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Dennys syndrome

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https://www.readbyqxmd.com/read/27908650/musculoskeletal-conditions-in-a-pediatric-population-with-ehlers-danlos-syndrome
#1
Courtney M Stern, Michael J Pepin, Joan M Stoler, Dennis E Kramer, Samantha A Spencer, Cynthia J Stein
OBJECTIVE: To describe musculoskeletal conditions in children with Ehlers-Danlos syndrome (EDS). STUDY DESIGN: A retrospective medical record review was performed, which evaluated 205 patients with EDS (ages 6-19 years) seen in sports medicine or orthopedic clinic at a large pediatric hospital over a 5-year period. RESULTS: Female (n = 147) and male (n = 57) patients were identified (mean age 12.7 years). The most common EDS subtype (55...
November 28, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27903507/hydroxychloroquine-inhibits-proinflammatory-signalling-pathways-by-targeting-endosomal-nadph-oxidase
#2
Nadine Müller-Calleja, Davit Manukyan, Antje Canisius, Dennis Strand, Karl J Lackner
OBJECTIVES: Hydroxychloroquine (HCQ) has been used for decades to treat patients with rheumatic diseases, for example, systemic lupus erythematosus (SLE), rheumatoid arthritis or the antiphospholipid syndrome (APS). We hypothesise that HCQ might target endosomal NADPH oxidase (NOX), which is involved in the signal transduction of cytokines as well as antiphospholipid antibodies (aPL). METHODS: For in vitro experiments, monocytic cells were stimulated with tumour necrosis factor α (TNFα), interleukin-1β (IL-1β) or a human monoclonal aPL and the activity of NOX was determined by flow cytometry...
November 30, 2016: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/27891564/a-homozygous-pign-missense-mutation-in-soft-coated-wheaten-terriers-with-a-canine-paroxysmal-dyskinesia
#3
Ana L Kolicheski, Gary S Johnson, Tendai Mhlanga-Mutangadura, Jeremy F Taylor, Robert D Schnabel, Taroh Kinoshita, Yoshiko Murakami, Dennis P O'Brien
Hereditary paroxysmal dyskinesias (PxD) are a heterogeneous group of movement disorders classified by frequency, duration, and triggers of the episodes. A young-adult onset canine PxD has segregated as an autosomal recessive trait in Soft-Coated Wheaten Terriers. The medical records and videos of episodes from 25 affected dogs were reviewed. The episodes of hyperkinesia and dystonia lasted from several minutes to several hours and could occur as often as >10/day. They were not associated with strenuous exercise or fasting but were sometimes triggered by excitement...
November 28, 2016: Neurogenetics
https://www.readbyqxmd.com/read/27864895/the-postreperfusion-syndrome-is-associated-with-acute-kidney-injury-following-donation-after-brain-death-liver-transplantation
#4
Marit Kalisvaart, Jubi E de Haan, Dennis A Hesselink, Wojciech G Polak, Bettina E Hansen, Jan N M IJzermans, Diederik Gommers, Herold J Metselaar, Jeroen de Jonge
Acute kidney injury (AKI) is frequently observed after DBD liver transplantation (LT) and associated with impaired recipient survival and chronic kidney disease. Hepatic ischemia/reperfusion injury (IRI) is suggested to be an important factor in this process. The postreperfusion syndrome (PRS) is the first manifestation of severe hepatic IRI directly after reperfusion. We performed a retrospective study on the relation between hepatic IRI and PRS and their impact on AKI in 155 DBD LT recipients. Severity of hepatic IRI was measured by peak postoperative AST levels and PRS was defined as >30% decrease in MAP ≥1 minute <5 minutes after reperfusion...
November 19, 2016: Transplant International: Official Journal of the European Society for Organ Transplantation
https://www.readbyqxmd.com/read/27863270/fluid-resuscitation-mediates-the-association-between-inhalational-burn-injury-and-acute-kidney-injury-in-the-major-burn-population
#5
Avinash B Kumar, William Andrews, Yaping Shi, Matthew S Shotwell, Scott Dennis, Jonathan Wanderer, Blair Summitt
BACKGROUND: It is known that acute respiratory distress syndrome and acute lung injury are independent risk factors for developing acute kidney injury (AKI) through complex pathophysiologic mechanisms. Our specific aim is to evaluate the risk factors for AKI postburn injury and whether inhalation thermal injury is an independent risk factor for developing AKI in the major burn population. METHODS: This is an institutional review board-approved, retrospective cohort study of patients admitted to a tertiary burn intensive care unit between 2011 and 2013...
