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https://www.readbyqxmd.com/read/29221866/a-capillary-zone-electrophoresis-method-for-detection-of-apolipoprotein-c-iii-glycoforms-and-other-related-artifactually-modified-species
#1
Coralie Ruel, Marco Morani, Arnaud Bruneel, Christophe Junot, Myriam Taverna, François Fenaille, Thuy Tran
ApolipoproteinC-III (ApoC-III) is a human plasma glycoprotein whose O-glycosylation can be altered as a result of congenital disorders of glycosylation (CDG). ApoC-III exhibits three major glycoforms whose relative quantification is of utmost importance for the diagnosis of CDG patients. Considering the very close structures of these glycoforms and their tendency to adsorb on the capillary, a thorough optimization of capillary electrophoresis (CE) parameters including preconditioning and in-between rinsing procedures was required to efficiently separate all the ApoC-III glycoforms...
December 5, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/29147070/evidences-of-a-new-psychobiotic-formulation-on-body-composition-and-anxiety
#2
Carmela Colica, Ennio Avolio, Patrizio Bollero, Renata Costa de Miranda, Simona Ferraro, Paola Sinibaldi Salimei, Antonino De Lorenzo, Laura Di Renzo
Background: Gut microbiota is implied in obesity, because of its ability to harvest energy from diet, and in the regulation of behavior. Given the link between gut microbiota, body composition, obesity, and anxiety, the aim of this study was to evaluate the effects of a new psychobiotic formulation. Methods: Eligible patients were randomly divided into three groups: psychobiotics oral suspension group (POSG); dietary treatment group (DTG); combined treatment group (CTG)...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/29113899/neurosurgery-in-octogenarians-a-prospective-study-on-perioperative-morbidity-mortality-and-complications-in-elderly-patients
#3
Nicolai Maldaner, Johannes Sarnthein, Oliver Bozinov, Luca Regli, Marian Christoph Neidert
OBJECTIVE: The aging population in industrialized countries shifts the age limit for neurosurgical interventions towards increasingly older patients. This study investigates whether octogenarians (≥80 years) stand out in outcome and incidence of perioperative complications. METHODS: Consecutive patients ≥80 years operated between January 2013 to August 2016 were compared against a control group of patients aged 55 - 75 years matched by indication for surgery...
November 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29112118/nutritional-therapies-in-congenital-disorders-of-glycosylation-cdg
#4
REVIEW
Peter Witters, David Cassiman, Eva Morava
Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies...
November 7, 2017: Nutrients
https://www.readbyqxmd.com/read/29109063/normal-pressure-hydrocephalus-shunt-patients-have-fewer-complications-than-other-shunt-patients
#5
Pascale Schenker, Lennart Stieglitz, Beate Sick, Martin N Stienen, Luca Regli, Johannes Sarnthein
BACKGROUND: Ventriculoperitoneal (VP) shunting is a well-established therapy for hydrocephalus. However, complications are frequent. The incidence of idiopathic normal pressure hydrocephalus (NPH) rises with the aging of the population. We evaluated the functional status of patients and the classification of complications associated with VP shunt procedures in our center. METHODS: We recorded all VP-shunt procedures in our prospective patient registry from January 2013 to December 2015...
November 3, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29079546/congenital-disorders-of-glycosylation-cdg-quo-vadis
#6
REVIEW
Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J Lefeber, Eva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG...
October 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29063274/conserved-oligomeric-golgi-and-neuronal-vesicular-trafficking
#7
Leslie K Climer, Rachel D Hendrix, Vladimir V Lupashin
The conserved oligomeric Golgi (COG) complex is an evolutionary conserved multi-subunit vesicle tethering complex essential for the majority of Golgi apparatus functions: protein and lipid glycosylation and protein sorting. COG is present in neuronal cells, but the repertoire of COG function in different Golgi-like compartments is an enigma. Defects in COG subunits cause alteration of Golgi morphology, protein trafficking, and glycosylation resulting in human congenital disorders of glycosylation (CDG) type II...
October 21, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/28954837/clinical-laboratory-and-molecular-findings-and-long-term-follow-up-data-in-96-french-patients-with-pmm2-cdg-phosphomannomutase-2-congenital-disorder-of-glycosylation-and-review-of-the-literature
#8
Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay
BACKGROUND: Phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG) is a multisystem inborn error of metabolism. OBJECTIVES: To better characterise the natural history of PMM2-CDG. METHODS: Medical charts of 96 patients with PMM2-CDG (86 families, 41 males, 55 females) were retrospectively reviewed. Data on clinical, laboratory and molecular parameters at diagnosis were analysed. Follow-up data at last examination were reported for 25 patients...
