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Gordon syndrome

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https://www.readbyqxmd.com/read/28425575/high-dose-supplementation-of-vitamin-d-affects-measures-of-systemic-inflammation-reductions-in-high-sensitivity-c-reactive-protein-level-and-neutrophil-to-lymphocyte-ratio-nlr-distribution
#1
Seyed-Amir Tabatabaeizadeh, Amir Avan, Afsane Bahrami, Ezzat Khodashenas, Habibollah Esmaeili, Gordon A Ferns, Mojtaba Fattahi Abdizadeh, Majid Ghayour-Mobarhan
BACKGROUND: The prevalence of Vitamin D deficiency is increasing worldwide, which has be shown to be associated with increased risk of cardiovascular disease (CVD), autoimmune disease and metabolic syndrome. These conditions are also associated with a heightened state of inflammation. The aim of the current study was to evaluate the effect of vitamin D supplementation on serum C - reactive protein (CRP) level and Neutrophil-to-lymphocyte ratio (NLR) distribution in a large cohort of adolescent girls...
April 20, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28420578/metabolic-syndrome-and-its-components-are-related-to-psychological-disorders-a-population-based-study
#2
Mohammad Bagherniya, Sayyed Saeid Khayyatzadeh, Amir Avan, Mohammad Safarian, Mohsen Nematy, Gordon A Ferns, Naghmeh Mokhber, Majid Ghayour-Mobarhan
BACKGROUND: Psychological disorders are considered as today's one of the most important public health problems all around the world. Another alarming condition, which attributed to cardiovascular disease (CVD) is metabolic syndrome (Mets). The aims of the current study were to explore (1) the prevalence of anxiety and depression in a large representative population of Iran, and (2) evaluate their possible association with MetS patients. METHOD: Applying a randomized stratified-cluster approach, 9829 adults, aged 35-65 years, were recruited as part of the MASHAD study...
April 6, 2017: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/28388932/the-efficacy-of-sodium-benzoate-as-an-adjunctive-treatment-in-early-psychosis-cadence-bz-study-protocol-for-a-randomized-controlled-trial
#3
Alex Ryan, Andrea Baker, Frances Dark, Sharon Foley, Anne Gordon, Sean Hatherill, Stephen Stathis, Sukanta Saha, George Bruxner, Martin Beckman, Drew Richardson, Michael Berk, Olivia Dean, John McGrath, Cadence Working Group, James Scott
BACKGROUND: Psychotic disorders affect up to 3% of the population and are often chronic and disabling. Innovation in the pharmacological treatment of psychosis has remained stagnant in recent decades. In order to improve outcomes for those with psychotic disorders, we present a protocol for the trial of a common food preservative, sodium benzoate, as an adjunctive treatment in early psychosis. METHODS: Persons experiencing early psychosis (n = 160) will be recruited through hospitals and community mental health services in Queensland, Australia...
April 7, 2017: Trials
https://www.readbyqxmd.com/read/28370228/pharmacologic-treatment-of-cannabinoid-hyperemesis-syndrome-a-systematic-review
#4
John R Richards, Brent K Gordon, Aaron R Danielson, Aimee K Moulin
OBJECTIVE: Cannabinoid hyperemesis syndrome (CHS) has become more prevalent with increasing cannabis use. CHS is often resistant to standard antiemetics. The objective of this study is to review the current evidence for pharmacologic treatment of CHS. METHODS: MEDLINE, PsycINFO, DARE, OpenGrey, Google Scholar, and the Cochrane Library were searched from inception to February 2017. Articles were selected and reviewed independently. Evidence was graded using Oxford CEBM guidelines...
