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https://www.readbyqxmd.com/read/28538425/a-young-man-with-recurrent-paralysis
#1
Magdalena Chavez, Jeffrey Williams
Hypokalemia can cause reactions from mild muscular cramping to life-threatening paralysis and cardiac dysrhythmias. This article describes a patient whose unusual, recurrent muscular symptoms and electrolyte abnormalities were eventually identified as Gitelman syndrome, a rare genetic disorder resulting in severe refractory hypokalemia.
June 2017: JAAPA: Official Journal of the American Academy of Physician Assistants
https://www.readbyqxmd.com/read/28532774/genotype-positive-long-qt-syndrome-in-patients-with-coexisting-congenital-heart-disease
#2
Mohammed A Ebrahim, Matthew R Williams, Suzanne Shepard, James C Perry
Congenital long QT syndrome (LQTS) is characterized by QT prolongation with predisposition to life-threatening arrhythmia. There have been sporadic reports of LQTS coexisting with more common forms of congenital heart disease (CHD). However, the diagnosis of LQTS when CHD is present may be confounded by several common variables including postoperative electromechanical factors predisposing to ventricular arrhythmia, intrinsic, and postoperative QRS abnormalities. This report documents a single-center experience with patients who have both genetically confirmed LQTS and CHD to examine their modes of presentation and factors associated with making the diagnosis of LQTS in this patient population, as well as potential confounding variables that may mask or delay both LQTS diagnosis and initiation of therapy...
April 27, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#3
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28527961/major-aortopulmonary-collateral-arteries-with-anatomy-other-than-pulmonary-atresia-ventricular-septal-defect
#4
William L Patrick, Richard D Mainwaring, Olaf Reinhartz, Rajesh Punn, Theresa Tacy, Frank L Hanley
BACKGROUND: Major aortopulmonary collateral arteries (MAPCAs) are frequently found in association with pulmonary atresia with ventricular septal defect (PA/VSD). However, some patients with MAPCAs do not have PA/VSD but have a variety of other "atypical" anatomic diagnoses. METHODS: This was a retrospective review of patients with MAPCAs and atypical anatomy. The 50 patients with MAPCAs could be divided into two subgroups: (1) single ventricle anatomy (n = 33) and (2) two ventricle anatomy (n = 17)...
May 17, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28527921/drug-induced-fatal-arrhythmias-acquired-long-qt-and-brugada-syndromes
#5
REVIEW
Isik Turker, Tomohiko Ai, Hideki Itoh, Minoru Horie
Since the early 1990s, the concept of primary "inherited" arrhythmia syndromes or ion channelopathies has evolved rapidly as a result of revolutionary progresses made in molecular genetics. Alterations in genes coding for membrane proteins such as ion channels or their associated proteins responsible for the generation of cardiac action potentials (AP) have been shown to cause specific malfunctions which eventually lead to cardiac arrhythmias. These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome, progressive cardiac conduction disease, etc...
May 17, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28526311/dramatic-effects-of-a-new-antimicrobial-stewardship-program-in-a-rural-community-hospital
#6
Claudia R Libertin, Stephanie H Watson, William L Tillett, Joy H Peterson
BACKGROUND: New Joint Commission antimicrobial stewardship requirements took effect on January 1, 2017, promoted as a central strategy for coping with the emerging problems of antimicrobial resistance and Clostridium difficile infection. Our objective was to measure the effects of a new antimicrobial stewardship program (ASP) in a rural community hospital with no prior ASP, in the context of having a new infectious disease specialist on staff. METHODS: An ASP team was formed to implement a prospective audit with health care provider feedback and targeting 12 antimicrobial agents in a rural hospital in Georgia...
May 16, 2017: American Journal of Infection Control
https://www.readbyqxmd.com/read/28523947/potentiation-of-trap-6-induced-platelet-dense-granule-release-by-blockade-of-p2y12-signaling-with-mrs2395
#7
Annachiara Mitrugno, Rachel A Rigg, Nicole B Laschober, Anh T P Ngo, Jiaqing Pang, Craig D Williams, Joseph E Aslan, Owen J T McCarty
The release of ADP from platelet dense granules and its binding to platelet P2Y12 receptors is key to amplifying the initial hemostatic response and propagating thrombus formation. P2Y12 has thus emerged as a therapeutic target to safely and effectively prevent secondary thrombotic events in patients with acute coronary syndrome or a history of myocardial infarction. Pharmacological inhibition of P2Y12 receptors represents a useful approach to better understand the signaling mediated by these receptors and to elucidate the role of these receptors in a multitude of platelet hemostatic and thrombotic responses...
