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https://www.readbyqxmd.com/read/28644930/trends-in-open-and-endoscopic-cubital-tunnel-release-in-the-medicare-patient-population
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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...
June 12, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28577344/associated-anomalies-in-cases-with-esophageal-atresia
#9
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
https://www.readbyqxmd.com/read/28550190/patient-derived-anti-%C3%AE-2gp1-antibodies-recognize-a-peptide-motif-pattern-and-not-a-specific-sequence-of-residues
#10
Philippe de Moerloose, Céline Fickentscher, Françoise Boehlen, Jean-Marie Tiercy, Egbert K O Kruithof, Karim J Brandt
Antiphospholipid antibody syndrome is an autoimmune disease characterized by the presence of so-called antiphospholipid antibodies and clinical manifestations such as recurrent thromboembolic or pregnancy complications. Although the main antigenic determinant for antiphospholipid antibodies has been identified as the beta-2-glycoprotein 1 (β2GP1), the precise epitope recognized by antiphospholipid antibodies still remains largely unknown. In the present study, we wanted to identify a sequence in the domain I of β2GP1 able to induce the proliferation of CD4+ T cells isolated from antiphospholipid antibody syndrome patients but not from healthy donors and to interact with antiphospholipid antibodies...
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28538268/etiological-factors-of-chronic-hepatitis-in-italy-a-2014-national-survey
#11
Tommaso Stroffolini, Evangelista Sagnelli, Piero L Almasio, Angelo Andriulli, Antonina Smedile, Mario Pirisi, Caterina Sagnelli, Maurizio Russello, Nicola Coppola, Massimo de Luca, Mariantonietta Pisaturo, Floriano Rosina, Giovanni B Gaeta
BACKGROUND: The last Italian prevalence survey on chronic hepatitis (CH) conducted in 2001 showed that the hepatitis C virus (HCV) was the main agent associated with CH. AIM: The aim of this study was to evaluate epidemiological changes in CH occurring after 13 years. PATIENTS AND METHODS: Enrollment of 1392 CH consecutive patients referred to 16 Italian liver units in 2014 scattered all over the country (four in the North, four in the Center, four in the South, and four in the Islands) was performed...
May 19, 2017: European Journal of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28535153/high-energy-particle-beam-and-gamma-radiation-exposure-familial-relatedness-and-cancer-in-mice
#12
Pavel Chernyavskiy, Elijah F Edmondson, Michael M Weil, Mark P Little
BACKGROUND: Some highly penetrant familial cancer syndromes exhibit elevated leukaemia risk, and there is evidence for familial clustering of lung cancer and other common cancers. Lung cancer and leukaemia are strongly radiogenic, but there are few indications that high-energy beam irradiation is markedly more effective than lower-energy radiation. METHODS: We used a Cox model with familially structured random effects to assess 16 mortality end points in a group of 1850 mice in 47 families maintained in a circular-breeding scheme, exposed to accelerated Si or Fe ions (0...
May 23, 2017: British Journal of Cancer
https://www.readbyqxmd.com/read/28533432/the-atp-dependent-chromatin-remodeling-enzymes-chd6-chd7-and-chd8-exhibit-distinct-nucleosome-binding-and-remodeling-activities
#13
Benjamin J Manning, Timur Yusufzai
Proper chromatin regulation is central to genome function and maintenance. The group III CHD family of ATP-dependent chromatin remodeling enzymes--comprising CHD6, CHD7, CHD8, and CHD9--has well-documented roles in transcription regulation impacting both organism development and disease etiology. These four enzymes are similar in their constituent domains, yet these enzymes fill surprisingly non-redundant roles in the cell, with deficiencies in individual enzymes leading to dissimilar disease states such as CHARGE syndrome or autism spectrum disorders...
May 21, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28525196/-burnout-syndrome-among-generalist-medical-doctors-of-douala-region-cameroon-can-physical-activities-be-a-protective-factor
#14
S H Mandengue, L J Owona Manga, M Y Lobè-Tanga, P B Assomo-Ndemba, S Nsongan-Bahebege, C Bika-Lélé, F Ngo Sack, A K Njamnshi, S L Etoundi-Ngoa
BACKGROUND: This study aimed to evaluate and document the importance of Burnout syndrome among generalist medical doctors (GMD) since no investigation have been carried in Cameroon. METHODS: Cross-sectional study including 85 GMD using a self-administered questionnaire on socio-demographic characteristics, socioprofessional conditions, Maslach Burnout Inventory - Human Services Survey (MBI-HSS) to evaluate burnout, and Ricci-Gagnon physical activities level metrics...
2017: Revue Médicale de Bruxelles
https://www.readbyqxmd.com/read/28502583/homozygous-ednrb-mutation-in-a-patient-with-waardenburg-syndrome-type-1
#15
Noriko Morimoto, Hideki Mutai, Kazunori Namba, Hiroki Kaneko, Rika Kosaki, Tatsuo Matsunaga
OBJECTIVE: To examine and expand the genetic spectrum of Waardenburg syndrome type 1 (WS1). METHODS: Clinical features related to Waardenburg syndrome (WS) were examined in a five-year old patient. Mutation analysis of genes related to WS was performed in the proband and her parents. Molecular modeling of EDNRB and the p.R319W mutant was conducted to predict the pathogenicity of the mutation. RESULTS: The proband showed sensorineural hearing loss, heterochromia iridis, and dystopia canthorum, fulfilling the clinical criteria of WS1...
