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https://www.readbyqxmd.com/read/28229031/characterization-of-sleep-architecture-in-down-syndrome-patients-pre-and-post-airway-surgery
#1
Mark Mims, Prasad John Thottam, Dennis Kitsko, Amber Shaffer, Sukgi Choi
OBJECTIVES: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively. STUDY DESIGN: The study was a retrospective review. METHODS: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children's hospital for obstructive sleep apnea (OSA) were investigated. Postoperative changes in respiratory parameters and sleep architecture (SA) were assessed and compared to general pediatric normative data using paired t-tests and Wilcoxon signed-rank test...
January 17, 2017: Curēus
https://www.readbyqxmd.com/read/28216061/outcomes-after-primary-percutaneous-coronary-intervention-for-st-elevation-myocardial-infarction-caused-by-ectatic-infarct-related-arteries
#2
Vimalraj Bogana Shanmugam, Peter J Psaltis, Dennis T L Wong, Ian T Meredith, Yuvaraj Malaiapan, Wally Ahmar
BACKGROUND: There is minimal published data on outcomes of patients presenting with ST elevation myocardial infarction (STEMI) due to an ectatic infarct-related artery (EIRA). The aim of this study was to analyse the clinical characteristics and outcomes of these patients presenting for primary percutaneous coronary intervention (P-PCI) in comparison with non-EIRA. METHODS: Of the 1834 patients who presented at our institution for P-PCI between February 2008 and November 2013, 25 (1...
February 7, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28215471/dopamine-serotonin-stabilizer-rp5063-a-randomized-double-blind-placebo-controlled-multicenter-trial-of-safety-and-efficacy-in-exacerbation-of-schizophrenia-or-schizoaffective-disorder
#3
Marc Cantillon, Arul Prakash, Ajay Alexander, Robert Ings, Dennis Sweitzer, Laxminarayan Bhat
The study objectives were to evaluate the efficacy, safety, tolerability, and pharmacokinetics of RP5063 versus placebo. The study was conducted in adults with acute exacerbation of schizophrenia or schizoaffective disorder. This 28-day, multicenter, placebo-controlled, double-blind study randomized 234 subjects to RP5063 15, 30, or 50mg; aripiprazole; or placebo (3:3:3:1:2) once daily. The aripiprazole arm was included solely to show assay sensitivity and was not powered to show efficacy. The primary endpoint was change from baseline to Day 28/EOT (End-of-Treatment) in Positive and Negative Syndrome Scale (PANSS) total score; secondary endpoints included PANSS subscales, improvement ≥1 point on the Clinical Global Impressions-Severity (CGI-S), depression and cognition scales...
February 16, 2017: Schizophrenia Research
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphase-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#4
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28146047/similarities-and-differences-matter-considering-the-influence-of-gender-on-hiv-prevention-programs-for-young-adults-in-an-urban-hbcu
#5
Ian Lindong, Lorece Edwards, Sabriya Dennis, Olaoluwa Fajobi
Human Immunodeficiency Virus/Acquired Immune Deficiency Syndrome (HIV/AIDS) disproportionately burdens African American youth and young adults. In studies conducted in Historically Black Colleges and Universities (HBCU) settings, African American youth generally perceive themselves as having a low risk of contracting HIV and sexually transmitted diseases (STDs) despite having higher rates of unprotected sexual encounters, multiple sex partners, and particularly low rates of HIV testing and awareness of HIV status...
January 29, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28124477/a-predictive-model-for-obstructive-sleep-apnea-and-down-syndrome
#6
Brian G Skotko, Eric A Macklin, Marco Muselli, Lauren Voelz, Mary Ellen McDonough, Emily Davidson, Veerasathpurush Allareddy, Yasas S N Jayaratne, Richard Bruun, Nicholas Ching, Gil Weintraub, David Gozal, Dennis Rosen
Obstructive sleep apnea (OSA) occurs frequently in people with Down syndrome (DS) with reported prevalences ranging between 55% and 97%, compared to 1-4% in the neurotypical pediatric population. Sleep studies are often uncomfortable, costly, and poorly tolerated by individuals with DS. The objective of this study was to construct a tool to identify individuals with DS unlikely to have moderate or severe sleep OSA and in whom sleep studies might offer little benefit. An observational, prospective cohort study was performed in an outpatient clinic and overnight sleep study center with 130 DS patients, ages 3-24 years...
