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Isaacs syndrome

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https://www.readbyqxmd.com/read/29118981/zika-virus-disease-microcephaly-and-guillain-barr%C3%A3-syndrome-in-colombia-epidemiological-situation-during-21%C3%A2-months-of-the-zika-virus-outbreak-2015-2017
#1
Nelson Méndez, Misael Oviedo-Pastrana, Salim Mattar, Isaac Caicedo-Castro, German Arrieta
Background: The Zika virus disease (ZVD) has had a huge impact on public health in Colombia for the numbers of people affected and the presentation of Guillain-Barre syndrome (GBS) and microcephaly cases associated to ZVD. Methods: A retrospective descriptive study was carried out, we analyze the epidemiological situation of ZVD and its association with microcephaly and GBS during a 21-month period, from October 2015 to June 2017. The variables studied were: (i) ZVD cases, (ii) ZVD cases in pregnant women, (iii) laboratory-confirmed ZVD in pregnant women, (iv) ZVD cases associated with microcephaly, (v) laboratory-confirmed ZVD associated with microcephaly, and (vi) ZVD associated to GBS cases...
2017: Archives of Public Health, Archives Belges de Santé Publique
https://www.readbyqxmd.com/read/29099150/expanded-carrier-screening-in-gamete-donors-of-venezuela
#2
Maria Teresa Urbina, Isaac Benjamin, Randolfo Medina, José Jiménez, Laura Trías, Jorge Lerner
OBJECTIVE: To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS: One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier screening methods: Genzyme screening for Cystic Fibrosis (CF), Fragile X and Spinal Muscular Atrophy (SMA); Counsyl Universal panel or Recombine Carrier Map...
November 3, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28968370/peripheral-nerve-hyperexcitability-syndromes
#3
Komal Sawlani, Bashar Katirji
PURPOSE OF REVIEW: This article provides a review of the clinical phenotypes and evaluation of peripheral nerve hyperexcitability syndromes. These rare diagnoses include cramp-fasciculation syndrome, Isaacs syndrome, and Morvan syndrome. Recent investigations have led to an understanding of the autoimmune underpinnings of these conditions and their specific associated antibodies. As the presentation of peripheral nerve hyperexcitability syndromes includes muscle stiffness, twitches, and spasms, which are also shared with certain central nervous system and myopathic conditions, the differential diagnosis of peripheral nerve hyperexcitability syndromes is reviewed...
October 2017: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/28966040/evolution-and-prognosis-of-intramural-aortic-hematoma-insights-from-a-midterm-cohort-study
#4
Carlos Ferrera, Isidre Vilacosta, Juan Carlos Gómez-Polo, Sara Villanueva-Medina, Beatriz Cabeza, Luis Ortega, Victoria Cañadas, Manuel Carnero-Alcázar, Isaac Martínez-López, Luis Maroto-Castellanos, Francisco Javier Serrano-Hernando
BACKGROUND: Although several hypotheses have been proposed, the true origin and pathogenesis of aortic intramural hematoma (IMH) remain unclear. Evolution of patients with aortic IMH is highly variable. Progression to classic aortic dissection, aneurysm or to complete resolution have been described. Our purpose was to assess in-hospital and mid-term evolution of patients with aortic IMH. METHODS: From 2000 to 2015, 40 patients with aortic IMH were prospectively and consecutively recruited in a tertiary care referral center...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28931143/lyme-disease-vs-baggio-yoshinari-syndrome-in-a-returned-traveller-from-brazil
#5
Victor P Vien, Raghav Bassi, Timea Maxim, Isaac I Bogoch
No abstract text is available yet for this article.
September 1, 2017: Journal of Travel Medicine
https://www.readbyqxmd.com/read/28862395/phelan-mcdermid-syndrome-data-network-integrating-patient-reported-outcomes-with-clinical-notes-and-curated-genetic-reports
#6
Cartik Kothari, Maxime Wack, Claire Hassen-Khodja, Sean Finan, Guergana Savova, Megan O'Boyle, Geraldine Bliss, Andria Cornell, Elizabeth J Horn, Rebecca Davis, Jacquelyn Jacobs, Isaac Kohane, Paul Avillach
The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn...
