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Isaacs syndrome

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https://www.readbyqxmd.com/read/28794082/loss-of-function-kcne2-variants-true-monogenic-culprits-of-long-qt-syndrome-or-proarrhythmic-variants-requiring-secondary-provocation
#1
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
#2
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: We identified a unique SCN5A-mutation founder population with mixed clinical phenotypes and sudden cardiac death, and investigated 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
#3
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
#4
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
#5
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-fistulas-and-foix-alajouanine-syndrome-evaluation-of-functional-scores-with-review-of-pathogenesis
#6
Carlito Lagman, Lawrance K Chung, Rohan V Chitale, Isaac Yang
OBJECTIVE: To evaluate the use of functional scores as predictors of symptom outcomes in patients with dural arteriovenous fistulas (dAVF) and Foix-Alajouanine syndrome. METHODS: The literature was systematically surveyed to identify 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. Subgroup analyses were performed for the comparison of surgery versus embolization and for patients with symptom duration less than 6 months...
June 30, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28666819/staged-definitive-repair-after-carotid-blowout-a-case-report
#7
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 one 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
#8
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
#9
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
#10
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
#11
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...
June 22, 2017: Cell Stress & Chaperones
https://www.readbyqxmd.com/read/28616354/comparing-american-european-and-asian-practice-guidelines-for-aortic-diseases
#12
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
#13
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
https://www.readbyqxmd.com/read/28613287/geriatric-syndromes-and-not-cardiovascular-risk-factors-are-associated-with-cognitive-impairment-among-mexican-community-dwelling-elderly-with-type-2-diabetes
#14
Omar Yaxmehen Bello-Chavolla, Carlos Alberto Aguilar-Salinas, José Alberto Avila-Funes
BACKGROUND: The association of cognitive impairment and type 2 diabetes has been consistently shown in several studies, yet its association with geriatric syndromes has not been fully explored. OBJECTIVE: To study the correlates of cognitive impairment among community-dwelling elderly with type 2 diabetes. METHODS: Cross-sectional study of 135 diabetic persons aged 70 years or older participating in the Coyoacán Cohort Study in Mexico City...
May 2017: Revista de Investigación Clínica; Organo del Hospital de Enfermedades de la Nutrición
https://www.readbyqxmd.com/read/28557584/nhs-gene-mutations-in-ashkenazi-jewish-families-with-nance-horan-syndrome
#15
Nadav Shoshany, Isaac Avni, Yair Morad, Chen Weiner, Adi Einan-Lifshitz, Eran Pras
PURPOSE: To describe ocular and extraocular abnormalities in two Ashkenazi Jewish families with infantile cataract and X-linked inheritance, and to identify their underlying mutations. METHODS: Seven affected members were recruited. Medical history, clinical findings, and biometric measurements were recorded. Mutation analysis of the Nance-Horan syndrome (NHS) gene was performed by direct sequencing of polymerase chain reaction-amplified exons. RESULTS: An unusual anterior Y-sutural cataract was documented in the affected male proband...
May 30, 2017: Current Eye Research
https://www.readbyqxmd.com/read/28553377/sporadic-hyperekplexia-plus-syndrome
#16
Sadanandavalli Retnaswami Chandra, Chetan Vekhande, Lakshminarayanapuram Gopal Viswanathan, Pooja Mailankody, Karru Venkata Ravi Teja
A disorder of infants and children with pathological startle response, features of other system involvement, falls, and stiffness with retained consciousness. It should be differentiated from conditions such as myoclonic epilepsy, psychogenic movement disorder, Isaac syndrome, Schwartz-Jampel syndrome, Gilles de la Tourette, and culture-specific startle syndromes such as jumping Frenchman of Maine. A 5-year-old child symptomatic with repeated falls spontaneously as well as by sound and activities since neonatal period...
January 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28552871/a-case-of-stiff-person-syndrome-due-to-secondary-adrenal-insufficiency
#17
Yuri Mizuno, Hiroo Yamaguchi, Taira Uehara, Kenichiro Yamashita, Ryo Yamasaki, Jun-Ichi Kira
We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. We first suspected stiff-person syndrome or Isaacs' syndrome because of her muscle stiffness. However, multiple hormones did not respond to stimulation tests, and an MRI of the brain showed atrophy of the pituitary gland with an empty sella...
May 26, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28529006/validation-of-a-next-generation-sequencing-pipeline-for-the-molecular-diagnosis-of-multiple-inherited-cancer-predisposing-syndromes
#18
Paula Paulo, Pedro Pinto, Ana Peixoto, Catarina Santos, Carla Pinto, Patrícia Rocha, Isabel Veiga, Gabriela Soares, Catarina Machado, Fabiana Ramos, Manuel R Teixeira
Despite the growing knowledge of the genetic background behind the cancers that occur in a context of hereditary predisposition, personal or family cancer history may not be clear enough to support directional gene testing. Defined targeted next-generation sequencing gene panels allow identification of the causative disease mutations of multigene syndromes and differential diagnosis for syndromes with phenotypically overlapping characteristics. Herein, we established a next-generation sequencing analysis pipeline for the molecular diagnosis of multiple inherited cancer predisposing syndromes using the commercially available target sequencing panel TruSight Cancer...
May 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28521179/biological-predictors-of-insulin-resistance-associated-with-posttraumatic-stress-disorder-in-young-military-veterans
#19
Esther M Blessing, Victor Reus, Synthia H Mellon, Owen M Wolkowitz, Janine D Flory, Linda Bierer, Daniel Lindqvist, Firdaus Dhabhar, Meng Li, Meng Qian, Duna Abu-Amara, Isaac Galatzer-Levy, Rachel Yehuda, Charles R Marmar
Posttraumatic stress disorder (PTSD) is associated with increased risk for Type 2 diabetes and cardiovascular disease (cardiometabolic disease), warranting research into targeted prevention strategies. In the present case-control study of 160 young (mean age 32.7 years) male military veterans, we aimed to assess whether PTSD status predicted increased markers of cardiometabolic risk in otherwise healthy individuals, and further, to explore biological pathways between PTSD and these increased markers of cardiometabolic risk...
May 1, 2017: Psychoneuroendocrinology
https://www.readbyqxmd.com/read/28484680/superior-semicircular-canal-dehiscence-in-a-patient-with-ehlers-danlos-syndrome-a-case-report
#20
Lawrance K Chung, Carlito Lagman, Daniel T Nagasawa, Quinton Gopen, Isaac Yang
Superior semicircular canal dehiscence (SSCD) is a bony defect in the middle cranial fossa floor that results in an abnormal connection between the inner ear and cranial vault. Although the etiology of SSCD remains unclear, an inappropriately thin or fragile temporal bone likely predisposes an individual towards developing SSCD. Ehlers-Danlos syndrome (EDS) constitutes a group of genetic connective tissue disorders caused by a defect in the production, processing, or structure of collagen, or its associated proteins...
April 6, 2017: Curēus
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