January 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28111185/novel-frem1-mutations-in-a-patient-with-mota-syndrome-clinical-findings-mutation-update-and-review-of-frem1-related-disorders-literature
#7
REVIEW
Oscar F Chacon-Camacho, Martin Zenker, Denny Schanze, Jasbeth Ledesma-Gil, Juan C Zenteno
Manitoba-oculo-tricho-anal (MOTA) syndrome is an uncommon condition arising from biallelic mutations of FREM1 gene and clinically characterized by a variable spectrum of eyelid malformations, aberrant hairline, bifid or broad nasal tip, and gastrointestinal anomalies. In this report, we describe a patient with a phenotype compatible with MOTA syndrome (aberrant anterior hair line, hypertelorism, unilateral anophthalmia, and bifid and broad nasal tip) in whom two novel FREM1 mutations (c.305 A > G, p.Asp102Gly; and c...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28108465/outcomes-of-women-and-men-with-acute-coronary-syndrome-treated-with-and-without-percutaneous-coronary-revascularization
#8
Jacob A Udell, Maria Koh, Feng Qiu, Peter C Austin, Harindra C Wijeysundera, Akshay Bagai, Andrew T Yan, Shaun G Goodman, Jack V Tu, Dennis T Ko
BACKGROUND: Women hospitalized with a non-ST segment elevation acute coronary syndrome (ACS) have worse clinical outcomes compared with men. An early invasive strategy with prompt coronary revascularization may mitigate sex differences in outcomes. However, few contemporary studies have evaluated whether clinical outcomes differ between women and men presenting with ACS treated with an early invasive strategy. METHODS AND RESULTS: A population-based cohort of hospitalized ACS patients who received prompt cardiac catheterization from 2008 to 2011 in Ontario, Canada and followed for up to 2 years was studied...
January 20, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28103732/evaluation-of-antivenom-therapy-for-vipera-palaestinae-bites-in-children-experience-of-two-large-tertiary-care-pediatric-hospitals
#9
Dikla Pivko-Levy, Itamar Munchnak, Ayelet Rimon, Uri Balla, Dennis Scolnik, Christopher Hoyte, Yair Voliovitch, Miguel Glatstein
BACKGROUND: Antivenom has been successfully used to treat systemic and progressive, local manifestations of envenomation inflicted by Vipera (V.) palaestinae, the most common venomous snake in Israel. The objective of this study was to evaluate the fixed dose V. palaestinae monovalent (equine) immunoglobulin G antivenom used in two pediatric emergency departments. In particular, we wanted to assess the need for repeated antivenom administration and the rate of adverse antivenom effects in children...
January 20, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28102592/six-uneventful-pregnancy-outcomes-in-an-extended-vascular-ehlers-danlos-syndrome-family
#10
Annette F Baas, Wilko Spiering, Frans L Moll, Lieve Page-Christiaens, Ingrid C M Beenakkers, Dennis Dooijes, Evert-Jan P A Vonken, Jasper J van der Smagt, Nine V Knoers, Steven V Koenen, Joost A van Herwaarden, Gertjan Tj Sieswerda
Vascular Ehlers-Danlos Syndrome (vEDS) is caused by heterozygous mutations in COL3A1 and is characterized by fragile vasculature and hollow organs, with a high risk of catastrophic events at a young age. During pregnancy and delivery, maternal mortality rates up until 25% have been reported. However, recent pedigree analysis reported a substantial lower pregnancy-related mortality rate of 4.9%. Here, we describe an extended vEDS family with multiple uneventful pregnancy outcomes. In the proband, a 37-year-old woman, DNA-analysis because of an asymptomatic iliac artery dissection revealed a pathogenic mutation in COL3A1 (c...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28099234/electrographic-seizures-in-children-and-neonates-undergoing-extracorporeal-membrane-oxygenation
#11
Jainn-Jim Lin, Brenda L Banwell, Robert A Berg, Dennis J Dlugos, Rebecca N Ichord, Todd J Kilbaugh, Roxanne E Kirsch, Matthew P Kirschen, Daniel J Licht, Shavonne L Massey, Maryam Y Naim, Natalie E Rintoul, Alexis A Topjian, Nicholas S Abend
OBJECTIVE: We aimed to determine the prevalence and risk factors for electrographic seizures in neonates and children requiring extracorporeal membrane oxygenation support. DESIGN: Prospective quality improvement project. SETTING: Quaternary care pediatric institution. PATIENTS: Consistent with American Clinical Neurophysiology Society electroencephalographic monitoring recommendations, neonates and children requiring extracorporeal membrane oxygenation support underwent clinically indicated electroencephalographic monitoring...
