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https://www.readbyqxmd.com/read/29335739/a-postzygotic-smo-mutation-caused-the-original-case-of-happle-tinschert-syndrome
#1
Martin Zenker, Sigrid Tinschert, Ilse Wieland, Denny Schanze, Rudolf Happle
No abstract text is available yet for this article.
January 16, 2018: Acta Dermato-venereologica
https://www.readbyqxmd.com/read/29322175/association-of-psoriasis-with-comorbidity-development-in-children-with-psoriasis
#2
Megha M Tollefson, Holly K Van Houten, Dennis Asante, Xiaoxi Yao, Hilal Maradit Kremers
Importance: Children with psoriasis are at increased risk for comorbidities. Many children with psoriasis are also overweight or obese; it is unknown whether the increased risk of comorbidities in these children is independent of obesity. Objective: To determine the risk of elevated lipid levels (hyperlipidemia/hypertriglyceridemia), hypertension, metabolic syndrome, polycystic ovarian syndrome, diabetes, nonalcoholic liver disease, and elevated liver enzyme levels in children with and without psoriasis, after accounting for obesity...
January 10, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29310768/sjs-ten-2017-building-multidisciplinary-networks-to-drive-science-and-translation
#3
REVIEW
Katie D White, Riichiro Abe, Michael Ardern-Jones, Thomas Beachkofsky, Charles Bouchard, Bruce Carleton, James Chodosh, Ricardo Cibotti, Robert Davis, Joshua C Denny, Roni P Dodiuk-Gad, Elizabeth N Ergen, Jennifer L Goldman, James H Holmes, Shuen-Iu Hung, Mario E Lacouture, Rannakoe J Lehloenya, Simon Mallal, Teri A Manolio, Robert G Micheletti, Caroline M Mitchell, Maja Mockenhaupt, David A Ostrov, Rebecca Pavlos, Munir Pirmohamed, Elena Pope, Alec Redwood, Misha Rosenbach, Michael D Rosenblum, Jean-Claude Roujeau, Arturo P Saavedra, Hajirah N Saeed, Jeffery P Struewing, Hirohiko Sueki, Chonlaphat Sukasem, Cynthia Sung, Jason A Trubiano, Jessica Weintraub, Lisa M Wheatley, Kristina B Williams, Brandon Worley, Wen-Hung Chung, Neil H Shear, Elizabeth J Phillips
Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a life-threatening, immunologically mediated, and usually drug-induced disease with a high burden to individuals, their families, and society with an annual incidence of 1 to 5 per 1,000,000. To effect significant reduction in short- and long-term morbidity and mortality, and advance clinical care and research, coordination of multiple medical, surgical, behavioral, and basic scientific disciplines is required. On March 2, 2017, an investigator-driven meeting was held immediately before the American Academy of Dermatology Annual meeting for the central purpose of assembling, for the first time in the United States, clinicians and scientists from multiple disciplines involved in SJS/TEN clinical care and basic science research...
January 2018: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29305346/a-de-novo-nonsense-mutation-in-asxl3-shared-by-siblings-with-bainbridge-ropers-syndrome
#4
Daniel C Koboldt, Theresa Mihalic Mosher, Benjamin J Kelly, Emily Sites, Dennis Bartholomew, Scott E Hickey, Kim McBride, Richard K Wilson, Peter White
Two sisters (ages 16 y. and 15 y.) have been followed by our clinical genetics team for several years. Both girls have severe intellectual disability, hypotonia, seizures, and distinctive craniofacial features. The parents are healthy, and have no other children. Oligo array, fragile X testing, and numerous single-gene tests were negative. All four family members underwent research exome sequencing, which revealed a heterozygous nonsense mutation in ASXL3 (p.R1036X) that segregated with disease. Exome data and independent Sanger sequencing confirmed that the variant is de novo, suggesting possible germline mosaicism in one parent...
January 5, 2018: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/29304373/genomic-dna-methylation-signatures-enable-concurrent-diagnosis-and-clinical-genetic-variant-classification-in-neurodevelopmental-syndromes
#5
Erfan Aref-Eshghi, David I Rodenhiser, Laila C Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, Rebecca L Hood, Dennis E Bulman, Kristin D Kernohan, Kym M Boycott, Philippe M Campeau, Charles Schwartz, Bekim Sadikovic
Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment of histone modifications, and chromatin remodeling (the "epigenetic machinery"). The mechanistic cross-talk between histone modification and DNA methylation suggests that these syndromes might be expected to display specific DNA methylation signatures that are a reflection of those primary errors associated with chromatin dysregulation...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29301877/draft-genome-sequences-of-enterohemorrhagic-and-enteropathogenic-escherichia-coli-strains-isolated-from-alpacas-in-peru
#6
Lenin Maturrano, Marjorie Aleman, Dennis Carhuaricra, Jorge Maximiliano, Juan Siuce, Luis Luna, Raul Rosadio
The draft genome sequences of two strains of Escherichia coli, isolated from alpacas in Peru, are reported here. ECA1 has been determined to be a strain of enterohemorrhagic E. coli and ECB1 a strain of enteropathogenic E. coli These pathogens are responsible for hemolytic-uremic syndrome in humans and diarrhea in different mammals, respectively.
