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https://www.readbyqxmd.com/read/28538268/etiological-factors-of-chronic-hepatitis-in-italy-a-2014-national-survey
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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-characterization-of-ids-protein-translated-from-the-edited-mrnas
#7
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' 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 quantified by single nucleotide primer extension. Western blotting also confirmed the presence of IDS protein similar in size to the wild-type...
May 6, 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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28461801/a-rare-case-of-vascular-ring-and-coarctation-of-the-aorta-in-association-with-charge-syndrome
#11
Jonathan B Wagner, Joshua Q Knowlton, Peter Pastuszko, Sanket S Shah
A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and development Retardation, Genitourinary disorders, and Ear anomalies and deafness. Moreover, he had a rare case of vascular ring-consisting of a right aortic arch with retroesophageal brachiocephalic artery-combined with coarctation of the mid-aortic arch. He underwent both vascular ring and aortic arch repair at our institution. To our knowledge, this is the 4th documented case of this exceedingly rare type of aortic arch anomaly combined with aortic arch obstruction...
April 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28456676/early-intervention-in-cauda-equina-syndrome-associated-with-better-outcomes-a-myth-or-reality-insights-from-the-nationwide-inpatient-sample-database-2005-2011
#12
Jai Deep Thakur, Christopher Storey, Piyush Kalakoti, Osama Ahmed, Rimal H Dossani, Richard P Menger, Kanika Sharma, Hai Sun, Anil Nanda
BACKGROUND CONTEXT: Evidence-based consensus on timing to surgical decompression following symptom onset in patients with cauda equine syndrome (CES) is limited or widely debated. PURPOSE: To investigate timing to intervention in management of patients with CES impacts outcomes. STUDY DESIGN/SETTING: Retrospective cohort study. PATIENT SAMPLE: 4,066 adult patients with CES registered in the Nationwide Inpatient Sample (NIS) database (2005-2011) and undergoing elective decompression surgery...
April 26, 2017: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/28430046/an-outpatient-methadone-weaning-program-by-a-neonatal-intensive-care-unit-for-neonatal-abstinence-syndrome
#13
Andrew Lai, Patrick Philpot, Jenny Boucher, Andrew Meyer
Through retrospective chart review, this study described characteristics and length of stay for a cohort of newborns discharged on methadone following an inpatient weaning for neonatal abstinence syndrome (NAS). Data were assessed for all term infants born between January 1, 2010, and December 31, 2014, admitted to the hospital with a co-diagnosis of NAS at discharge, for gestational age, length of stay, days on treatment protocol before discharge, time to once-daily interval methadone dosing, and hospital charges, as well as for categorical characteristics...
April 21, 2017: Population Health Management
https://www.readbyqxmd.com/read/28423388/a-national-study-of-the-effect-of-race-socioeconomic-status-and-gender-on-burn-outcomes
#14
Hala Bedri, Kathleen S Romanowski, Junlin Liao, Ghassan Al-Ramahi, Jason Heard, Thomas Granchi, Lucy Wibbenmeyer
Age, burn size, and inhalation injury are the major contributing variables related to burn mortality. While the female gender has been linked to higher mortality, the impact of socioeconomic status has not been well studied. The interplay between these three factors is also unknown. This study sought to clarify the effects of these variables on outcomes in a national sample of patients with burns. A retrospective review of 172,640 patient records of the National Burn Repository (version 8, 2002-2011) data was conducted...
May 2017: Journal of Burn Care & Research: Official Publication of the American Burn Association
https://www.readbyqxmd.com/read/28409699/potential-for-medicaid-savings-a-state-and-national-comparison-of-an-innovative-neonatal-abstinence-syndrome-treatment-model
#15
Lori Dickes, Julie Summey, Rachel Mayo, Jennifer Hudson, Windsor Westbrook Sherrill, Liwei Chen
In recent years, neonatal abstinence syndrome (NAS) rates have increased rapidly across the United States, rising from 1.2 (2000) to 5.8 (2012) per 1000 hospital births annually. Because most NAS infants are treated in an intensive care setting, associated hospital charges are high and continue to escalate, rising on average from $39,400 in 2000 to $66,700 in 2012. An innovative NAS treatment program, which includes early-initiated methadone therapy, rooming-in, and combined inpatient/outpatient weaning in a low-acuity nursery, has been in place since 2003 at a large Southeastern hospital...