May 19, 2017: Platelets
https://www.readbyqxmd.com/read/28521049/22q11-2-deletion-syndrome-is-associated-with-impaired-auditory-steady-state-gamma-response
#8
Kit Melissa Larsen, Giovanni Pellegrino, Michelle Rosgaard Birknow, Trine Nørgaard Kjær, William Frans Christiaan Baaré, Michael Didriksen, Line Olsen, Thomas Werge, Morten Mørup, Hartwig Roman Siebner
Background: The 22q11.2 deletion syndrome confers a markedly increased risk for schizophrenia. 22q11.2 deletion carriers without manifest psychotic disorder offer the possibility to identify functional abnormalities that precede clinical onset. Since schizophrenia is associated with a reduced cortical gamma response to auditory stimulation at 40 Hz, we hypothesized that the 40 Hz auditory steady-state response (ASSR) may be attenuated in nonpsychotic individuals with a 22q11.2 deletion...
May 17, 2017: Schizophrenia Bulletin
https://www.readbyqxmd.com/read/28521042/induced-pluripotent-stem-cell-modelling-of-hlhs-underlines-the-contribution-of-dysfunctional-notch-signalling-to-impaired-cardiogenesis
#9
Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Ali Mohamoud Sheikh, Elango Ramu, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako, Lyle Armstrong
Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the left heart during development is a key factor in the development of the condition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown. We have generated induced pluripotent stem cells (iPSC) from five HLHS patients and two unaffected controls, differentiated these to cardiomyocytes and identified reproducible in vitro cellular and functional correlates of the HLHS phenotype...
May 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28515499/comment-on-tapentadol-and-serotonin-syndrome
#10
Michael E Mullins, William H Dribben
No abstract text is available yet for this article.
April 2017: Hospital Pharmacy
https://www.readbyqxmd.com/read/28515106/direct-comparison-of-2-rule-out-strategies-for-acute-myocardial-infarction-2-h-accelerated-diagnostic-protocol-vs-2-h-algorithm
#11
Karin Wildi, Louise Cullen, Raphael Twerenbold, Jaimi H Greenslade, William Parsonage, Jasper Boeddinghaus, Thomas Nestelberger, Zaid Sabti, Maria Rubini-Giménez, Christian Puelacher, Janosch Cupa, Lukas Schumacher, Patrick Badertscher, Karin Grimm, Nikola Kozhuharov, Claudia Stelzig, Michael Freese, Katharina Rentsch, Jens Lohrmann, Wanda Kloos, Andreas Buser, Tobias Reichlin, John Pickering, Martin Than, Christian Mueller
BACKGROUND: We compared 2 high-sensitivity cardiac troponin (hs-cTn)-based 2-h strategies in patients presenting with suspected acute myocardial infarction (AMI) to the emergency department (ED): the 2-h accelerated diagnostic protocol (2h-ADP) combining hs-cTn, electrocardiogram, and a risk score, and the 2-h algorithm exclusively based on hs-cTn concentrations and their absolute changes. METHODS: Analyses were performed in 2 independent diagnostic cohorts [European Advantageous Predictors of Acute Coronary Syndrome Evaluation (APACE) study, Australian-New Zealand 2-h Accelerated Diagnostic Protocol to Assess patients with chest Pain symptoms using contemporary Troponins as the only biomarker (ADAPT) study] employing hs-cTnT (Elecsys) and hs-cTnI (Architect)...
May 17, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28512184/effect-of-intensive-blood-pressure-lowering-on-left-ventricular-hypertrophy-in-patients-with-hypertension-the-systolic-blood-pressure-intervention-sprint-trial
#12
Elsayed Z Soliman, Walter T Ambrosius, William C Cushman, Zhu-Ming Zhang, Jeffrey T Bates, Javier A Neyra, Thaddeus Y Carson, Leonardo Tamariz, Lama Ghazi, Monique E Cho, Brian P Shapiro, Jiang He, Lawrence J Fine, Cora E Lewis
Background -It is currently unknown whether intensive blood pressure (BP) lowering beyond that recommended would lead to more lowering of the risk of Left ventricular hypertrophy (LVH) in patients with hypertension, and whether reducing the risk of LVH explains the reported cardiovascular disease (CVD) benefits of intensive BP lowering in this population. Methods -This analysis included 8,164 participants (mean age 67.9 years, 35.3% women, 31.2% blacks) with hypertension but no diabetes from the Systolic Blood Pressure Intervention (SPRINT) Trial; 4,086 randomly assigned to intensive BP lowering (target systolic BP<120mmHg) and 4,078 assigned to standard BP lowering (target systolic BP <140mmHg)...
May 16, 2017: Circulation
https://www.readbyqxmd.com/read/28503444/keratoconus-associated-with-williams-beuren-syndrome-a-new-case-report
#13
Soraya Mediero, Oriana D'Anna Mardero, Ana Boto de Los Bueis, Susana Noval Martín, Sixto García-Miñaur
No abstract text is available yet for this article.