September 27, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28950866/public-and-patient-involvement-in-needs-assessment-and-social-innovation-a-people-centred-approach-to-care-and-research-for-congenital-disorders-of-glycosylation
#9
Cláudia de Freitas, Vanessa Dos Reis, Susana Silva, Paula A Videira, Eva Morava, Jaak Jaeken
BACKGROUND: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional stakeholders in devising community-framed strategies to address the unmet needs of rare diseases are lacking...
September 26, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/28940310/single-center-experience-of-n-linked-congenital-disorders-of-glycosylation-with-a-summary-of-molecularly-characterized-cases-in-arabs
#10
Fatma Bastaki, Sami Bizzari, Sana Hamici, Pratibha Nair, Madiha Mohamed, Fatima Saif, Ethar Mustafa Malik, Mahmoud Taleb Al-Ali, Abdul Rezzak Hamzeh
Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is further complicated by ethno-geographic differences in the mutational landscape of each of these subgroups. Ten Arab CDG patients from Latifa Hospital in Dubai, United Arab Emirates, were assessed using biochemical (glycosylation status of transferrin) and molecular approaches (next-generation sequencing [NGS] and Sanger sequencing)...
September 21, 2017: Annals of Human Genetics
https://www.readbyqxmd.com/read/28932688/alg9-cdg-new-clinical-case-and-review-of-the-literature
#11
Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster, Xueli Li, Miao He, Walla Al-Hertani
Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in ALG9. This gene encodes the enzyme alpha-1,2-mannosyltransferase. To date, a total of 10 patients from 6 different families have been reported with one of four ALG9 mutations. Seven of these patients had a similar phenotype with failure to thrive, dysmorphic features, seizures, hepatic and/or renal cysts; the other three patients died in utero from a lethal skeletal dysplasia...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28924249/validating-a-therapy-oriented-complication-grading-system-in-lumbar-spine-surgery-a-prospective-population-based-study
#12
David Bellut, Jan-Karl Burkhardt, Dania Schultze, Howard J Ginsberg, Luca Regli, Johannes Sarnthein
The aim of the present study was to validate a therapy-oriented complication grading system in a well-defined neurosurgical patient population in which complications may entrain neurological deficits, which are severe but not treated. The prospective patient registry of the Department of Neurosurgery, University of Zurich provides extensive population-based data. In this study we focused on complications after lumbar spine surgeries and rated their severity by Clavien-Dindo grade (CDG). Analyzing 138 consecutive surgeries we noted 44 complications...
September 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28922188/new-insights-into-the-role-of-glycosylation-in-lipoprotein-metabolism
#13
Marjolein A W van den Boogert, Daniel J Rader, Adriaan G Holleboom
PURPOSE OF REVIEW: Human genetics has provided new insights into the role of protein glycosylation in regulating lipoprotein metabolism. Here we review these new developments and discuss the biological insights they provide. RECENT FINDINGS: Case descriptions of patients with congenital defects in N-glycosylation (CDG-I) frequently describe a distinct hypocholesterolemia in these rare multisystem clinical syndromes. Two novel CDGs with disturbed Golgi homeostasis and trafficking defects result in mixed glycosylation disorders, hepatic steatosis and hypercholesterolemia...
December 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28915903/a-quantitative-assessment-of-the-evolution-of-cerebellar-syndrome-in-children-with-phosphomannomutase-deficiency-pmm2-cdg
#14
Natalia Lourdes Serrano, Victor De Diego, Daniel Cuadras, Antonio F Martinez Monseny, Ramón Velázquez-Fragua, Laura López, Ana Felipe, Luis G Gutiérrez-Solana, Alfons Macaya, Belén Pérez-Dueñas, Mercedes Serrano
BACKGROUND: We aim to delineate the progression of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG) using the International Cooperative Ataxia Rating Scale (ICARS). We sought correlation between cerebellar volumetry and clinical situation. We prospectively evaluated PMM2-CDG patients aged from 5 to 18 years through ICARS at two different time points set apart by at least 20 months. We reviewed available MRIs and performed volumetric analysis when it was possible...
September 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28887793/alg13-cdg-with-infantile-spasms-in-a-male-patient-due-to-a-de-novo-alg13-gene-mutation
#15
Wienke H Galama, Sandra L J Verhaagen-van den Akker, Dirk J Lefeber, Ilse Feenstra, Aad Verrips
A boy presented at the age of 3.5 months with a developmental delay. He developed infantile spasms with hypsarrhytmia on EEG 1 month later. Additional symptoms were delayed visual development, asymmetrical hearing loss, hypotonia, and choreoathetoid movements. He also had some dysmorphic features and was vulnerable for infections. He was treated successively with vigabatrin, prednisolone, valproic acid, nitrazepam, and lamotrigine without a lasting clinical effect, but showed a treatment response to levetiracetam...
