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https://www.readbyqxmd.com/read/28342704/trends-in-the-presentation-surgical-treatment-and-outcomes-of-tethered-cord-syndrome-a-nationwide-study-from-2001-to-2010
#1
Cyrus M Jalai, Charles Wang, Bryan J Marascalchi, Samantha R Horn, Gregory W Poorman, Olivia J Bono, Anthony K Frempong-Boadu, Peter G Passias
OBJECTIVE: This is a nationwide query into surgical management techniques for tethered cord syndrome, focusing on patient demographic, hospital characteristics, and treatment outcomes. Our hypothesis is that detethering vs. fusion for TCS results in different in-hospital complications. MATERIALS AND METHODS: Retrospective review of the Nationwide Inpatient Sample 2001-2010. Inclusion: TCS discharges undergoing detethering or fusion. Sub-analysis compared TCS cases by age (pediatric [≤9years] vs...
March 22, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28330998/comparison-of-performance-of-the-2016-acr-eular-classification-criteria-for-primary-sj%C3%A3-gren-s-syndrome-with-other-sets-of-criteria-in-japanese-patients
#2
Hiroto Tsuboi, Shinya Hagiwara, Hiromitsu Asashima, Hiroyuki Takahashi, Tomoya Hirota, Hisashi Noma, Hisanori Umehara, Atsushi Kawakami, Hideki Nakamura, Hajime Sano, Kazuo Tsubota, Yoko Ogawa, Etsuko Takamura, Ichiro Saito, Hiroko Inoue, Seiji Nakamura, Masafumi Moriyama, Tsutomu Takeuchi, Yoshiya Tanaka, Shintaro Hirata, Tsuneyo Mimori, Isao Matsumoto, Takayuki Sumida
OBJECTIVES: To compare the performance of the new 2016 American College of Rheumatology (ACR)-European League Against Rheumatism (EULAR) classification criteria for primary Sjögren's syndrome (SS) with 1999 revised Japanese Ministry of Health criteria for diagnosis of SS (JPN), 2002 American-European Consensus Group classification criteria for SS (AECG) and 2012 ACR classification criteria for SS (ACR) in Japanese patients. METHODS: The study subjects were 499 patients with primary SS (pSS) or suspected pSS who were followed up in June 2012 at 10 hospitals in Japan...
March 22, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28330902/regulation-of-nucleosome-positioning-by-a-chd-type-iii-chromatin-remodeler-and-its-relationship-to-developmental-gene-expression-in-dictyostelium
#3
James L Platt, Nicholas A Kent, Alan R Kimmel, Adrian J Harwood
Nucleosome placement and repositioning can direct transcription of individual genes; however, the precise interactions of these events are complex and largely unresolved at the whole-genome level. The Chromodomain-Helicase-DNA binding (CHD) Type III proteins are a subfamily of SWI2/SNF2 proteins that control nucleosome positioning and are associated with several complex human disorders, including CHARGE syndrome and autism. Type III CHDs are required for multicellular development of animals and Dictyostelium but are absent in plants and yeast...
March 22, 2017: Genome Research
https://www.readbyqxmd.com/read/28317875/chd7-is-indispensable-for-mammalian-brain-development-through-activation-of-a-neuronal-differentiation-programme
#4
Weijun Feng, Daisuke Kawauchi, Huiqin Körkel-Qu, Huan Deng, Elisabeth Serger, Laura Sieber, Jenna Ariel Lieberman, Silvia Jimeno-González, Sander Lambo, Bola S Hanna, Yassin Harim, Malin Jansen, Anna Neuerburg, Olga Friesen, Marc Zuckermann, Vijayanad Rajendran, Jan Gronych, Olivier Ayrault, Andrey Korshunov, David T W Jones, Marcel Kool, Paul A Northcott, Peter Lichter, Felipe Cortés-Ledesma, Stefan M Pfister, Hai-Kun Liu
Mutations in chromatin modifier genes are frequently associated with neurodevelopmental diseases. We herein demonstrate that the chromodomain helicase DNA-binding protein 7 (Chd7), frequently associated with CHARGE syndrome, is indispensable for normal cerebellar development. Genetic inactivation of Chd7 in cerebellar granule neuron progenitors leads to cerebellar hypoplasia in mice, due to the impairment of granule neuron differentiation, induction of apoptosis and abnormal localization of Purkinje cells, which closely recapitulates known clinical features in the cerebella of CHARGE patients...
