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https://www.readbyqxmd.com/read/28739325/d242n-a-kv7-1-lqts-mutation-uncovers-a-key-residue-for-iks-voltage-dependence
#1
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 21, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28705814/head-and-neck-mri-findings-in-charge-syndrome
#2
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
#3
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
#4
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...
July 10, 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
#5
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
#6
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
#7
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...
July 4, 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
#8
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
#9
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
https://www.readbyqxmd.com/read/28657954/outcomes-and-time-to-emergence-of-auditory-skills-after-cochlear-implantation-of-children-with-charge-syndrome
#10
Nancy M Young, Elizabeth Tournis, Jenelle Sandy, Stephen R Hoff, Maura Ryan
OBJECTIVE: Review perioperative complications, benefits, and the timeframe over which auditory skills develop in children with CHARGE syndrome who receive a cochlear implant (CI). STUDY DESIGN: IRB-approved retrospective chart review of children with CHARGE syndrome who had at least 12 months of cochlear implant use. SETTING: Tertiary care children's hospital. PATIENTS: Twelve children, seven males and five females. Mean age implant = 3...
June 27, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28652565/ketoacidosis-in-neonatal-diabetes-mellitus-part-of-wolcott-rallison-syndrome
#11
Poorna Gopal Azad Sreeramaneni, Subba Rao V Ambula
BACKGROUND Neonatal diabetes mellitus is a rare condition and it is important to differentiate it from other causes, such as hyperglycemia in infancy, for better outcomes. We report a case of an infant who presented to our neonatal intensive care unit in ketoacidosis and a comatose state. CASE REPORT Our case was an infant who presented to the neonatal intensive care unit at 38 days of age in ketoacidosis. The female infant, born to consanguineous parents (first cousins), weighing 2,300 grams at birth, presented with extreme dehydration and pale skin...
June 27, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28644930/trends-in-open-and-endoscopic-cubital-tunnel-release-in-the-medicare-patient-population
#12
Tsun Yee Law, Zachary S Hubbard, Lee Onn Chieng, Harvey W Chim
BACKGROUND: Cubital tunnel syndrome (CUT) is the second most common peripheral neuropathy with an annual incidence of 24.7 per 100 000, affecting nearly twice as many men as women. With increasing focus on cost-effectiveness and cost-containment in medicine, a critical understanding of utilization of health care resources for open and endoscopic approaches for cubital tunnel release is of value. The purpose of this study was to evaluate the costs and utilization trends of open and endoscopic cubital tunnel release...
July 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28634518/role-of-albumin-in-cirrhosis-from-a-hospitalist-s-perspective
#13
REVIEW
Saqib Walayat, Daniel Martin, Jaymon Patel, Umair Ahmed, Muhammad N Asghar, Aparna U Pai, Sonu Dhillon
Albumin, a negatively charged globular protein encoded on chromosome 4, is one of the most abundant proteins in the plasma and accounts for approximately 75% of plasma oncotic pressure. The role of albumin in the management of various disease states has shown to be beneficial historically. Low serum albumin is a predictor of mortality and poor outcomes. In cirrhotics undergoing paracentesis, albumin infusion prevents rapid re-accumulation of ascitic fluid while simultaneously decreasing the risk of post-paracentesis related circulatory dysfunction...
January 2017: Journal of Community Hospital Internal Medicine Perspectives
https://www.readbyqxmd.com/read/28628050/arizona-hospital-discharge-and-emergency-department-database-implications-for-occupational-health-surveillance
#14
Philip Harber, Jennifer Ha, Matthew Roach
OBJECTIVES: The objective of the project was to identify trends in emergency department visits and inpatient admissions for occupational injury and disease frequency and describe the financial impact from specific clinical groups known to have occupational risk factors. METHODS: Workers compensation cases among 19 million records in the Arizona statewide hospital discharge database (HDD) were assessed for seven clinical groups from 2008 to 2014, including back, cardiac, carpal tunnel syndrome, heat-related, psychiatric, pulmonary, and trauma...
April 2017: Journal of Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/28624065/trends-in-open-and-endoscopic-carpal-tunnel-release-utilization-in-the-medicare-patient-population
#15
Tsun Yee Law, Samuel Rosas, Zachary S Hubbard, Lee Onn Chieng, Harvey W Chim
BACKGROUND: Surgical management of carpal tunnel syndrome (CTS) is performed with an open or endoscopic approach. Current literature suggests that the endoscopic approach is associated with higher costs and a steeper learning curve. This study evaluated the billing and utilization trends of both approaches. METHODS: A retrospective review of a Medicare database within the PearlDiver Supercomputer (Warsaw, IN) was performed for patients undergoing open carpal tunnel release (OCTR) or endoscopic carpal tunnel release (ECTR) from 2005-2012...
June 15, 2017: Journal of Surgical Research
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#16
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28616537/congenital-arch-vessel-anomalies-in-charge-syndrome-a-frequent-feature-with-risk-for-co-morbidity
#17
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
BACKGROUND: CHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects - including arch vessel anomalies. METHODS AND RESULTS: We report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28612362/the-economic-burden-of-neonatal-abstinence-syndrome-in-the-united-states
#18
Tammy E Corr, Christopher S Hollenbeak
BACKGROUND AND AIMS: While hospital charges related to neonatal abstinence syndrome (NAS) have increased recently, there are no data available regarding costs. Therefore, we sought to describe the NAS population and compare with the non-NAS population, determine the incidence of NAS in the United States and estimate the total annual costs and hospital days of NAS admissions, and estimate the incremental costs and length of stay of an NAS admission compared with a non-NAS admission. DESIGN: Retrospective, observational study...
June 13, 2017: Addiction
https://www.readbyqxmd.com/read/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#19
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
August 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#20
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Esophageal atresia (EA) is a common type of congenital anomaly. The etiology of esophageal atresia is unclear and its pathogenesis is controversial. Infants with esophageal atresia often have other non-EA associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in cases with EA were collected in all livebirths, stillbirths, and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations...
June 3, 2017: American Journal of Medical Genetics. Part A
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