March 31, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28328130/targeted-molecular-investigation-in-patients-within-the-clinical-spectrum-of-auriculocondylar-syndrome
#5
Vanessa L Romanelli Tavares, Roseli M Zechi-Ceide, Debora R Bertola, Christopher T Gordon, Simone G Ferreira, Gabriella S P Hsia, Guilherme L Yamamoto, Suzana A M Ezquina, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Renato S Freitas, Josiane Souza, Cesar A Raposo-Amaral, Mayana Zatz, Jeanne Amiel, Maria L Guion-Almeida, Maria Rita Passos-Bueno
Auriculocondylar syndrome, mainly characterized by micrognathia, small mandibular condyle, and question mark ears, is a rare disease segregating in an autosomal dominant pattern in the majority of the families reported in the literature. So far, pathogenic variants in PLCB4, GNAI3, and EDN1 have been associated with this syndrome. It is caused by a developmental abnormality of the first and second pharyngeal arches and it is associated with great inter- and intra-familial clinical variability, with some patients not presenting the typical phenotype of the syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28328122/a-novel-patient-with-an-attenuated-costello-syndrome-phenotype-due-to-an-hras-mutation-affecting-codon-146-literature-review-and-update
#6
Annie Ting Gee Chiu, Gordon Ka-Chun Leung, Yoyo Wing-Yiu Chu, Karen W Gripp, Brian Hon-Yin Chung
De novo germline mutations in HRAS cause Costello syndrome, with >95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of HRAS, c.436G > C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in <1% of patients with Costello syndrome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28321811/interleukin-2-old-and-new-approaches-to-enhance-immune-therapeutic-efficacy
#7
Pooja Dhupkar, Nancy Gordon
Interleukin-2 (IL-2) is a very well-known cytokine that has been studied for the past 35 years. It plays a major role in the growth and proliferation of many immune cells such NK and T cells. It is an important immunotherapy cytokine for the treatment of various diseases including cancer. Systemic delivery of IL-2 has shown clinical benefit in renal cell carcinoma and melanoma patients. However, its use has been limited by the numerous toxicities encountered with the systemic delivery. Intravenous IL-2 causes the well-known "capillary leak syndrome," or the leakage of fluid from the circulatory system to the interstitial space resulting in hypotension (low blood pressure), edema, and dyspnea that can lead to circulatory shock and eventually cardiopulmonary collapse and multiple organ failure...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28317311/novel-pathogenic-variants-in-foxp3-in-fetuses-with-echogenic-bowel-and-skin-desquamation-identified-by-ultrasound
#8
Raymond J Louie, Queenie K-G Tan, Jennifer B Gilner, R Curtis Rogers, Noelle Younge, Stephanie B Wechsler, Marie T McDonald, Barbara Gordon, Christopher A Saski, Julie R Jones, Shelley J Chapman, Roger E Stevenson, John W Sleasman, Michael J Friez
Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare, X-linked recessive disease that affects regulatory T cells (Tregs) resulting in diarrhea, enteropathy, eczema, and insulin-dependent diabetes mellitus. IPEX syndrome is caused by pathogenic alterations in FOXP3 located at Xp11.23. FOXP3 encodes a transcription factor that interacts with several partners, including NFAT and NF-κB, and is necessary for the proper cellular differentiation of Tregs. Although variable, the vast majority of IPEX syndrome patients have onset of disease during infancy with severe enteropathy...
March 20, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28285769/mutations-in-the-spliceosome-component-cwc27-cause-retinal-degeneration-with-or-without-additional-developmental-anomalies
#9
Mingchu Xu, Yajing Angela Xie, Hana Abouzeid, Christopher T Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S Osman, Rachayata Dharmat, Rosa Riveiro-Alvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel A Lopez-Martinez, Liliana F Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda-Sanchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T Soens, Lizhu Yang, Christine Bole-Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E Cheetham, Stanislas Lyonnet, Smriti A Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F Schorderet
Pre-mRNA splicing factors play a fundamental role in regulating transcript diversity both temporally and spatially. Genetic defects in several spliceosome components have been linked to a set of non-overlapping spliceosomopathy phenotypes in humans, among which skeletal developmental defects and non-syndromic retinitis pigmentosa (RP) are frequent findings. Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms...
April 6, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28267267/peripheral-neuropathy-in-prediabetes-and-the-metabolic-syndrome
#10
REVIEW
Amro M Stino, A Gordon Smith
Peripheral neuropathy is a major cause of disability worldwide. Diabetes is the most common cause of neuropathy, accounting for 50% of cases. Over half of people with diabetes develop neuropathy, and diabetic neuropathy (DPN) is a major cause of reduced quality of life due to pain, sensory loss, gait instability, fall related injury, and foot ulceration and amputation. Most patients with nondiabetic neuropathy have cryptogenic sensory peripheral neuropathy (CSPN). A growing body of literature links prediabetes, obesity and metabolic syndrome (MetS) to risk of both DPN and CSPN (CSPN-MetS)...
