keyword
MENU ▼
Read by QxMD icon Read
search

Gordon syndrome

keyword
https://www.readbyqxmd.com/read/28738749/an-update-on-multiple-sclerosis-in-children-diagnosis-therapies-and-prospects-for-the-future
#1
Eliza Gordon-Lipkin, Brenda Banwell
Abstrac Introduction: Multiple sclerosis (MS), a chronic demyelinating disease of the central nervous system, is increasing being recognized in children and adolescents. Pediatric MS follows a relapsing-remitting course at onset, with a risk for early cognitive impairment. Areas Covered: In this review, we discuss the clinical features of acute demyelinating syndromes in children and risk factors that increase the likelihood of a diagnosis of MS. We also address the application of diagnostic criteria for MS in children, immunological features, therapeutic options and psychosocial considerations for children and adolescents with MS...
July 25, 2017: Expert Review of Clinical Immunology
https://www.readbyqxmd.com/read/28730607/concurrent-chondrodysplasia-punctata-type-2-conradi-hunermann-happle-syndrome-and-ichthyosis-vulgaris-in-teenaged-twin-girls
#2
Haneol S Jeong, Tara Funari, Katherine Gordon, Gabriele Richard, Nnenna G Agim
We present concurrent X-linked chondrodysplasia punctata and ichthyosis vulgaris in adolescent fraternal twin girls, notable for initial presentation with dry skin in adolescence, characterized by dark-brown scale typical of ichthyosis vulgaris and blaschkolinear, atrophic, scaly plaques. This constellation of findings prompted further genetic investigation. Using a multigene approach to examine 39 genes associated with congenital ichthyosis, next-generation sequencing revealed a novel heterozygous missense mutation at a mutational hotspot in the EBP gene c...
July 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28708421/relationship-between-race-and-the-effect-of-fluids-on-long-term-mortality-after-acute-respiratory-distress-syndrome-secondary-analysis-of-the-nhlbi-fluid-and-catheter-treatment-trial
#3
Sarah E Jolley, Catherine L Hough, Gilles Clermont, Douglas Hayden, Suqin Hou, David Schoenfeld, Nicholas L Smith, Boyd Taylor Thompson, Gordon R Bernard, Derek C Angus
RATIONALE: Short-term follow up in the Fluid and Catheter Treatment Trial (FACTT) suggested differential mortality by race with conservative fluid management, but no significant interaction. OBJECTIVE: In a post-hoc analysis of FACTT including one-year follow up, we sought to estimate long-term mortality by race and test for an interaction between fluids and race. METHODS: Post-hoc analysis of FACTT and the Economic Analysis of Pulmonary Artery Catheters (EAPAC) study (included 655 of the 1000 FACTT patients with near complete one-year follow up)...
July 14, 2017: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/28696129/gender-dysphoria-in-klinefelter-s-syndrome-three-cases
#4
Gordon W Davies, John Parkinson
BACKGROUND: Previous reports have found the incidence of gender dysphoria in Klinefelter's patients greater than in the general male population. METHODS: A cohort of patients with gender dysphoria was reviewed. RESULTS: Of the 220 patients with gender dysphoria, three had Klinefelter's syndrome. CONCLUSIONS: These three reports are further examples of gender dysphoria in Klinefelter's syndrome. The role of biological factors in gender identity is affirmed...
July 1, 2017: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/28690029/high-levels-of-soluble-gpr56-adgrg1-are-associated-with-positive-rheumatoid-factor-and-elevated-tumor-necrosis-factor-in-patients-with-rheumatoid-arthritis
#5
Wen-Yi Tseng, Yeong-Jian Jan Wu, Tai-Yun Yang, Nien-Yi Chiang, Wen-Pin Tsai, Siamon Gordon, Gin-Wen Chang, Chang-Fu Kuo, Shue-Fen Luo, Hsi-Hsien Lin
BACKGROUND: GPR56/ADGRG1 is a member of the adhesion-class G protein-coupled receptor (aGPCR) family important in brain development, oncogenesis and tumor metastasis. Like other aGPCRs, GPR56 is cleaved at the GPCR proteolysis site (GPS) motif into an N-terminal fragment (NTF) and a C-terminal fragment (CTF). Existence of soluble GPR56 (sGPR56) has been shown in vitro, however the underlying mechanism and its pathophysiologic role remains undetermined. OBJECTIVE: To assess the presence of sGPR56 in human serum using ELISA assay and compare the serum sGPR56 levels among patients of various chronic inflammatory diseases and healthy subjects...