January 4, 2018: Genome Announcements
https://www.readbyqxmd.com/read/29301646/impact-of-sex-on-comparative-outcomes-of-radial-versus-femoral-access-in-patients-with-acute-coronary-syndromes-undergoing-invasive-management-data-from-the-randomized-matrix-access-trial
#7
Giuseppe Gargiulo, Sara Ariotti, Pascal Vranckx, Sergio Leonardi, Enrico Frigoli, Nestor Ciociano, Carlo Tumscitz, Francesco Tomassini, Paolo Calabrò, Stefano Garducci, Gabriele Crimi, Giuseppe Andò, Maurizio Ferrario, Ugo Limbruno, Bernardo Cortese, Paolo Sganzerla, Alessandro Lupi, Filippo Russo, Roberto Garbo, Arturo Ausiello, Dennis Zavalloni, Gennaro Sardella, Giovanni Esposito, Andrea Santarelli, Simone Tresoldi, Marco Stefano Nazzaro, Antonio Zingarelli, Anna Sonia Petronio, Stephan Windecker, Bruno R da Costa, Marco Valgimigli
OBJECTIVES: This study sought to assess whether transradial access (TRA) compared with transfemoral access (TFA) is associated with consistent outcomes in male and female patients with acute coronary syndrome undergoing invasive management. BACKGROUND: There are limited and contrasting data about sex disparities for the safety and efficacy of TRA versus TFA for coronary intervention. METHODS: In the MATRIX (Minimizing Adverse Haemorrhagic Events by TRansradial Access Site and Systemic Implementation of angioX) program, 8,404 patients were randomized to TRA or TFA...
January 8, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29260034/the-utility-of-ultrasound-in-showing-a-unique-cause-of-posterior-interosseous-nerve-syndrome
#8
Derrick Soh, Cecilia Cappelen-Smith, John Korber, Tim Heath, Dennis Cordato
No abstract text is available yet for this article.
September 2017: ENeurologicalSci
https://www.readbyqxmd.com/read/29243948/shanghai-health-study-2001-2009-what-was-learned-about-benzene-health-effects
#9
Sherilyn A Gross, Dennis J Paustenbach
The Shanghai Health Study (SHS) was a large epidemiology study conducted as a joint effort between the University of Colorado and Fudan University in Shanghai, China. The study was funded by members of the American Petroleum Institute between 2001 and 2009 and was designed to evaluate the human health effects associated with benzene exposure. Two arms of the SHS included: an occupational-based molecular epidemiology study and several hospital-based case control studies. Consistent with historical literature, following sufficient exposure to relatively high airborne concentrations and years of exposure, the SHS concluded that exposure to benzene resulted in an increased risk of various blood and bone marrow abnormalities such as benzene poisoning, aplastic anemia (AA), myelodysplastic syndrome (MDS), and acute myeloid leukemia (AML)...
December 15, 2017: Critical Reviews in Toxicology
https://www.readbyqxmd.com/read/29238995/test-dose-pharmacokinetics-in-pediatric-patients-receiving-once-daily-iv-busulfan-conditioning-for-hematopoietic-stem-cell-transplant-a-reliable-approach
#10
Kristina M Brooks, Paul Jarosinski, Thomas Hughes, Elizabeth Kang, Nirali N Shah, John B Le Gall, Dennis D Hickstein, Suk See De Ravin, Jomy M George, Parag Kumar
Intravenous (IV) busulfan test dose pharmacokinetics (PK) has been shown to accurately predict once-daily dose requirements and improve outcomes in adult transplant patients, but there are limited data to support this approach in children. Test doses of busulfan ∼0.8 mg/kg were infused over 2 to 3 hours, followed by serial sampling to 4-6 hours postinfusion in pediatric hematopoietic stem cell transplant recipients (n = 5). Once-daily busulfan doses were calculated based on a myelosuppressive area under the concentration-time curve (AUC) target of ∼3700 to 4000 μmol·min/L and assumed dose-proportionality to the test dose...
