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https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#1
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: 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 (EQA) schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis (NIPD)...
May 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28484880/what-is-new-in-cdg
#2
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...
May 8, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28435914/factors-predictive-of-topographical-accuracy-in-spine-level-localization
#3
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
#4
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
https://www.readbyqxmd.com/read/27903848/a-new-peritoneal-dialysis-training-guideline-from-the-ispd-nursing-committee
#5
Helen Hurst
No abstract text is available yet for this article.
November 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/27857147/molecular-mechanism-of-action-of-antimalarial-benzoisothiazolones-species-selective-inhibitors-of-the-plasmodium-spp-mep-pathway-enzyme-ispd
#6
Kathryn E Price, Christopher M Armstrong, Leah S Imlay, Dana M Hodge, C Pidathala, Natalie J Roberts, Jooyoung Park, Marwa Mikati, Raman Sharma, Alexandre S Lawrenson, Niraj H Tolia, Neil G Berry, Paul M O'Neill, Audrey R Odom John
The methylerythritol phosphate (MEP) pathway is an essential metabolic pathway found in malaria parasites, but absent in mammals, making it a highly attractive target for the discovery of novel and selective antimalarial therapies. Using high-throughput screening, we have identified 2-phenyl benzo[d]isothiazol-3(2H)-ones as species-selective inhibitors of Plasmodium spp. 2-C-methyl-D-erythritol-4-phosphate cytidyltransferase (IspD), the third catalytic enzyme of the MEP pathway. 2-Phenyl benzo[d]isothiazol-3(2H)-ones display nanomolar inhibitory activity against P...
November 18, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27854285/organ-and-growing-stage-specific-expression-of-solanesol-biosynthesis-genes-in-nicotiana-tabacum-reveals-their-association-with-solanesol-content
#7
Ning Yan, Hongbo Zhang, Zhongfeng Zhang, John Shi, Michael P Timko, Yongmei Du, Xinmin Liu, Yanhua Liu
Solanesol is a noncyclic terpene alcohol that is composed of nine isoprene units and mainly accumulates in solanaceous plants, especially tobacco (Nicotiana tabacum L.). In the present study, RNA-seq analyses of tobacco leaves, stems, and roots were used to identify putative solanesol biosynthesis genes. Six 1-deoxy-d-xylulose 5-phosphate synthase (DXS), two 1-deoxy-d-xylulose 5-phosphate reductoisomerase (DXR), two 2-C-methyl-d-erythritol 4-phosphate cytidylyltransferase (IspD), four 4-diphosphocytidyl-2-C-methyl-d-erythritol kinase (IspE), two 2-C-methyl-d-erythritol 2,4-cyclo-diphosphate synthase (IspF), four 1-hydroxy-2-methyl-2-(E)-butenyl 4-diphosphate synthase (IspG), two 1-hydroxy-2-methyl-2-(E)-butenyl 4-diphosphate reductase (IspH), six isopentenyl diphosphate isomerase (IPI), and two solanesyl diphosphate synthase (SPS) candidate genes were identified in the solanesol biosynthetic pathway...
November 15, 2016: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/27821871/a-structural-and-functional-study-on-the-2-c-methyl-d-erythritol-4-phosphate-cytidyltransferase-ispd-from-bacillus-subtilis
#8
Yun Jin, Zhongchuan Liu, Yanjie Li, Weifeng Liu, Yong Tao, Ganggang Wang
2-C-Methyl-D-erythritol-4-phosphate cytidyltransferase (IspD) is an essential enzyme in the mevalonate-independent pathway of isoprenoid biosynthesis. This enzyme catalyzes 2-C-Methyl-d-erythritol 4-phosphate (MEP) and cytosine triphosphate (CTP) to 4-diphosphocytidyl-2-C-methyl-d-erythritol (CDPME) and inorganic pyrophosphate (PPi). Bacillus subtilis was a kind of excellent isoprene producer. However, the studies on the key enzymes of MEP pathway in B. subtilis were still absent. In this work, the crystal structures of IspD and IspD complexed with CTP from B...