March 7, 2017: Journal of Diabetes Investigation
https://www.readbyqxmd.com/read/28240689/randomized-clinical-trial-of-a-combination-of-an-inhaled-corticosteroid-and-beta-agonist-in-patients-at-risk-of-developing-the-acute-respiratory-distress-syndrome
#11
Emir Festic, Gordon E Carr, Rodrigo Cartin-Ceba, Richard F Hinds, Valerie Banner-Goodspeed, Vikas Bansal, Adijat T Asuni, Daniel Talmor, Govindarajan Rajagopalan, Ryan D Frank, Ognjen Gajic, Michael A Matthay, Joseph E Levitt
OBJECTIVES: Effective pharmacologic treatments directly targeting lung injury in patients with the acute respiratory distress syndrome are lacking. Early treatment with inhaled corticosteroids and beta agonists may reduce progression to acute respiratory distress syndrome by reducing lung inflammation and enhancing alveolar fluid clearance. DESIGN: Double-blind, randomized clinical trial (ClinicalTrials.gov: NCT01783821). The primary outcome was longitudinal change in oxygen saturation divided by the FIO2 (S/F) through day 5...
May 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28237889/giardia-duodenalis-induces-pathogenic-dysbiosis-of-human-intestinal-microbiota-biofilms
#12
Jennifer K Beatty, Sarah V Akierman, Jean-Paul Motta, Stacy Muise, Matthew L Workentine, Joe J Harrison, Amol Bhargava, Paul L Beck, Kevin P Rioux, Gordon Webb McKnight, John L Wallace, Andre G Buret
Giardia duodenalis is a prevalent cause of acute diarrheal disease worldwide. However, recent outbreaks in Italy and Norway have revealed a link between giardiasis and the subsequent development of chronic post-infectious irritable bowel syndrome. While the mechanisms underlying the causation of post-infectious irritable bowel syndrome remain obscure, recent findings suggest that alterations in gut microbiota communities are linked to the pathophysiology of irritable bowel syndrome. In the present study, we use a laboratory biofilm system to culture and enrich mucosal microbiota from human intestinal biopsies...
February 22, 2017: International Journal for Parasitology
https://www.readbyqxmd.com/read/28222034/three-cases-of-gordon-syndrome-with-dominant-klhl3-mutations
#13
Ji Soo Park, Eujin Park, Hye Sun Hyun, Yo Han Ahn, Hee Gyung Kang, Il-Soo Ha, Hae Il Cheong
BACKGROUND: Gordon syndrome (GS) is a rare form of monogenic hypertension characterized by low renin hypertension, hyperkalemia, hyperchloremic metabolic acidosis, and normal glomerular filtration rate. To date, four genes causing GS have been identified as: WNK1, WNK4, CUL3, and KLHL3. CASE PRESENTATION: We report three cases of GS in two families. All patients presented with typical clinical features of GS and had a known dominant KLHL3 mutation. Oral thiazide treatment with low salt diet resulted in normalization of blood pressure and serum electrolytes in all three cases...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28216087/neural-consequences-of-post-exertion-malaise-in-myalgic-encephalomyelitis-chronic-fatigue-syndrome
#14
Dane B Cook, Alan R Light, Kathleen C Light, Gordon Broderick, Morgan R Shields, Ryan J Dougherty, Jacob D Meyer, Stephanie VanRiper, Aaron J Stegner, Laura D Ellingson, Suzanne D Vernon
Post exertion malaise is one of the most debilitating aspects of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, yet the neurobiological consequences are largely unexplored. The objective of the study was to determine the neural consequences of acute exercise using functional brain imaging. Fifteen female Myalgic Encephalomyelitis/Chronic Fatigue Syndrome patients and 15 healthy female controls completed 30min of submaximal exercise (70% of peak heart rate) on a cycle ergometer. Symptom assessments (e.g...
