keyword
MENU ▼
Read by QxMD icon Read
search

Pws

keyword
https://www.readbyqxmd.com/read/28078665/computerized-pharmacy-surveillance-and-alert-system-for-drug-related-problems
#1
O Ferrández, O Urbina, S Grau, J Mateu-de-Antonio, M Marin-Casino, J Portabella, S Mojal, M Riu, E Salas
WHAT IS KNOWN AND OBJECTIVE: Because of the impact of drug-related problems (DRPs) on morbidity and mortality, there is a need for computerized strategies to increase drug safety. The detection and identification of the causes of potential DRPs can be facilitated by the incorporation of a pharmacy warning system (PWS) in the computerized prescriber order entry (CPOE) and its application in the routine validation of inpatient drug therapy. A limited number of studies have evaluated a clinical decision support system to monitor drug treatment...
January 12, 2017: Journal of Clinical Pharmacy and Therapeutics
https://www.readbyqxmd.com/read/28068768/proton-wire-dynamics-in-the-green-fluorescent-protein
#2
Ai Shinobu, Noam Agmon
Inside proteins, protons move on proton wires (PWs). Starting from the highest resolution X-ray structure available, we conduct a 306 ns molecular dynamics simulation of the (A-state) wild-type (wt) green fluorescent protein (GFP) to study how its PWs change with time. We find that the PW from the chromophore via Ser205 to Glu222, observed in all X-ray structures, undergoes rapid water molecule insertion between Ser205 and Glu222. Sometimes, an alternate Ser205-bypassing PW exists. Side chain rotations of Thr203 and Ser205 play an important role in shaping the PW network in the chromophore region...
January 10, 2017: Journal of Chemical Theory and Computation
https://www.readbyqxmd.com/read/28030367/activation-of-pkc%C3%AE-and-pi3k-kinases-in-hypertrophic-and-nodular-port-wine-stain-lesions
#3
Rong Yin, Lin Gao, Wenbin Tan, Wei Guo, Tao Zhao, Jhon Stuart Nelson, Gang Wang
Port wine stain (PWS) is a congenital, progressive vascular malformation. Many patients with PWS develop hypertrophy and discrete nodularity during their adult life, but the mechanism(s) remain incompletely understood. In this study, we attempted to investigate activation status of PKCα, PI3K, PDPK1 and PLC-γ and protein levels of PP2A and DAG to explore their potential roles in the formation of hypertrophic and nodular PWS lesions. We found phosphorylated levels of PKCα, PI3K, PDPK1, and PLC-γ and protein levels of PP2A and DAG showed moderate increases in the endothelial cells of hypertrophic PWS as compared to the adjacent normal skin...
December 20, 2016: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28024084/targeting-the-histone-methyltransferase-g9a-activates-imprinted-genes-and-improves-survival-of-a-mouse-model-of-prader-willi-syndrome
#4
Yuna Kim, Hyeong-Min Lee, Yan Xiong, Noah Sciaky, Samuel W Hulbert, Xinyu Cao, Jeffrey I Everitt, Jian Jin, Bryan L Roth, Yong-Hui Jiang
Prader-Willi syndrome (PWS) is an imprinting disorder caused by a deficiency of paternally expressed gene(s) in the 15q11-q13 chromosomal region. The regulation of imprinted gene expression in this region is coordinated by an imprinting center (PWS-IC). In individuals with PWS, genes responsible for PWS on the maternal chromosome are present, but repressed epigenetically, which provides an opportunity for the use of epigenetic therapy to restore expression from the maternal copies of PWS-associated genes. Through a high-content screen (HCS) of >9,000 small molecules, we discovered that UNC0638 and UNC0642-two selective inhibitors of euchromatic histone lysine N-methyltransferase-2 (EHMT2, also known as G9a)-activated the maternal (m) copy of candidate genes underlying PWS, including the SnoRNA cluster SNORD116, in cells from humans with PWS and also from a mouse model of PWS carrying a paternal (p) deletion from small nuclear ribonucleoprotein N (Snrpn (S)) to ubiquitin protein ligase E3A (Ube3a (U)) (mouse model referred to hereafter as m(+)/p(ΔS-U))...
December 26, 2016: Nature Medicine
https://www.readbyqxmd.com/read/28009282/beyond-epilepsy-and-autism-disruption-of-gabrb3-causes-ocular-hypopigmentation
#5
Ryan J Delahanty, Yanfeng Zhang, Terry Jo Bichell, Wangzhen Shen, Kelienne Verdier, Robert L Macdonald, Lili Xu, Kelli Boyd, Janice Williams, Jing-Qiong Kang
Reduced ocular pigmentation is common in Angelman syndrome (AS) and Prader-Willi syndrome (PWS) and is long thought to be caused by OCA2 deletion. GABRB3 is located in the 15q11-13 region flanked by UBE3A, GABRA5, GABRG3, and OCA2. Mutations in GABRB3 have frequently been associated with epilepsy and autism, consistent with its role in neurodevelopment. We report here a robust phenotype in the mouse in which deletion of Gabrb3 alone causes nearly complete loss of retinal pigmentation due to atrophied melanosomes, as evidenced by electron microscopy...
