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Gordon syndrome

Worawan B Limpitikul, Ivy E Dick, David Tester, Nicole J Boczek, Pattraranee Limphong, Wanjun Yang, Myoung Hyun Choi, Jennifer Babich, Deborah DiSilvestre, Ronald J Kanter, Gordon F Tomaselli, Michael J Ackerman, David Yue
RATIONALE: Calmodulinopathies comprise a new category of potentially life-threatening genetic arrhythmia syndromes capable of producing severe long QT syndrome (LQTS) with mutations involving either CALM1, CALM2, or CALM3 The underlying basis of this form of LQTS is a disruption of Ca(2+)/CaM-dependent inactivation (CDI) of L-type Ca(2+) channels (LTCCs). OBJECTIVE: To gain insight into the mechanistic underpinnings of calmodulinopathies and devise new therapeutic strategies for the treatment of this form of LQTS...
October 20, 2016: Circulation Research
John G Laffey, Giacomo Bellani, Tài Pham, Eddy Fan, Fabiana Madotto, Ednan K Bajwa, Laurent Brochard, Kevin Clarkson, Andres Esteban, Luciano Gattinoni, Frank van Haren, Leo M Heunks, Kiyoyasu Kurahashi, Jon Henrik Laake, Anders Larsson, Daniel F McAuley, Lia McNamee, Nicolas Nin, Haibo Qiu, Marco Ranieri, Gordon D Rubenfeld, B Taylor Thompson, Hermann Wrigge, Arthur S Slutsky, Antonio Pesenti
PURPOSE: To improve the outcome of the acute respiratory distress syndrome (ARDS), one needs to identify potentially modifiable factors associated with mortality. METHODS: The large observational study to understand the global impact of severe acute respiratory failure (LUNG SAFE) was an international, multicenter, prospective cohort study of patients with severe respiratory failure, conducted in the winter of 2014 in a convenience sample of 459 ICUs from 50 countries across five continents...
October 18, 2016: Intensive Care Medicine
Giacomo Bellani, John G Laffey, Tài Pham, Fabiana Madotto, Eddy Fan, Laurent Brochard, Andres Esteban, Luciano Gattinoni, Vesna Bumbasirevic, Lise Piquilloud, Frank van Haren, Anders Larsson, Daniel F McAuley, Philippe R Bauer, Yaseen M Arabi, Marco Ranieri, Massimo Antonelli, Gordon D Rubenfeld, B Taylor Thompson, Hermann Wrigge, Arthur S Slutsky, Antonio Pesenti
BACKGROUND: Non-invasive ventilation (NIV) is increasingly used in patients with Acute Respiratory Distress Syndrome (ARDS). Whether, during NIV, the categorization of ARDS severity based on the PaO2/FiO2 Berlin criteria is useful is unknown. The evidence supporting NIV use in patients with ARDS remains relatively sparse. METHODS: The Large observational study to UNderstand the Global impact of Severe Acute respiratory FailurE (LUNG SAFE) study described the management of patients with ARDS...
October 18, 2016: American Journal of Respiratory and Critical Care Medicine
Carol Ann Flavell, Susan Gordon, Laurence Marshman
BACKGROUND: Physiotherapists use musculo-skeletal classification systems for patient assessment. Since its early development, the McKenzie lumbar spine assessment (MK) has been incorporated into examination algorithms and combined with a series of patho-anatomical diagnostic tests. No previous studies have used a MK and a combined examination (MK-C) to provide a detailed profile of patients, report and compare the classification characteristics of a chronic low back pain (CLBP) population...