November 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27717678/results-of-application-of-the-ispd-guidelines-to-the-management-of-peritoneal-dialysis-in-a-single-center-in-sudan
#9
Sahar M Kheir, Shamsoun Khamis Kafi, Patrik Ryden, Haitham Elbir, Mohammed A Soliman, Shima Ali, Ramy Abulikailik, Khadega Ahamed, Hasan Abu-Aisha
The culture negative peritonitis in Sudan 2010 was 46% exceeding 20% of the recommended ISPD (International Society for Peritoneal Dialysis) guidelines. This study reports an update after applying the standard ISPD protocol. The routine method was replaced by ISPD protocol. The culture negative rate using the ISPD guidelines dropped from 46% in the year 2010, to 39% in the year 2011, to 5% in the 2012 and to zero percent in the year 2013. Bacterial and fungal species represent (86.76%) and (13.23%) of infection and most isolates showed low resistance rate to antibiotics...
October 4, 2016: Journal of Infection and Public Health
https://www.readbyqxmd.com/read/27679614/new-insight-into-isoprenoids-biosynthesis-process-and-future-prospects-for-drug-designing-in-plasmodium
#10
REVIEW
Gagandeep S Saggu, Zarna R Pala, Shilpi Garg, Vishal Saxena
The MEP (Methyl Erythritol Phosphate) isoprenoids biosynthesis pathway is an attractive drug target to combat malaria, due to its uniqueness and indispensability for the parasite. It is functional in the apicoplast of Plasmodium and its products get transported to the cytoplasm, where they participate in glycoprotein synthesis, electron transport chain, tRNA modification and several other biological processes. Several compounds have been tested against the enzymes involved in this pathway and amongst them Fosmidomycin, targeted against IspC (DXP reductoisomerase) enzyme and MMV008138 targeted against IspD enzyme have shown good anti-malarial activity in parasite cultures...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27659924/the-2016-ispd-update-on-prevention-and-treatment-of-peritonitis-grading-the-evidence
#11
EDITORIAL
Martin Wilkie
No abstract text is available yet for this article.
September 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/27638987/joint-sogc-ccmg-opinion-for-reproductive-genetic-carrier-screening-an-update-for-all-canadian-providers-of-maternity-and-reproductive-healthcare-in-the-era-of-direct-to-consumer-testing
#12
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/27601598/direct-mapping-of-additional-modifications-on-phosphorylated-o-glycans-of-%C3%AE-dystroglycan-by-mass-spectrometry-analysis-in-conjunction-with-knocking-out-of-causative-genes-for-dystroglycanopathy
#13
Hirokazu Yagi, Chu-Wei Kuo, Takayuki Obayashi, Satoshi Ninagawa, Kay-Hooi Khoo, Koichi Kato
Dystroglycanopathy is a major class of congenital muscular dystrophy caused by a deficiency of functional glycans on α-dystroglycan (αDG) with laminin-binding activity. Recent advances have led to identification of several causative gene products of dystroglycanopathy and characterization of their in vitro enzymatic activities. However, the in vivo functional roles remain equivocal for enzymes such as ISPD, FKTN, FKRP, and TMEM5 that are supposed to be involved in post-phosphoryl modifications linking the GalNAc-β3-GlcNAc-β4-Man-6-phosphate core and the outer laminin-binding glycans...
November 2016: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/27392164/abstracts-of-the-ispd-20th-international-conference-on-prenatal-diagnosis-and-therapy-berlin-germany-10-13-july-2016
#14
(no author information available yet)
No abstract text is available yet for this article.
July 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27318887/-peritoneal-dialysis-for-acute-renal-failure-rediscovery-of-an-old-modality-of-renal-replacement-therapy
#15
Belkacem Issad, Guy Rostoker, Corinne Bagnis, Gilbert Deray
Acute renal failure (ARF) in adults in the intensive care unit (ICU) often evolves in a context of multiple organ failure, which explains the high mortality rate and increase treatment needs. Among, two modalities of renal replacement therapy, peritoneal dialysis (PD) was the first modality used for the treatment of ARF in the 1950s. Today, while PD is generalized for chronic renal failure treatment, its use in the ICU is limited, particularly, due to the advent of new hemodialysis techniques and the development of continuous replacement therapy...
July 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27282851/ispd-peritonitis-recommendations-2016-update-on-prevention-and-treatment
#16
Philip Kam-Tao Li, Cheuk Chun Szeto, Beth Piraino, Javier de Arteaga, Stanley Fan, Ana E Figueiredo, Douglas N Fish, Eric Goffin, Yong-Lim Kim, William Salzer, Dirk G Struijk, Isaac Teitelbaum, David W Johnson
No abstract text is available yet for this article.