March 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28293679/research-conference-summary-from-the-2014-international-task-force-on-atp1a3-related-disorders
#5
Hendrik Rosewich, Matthew T Sweney, Suzanne DeBrosse, Kevin Ess, Laurie Ozelius, Eva Andermann, Frederick Andermann, Gene Andrasco, Alice Belgrade, Allison Brashear, Sharon Ciccodicola, Lynn Egan, Alfred L George, Aga Lewelt, Joshua Magelby, Mario Merida, Tara Newcomb, Vicky Platt, Dominic Poncelin, Sandra Reyna, Masayuki Sasaki, Marcio Sotero de Menezes, Kathleen Sweadner, Louis Viollet, Mary Zupanc, Kenneth Silver, Kathryn Swoboda
OBJECTIVE: ATP1A3-related neurologic disorders encompass a broad range of phenotypes that extend well beyond initial phenotypic criteria associated with alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism. METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with ATP1A3-related disorders...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28284305/autodisplay-of-the-la-ssb-protein-on-lps-free-e-coli-for-the-diagnosis-of-sj%C3%A3-gren-s-syndrome
#6
Gu Yoo, Carina Dilkaute, Ji-Hong Bong, Hyun-Woo Song, Misu Lee, Min-Jung Kang, Joachim Jose, Jae-Chul Pyun
The objective of this study was to present an immunoassay for the diagnosis of Sjögren's syndrome based on the autodisplayed La/SSB protein on the outer membrane of intact E. coli (strain UT-5600) and LPS-free E. coli (ClearColi™). As the first step, an autodisplay vector (pCK002) was transfected into intact E. coli and LPS-free E. coli for comparison of efficiency of autdisplay of La/SSB. The maximal level of La/SSB expression was estimated to be similar for LPS-free E. coli and intact E. coli at different optimal induction periods...
May 2017: Enzyme and Microbial Technology
https://www.readbyqxmd.com/read/28263850/laser-capture-micro-dissection-combined-with-next-generation-sequencing-analysis-of-cell-type-specific-deafness-gene-expression-in-the-mouse-cochlea
#7
Shin-Ya Nishio, Yutaka Takumi, Shin-Ichi Usami
Cochlear implantation (CI), which directly stimulates the cochlear nerves, is the most effective and widely used medical intervention for patients with severe to profound sensorineural hearing loss. The etiology of the hearing loss is speculated to have a major influence of CI outcomes, particularly in cases resulting from mutations in genes preferentially expressed in the spiral ganglion region. To elucidate precise gene expression levels in each part of the cochlea, we performed laser-capture micro dissection in combination with next-generation sequencing analysis and determined the expression levels of all known deafness-associated genes in the organ of Corti, spiral ganglion, lateral wall, and spiral limbs...
March 3, 2017: Hearing Research
https://www.readbyqxmd.com/read/28250989/apolipoprotein-c-i-levels-are-associated-with-the-urinary-protein-urinary-creatinine-ratio-in-pediatric-idiopathic-steroid-sensitive-nephrotic-syndrome-a-case-control-study
#8
Jun Odaka, Takahiro Kanai, Takane Ito, Takashi Saito, Jun Aoyagi, Hiroyuki Betsui, Takanori Yamagata
Humoral factors may cause idiopathic steroid-sensitive nephrotic syndrome (ISSNS). In the present study, we analyzed serum proteins using mass spectrometry (MS) to identify proteins associated with the pathophysiology of pediatric ISSNS. We collected serial serum samples from 33 children during each ISSNS phase; Phase A1 is the acute phase prior to steroid treatment (STx), Phase A2 represents the remission period with STx, and Phase A3 represents the remission period after completion of STx. Children with normal urinalyses (Group B) and children with a nephrotic syndrome other than ISSNS (Group C) served as controls...