December 20, 2016: Cell Reports
https://www.readbyqxmd.com/read/28007570/dysfunctional-oleoylethanolamide-signaling-in-a-mouse-model-of-prader-willi-syndrome
#6
Miki Igarashi, Vidya Narayanaswami, Virginia Kimonis, Pietro M Galassetti, Fariba Oveisi, Kwang-Mook Jung, Daniele Piomelli
Prader-Willi syndrome (PWS), the leading genetic cause of obesity, is characterized by a striking hyperphagic behavior that can lead to obesity, type-2 diabetes, cardiovascular disease and death. The molecular mechanism underlying impaired satiety in PWS is unknown. Oleoylethanolamide (OEA) is a lipid mediator involved in the control of feeding, body weight and energy metabolism. OEA produced by small-intestinal enterocytes during dietary fat digestion activates type-α peroxisome proliferator-activated receptors (PPAR-α) to trigger an afferent signal that causes satiety...
December 19, 2016: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
https://www.readbyqxmd.com/read/28004416/changeability-of-the-fully-methylated-status-of-the-15q11-2-region-in-induced-pluripotent-stem-cells-derived-from-a-patient-with-prader-willi-syndrome
#7
Hironobu Okuno, Kazuhiko Nakabayashi, Kousei Abe, Takayuki Ando, Tsukasa Sanosaka, Jun Kohyama, Wado Akamatsu, Manabu Ohyama, Takao Takahashi, Kenjiro Kosaki, Hideyuki Okano
Prader-Will syndrome (PWS) is characterized by hyperphagia, growth hormone deficiency and central hypogonadism caused by the dysfunction of the hypothalamus. Patients with PWS present with methylation abnormalities of the PWS-imprinting control region in chromosome 15q11.2, subject to parent-of-origin-specific methylation and controlling the parent-of-origin-specific expression of other paternally expressed genes flanking the region. In theory, the reversal of hypermethylation in the hypothalamic cells could be a promising strategy for the treatment of PWS patients, since cardinal symptoms of PWS patients are correlated with dysfunction of the hypothalamus...
December 21, 2016: Congenital Anomalies
https://www.readbyqxmd.com/read/27997924/test-retest-reliability-of-scotopic-and-mesopic-fundus-controlled-perimetry-using-a-modified-maia-macular-integrity-assessment-in-normal-eyes
#8
Maximilian Pfau, Moritz Lindner, Monika Fleckenstein, Robert P Finger, Gary S Rubin, Wolf M Harmening, Marco U Morales, Frank G Holz, Steffen Schmitz-Valckenberg
PURPOSE: To assess the intrasession test-retest reliability of scotopic cyan and scotopic red fundus-controlled perimetry (FCP) in normal subjects using a modified MAIA "microperimeter" (macular integrity assessment) device. METHODS: Forty-seven normal eyes of 30 subjects (aged 33.8 years) underwent duplicate mesopic (achromatic stimuli, 400-800 nm), scotopic cyan (505 nm), and scotopic red (627 nm) FCP, using a grid of 49 stimuli over 14° of the central retina...
December 21, 2016: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/27982202/a-boy-with-prader-willi-syndrome-unmasking-precocious-puberty-during-growth-hormone-replacement-therapy
#9
Natasha G Ludwig, Rafael F Radaeli, Mariana M X Silva, Camila M Romero, Alexandre J F Carrilho, Danielle Bessa, Delanie B Macedo, Maria L Oliveira, Ana Claudia Latronico, Tânia L Mazzuco
Prader-Willi syndrome (PWS) is a genetic disorder frequently characterized by obesity, growth hormone deficiency, genital abnormalities, and hypogonadotropic hypogonadism. Incomplete or delayed pubertal development as well as premature adrenarche are usually found in PWS, whereas central precocious puberty (CPP) is very rare. This study aimed to report the clinical and biochemical follow-up of a PWS boy with CPP and to discuss the management of pubertal growth. By the age of 6, he had obesity, short stature, and many clinical criteria of PWS diagnosis, which was confirmed by DNA methylation test...
