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Gordon syndrome

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https://www.readbyqxmd.com/read/28089635/venetoclax-plus-rituximab-in-relapsed-or-refractory-chronic-lymphocytic-leukaemia-a-phase-1b-study
#1
John F Seymour, Shuo Ma, Danielle M Brander, Michael Y Choi, Jacqueline Barrientos, Matthew S Davids, Mary Ann Anderson, Anne W Beaven, Steven T Rosen, Constantine S Tam, Betty Prine, Suresh K Agarwal, Wijith Munasinghe, Ming Zhu, L Leanne Lash, Monali Desai, Elisa Cerri, Maria Verdugo, Su Young Kim, Rod A Humerickhouse, Gary B Gordon, Thomas J Kipps, Andrew W Roberts
BACKGROUND: Selective BCL2 inhibition with venetoclax has substantial activity in patients with relapsed or refractory chronic lymphocytic leukaemia. Combination therapy with rituximab enhanced activity in preclinical models. The aim of this study was to assess the safety, pharmacokinetics, and activity of venetoclax in combination with rituximab. METHODS: Adult patients with relapsed or refractory chronic lymphocytic leukaemia (according to the 2008 Modified International Workshop on CLL guidelines) or small lymphocytic lymphoma were eligible for this phase 1b, dose-escalation trial...
January 12, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28067911/de-novo-mutations-in-smchd1-cause-bosma-arhinia-microphthalmia-syndrome-and-abrogate-nasal-development
#2
Christopher T Gordon, Shifeng Xue, Gökhan Yigit, Hicham Filali, Kelan Chen, Nadine Rosin, Koh-Ichiro Yoshiura, Myriam Oufadem, Tamara J Beck, Ruth McGowan, Alex C Magee, Janine Altmüller, Camille Dion, Holger Thiele, Alexandra D Gurzau, Peter Nürnberg, Dieter Meschede, Wolfgang Mühlbauer, Nobuhiko Okamoto, Vinod Varghese, Rachel Irving, Sabine Sigaudy, Denise Williams, S Faisal Ahmed, Carine Bonnard, Mung Kei Kong, Ilham Ratbi, Nawfal Fejjal, Meriem Fikri, Siham Chafai Elalaoui, Hallvard Reigstad, Christine Bole-Feysot, Patrick Nitschké, Nicola Ragge, Nicolas Lévy, Gökhan Tunçbilek, Audrey S M Teo, Michael L Cunningham, Abdelaziz Sefiani, Hülya Kayserili, James M Murphy, Chalermpong Chatdokmaiprai, Axel M Hillmer, Duangrurdee Wattanasirichaigoon, Stanislas Lyonnet, Frédérique Magdinier, Asif Javed, Marnie E Blewitt, Jeanne Amiel, Bernd Wollnik, Bruno Reversade
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles...
January 9, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28049632/paleogenetic-study-of-ancient-dna-suggestive-of-x-linked-acrogigantism
#3
Albert Beckers, Daniel Fernandes, Frederic Fina, Mario Novak, Angelo Abati, Liliya Rostomyan, Albert Thiry, L'Houcine Ouafik, Bertrand Pasture, Ron Pinhasi, Adrian F Daly
Extract: Dear Editor, Pituitary gigantism is caused by chronic growth hormone (GH) hypersecretion by a pituitary lesion before epiphyseal fusion. Genetic causes have been identified in nearly 50% of patients with pituitary gigantism, with germline mutations in the AIP gene being the most frequent cause (Rostomyan et al. 2015). Recently, a new form of pituitary gigantism, X-linked acrogigantism (X-LAG), was described (Trivellin et al. 2014). X-LAG is due to chromosome Xq26.3 duplication and GPR101 is the disease-associated gene (Trivellin et al...