2017: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/28501035/motivation-to-quit-smoking-after-acute-coronary-syndrome
#14
Vânia Rocha, Marina Guerra, Marina Lemos, Júlia Maciel, Geoffrey Williams
INTRODUCTION: Self-Determination Theory explores the process through which a person acquires motivation to initiate new behaviours related to health and to maintain them over time. This study aimed to determine the overall fit of Self-Determination Theory Model for Health Behavior to the data obtained from a sample of smokers hospitalized with acute coronary syndrome, and to identify the predictors of smoking status six months after clinical discharge. MATERIAL AND METHODS: The sample included 110 participants, regular smokers, hospitalized due to acute coronary syndrome...
January 31, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/28500230/conjunctival-lymphangiectasia-associated-with-classic-fabry-disease
#15
Melanie D Sivley, Eric L Wallace, David G Warnock, William J Benjamin
BACKGROUND: Fabry disease (FD) is a treatable multisystem disease caused by a defect in the alpha-galactosidase gene. Ocular signs of FD, including corneal verticillata, are among the earliest diagnostic findings. Conjunctival lymphangiectasia (CL) has not previously been associated with FD. METHODS: We examined the eyes of a cohort of 13 adult patients, eight men and five women, with documented classic FD, all treated with enzyme replacement therapy (ERT) at the University of Alabama at Birmingham between February 2014 and April 2015...
May 12, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28499504/williams-syndrome-deletions-and-duplications-genetic-windows-to-understanding-anxiety-sociality-autism-and-schizophrenia
#16
REVIEW
Bernard J Crespi, Tanya L Procyshyn
We describe and evaluate an integrative hypothesis for helping to explain the major neurocognitive features of individuals with Williams syndrome region deletions and duplications. First, we demonstrate how the cognitive differences between Williams syndrome individuals, individuals with duplications of this region, and healthy individuals parallel the differences between individuals subject to effects of increased or decreased oxytocin. Second, we synthesize evidence showing that variation in expression of the gene GTF2I (General Transcription Factor II-I) underlies the primary social phenotypes of Williams syndrome and that common genetic variation in GTF2I mediates oxytocin reactivity, and its correlates, in healthy populations...
May 10, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28497568/neuropsychological-phenotypes-of-76-individuals-with-joubert-syndrome-evaluated-at-a-single-center
#17
Angela C Summers, Joseph Snow, Edythe Wiggs, Alexander G Liu, Camilo Toro, Andrea Poretti, Wadih M Zein, Brian P Brooks, Melissa A Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C Mullikin, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28496094/apical-hypertrophic-cardiomyopathy-case-report-and-literature-review
#18
Tanya Doctorian, William J Mosley, Bao Do
BACKGROUND Apical hypertrophic cardiomyopathy (ApHCM) is a relatively rare form of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and typically has a nonobstructive physiology. Its variable presentation and clinical course render ApHCM a commonly delayed or missed diagnosis. CASE REPORT A 53-year-old Caucasian woman presented with chronic progressive chest pain. She was initially started on treatment for acute coronary syndrome. Diagnosis of ApHCM was initially missed on echocardiography, but made on subsequent cardiac catheterization and cardiac MRI...
May 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28493752/problem-gambling-symptomatology-and-alcohol-misuse-among-adolescents-a-parallel-process-latent-growth-curve-model
#19
Seema Mutti-Packer, David C Hodgins, Nady El-Guebaly, David M Casey, Shawn R Currie, Robert J Williams, Garry J Smith, Don P Schopflocher
The objective of the current study was to examine the possible temporal associations between alcohol misuse and problem gambling symptomatology from adolescence through to young adulthood. Parallel-process latent growth curve modeling was used to examine the trajectories of alcohol misuse and symptoms of problem gambling over time. Data were from a sample of adolescents recruited for the Leisure, Lifestyle, and Lifecycle Project in Alberta, Canada (n = 436), which included 4 assessments over 5 years. There was an average decline in problem gambling symptoms followed by an accelerating upward trend as the sample reached the legal age to gamble...
May 11, 2017: Psychology of Addictive Behaviors: Journal of the Society of Psychologists in Addictive Behaviors
https://www.readbyqxmd.com/read/28492457/the-role-of-amantadine-withdrawal-in-3-cases-of-treatment-refractory-altered-mental-status
#20
Leah D Fryml, Kristen R Williams, Christopher G Pelic, James Fox, Gregory Sahlem, Sophie Robert, Gonzalo J Revuelta, Edward Baron Short
Amantadine, which was originally developed as an antiviral medication, functions as a dopamine agonist in the central nervous system and consequently is utilized in the treatment of Parkinson disease, drug-induced extrapyramidal reactions, and neuroleptic malignant syndrome. For reasons that are not entirely understood, abrupt changes in amantadine dosage can produce a severe withdrawal syndrome. Existing medical literature describes case reports of amantadine withdrawal leading to delirium, which at times has progressed to neuroleptic malignant syndrome...
May 2017: Journal of Psychiatric Practice
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