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https://www.readbyqxmd.com/read/28524075/examining-the-overlap-between-autism-spectrum-disorder-and-22q11-2-deletion-syndrome
#1
Opal Ousley, A Nichole Evans, Samuel Fernandez-Carriba, Erica L Smearman, Kimberly Rockers, Michael J Morrier, David W Evans, Karlene Coleman, Joseph Cubells
22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15-50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician's best-estimate diagnosis...
May 18, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28515693/rolipram-improves-outcome-in-a-rat-model-of-infant-sepsis-induced-cardiorenal-syndrome
#2
Clark R Sims, Sharda P Singh, Shengyu Mu, Neriman Gokden, Dala Zakaria, Trung C Nguyen, Philip R Mayeux
While the mortality rate associated with sepsis in children has fallen over the years, it still remains unacceptably high. The development of both acute cardiac dysfunction and acute kidney injury during severe sepsis is categorized as type 5 cardiorenal syndrome (CRS) and is poorly understood in infants. To address this lack of understanding and the need for an appropriate animal model in which to conduct relevant preclinical studies, we developed a model of infant sepsis-induced CRS in rat pups then evaluated the therapeutic potential of the phosphodiesterase (PDE) 4 inhibitor, rolipram...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28509878/antigenic-and-biological-characterization-of-orf2-6-variants-at-early-times-following-prrsv-infection
#3
Alyssa B Evans, Hyelee Loyd, Jenelle R Dunkelberger, Sarah van Tol, Marcus J Bolton, Karin S Dorman, Jack C M Dekkers, Susan Carpenter
Genetic diversity of porcine reproductive and respiratory syndrome virus (PRRSV) challenges efforts to develop effective and broadly acting vaccines. Although genetic variation in PRRSV has been extensively documented, the effects of this variation on virus phenotype are less well understood. In the present study, PRRSV open reading frame (ORF)2-6 variants predominant during the first six weeks following experimental infection were characterized for antigenic and replication phenotype. There was limited genetic variation during these early times after infection; however, distinct ORF2-6 haplotypes that differed from the NVSL97-7895 inoculum were identified in each of the five pigs examined...
May 16, 2017: Viruses
https://www.readbyqxmd.com/read/28494183/resolution-of-cannabis-hyperemesis-syndrome-with-topical-capsaicin-in-the-emergency-department-a-case-series
#4
Laurel Dezieck, Zachary Hafez, Albert Conicella, Eike Blohm, Mark J O'Connor, Evan S Schwarz, Michael E Mullins
BACKGROUND: Cannabinoid hyperemesis syndrome (CHS) is characterized by symptoms of cyclic abdominal pain, nausea, and vomiting in the setting of prolonged cannabis use. The transient receptor potential vanilloid 1 (TRPV1) receptor may be involved in this syndrome. Topical capsaicin is a proposed treatment for CHS; it binds TRPV1 with high specificity, impairing substance P signaling in the area postrema and nucleus tractus solitarius via overstimulation of TRPV1. This may explain its apparent antiemetic effect in this syndrome...
May 11, 2017: Clinical Toxicology
https://www.readbyqxmd.com/read/28486870/long-term-cardiac-morbidity-and-mortality-in-patients-with-aortic-valve-disease-following-liver-transplantation-a-case-matching-study
#5
Ramona Nicolau-Raducu, Thomas Marshall, Hamang Patel, Kelly Ural, Joseph Koveleskie, Susan Smith, Donald Ganier, Bryan Evans, Brian Fish, William Daly, Ari J Cohen, George Loss, Amjad Bokhari, Bobby Nossaman
INTRODUCTION: This retrospective study examined the role of aortic valve (AV) disease in patients who underwent orthotopic liver transplantation (OLT) to determine the incidence of postoperative cardiac morbidity and mortality when compared with a matched control group without AV disease. METHODS: Patients were included in the AV group if diagnosed with aortic stenosis (AS) or aortic regurgitation or had received AV replacement prior to OLT. The AV group (n = 53) was matched to a control group (n = 212) with the following preoperative variables: type of organ transplanted, age, gender, race, body mass index, MELD, redo-transplantation, preoperative renal replacement therapy, nonalcoholic steatohepatitis, viral hepatitis, diabetes, and coronary artery disease...