December 14, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29223984/nccn-guidelines-insights-genetic-familial-high-risk-assessment-colorectal-version-3-2017
#11
Samir Gupta, Dawn Provenzale, Scott E Regenbogen, Heather Hampel, Thomas P Slavin, Michael J Hall, Xavier Llor, Daniel C Chung, Dennis J Ahnen, Travis Bray, Gregory Cooper, Dayna S Early, James M Ford, Francis M Giardiello, William Grady, Amy L Halverson, Stanley R Hamilton, Jason B Klapman, David W Larson, Audrey J Lazenby, Patrick M Lynch, Arnold J Markowitz, Robert J Mayer, Reid M Ness, Niloy Jewel Samadder, Moshe Shike, Shajanpeter Sugandha, Jennifer M Weiss, Mary A Dwyer, Ndiya Ogba
The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal provide recommendations for the management of patients with high-risk syndromes associated with an increased risk of colorectal cancer (CRC). The NCCN Panel for Genetic/Familial High-Risk Assessment: Colorectal meets at least annually to assess comments from reviewers within their institutions, examine relevant data, and reevaluate and update their recommendations. These NCCN Guidelines Insights focus on genes newly associated with CRC risk on multigene panels, the associated evidence, and currently recommended management strategies...
December 2017: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29215161/suppressive-oligodeoxynucleotides-containing-ttaggg-motifs-inhibit-cgas-activation-in-human-monocytes
#12
Folkert Steinhagen, Thomas Zillinger, Konrad Peukert, Mario Fox, Marcus Thudium, Winfried Barchet, Christian Putensen, Dennis Klinman, Eicke Latz, Christian Bode
Type I interferon (IFN) is a critical mediator of autoimmune diseases such as systemic lupus erythematosus (SLE) and Aicardi-Goutières Syndrome (AGS). The recently discovered cyclic-GMP-AMP (cGAMP) synthase (cGAS) induces the production of type I IFN in response to cytosolic DNA and is potentially linked to SLE and AGS. Suppressive oligodeoxynucleotides (ODN) containing repetitive TTAGGG motifs present in mammalian telomeres have proven useful in the treatment of autoimmune diseases including SLE. In this study, we demonstrate that the suppressive ODN A151 effectively inhibits activation of cGAS in response to cytosolic DNA, thereby inhibiting type I IFN production by human monocytes...
December 7, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29208331/autoimmune-and-medication-induced-lymphadenopathies
#13
REVIEW
Alejandro A Gru, Dennis P O'Malley, Aliso Viejo
This article will provide a discussion of some common autoimmune disorders that could affect the lymph nodes and potentially mimic B and T-cell lymphomas. Some of these disorders are more characteristic of individuals in the pediatric age group (autoimmune lymphoproliferative syndrome, Kawasaki disease), while others present in older individuals (rheumatoid arthritis, lupus erythematosus, sarcoidosis). A common finding that groups all of these disorders together is the overall relative preservation of the architecture, a feature that can be particularly helpful to distinguish them from many B and T-cell lymphomas...
November 28, 2017: Seminars in Diagnostic Pathology
https://www.readbyqxmd.com/read/29200170/terson-syndrome-before-induction-chemotherapy-for-acute-lymphoblastic-leukemia
#14
YunZu Michele Wang, Eric Nudleman, Daniel Vinocur, Dennis John Kuo
A previously healthy 2-year-old female infant presented with pancytopenia and was diagnosed with acute lymphoblastic leukemia. Before the initiation of treatment, she developed symptoms concerning for increased intracranial pressure. Head imaging revealed left parietal hemorrhage, in addition to a right vitreous hemorrhage, which was confirmed on ophthalmology examination later. Terson syndrome, in which intraocular hemorrhage is associated with intracranial hemorrhage, is more commonly reported in adults, although ocular manifestations of leukemia have been reported at presentation and are typically asymptomatic...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29179144/the-centrality-of-dsm-and-non-dsm-depressive-symptoms-in-han-chinese-women-with-major-depression
#15
Kenneth S Kendler, Steven H Aggen, Jonathan Flint, Denny Borsboom, Eiko I Fried
INTRODUCTION: We compared DSM-IV criteria for major depression (MD) with clinically selected non-DSM criteria in their ability to represent clinical features of depression. METHOD: We conducted network analyses of 19 DSM and non-DSM symptoms of MD assessed at personal interview in 5952 Han Chinese women meeting DSM-IV criteria for recurrent MD. We estimated an Ising model (the state-of-the-art network model for binary data), compared the centrality (interconnectedness) of DSM-IV and non-DSM symptoms, and investigated the community structure (symptoms strongly clustered together)...