January 3, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28034591/women-with-polycystic-ovary-syndrome-have-comparable-hip-bone-geometry-to-age-matched-control-women
#4
Laura E McBreairty, Gordon A Zello, Julianne J Gordon, Shani B Serrao, Roger A Pierson, Donna R Chizen, Philip D Chilibeck
Polycystic ovary syndrome (PCOS) is an endocrine disorder affecting women of reproductive age manifesting with polycystic ovaries, menstrual irregularities, hyperandrogenism, hirsutism, and insulin resistance. The oligomenorrhea and amenorrhea characteristic to PCOS are associated with low bone mineral density (BMD); conversely, the hyperandrogenism and hyperinsulinemia may elicit a protective effect on BMD. As bone geometric properties provide additional information about bone strength, the objective of this study was to compare measures of hip geometry in women with PCOS to a healthy female population...
December 26, 2016: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28013106/cpx-351-exhibits-potent-and-direct-ex-vivo-cytotoxicity-against-aml-blasts-with-enhanced-efficacy-for-cells-harboring-the-flt3-itd-mutation
#5
Max J Gordon, Paul Tardi, Marc M Loriaux, Stephen E Spurgeon, Elie Traer, Tibor Kovacsovics, Lawrence D Mayer, Jeffrey W Tyner
PURPOSE: Identify AML patients most likely to respond to CPX-351, a nano-scale liposome formulation containing cytarabine and daunorubicin co-encapsulated at a 5:1 molar ratio. METHODS: We examined the ex vivo cytotoxic activity of CPX-351 against leukemic cells isolated from 53 AML patients and an additional 127 samples including acute lymphoblastic leukemia, myelodysplastic syndrome/myeloproliferative neoplasms, or chronic lymphocytic leukemia/lymphoma. We assessed activity with respect to common molecular lesions and used flow cytometry to assess CPX-351 cellular uptake...
December 12, 2016: Leukemia Research
https://www.readbyqxmd.com/read/28004129/statin-therapy-for-acute-respiratory-distress-syndrome-an-individual-patient-data-meta-analysis-of-randomised-clinical-trials
#6
REVIEW
Myura Nagendran, Daniel F McAuley, Peter S Kruger, Laurent Papazian, Jonathon D Truwit, John G Laffey, B Taylor Thompson, Mike Clarke, Anthony C Gordon
PURPOSE: We performed an individual patient data meta-analysis to assess the possible benefits and harms of statin therapy in adults with acute respiratory distress syndrome (ARDS) and to investigate effects in specific ARDS subgroups. METHODS: We identified randomised clinical trials up to 31 October 2016 that had investigated statin therapy versus placebo in patients with ARDS. Individual patient data from each trial were compiled. Conventional two-stage meta-analyses were performed for primary and secondary outcomes, and one-stage regression models with single treatment-covariate interactions for subgroup analyses...
December 21, 2016: Intensive Care Medicine
https://www.readbyqxmd.com/read/27997683/lambert-eaton-myasthenic-syndrome-lems-epidemiology-and-therapeutic-response-in-the-national-veterans-affairs-va-population
#7
Daniel C Abenroth, A Gordon Smith, John E Greenlee, Sharon D Austin, Stacey L Clardy
INTRODUCTION: One nation-wide study (Netherlands) of LEMS has been published. We report LEMS epidemiology and therapeutic response in the United States Veterans Affairs (VA) population. METHODS: Medical records for all active patients (12.5 million) in the VA health system were queried for relevant ICD-9 codes for 10/1/1999 - 9/30/2013. Clinical, electrophysiologic, and serologic features were evaluated to confirm diagnosis; epidemiologic and treatment data were collected...
December 20, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27995769/triad3-rnf216-mutations-associated-with-gordon-holmes-syndrome-lead-to-synaptic-and-cognitive-impairments-via-arc-misregulation
#8
Nilofer Husain, Qiang Yuan, Yi-Chun Yen, Olga Pletnikova, Dong Qianying Sally, Paul Worley, Zoë Bichler, H Shawn Je
Multiple loss-of-function mutations in TRIAD3 (a.k.a. RNF216) have recently been identified in patients suffering from Gordon Holmes syndrome (GHS), characterized by cognitive decline, dementia, and movement disorders. TRIAD3A is an E3 ubiquitin ligase that recognizes and facilitates the ubiquitination of its target for degradation by the ubiquitin-proteasome system (UPS). Here, we demonstrate that two of these missense substitutions in TRIAD3 (R660C and R694C) could not regulate the degradation of their neuronal target, activity-regulated cytoskeletal-associated protein (Arc/Arg 3...