October 5, 2016: Manual Therapy
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
Seyyed Mohammad Reza Kazemi-Bajestani, Maryam Tayefi, Mahmoud Ebrahimi, Ali Reza Heidari-Bakavoli, Mohsen Moohebati, Seyyed Mohammad Reza Parizade, Habib-Allah Esmaeili, Gordon Ferns, Majid Ghayour-Mobarhan
BACKGROUND: Metabolic syndrome (MetS) is defined by a clustering of cardiovascular (CV) risk factors and is associated with a heightened inflammatory state. A raised serum high-sensitivity C-reactive protein (hs-CRP), a marker of inflammation, is also known to associate with CV risk. We have investigated the relationship between the presence of MetS and serum hs-CRP concentration in a large representative Persian population cohort without a history of cardiovascular disease (CVD). METHODS: The MASHAD study population cohort comprised 9 778 subjects, who were recruited from the city of Mashhad, Iran, between 2007 and 2008...
October 13, 2016: Annals of Clinical Biochemistry
Jeffrey L Carson, Gordon Guyatt, Nancy M Heddle, Brenda J Grossman, Claudia S Cohn, Mark K Fung, Terry Gernsheimer, John B Holcomb, Lewis J Kaplan, Louis M Katz, Nikki Peterson, Glenn Ramsey, Sunil V Rao, John D Roback, Aryeh Shander, Aaron A R Tobian
Importance: More than 100 million units of blood are collected worldwide each year, yet the indication for red blood cell (RBC) transfusion and the optimal length of RBC storage prior to transfusion are uncertain. Objective: To provide recommendations for the target hemoglobin level for RBC transfusion among hospitalized adult patients who are hemodynamically stable and the length of time RBCs should be stored prior to transfusion. Evidence Review: Reference librarians conducted a literature search for randomized clinical trials (RCTs) evaluating hemoglobin thresholds for RBC transfusion (1950-May 2016) and RBC storage duration (1948-May 2016) without language restrictions...
October 12, 2016: JAMA: the Journal of the American Medical Association
Franz Alisch, Alexander Weichert, Karim Kalache, Viola Paradiso, Ann Carolin Longardt, Christof Dame, Katrin Hoffmann, Denise Horn
Gordon syndrome or distal arthrogryposis type 3 is a rare autosomal dominant disorder characterized by contractures of upper and lower limbs. It is distinguishable from other forms of distal arthrogryposis by cleft palate and short stature. Recently, Gordon syndrome has been associated to heterozygous mutations in the piezo-type mechanosensitive ion channel component 2 gene (PIEZO2). Different mutations of this gene also cause distal arthrogryposis type 5 and Marden-Walker syndrome. Dysfunction of this ion channel provides pleiotropic effects on joints, ocular muscles, and bone development...
October 7, 2016: American Journal of Medical Genetics. Part A
Bapesh K Bollu, Michael J Dawrant, Kunal Thacker, Gordon Thomas, Murthy Chenapragadda, Kevin Gaskin, Albert Shun
PURPOSE: Inspissated bile syndrome (IBS) is a rare cause of obstructive jaundice in neonates and infants with several treatment options reported. We present our experience with the use of minimally invasive ultrasound-guided percutaneous cholecystostomy drain catheter placement with ongoing saline lavage in neonates and infants. METHODS: Retrospective chart review of patients treated with percutaneous cholecystostomy, from February 2010 till June 2015. We reviewed the technical and clinical success along with complications of the procedure...
September 20, 2016: Journal of Pediatric Surgery
Annie T G Chiu, Lixing Zhu, Gary T K Mok, Gordon K C Leung, C B Chow, Brian H Y Chung
Costello syndrome is a type of RASopathy mapped to HRAS gene in chromosome 11, characterized by prenatal overgrowth, postnatal failure to thrive, classic facial gestalt and multisystem involvement including cardiomyopathy and intellectual disability. We present a 7 months old child with severe failure to thrive whose "subtle" facial dysmorphism at the time eluded clinical recognition of the syndrome. It was only with optimization of his nutritional status that dysmorphic features became more apparent, which affirmed the molecular diagnosis of Costello syndrome from exome sequencing...