November 10, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29175873/crowned-dens-syndrome
#16
David Ledingham, Cecilia Cappelen-Smith, Dennis Cordato
Crowned dens syndrome is a rare presentation of calcium pyrophosphate deposition disease. It is characterised by severe occipital pain and neck stiffness. Acute presentations are typically accompanied by fever and an inflammatory response and hence can be misdiagnosed as polymyalgia rheumatica or meningitis. Chronic relapsing presentations may be misdiagnosed as cervicogenic neck pain or occipital neuralgia. We present a patient who presented with a chronic relapsing form of crowned dens syndrome and discuss the epidemiology, typical presentation and management of this eminently treatable condition...
November 24, 2017: Practical Neurology
https://www.readbyqxmd.com/read/29174739/episode-accumulation-associated-with-hastened-recurrence-and-delayed-recovery-in-bipolar-disorder
#17
Dong Yeon Park, Dennis Do, Lauren Chang, Saloni Shah, Laura D Yuen, Farnaz Hooshmand, Po W Wang, Shefali Miller, Terence A Ketter
AIMS: Assess episode accumulation (≥ 10 prior mood episodes) associations with demographic/baseline clinical characteristics and mood episode recurrence/recovery in bipolar disorder (BD). METHODS: Stanford BD Clinic outpatients enrolled during 2000-2011 were assessed with Systematic Treatment Enhancement Program for BD (STEP-BD) Affective Disorders Evaluation. Among recovered and syndromal mood episode patients, we assessed episode accumulation associations with demographic/baseline clinical characteristics and with recurrence/recovery (by Kaplan-Meier survival analyses, with mediators assessed with Cox Proportional Hazard Ratio (HR) analyses)...
November 15, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29173608/the-relationship-between-cardiologist-care-and-clinical-outcomes-in-patients-with-new-onset-atrial-fibrillation
#18
Sheldon M Singh, Feng Qiu, Lauren Webster, Peter C Austin, Dennis T Ko, Jack V Tu, Harindra C Wijeysundera
BACKGROUND: Increased mortality is well described in patients with atrial fibrillation (AF), primarily related to death from cardiovascular causes. One may hypothesize that cardiology care may be associated with a reduction in cardiovascular deaths in patients with AF, thereby improving their overall survival. The aim of this study was to assess the association between cardiologist care and clinical outcomes, including all-cause mortality, in patients with new-onset AF. METHODS: This was a retrospective population-level, propensity score-matched cohort study of patients aged 20-80 years with new-onset AF presenting to an emergency department in Ontario, Canada between 2010 and 2012...
December 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29141745/histology-and-serum-cytokine-responses-in-an-imported-rickettsia-slovaca-infection-germany
#19
Dennis Tappe, Nina Booken, Almut Böer-Auer, Jessica Rauch, Stefan Schmiedel, Kristian Reich
Rickettsia slovaca, a spotted fever group rickettsial pathogen, causes a syndrome consisting of scalp eschar and neck lymphadenopathy following tick bites. We analyzed the histologic skin reaction in the eschar, showing a prominent eosinophilic infiltration, as well as the presence of B lymphocytes and CD4- and CD8-positive T cells. Examination of the serum cytokine responses over time demonstrated an initial proinflammatory cytokine elevation followed by normalization.
October 23, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/29138069/traumatic-fractures-of-the-cervical-spine-analysis-of-changes-in-incidence-etiology-concurrent-injuries-and-complications-among-488-262-patients-from-2005-2013
#20
Peter G Passias, Gregory W Poorman, Frank A Segreto, Cyrus M Jalai, Samantha R Horn, Cole A Bortz, Dennis Vasquez-Montes, Bassel G Diebo, Shaleen Vira, Olivia J Bono, Rafael De La Garza-Ramos, John Y Moon, Charles Wang, Brandon P Hirsch, Peter L Zhou, Michael Gerling, Heiko Koller, Virginie Lafage
OBJECTIVE: The etiologies and epidemiology of traumatic cervical spine fracture have not been described with sufficient power or recency. Our goal is to describe demographics, incidence, etiology, spinal cord injuries (SCIs), concurrent injuries, treatments, and complications of traumatic cervical spine fractures. METHODS: Retrospective review of the Nationwide Inpatient Sample. ICD-9 E-Codes identified trauma cases from 2005-2013. Patients with cervical fracture were isolated...
November 11, 2017: World Neurosurgery
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