October 19, 2016: Journal of Critical Care
https://www.readbyqxmd.com/read/27829096/cognitive-subtypes-of-schizophrenia-characterized-by-differential-brain-volumetric-reductions-and-cognitive-decline
#6
Danielle Weinberg, Rhoshel Lenroot, Isabella Jacomb, Katherine Allen, Jason Bruggemann, Ruth Wells, Ryan Balzan, Dennis Liu, Cherrie Galletly, Stanley V Catts, Cynthia Shannon Weickert, Thomas W Weickert
Importance: Cognitively distinct subgroups of schizophrenia have been defined based on premorbid and current IQ, but little is known about the neuroanatomical differences among these cognitive subgroups. Objectives: To confirm previous findings related to IQ-based subgroups of patients with schizophrenia in an independent sample and extend those findings to determine the extent to which brain volumetric differences correspond to the IQ-based subgroups. Design, Setting, and Participants: A total of 183 participants were assessed at the outpatient settings of Neuroscience Research Australia and Lyell McEwin Hospital from September 22, 2009, to August 1, 2012...
November 9, 2016: JAMA Psychiatry
https://www.readbyqxmd.com/read/27827985/reply-to-comment-on-detection-of-mycotoxin-in-patients-with-chronic-fatigue-syndrome-toxins-2013-5-605-617-by-mark-j-mendell
#7
Joseph Brewer, Jack Dwayne Thrasher, Dennis Hooper
The authors of [1] have received further correspondence from Mark J. Mendell [2] concerning the above paper.[...].
November 7, 2016: Toxins
https://www.readbyqxmd.com/read/27827983/reply-to-comment-on-detection-of-mycotoxins-in-patients-with-chronic-fatigue-syndrome-toxins-2013-5-605-617-by-john-w-osterman-m-d
#8
Joseph Brewer, Jack Dwayne Thrasher, Dennis Hooper
This paper [1] was an observational case study.[...].
November 7, 2016: Toxins
https://www.readbyqxmd.com/read/27799561/second-generation-noninvasive-fetal-genome-analysis-reveals-de-novo-mutations-single-base-parental-inheritance-and-preferred-dna-ends
#9
K C Allen Chan, Peiyong Jiang, Kun Sun, Yvonne K Y Cheng, Yu K Tong, Suk Hang Cheng, Ada I C Wong, Irena Hudecova, Tak Y Leung, Rossa W K Chiu, Yuk Ming Dennis Lo
Plasma DNA obtained from a pregnant woman was sequenced to a depth of 270× haploid genome coverage. Comparing the maternal plasma DNA sequencing data with the parental genomic DNA data and using a series of bioinformatics filters, fetal de novo mutations were detected at a sensitivity of 85% and a positive predictive value of 74%. These results represent a 169-fold improvement in the positive predictive value over previous attempts. Improvements in the interpretation of the sequence information of every base position in the genome allowed us to interrogate the maternal inheritance of the fetus for 618,271 of 656,676 (94...
October 31, 2016: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/27792857/sudden-infant-death-syndrome-insights-and-future-directions-from-a-utah-population-database-analysis
#10
Erik D Christensen, Justin Berger, Mouied M Alashari, Hilary Coon, Cynthia Robison, Hsu-Tso Ho, David R Adams, Willian A Gahl, Ken R Smith, John M Opitz, Dennis R Johnson
"Sudden Infant Death syndrome" (SIDS) represents the commonest category of infant death after the first month of life. As genome scale sequencing greatly facilitates the identification of new candidate disease variants, the challenges of ascribing causation to these variants persists. In order to determine the extent to which SIDS occurs in related individuals and their pedigree structure we undertook an analysis of SIDS using the Utah Population Database, recording, for example, evidence of enrichment for genetic causation following the back-to-sleep recommendations of 1992 and 1994...
October 28, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27780558/clinical-predictors-of-early-acute-respiratory-distress-syndrome-in-trauma-patients
#11
Michael P O'Leary, Jessica A Keeley, Arthur Yule, Caitlyn Suruki, David S Plurad, Ashkan Moazzez, Angela L Neville, Brant A Putnam, Dennis Y Kim
BACKGROUND: The objectives of this study were to examine the incidence and severity of early acute respiratory distress syndrome (ARDS) according to the Berlin Definition and to identify risk factors associated with the development of early post-traumatic ARDS. METHODS: A 2.5-year retrospective database of adult trauma patients who required mechanical ventilation for greater than 48 hours at a level 1 trauma center was analyzed for variables predictive of early (<48 hours after injury), mild, moderate, and severe ARDS and in-hospital mortality...