May 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28476435/a-multi-institutional-analysis-of-trimodality-therapy-for-esophageal-cancer-in-elderly-patients
#6
Scott C Lester, Steven H Lin, Michael Chuong, Neha Bhooshan, Zhongxing Liao, Andrea L Arnett, Sarah E James, Jaden D Evans, Grant M Spears, Ritsuko Komaki, Michael G Haddock, Minesh P Mehta, Christopher L Hallemeier, Kenneth W Merrell
PURPOSE: The therapeutic gains of neoadjuvant chemoradiation therapy (nCRT) followed by esophagectomy may be offset by increased incidences of morbidity and mortality in elderly patients. This study aimed to determine the impact of age on the risks and benefits of trimodality therapy for esophageal cancer. METHODS AND MATERIALS: We evaluated 571 patients treated with trimodality therapy at 3 high-volume tertiary cancer centers in the United States from 2007 to 2013...
February 20, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28468145/experiences-in-performing-posterior-calvarial-distraction
#7
Kevin McMillan, Mark Lloyd, Martin Evans, Nicholas White, Hiroshi Nishikawa, Desiderio Rodrigues, Melanie Sharp, Pete Noons, Guirish Solanki, Stephen Dover
The use of posterior calvarial distraction (PCD) for the management of craniosynostosis is well recognized. The advantages of using this technique include increased cranial volume, decreased intracranial pressure, relief of posterior fossa crowding, improved cerebrospinal fluid (CSF) circulation at the cranio-cervical junction with cessation, and possible resolution of syrinx.The authors retrospectively review their first 50 patients who have undergone PCD under the senior author's care in our unit.The demographics, diagnoses, intraoperative approach with techniques in distractor placement and outcomes of each patient were obtained through an electronic craniofacial database and written patient records...
May 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28460445/autoimmune-hematological-diseases-following-haploidentical-donor-hematopoietic-stem-cell-transplant-compared-with-matched-sibling-and-unrelated-donor
#8
Weiran Lv, Zhiping Fan, Fen Huang, Na Xu, Li Xuan, GuopanYu, Qianli Jiang, Hongsheng Zhou, Ren Lin, Xin Zhang, Jing Sun, Qifa Liu
Autoimmune hematological diseases (AHDs) occur more frequently than other autoimmune complications after allogeneic hematopoietic stem cell transplantation (allo-HSCT) and are often refractory to treatment. This study was to analyze the incidence and risk factors of AHDs as well as their response to treatment . Four hundred and forty-five adult malignant hematopoietic disorders underwent allo-HSCT were enrolled in this retrospective study, including 124 haploidentical donor (HRD), 140 unrelated donor (MUD) and 181 HLA-matched sibling donor (MSD) transplants...
April 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28458906/delayed-dyskinesia-and-prolonged-psychosis-in-a-patient-presenting-with-profound-hyponatraemia
#9
Victoria John, Philip Evans, Atul Kalhan
SUMMARY: A 65-year-old woman was admitted to the emergency unit with a 48 h history of generalised weakness and confusion. On examination, she had mild slurring of speech although there was no other focal neurological deficit. She had profound hyponatraemia (serum sodium level of 100 mmol/L) on admission with the rest of her metabolic parameters being within normal range. Subsequent investigations confirmed the diagnosis of small-cell lung cancer with paraneoplastic syndrome of inappropriate antidiuresis (SIAD)...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28457800/corrigendum-to-prevalence-and-predictors-of-obstructive-sleep-apnea-in-young-children-with-down-syndrome-sleep-med-27-28-2016-99-106
#10
Catherine M Hill, Hazel J Evans, Heather Elphick, Michael Farquhar, Ruth M Pickering, Ruth Kingshott, Jane Martin, Janine Reynolds, Anna Joyce, Carla Rush, Johanna C Gavlak, Paul Gringras
No abstract text is available yet for this article.
April 27, 2017: Sleep Medicine
https://www.readbyqxmd.com/read/28453471/a-randomized-double-blind-placebo-controlled-phase-ii-study-of-oral-elnd005-scyllo-inositol-in-young-adults-with-down-syndrome-without-dementia
#11
Michael S Rafii, Brian G Skotko, Mary Ellen McDonough, Margaret Pulsifer, Casey Evans, Eric Doran, Gabriela Muranevici, Patrick Kesslak, Susan Abushakra, Ira T Lott
BACKGROUND: ELND005 (scyllo-Inositol; cyclohexane-1,2,3,4,5,6-hexol) has been evaluated as a potential disease-modifying treatment for Alzheimer's disease (AD). Individuals with Down syndrome (DS) have an increased risk for developing AD dementia. OBJECTIVE: To evaluate the safety and tolerability of ELND005 and to determine its pharmacokinetics (PK) and relationship between PK parameters, safety outcome measures, and exploratory efficacy outcome measures in young adults with DS without dementia...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28452849/ipilimumab-induced-guillain-barr%C3%A3-syndrome-presenting-as-dysautonomia-an-unusual-presentation-of-a-rare-complication-of-immunotherapy
#12
W Kelly Wu, Kristy K Broman, Evan R Brownie, Rondi M Kauffmann
Immune-related adverse events are common and well-documented in patients treated with ipilimumab, a cytotoxic T-lymphocyte antigen-4 monoclonal antibody approved for the treatment of metastatic and stage III melanoma. Neurological complications are rare, but widely variable and potentially devastating. Here, we discuss a case of a patient who was treated with a single dose of ipilimumab for resected stage III melanoma. She subsequently developed pandysautonomia that manifested as a tonically dilated pupil, gastrointestinal dysmotility, urinary retention, and profound orthostatic hypotension...
