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Gordon syndrome

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https://www.readbyqxmd.com/read/29332766/cognitive-function-in-rett-syndrome-profoundly-impaired-or-near-normal
#1
EDITORIAL
Gunter Loffler, Gael E Gordon
No abstract text is available yet for this article.
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29330547/recessive-loss-of-function-pign-alleles-including-an-intragenic-deletion-with-founder-effect-in-la-r%C3%A3-union-island-in-patients-with-fryns-syndrome
#2
Jean-Luc Alessandri, Christopher T Gordon, Marie-Line Jacquemont, Nicolas Gruchy, Norbert F Ajeawung, Guillaume Benoist, Myriam Oufadem, Asma Chebil, Yannis Duffourd, Coralie Dumont, Marion Gérard, Paul Kuentz, Thibaud Jouan, Francesca Filippini, Thi Tuyet Mai Nguyen, Olivier Alibeu, Christine Bole-Feysot, Patrick Nitschké, Asma Omarjee, Duksha Ramful, Hanitra Randrianaivo, Bérénice Doray, Laurence Faivre, Jeanne Amiel, Philippe M Campeau, Julien Thevenon
Fryns syndrome (FS) is a multiple malformations syndrome with major features of congenital diaphragmatic hernia, pulmonary hypoplasia, craniofacial dysmorphic features, distal digit hypoplasia, and a range of other lower frequency malformations. FS is typically lethal in the fetal or neonatal period. Inheritance is presumed autosomal recessive. Although no major genetic cause has been identified for FS, biallelic truncating variants in PIGN, encoding a component of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, have been identified in a limited number of cases with a phenotype compatible with FS...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29277506/high-output-cardiac-failure-and-coronary-steal-with-an-arteriovenous-fistula
#3
Amtul Aala, Sairah Sharif, Leslie Parikh, Paul C Gordon, Susie L Hu
Creation of an arteriovenous access for hemodialysis can provoke a sequence of events that significantly affects cardiovascular hemodynamics. We present a 78-year-old man with end-stage renal disease and concomitant coronary artery disease previously requiring coronary artery bypass grafting including a left internal mammary graft to the left anterior descending artery, ischemic cardiomyopathy with left ventricular systolic dysfunction, and severe aortic stenosis who developed hypotension unresponsive to medical therapy after recent angioplasty of his ipsilateral arteriovenous fistula for high-grade outflow stenosis...
December 22, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29275822/screening-for-fetal-growth-restriction-using-fetal-biometry-combined-with-maternal-biomarkers
#4
REVIEW
Francesca Gaccioli, Irving L M H Aye, Ulla Sovio, D Stephen Charnock-Jones, Gordon C S Smith
Fetal growth restriction is a major determinant of perinatal morbidity and mortality. Screening for fetal growth restriction is a key element of prenatal care but it is recognized to be problematic. Screening using clinical risk assessment and targeting ultrasound to high-risk women is the standard of care in the United States and United Kingdom, but the approach is known to have low sensitivity. Systematic reviews of randomized controlled trials do not demonstrate any benefit from universal ultrasound screening for fetal growth restriction in the third trimester, but the evidence base is not strong...
December 22, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29258604/water-t2-as-an-early-global-and-practical-biomarker-for-metabolic-syndrome-an-observational-cross-sectional-study
#5
Michelle D Robinson, Ina Mishra, Sneha Deodhar, Vipulkumar Patel, Katrina V Gordon, Raul Vintimilla, Kim Brown, Leigh Johnson, Sid O'Bryant, David P Cistola
BACKGROUND: Metabolic syndrome (MetS) is a highly prevalent condition that identifies individuals at risk for type 2 diabetes mellitus and atherosclerotic cardiovascular disease. Prevention of these diseases relies on early detection and intervention in order to preserve pancreatic β-cells and arterial wall integrity. Yet, the clinical criteria for MetS are insensitive to the early-stage insulin resistance, inflammation, cholesterol and clotting factor abnormalities that characterize the progression toward type 2 diabetes and atherosclerosis...
December 19, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29248984/different-cerebellar-ataxia-phenotypes-associated-with-mutations-of-the-pnpla6-gene-in-brazilian-patients-with-recessive-ataxias
#6
Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz
Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations...