September 9, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28885553/deviation-of-chinese-adults-diet-from-the-chinese-food-pagoda-2016-and-its-association-with-adiposity
#16
Xu Tian, Yingying Huang, Hui Wang
Changing diet in China contributes to a raising prevalence of overweight and obesity. This study aimed to evaluate the dietary status of Chinese adults (20-59 years old) using the China Food Pagoda (CFP) proposed in the Chinese Dietary Guidelines 2016 (CDG), and investigate the association between adiposity and deviation of real diet from CFP using an ordered logistic regression. Results showed that the consumption of fruits, eggs, meat, and poultry increased significantly during 2004-2011, while the consumption of cereal, potatoes, and beans dropped down significantly during the same period (all p < 0...
September 8, 2017: Nutrients
https://www.readbyqxmd.com/read/28883096/cog7-deficiency-in-drosophila-generates-multifaceted-developmental-behavioral-and-protein-glycosylation-phenotypes
#17
Anna Frappaolo, Stefano Sechi, Tadahiro Kumagai, Sarah Robinson, Roberta Fraschini, Angela Karimpour Ghahnavieh, Giorgio Belloni, Roberto Piergentili, Katherine H Tiemeyer, Michael Tiemeyer, Maria Grazia Giansanti
Congenital Disorders of Glycosylation (CDG) comprise a family of human multi-systemic diseases caused by recessive mutations in genes required for protein N-glycosylation. More than 100 distinct forms of CDGs have been identified and most of them cause severe neurological impairment. The Conserved Oligomeric Golgi (COG) complex mediates tethering of vesicles carrying glycosylation enzymes across the Golgi cisternae. Mutations affecting human COG1, COG2, COG4-COG8 cause monogenic forms of inherited, autosomal recessive, CDGs...
September 7, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28845183/efficacy-of-topical-compound-danxiong-granules-for-treatment-of-dermatologic-toxicities-induced-by-targeted-anticancer-therapy-a-randomized-double-blind-placebo-controlled-trial
#18
Aiping Tian, Aiping Zhou, Xinyu Bi, Shangying Hu, Zhichao Jiang, Wen Zhang, Zhen Huang, Hongzhe Shi, Boyan Yang, Wei Chen
Dermatologic toxicities resulting in dose reduction or discontinuation of treatment pose challenges for targeted anticancer therapies. We conducted this randomized, double-blind, placebo-controlled trial to investigate the efficacy of topical application of Compound Danxiong Granules (CDG) for treatment of dermatologic toxicities associated with targeted anticancer therapies. One hundred and ten patients with dermatologic toxicities induced by targeted anticancer therapies were randomly assigned to CDG or placebo group...
2017: Evidence-based Complementary and Alternative Medicine: ECAM
https://www.readbyqxmd.com/read/28820871/genetic-predisposition-to-fetal-alcohol-syndrome-association-with-congenital-disorders-of-n-glycosylation
#19
María E de la Morena-Barrio, María J Ballesta-Martínez, Raquel López-Gálvez, Ana I Antón, Vanessa López-González, Laia Martínez-Ribot, José Padilla, Antonia Miñano, Oscar García-Algar, Miguel Del Campo, Javier Corral, Encarna Guillén-Navarro, Vicente Vicente
BACKGROUND: Fetal alcohol syndrome (FAS) is caused by maternal alcohol consumption during pregnancy, although additional factors must be involved, as development and severity are not directly related to alcohol intake. The abnormal glycosylation caused by alcohol might play a role in FAS according to the clinical similarities shared with congenital disorders of glycosylation (CDG). Thus, mutations underlying CDG, affecting genes involved in glycosylation, could also be involved in FAS...
August 18, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28816422/dolichol-kinase-deficiency-dolk-cdg-two-new-cases-and-expansion-of-phenotype
#20
Eric T Rush, Craig V Baker, William B Rizzo
Congenital disorders of glycosylation (CDGs) are a group of genetic diseases caused by mutations in genes that are necessary for the addition of oligosaccharides to acceptor proteins or lipids. An early step in this process requires dolichol kinase (DK) to catalyze the formation of dolichyl phosphate, which acts as a membrane anchor for initial attachment of sugar residues that are subsequently built up to oligosaccharides and transferred to acceptor proteins and lipids for further processing. Biallelic mutations in DOLK, the gene for DK, result in human in a CDG with variable symptoms, ranging from nonsyndromic dilated cardiomypopathy to severe multiorgan involvement...
September 2017: American Journal of Medical Genetics. Part A
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