September 1, 2017: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/28860777/efficacy-and-safety-of-paliperidone-palmitate-three-monthly-formulation-in-east-asian-patients-with-schizophrenia-subgroup-analysis-of-a-global-randomized-double-blind-phase-iii-noninferiority-study
#7
Adam J Savitz, Haiyan Xu, Srihari Gopal, Isaac Nuamah, Paulien Ravenstijn, David Hough, Maju Mathews, Yu Feng, Lu Yu, Masayoshi Takahashi, Dennis Liu, Gang Wang, Jin-Sang Yoon, Jiahn-Jyh Chen
OBJECTIVE: To demonstrate the efficacy and safety of paliperidone palmitate three-monthly (PP3M) formulation in an East Asian population with schizophrenia by subgroup analysis of a double-blind (DB), multicenter, noninferiority study. PATIENTS AND METHODS: Of 1,429 patients who entered the open-label (OL) phase, 510 were East Asian (China: 296 [58%], Japan: 175 [34%], South Korea: 19 [4%] and Taiwan: 20 [4%]). In the 17-week OL phase, patients received paliperidone palmitate once-monthly (PP1M) formulation on day 1 (150 mg eq...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28794082/loss-of-function-kcne2-variants-true-monogenic-culprits-of-long-qt-syndrome-or-proarrhythmic-variants-requiring-secondary-provocation
#8
Jason D Roberts, Andrew D Krahn, Michael J Ackerman, Ram K Rohatgi, Arthur J Moss, Babak Nazer, Rafik Tadros, Brenda Gerull, Shubhayan Sanatani, Yanushi D Wijeyeratne, Alban-Elouen Baruteau, Alison R Muir, Benjamin Pang, Julia Cadrin-Tourigny, Mario Talajic, Lena Rivard, David J Tester, Taylor Liu, Isaac R Whitman, Julianne Wojciak, Susan Conacher, Lorne J Gula, Peter Leong-Sit, Jaimie Manlucu, Martin S Green, Robert Hamilton, Jeff S Healey, Coeli M Lopes, Elijah R Behr, Arthur A Wilde, Michael H Gollob, Melvin M Scheinman
BACKGROUND: Insight into type 6 long-QT syndrome (LQT6), stemming from mutations in the KCNE2-encoded voltage-gated channel β-subunit, is limited. We sought to further characterize its clinical phenotype. METHODS AND RESULTS: Individuals with reported pathogenic KCNE2 mutations identified during arrhythmia evaluation were collected from inherited arrhythmia clinics and the Rochester long-QT syndrome (LQTS) registry. Previously reported LQT6 cases were identified through a search of the MEDLINE database...
August 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28782696/heritability-in-a-scn5a-mutation-founder-population-with-increased-female-susceptibility-to-non-nocturnal-ventricular-tachyarrhythmia-and-sudden-cardiac-death
#9
Rachel M A Ter Bekke, Aaron Isaacs, Andrei Barysenka, Marije B Hoos, Jan D H Jongbloed, Jan C A Hoorntje, Alfons S M Patelski, Apollonia T J M Helderman-van den Enden, Arthur van den Wijngaard, Monika Stoll, Paul G A Volders
BACKGROUND: Heritable cardiac-sodium channel dysfunction is associated with various arrhythmia syndromes, some predisposing to ventricular fibrillation. Phenotypic diversity among carriers of identical-by-descent mutations is often remarkable, suggesting influences of genetic modifiers. OBJECTIVE: The purpose of this study was to identify a unique SCN5A-mutation founder population with mixed clinical phenotypes and sudden cardiac death, and to investigate the heritability of electromechanical traits besides the SCN5A-mutation effect...