December 16, 2017: Cerebellum
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#7
Veda N Giri, Karen E Knudsen, William K Kelly, Wassim Abida, Gerald L Andriole, Chris H Bangma, Justin E Bekelman, Mitchell C Benson, Amie Blanco, Arthur Burnett, William J Catalona, Kathleen A Cooney, Matthew Cooperberg, David E Crawford, Robert B Den, Adam P Dicker, Scott Eggener, Neil Fleshner, Matthew L Freedman, Freddie C Hamdy, Jean Hoffman-Censits, Mark D Hurwitz, Colette Hyatt, William B Isaacs, Christopher J Kane, Philip Kantoff, R Jeffrey Karnes, Lawrence I Karsh, Eric A Klein, Daniel W Lin, Kevin R Loughlin, Grace Lu-Yao, S Bruce Malkowicz, Mark J Mann, James R Mark, Peter A McCue, Martin M Miner, Todd Morgan, Judd W Moul, Ronald E Myers, Sarah M Nielsen, Elias Obeid, Christian P Pavlovich, Stephen C Peiper, David F Penson, Daniel Petrylak, Curtis A Pettaway, Robert Pilarski, Peter A Pinto, Wendy Poage, Ganesh V Raj, Timothy R Rebbeck, Mark E Robson, Matt T Rosenberg, Howard Sandler, Oliver Sartor, Edward Schaeffer, Gordon F Schwartz, Mark S Shahin, Neal D Shore, Brian Shuch, Howard R Soule, Scott A Tomlins, Edouard J Trabulsi, Robert Uzzo, Donald J Vander Griend, Patrick C Walsh, Carol J Weil, Richard Wender, Leonard G Gomella
Purpose Guidelines are limited for genetic testing for prostate cancer (PCA). The goal of this conference was to develop an expert consensus-driven working framework for comprehensive genetic evaluation of inherited PCA in the multigene testing era addressing genetic counseling, testing, and genetically informed management. Methods An expert consensus conference was convened including key stakeholders to address genetic counseling and testing, PCA screening, and management informed by evidence review. Results Consensus was strong that patients should engage in shared decision making for genetic testing...
December 13, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29218312/potassium-homeostasis-oxidative-stress-and-human-disease
#8
Udensi K Udensi, Paul B Tchounwou
Potassium is the most abundant cation in the intracellular fluid and it plays a vital role in the maintenance of normal cell functions. Thus, potassium homeostasis across the cell membrane, is very critical because a tilt in this balance can result in different diseases that could be life threatening. Both Oxidative stress (OS) and potassium imbalance can cause life threatening health conditions. OS and abnormalities in potassium channel have been reported in neurodegenerative diseases. This review highlights the major factors involved in potassium homeostasis (dietary, hormonal, genetic, and physiologic influences), and discusses the major diseases and abnormalities associated with potassium imbalance including hypokalemia, hyperkalemia, hypertension, chronic kidney disease, and Gordon's syndrome, Bartter syndrome, and Gitelman syndrome...
2017: International Journal of Clinical and Experimental Physiology
https://www.readbyqxmd.com/read/29215707/the-diagnostic-and-prognostic-value-of-circulating-micrornas-in-coronary-artery-disease-a-novel-approach-to-disease-diagnosis-of-stable-cad-and-acute-coronary-syndrome
#9
REVIEW
Seyed Mostafa Parizadeh, Gordon A Ferns, Maryam Ghandehari, Seyed Mahdi Hasanian, Majid Ghayour-Mobarhan, Seyed Mohammad Reza Parizadeh, Amir Avan
Coronary artery disease (CAD) is the most common manifestation of CVD and the acute coronary syndrome (ACS) is associated with a substantial morbidity and mortality in most populations globally. There are several biomarkers for diagnosis of MI. Troponin is routinely used as a biomarker in patients with chest pain, but it lacks sensitivity in the first hours of onset of symptoms, and so there is still a clinical need for new biomarkers for the diagnosis of CAD events. Recent studies have shown that miRNAs are involved in atherosclerotic plaque formation and their expression is altered during CAD events...
December 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29207382/incidental-septostomy-after-laser-surgery-for-twin-twin-transfusion-syndrome-perinatal-outcomes-and-antenatal-management
#10
Brian J Gordon, Andrew H Chon, Lisa M Korst, Arlyn Llanes, David A Miller, Ramen H Chmait
INTRODUCTION: Incidental septostomy, or inadvertent perforation of the twins' dividing membranes, can create a functional monoamniotic twin pregnancy. Our aim was to describe the perinatal outcomes and antenatal management of patients with incidental septostomy after laser surgery for twin-twin transfusion syndrome (TTTS). MATERIALS AND METHODS: Monochorionic diamniotic multiple gestations with a gestational age (GA) between 16 and 26 weeks that underwent laser surgery from March 2006 to December 2015 were studied retrospectively...
