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https://www.readbyqxmd.com/read/28898267/depolarization-of-the-conductance-voltage-relationship-in-the-nav1-5-mutant-e1784k-is-due-to-altered-fast-inactivation
#1
Colin H Peters, Alec Yu, Wandi Zhu, Jonathan R Silva, Peter C Ruben
E1784K is the most common mixed long QT syndrome/Brugada syndrome mutant in the cardiac voltage-gated sodium channel NaV1.5. E1784K shifts the midpoint of the channel conductance-voltage relationship to more depolarized membrane potentials and accelerates the rate of channel fast inactivation. The depolarizing shift in the midpoint of the conductance curve in E1784K is exacerbated by low extracellular pH. We tested whether the E1784K mutant shifts the channel conductance curve to more depolarized membrane potentials by affecting the channel voltage-sensors...
2017: PloS One
https://www.readbyqxmd.com/read/28887386/fragile-x-mental-retardation-protein-restricts-small-dye-iontophoresis-entry-into-central-neurons
#2
Tyler Kennedy, Kendal Broadie
Fragile X Mental Retardation Protein (FMRP) loss causes Fragile X syndrome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity and seizures. FMRP is both an RNA- and channel-binding regulator, with critical roles in neural circuit formation and function. However, it remains unclear how these FMRP activities relate to each other and how dysfunction in their absence underlies FXS neurological symptoms. In testing circuit level defects in the Drosophila FXS model, we discovered a completely unexpected and highly robust neuronal dye iontophoresis phenotype in the well-mapped Giant Fiber (GF) circuit...
September 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28882352/adult-spinal-deformity-national-trends-in-the-presentation-treatment-and-perioperative-outcomes-from-2003-to-2010
#3
Peter G Passias, Cyrus M Jalai, Nancy Worley, Shaleen Vira, Bryan Marascalchi, Shearwood McClelland, Virginie Lafage, Thomas J Errico
STUDY DESIGN: Retrospective review of a prospective database. OBJECTIVES: To investigate adult spinal deformity (ASD) surgery outcome trends on a nationwide scale using the Nationwide Inpatient Sample (NIS) from 2003 to 2010. METHODS: ASD patients ≥25 years from 2003 to 2010 in the NIS undergoing anterior, posterior, or combined surgical approaches were included. Fractures, 9+ levels fused, or any cancer were excluded. Patient demographics, hospital data, and procedure-related complications were evaluated...
September 2017: Spine Deformity
https://www.readbyqxmd.com/read/28881492/a-novel-elane-mutation-associated-with-inflammatory-arthritis-defective-netosis-and-recurrent-parvoviral-infection
#4
Uma Thanarajasingam, Mark A Jensen, Jessica M Dorschner, Theresa Wampler Muskardin, Yogita Ghodke-Puranik, Monica Purmalek, Elias Eliopoulos, Maria I Zervou, George N Goulielmos, Matthew Howard, Mariana J Kaplan, Timothy B Niewold
OBJECTIVE: We describe a 38-year-old woman presenting with a history of inflammatory arthritis, rash and daily fevers. She was noted to have chronic parvoviral infection with persistently detectable viral titers and a novel mutation in the ELANE gene. ELANE encodes neutrophil elastase, a neutrophil serine protease with important antimicrobial effects and is found as part of neutrophil extracellular trap (NET) complexes. Pathogenic ELANE mutations have been described in forms of hereditary neutropenia...
September 7, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28862395/phelan-mcdermid-syndrome-data-network-integrating-patient-reported-outcomes-with-clinical-notes-and-curated-genetic-reports
#5
Cartik Kothari, Maxime Wack, Claire Hassen-Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn...
September 1, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28853421/obstructive-sleep-apnea-syndrome-osas-occupational-health-and-other-medical-disciplines-facing-the-problem
#6
Giovanni Costa, Michele De Benedetto
Obstructive Sleep Apnea Syndrome (OSAS) is one of the most common causes of excessive daytime sleepiness, therefore an important determinant of road and work accidents, as well as being associated with multiple chronic-degenerative diseases. The recent transposition of the European Commission Directive 2014/85/EU on driver licensing highlighted the need to tackle the problem appropriately, not only for its high prevalence in the general population, but also for its significant impact on occupational safety and health, and related social costs...
August 28, 2017: La Medicina del Lavoro
https://www.readbyqxmd.com/read/28853341/my-daughter-s-nurse-gave-our-family-truly-personalised-kind-care
#7
(no author information available yet)
Jo O'Toole was the specialist respiratory nurse for our daughter Amélie, who has CHARGE syndrome, for several years. She gave us truly personalised and kind care.