June 28, 2017: Journal of Microbiology, Immunology, and Infection, Wei Mian Yu Gan Ran za Zhi
https://www.readbyqxmd.com/read/28666132/neuropsychological-function-in-relation-to-dysmenorrhea-in-adolescents
#6
Afsane Bahrami, Hamidreza Sadeghnia, Amir Avan, Seyed Jamal Mirmousavi, Alireza Moslem, Saeed Eslami, Masoud Heshmati, Hamidreza Bahrami-Taghanaki, Gordon A Ferns, Majid Ghayour-Mobarhan
OBJECTIVE: Hormonal variations during the menstrual cycle may affect emotional regulation. We aimed to investigate the association between dysmenorrhea (the severe abdominal pain and cramps associated with menstruation) and cognitive abilities, emotional function and sleep patterns in adolescent girls. Moreover, we evaluated the frequency of premenstrual syndrome (PMS) in our population and then divided them into 4 groups: subjects with only PMS; subjects with only dysmenorrhea; individuals with both PMS and dysmenorrhea and normal subjects...
June 21, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28650483/disease-model-discovery-from-3-328-gene-knockouts-by-the-international-mouse-phenotyping-consortium
#7
Terrence F Meehan, Nathalie Conte, David B West, Julius O Jacobsen, Jeremy Mason, Jonathan Warren, Chao-Kung Chen, Ilinca Tudose, Mike Relac, Peter Matthews, Natasha Karp, Luis Santos, Tanja Fiegel, Natalie Ring, Henrik Westerberg, Simon Greenaway, Duncan Sneddon, Hugh Morgan, Gemma F Codner, Michelle E Stewart, James Brown, Neil Horner, Melissa Haendel, Nicole Washington, Christopher J Mungall, Corey L Reynolds, Juan Gallegos, Valerie Gailus-Durner, Tania Sorg, Guillaume Pavlovic, Lynette R Bower, Mark Moore, Iva Morse, Xiang Gao, Glauco P Tocchini-Valentini, Yuichi Obata, Soo Young Cho, Je Kyung Seong, John Seavitt, Arthur L Beaudet, Mary E Dickinson, Yann Herault, Wolfgang Wurst, Martin Hrabe de Angelis, K C Kent Lloyd, Ann M Flenniken, Lauryl M J Nutter, Susan Newbigging, Colin McKerlie, Monica J Justice, Stephen A Murray, Karen L Svenson, Robert E Braun, Jacqueline K White, Allan Bradley, Paul Flicek, Sara Wells, William C Skarnes, David J Adams, Helen Parkinson, Ann-Marie Mallon, Steve D M Brown, Damian Smedley
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests...
June 26, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28647097/type-a-dissections-in-patients-with-marfan-syndrome-when-less-is-not-more
#8
EDITORIAL
Jennifer J Chung, Jonathan Gordon, Pavan Atluri
No abstract text is available yet for this article.
May 31, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28637418/anti-inflammatory-effect-of-crocus-sativus-on-the-serum-cytokines-levels-in-subjects-with-metabolic-syndrome-a-randomized-double-blind-placebo-controlled-trial
#9
Tayebe Kermani, Maedeh Zebarjadi, Hassan Mehrad-Majd, Seyed-Reza Mirhafez, Maryam Shemshian, Faezeh Ghasemi, Elham Mohammadzadeh, Seyed Hadi Mousavi, Abdolreza Norouzy, Toktam Moghiman, Akram Sadeghi, Gordon Ferns, Amir Avan, Elaheh Mahdipour, Majid Ghayour-Mobarhan
BACKGROUND/AIMS: A growing body of evidence supports an important role of inflammatory-cytokines in development and progression of metabolic-syndrome (MetS), which explain, at least in part, its relationship with an increased cardiovascular-risk. Several studies have reported the therapeutic-impact of crocus-sativus in preclinical/clinical setting. Here we have explored the effects of crocus-sativus, saffron, on the modulation of twelve serum cytokines in subjects with MetS in a randomized control trial...
