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Isaacs syndrome

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https://www.readbyqxmd.com/read/29316848/integrated-wearable-and-self-carrying-active-upper-limb-orthosis
#1
Roberto Merchant, David Cruz-Ortiz, Mariana Ballesteros-Escamilla, Isaac Chairez
The aim of this study was to develop a prototype of an orthotic system that can be used as a support tool in the rehabilitation of the upper limb. The construction of this device was motivated by the increasing number of subjects suffering from full or partial loss of the upper limb function as a consequence of spinal cord injuries, strokes, occupational syndromes and sports injuries. The majority of procedures used in upper limb rehabilitation consist of repetitive movements enforced by physiotherapists; a robotic device executing the same tasks seems to be a plausible solution if the orthosis can be programmed and controlled automatically...
January 1, 2018: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/29236593/role-of-genetic-testing-for-inherited-prostate-cancer-risk-philadelphia-prostate-cancer-consensus-conference-2017
#2
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/29223372/diagnostic-and-prognostic-plasma-biomarkers-for-idiopathic-pneumonia-syndrome-after-hematopoietic-cell-transplantation
#3
Sachiko Seo, Jeffrey Yu, Isaac C Jenkins, Wendy M Leisenring, Terry Steven-Ayers, Jane M Kuypers, Meei-Li Huang, Keith R Jerome, Michael Boeckh, Sophie Paczesny
Idiopathic pneumonia syndrome (IPS) is a non-infectious pulmonary complication after hematopoietic cell transplantation (HCT) and is difficult to diagnose. We evaluated six candidate proteins in plasma samples at day 7 after HCT and at onset of IPS from 41 IPS cases to identify potential IPS diagnostic or prognostic biomarkers. Samples at similar times from 162 HCT recipients without documented infections and 37 HCT recipients with respiratory viral pneumonia served as controls. In multivariable models, a combination of Stimulation-2 (ST2, OR 2...
December 6, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29160545/benign-familial-fleck-retina-multimodal-imaging-including-optical-coherence-tomography-angiography
#4
Jose Mauricio Botto de Barros Garcia, David Leonardo Cruvinel Isaac, Tainara Sardeiro, Érika Aquino, Marcos Avila
This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular area. Fundus autofluorescence and infrared imaging demonstrated a symmetrical pattern of yellow-white fleck lesions that affected both eyes. Her full-field electroretinogram and electrooculogram were normal. An optical coherence tomography B-scan was performed for both eyes, revealing increased thickness of the retinal pigmented epithelium leading to multiple small pigmented epithelium detachments...
September 2017: Arquivos Brasileiros de Oftalmologia
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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...
December 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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