August 30, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28833556/over-expression-of-p53-explains-isotretinoin-s-teratogenicity
#8
Bodo C Melnik
The precise molecular basis of retinoid embryopathy is yet unknown. This hypothesis predicts that isotretinoin (13-cis retinoic acid), the prodrug of all-trans retinoic acid (ATRA), exaggerates neural crest cell (NCC) apoptosis via upregulation of the pro-apoptotic transcription factor p53, the guardian of the genome. Increased p53 signaling is associated with Treacher Collins-, CHARGE-, and fetal alcohol syndrome, which exhibit dysmorphic craniofacial features resembling retinoid embryopathy. In addition, developmental studies of NCC homeostasis in the zebrafish support the pivotal role of p53...
August 20, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28780310/outcome-of-neonates-with-gastroschisis-at-different-gestational-ages-using-a-national-database
#9
Ruby Gupta, Erwin T Cabacungan
BACKGROUND/PURPOSE: The optimal time for delivery of neonates with a prenatal diagnosis of gastroschisis (GS) is controversial. We compared the outcomes for GS at three different gestational ages (GAs), 33-34 weeks, 35-36 weeks, and ≥ 37 weeks. METHODS: We analyze hospital discharge data of neonates with GS using the 2006, 2009 and 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database (HCUPKIDS). Multivariable analysis was used to compare the association between GS outcomes and the three GAs...
July 22, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28777229/the-modified-rambo-transcanal-approach-for-cochlear-implantation-in-charge-syndrome
#10
Cameron C Wick, Amy M Moore, Daniel E Killeen, Brandon Isaacson
OBJECTIVE: CHARGE syndrome is associated with a variety of temporal bone anomalies and deafness. The lack of surgical landmarks and facial nerve irregularities make cochlear implantation in this population a challenging endeavor. This study aims to describe a safe and efficacious transcanal approach for cochlear implantation that obviates the need to perform a mastoidectomy and facial recess. PATIENTS: Three children with profound hearing loss secondary to CHARGE syndrome...
October 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28762292/tonsillectomy-in-children-with-down-syndrome-a-national-cohort-of-inpatients
#11
Andrew B Baker, Zachary Farhood, Kathleen A Brandstetter, Ronald J Teufel, Angela LaRosa, David R White
Objective To describe the cost, length of stay, and incidence of postoperative hemorrhage associated with Down syndrome (DS) patients undergoing tonsillectomy in a national sample of inpatient children. Study Design This study uses a national cross-sectional cohort to analyze children with and without DS undergoing tonsillectomy with or without adenoidectomy. Setting 2012 Healthcare Cost and Utilization Project Kids' Inpatient Database. Subjects and Methods The database was analyzed for postoperative hemorrhage and respiratory compromise, length of stay, and total charges of hospital stay...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28739325/d242n-a-kv7-1-lqts-mutation-uncovers-a-key-residue-for-iks-voltage-dependence
#12
Cristina Moreno, Anna Oliveras, Chiara Bartolucci, Carmen Muñoz, Alicia de la Cruz, Diego A Peraza, Juan R Gimeno, Mercedes Martín-Martínez, Stefano Severi, Antonio Felipe, Pier D Lambiase, Teresa Gonzalez, Carmen Valenzuela
KV7.1 and KCNE1 co-assemble to give rise to the IKs current, one of the most important repolarizing currents of the cardiac action potential. Its relevance is underscored by the identification of >500 mutations in KV7.1 and, at least, 36 in KCNE1, that cause Long QT Syndrome (LQTS). The aim of this study was to characterize the biophysical and cellular consequences of the D242N KV7.1 mutation associated with the LQTS. The mutation is located in the S4 transmembrane segment, within the voltage sensor of the KV7...
July 22, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#13
M J Hoch, S H Patel, D Jethanamest, W Win, G M Fatterpekar, J T Roland, M Hagiwara
Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging. A retrospective review of 10 patients with CHARGE syndrome who underwent MR imaging of the brain as part of a preoperative evaluation for cochlear implantation was conducted. Structural abnormalities of the entire MR imaging of the head were evaluated, including the auditory system, olfactory system, face, skull base, and central nervous system...
July 13, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28705304/clinical-practice-of-acute-respiratory-distress-syndrome-in-japan-a-nationwide-survey-and-scientific-evidences
#14
Sadatomo Tasaka, Koichiro Tatsumi
BACKGROUND: There has been limited information about epidemiology and clinical practice of acute respiratory distress syndrome (ARDS) in Japan. METHODS: An invitation letter to the web-based survey was mailed to all 871 board certified hospitals of the Japanese Respiratory Society. The questionnaires were designed to collect data on epidemiology and clinical practice of ARDS, including diagnostic measures and therapeutics. RESULTS: Within 4 months of the survey period, valid responses were obtained from 296 (34%) hospitals...
July 2017: Respiratory Investigation
https://www.readbyqxmd.com/read/28691782/a-novel-microduplication-of-arid1b-clinical-genetic-and-proteomic-findings
#15
Catarina M Seabra, Nicholas Szoko, Serkan Erdin, Ashok Ragavendran, Alexei Stortchevoi, Patrícia Maciel, Kathleen Lundberg, Daniela Schlatzer, Janice Smith, Michael E Talkowski, James F Gusella, Marvin R Natowicz
Genetic alterations of ARID1B have been recently recognized as one of the most common mendelian causes of intellectual disability and are associated with both syndromic and non-syndromic phenotypes. The ARID1B protein, a subunit of the chromatin remodeling complex SWI/SNF-A, is involved in the regulation of transcription and multiple downstream cellular processes. We report here the clinical, genetic, and proteomic phenotypes of an individual with a unique apparent de novo mutation of ARID1B due to an intragenic duplication...