December 20, 2016: Aging Cell
https://www.readbyqxmd.com/read/27984191/association-of-a-vascular-endothelial-growth-factor-genetic-variant-with-vegf-serum-level-in-subjects-with-metabolic-syndrome
#9
Hamideh Ghazizadeh, Mohammad Fazilati, Alireza Pasdar, Amir Avan, Maryam Tayefi, Faeze Ghasemi, Mehraneh Mehramiz, Seyed Reza Mirhafez, Gordon A Ferns, Mohsen Azimi-Nezhad, Majid Ghayour-Mobarhan
BACKGROUND: The metabolic syndrome (Mets) as a combination of metabolic disorders, is associated with the increased risk of developing cardiovascular-disease, diabetes, and related diseases. Against this background, Vascular Endothelial Growth Factor (VEGF) plays an essential role in angiogenesis, vascular permeability, and hematopoiesis and its increased level is reported to be associated with increasing the risk of developing cardiovascular-disease, stroke and diabetes. Therefore the aim of present study was to explore the association of serum VEGF level and its associated genetic-polymorphism, rs10738760 (A>G) at 9p24...
October 27, 2016: Gene
https://www.readbyqxmd.com/read/27971657/patient-characteristics-and-health-outcomes-in-adults-diagnosed-with-marfan-syndrome-in-the-united-states
#10
J M Noone, B D Gordon, E Zacherle, S Whitmire, R Howden, C M Blanchette, L A Clark
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27930746/perinatal-natural-history-of-the-ts1cje-mouse-model-of-down-syndrome-growth-restriction-early-mortality-heart-defects-and-delayed-development
#11
Millie A Ferrés, Diana W Bianchi, Ashley E Siegel, Roderick T Bronson, Gordon S Huggins, Faycal Guedj
BACKGROUND: The Ts1Cje model of Down syndrome is of particular interest for perinatal studies because affected males are fertile. This permits affected pups to be carried in wild-type females, which is similar to human pregnancies. Here we describe the early natural history and growth profiles of Ts1Cje embryos and neonates and determine if heart defects are present in this strain. METHODS: Pups were studied either on embryonic (E) day 15.5, or from postnatal (P) day 3 through weaning on P21...
2016: PloS One
https://www.readbyqxmd.com/read/27928421/asymmetrical-intraocular-pressures-and-asymmetrical-papilloedema-in-pseudotumor-cerebri-syndrome
#12
Mitchell Lawlor, Michael G Zhang, Jonathan Virgo, Gordon T Plant
This report is of two cases of asymmetrical papilloedema in patients with asymmetrical intraocular pressures (IOPs). The first patient presented with headaches, transient visual obscurations (TVOs), and elevated IOPs, and was found to have increased intracranial pressure caused by a torcula meningioma. He developed papilloedema after his IOPs were pharmacologically lowered; the papilloedema resolved after the IOP became elevated again after stopping his glaucoma drops, and then again returned as the IOP reduced when the drops were restarted...
December 2016: Neuro-ophthalmology
https://www.readbyqxmd.com/read/27927777/internuclear-ophthalmoplegia
#13
Jonathan D Virgo, Gordon T Plant
A brainstem lesion of any type that involves the medial longitudinal fasciculus (MLF) can cause internuclear ophthalmoplegia (INO). This primarily affects conjugate horizontal gaze and classically manifests as impaired adduction ipsilateral to the lesion and abduction nystagmus contralateral to the lesion. Here, we describe the anatomy of the MLF and review the clinical features of INO. We also describe conjugate horizontal gaze palsy and some of the 'INO-plus' syndromes.
December 7, 2016: Practical Neurology
https://www.readbyqxmd.com/read/27920058/a-novel-somatic-mutation-achieves-partial-rescue-in-a-child-with-hutchinson-gilford-progeria-syndrome
#14
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS...