January 17, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28087426/next-generation-sequencing-of-a-large-gene-panel-in-patients-initially-diagnosed-with-idiopathic-ventricular-fibrillation
#12
Marloes Visser, Dennis Dooijes, Jasper J van der Smagt, Jeroen F van der Heijden, Pieter A Doevendans, Peter Loh, Folkert W Asselbergs, Rutger J Hassink
BACKGROUND: Idiopathic ventricular fibrillation (IVF) is a rare primary cardiac arrhythmia syndrome that is diagnosed in a resuscitated cardiac arrest victim, with documented ventricular fibrillation, in whom no underlying cause is identified after comprehensive clinical evaluation. In some patients causative genetic mutations are detected which facilitate patient treatment and follow-up. The feasibility of next generation sequencing (NGS) has increased with its greater availability and decreasing costs...
January 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28081568/non-lethal-endotoxin-injection-a-rat-model-of-hypercoagulability
#13
Marjory B Brooks, James R Turk, Abraham Guerrero, Padma K Narayanan, John P Nolan, Elizabeth G Besteman, Dennis W Wilson, Roberta A Thomas, Cindy E Fishman, Karol L Thompson, Heidrun Ellinger-Ziegelbauer, Jennifer B Pierson, April Paulman, Alan Y Chiang, Albert E Schultze
Systemic inflammation co-activates coagulation, which unchecked culminates in a lethal syndrome of multi-organ microvascular thrombosis known as disseminated intravascular coagulation (DIC). We studied an endotoxin-induced inflammatory state in rats to identify biomarkers of hemostatic imbalance favoring hypercoagulability. Intraperitoneal injection of LPS at 15 mg/kg body weight resulted in peripheral leukopenia and widespread neutrophilic sequestration characteristic of an acute systemic inflammatory response...
2017: PloS One
https://www.readbyqxmd.com/read/28053137/activation-of-cecr1-in-m2-like-tams-promotes-paracrine-stimulation-mediated-glial-tumor-progression
#14
Changbin Zhu, Dana Mustafa, Ping-Pin Zheng, Marcel van der Weiden, Andrea Sacchetti, Maarten Brandt, Ihsan Chrifi, Dennie Tempel, Pieter J M Leenen, Dirk Jan Duncker, Caroline Cheng, Johan M Kros
BACKGROUND: The majority of glioma-associated microglia/macrophages have been identified as M2-type macrophages with immune suppressive and tumor supportive action. Recently, the extracellular adenosine deaminase protein Cat Eye Syndrome Critical Region Protein 1 (CECR1) was shown to regulate macrophage maturation. In this study, we investigate the role of CECR1 in the regulation of the glioma-associated macrophage response. METHODS: Expression of CECR1 was assessed in human glioma samples...
January 3, 2017: Neuro-oncology
https://www.readbyqxmd.com/read/28034899/comparison-of-the-efficacy-and-safety-of-early-rule-out-pathways-for-acute-myocardial-infarction
#15
Andrew R Chapman, Atul Anand, Jasper Boeddinghaus, Amy V Ferry, Dennis Sandeman, Philip D Adamson, Jack P Andrews, Stephanie Tan, Sheun F Cheng, Michelle D'Souza, Kate Orme, Fiona E Strachan, Thomas Nestelberger, Raphael Twerenbold, Patrick Badertscher, Tobias Reichlin, Alasdair Gray, Anoop S V Shah, Christian Mueller, David E Newby, Nicholas L Mills
BACKGROUND: -High-sensitivity cardiac troponin assays enable myocardial infarction to be ruled out earlier, but the optimal approach is uncertain. We compared the European Society of Cardiology (ESC) rule-out pathway, with a pathway that incorporates lower cardiac troponin concentrations to risk stratify patients. METHODS: -Patients with suspected acute coronary syndrome (n=1,218) underwent high-sensitivity cardiac troponin I measurement at presentation, 3 and 6 or 12 hours...