September 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/27234031/improved-diagnostic-yield-of-neuromuscular-disorders-applying-clinical-exome-sequencing-in-patients-arising-from-a-consanguineous-population
#17
Z Fattahi, Z Kalhor, M Fadaee, R Vazehan, E Parsimehr, A Abolhassani, M Beheshtian, G Zamani, S Nafissi, Y Nilipour, M R Akbari, K Kahrizi, A Kariminejad, H Najmabadi
Neuromuscular diseases (NMDs) include a broad range of disorders affecting muscles, nerves and neuromuscular junctions. Their overlapping phenotypes and heterogeneous genetic nature have created challenges in diagnosis which calls for the implementation of massive parallel sequencing as a candidate strategy to increase the diagnostic yield. In this study, total of 45 patients, mostly offspring of consanguineous marriages were examined using whole exome sequencing. Data analysis was performed to identify the most probable pathogenic rare variants in known NMD genes which led to identification of causal variants for 33 out of 45 patients (73...
March 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27194101/ispd-produces-cdp-ribitol-used-by-fktn-and-fkrp-to-transfer-ribitol-phosphate-onto-%C3%AE-dystroglycan
#18
Isabelle Gerin, Benoît Ury, Isabelle Breloy, Céline Bouchet-Seraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G Muccioli, Nathalie Seta, Jean-Marie Cuisset, Ivana Dabaj, Susana Quijano-Roy, Ammi Grahn, Emile Van Schaftingen, Guido T Bommer
Mutations in genes required for the glycosylation of α-dystroglycan lead to muscle and brain diseases known as dystroglycanopathies. However, the precise structure and biogenesis of the assembled glycan are not completely understood. Here we report that three enzymes mutated in dystroglycanopathies can collaborate to attach ribitol phosphate onto α-dystroglycan. Specifically, we demonstrate that isoprenoid synthase domain-containing protein (ISPD) synthesizes CDP-ribitol, present in muscle, and that both recombinant fukutin (FKTN) and fukutin-related protein (FKRP) can transfer a ribitol phosphate group from CDP-ribitol to α-dystroglycan...
May 19, 2016: Nature Communications
https://www.readbyqxmd.com/read/27130732/the-functional-o-mannose-glycan-on-%C3%AE-dystroglycan-contains-a-phospho-ribitol-primed-for-matriglycan-addition
#19
Jeremy L Praissman, Tobias Willer, M Osman Sheikh, Ants Toi, David Chitayat, Yung-Yao Lin, Hane Lee, Stephanie H Stalnaker, Shuo Wang, Pradeep Kumar Prabhakar, Stanley F Nelson, Derek L Stemple, Steven A Moore, Kelley W Moremen, Kevin P Campbell, Lance Wells
Multiple glycosyltransferases are essential for the proper modification of alpha-dystroglycan, as mutations in the encoding genes cause congenital/limb-girdle muscular dystrophies. Here we elucidate further the structure of an O-mannose-initiated glycan on alpha-dystroglycan that is required to generate its extracellular matrix-binding polysaccharide. This functional glycan contains a novel ribitol structure that links a phosphotrisaccharide to xylose. ISPD is a CDP-ribitol (ribose) pyrophosphorylase that generates the reduced sugar nucleotide for the insertion of ribitol in a phosphodiester linkage to the glycoprotein...
2016: ELife
https://www.readbyqxmd.com/read/27006437/mycobacterial-peritonitis-in-capd-patients-in-limpopo-a-6-year-cumulative-report-from-a-single-center-in-south-africa
#20
Ramon A Tamayo-Isla, Mauro Cuba de la Cruz, Ikechi G Okpechi
South Africa has one of the highest incidences of tuberculosis (TB) worldwide due to the ongoing human immunodeficiency virus (HIV) epidemic. There are, however, no reports on peritonitis in continuous ambulatory peritoneal dialysis (CAPD) patients due to Mycobacterium tuberculosis in South Africa. The aim of this study is to discuss our experience of tuberculous peritonitis in CAPD patients from a rural endemic area of South Africa. This is a retrospective descriptive study of CAPD patients diagnosed with mycobacterium peritonitis infection from January 2008 to August 2014 at the Limpopo Kidney and Dialysis Centre (LKDC) in South Africa...
March 2016: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
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