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https://www.readbyqxmd.com/read/29478308/encapsulated-peritoneal-sclerosis-a-single-center-retrospective-analysis-of-clinical-manifestations-risk-factors-and-prognosis
#1
Yener Koc, Taner Basturk, Tamer Sakaci, Feyza B Caglayan, Nuri B Hasbal, Elbis Ahbap, Mustafa Sevinc, Ayse Sinangil, Zuhal A Ucan, Perin Nazif, Mahmut Islam, Abdulkadir Unsal
BACKGROUND: Encapsulated peritoneal sclerosis (EPS) is a multifactorial chronic intra- abdominal inflammatory disorder affecting the peritoneum diffusely. The aim of this study was to evaluate the rates of EPS in our peritoneal dialysis (PD) population, to perform a general assessment of the clinical presentation and to determine the outcome of affected patients and risk factors. METHODS: The medical records of consecutive 384 patients who started PD therapy between January 2001 and November 2016 were evaluated...
February 22, 2018: Minerva Urologica e Nefrologica, the Italian Journal of Urology and Nephrology
https://www.readbyqxmd.com/read/29335298/crystal-structure-of-ispf-from-bacillus-subtilis-and-absence-of-protein-complex-assembly-amongst-ispd-ispe-ispf-enzymes-in-the-mep-pathway
#2
Zhongchuan Liu, Yun Jin, Weifeng Liu, Yong Tao, Ganggang Wang
2-C-Methyl-d-erythritol 2,4-cyclodiphosphate synthase (IspF) is a key enzyme in the 2-C-Methyl-d-erythritol-4-phosphate (MEP) pathway of isoprenoid biosynthesis. This enzyme catalyzes the 4-diphosphocytidyl-2-C-methyl-d-erythritol 2-phosphate (CDPME2P) to 2-C-methyl-d-erythritol 2,4-cyclodiphosphate (MEcDP) with concomitant release of cytidine 5'-diphospate (CMP). Bacillus subtilis is a potential host cell for the production of isoprenoids, but few studies are performed on the key enzymes of MEP pathway in B...
February 28, 2018: Bioscience Reports
https://www.readbyqxmd.com/read/29315690/joint-position-statement-from-the-international-society-for-prenatal-diagnosis-ispd-the-society-for-maternal-fetal-medicine-smfm-and-the-perinatal-quality-foundation-pqf-on-the-use-of-genome-wide-sequencing-for-fetal-diagnosis
#3
https://www.readbyqxmd.com/read/29311196/non-touch-aseptic-technique-maintains-sterility-of-antibiotic-admixed-peritoneal-dialysis-fluid
#4
Louis L Huang, Ellen Ramas, Priti Prasad, Jenny Catania, Pauline Meade, Eamonn Butler, Lawrence P McMahon
There is a paucity of data on the sterility of peritoneal dialysis fluid (PDF) after drug admixture. International Society for Peritoneal Dialysis (ISPD) guidelines suggest using sterile technique when admixing antibiotics; however, the degree of sterility remains unclear. This issue is most pertinent when preparing take-home PDF for outpatient treatment of peritonitis. This study compares the sterility of PDF admixed with antibiotics using a non-touch aseptic technique (NTAT) versus sterile technique.Groups of 8 PDF mixtures (1...
January 2018: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/29180070/a-high-throughput-screening-campaign-to-identify-inhibitors-of-dxp-reductoisomerase-ispc-and-mep-cytidylyltransferase-ispd
#5
Amanda Haymond, Tyrone Dowdy, Chinchu Johny, Claire Johnson, Haley Ball, Allyson Dailey, Brandon Schweibenz, Karen Villarroel, Richard Young, Clark J Mantooth, Trishal Patel, Jessica Bases, Cynthia S Dowd, Robin D Couch
The rise of antibacterial resistance among human pathogens represents a problem that could change the landscape of healthcare unless new antibiotics are developed. The methyl erythritol phosphate (MEP) pathway represents an attractive series of targets for novel antibiotic design, considering each enzyme of the pathway is both essential and has no human homologs. Here we describe a pilot scale high-throughput screening (HTS) campaign against the first and second committed steps in the pathway, catalyzed by DXP reductoisomerase (IspC) and MEP cytidylyltransferase (IspD), using compounds present in the commercially available LOPAC1280 library as well as in an in-house natural product extract library...