December 29, 2016: Circulation
https://www.readbyqxmd.com/read/28017209/high-dose-methotrexate-with-leucovorin-rescue-for-monumentally-severe-cns-inflammatory-syndromes
#16
Shin C Beh, Eric Kildebeck, Ram Narayan, Allen Desena, Doug Schell, Elizabeth S Rowe, Vernon Rowe, Dennis Burns, Louis Whitworth, Teresa C Frohman, Benjamin Greenberg, Elliot M Frohman
BACKGROUND: At sufficiently high doses, methotrexate (HDMTX) achieves substantial CNS penetration, whereas other tissues can be rescued from the effects of HDMTX by leucovorin rescue (LR), which does not penetrate the blood-brain barrier. OBJECTIVES: To report on the efficacy and safety of HDMTX with LR (HDMTX-LR), in the treatment of acute demyelinating inflammatory CNS syndromes refractory to conventional immunotherapy. METHODS: We performed a retrospective chart review of 12 patients treated (6 multiple sclerosis [MS], 4 neuromyelitis optica [NMO], and 2 Sjogren's syndrome myelopathy [SSM]) with HDMTX-LR after failing to improve, or exhibiting worsening following conventional immunotherapy...
January 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28013226/disseminated-intravascular-coagulation
#17
REVIEW
Benjamin M Boral, Dennis J Williams, Leonard I Boral
OBJECTIVES: To provide a review of the definition, pathophysiology, differential diagnosis, and treatment of disseminated intravascular coagulation (DIC). METHODS: A case scenario and a review of the literature related to the pertinent facts concerning DIC are provided. RESULTS: DIC is a systemic pathophysiologic process and not a single disease entity, resulting from an overwhelming activation of coagulation that consumes platelets and coagulation factors and causes microvascular fibrin thrombi, which can result in multiorgan dysfunction syndrome from tissue ischemia...
December 2016: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28000062/circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#18
Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak
PURPOSE: The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN gene which involves the repair of DNA double-strand breaks (DSBs). Here we studied the peripheral T cell compartment of NBS patients with a focus on immunological senescence. METHODS: The absolute numbers and frequencies of the different T cell subsets were determined in NBS patients from young age till adulthood and compared to age-matched healthy individuals (HI)...
February 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27991736/kmt2d-p-gln3575his-segregating-in-a-family-with-autosomal-dominant-choanal-atresia-strengthens-the-kabuki-charge-connection
#19
Lauren Badalato, Sali M K Farhan, Allison A Dilliott, Dennis E Bulman, Robert A Hegele, Sharan L Goobie
Choanal atresia is rarely reported in Kabuki syndrome, but is a common feature of CHARGE syndrome. Otherwise, the two conditions have a number of overlapping features, and the molecular links between them have recently been elucidated. Here, we report a case of a mother and her two children who presented with congenital choanal atresia. We performed whole exome sequencing on DNA from the mother and her two unaffected parents, and identified a de novo, novel variant in KMT2D. KMT2D p.Gln3575His segregated with disease status in the family, and is associated with a unique and conserved phenotype in the affected family members, with features overlapping with Kabuki and CHARGE syndromes...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27988049/update-on-feline-ionized-hypercalcemia
#20
REVIEW
Joao Felipe de Brito Galvao, Valerie Parker, Patricia A Schenck, Dennis J Chew
Hypercalcemia in cats is recognized with increased frequency, especially idiopathic hypercalcemia, which is the most common cause. Idiopathic hypercalcemia seems to be unique to the cat, not occurring in the dog as a specific syndrome. There are many causes of hypercalcemia, and diagnosis relies on evaluation of clinical signs, physical examination, diagnostic imaging, serum biochemistry, urinalysis, and evaluation of calcium metabolic hormones. With an accurate diagnosis, treatment options can be tailored to the individual...
December 14, 2016: Veterinary Clinics of North America. Small Animal Practice
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