August 3, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28746986/the-histopathological-classification-diagnosis-and-differential-diagnosis-of-mucinous-appendiceal-neoplasms-appendiceal-adenocarcinomas-and-pseudomyxoma-peritonei
#10
REVIEW
Norman J Carr, Frederic Bibeau, Robert F Bradley, Peggy Dartigues, Roger M Feakins, Kim R Geisinger, Xianyong Gui, Sylvie Isaac, Massimo Milione, Joseph Misdraji, Reetesh K Pai, Manuel Rodriguez-Justo, Leslie H Sobin, Marie-Louise F van Velthuysen, Rhonda K Yantiss
The vermiform appendix is the primary site of several distinctive benign and malignant neoplasms. Some can produce the clinical syndrome of pseudomyxoma peritonei (PMP). A consensus on their terminology was reached by an international panel of pathologists and clinicians working under the auspices of the Peritoneal Surface Oncology Group International (PSOGI) and this review discusses the application of the PSOGI classification to routine reporting. We discuss diagnosis and differential diagnosis together with implications for patient management, covering low-grade appendiceal mucinous neoplasms, high-grade appendiceal mucinous neoplasms, serrated polyps, adenomas, and adenocarcinomas...
July 26, 2017: Histopathology
https://www.readbyqxmd.com/read/28724573/a-single-dose-of-peripherally-infused-egfrviii-directed-car-t-cells-mediates-antigen-loss-and-induces-adaptive-resistance-in-patients-with-recurrent-glioblastoma
#11
Donald M O'Rourke, MacLean P Nasrallah, Arati Desai, Jan J Melenhorst, Keith Mansfield, Jennifer J D Morrissette, Maria Martinez-Lage, Steven Brem, Eileen Maloney, Angela Shen, Randi Isaacs, Suyash Mohan, Gabriela Plesa, Simon F Lacey, Jean-Marc Navenot, Zhaohui Zheng, Bruce L Levine, Hideho Okada, Carl H June, Jennifer L Brogdon, Marcela V Maus
We conducted a first-in-human study of intravenous delivery of a single dose of autologous T cells redirected to the epidermal growth factor receptor variant III (EGFRvIII) mutation by a chimeric antigen receptor (CAR). We report our findings on the first 10 recurrent glioblastoma (GBM) patients treated. We found that manufacturing and infusion of CAR-modified T cell (CART)-EGFRvIII cells are feasible and safe, without evidence of off-tumor toxicity or cytokine release syndrome. One patient has had residual stable disease for over 18 months of follow-up...
July 19, 2017: Science Translational Medicine
https://www.readbyqxmd.com/read/28700432/novel-fumarate-hydratase-mutation-in-siblings-with-early-onset-uterine-leiomyomas-and-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome
#12
Vinay Gunnala, Nigel Pereira, Mohamad Irani, Debra Lilienthal, Edyta C Pirog, Robert Soslow, Thomas A Caputo, Rony Elias, Isaac Kligman, Zev Rosenwaks
Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous findings, however, delays in diagnosis are very common in patients with isolated uterine findings...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28673891/dural-arteriovenous-fistula-and-foix-alajouanine-syndrome-assessment-of-functional-scores-with-review-of-pathogenesis
#13
Carlito Lagman, Lawrance K Chung, Rohan V Chitale, Isaac Yang
OBJECTIVE: To assess the use of functional scores in the evaluation of patients with dural arteriovenous fistula and Foix-Alajouanine syndrome. METHODS: We systematically surveyed the literature to identify relevant patients. Aminoff-Logue Scale (ALS) and modified Rankin Scale (mRS) scores were ascertained and combined to form a novel functional score, the Aminoff-Rankin Composite (ARC) score. We compared functional scores between surgery and embolization groups and ran one-sided point-biserial analyses to test our expectation that positive correlations exist between functional scores and treatment outcomes...
October 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28666819/staged-definitive-repair-after-carotid-blowout-a-case-report
#14
Melissa N Loja, Christopher Abbot, Richard Isaacs, John Brawley, Misty Humphries
Carotid blowout syndrome is a highly morbid complication of head and neck cancer. We present the case of a 51-year-old woman with common carotid artery blowout, initially temporized with an endovascular stent graft and ultimately reconstructed using autologous superficial femoral artery. The patient recovered without sequelae and continues to be asymptomatic at 1 year. We present the modern hybrid management of this complex case.