February 1, 2018: Analytical Biochemistry
https://www.readbyqxmd.com/read/29081423/muscular-dystrophy-with-ribitol-phosphate-deficiency-a-novel-post-translational-mechanism-in-dystroglycanopathy
#6
Motoi Kanagawa, Tatsushi Toda
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness. In the early 2000s, a new classification of muscular dystrophy, dystroglycanopathy, was established. Dystroglycanopathy often associates with abnormalities in the central nervous system. Currently, at least eighteen genes have been identified that are responsible for dystroglycanopathy, and despite its genetic heterogeneity, its common biochemical feature is abnormal glycosylation of alpha-dystroglycan. Abnormal glycosylation of alpha-dystroglycan reduces its binding activities to ligand proteins, including laminins...
2017: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/29072835/biological-studies-and-target-engagement-of-the-2-c-methyl-d-erythritol-4-phosphate-cytidylyltransferase-ispd-targeting-antimalarial-agent-1r-3s-mmv008138-and-analogs
#7
Maryam Ghavami, Emilio F Merino, Zhong-Ke Yao, Rubayet Elahi, Morgan E Simpson, Maria L Fernández-Murga, Joshua H Butler, Michael A Casasanta, Priscilla M Krai, Maxim M Totrov, Daniel J Slade, Paul R Carlier, Maria Belen Cassera
Malaria continues to be one of the deadliest diseases worldwide, and the emergence of drug resistance parasites is a constant threat. Plasmodium parasites utilize the methylerythritol phosphate (MEP) pathway to synthesize isopentenyl pyrophosphate (IPP) and dimethylallyl pyrophosphate (DMAPP), which are essential for parasite growth. Previously, we and others identified that the Malaria Box compound MMV008138 targets the apicoplast and that parasite growth inhibition by this compound can be reversed by supplementation of IPP...
November 7, 2017: ACS Infectious Diseases
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#8
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28760865/dystroglycan-maintains-inner-limiting-membrane-integrity-to-coordinate-retinal-development
#9
Reena Clements, Rolf Turk, Kevin P Campbell, Kevin M Wright
Proper neural circuit formation requires the precise regulation of neuronal migration, axon guidance, and dendritic arborization. Mutations affecting the function of the transmembrane glycoprotein dystroglycan cause a form of congenital muscular dystrophy that is frequently associated with neurodevelopmental abnormalities. Despite its importance in brain development, the role of dystroglycan in regulating retinal development remains poorly understood. Using a mouse model of dystroglycanopathy (ISPD(L79*) ) and conditional dystroglycan mutants of both sexes, we show that dystroglycan is critical for the proper migration, axon guidance, and dendritic stratification of neurons in the inner retina...
August 30, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28688748/congenital-muscular-dystrophies-in-the-uk-population-clinical-and-molecular-spectrum-of-a-large-cohort-diagnosed-over-a-12-year-period
#10
Maria Sframeli, Anna Sarkozy, Marta Bertoli, Guja Astrea, Judith Hudson, Mariacristina Scoto, Rachael Mein, Michael Yau, Rahul Phadke, Lucy Feng, Caroline Sewry, Adeline Ngoh Seow Fen, Cheryl Longman, Gary McCullagh, Volker Straub, Stephanie Robb, Adnan Manzur, Kate Bushby, Francesco Muntoni
Congenital muscular dystrophies (CMDs) are clinically and genetically heterogeneous conditions; some fatal in the first few years of life and with central nervous system involvement, whereas others present a milder course. We provide a comprehensive report of the relative frequency and clinical and genetic spectrum of CMD in the UK. Genetic analysis of CMD genes in the UK is centralised in London and Newcastle. Between 2001 and 2013, a genetically confirmed diagnosis of CMD was obtained for 249 unrelated individuals referred to these services...