September 30, 2016: American Journal of Surgery
https://www.readbyqxmd.com/read/27778389/beckwith-wiedemann-syndrome-and-primary-lymphedema-of-the-lower-extremity
#12
Usha E A Beijnen, Reid A Maclellan, Jeremy A Goss, Javier A Couto, Dennis J Konczyk, Arin K Greene
Beckwith-Wiedemann syndrome is the most common genetic overgrowth syndrome. Patients with Beckwith-Wiedemann syndrome may have hemihypertrophy, but their lymphatic vasculature is intact. We present a child with Beckwith-Wiedemann syndrome and lower extremity enlargement thought to be due to hemihypertrophy that was instead diagnosed with primary lymphedema. There are many causes of leg overgrowth in the pediatric population and misdiagnosis is common. While extremity enlargement secondary to hemihypertrophy may occur in 15% of patients with Beckwith-Wiedemann syndrome, progression and pitting edema only occur in primary lymphedema...
October 25, 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27766181/enhanced-syndromic-surveillance-for-mass-gatherings-in-the-pacific-a-case-study-of-the-11th-festival-of-pacific-arts-in-solomon-islands-2012
#13
Damian Hoy, Salanieta T Saketa, Roy Roger Maraka, Alison Sio, Ian Wanyeki, Pascal Frison, Divi Ogaoga, Dennie Iniakawala, Cynthia Joshua, Sala Duituturaga, Christelle Lepers, Adam Roth, Paul White, Yvan Souares
Mass gatherings pose public health challenges to host countries, as they can cause or exacerbate disease outbreaks within the host location or elsewhere. In July 2012, the 11th Festival of Pacific Arts (FOPA), a mass gathering event involving 22 Pacific island states and territories, was hosted by Solomon Islands. An enhanced syndromic surveillance (ESS) system was implemented for the event. Throughout the capital city, Honiara, 15 sentinel sites were established and successfully took part in the ESS system, which commenced one week before the FOPA (25 June) and concluded eight days after the event (22 July)...
July 2016: Western Pacific Surveillance and Response Journal: WPSAR
https://www.readbyqxmd.com/read/27747196/shiga-toxin-mediated-neurologic-changes-in-murine-model-of-disease
#14
Suman Pradhan, Christine Pellino, Kayleigh MacMaster, Dennis Coyle, Alison A Weiss
Seizures and neurologic involvement have been reported in patients infected with Shiga toxin (Stx) producing E. coli, and hemolytic uremic syndrome (HUS) with neurologic involvement is associated with more severe outcome. We investigated the extent of renal and neurologic damage in mice following injection of the highly potent form of Stx, Stx2a, and less potent Stx1. As observed in previous studies, Stx2a brought about moderate to acute tubular necrosis of proximal and distal tubules in the kidneys. Brain sections stained with hematoxylin and eosin (H&E) appeared normal, although some red blood cell congestion was observed...
2016: Frontiers in Cellular and Infection Microbiology
https://www.readbyqxmd.com/read/27743551/early-childhood-trauma-and-hippocampal-volumes-in-patients-with-epileptic-and-psychogenic-seizures
#15
Benjamin Johnstone, Dennis Velakoulis, Cheng Yi Yuan, Anthony Ang, Chris Steward, Patricia Desmond, Terence J O'Brien
OBJECTIVE: Exposure to early life childhood trauma has been implicated as resulting in a vulnerability to epileptic and psychogenic nonepileptic seizures (PNES), hippocampal atrophy, and psychiatric disorders. This study aimed to explore the relationships between childhood trauma, epilepsy, PNES, and hippocampal volume in patients admitted to a video-electroencephalogram monitoring (VEM) unit. METHODS: One hundred thirty-one patients were recruited from the Royal Melbourne Hospital VEM unit...
October 12, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/27722998/craniofacial-features-as-assessed-by-lateral-cephalometric-measurements-in-children-with-down-syndrome
#16
Veerasathpurush Allareddy, Nicholas Ching, Eric A Macklin, Lauren Voelz, Gil Weintraub, Emily Davidson, Lisa Albers Prock, Dennis Rosen, Richard Brunn, Brian G Skotko
OBJECTIVE: The objective of the present study is to examine the craniofacial development of patients with Down syndrome (DS) and compare them with a neurotypical population. METHODS: This study is a cross-sectional analysis of lateral cephalometric radiographs of participants with DS. The study population consisted of children and young adults with DS aged 3-25 years. Cephalometric data were summarized by age and sex. Raw and normalized z-scores were computed. One-sample t tests were used to test whether mean z-scores differed from zero...
