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https://www.readbyqxmd.com/read/28645531/new-protein-structures-provide-an-updated-understanding-of-phenylketonuria
#1
REVIEW
Eileen K Jaffe
Phenylketonuria (PKU) and less severe hyperphenylalaninemia (HPA) constitute the most common inborn error of amino acid metabolism, and is most often caused by defects in phenylalanine hydroxylase (PAH) function resulting in accumulation of Phe to neurotoxic levels. Despite the success of dietary intervention in preventing permanent neurological damage, individuals living with PKU clamor for additional non-dietary therapies. The bulk of disease-associated mutations are PAH missense variants, which occur throughout the entire 452 amino acid human PAH protein...
June 15, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28645376/proteomic-analyses-of-the-eukaryotic-replication-machinery
#2
David Cortez
DNA replication in a human cell involves hundreds of proteins that copy the DNA accurately and completely each cell division cycle. In addition to the core DNA copying machine (the replisome), accessory proteins work to respond to replication stress, correct errors, and repackage the DNA into appropriate chromatin structures. New proteomic tools have been invented in the past few years to facilitate the purification, identification, and quantification of the replication, chromatin maturation, and replication stress response machineries...
2017: Methods in Enzymology
https://www.readbyqxmd.com/read/28644905/a-realistic-phantom-for-validating-mri-based-synthetic-ct-images-of-the-human-skull
#3
Abraam S Soliman, Levi Burns, Amir Owrangi, Young Lee, William Y Song, Greg Stanisz, Brige P Chugh
PURPOSE: To introduce a new realistic human skull phantom for the validation of synthetic CT images of cortical bone from ultra-short echo-time (UTE) sequences. METHODS AND MATERIALS: A human skull of an adult female was utilized as a realistic representation of skull cortical bone. The skull was stabilized in a special acrylic container and was filled with contrast agents that have T1 and T2 relaxation times similar to human brain. The phantom was MR scanned at 3T with UTE and T2 -weighted sequences, followed by CT...
June 23, 2017: Medical Physics
https://www.readbyqxmd.com/read/28643113/-safety-culture-in-orthopedics-and-trauma-surgery-course-concept-interpersonal-competence-by-the-german-society-for-orthopaedics-and-trauma-dgou-and-lufthansa-aviation-training
#4
REVIEW
A-K Doepfer, R Seemann, D Merschin, R Stange, M Egerth, M Münzberg, M Mutschler, B Bouillon, R Hoffmann
Patient safety has become a central and measurable key factor in the routine daily medical practice. The human factor plays a decisive role in safety culture and has moved into focus regarding the reduction of treatment errors and undesired critical incidents. Nonetheless, the systematic training in communication and interpersonal competences has so far only played a minor role. The German Society of Orthopaedics and Trauma (DGOU) in cooperation with the Lufthansa Aviation Training initiated a course system for interpersonal competence...
June 22, 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28642169/a-novel-method-to-quantify-base-substitution-mutations-at-the-10-6-per-bp-level-in-dna-samples
#5
Satoshi Yamashita, Naoko Iida, Hideyuki Takeshima, Naoko Hattori, Maeda Masahiro, Takayoshi Kishino, Reiko Nagano, Taichi Shimazu, Shoichiro Tsugane, Toshikazu Ushijima
Somatic base substitution mutations of frequencies at the 10(-6)/bp level are expected to be present in many biomedical samples, such as tissues exposed to carcinogenic factors and exhausted stem cells. However, measurement of such rare mutations has been very difficult in human DNA samples. Here, we invented the use of 100 copies of genomic DNA as a template for amplicon deep sequencing so that a real mutation in a single DNA molecule would be detected at a variant allele frequency of 1% while sequencing errors have less frequency...
June 19, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28642027/-monitoring-devices-and-their-alarms-incident-reports-suggest-problems-with-device-knowledge
#6
Kathrin Lange, Miriam Nowak, Claudia Neudörfl, Wolfgang Lauer
Missing or false device alarms pose a risk in clinical practice. Publications from the United States suggest that alarm errors are not only caused by technical issues but to a considerable degree result from user-device interaction problems. To safely operate a medical device, users have to thoroughly understand both device behavior and device functioning. They also need to foresee the exact consequences of their interactions with the device. This can be challenging, especially if a device has multiple functions, is applied in various use contexts or networked with other devices - as is often the case with patient monitors...
June 19, 2017: Zeitschrift Für Evidenz, Fortbildung und Qualität Im Gesundheitswesen
https://www.readbyqxmd.com/read/28641925/safety-pharmacokinetics-and-sialic-acid-production-after-oral-administration-of-n-acetylmannosamine-mannac-to-subjects-with-gne-myopathy
#7
Xin Xu, Amy Q Wang, Lea L Latham, Frank Celeste, Carla Ciccone, May Christine Malicdan, Barry Goldspiel, Pramod Terse, James Cradock, Nora Yang, Selwyn Yorke, John C McKew, William A Gahl, Marjan Huizing, Nuria Carrillo
GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle glycoproteins likely contributes to the pathophysiology of this disease. N-acetyl-D-mannosamine (ManNAc), an uncharged monosaccharide and the first committed precursor in the sialic acid biosynthetic pathway, is a therapeutic candidate that prevents muscle weakness in the mouse model of GNE myopathy...