2017: International Journal of Nephrology
https://www.readbyqxmd.com/read/28246329/permeation-of-macromolecules-into-the-renal-glomerular-basement-membrane-and-capture-by-the-tubules
#9
Marlon G Lawrence, Michael K Altenburg, Ryan Sanford, Julian D Willett, Benjamin Bleasdale, Byron Ballou, Jennifer Wilder, Feng Li, Jeffrey H Miner, Ulla B Berg, Oliver Smithies
How the kidney prevents urinary excretion of plasma proteins continues to be debated. Here, using unfixed whole-mount mouse kidneys, we show that fluorescent-tagged proteins and neutral dextrans permeate into the glomerular basement membrane (GBM), in general agreement with Ogston's 1958 equation describing how permeation into gels is related to molecular size. Electron-microscopic analyses of kidneys fixed seconds to hours after injecting gold-tagged albumin, negatively charged gold nanoparticles, and stable oligoclusters of gold nanoparticles show that permeation into the lamina densa of the GBM is size-sensitive...
March 14, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28244336/characterisation-of-the-nucleic-acid-binding-features-of-the-prrsv-7ap-and-its-ability-to-induce-antinuclear-antibodies
#10
Ferenc Olasz, Béla Dénes, Ádám Bálint, Tibor Magyar, Sándor Belák, Zoltán Zádori
A short alternative open reading frame named ORF7a has recently been discovered within the nucleocapsid gene of the porcine reproductive and respiratory syndrome virus (PRRSV) genome. Proteins (7ap) translated from the ORF7a of two divergent strains - a type I and a type II - are able to completely reduce the motility of nucleic acids at relatively high molar charge ratios in gel retardation assays indicating strong dsDNA- and ssRNA-binding capability. Conserved RNA- and DNA-binding properties suggest that nucleic acid binding is a functional property of the divergent 7aps, and not an arbitrary consequence of their net positive charge...
March 2017: Acta Veterinaria Hungarica
https://www.readbyqxmd.com/read/28242012/national-in-hospital-outcomes-of-pregnancy-in-women-with-single-ventricle-congenital-heart-disease
#11
R Thomas Collins, Di Chang, Adam Sandlin, Anthony Goudie, James M Robbins
Most patients with single ventricle (SV) congenital heart disease are expected to survive to adulthood. Women with SV are often counseled against pregnancy; however, data on pregnancies in these women are lacking. We sought to evaluate in-hospital outcomes of pregnancy in women with SV. We used nationally representative data from the 1998 to 2012 National Inpatient Sample to identify women ≥18 years of age admitted to the hospital with International Classification of Diseases-9th Revision codes for an intrauterine pregnancy and a diagnosis of hypoplastic left heart syndrome, tricuspid atresia, or common ventricle...
April 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28241200/support-for-the-diagnosis-of-charge-syndrome
#12
Conny M A van Ravenswaaij-Arts, Kim Blake, Donna M Martin
No abstract text is available yet for this article.
February 23, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28241177/support-for-the-diagnosis-of-charge-syndrome-reply
#13
Keiko Hirose, Marwan Shinawi
No abstract text is available yet for this article.
February 23, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28176385/financial-and-clinical-outcomes-of-extracorporeal-mechanical-support
#14
Ryan Chiu, Eric Pillado, Sohail Sareh, Kim De La Cruz, Richard J Shemin, Peyman Benharash
BACKGROUND: Over the past decade, extracorporeal mechanical support (ECMO) has been increasingly utilized in respiratory failure and cardiogenic shock. There is a need for assessing clinical and financial outcomes of ECMO use. This study presents our institution's experience with veno-arterial ECMO (VA-ECMO) over a 9-year period. METHODS: A retrospective review of our institution's ECMO database identified patients undergoing VA-ECMO between 2005 and 2013 (N = 150)...