April 14, 2017: Population Health Management
https://www.readbyqxmd.com/read/28400221/validation-of-a-self-monitoring-tool-for-use-in-exercise-therapy
#16
Camilla S Powierza, Michael D Clark, Jaime M Hughes, Kevin A Carneiro, Jason P Mihalik
BACKGROUND: Aerobic exercise at a subsymptom heart rate has been recommended as therapy for postconcussion syndrome. Assessing adherence with an accurate heart rate-monitoring instrument is difficult, limiting the proliferation of large-scale randomized controlled trials. OBJECTIVE: To evaluate the validity of the Fitbit Charge HR compared with electrocardiogram (EKG) to monitor heart rate during a treadmill-based exercise protocol. DESIGN: A methods comparison study...
April 9, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28394582/multiplex-paper-based-colorimetric-dna-sensor-using-pyrrolidinyl-peptide-nucleic-acid-induced-agnps-aggregation-for-detecting-mers-cov-mtb-and-hpv-oligonucleotides
#17
Prinjaporn Teengam, Weena Siangproh, Adisorn Tuantranont, Tirayut Vilaivan, Orawon Chailapakul, Charles S Henry
The development of simple fluorescent and colorimetric assays that enable point-of-care DNA and RNA detection has been a topic of significant research because of the utility of such assays in resource limited settings. The most common motifs utilize hybridization to a complementary detection strand coupled with a sensitive reporter molecule. Here, a paper-based colorimetric assay for DNA detection based on pyrrolidinyl peptide nucleic acid (acpcPNA)-induced nanoparticle aggregation is reported as an alternative to traditional colorimetric approaches...
April 27, 2017: Analytical Chemistry
https://www.readbyqxmd.com/read/28392261/bound-waters-mediate-binding-of-diverse-substrates-to-a-ubiquitin-ligase
#18
Juliana Muñoz-Escobar, Edna Matta-Camacho, Cordelia Cho, Guennadi Kozlov, Kalle Gehring
The N-end rule pathway controls the half-life of proteins based on their N-terminal residue. Positively charged type 1 N-degrons are recognized by a negatively charged pocket on the Zn finger named the UBR box. Here, we show that the UBR box is rigid, but bound water molecules in the pocket provide the structural plasticity required to bind different positively charged amino acids. Ultra-high-resolution crystal structures of arginine, histidine, and methylated arginine reveal that water molecules mediate the binding of N-degron peptides...
May 2, 2017: Structure
https://www.readbyqxmd.com/read/28379451/detection-of-genetic-loci-associated-with-plasma-fetuin-a-a-meta-analysis-of-genome-wide-association-studies-from-the-charge-consortium
#19
Majken K Jensen, Richard A Jensen, Kenneth J Mukamal, Xiuqing Guo, Jie Yao, Qi Sun, Marilyn Cornelis, Yongmei Liu, Ming-Huei Chen, Jorge R Kizer, Luc Djoussé, David S Siscovick, Bruce M Psaty, Joseph M Zmuda, Jerome I Rotter, Melissa Garcia, Tamara Harris, Ida Chen, Mark O Goodarzi, Michael A Nalls, Margaux Keller, Alice M Arnold, Anne B Newman, Ron C Hoogeveen, Kathryn M Rexrode, Eric B Rimm, Frank B Hu, Vasan S Ramachandran, Ronit Katz, James S Pankow, Joachim H Ix
Plasma fetuin-A is associated with type 2 diabetes, and AHSG, the gene encoding fetuin-A, has been identified as a susceptibility locus for diabetes and metabolic syndrome. Thus far, unbiased investigations of the genetic determinants of plasma fetuin-A concentrations have not been conducted. We searched for single nucleotide polymorphisms (SNPs) related to fetuin-A concentrations by a genome-wide association study in six population-based studies. We examined the association of fetuin-A levels with ∼ 2...
June 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28372457/meckel%C3%A2-s-diverticulum-bleeding-detected-by-capsule-endoscopy
#20
José Francisco Juanmartiñena Fernández, Iñaki Fernández-Urién Sainz, Cristina Saldaña Dueñas, Rosa Iglesias Picazo
A 28-year-old man diagnosed with Charge syndrome and no history of NSAIDs ingestion was referred due to the presentation in the previous 24 h of melenic stools with a negative upper endoscopy. Physical examination was unremarkable, although laboratory tests showed anemia. On the second day, significant painless rectal bleeding and the decrease of hematocrit levels responding to blood transfusion were observed, so colonoscopy was recommended but completely rejected by the patient. Therefore, capsule endoscopy was performed, identifying a saccular image in the terminal ileum suggestive of a Meckel's diverticulum...
April 2017: Revista Española de Enfermedades Digestivas
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