June 21, 2017: Current Clinical Pharmacology
https://www.readbyqxmd.com/read/28624388/geo-economic-variations-in-epidemiology-patterns-of-care-and-outcomes-in-patients-with-acute-respiratory-distress-syndrome-insights-from-the-lung-safe-prospective-cohort-study
#10
John G Laffey, Fabiana Madotto, Giacomo Bellani, Tài Pham, Eddy Fan, Laurent Brochard, Pravin Amin, Yaseen Arabi, Ednan K Bajwa, Alejandro Bruhn, Vladimir Cerny, Kevin Clarkson, Leo Heunks, Kiyoyasu Kurahashi, Jon Henrik Laake, Jose A Lorente, Lia McNamee, Nicolas Nin, Jose Emmanuel Palo, Lise Piquilloud, Haibo Qiu, Juan Ignacio Silesky Jiménez, Andres Esteban, Daniel F McAuley, Frank van Haren, Marco Ranieri, Gordon Rubenfeld, Hermann Wrigge, Arthur S Slutsky, Antonio Pesenti
BACKGROUND: Little information is available about the geo-economic variations in demographics, management, and outcomes of patients with acute respiratory distress syndrome (ARDS). We aimed to characterise the effect of these geo-economic variations in patients enrolled in the Large Observational Study to Understand the Global Impact of Severe Acute Respiratory Failure (LUNG SAFE). METHODS: LUNG SAFE was done during 4 consecutive weeks in winter, 2014, in a convenience sample of 459 intensive-care units in 50 countries across six continents...
June 14, 2017: Lancet Respiratory Medicine
https://www.readbyqxmd.com/read/28614003/biochemical-control-during-long-term-follow-up-of-230-adult-patients-with-cushing-s-disease-a-multi-center-retrospective-study
#11
Eliza B Geer, Ismat Shafiq, Murray B Gordon, Vivien Bonert, Alejandro Ayala, Ronald S Swerdloff, Laurence Katznelson, Yelena Lalazar, Ekaterina Manuylova, Karen J Pulaski-Liebert, John D Carmichael, Zeina Hannoush, Vijaya Surampudi, Michael S Broder, Dasha Cherepanov, Marianne Eagan, Jackie Lee, Qayyim Said, Maureen P Neary, Beverly Mk Biller
OBJECTIVES: Cushing's disease (CD) results from excessive exposure to glucocorticoids caused by an adrenocorticotropic hormone-secreting pituitary tumor. Inadequately-treated CD is associated with significant morbidity and elevated mortality. Multi-center data on CD patients treated in routine clinical practice are needed to assess treatment outcomes in this rare disorder. The study purpose was to describe the burden of illness and treatment outcomes for CD patients. METHODS: Eight pituitary centers in 4 US regions participated in this multi-center retrospective chart review study...
June 14, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28596995/cardiac-myosin-binding-protein-c-autoantibodies-are-potential-early-indicators-of-cardiac-dysfunction-and-patient-outcome-in-acute-coronary-syndrome
#12
Thomas L Lynch, Diederik W D Kuster, Beverly Gonzalez, Neelam Balasubramanian, Nandini Nair, Sharlene Day, Jenna E Calvino, Yanli Tan, Christoph Liebetrau, Christian Troidl, Christian W Hamm, Ahmet Güçlü, Barbara McDonough, Ali J Marian, Jolanda van der Velden, Christine E Seidman, Gordon S Huggins, Sakthivel Sadayappan
The degradation and release of cardiac myosin binding protein-C (cMyBP-C) upon cardiac damage may stimulate an inflammatory response and autoantibody (AAb) production. We determined whether the presence of cMyBP-C-AAbs associated with adverse cardiac function in CVD patients. Importantly, cMyBP-C-AAbs were significantly detected in ACS patient sera upon arrival to the emergency department, particularly in STEMI patients. Patients positive for cMyBP-C-AAbs had a reduced LVEF and elevated levels of clinical biomarkers of MI...