November 2016: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27977285/general-practitioners-beliefs-about-people-with-schizophrenia-and-whether-they-should-be-subject-to-discriminatory-treatment-when-in-medical-hospital-the-mediating-role-of-dangerousness-perception
#10
Lorenza Magliano, Rosanna Punzo, Antonella Strino, Roberta Acone, Gaetana Affuso, John Read
This study explored the relationships between General Practitioners' (GPs) beliefs about People With Schizophrenia (PWS) and GPs' recommendations regarding restrictions for such people when in medical (nonpsychiatric) hospital, and whether these relationships were mediated by dangerousness perception. There were 322 randomly selected Italian GPs who completed a questionnaire measuring beliefs about PWS. Structural Equation Model (SEM) was used to explore the effects of these beliefs on the GPs' views about the need for restrictive rules in hospital...
December 15, 2016: American Journal of Orthopsychiatry
https://www.readbyqxmd.com/read/27974191/diagnosis-and-treatment-of-gh-deficiency-in-prader-willi-syndrome
#11
REVIEW
Graziano Grugni, Paolo Marzullo
Prader-Willi syndrome (PWS) results from under-expression of the paternally-derived chromosomal region 15q11-13. Growth failure is a recognized feature of PWS, and both quantitative and qualitative defects of the GH/IGF-I axis revealing GH deficiency (GHD) have been demonstrated in most children with PWS. In PWS adults, criteria for GHD are biochemically fulfilled in 8-38% of the studied cohorts. Published data support benefits of early institution of GH therapy (GHT) in PWS children, with positive effects on statural growth, body composition, metabolic homeostasis, and neurocognitive function...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
https://www.readbyqxmd.com/read/27955934/quality-of-life-in-adults-with-facial-port-wine-stains
#12
Solveig L Hagen, Katherine R Grey, Dorota Z Korta, Kristen M Kelly
BACKGROUND: Facial port-wine stains (PWS) are considered by some an aesthetic skin problem, yet impact on quality of life (QoL) has not been objectively documented. OBJECTIVE: We sought to (1) characterize the effect of PWS on QoL in adults, (2) to identify the clinical and demographic factors that affect QoL, and (3) to compare our results with QoL studies in other skin conditions. METHODS: In total, 244 adults with facial PWS completed an online QoL survey, which included the Skindex-29 instrument...
December 9, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27941250/impaired-prohormone-processing-a-grand-unified-theory-for-features-of-prader-willi-syndrome
#13
Joseph Polex-Wolf, Giles S H Yeo, Stephen O'Rahilly
Prader-Willi syndrome (PWS) is a complex disorder that manifests with an array of phenotypes, such as hypotonia and difficulties in feeding during infancy and reduced energy expenditure, hyperphagia, and developmental delays later in life. While the genetic cause has long been known, it is still not clear how mutations at this locus produce this array of phenotypes. In this issue of the JCI, Burnett and colleagues used a comprehensive approach to gain insight into how PWS-associated mutations drive disease...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27941249/deficiency-in-prohormone-convertase-pc1-impairs-prohormone-processing-in-prader-willi-syndrome
#14
Lisa C Burnett, Charles A LeDuc, Carlos R Sulsona, Daniel Paull, Richard Rausch, Sanaa Eddiry, Jayne F Martin Carli, Michael V Morabito, Alicja A Skowronski, Gabriela Hubner, Matthew Zimmer, Liheng Wang, Robert Day, Brynn Levy, Ilene Fennoy, Beatrice Dubern, Christine Poitou, Karine Clement, Merlin G Butler, Michael Rosenbaum, Jean Pierre Salles, Maithe Tauber, Daniel J Driscoll, Dieter Egli, Rudolph L Leibel
Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an imprinted region of chromosome 15q. Among the canonical PWS phenotypes are hyperphagic obesity, central hypogonadism, and low growth hormone (GH). Rare microdeletions in PWS patients define a 91-kb minimum critical deletion region encompassing 3 genes, including the noncoding RNA gene SNORD116. Here, we found that protein and transcript levels of nescient helix loop helix 2 (NHLH2) and the prohormone convertase PC1 (encoded by PCSK1) were reduced in PWS patient induced pluripotent stem cell-derived (iPSC-derived) neurons...
January 3, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/27931246/increased-alternate-splicing-of-htr2c-in-a-mouse-model-for-prader-willi-syndrome-leads-disruption-of-5ht2c-receptor-mediated-appetite
#15
Alastair S Garfield, Jennifer R Davies, Luke K Burke, Hannah V Furby, Lawrence S Wilkinson, Lora K Heisler, Anthony R Isles
Alternate splicing of serotonin (5-hydroxytryptamine; 5-HT) 2C receptor (5-HT2CR) pre-RNA is negatively regulated by the small nucleolar RNA, Snord115, loss of which is observed in nearly all individuals with Prader-Willi Syndrome (PWS), a multigenic disorder characterised by hyperphagia and obesity. Given the role of the 5-HT2CR in the regulation of ingestive behaviour we investigated the pathophysiological implications of Snord115 deficiency on 5-HT2CR regulated appetite in a genotypically relevant PWS mouse model (PWS-IC)...
