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https://www.readbyqxmd.com/read/29904317/rapid-and-complete-vision-loss-due-to-idiopathic-orbital-inflammation-with-partial-recovery-following-orbital-decompression
#1
Ivan Vrcek, Evan Wotipka, Marie Somogyi, Tanuj Nakra
We present a case of a 36-year-old man who developed rapid onset of proptosis and orbital compartment syndrome resulting in no light perception vision. He was treated with surgery and subsequent rituximab therapy with some recovery of vision and motility. Though the range of presentations of idiopathic orbital inflammation is broad, such rapid evolution of proptosis with complete vision loss is very uncommon.
July 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29896406/first-case-report-of-human-infection-with-mycobacterium-stomatepiae
#2
Jared Weston, Sushil Pandey, Evan Matthews, Evan Bursle
Introduction: We describe the first detailed case report of human infection with Mycobacterium stomatepiae . Infection with non-tuberculous mycobacteria (NTM) related to M. stomatepiae is well described, despite the lack of previous confirmed reports of M. stomatepiae- related human disease. Localised cervical lymphadenitis is the most common NTM disease in children, with species closely related to M. stomatepiae, such as Mycobacterium triplex and Mycobacterium florentinum , having been shown to be rare causative agents...
May 2018: JMM Case Reports
https://www.readbyqxmd.com/read/29891267/the-management-of-persistent-and-recurrent-cubital-tunnel-syndrome
#3
REVIEW
Louis C Grandizio, Steven Maschke, Peter J Evans
Cubital tunnel syndrome (CuTS) is the second most common compressive neuropathy in the upper extremity. There are considerable diagnostic and therapeutic challenges associated with treating patients after a failed primary procedure for CuTS. Distinguishing cases of recurrence versus persistence and identifying concomitant pathology can guide treatment. Conditions that mimic CuTS must be carefully ruled out and coexisting dysfunction of the medial antebrachial cutaneous nerve needs to be addressed. Results of revision procedures are not as reliable as primary procedures for CuTS; however, improvements in pain and paresthesias are noted in approximately 75% of patients...
June 8, 2018: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29883861/understanding-the-course-of-persistent-symptoms-in-schizophrenia-longitudinal-findings-from-the-pattern-study
#4
Josep Maria Haro, Carlo Altamura, Ricardo Corral, Helio Elkis, Jonathan Evans, Marie-Odile Krebs, Mathias Zink, Ashok Malla, José Ignacio Méndez, Corrado Bernasconi, Justine Lalonde, Anna-Lena Nordstroem
The Pattern study was conducted to provide longitudinal observational data for individual patients with persistent symptoms of schizophrenia. Pattern is an international, multicenter, non-interventional, prospective cohort study of schizophrenia outpatients who were not considered to be in recovery. In the longitudinal phase reported herein, patients were assessed over 1 year using different clinical rating scales. Patient management followed routine local clinical practice. Primary outcome was disease state, defined by the Positive and Negative Syndrome Scale (PANSS), Negative Symptom Factor Score (NSFS), Positive Symptom Factor Score (PSFS), and Personal and Social Performance (PSP) Scale...
April 10, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29879405/wilms-tumor-after-orthotopic-liver-transplant-in-a-patient-with-alagille-syndrome-%C3%A2-%C3%A2-%C3%A2
#5
Evan C Carlos, Divya Ajay, Saisha Muniz-Alers, Daniel S Wechsler, Deepak Vikraman Sushama, Henry E Rice, John Madden, Jonathan C Routh
We present a case of Wilms Tumor in a patient with Alagille syndrome ten months after liver transplant. We explore a suggested genetic connection between these two diseases. In children with Wilms Tumor, we propose a patho-embryologic explanation for not just the tumor, but also for the cause of associated benign ureteral and renal parenchymal aberrancies that are commonly seen in the Alagille population. We also discuss the diagnostic and therapeutic challenges that can arise in a liver transplant patient with Alagille syndrome who subsequently develops a renal mass...
June 4, 2018: Urology
https://www.readbyqxmd.com/read/29878556/full-nutrition-or-not
#6
Mary F Stuever, Ryan F Kidner, Floria E Chae, David C Evans
Enteral nutrition (EN) is widely used in intensive care units around the world, but the optimal dosing strategy during the first week of critical illness is still controversial. Numerous studies in the past decade have provided conflicting recommendations regarding the roles of trophic and permissive/intentional underfeeding strategies. Further complicating effective medical decision making is the widespread, yet unintentional and persistent underdelivery of prescribed energy and protein, in addition to the trend for recommending ever-higher amounts of protein delivery...
June 2018: Nutrition in Clinical Practice
https://www.readbyqxmd.com/read/29850420/syndromes-with-aortic-involvement-pictorial-review
#7
REVIEW
Evan J Zucker
A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS)...