April 2017: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28593401/external-validation-of-a-biomarker-and-clinical-prediction-model-for-hospital-mortality-in-acute-respiratory-distress-syndrome
#13
Zhiguo Zhao, Nancy Wickersham, Kirsten N Kangelaris, Addison K May, Gordon R Bernard, Michael A Matthay, Carolyn S Calfee, Tatsuki Koyama, Lorraine B Ware
PURPOSE: Mortality prediction in ARDS is important for prognostication and risk stratification. However, no prediction models have been independently validated. A combination of two biomarkers with age and APACHE III was superior in predicting mortality in the NHLBI ARDSNet ALVEOLI trial. We validated this prediction tool in two clinical trials and an observational cohort. METHODS: The validation cohorts included 849 patients from the NHLBI ARDSNet Fluid and Catheter Treatment Trial (FACTT), 144 patients from a clinical trial of sivelestat for ARDS (STRIVE), and 545 ARDS patients from the VALID observational cohort study...
August 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/28576871/steap4-its-emerging-role-in-metabolism-and-homeostasis-of-cellular-iron-and-copper
#14
Rachel T Scarl, C Martin Lawrence, Hannah M Gordon, Craig S Nunemaker
Preserving energy homeostasis in the presence of stressors such as proinflammatory cytokines and nutrient overload is crucial to maintaining normal cellular function. Six-transmembrane epithelial antigen of the prostate 4 (STEAP4), a metalloreductase involved in iron and copper homeostasis, is thought to play a potentially important role in the cellular response to inflammatory stress. Genome-wide association studies have linked various mutations in STEAP4 with the development of metabolic disorders such as obesity, metabolic syndrome, and type 2 diabetes...
June 2, 2017: Journal of Endocrinology
https://www.readbyqxmd.com/read/28565822/molecular-and-cellular-impact-of-psoriasin-s100a7-on-the-healing-of-human-wounds
#15
Aravindan Rangaraj, Lin Ye, Andrew James Sanders, Patricia Elaine Price, Keith Gordon Harding, Wen Guo Jiang
Psoriasin, which is also known as S100A7, is a member of the S100 protein family, a group of calcium-responsive signalling proteins. Psoriasin expression remains high in patients with psoriasis, whereas it is downregulated in patients with invasive breast carcinoma. This observation suggests that this protein may be a notable marker of keratinocyte function and differentiation during wound healing. The aim of the present study was to determine the cellular impact of Psoriasin in keratinocytes, which are the primary cell type associated with wound healing...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28555406/investigation-of-previously-implicated-genetic-variants-in-chronic-tic-disorders-a-transmission-disequilibrium-test-approach
#16
Mohamed Abdulkadir, Douglas Londono, Derek Gordon, Thomas V Fernandez, Lawrence W Brown, Keun-Ah Cheon, Barbara J Coffey, Lonneke Elzerman, Carolin Fremer, Odette Fründt, Blanca Garcia-Delgar, Donald L Gilbert, Dorothy E Grice, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Ewgeni Jakubovski, Young Key Kim, Young Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Bennett Leventhal, Andrea G Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Pablo Mir, Astrid Morer, Kirsten Müller-Vahl, Alexander Münchau, Tara L Murphy, Kerstin J Plessen, Veit Roessner, Eun-Young Shin, Dong-Ho Song, Jungeun Song, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H Zinner, Robert A King, Jay A Tischfield, Gary A Heiman, Pieter J Hoekstra, Andrea Dietrich
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort...
May 29, 2017: European Archives of Psychiatry and Clinical Neuroscience
https://www.readbyqxmd.com/read/28545363/sleep-wake-patterns-and-cognition-of-older-adults-with-amnestic-mild-cognitive-impairment-amci-a-comparison-with-cognitively-healthy-adults-and-moderate-alzheimer-s-disease-patients
#17
Emma J Wams, Gordon K Wilcock, Russell G Foster, Katharina Wulff
Age-related cognitive impairment and the prevalence of neurodegenerative disease contribute to decreasing quality of life in affected individuals and their families as well as demand considerable societal responsibility. Sleep supports overall brain activity and contributes to both physical and mental health. As a result sleep is an attractive target for exploring ways to promote health in accelerated cognitive aging. The aims of this study were to characterise cognitive performance and sleep-wake behaviour in older adults with different degrees of cognitive impairment...