December 5, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/29198722/a-recurrent-de-novo-nonsense-variant-in-zswim6-results-in-severe-intellectual-disability-without-frontonasal-or-limb-malformations
#11
Elizabeth E Palmer, Raman Kumar, Christopher T Gordon, Marie Shaw, Laurence Hubert, Renee Carroll, Marlène Rio, Lucinda Murray, Melanie Leffler, Tracy Dudding-Byth, Myriam Oufadem, Seema R Lalani, Andrea M Lewis, Fan Xia, Allison Tam, Richard Webster, Susan Brammah, Francesca Filippini, John Pollard, Judy Spies, Andre E Minoche, Mark J Cowley, Sarah Risen, Nina N Powell-Hamilton, Jessica E Tusi, LaDonna Immken, Honey Nagakura, Christine Bole-Feysot, Patrick Nitschké, Alexandrine Garrigue, Geneviève de Saint Basile, Emma Kivuva, Richard H Scott, Augusto Rendon, Arnold Munnich, William Newman, Bronwyn Kerr, Claude Besmond, Jill A Rosenfeld, Jeanne Amiel, Michael Field, Jozef Gecz
A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.Arg913Ter]) in the penultimate exon of ZSWIM6 who have severe-profound intellectual disability and additional central and peripheral nervous system symptoms but an absence of frontonasal or limb malformations...
November 23, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29194291/the-great-mimicker-pseudo-meig-syndrome-in-a-pregnant-patient-a-review
#12
Thelina Amaratunga, Noam Millo, Vallerie Gordon, Cyrille Blcamumpaka, Yi Yan, Stephanie Sparkes, Ashraf Goubran
Meig syndrome is the triad of benign ovarian tumor, ascites, and pleural effusion. Pseudo-Meig syndrome mimics the Meig syndrome triad; however, in pseudo-Meig syndrome, the ovarian tumor usually represents a primary malignancy or metastases. Differentiating Meig from pseudo-Meig syndrome is challenging both clinically and with diagnostic imaging but is important because prognoses for these distinct entities are drastically different. Evidence-based sonographic prediction models are valuable because they can aid in this distinction...
November 29, 2017: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29159987/med13l-loss-of-function-variants-in-two-patients-with-syndromic-pierre-robin-sequence
#13
Christopher T Gordon, Maya Chopra, Myriam Oufadem, Olivier Alibeu, Marc Bras, Nathalie Boddaert, Christine Bole-Feysot, Patrick Nitschké, Véronique Abadie, Stanislas Lyonnet, Jeanne Amiel
We report two unrelated patients with Pierre Robin sequence (PRS) and a strikingly similar combination of associated features. Whole exome sequencing was performed for both patients. No single gene containing likely pathogenic point mutations in both patients could be identified, but the finding of an essential splice site mutation in mediator complex subunit 13 like (MED13L) in one patient prompted the investigation of copy number variants in MED13L in the other, leading to the identification of an intragenic deletion...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29146906/qtl-mapping-and-molecular-characterization-of-the-classical-d-locus-controlling-seed-and-flower-color-in-linum-usitatissimum-flax
#14
Gurudatt Pavagada Sudarshan, Manoj Kulkarni, Leonid Akhov, Paula Ashe, Hamid Shaterian, Sylvie Cloutier, Gordon Rowland, Yangdou Wei, Gopalan Selvaraj
The flowers of flax (linseed) are blue-hued, ephemeral and self-pollinating, and the seeds are typically brown. A century-old interest in natural yellow seed variants and a historical model point to recessive alleles in B1, D and G loci being responsible, but the functional aspects had remained unknown. Here, we characterized the "D" locus by quantitative trait loci (QTL) mapping and identified a FLAVONOID 3'5' HYDROXYLASE (F3'5'H) gene therein. It does not belong to the F3'5'H clade, but resembles biochemically characterized F3'Hs (flavonoid 3' hydroxylase) but without F3'H activity...
November 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29138899/correction-to-potentially-modifiable-factors-contributing-to-outcome-from-acute-respiratory-distress-syndrome-the-lung-safe-study
#15
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
Correction to: Intensive Care Med (2016) 42:1865-1876 DOI 10.1007/s00134-016-4571-5.
November 14, 2017: Intensive Care Medicine
https://www.readbyqxmd.com/read/29136622/serum-transaminase-concentrations-and-the-presence-of-irritable-bowel-syndrome-are-associated-with-serum-25-hydroxy-vitamin-d-concentrations-in-adolescent-girls-who-are-overweight-and-obese
#16
Sayyed Saeid Khayyatzadeh, Hassanali Vatanparast, Amir Avan, Mohammad Bagherniya, Afsane Bahrami, Mohammad Ali Kiani, Hamidreza Bahrami-Taghanaki, Gordon A Ferns, Majid Ghayour-Mobarhan
BACKGROUND/AIMS: Vitamin D deficiency has become endemic globally and its etiology is complex. Few studies have investigated the determinants of serum 25-hydroxy vitamin D (25-OH D). The aim of this study was to investigate the association between lifestyle patterns, liver functional tests (LFTs), and the presence of irritable bowel syndrome (IBS) with serum 25-OH D in apparently healthy girls. METHODS: This cross-sectional study was undertaken in 965 adolescent girls aged 12-18 years...