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28682317/a-management-strategy-that-reduces-nicu-admissions-and-decreases-charges-from-the-front-line-of-the-neonatal-abstinence-syndrome-epidemic
#16
S Loudin, J Werthammer, L Prunty, S Murray, J I Shapiro, T H Davies
OBJECTIVE: The purpose of this study was to test a specialized needs-based management model for a high volume of babies born with neonatal abstinence syndrome (NAS) while controlling costs and reducing neonatal intensive care unit (NICU) bed usage. STUDY DESIGN: Data were analyzed from inborn neonates >35 weeks' gestational age with the diagnosis of NAS (ICD9-CM 779.5), requiring pharmacologic treatment and discharged from 2010 through 2015. Significance was determined using Kruskal-Wallis and Mann-Whitney as well as χ(2) for trend...
July 6, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28676694/resonant-dipolar-coupling-of-microwaves-with-confined-acoustic-vibrations-in-a-rod-shaped-virus
#17
Chi-Kuang Sun, Yi-Chun Tsai, Yi-Jan E Chen, Tzu-Ming Liu, Hui-Yuan Chen, Han-Ching Wang, Chu-Fang Lo
In this letter, we treat a rod-shaped virus as a free homogenous nanorod and identify its confined acoustic vibration modes that can cause strong resonant microwave absorption through electric dipolar excitation with a core-shell charge distribution. They are found to be the n = 4N-2 modes of the longitudinal modes of the nanorods, where N is an integer starting from 1 and n is the mode order quantum number. This study was confirmed by measuring the microwave absorption spectra of white spot syndrome virus (WSSV), which is a rod-shaped virus...
July 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28675565/compound-heterozygosity-for-loss-of-function-gars-variants-results-in-a-multisystem-developmental-syndrome-that-includes-severe-growth-retardation
#18
Stephanie N Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, Gretchen Golas, Thomas C Markello, David R Adams, Camilo Toro, Andrea L Gropman, Ya-Ming Hou, May Christine V Malicdan, William A Gahl, Cynthia J Tifft, Anthony Antonellis
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes that ligate amino acids onto tRNA molecules. Genes encoding ARSs have been implicated in myriad dominant and recessive disease phenotypes. Glycyl-tRNA synthetase (GARS) is a bifunctional ARS that charges tRNA(Gly) in the cytoplasm and mitochondria. GARS variants have been associated with dominant Charcot-Marie-Tooth disease but have not been convincingly implicated in recessive phenotypes. Here, we describe a patient from the NIH Undiagnosed Diseases Program with a multisystem, developmental phenotype...
October 2017: Human Mutation
https://www.readbyqxmd.com/read/28666963/a-novel-kcna1-mutation-in-a-patient-with-paroxysmal-ataxia-myokymia-painful-contractures-and-metabolic-dysfunctions
#19
Paola Imbrici, Concetta Altamura, Francesca Gualandi, Giuseppe Felice Mangiatordi, Marcella Neri, Giovanni De Maria, Alessandra Ferlini, Alessandro Padovani, Maria Cristina D'Adamo, Orazio Nicolotti, Mauro Pessia, Diana Conte, Massimiliano Filosto, Jean-Francois Desaphy
Episodic ataxia type 1 (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue. This rare disease is caused by missense mutations in the KCNA1 gene coding for the neuronal voltage gated potassium channel Kv1.1, which contributes to nerve cell excitability in the cerebellum, hippocampus, cortex and peripheral nervous system. We identified a novel KCNA1 mutation, E283K, in an Italian proband presenting with paroxysmal ataxia and myokymia aggravated by painful contractures and metabolic dysfunctions...
June 28, 2017: Molecular and Cellular Neurosciences
https://www.readbyqxmd.com/read/28666947/treatment-with-biologic-agents-has-not-reduced-surgeries-among-patients-with-crohn-s-disease-with-short-bowel-syndrome
#20
Berkeley N Limketkai, Alyssa M Parian, Po-Hung Chen, Jean-Fréderic Colombel
BACKGROUND & AIMS: Little is known about the effects of biologic agents used to treat Crohn's disease (CD) on its long-term complications, such as short bowel syndrome and intestinal failure (SBS-IF). We evaluated trends in small bowel resections and health care utilization among patients with CD with and without SBS-IF. METHODS: We collected data on the National Inpatient Sample on 2,989,185 patients hospitalized with CD in the United States before the time period in which CD was treated with biologic agents (1993 through 1997) and after biologic therapy became widespread (1998 through 2014)...
June 27, 2017: Clinical Gastroenterology and Hepatology
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