2-rpd3s-pathway
#19
Bo Bae Lee, Ji Hyun Kim, TaeSoo Kim
RNA polymerase II-interacting the Set2 methyltransferase co-transcriptionally methylates histone H3 at lysine 36 within the body of genes. This modification facilitates histone deacetylation by Rpd3S HDAC in 3' transcribed regions to suppress cryptic initiation and slow elongation. Although this pathway is important for global deacetylation, no strong effects on genome-wide transcription have been seen under optimized laboratory conditions. In contrast, this pathway slows the kinetics of mRNA induction when target genes are induced upon environmental changes...
March 21, 2017: BMB Reports
https://www.readbyqxmd.com/read/28319122/can-a-simulation-based-training-program-impact-the-use-of-evidence-based-routine-practices-at-birth-results-of-a-hospital-based-cluster-randomized-trial-in-mexico
#20
Jimena Fritz, Dilys M Walker, Susanna Cohen, Gustavo Angeles, Hector Lamadrid-Figueroa
BACKGROUND: In Mexico, although the majority of births are attended in hospitals, reports have emerged of obstetric violence, use of unsafe practices, and failure to employ evidence-based practices (EBP). Recent attention has refocused global efforts towards provision of quality care that is both patient-centered and evidence-based. Scaling up of local interventions should rely on strong evidence of effectiveness. OBJECTIVE: To perform a secondary analysis to evaluate the impact of a simulation and team-training program (PRONTO) on the performance of EBP in normal births...
2017: PloS One
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