November 14, 2017: Annals of Nutrition & Metabolism
https://www.readbyqxmd.com/read/29136007/perinatal-mortality-associated-with-induction-of-labour-versus-expectant-management-in-nulliparous-women-aged-35-years-or-over-an-english-national-cohort-study
#17
Hannah E Knight, David A Cromwell, Ipek Gurol-Urganci, Katie Harron, Jan H van der Meulen, Gordon C S Smith
BACKGROUND: A recent randomised controlled trial (RCT) demonstrated that induction of labour at 39 weeks of gestational age has no short-term adverse effect on the mother or infant among nulliparous women aged ≥35 years. However, the trial was underpowered to address the effect of routine induction of labour on the risk of perinatal death. We aimed to determine the association between induction of labour at ≥39 weeks and the risk of perinatal mortality among nulliparous women aged ≥35 years...
November 2017: PLoS Medicine
https://www.readbyqxmd.com/read/29131833/mek-inhibitors-enhance-therapeutic-response-towards-atra-in-nf1-associated-malignant-peripheral-nerve-sheath-tumors-mpnst-in-vitro
#18
Susan Fischer-Huchzermeyer, Anna Dombrowski, Gordon Wilke, Verena Stahn, Anna Streubel, Victor Felix Mautner, Anja Harder
OBJECTIVE: Neurofibromatosis type 1 (NF1) is a hereditary tumor syndrome characterized by an increased risk of malignant peripheral nerve sheath tumors (MPNST). Chemotherapy of MPNST is still insufficient. In this study, we investigated whether human tumor Schwann cells derived from NF1 associated MPNST respond to all-trans retinoic acid (ATRA). We analyzed effects of ATRA and MEK inhibitor (MEKi) combination therapy. METHODS: MPNST cell lines S462, T265, NSF1 were treated with ATRA and MEKi U0126 and PD0325901...
2017: PloS One
https://www.readbyqxmd.com/read/29116546/sir-gordon-morgan-holmes-1876-1965-one-of-the-founders-of-modern-neurology
#19
Jarosław Jerzy Sak, Andrzej Grzybowski, Jacek Baj
Sir Gordon Morgan Holmes (1876-1965) was one of the most important founders of modern neurology and a great teacher and scientist. He was the first scientist to challenge the theory of the unitary function of the cerebellum and described cerebellar disorders. Holmes together with Thomas Grainger Stewart (1877-1957) described 40 cases of the rebound phenomenon in cerebellar disease (Stewart-Holmes maneuver or Stewart-Holmes test). He also described the symptoms of inherited neurodegenerative spinocerebellar ataxia involving the olivary nucleus (Gordon-Holmes syndrome)...
November 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/29111106/2017-comprehensive-update-of-the-canadian-cardiovascular-society-guidelines-for-the-management-of-heart-failure
#20
Justin A Ezekowitz, Eileen O'Meara, Michael A McDonald, Howard Abrams, Michael Chan, Anique Ducharme, Nadia Giannetti, Adam Grzeslo, Peter G Hamilton, George A Heckman, Jonathan G Howlett, Sheri L Koshman, Serge Lepage, Robert S McKelvie, Gordon W Moe, Miroslaw Rajda, Elizabeth Swiggum, Sean A Virani, Shelley Zieroth, Abdul Al-Hesayen, Alain Cohen-Solal, Michel D'Astous, Sabe De, Estrellita Estrella-Holder, Stephen Fremes, Lee Green, Haissam Haddad, Karen Harkness, Adrian F Hernandez, Simon Kouz, Marie-Hélène LeBlanc, Frederick A Masoudi, Heather J Ross, Andre Roussin, Bruce Sussex
Since the inception of the Canadian Cardiovascular Society heart failure (HF) guidelines in 2006, much has changed in the care for patients with HF. Over the past decade, the HF Guidelines Committee has published regular updates. However, because of the major changes that have occurred, the Guidelines Committee believes that a comprehensive reassessment of the HF management recommendations is presently needed, with a view to producing a full and complete set of updated guidelines. The primary and secondary Canadian Cardiovascular Society HF panel members as well as external experts have reviewed clinically relevant literature to provide guidance for the practicing clinician...
November 2017: Canadian Journal of Cardiology
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