May 11, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28479750/serum-protein-profile-in-women-with-pregnancy-morbidity-associated-with-antiphospholipid-syndrome
#16
Angela M Alvarez, Stefan Neubeck, Sergio Parra, Udo R Markert, Angela P Cadavid
CONTEXT: Antiphospholipid antibodies (aPL) are related with a high risk of pregnancy morbidity (PM) and also of vascular thrombosis. On the basis of recent studies, we expect that in women with PM associated with antiphospholipid syndrome (APS), further factors may be deregulated and involved in pathophysiology of the disease. Such factors may have the potential to become novel biomarkers for APS and its stages. SETTINGS AND DESIGN: Descriptive study from a recurrent pregnancy loss program...
January 2017: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28477385/in-vitro-recapitulation-of-the-site-specific-editing-to-wild-type-of-mutant-ids-mrna-transcripts-and-the-characterization-of-ids-protein-translated-from-the-edited-mrnas
#17
Susanna Lualdi, Genny Del Zotto, Olga Zegarra-Moran, Nicoletta Pedemonte, Fabio Corsolini, Maurizio Bruschi, Valeria Tomati, Giulia Amico, Giovanni Candiano, Andrea Dardis, David N Cooper, Mirella Filocamo
The transfer of genomic information into the primary RNA sequence can be altered by RNA editing. We have previously shown that genomic variants can be RNA-edited to wild-type. The presence of distinct "edited" iduronate 2-sulfatase (IDS) mRNA transcripts ex vivo evidenced the correction of a nonsense and frameshift variant, respectively, in three unrelated Hunter syndrome patients. This phenomenon was confirmed in various patient samples by a variety of techniques, and was quantified by single-nucleotide primer extension...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28475860/charge-and-kabuki-syndromes-gene-specific-dna-methylation-signatures-identify-epigenetic-mechanisms-linking-these-clinically-overlapping-conditions
#18
Darci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, Michelle T Siu, Michal Inbar-Feigenberg, Roberto Mendoza-Londono, David Chitayat, Susan Walker, Jerry Machado, Oana Caluseriu, Lucie Dupuis, Daria Grafodatskaya, William Reardon, Brigitte Gilbert-Dussardier, Alain Verloes, Frederic Bilan, Jeff M Milunsky, Raveen Basran, Blake Papsin, Tracy L Stockley, Stephen W Scherer, Sanaa Choufani, Michael Brudno, Rosanna Weksberg
Epigenetic dysregulation has emerged as a recurring mechanism in the etiology of neurodevelopmental disorders. Two such disorders, CHARGE and Kabuki syndromes, result from loss of function mutations in chromodomain helicase DNA-binding protein 7 (CHD7(LOF)) and lysine (K) methyltransferase 2D (KMT2D(LOF)), respectively. Although these two syndromes are clinically distinct, there is significant phenotypic overlap. We therefore expected that epigenetically driven developmental pathways regulated by CHD7 and KMT2D would overlap and that DNA methylation (DNAm) alterations downstream of the mutations in these genes would identify common target genes, elucidating a mechanistic link between these two conditions, as well as specific target genes for each disorder...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28475857/mutations-in-epigenetic-regulation-genes-are-a-major-cause-of-overgrowth-with-intellectual-disability
#19
Katrina Tatton-Brown, Chey Loveday, Shawn Yost, Matthew Clarke, Emma Ramsay, Anna Zachariou, Anna Elliott, Harriet Wylie, Anna Ardissone, Olaf Rittinger, Fiona Stewart, I Karen Temple, Trevor Cole, Shazia Mahamdallie, Sheila Seal, Elise Ruark, Nazneen Rahman
To explore the genetic architecture of human overgrowth syndromes and human growth control, we performed experimental and bioinformatic analyses of 710 individuals with overgrowth (height and/or head circumference ≥+2 SD) and intellectual disability (OGID). We identified a causal mutation in 1 of 14 genes in 50% (353/710). This includes HIST1H1E, encoding histone H1.4, which has not been associated with a developmental disorder previously. The pathogenic HIST1H1E mutations are predicted to result in a product that is less effective in neutralizing negatively charged linker DNA because it has a reduced net charge, and in DNA binding and protein-protein interactions because key residues are truncated...
May 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28475479/risk-of-hemorrhagic-transformation-after-ischemic-stroke-in-patients-with-antiphospholipid-antibody-syndrome
#20
Tapan Mehta, Mohammed Hussain, Khushboo Sheth, Yuchuan Ding, Louise D McCullough
BACKGROUND AND PURPOSE: Several rheumatologic conditions including systemic lupus erythematosus, antiphospholipid antibody (APS) syndrome, rheumatoid arthritis, and scleroderma are known risk factors for stroke. The risk of hemorrhagic transformation after an acute ischemic stroke (AIS) in these patients is not known. METHODS: We queried the Nationwide Inpatient Sample (NIS) data between 2010 and 2012 with ICD 9 diagnostic codes for AIS. The primary outcome was the development of hemorrhagic transformation...
June 2017: Neurological Research
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