April 2018: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/29846902/molecular-evaluation-of-a-sporadic-paraganglioma-with-concurrent-idh1-and-atrx-mutations
#8
Jing Zhang, Jingjing Jiang, Yu Luo, Xiaomu Li, Zhiqiang Lu, Yujun Liu, Jie Huang, Yingyong Hou, Ying Pang, Mitchell Yee Fong Sun, Tracy S Wang, Douglas B Evans, Karel Pacak, Zhengping Zhuang, Xin Gao
PURPOSE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of neural crest origin. Germline or somatic mutations of numerous genes have been implicated in the pathogenesis of PPGLs, including the isocitrate dehydrogenase 1 (IDH1) gene and alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene. Although concurrent IDH1 and ATRX mutations are frequently seen in gliomas, they have never been reported together in PPGLs. The aim of this study was to characterize one paraganglioma with concurrent IDH1 and ATRX mutations identified by whole exome sequencing...
May 30, 2018: Endocrine
https://www.readbyqxmd.com/read/29787425/a-metabolomic-serum-signature-from-nonhuman-primates-treated-with-a-radiation-countermeasure-gamma-tocotrienol-and-exposed-to-ionizing-radiation
#9
Evan L Pannkuk, Evagelia C Laiakis, Albert J Fornace, Oluseyi O Fatanmi, Vijay K Singh
The search for and development of radiation countermeasures to treat acute lethal radiation injury has been underway for the past six decades, resulting in the identification of multiple classes of radiation countermeasures. However, to date only granulocyte colony-stimulating factor (Neupogen) and PEGylated granulocyte colony-stimulating factor (Neulasta) have been approved by the U.S. Food and Drug Administration for the treatment of hematopoietic acute radiation syndrome. Gamma-tocotrienol has demonstrated radioprotective efficacy in murine and nonhuman primate models...
July 2018: Health Physics
https://www.readbyqxmd.com/read/29778387/major-depression-antidepressant-use-and-male-and-female-fertility
#10
Emily A Evans-Hoeker, Esther Eisenberg, Michael P Diamond, Richard S Legro, Ruben Alvero, Christos Coutifaris, Peter R Casson, Gregory M Christman, Karl R Hansen, Heping Zhang, Nanette Santoro, Anne Z Steiner
OBJECTIVE: To determine if maternal major depression (MD), antidepressant use, or paternal MD are associated with pregnancy outcomes after non-IVF fertility treatments. DESIGN: Cohort study. SETTING: Clinics. PATIENT(S): Participants in two randomized trials: PPCOS II (clomiphene citrate versus letrozole for polycystic ovary syndrome), and AMIGOS (gonadotropins versus clomiphene citrate versus letrozole for unexplained infertility)...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#11
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29760010/home-oximetry-to-screen-for-obstructive-sleep-apnoea-in-down-syndrome
#12
Catherine M Hill, Heather E Elphick, Michael Farquhar, Paul Gringras, Ruth M Pickering, Ruth N Kingshott, Jane Martin, Janine Reynolds, Anna Joyce, Johanna C Gavlak, Hazel J Evans
OBJECTIVE: Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic multichannel sleep studies. DESIGN: Cross-sectional prospective study in a training sample recruited through three UK centres. Validation sample used single-centre retrospective analysis of clinical data...
May 14, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29758323/why-do-vascular-surgeons-get-sued-analysis-of-claims-and-outcomes-in-malpractice-litigation
#13
John Phair, Eric B Trestman, Eddie Skripochnik, Evan C Lipsitz, Issam Koleilat, Larry A Scher
OBJECTIVE: To analyze causes and outcomes of malpractice claims against vascular surgeons in the United States. METHODS: Cases entered into the Westlaw database from January 1st 1999 to December 31st 2014 were reviewed. Search terms "vascular" and "surgeon" were used. Data was compiled on the allegation, subject matter and outcome of each case. Additional data including demographics of the defendant was obtained from U.S. News Health Reports on practicing physicians...
May 11, 2018: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/29754933/sleep-duration-and-sleep-quality-in-people-with-and-without-intellectual-disability-a-meta-analysis
#14
REVIEW
Andrew D R Surtees, Chris Oliver, Chris A Jones, David L Evans, Caroline Richards
This study provides the first meta-analysis of the purported differences in sleep time and sleep quality between people with and without intellectual disabilities. Twenty-one papers were identified that compared sleep time and/or sleep quality in people with and without intellectual disabilities. The meta-analysis of sleep time revealed that people with an intellectual disability slept for 18 min less, on average, than people without an intellectual disability. This significant difference was limited to those studies that tested groups of people with an identified genetic syndrome or developmental disorder...
November 28, 2017: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29750252/whole-exome-sequencing-of-an-exceptional-longevity-cohort
#15
Haakon B Nygaard, E Zeynep Erson-Omay, Xiujuan Wu, Brianne A Kent, Cecily Q Bernales, Daniel M Evans, Matthew J Farrer, Carles Vilariño-Güell, Stephen M Strittmatter
Centenarians represent a unique cohort to study the genetic basis for longevity and factors determining the risk of neurodegenerative disorders, including Alzheimer's disease (AD). The estimated genetic contribution to longevity is highest in centenarians and supercententenarians, but few genetic variants have been shown to clearly impact this phenotype. While the genetic risk for AD and other dementias is now well understood, the frequency of known dementia risk variants in centenarians is not fully characterized...
