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Williams syndrome

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https://www.readbyqxmd.com/read/29352336/who-was-dr-william-c-baum
#1
REVIEW
Mitchell R Ladd, Martha A Zeiger
The first discovery of primary hyperaldosteronism secondary to an aldosterone-secreting adrenal adenoma has been credited solely to Dr. Jerome Conn, an endocrinologist at the University of Michigan and for whom, Conn syndrome was named. Dr. William Baum, a urologist at the University of Michigan, however, was instrumental in the appropriate operation and historical aldosteronoma resection. Despite Dr. Baum's important role in this discovery, he was never included as an author in any of the subsequent papers describing Conn syndrome and, few today would recognize his name...
January 19, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29351278/analysis-of-the-tonsillar-microbiome-in-young-adults-with-sore-throat-reveals-a-high-relative-abundance-of-fusobacterium-necrophorum-with-low-diversity
#2
T Prescott Atkinson, Robert M Centor, Li Xiao, Fuchenchu Wang, Xiangqin Cui, William Van Der Pol, Casey D Morrow, Amy E Ratliff, Donna M Crabb, Arthur H Totten, Carlos A Estrada, Michael B Faircloth, Ken B Waites
Fusobacterium necrophorum (Fn), a gram-negative anaerobe, is increasingly implicated as an etiologic agent in older adolescents and young adults with sore throat. Inadequately treated Fn pharyngitis may result in suppurative complications such as peritonsillar abscess and Lemierre's syndrome. Data from the literature suggest that the incidence of life-threating complications in these age groups from Fn pharyngitis (Lemierre's syndrome) in the United States exceeds those associated with group A beta-hemolytic streptococcal (GAS) pharyngitis (acute rheumatic fever)...
2018: PloS One
https://www.readbyqxmd.com/read/29350182/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-2
#3
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
December 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29349433/popliteal-artery-entrapment-syndrome-presenting-as-acute-limb-ischemia-in-pregnancy
#4
William Sellers, Melissa Obmann, Shivprasad Nikam, Boyoung Song, David Mariner
Popliteal artery entrapment syndrome typically causes calf claudication in young active adults. Acute limb ischemia from popliteal artery thrombosis, embolization, or aneurysmal degeneration is less common. Chronic compression, histologic changes, and predisposing factors, such as vigorous exercise or hypercoagulability, play a role in these cases. We present the case of a 32-year-old pregnant woman with acute limb ischemia found to have popliteal artery thrombosis as a result of popliteal artery entrapment syndrome...
December 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29348635/publisher-correction-spermine-synthase-deficiency-causes-lysosomal-dysfunction-and-oxidative-stress-in-models-of-snyder-robinson-syndrome
#5
Chong Li, Jennifer M Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V Malicdan, Hongbo Wang, Luigi Boccuto, Charles E Schwartz, William A Gahl, Cornelius F Boerkoel, R Grace Zhai
The originally published version of this Article contained errors in Figure 1. In panel c, the grey shading denoting evolutionary conservation and the arrowheads indicating amino acids affected in Snyder-Robinson syndrome were displaced relative to the sequence. These errors have now been corrected in both the PDF and HTML versions of the manuscript.
January 18, 2018: Nature Communications
https://www.readbyqxmd.com/read/29346494/novel-myopia-genes-and-pathways-identified-from-syndromic-forms-of-myopia
#6
D Ian Flitcroft, James Loughman, Christine F Wildsoet, Cathy Williams, Jeremy A Guggenheim
Purpose: To test the hypothesis that genes known to cause clinical syndromes featuring myopia also harbor polymorphisms contributing to nonsyndromic refractive errors. Methods: Clinical phenotypes and syndromes that have refractive errors as a recognized feature were identified using the Online Mendelian Inheritance in Man (OMIM) database. One hundred fifty-four unique causative genes were identified, of which 119 were specifically linked with myopia and 114 represented syndromic myopia (i...
January 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29346049/microphthalmia-corneal-dermoids-and-congenital-anomalies-resembling-goldenhar-syndrome-in-a-cat
#7
William Berkowski, Ingeborg Langohr, Anthony Pease, Joshua Bartoe
CASE DESCRIPTION An 18-month-old spayed female domestic shorthair cat was evaluated because of conjunctivitis and skin-fold dermatitis secondary to bilateral microphthalmia, corneal dermoids, and ankyloblepharon. CLINICAL FINDINGS Physical examination revealed bilateral microphthalmia, bilaterally symmetrical corneal dermoids, ankyloblepharon, superior and inferior entropion, prognathism, and facial asymmetry with deviation of the nasal septum. Computed tomography revealed malformed, thickened bony orbits with mineralization of the orbital ligament bilaterally...