September 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28686408/mechanism-of-allosteric-inhibition-of-the-enzyme-ispd-by-three-different-classes-of-ligands
#11
Anatol Schwab, Boris Illarionov, Annika Frank, Andrea Kunfermann, Michael Seet, Adelbert Bacher, Matthias C Witschel, Markus Fischer, Michael Groll, François Diederich
Enzymes of the nonmevalonate pathway of isoprenoid biosynthesis are attractive targets for the development of herbicides and drugs against infectious diseases. While this pathway is essential for many pathogens and plants, mammals do not depend on it for the synthesis of isoprenoids. IspD, the third enzyme of the nonmevalonate pathway, is unique in that it has an allosteric regulatory site. We elucidated the binding mode of phenylisoxazoles, a new class of allosteric inhibitors. Allosteric inhibition is effected by large conformational changes of a loop region proximal to the active site...
July 7, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28681528/poster-abstracts-of-the-ispd-21st-international-conference-on-prenatal-diagnosis-and-therapy-san-diego-california-usa-9-12-july-2017
#12
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28681527/ispd-2017-abstract-author-index
#13
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28681526/oral-abstracts-of-the-ispd-21-st-international-conference-on-prenatal-diagnosis-and-therapy-san-diego-california-usa-9-12-july-2017
#14
(no author information available yet)
No abstract text is available yet for this article.
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28676507/length-of-time-on-peritoneal-dialysis-and-encapsulating-peritoneal-sclerosis-position-paper-for-ispd-2017-update
#15
Edwina A Brown, Joanne Bargman, Wim van Biesen, Ming-Yang Chang, Frederic O Finkelstein, Helen Hurst, David W Johnson, Hideki Kawanishi, Mark Lambie, Thyago Proença de Moraes, Johann Morelle, Graham Woodrow
No abstract text is available yet for this article.
July 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/28573488/peritoneal-dialysis-related-infections-recommendations-2016-update-what-is-new
#16
REVIEW
Vassilios Liakopoulos, Olga Nikitidou, Theofanis Kalathas, Stefanos Roumeliotis, Marios Salmas, Theodoros Eleftheriadis
In 2016, the International Society of Peritoneal Dialysis (ISPD) published guidelines that focus on the importance of both prevention and treatment of peritonitis. For once more, the need for annual reporting of peritonitis rates and recording of peritonitis and exit-site infections, isolated microorganism and antimicrobial susceptibilities as a central component of a quality improvement program is highlighted. Data on new antibiotic regimens, techniques for microorganism isolation and peritoneal dialysis solutions are included...
December 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-of-trisomies-13-18-and-21-a-consensus-opinion
#17
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: Non-invasive prenatal testing (NIPT) for trisomies 13, 18 and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here, we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis...
July 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28484880/what-is-new-in-cdg
#18
Jaak Jaeken, Romain Péanne
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation but also defects with hyperglycosylation. Genetic diseases with hypoglycosylation can be divided in primary congenital disorders of glycosylation (CDG) and in genetic diseases causing secondary hypoglycosylation. This review covers the human CDG highlights from the last 3 years (2014-2016) following a summary of the actual status of CDG. It expands on 23 novel CDG namely defects in SLC39A8, CAD, NANS, PGM3, SSR4, POGLUT1, NUS1, GANAB, PIGY, PIGW, PIGC, PIGG, PGAP1, PGAP3, VPS13B, CCDC115, TMEM199, ATP6AP1, ATP6V1A, ATP6V1E1, TRAPPC11, XYLT1 and XYLT2...
July 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28435914/factors-predictive-of-topographical-accuracy-in-spine-level-localization
#19
Jin W Tee, Joost Rutges, Travis Marion, John Street, Scott Paquette, Tamir Ailon, Brian K Kwon, Marcel Dvorak, Michael Boyd
BACKGROUND: Pre-operative spine level localization by palpation of anatomical landmarks (ribs, spinous processes) in posterior approaches for surgeries from T4 to L2 is often inaccurate. This can lead to ineffective utilization of procedural time, increased radiation dose, potentially longer skin incision and wrong level surgery. Factors affecting topographical accuracy includes body mass index (BMI) of the patient, congenital or acquired deformity and knowledge of topographical anatomy...
March 2017: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/28360365/ispd-catheter-related-infection-recommendations-2017-update
#20
REVIEW
Cheuk-Chun Szeto, Philip Kam-Tao Li, David W Johnson, Judith Bernardini, Jie Dong, Ana E Figueiredo, Yasuhiko Ito, Rumeyza Kazancioglu, Thyago Moraes, Sadie Van Esch, Edwina A Brown
No abstract text is available yet for this article.
March 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
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