December 5, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27895948/pediatric-balint-s-syndrome-variant-a-possible-diagnosis-in-children
#15
Swetha Sara Philip, Sunithi Elizabeth Mani, Gordon N Dutton
Balint's syndrome is well described in adults, but not in children. It is caused by bilateral posterior parietal lobe damage and comprises a triad of simultanagnosia (inability to simultaneously see more than a small number of items), optic ataxia (impaired visual guidance of movement of the limbs and body), and apraxia of gaze (inability to volitionally direct gaze despite the requisite motor substrate) often associated with homonymous lower visual field loss. We, here, describe five children (four males, one female; mean age 7...
2016: Case Reports in Ophthalmological Medicine
https://www.readbyqxmd.com/read/27885763/meditation-awareness-training-for-the-treatment-of-fibromyalgia-syndrome-a-randomized-controlled-trial
#16
William Van Gordon, Edo Shonin, Thomas J Dunn, Javier Garcia-Campayo, Mark D Griffiths
OBJECTIVES: The purpose of this study was to conduct the first randomized controlled trial (RCT) to evaluate the effectiveness of a second-generation mindfulness-based intervention (SG-MBI) for treating fibromyalgia syndrome (FMS). Compared to first-generation mindfulness-based interventions, SG-MBIs are more acknowledging of the spiritual aspect of mindfulness. DESIGN: A RCT employing intent-to-treat analysis. METHODS: Adults with FMS received an 8-week SG-MBI known as meditation awareness training (MAT; n = 74) or an active control intervention known as cognitive behaviour theory for groups (n = 74)...
February 2017: British Journal of Health Psychology
https://www.readbyqxmd.com/read/27861258/septic-participation-in-cardiogenic-shock-exposure-to-bacterial-endotoxin
#17
Paula Ramirez, Esther Villarreal, Monica Gordon, María Dolores Gómez, Luis de Hevia, Karla Vacacela, Teresa Gisbert, Adrian Quinzá, Jesús Ruiz, Ricardo Alonso, Juan Bonastre, Jordi Vila
OBJECTIVE: In cardiogenic shock (CS), presence of fever, leukocytosis, relatively low systemic vascular resistances and high serum procalcitonin levels are quite frequent and recurrently involve the search for an infectious complication. We hypothesized that endotoxin exposure in CS could explain this sepsis-like syndrome. DESIGN AND SETTING: Prospective observational study of consecutive CS patients admitted to our intensive care unit (ICU). Patients were followed during the first three days after SC onset...
November 15, 2016: Shock
https://www.readbyqxmd.com/read/27853509/visit-ts-a-multimedia-tool-for-population-studies-on-tic-disorders
#18
M Jonathan Vachon, Catherine W Striley, Mollie R Gordon, Miriam L Schroeder, Emily C Bihun, Jonathan M Koller, Kevin J Black
Population-based assessment of Tourette syndrome (TS) and other tic disorders produces a paradox. On one hand, ideally diagnosis of tic disorders requires expert observation. In fact, diagnostic criteria for TS explicitly require expert assessment of tics for a definite diagnosis. On the other hand, large-scale population surveys with expert assessment of every subject are impracticable. True, several published studies have successfully used expert assessment to find tic prevalence in a representative population (e...
2016: F1000Research
https://www.readbyqxmd.com/read/27851647/2013-subtotal-bowel-infarction-associated-with-antiphospholipid-syndrome
#19
Jose Sala, Robert Ochoa, Eric Peden, Sherilyn Gordon Burroughs
No abstract text is available yet for this article.
December 2016: Critical Care Medicine
https://www.readbyqxmd.com/read/27821275/biaxial-quantification-of-deep-layer-transverse-carpal-ligament-elastic-properties-by-sex-and-region
#20
Bryan Mathers, Anne Agur, Michele Oliver, Karen Gordon
BACKGROUND: The transverse carpal ligament is a major component of the carpal tunnel and is an important structure in the etiology of carpal tunnel syndrome. The current study aimed to quantify biaxial elastic moduli of the transverse carpal ligament and compare differences between sex and region (Radial and Ulnar). METHODS: Biaxial testing of radial and ulnar samples from twenty-two (thirteen male, nine female) human fresh frozen cadaveric transverse carpal ligaments was performed...
October 27, 2016: Clinical Biomechanics
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