October 2, 2016: European Journal of Medical Genetics
Mohsen Mazidi, Peymane Vadadian, Peyman Rezaie, Mahmoud Reza Azarpazhooh, Habib Esmaeili, Majid Ghayour-Mobarhan, Andre Pascal Kengne, Gordon A Ferns
AIM: We aimed to investigate the relationship between carotid Intima Media Thickness (CIMT) and physical activity levels (PAL), in subjects with and without metabolic syndrome (MetS) and in indidiviuals with and without carotid artery plaque (CAP) defined using high-resolution ultrasound. METHOD: A sample of 506 subjects [215 (42.5%) males], aged 35-64 years was recruited from an urban population in Mashhad, Iran, using a stratified-cluster method as part of the Mashhad Stroke Heart Atherosclerosis Disorder (MASHAD) study cohort...
August 23, 2016: Diabetes & Metabolic Syndrome
Alicia M Hughes, Rola Gordon, Trudie Chalder, Colette R Hirsch, Rona Moss-Morris
BACKGROUND: There is an abundance of research into cognitive processing biases in clinical psychology including the potential for applying cognitive bias modification techniques to assess the causal role of biases in maintaining anxiety and depression. Within the health psychology field, there is burgeoning interest in applying these experimental methods to assess potential cognitive biases in relation to physical health conditions and health-related behaviours. Experimental research in these areas could inform theoretical development by enabling measurement of implicit cognitive processes that may underlie unhelpful illness beliefs and help drive health-related behaviours...
November 2016: British Journal of Health Psychology
Phil Newman, Gordon Waddington, Roger Adams
OBJECTIVES: Up to 35% of runners develop medial tibial stress syndrome (MTSS) which often results in lengthy disruption to training and sometimes affects daily activities. There is currently no high quality evidence to support any particular intervention for MTSS. This study aims to investigate the effect of shockwave therapy for MTSS. DESIGN: A randomized, sham-controlled, pilot trial in a university-based health clinic including 28 active adults with MTSS. METHODS: Intervention included standard dose shockwave therapy for the experimental group versus sham dose for the control group, delivered during Week 1-3, 5 and 9...
August 5, 2016: Journal of Science and Medicine in Sport
Gordon Cook, Simona Iacobelli, Anja van Biezen, Dimitris Ziagkos, Veronique LeBlond, Julie Abraham, Grant McQuaker, Stefan Schoenland, Alessandro Rambaldi, Kazimierz Halaburda, Maria Rovira, Simona Sica, Jenny Byrne, Ramon Garcia Sanz, Arnon Nagler, Niels W C J van de Donk, Marjatta Sinisalo, Mark Cook, Nicolaus Kröger, Theo De Witte, Curly Morris, Laurent Garderet
POEMS syndrome is a rare para-neoplastic syndrome secondary to a plasma cell dyscrasia. Effective treatment can control the disease-related symptom complex. We describe the clinical outcome of autologous stem cell transplantation for patients with POEMS syndrome, determining the impact of patient and disease-specific factors on prognosis. 127 patients underwent an autologous stem cell transplantation between 1997-2010 with a median age of 50 years (range 26-69). The median time from diagnosis to ASCT was 7...
September 15, 2016: Haematologica
Rebecca J Gordon, Jennifer Bell, Wendy K Chung, Raphael David, Sharon E Oberfield, Sharon L Wardlaw
PURPOSE: Acromegaly in infancy is extremely rare. We describe a 32 year old woman who presented at 6 months of age with isolated macrocephaly, followed by accelerated linear growth. At 21 months of age, her head circumference was 55 cm (+5.5 SD), height was 97.6 cm (+4.4 SD) and weight was 20.6 kg (+6.2 SD). She had markedly elevated levels of growth hormone (GH) (135 ng/ml), IGF-1 (1540 ng/ml) and prolactin (370 ng/ml). A pituitary macroadenoma was surgically resected. Immunohistochemical staining was positive for GH...