February 8, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28165338/the-chromatin-remodeling-factor-chd7-controls-cerebellar-development-by-regulating-reelin-expression
#15
Danielle E Whittaker, Kimberley L H Riegman, Sahrunizam Kasah, Conor Mohan, Tian Yu, Blanca Pijuan Sala, Husam Hebaishi, Angela Caruso, Ana Claudia Marques, Caterina Michetti, María Eugenia Sanz Smachetti, Apar Shah, Mara Sabbioni, Omer Kulhanci, Wee-Wei Tee, Danny Reinberg, Maria Luisa Scattoni, Holger Volk, Imelda McGonnell, Fiona C Wardle, Cathy Fernandes, M Albert Basson
The mechanisms underlying the neurodevelopmental deficits associated with CHARGE syndrome, which include cerebellar hypoplasia, developmental delay, coordination problems, and autistic features, have not been identified. CHARGE syndrome has been associated with mutations in the gene encoding the ATP-dependent chromatin remodeler CHD7. CHD7 is expressed in neural stem and progenitor cells, but its role in neurogenesis during brain development remains unknown. Here we have shown that deletion of Chd7 from cerebellar granule cell progenitors (GCps) results in reduced GCp proliferation, cerebellar hypoplasia, developmental delay, and motor deficits in mice...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28160409/developing-a-charge-syndrome-checklist-health-supervision-across-the-lifespan-from-head-to-toe
#16
Carrie-Lee Trider, Angela Arra-Robar, Conny van Ravenswaaij-Arts, Kim Blake
Health supervision and management considerations for individuals with CHARGE syndrome are often complex, and a comprehensive approach is essential. The Atlantic Canadian CHARGE syndrome team developed a checklist organized by body system and age to aid healthcare providers in their approach to the ongoing care of these individuals. The checklist was evaluated qualitatively using a modified Delphi method with widespread consultation from expert healthcare practitioners, parents, and individuals with CHARGE syndrome...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28155231/charge-syndrome-gastrointestinal-involvement-from-mouth-to-anus
#17
REVIEW
A Hudson, M Macdonald, J N Friedman, K Blake
CHARGE syndrome is an autosomal dominant disorder that occurs as a result of a heterozygous loss-of-function mutation in the chromodomain helicase DNA-binding (CHD7) gene, which is important for neural crest cell formation. Gastrointestinal (GI) symptoms and feeding difficulties are highly prevalent but are often a neglected area of diagnosis, treatment, and research. Cranial nerve dysfunction, craniofacial abnormalities, and other physical manifestations of this syndrome lead to gut dysmotility, sensory impairment, and oral-motor function abnormalities...
October 13, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/28143957/insights-into-the-pathological-mechanisms-of-p85%C3%AE-mutations-using-a-yeast-based-phosphatydilinositol-3-kinase-model
#18
María D Oliver, Teresa Fernández-Acero, Sandra Luna, Isabel Rodríguez-Escudero, María Molina, Rafael Pulido, Victor J Cid
In higher eukaryotes, cell proliferation is regulated by class I phosphatidylinositol 3-kinase (PI3K), which transduces stimuli received from neighboring receptors by local generation of PtdIns(3,4,5)P3 in cellular membranes. PI3K is a heterodimeric protein consisting of a regulatory and a catalytic subunit (p85 and p110, respectively). Heterologous expression of p110a in S. cerevisiae leads to toxicity by conversion of essential PtdIns(4,5)P2 into futile PtdIns(3,4,5)P3, providing a humanized yeast model for functional studies on this pathway...
January 31, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28128060/proteoglycans-and-diabetes
#19
Linda Hiebert
BACKGROUND: Most proteoglycans are heterogeneous molecules composed of a protein core with glycosaminoglycans (GAGs) attached. GAGs are highly negatively charged molecules that readily bind to enzymes, growth factors, cytokines etc. and as such have many functions. The role played by proteoglycans in diabetes has only recently been investigated. METHODS: The importance of proteoglycans and the effects of diabetes on proteoglycans are discussed. Possible strategies for reducing diabetic complications associated with preventing proteoglycan destruction are examined...
January 25, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28094189/medicaid-payer-status-is-linked-to-increased-rates-of-complications-after-treatment-of-proximal-humerus-fractures
#20
Vani J Sabesan, Graysen Petersen-Fitts, Daniel Lombardo, Daniel Briggs, James Whaley
BACKGROUND: Low socioeconomic status and Medicaid insurance as a primary payer have been associated with major disparities in resource utilization and risk-adjusted outcomes for patients undergoing total joint arthroplasty. With the expansion of Medicaid through the Affordable Care Act in 2014, examination of these disparities has become increasingly relevant for the treatment of proximal humerus fracture (PHF). METHODS: The Healthcare Cost and Utilization Project Nationwide Inpatient Sample database was used to identify patients who were treated for PHF from 2002 to 2012...
January 13, 2017: Journal of Shoulder and Elbow Surgery
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