February 17, 2017: Brain, Behavior, and Immunity
https://www.readbyqxmd.com/read/28198120/effects-of-curcumin-on-serum-vitamin-e-concentrations-in-individuals-with-metabolic-syndrome
#15
Akram Mohammadi, Hamid Reza Sadeghnia, Maryam Saberi-Karimian, Hamideh Safarian, Gordon A Ferns, Majid Ghayour-Mobarhan, Amirhossein Sahebkar
Vitamin E is an important lipid-soluble antioxidant. The aim of the present study was to investigate the effect of curcumin on serum vitamin E levels in subjects with metabolic syndrome (MetS). A total of 120 subjects aged 18-65 years old with MetS were recruited in this study according to the International Diabetic Federation Criteria. Included subjects were randomized into three groups: subjects receiving lecithinized curcumin (1 g/day equivalent to 200-mg pure curcumin per day) for a period of 6 weeks )n = 40), patients receiving unformulated curcumin (1 g/day) for a period of 6 weeks )n = 40) and a control group receiving placebo for the same period (n = 40)...
February 15, 2017: Phytotherapy Research: PTR
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#16
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28157386/fifty-years-of-research-in-ards-the-epidemiology-of-ards-a-fiftieth-birthday-review
#17
Tài Pham, Gordon D Rubenfeld
Since its first description 50 years ago, no other ICU syndrome has been as extensively studied as ARDS. Nevertheless intensivists' favorite darling has not revealed all its secrets yet and many epidemiological questions remain unsolved. The lack of gold standard tests jeopardizes accurate diagnosis, leading to uncertainties in the actual incidence of this syndrome across different areas with reported ranges as wide as 3.65 to 81 cases per 100,000 persons-year. Likewise evaluation of its evolution over time is difficult due to changes in ARDS definition and under-recognition by clinicians...
February 3, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28126717/reply-to-roerink-et-al-metabolomics-of-chronic-fatigue-syndrome
#18
Robert K Naviaux, Eric Gordon
No abstract text is available yet for this article.
February 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28104770/decline-in-cardiovascular-mortality-possible-causes-and-implications
#19
REVIEW
George A Mensah, Gina S Wei, Paul D Sorlie, Lawrence J Fine, Yves Rosenberg, Peter G Kaufmann, Michael E Mussolino, Lucy L Hsu, Ebyan Addou, Michael M Engelgau, David Gordon
If the control of infectious diseases was the public health success story of the first half of the 20th century, then the decline in mortality from coronary heart disease and stroke has been the success story of the century's past 4 decades. The early phase of this decline in coronary heart disease and stroke was unexpected and controversial when first reported in the mid-1970s, having followed 60 years of gradual increase as the US population aged. However, in 1978, the participants in a conference convened by the National Heart, Lung, and Blood Institute concluded that a significant recent downtick in coronary heart disease and stroke mortality rates had definitely occurred, at least in the US Since 1978, a sharp decline in mortality rates from coronary heart disease and stroke has become unmistakable throughout the industrialized world, with age-adjusted mortality rates having declined to about one third of their 1960s baseline by 2000...
January 20, 2017: Circulation Research
https://www.readbyqxmd.com/read/28095146/phase-i-first-in-human-study-of-venetoclax-in-patients-with-relapsed-or-refractory-non-hodgkin-lymphoma
#20
Matthew S Davids, Andrew W Roberts, John F Seymour, John M Pagel, Brad S Kahl, William G Wierda, Soham Puvvada, Thomas J Kipps, Mary Ann Anderson, Ahmed Hamed Salem, Martin Dunbar, Ming Zhu, Franklin Peale, Jeremy A Ross, Lori Gressick, Monali Desai, Su Young Kim, Maria Verdugo, Rod A Humerickhouse, Gary B Gordon, John F Gerecitano
Purpose B-cell leukemia/lymphoma-2 (BCL-2) overexpression is common in many non-Hodgkin lymphoma (NHL) subtypes. A phase I trial in patients with NHL was conducted to determine safety, pharmacokinetics, and efficacy of venetoclax, a selective, potent, orally bioavailable BCL-2 inhibitor. Patients and Methods A total of 106 patients with relapsed or refractory NHL received venetoclax once daily until progressive disease or unacceptable toxicity at target doses from 200 to 1,200 mg in dose-escalation and safety expansion cohorts...
March 10, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
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