June 27, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28660750/urinary-manifestations-in-isaacs-s-syndrome-our-experience-in-8-cases
#15
Silvia N Gonzalez Primomo, Leandro Blas, Alicia C Bertotti, Carlos Ameri
INTRODUCTION: Isaacs's syndrome (IS), is a rare neurological disorder, characterized by sustained muscular activity, fasciculations, cramps, myokymia, excessive sweating, and occasional elevation of creatine phosphokinase (CPK) enzyme. AIM: To report our experience in patients with IS and urinary manifestations, describing clinical findings, test's results, and response to treatment. Methods An observational, retrospective analysis of patients with IS and urinary manifestations treated at German Hospital of Buenos Aires between 2001 and 2011 was done...
June 29, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28653000/updates-in-mirizzi-syndrome
#16
REVIEW
Alan Isaac Valderrama-Treviño, Juan José Granados-Romero, Mariana Espejel-Deloiza, Jonathan Chernitzky-Camaño, Baltazar Barrera Mera, Aranza Guadalupe Estrada-Mata, Jesús Carlos Ceballos-Villalva, Jonathan Acuña Campos, Rubén Argüero-Sánchez
Mirizzi syndrome, known as extrinsic bile compression syndrome, is a rare complication of cholecystitis and chronic cholelithiasis, secondary to the obliteration of the infundibulum of the gallbladder or cystic duct caused by the impact of one or more calculations in these anatomical structures, which leads to compression of the adjacent bile duct, resulting in partial or complete obstruction of the common hepatic duct, triggering liver dysfunction. Our aim is to identify and describe the current epidemiology, diagnostic methods, and treatment of Mirizzi syndrome...
June 2017: Hepatobiliary Surgery and Nutrition
https://www.readbyqxmd.com/read/28649495/non-hyperammonaemic-valproate-encephalopathy-after-20%C3%A2-years-of-treatment
#17
Elizabeth Caruana Galizia, Jeremy D Isaacs, Hannah R Cock
Sodium valproate is a commonly used antiseizure drug with broad indications for different seizuretypes and epilepsy syndromes. Well-recognised side effects include weight gain, tremor, dizziness, and unsteadiness. Non-hyperammonaemic parkinsonism, with or without cognitive impairment, is a rare adverse effect of sodium valproate. We present the case of a sixty year-old lady with a generalized seizure disorder, treated with phenytoin, valproate, lamotrigine and clonazepam. Following withdrawal of phenytoin she developed an akinetic-rigid syndrome, with ataxia and marked cognitive impairment...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28643239/serum-histones-as-biomarkers-of-the-severity-of-heatstroke-in-dogs
#18
Yaron Bruchim, Isaac Ginsburg, Gilad Segev, Ahmad Mreisat, Yochai Avital, Itamar Aroch, Michal Horowitz
Heatstroke is associated with systemic inflammatory response syndrome, leading to multiple organ dysfunction and death. Currently, there is no specific treatment decreasing hyperthermia-induced inflammatory/hemostatic derangements. Emerging studies indicate that histones leaking from damaged cells into the extracellular space are toxic, pro-inflammatory, and pro-thrombotic. We therefore hypothesize that serum histones (sHs) are elevated during heatstroke and are associated with the severity of the disease. Sixteen dogs with heatstroke and seven healthy controls were included in the study...
November 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/28616354/comparing-american-european-and-asian-practice-guidelines-for-aortic-diseases
#19
Jose Rozado, Maria Martin, Isaac Pascual, Daniel Hernandez-Vaquero, Cesar Moris
The aortic disease comprises a group of different pathologies of high prevalence, seriousness and ever changing by the medical and surgical investigations. Therefore cardiovascular scientific societies in USA, Europe and Asia have created Task Force on practice guidelines (PG) to develop, update and revise PG for aortic diseases. These documents issue recommendations on the diagnosis and management of different aortic diseases. The three societies agree on the recommendations about diagnostic tests and on the value of computed tomography and magnetic resonance as the main tools for the diagnosis and follow-up of aortic disease...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28616342/bicuspid-aortic-valve-syndrome-a-multidisciplinary-approach-for-a-complex-entity
#20
REVIEW
María Martín, Rebeca Lorca, José Rozado, Rubén Alvarez-Cabo, Juan Calvo, Isaac Pascual, Helena Cigarrán, Isabel Rodríguez, César Morís
Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease. It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects...
May 2017: Journal of Thoracic Disease
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