May 10, 2018: Journals of Gerontology. Series A, Biological Sciences and Medical Sciences
https://www.readbyqxmd.com/read/29747233/comparison-of-endoscopic-and-percutaneous-drainage-of-symptomatic-necrotic-collections-in-acute-necrotizing-pancreatitis
#16
Shanan Woo, Ryan Walklin, Travis Ackermann, Sheng Wei Lo, Hamish Shilton, Charles Pilgrim, Peter Evans, James Burnes, Daniel Croagh
INTRODUCTION: Primary endoscopic and percutaneous drainage for pancreatic necrotic collections is increasingly used. We aim to compare the relative effectiveness of both modalities in reducing the duration and severity of illness by measuring their effects on systemic inflammatory response syndrome (SIRS). METHODS: We retrospectively reviewed all cases of endoscopic and percutaneous drainage for pancreatic necrotic collections performed in 2011-2016 at two hospitals...
May 10, 2018: Asian Journal of Endoscopic Surgery
https://www.readbyqxmd.com/read/29738885/regulation-of-seizure-induced-mecp2-ser421-phosphorylation-in-the-developing-brain
#17
Evan C Rosenberg, Jocelyn J Lippman-Bell, Marcus Handy, Samantha S Soldan, Sanjay Rakhade, Cristina Hilario-Gomez, Kaitlyn Folweiler, Leah Jacobs, Frances E Jensen
Neonatal seizures disrupt normal synaptic maturation and often lead to later-life epilepsy and cognitive deficits. During early life, the brain exhibits heightened synaptic plasticity, in part due to a developmental overabundance of CaV 1.2 L-type voltage gated calcium (Ca2+ ) channels (LT-VGCCs) and Ca2+ -permeable AMPARs (CP-AMPARs) lacking GluA2 subunits. We hypothesized that early-life seizures overactivate these channels, in turn dysregulating Ca2+ -dependent signaling pathways including that of methyl-CPG-binding protein 2 (MeCP2), a transcription factor implicated in the autism spectrum disorder (ASD) Rett Syndrome...
May 5, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29724491/clinical-presentation-of-a-complex-neurodevelopmental-disorder-caused-by-mutations-in-adnp
#18
Anke Van Dijck, Anneke T Vulto-van Silfhout, Elisa Cappuyns, Ilse M van der Werf, Grazia M Mancini, Andreas Tzschach, Raphael Bernier, Illana Gozes, Evan E Eichler, Corrado Romano, Anna Lindstrand, Ann Nordgren, Malin Kvarnung, Tjitske Kleefstra, Bert B A de Vries, Sébastien Küry, Jill A Rosenfeld, Marije E Meuwissen, Geert Vandeweyer, R Frank Kooy
BACKGROUND: In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. METHODS: We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents...
March 15, 2018: Biological Psychiatry
https://www.readbyqxmd.com/read/29718253/adverse-effects-of-statin-therapy-perception-vs-the-evidence-focus-on-glucose-homeostasis-cognitive-renal-and-hepatic-function-haemorrhagic-stroke-and-cataract
#19
François Mach, Kausik K Ray, Olov Wiklund, Alberto Corsini, Alberico L Catapano, Eric Bruckert, Guy De Backer, Robert A Hegele, G Kees Hovingh, Terry A Jacobson, Ronald M Krauss, Ulrich Laufs, Lawrence A Leiter, Winfried März, Børge G Nordestgaard, Frederick J Raal, Michael Roden, Raul D Santos, Evan A Stein, Erik S Stroes, Paul D Thompson, Lale Tokgözoglu, Georgirene D Vladutiu, Baris Gencer, Jane K Stock, Henry N Ginsberg, M John Chapman
Aims: To objectively appraise evidence for possible adverse effects of long-term statin therapy on glucose homeostasis, cognitive, renal and hepatic function, and risk for haemorrhagic stroke or cataract. Methods and results: A literature search covering 2000-2017 was performed. The Panel critically appraised the data and agreed by consensus on the categorization of reported adverse effects. Randomized controlled trials (RCTs) and genetic studies show that statin therapy is associated with a modest increase in the risk of new-onset diabetes mellitus (about one per thousand patient-years), generally defined by laboratory findings (glycated haemoglobin ≥6...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29712475/developmental-delay-treatment-resistant-psychosis-and-early-onset-dementia-in-a-man-with-22q11-deletion-syndrome-and-huntington-s-disease
#20
Martilias Farrell, Maya Lichtenstein, James J Crowley, Dawn M Filmyer, Gabriel Lázaro-Muñoz, Rita A Shaughnessy, Ian R Mackenzie, Veronica Hirsch-Reinshagen, Robert Stowe, James P Evans, Jonathan S Berg, Jin Szatkiewicz, Richard C Josiassen, Patrick F Sullivan
No abstract text is available yet for this article.
May 1, 2018: American Journal of Psychiatry
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