April 26, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28641666/-rare-blood-group-and-its-progress-of-research-in-transfusion-medicine-review
#8
Qing-Sheng Cao, Tao Yang, Ming-Hui Wang
As one of key factors for transfusion reaction, rare blood group has attached lots of attention for a long time. The proportion of the people population with rare blood group is actually low, however, the improper disposition caused by human error always leads to severe medical accident, showing its undoubted importance in transfusion medicine. Recently, more research about rare blood group are reported. Therefore, this review summarizes the development of this aspect, including mainly rare blood group, the detection of blood group phenotype, and the way of transfusion for rare blood group...
June 2017: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/28641496/guanfacine-attenuates-adverse-effects-of-dronabinol-thc-on-working-memory-in-adolescent-onset-heavy-cannabis-users-a-pilot-study
#9
David S Mathai, Manuela Holst, Christopher Rodgman, Colin N Haile, Jake Keller, Mariyah Z Hussain, Thomas R Kosten, Thomas F Newton, Christopher D Verrico
The cannabinoid-1 receptor (CB1R) agonist Δ9-tetrahydrocannabinol (THC), the main psychoactive constituent of cannabis, adversely effects working memory performance in humans. The α2A-adrenoceptor (AR) agonist guanfacine improves working memory performance in humans. The authors aimed to determine the effects of short-term (6 days) treatment with guanfacine on adverse cognitive effects produced by THC. Employing a double-blind, placebo-controlled crossover design, the cognitive, subjective, and cardiovascular effects produced by oral THC (20 mg) administration were determined twice in the same cannabis users: once after treatment with placebo and once after treatment with guanfacine (3 mg/day)...
June 23, 2017: Journal of Neuropsychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/28641461/the-impact-of-data-errors-on-the-outcome-of-randomized-clinical-trials
#10
Marc Buyse, Pierre Squifflet, Elisabeth Coart, Emmanuel Quinaux, Cornelis Ja Punt, Everardo D Saad
Background/aims Considerable human and financial resources are typically spent to ensure that data collected for clinical trials are free from errors. We investigated the impact of random and systematic errors on the outcome of randomized clinical trials. Methods We used individual patient data relating to response endpoints of interest in two published randomized clinical trials, one in ophthalmology and one in oncology. These randomized clinical trials enrolled 1186 patients with age-related macular degeneration and 736 patients with metastatic colorectal cancer...
June 1, 2017: Clinical Trials: Journal of the Society for Clinical Trials
https://www.readbyqxmd.com/read/28641248/method-for-simulating-dose-reduction-in-digital-breast-tomosynthesis
#11
Lucas R Borges, Igor Guerrero, Predrag R Bakic, Alessandro Foi, Andrew D A Maidment, Marcelo A C Vieira
This work proposes a new method of simulating dose reduction in digital breast tomosynthesis (DBT), starting from a clinical image acquired with a standard radiation dose. It considers both signal-dependent quantum and signal-independent electronic noise. Furthermore, the method accounts for pixel crosstalk, which causes the noise to be frequency-dependent, thus increasing the simulation accuracy. For an objective assessment, simulated and real images were compared in terms of noise standard deviation, signal-to-noise ratio (SNR) and normalized noise power spectrum (NNPS)...
June 15, 2017: IEEE Transactions on Medical Imaging
https://www.readbyqxmd.com/read/28637631/validity-of-a-digital-diet-estimation-method-for-use-with-preschool-children
#12
Theresa Nicklas, Noemi G Islam, Rabab Saab, Rebecca Schulin, Yan Liu, Nancy F Butte, John W Apolzan, Candice A Myers, Corby K Martin
BACKGROUND: The validity of using the Remote Food Photography Method (RFPM) for measuring food intake of minority preschool children's intake is not well documented. OBJECTIVE: Our aim was to determine the validity of intake estimations made by human raters using the RFPM compared with those obtained by weighing all foods and beverages consumed by 3- to 5-year-old children (weighed method). DESIGN: We conducted a cross-sectional observational study...
June 18, 2017: Journal of the Academy of Nutrition and Dietetics
https://www.readbyqxmd.com/read/28636931/p53-prohibits-propagation-of-chromosome-segregation-errors-that-produce-structural-aneuploidies
#13
Mar Soto, Jonne A Raaijmakers, Bjorn Bakker, Diana C J Spierings, Peter M Lansdorp, Floris Foijer, René H Medema
The presence of an abnormal karyotype has been shown to be profoundly detrimental at the cellular and organismal levels but is an overt hallmark of cancer. Aneuploidy can lead to p53 activation and thereby prevents proliferation, but the exact trigger for p53 activation has remained controversial. Here, we have used a system to induce aneuploidy in untransformed human cells to explore how cells deal with different segregation errors. We show that p53 is activated only in a subset of the cells with altered chromosome content...