June 2017: Journal of Immunotherapy
https://www.readbyqxmd.com/read/28451480/rare-complications-of-cervical-spine-surgery-horner-s-syndrome
#13
Vincent C Traynelis, Hani R Malone, Zachary A Smith, Wellington K Hsu, Adam S Kanter, Sheeraz A Qureshi, Samuel K Cho, Evan O Baird, Robert E Isaacs, Ra'Kerry K Rahman, Galina Polevaya, Justin S Smith, Christopher Shaffrey, P Justin Tortolani, D Alex Stroh, Paul M Arnold, Michael G Fehlings, Thomas E Mroz, K Daniel Riew
STUDY DESIGN: A multicenter retrospective case series. OBJECTIVE: Horner's syndrome is a known complication of anterior cervical spinal surgery, but it is rarely encountered in clinical practice. To better understand the incidence, risks, and neurologic outcomes associated with Horner's syndrome, a multicenter study was performed to review a large collective experience with this rare complication. METHODS: We conducted a retrospective multicenter case series study involving 21 high-volume surgical centers from the AOSpine North America Clinical Research Network...
April 2017: Global Spine Journal
https://www.readbyqxmd.com/read/28444729/benefits-of-rituximab-as-a-second-line-treatment-for-autoimmune-haemolytic-anaemia-in-children-a-prospective-french-cohort-study
#14
Stéphane Ducassou, Guy Leverger, Helder Fernandes, Hervé Chambost, Yves Bertrand, Corinne Armari-Alla, Brigitte Nelken, Fabrice Monpoux, Corinne Guitton, Thierry Leblanc, Alain Fisher, Odile Lejars, Eric Jeziorski, Fanny Fouissac, Patrick Lutz, Marlène Pasquet, Isabelle Pellier, Christophe Piguet, Philippe Vic, Sophie Bayart, Aude Marie-Cardine, Marc Michel, Yves Perel, Nathalie Aladjidi
Childhood autoimmune haemolytic anaemia (AIHA) requires second-line immunosuppressive therapy in 30-50% of cases. It appears that rituximab is indicated in such circumstances. This prospective national study reports the practice, efficacy and tolerance of rituximab in children with isolated AIHA and AIHA in the setting of Evans syndrome (ES). Sixty-one children were given rituximab between 2000 and 2014. The median interval from diagnosis to rituximab was 9·9 [interquartile range (IQR) 1·6-28·5] months. Forty-six patients responded (75%) and the 6-year relapse-free survival (RFS) was 48%...
April 26, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/28441951/minimal-clinically-important-difference-for-the-6-min-walk-test-literature-review-and-application-to-morquio-a-syndrome
#15
REVIEW
Rudolf Schrover, Kathryn Evans, Roberto Giugliani, Ian Noble, Kaustuv Bhattacharya
Morquio A syndrome is an ultra-rare, inherited lysosomal storage disorder associated with progressive, multi-systemic clinical impairments, causing gradual loss of functional capacity and endurance, impaired quality of life, and early mortality. Studies in Morquio A patients have used the 6-min walk test (6MWT) to assess functionality and endurance and to evaluate disease progression or efficacy of treatment. The objective of the present study was to review minimal clinically important differences (MCIDs) for the 6MWT reported for disease states that widely use the 6MWT to evaluate clinical benefit and to discuss the results in view of the challenges in estimating MCID for ultra-rare diseases, using the case of elosulfase alfa in Morquio A patients...
April 26, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28441409/a-hypomorphic-piga-gene-mutation-causes-severe-defects-in-neuron-development-and-susceptibility-to-complement-mediated-toxicity-in-a-human-ipsc-model
#16
Xuan Yuan, Zhe Li, Andrea C Baines, Eleni Gavriilaki, Zhaohui Ye, Zhexing Wen, Evan M Braunstein, Leslie G Biesecker, Linzhao Cheng, Xinzhong Dong, Robert A Brodsky
Mutations in genes involved in glycosylphosphatidylinositol (GPI) anchor biosynthesis underlie a group of congenital syndromes characterized by severe neurodevelopmental defects. GPI anchored proteins have diverse roles in cell adhesion, signaling, metabolism and complement regulation. Over 30 enzymes are required for GPI anchor biosynthesis and PIGA is involved in the first step of this process. A hypomorphic mutation in the X-linked PIGA gene (c.1234C>T) causes multiple congenital anomalies hypotonia seizure syndrome 2 (MCAHS2), indicating that even partial reduction of GPI anchored proteins dramatically impairs central nervous system development, but the mechanism is unclear...