December 8, 2016: Molecular Brain
https://www.readbyqxmd.com/read/27923402/physicians-job-satisfaction-and-motivation-in-a-public-academic-hospital
#16
Paulo de Oliveira Vasconcelos Filho, Miriam Regina de Souza, Paulo Eduardo Mangeon Elias, Ana Luiza D'Ávila Viana
BACKGROUND: Physician shortage is a global issue that concerns Brazil's authorities. The organizational structure and the environment of a medical institution can hide a low-quality life of a physician. This study examines the relationship between the hospital work environment and physicians' job satisfaction and motivation when working in a large public academic hospital. METHODS: The study was restricted to one large, multispecialty Brazil's hospital. Six hundred hospital physicians were invited to participate by e-mail...
December 7, 2016: Human Resources for Health
https://www.readbyqxmd.com/read/27919696/the-role-of-anxiety-in-stuttering-evidence-from-functional-connectivity
#17
Yang Yang, Fanlu Jia, Wai Ting Siok, Li Hai Tan
Persistent developmental stuttering is a neurologically based speech disorder associated with cognitive-linguistic, motor and emotional abnormalities. Previous studies investigating the relationship between anxiety and stuttering have yielded mixed results, but it has not yet been examined whether anxiety influences brain activity underlying stuttering. Here, using functional magnetic resonance imaging (fMRI), we investigated the functional connectivity associated with state anxiety in a syllable repetition task, and trait anxiety during rest in adults who stutter (N=19) and fluent controls (N=19)...
December 2, 2016: Neuroscience
https://www.readbyqxmd.com/read/27900261/targeting-the-endocannabinoid-cb1-receptor-system-for-treating-obesity-in-prader-willi-syndrome
#18
Ibrahim Knani, Brian J Earley, Shiran Udi, Alina Nemirovski, Rivka Hadar, Asaad Gammal, Resat Cinar, Harry J Hirsch, Yehuda Pollak, Itai Gross, Talia Eldar-Geva, Daniela P Reyes-Capo, Joan C Han, Andrea M Haqq, Varda Gross-Tsur, Rachel Wevrick, Joseph Tam
OBJECTIVE: Extreme obesity is a core phenotypic feature of Prader-Willi syndrome (PWS). Among numerous metabolic regulators, the endocannabinoid (eCB) system is critically involved in controlling feeding, body weight, and energy metabolism, and a globally acting cannabinoid-1 receptor (CB1R) blockade reverses obesity both in animals and humans. The first-in-class CB1R antagonist rimonabant proved effective in inducing weight loss in adults with PWS. However, it is no longer available for clinical use because of its centrally mediated, neuropsychiatric, adverse effects...
December 2016: Molecular Metabolism
https://www.readbyqxmd.com/read/27896684/use-of-spray-dried-dispersions-in-early-pharmaceutical-development-theoretical-and-practical-challenges
#19
Jinjiang Li, Dhaval Patel, George Wang
Spray-dried dispersions (SDDs) have become an important formulation technology for the pharmaceutical product development of poorly water-soluble (PWS) compounds. Although this technology is now widely used in the industry, especially in the early-phase development, the lack of mechanistic understanding still causes difficulty in selecting excipients and predicting stability of SDD-based drug products. In this review, the authors aim to discuss several principles of polymer science pertaining to the development of SDDs, in terms of selecting polymers and solvents, optimizing drug loading, as well as assessing physical stability on storage and supersaturation maintenance after dissolution, from both thermodynamic and kinetic considerations...
November 28, 2016: AAPS Journal
https://www.readbyqxmd.com/read/27894106/prader-willi-syndrome-due-to-an-unbalanced-de-novo-translocation-t-15-19-q12-p13-3
#20
Vy Dang, Abhilasha Surampalli, Ann M Manzardo, Stephanie Youn, Merlin G Butler, June-Anne Gold, Virginia E Kimonis
Prader-Willi syndrome (PWS) is a complex, multisystem genetic disorder characterized by endocrine, neurologic, and behavioral abnormalities. We report the first case of an unbalanced de novo reciprocal translocation of chromosomes 15 and 19, 45,XY,-15,der(19)t(15;19)(q12;p13.3), resulting in monosomy for the PWS critical chromosome region. Our patient had several typical features of PWS including infantile hypotonia, a poor suck and feeding difficulties, tantrums, skin picking, compulsions, small hands and feet, and food seeking, but not hypopigmentation, a micropenis, cryptorchidism or obesity as common findings seen in PWS at the time of examination at 6 years of age...
2016: Cytogenetic and Genome Research
keyword
keyword
36555
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"