June 20, 2017: Cell Reports
https://www.readbyqxmd.com/read/28636482/impact-of-freeway-weaving-segment-design-on-light-duty-vehicle-exhaust-emissions
#14
Qing Li, Fengxiang Qiao, Lei Yu, Shuyan Chen, Tiezhu Li
In United States, 26% of greenhouse gas emissions is emitted from the transportation sector, which meanwhile accompanies with enormous toxic emissions to humans, such as CO, NOx, and HC, approximately 2.5% and 2.44% of a total exhaust emission for a petrol and diesel engine, respectively. These exhaust emissions are typically subject to vehicles' intermittent operations, such as hard acceleration and hard braking. In practice, drivers are inclined to operate intermittently while driving through a weaving segment, due to complex vehicle maneuvering for weaving...
June 21, 2017: Journal of the Air & Waste Management Association
https://www.readbyqxmd.com/read/28634583/circular-rnas-biogenesis-function-and-role-in-human-diseases
#15
REVIEW
John Greene, Anne-Marie Baird, Lauren Brady, Marvin Lim, Steven G Gray, Raymond McDermott, Stephen P Finn
Circular RNAs (circRNAs) are currently classed as non-coding RNA (ncRNA) that, unlike linear RNAs, form covalently closed continuous loops and act as gene regulators in mammals. They were originally thought to represent errors in splicing and considered to be of low abundance, however, there is now an increased appreciation of their important function in gene regulation. circRNAs are differentially generated by backsplicing of exons or from lariat introns. Unlike linear RNA, the 3' and 5' ends normally present in an RNA molecule have been joined together by covalent bonds leading to circularization...
2017: Frontiers in Molecular Biosciences
https://www.readbyqxmd.com/read/28633732/to-err-is-human-can-american-medicine-learn-from-past-mistakes
#16
Jeffrey B Ritterman
The history of medicine includes many errors. Some persisted for decades and caused great harm. Several are highlighted in this article, including the mythical thymic diseases: thymic asthma and status thymicolymphaticus. Some medical mistakes, such as the diet-heart hypothesis of Ancel Keys, continue to cause harm. To avoid future errors and their associated harm, I suggest a cultural shift encouraging professional humility and greater questioning of medical dogma. Medical education focused on teaching students this history may help with this cultural shift...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28633363/development-initial-testing-and-challenges-of-an-ecologically-valid-reward-prediction-error-fmri-task-for-alcoholism
#17
Anita Cservenka, Kelly E Courtney, Dara G Ghahremani, Kent E Hutchison, Lara A Ray
Aims: To advance translational studies of the role of reward prediction error (PE) in alcohol use disorder, the present study sought to develop and conduct an initial test of an alcohol-specific PE task paradigm using functional magnetic resonance imaging in humans. Methods: Alcohol dependent or social drinkers received small tastes of their preferred alcohol beverage or control beverage, with preceding visual cues indicating whether alcohol (or water) would be delivered...
June 14, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28631885/reliability-and-validity-of-fluorecam-for-white-spot-lesion-detection-an-in-vitro-study
#18
Moufida Abufarwa, Amal Noureldin, Phillip M Campbell, Peter H Buschang
AIM: In the present study, we tested the reliability and validity of a new light fluorescence device, the FluoreCam. METHODS: Twenty-five human teeth were sectioned mesiodistally into halves. Group 1 (n=30) included specimens with either sound enamel or natural white-spot lesions (WSL). Group 2 (n=20) included specimens with sound enamel used to create artificial WSL. Using the FluoreCam, baseline scans of enamel surfaces were obtained under standardized conditions...
June 20, 2017: Journal of Investigative and Clinical Dentistry
https://www.readbyqxmd.com/read/28631734/learning-relative-values-in-the-striatum-induces-violations-of-normative-decision-making
#19
Tilmann A Klein, Markus Ullsperger, Gerhard Jocham
To decide optimally between available options, organisms need to learn the values associated with these options. Reinforcement learning models offer a powerful explanation of how these values are learnt from experience. However, human choices often violate normative principles. We suggest that seemingly counterintuitive decisions may arise as a natural consequence of the learning mechanisms deployed by humans. Here, using fMRI and a novel behavioural task, we show that, when suddenly switched to novel choice contexts, participants' choices are incongruent with values learnt by standard learning algorithms...
June 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28630878/prediction-of-brain-tissue-temperature-using-near-infrared-spectroscopy
#20
Lisa Holper, Subhabrata Mitra, Gemma Bale, Nicola Robertson, Ilias Tachtsidis
Broadband near-infrared spectroscopy (NIRS) can provide an endogenous indicator of tissue temperature based on the temperature dependence of the water absorption spectrum. We describe a first evaluation of the calibration and prediction of brain tissue temperature obtained during hypothermia in newborn piglets (animal dataset) and rewarming in newborn infants (human dataset) based on measured body (rectal) temperature. The calibration using partial least squares regression proved to be a reliable method to predict brain tissue temperature with respect to core body temperature in the wavelength interval of 720 to 880 nm with a strong mean predictive power of [Formula: see text] (animal dataset) and [Formula: see text] (human dataset)...
April 2017: Neurophotonics
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