2017: PloS One
https://www.readbyqxmd.com/read/28441279/congenital-etiology-is-an-independent-risk-factor-for-complications-in-adolescents-undergoing-corrective-scoliosis-surgery-comparison-of-in-hospital-comorbidities-using-nationwide-kid-s-inpatient-database
#17
Gregory W Poorman, Cyrus M Jalai, Bassel Diebo, Shaleen Vira, John Buza, Joe Baker, Jared Tishelman, Samantha Horn, Olivia Bono, Kartik Shenoy, Saqib Hasan, Justin Paul, Evan Isaacs, Ian Kaye, Abiola Atanda, Aaron J Buckland, Virginie LaFage, Thomas Errico, Peter G Passias
BACKGROUND: Congenital scoliosis (CS) is associated with more rigid, complex deformities relative to adolescent idiopathic scoliosis (AIS) which theoretically increases surgical complications. Despite extensive literature studying AIS patients, few studies have been performed on CS patients. The purpose of this study was to evaluate complications associated with spinal fusions for CS and AIS. METHODS: A retrospective review of the Kid's Inpatient Database (KID) years 2000 to 2009 was performed...
April 24, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28440889/a-glucagon-like-peptide-1-analog-liraglutide-improves-visceral-sensation-and-gut-permeability-in-rats
#18
Tsukasa Nozu, Saori Miyagishi, Shima Kumei, Rintaro Nozu, Kaoru Takakusaki, Toshikatsu Okumura
BACKGROUND AND AIM: A glucagon-like peptide-1 (GLP-1) analog, liraglutide, has been reported to block inflammatory somatic pain. We hypothesized that liraglutide attenuates lipopolysaccharide (LPS)- and repeated water avoidance stress (WAS)-induced visceral hypersensitivity and tested the hypothesis in rats. METHODS: The threshold of the visceromotor response (VMR) induced by colonic balloon distention was measured to assess visceral sensation. Colonic permeability was determined in vivo by quantifying the absorbed Evans blue spectrophotometrically, which was instilled in the proximal colon for 15 min...
April 25, 2017: Journal of Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28438206/exogenous-gene-transfer-of-rab-3-8-small-gtpase-ameliorates-aberrant-lung-surfactant-homeostasis-in-ruby-rats
#19
Kazuhiro Osanai, Keisuke Nakase, Takashi Sakuma, Kazuaki Nishiki, Masafumi Nojiri, Ryo Kato, Masatoshi Saito, Yuki Fujimoto, Shiro Mizuno, Hirohisa Toga
BACKGROUND: Rab(3)8 small GTPase regulates intracellular transport in melanocytes and alveolar type II epithelial cells. Ruby rats carrying Rab(3)8 and other gene mutations exhibit oculocutaneous albinism, bleeding diathesis, and hence, are a rat model of human Hermansky-Pudlak syndrome (HPS). We previously showed that Long Evans Cinnamon (LEC) rats, one strain of the Ruby rats, developed aberrant lung surfactant homeostasis with remarkably enlarged lamellar bodies in alveolar type II cells...
April 24, 2017: Respiratory Research
https://www.readbyqxmd.com/read/28433656/impaired-endothelium-derived-hyperpolarization-type-relaxation-in-superior-mesenteric-arteries-isolated-from-female-otsuka-long-evans-tokushima-fatty-rats
#20
Takayuki Matsumoto, Shota Kobayashi, Makoto Ando, Shun Watanabe, Maika Iguchi, Kumiko Taguchi, Tsuneo Kobayashi
Endothelium-derived hyperpolarization (EDH) is an important signaling mechanism of endothelium-dependent vasorelaxation, and little attention has been paid to the EDH-type responses in female metabolic syndrome such as that observed with type-2 diabetes. We previously reported that EDH-type relaxation was impaired in superior mesenteric arteries from male Otsuka Long-Evans Tokushima Fatty (OLETF) rat, a model of type-2 diabetes, however, the response was unclear in female OLETF rat. Thus, the aim of this study was to examine if EDH-type relaxation was altered in superior mesenteric arteries isolated from female OLETF rats compared to age-matched, control female Long-Evans Tokushima Otsuka (LETO) rats at age 50-59 weeks...
April 19, 2017: European Journal of Pharmacology
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