December 2016: Progress in Orthodontics
https://www.readbyqxmd.com/read/27699261/anakinra-as-a-diagnostic-challenge-and-treatment-option-for-systemic-autoinflammatory-disorders-of-undefined-etiology
#17
Stephanie R Harrison, Dennis McGonagle, Sharmin Nizam, Stephen Jarrett, Jeroen van der Hilst, Michael F McDermott, Sinisa Savic
BACKGROUND: Some adult patients presenting with unexplained pyrexia, serositis, skin rashes, arthralgia, myalgia, and other symptoms commonly found in autoinflammatory disorders may not fit a specific diagnosis, either because their clinical phenotype is nondiagnostic or genetic tests are negative. We used the term undifferentiated systemic autoinflammatory disorder (uSAID) to describe such cases. Given that well-defined autoinflammatory diseases show responses to IL-1 blockade, we evaluated whether anakinra was useful for both diagnosing and treating uSAID patients...
May 5, 2016: JCI Insight
https://www.readbyqxmd.com/read/27689022/longitudinal-cerebellar-diffusion-tensor-imaging-changes-in-posterior-fossa-syndrome
#18
Sean D McEvoy, Amy Lee, Andrew Poliakov, Seth Friedman, Dennis Shaw, Samuel R Browd, Richard G Ellenbogen, Jeffrey G Ojemann, Christine L Mac Donald
Posterior fossa syndrome is a severe transient loss of language that frequently complicates resection of tumors of the cerebellum. The associated pathophysiology and relevant anatomy to this language deficit remains controversial. We performed a retrospective analysis of all cerebellar tumor resections at Seattle Children's Hospital from 2010 to 2015. Diffusion tensor imaging was performed on each of the patients as part of their clinical scan. Patients included in the study were divided into groups based on language functioning following resection: intact (N = 19), mild deficit (N = 19), and posterior fossa syndrome (N = 9)...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27677503/bivalirudin-or-unfractionated-heparin-in-patients-with-acute-coronary-syndromes-managed-invasively-with-and-without-st-elevation-matrix-randomised-controlled-trial
#19
Sergio Leonardi, Enrico Frigoli, Martina Rothenbühler, Eliano Navarese, Paolo Calabró, Paolo Bellotti, Carlo Briguori, Marco Ferlini, Bernardo Cortese, Alessandro Lupi, Salvatore Lerna, Dennis Zavallonito-Parenti, Giovanni Esposito, Simone Tresoldi, Antonio Zingarelli, Stefano Rigattieri, Cataldo Palmieri, Armando Liso, Fabio Abate, Marco Zimarino, Marco Comeglio, Gabriele Gabrielli, Alaide Chieffo, Salvatore Brugaletta, Ciro Mauro, Nicolas M Van Mieghem, Dik Heg, Peter Jüni, Stephan Windecker, Marco Valgimigli
OBJECTIVE:  To test the optimal antithrombotic regimen in patients with acute coronary syndrome. DESIGN:  Randomised controlled trial. SETTING:  Patients with acute coronary syndrome with and without ST segment elevation in 78 centres in Italy, the Netherlands, Spain, and Sweden. PARTICIPANTS:  7213 patients with acute coronary syndrome and planned percutaneous coronary intervention: 4010 with ST segment elevation and 3203 without ST segment elevation...
September 27, 2016: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/27673384/evaluating-the-performance-of-the-pediatric-acute-lung-injury-consensus-conference-definition-of-acute-respiratory-distress-syndrome
#20
Kaushik Parvathaneni, Sanjay Belani, Dennis Leung, Christopher J L Newth, Robinder G Khemani
OBJECTIVE: The Pediatric Acute Lung Injury Consensus Conference has developed a pediatric-specific definition of acute respiratory distress syndrome, which is a significant departure from both the Berlin and American European Consensus Conference definitions. We sought to test the external validity and potential impact of the Pediatric Acute Lung Injury Consensus Conference definition by comparing the number of cases of acute respiratory distress syndrome and mortality rates among children admitted to a multidisciplinary PICU when classified by Pediatric Acute Lung Injury Consensus Conference, Berlin, and American European Consensus Conference criteria...
September 23, 2016: Pediatric Critical Care Medicine
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