September 8, 2016: Pituitary
Marie Toft-Petersen, Line Nederby, Eigil Kjeldsen, Gitte B Kerndrup, Gordon D Brown, Peter Hokland, Anne Stidsholt Roug
Evidence of distinct disease propagating stem cells in myelodysplastic syndrome (MDS) has emerged in recent years. However, immunophenotypic characterization of these cancer stem cells remains sparse. In acute myeloid leukaemia (AML), we have previously described aberrant expression of the C-type lectin domain family 12, member A (CLEC12A) as a stable and reliable marker of leukaemia blasts and as a tool for assessing minimal residual disease. Furthermore, CLEC12A has been proposed as a promising marker of leukaemic stem cells in AML...
September 9, 2016: British Journal of Haematology
Benjamin Kasenda, Willi Sauerbrei, Patrick Royston, Alain Mercat, Arthur S Slutsky, Deborah Cook, Gordon H Guyatt, Laurent Brochard, Jean-Christophe M Richard, Thomas E Stewart, Maureen Meade, Matthias Briel
OBJECTIVES: A recent individual patient data (IPD) meta-analysis suggested that patients with moderate or severe acute respiratory distress syndrome (ARDS) benefit from higher positive end-expiratory pressure (PEEP) ventilation strategies. However, thresholds for continuous variables (eg, hypoxaemia) are often arbitrary and linearity assumptions in regression approaches may not hold; the multivariable fractional polynomial interaction (MFPI) approach can address both problems. The objective of this study was to apply the MFPI approach to investigate interactions between four continuous patient baseline variables and higher versus lower PEEP on clinical outcomes...
September 8, 2016: BMJ Open
Jing J Wang, Mahmood A Al Kindi, Alex D Colella, Lukah Dykes, Michael W Jackson, Tim K Chataway, Joanne H Reed, Tom P Gordon
We have used high-resolution mass spectrometry to sequence precipitating anti-Ro60 proteomes from sera of patients with primary Sjögren's syndrome and compare immunoglobulin variable-region (IgV) peptide signatures in Ro/La autoantibody subsets. Anti-Ro60 were purified by elution from native Ro60-coated ELISA plates and subjected to combined de novo amino acid sequencing and database matching. Monospecific anti-Ro60 Igs comprised dominant public and minor private sets of IgG1 kappa and lambda restricted heavy and light chains...
September 5, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
Brandon W Godfrey, Ashley Martin, Paul J Chestovich, Gordon H Lee, Nichole K Ingalls, Vilas Saldanha
INTRODUCTION: Improvised Explosive Devices (IED) are the primary wounding mechanism for casualties in Operation Enduring Freedom. Patients can sustain devastating traumatic amputations, which are unlike injuries seen in the civilian trauma sector. This is a database analysis of the largest patient registry of multiple traumatic amputations. METHODS: The Joint Theater Trauma Registry was queried for patients with a traumatic amputation from 2009 to 2012. Data obtained included the Injury Severity Score (ISS), Glasgow Coma Score (GCS), blood products, transfer from theatre, and complications including DVT, PE, infection (Acinetobacter and fungal), acute renal failure, and rhabdomyolysis...
August 17, 2016: Injury
Robert K Naviaux, Jane C Naviaux, Kefeng Li, A Taylor Bright, William A Alaynick, Lin Wang, Asha Baxter, Neil Nathan, Wayne Anderson, Eric Gordon
More than 2 million people in the United States have myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). We performed targeted, broad-spectrum metabolomics to gain insights into the biology of CFS. We studied a total of 84 subjects using these methods. Forty-five subjects (n = 22 men and 23 women) met diagnostic criteria for ME/CFS by Institute of Medicine, Canadian, and Fukuda criteria. Thirty-nine subjects (n = 18 men and 21 women) were age- and sex-matched normal controls. Males with CFS were 53 (±2...
September 13, 2016: Proceedings of the National Academy of Sciences of the United States of America
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