May 22, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28537398/discovery-of-clinical-candidate-2-2s-6s-2-phenyl-6-hydroxyadamantan-2-yl-1-3-hydroxyazetidin-1-yl-ethanone-bms-816336-an-orally-active-novel-selective-11%C3%AE-hydroxysteroid-dehydrogenase-type-1-inhibitor
#18
Xiang-Yang Ye, Stephanie Y Chen, Shung Wu, David S Yoon, Haixia Wang, Zhenqiu Hong, Stephen P O'Connor, Jun Li, James J Li, Lawrence J Kennedy, Steven J Walker, Akbar Nayeem, Steven Sheriff, Daniel M Camac, Vidyhashankar Ramamurthy, Paul E Morin, Rachel Zebo, Joseph R Taylor, Nathan N Morgan, Randolph P Ponticiello, Thomas Harrity, Atsu Apedo, Rajasree Golla, Ramakrishna Seethala, Mengmeng Wang, Timothy W Harper, Bogdan G Sleczka, Bin He, Mark Kirby, David K Leahy, Jianqing Li, Ronald L Hanson, Zhiwei Guo, Yi-Xin Li, John D DiMarco, Raymond Scaringe, Brad Maxwell, Frederick Moulin, Joel C Barrish, David A Gordon, Jeffrey A Robl
BMS-816336 (6n-2), a hydroxy-substituted adamantyl acetamide, has been identified as a novel, potent inhibitor against human 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) enzyme (IC50 3.0 nM) with >10000-fold selectivity over human 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2). 6n-2 exhibits a robust acute pharmacodynamic effect in cynomolgus monkeys (ED50 0.12 mg/kg) and in DIO mice. It is orally bioavailable (%F ranges from 20 to 72% in preclinical species) and has a predicted pharmacokinetic profile of a high peak to trough ratio and short half-life in humans...
June 22, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28532247/high-sensitivity-cardiac-troponin-t-in-patients-not-having-an-acute-coronary-syndrome-results-from-the-trapid-ami-study
#19
Richard Nowak, Christian Mueller, Evangelos Giannitsis, Michael Christ, Jordi Ordonez-Llanos, Christopher DeFilippi, James McCord, Richard Body, Mauro Panteghini, Tomas Jernberg, Mario Plebani, Franck Verschuren, John K French, Robert Christenson, Gordon Jacobsen, Carina Dinkel, Bertil Lindahl
PURPOSE: To describe the baseline, 1 hr and delta high sensitivity cardiac troponin (hs-cTnT) values in patients with suspected acute myocardial infarction (AMI) but without a final acute coronary syndrome (ACS) diagnosis. MATERIALS AND METHODS: hs-cTnT assay for RAPID rule out of acute myocardial infarction (TRAPID-AMI) was a prospective diagnostic trial that enrolled emergency department (ED) patients with suspected AMI. Final patient diagnoses were adjudicated by a clinical events committee and subjects placed in different clinical groups: AMI, unstable angina, non-ACS cardiac, non-cardiac and unknown origin...
June 14, 2017: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/28521790/unintentional-drowning-role-of-medicinal-drugs-and-alcohol
#20
Tuulia Pajunen, Erkki Vuori, Frank F Vincenzi, Pirjo Lillsunde, Gordon Smith, Philippe Lunetta
BACKGROUND: Alcohol is a well-known risk factor in unintentional drownings. Whereas psychotropic drugs, like alcohol, may cause psychomotor impairment and affect cognition, no detailed studies have focused on their association with drowning. Finland provides extensive post-mortem toxicological data for studies on drowning because of its high medico-legal autopsy rates. METHODS: Drowning cases, 2000 through 2009, for which post-mortem toxicological analysis was performed, came from the database of the Toxicological Laboratory, Department of Forensic Medicine, University of Helsinki, using the ICD-10 nature-of-injury code T75...
May 19, 2017: BMC Public Health
keyword
keyword
51030
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"