February 1, 2018: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/29344060/neuro-ophthalmic-presentation-of-neuro-sweet-disease
#8
Padmaja Sudhakar, Stuart Tobin, William O Connor, Sachin Kedar
Acute febrile neutrophilic dermatosis (Sweet syndrome) is a systemic inflammatory condition usually associated with autoimmune or neoplastic processes and characterised by inflammatory dermatologic lesions such as erythematous plaques and papules associated with fever and leukocytosis. Neurological and ophthalmological involvement is rare. The authors describe an unusual case of Sweet syndrome associated with microscopic polyangiitis presenting with papilloedema, anterior uveitis, and skin rash. Years later, he developed acute posterior multifocal placoid pigment epitheliopathy...
August 2017: Neuro-ophthalmology
https://www.readbyqxmd.com/read/29343712/zika-virus-infection-in-pregnant-rhesus-macaques-causes-placental-dysfunction-and-immunopathology
#9
Alec J Hirsch, Victoria H J Roberts, Peta L Grigsby, Nicole Haese, Matthias C Schabel, Xiaojie Wang, Jamie O Lo, Zheng Liu, Christopher D Kroenke, Jessica L Smith, Meredith Kelleher, Rebecca Broeckel, Craig N Kreklywich, Christopher J Parkins, Michael Denton, Patricia Smith, Victor DeFilippis, William Messer, Jay A Nelson, Jon D Hennebold, Marjorie Grafe, Lois Colgin, Anne Lewis, Rebecca Ducore, Tonya Swanson, Alfred W Legasse, Michael K Axthelm, Rhonda MacAllister, Ashlee V Moses, Terry K Morgan, Antonio E Frias, Daniel N Streblow
Zika virus (ZIKV) infection during pregnancy leads to an increased risk of fetal growth restriction and fetal central nervous system malformations, which are outcomes broadly referred to as the Congenital Zika Syndrome (CZS). Here we infect pregnant rhesus macaques and investigate the impact of persistent ZIKV infection on uteroplacental pathology, blood flow, and fetal growth and development. Despite seemingly normal fetal growth and persistent fetal-placenta-maternal infection, advanced non-invasive in vivo imaging studies reveal dramatic effects on placental oxygen reserve accompanied by significantly decreased oxygen permeability of the placental villi...
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#10
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29341805/a-case-study-approach-combined-with-modified-team-based-learning-to-teach-the-progression-of-metabolic-syndrome-to-type-2-diabetes
#11
Chaya Gopalan, William Kist
No abstract text is available yet for this article.
March 1, 2018: Advances in Physiology Education
https://www.readbyqxmd.com/read/29340590/efficacy-and-safety-of-deep-brain-stimulation-in-tourette-syndrome-the-international-tourette-syndrome-deep-brain-stimulation-public-database-and-registry
#12
Daniel Martinez-Ramirez, Joohi Jimenez-Shahed, James Frederick Leckman, Mauro Porta, Domenico Servello, Fan-Gang Meng, Jens Kuhn, Daniel Huys, Juan Carlos Baldermann, Thomas Foltynie, Marwan I Hariz, Eileen M Joyce, Ludvic Zrinzo, Zinovia Kefalopoulou, Peter Silburn, Terry Coyne, Alon Y Mogilner, Michael H Pourfar, Suketu M Khandhar, Man Auyeung, Jill Louise Ostrem, Veerle Visser-Vandewalle, Marie-Laure Welter, Luc Mallet, Carine Karachi, Jean Luc Houeto, Bryan Timothy Klassen, Linda Ackermans, Takanobu Kaido, Yasin Temel, Robert E Gross, Harrison C Walker, Andres M Lozano, Benjamin L Walter, Zoltan Mari, William S Anderson, Barbara Kelly Changizi, Elena Moro, Sarah Elizabeth Zauber, Lauren E Schrock, Jian-Guo Zhang, Wei Hu, Kyle Rizer, Erin H Monari, Kelly D Foote, Irene A Malaty, Wissam Deeb, Aysegul Gunduz, Michael S Okun
Importance: Collective evidence has strongly suggested that deep brain stimulation (DBS) is a promising therapy for Tourette syndrome. Objective: To assess the efficacy and safety of DBS in a multinational cohort of patients with Tourette syndrome. Design, Setting, and Participants: The prospective International Deep Brain Stimulation Database and Registry included 185 patients with medically refractory Tourette syndrome who underwent DBS implantation from January 1, 2012, to December 31, 2016, at 31 institutions in 10 countries worldwide...
January 16, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29339356/kidney-biomarkers-and-decline-in-egfr-in-patients-with-type-2-diabetes
#13
Katherine G Garlo, William B White, George L Bakris, Faiez Zannad, Craig A Wilson, Stuart Kupfer, Muthiah Vaduganathan, David A Morrow, Christopher P Cannon, David M Charytan
BACKGROUND AND OBJECTIVES: Biomarkers may improve identification of individuals at risk of eGFR decline who may benefit from intervention or dialysis planning. However, available biomarkers remain incompletely validated for risk stratification and prediction modeling. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We examined serum cystatin C, urinary kidney injury molecule-1 (uKIM-1), and urinary neutrophil gelatinase-associated lipocalin (UNGAL) in 5367 individuals with type 2 diabetes mellitus and recent acute coronary syndromes enrolled in the Examination of Cardiovascular Outcomes with Alogliptin versus Standard of Care (EXAMINE) trial...
January 16, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29337005/walker-warburg-syndrome-and-tectocerebellar-dysraphia-a-novel-association-caused-by-a-homozygous-dag1-mutation
#14
Zvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, Shani Ben Harouch, David Savitzki, Karina Krajden-Haratz, Liat Gindes, Mordechai Tamarkin, Dorit Lev, William B Dobyns, Tally Lerman-Sagie
OBJECTIVES: To elaborate the imaging phenotype associated with a homozygous c.743C > del frameshift mutation in DAG1 leading to complete absence of both α- and β-dystroglycan previously reported in a consanguineous Israeli-Arab family. METHODS: We analyzed prenatal and postnatal imaging data of patients from a consanguineous Israeli-Arab kindred harboring the DAG1 mutation. RESULTS: The imaging studies (fetal ultrasound, CT scan and postnatal MRI) demonstrated: flat cortex (abnormally thick with irregular pebbled cortical-white matter border on MRI), hydrocephalus, scattered small periventricular heterotopia and subependymal hemorrhages and calcifications, z-shaped brainstem, and in addition an occipital encephalocele, vermian agenesis, and an elongated and thick tectum (tectocerebellar dysraphia)...
December 26, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#15
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29331594/effects-of-physical-activity-on-the-symptoms-of-tourette-syndrome-a-systematic-review
#16
David D Kim, Darren E R Warburton, Nana Wu, Alasdair M Barr, William G Honer, Ric M Procyshyn
There is irrefutable evidence that routine physical activity or exercise can offer considerable health benefits to individuals living with various mental disorders. However, it is not clear what effect physical activity has on the symptoms of Tourette syndrome. Despite a paucity of evidence, physical activity or exercise has already been recommended by various health organizations for the management of tics. We provide a systematic review of the effects of physical activity or exercise on tic symptomology in individuals with Tourette syndrome...
December 8, 2017: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29326877/natural-history-of-morquio-a-patient-with-tracheal-obstruction-from-birth-to-death
#17
Caitlin Doherty, Lauren W Averill, Mary Theroux, William G Mackenzie, Christian Pizarro, Robert W Mason, Shunji Tomatsu
Morquio A syndrome (mucopolysaccharidosis IVA, MPS IVA) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-6-sulfate sulfatase, resulting in systemic accumulation of the partially degraded glycosaminoglycans (GAGs), keratan sulfate and chondroitin-6-sulfate. The accumulation of these GAGs leads to distinguishing features as skeletal dysplasia with disproportionate dwarfism, short neck, kyphoscoliosis, pectus carinatum, tracheal obstruction, coxa valga, genu valgum, and joint laxity...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29325166/drug-safety-and-immunogenicity-of-tumour-necrosis-factor-inhibitors-the-story-so-far
#18
Meghna Jani, William G Dixon, Hector Chinoy
TNF-α inhibitor (TNFi) therapies have transformed the treatment of several rheumatic musculoskeletal diseases. However, the majority of TNFi's are immunogenic and consequent anti-drug antibodies formation can impact on both treatment efficacy and safety. Several controversies exist in the area of immunogenicity of TNFis and drug safety. While anti-drug antibodies to TNFis have been described in association with infusion reactions; serious adverse events (AEs) such as thromboembolic events, lupus-like syndrome, paradoxical AEs, for example, vasculitis-like events and other autoimmune manifestations have also been reported...
January 8, 2018: Rheumatology
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#19
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29319591/zika-virus-infection-in-the-pregnant-woman
#20
Meghan Holtzman, William C Golden, Jeanne S Sheffield
Zika virus is a single-stranded RNA virus from the Flaviviridae family. Transmission is typically from the bite of an infected mosquito though mother-to-child, sexual and blood donation transmissions can occur. Although maternal symptoms are uncommon and rarely severe, the consequences of congenital infections are devastating. The emergence of congenital Zika syndrome is a world-wide public health crisis. The Centers for Disease Control and Prevention, ACOG, and SMFM have developed algorithms for screening and managing women exposure to and diagnosed with Zika virus infection...
January 9, 2018: Clinical Obstetrics and Gynecology
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