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gilbert syndrome

Shegu Gilbert, Devender Singh, M Lawrance Jesuraj
Severe QT interval prolongation >500ms occurs in one quarter of cardiac surgical patients in the perioperative period while moderate prolongation occurs in most of them. Prolonged QT interval may be associated with torsades de pointes and lead to sudden cardiac death. Because of the high incidence of prolonged QT in cardiac surgery patients and its perioperative adverse outcomes, it is vital to identify it early and take necessary precautions. We report and discuss the catastrophic events and management of two patients with long QT syndrome complicating mitral valve replacement...
September 2016: Indian Heart Journal
Muhammad Wasif Saif, Melissa Hennessey Smith, Antonia Maloney, Robert B Diasio
Imatinib, an orally administered protein-tyrosine kinase inhibitor (TKI) is indicated for the treatment of chronic myeloid leukemia (CML) and gastrointestinal stromal tumor (GIST). Severe hepatotoxicity associated with imatinib is rare, and relationship to polymorphism of uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) expression and related frequency of hyperbilirubinemia or toxicity are not well known. We present a case series patients who developed hyperbilirubinemia while on oral administration imatinib for treatment of GIST...
October 2016: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
Jonathan Leong, Maria-Stella Serrano
No abstract text is available yet for this article.
September 27, 2016: Clinical Pediatrics
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie Ann Sosa, Rena Vassilopoulou-Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The K666N RET DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET K666N variant were assessed...
September 27, 2016: Thyroid: Official Journal of the American Thyroid Association
Gilbert Siu, Don Vongviphut, Megha Mandalaywala
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
Kelly Isaacs Cloes, Kara S Francis Barfell, Paul S Horn, Steve W Wu, Sarah E Jacobson, Kathleen J Hart, Donald L Gilbert
AIM: To evaluate and compare how children with Tourette syndrome and parents rate tic and non-tic behavioral related impairment in home, school, and social domains; to compare these with clinician tic ratings; and to identify factors that may predict greater impairment. METHOD: In a sample of 85 Tourette syndrome and 92 healthy control families, the Child Tourette Syndrome Impairment Scale, designed for parent-report and which includes 37 items rated for tic and non-tic impairment, was administered to parents and, with the referent modified, to children ages 9 to 17 years...
September 27, 2016: Developmental Medicine and Child Neurology
Antonella Sferra, Gilbert Baillat, Teresa Rizza, Sabina Barresi, Elisabetta Flex, Giorgio Tasca, Adele D'Amico, Emanuele Bellacchio, Andrea Ciolfi, Viviana Caputo, Serena Cecchetti, Annalaura Torella, Ginevra Zanni, Daria Diodato, Emanuela Piermarini, Marcello Niceta, Antonietta Coppola, Enrico Tedeschi, Diego Martinelli, Carlo Dionisi-Vici, Vincenzo Nigro, Bruno Dallapiccola, Claudia Compagnucci, Marco Tartaglia, Georg Haase, Enrico Bertini
Tubulinopathies constitute a family of neurodevelopmental/neurodegenerative disorders caused by mutations in several genes encoding tubulin isoforms. Loss-of-function mutations in TBCE, encoding one of the five tubulin-specific chaperones involved in tubulin folding and polymerization, cause two rare neurodevelopmental syndromes, hypoparathyroidism-retardation-dysmorphism and Kenny-Caffey syndrome. Although a missense mutation in Tbce has been associated with progressive distal motor neuronopathy in the pmn/pmn mice, no similar degenerative phenotype has been recognized in humans...
October 6, 2016: American Journal of Human Genetics
S Paluch-Shimon, F Cardoso, C Sessa, J Balmana, M J Cardoso, F Gilbert, E Senkus
No abstract text is available yet for this article.
September 2016: Annals of Oncology: Official Journal of the European Society for Medical Oncology
Alain Farra, Marilou Pagonendji, Alexandre Manikariza, Dieubéni Rawago, Rock Ouambita-Mabo, Gilbert Guifara, Ionela Gouandjika-Vasilache
BACKGROUND: Although rubella is generally considered a benign childhood disease, infection of a pregnant woman can cause foetal congenital rubella syndrome, which results in embryo-foetal disease and malformations. The syndrome is still a public health problem in developing countries where the vaccine has not yet been introduced, such as the Central African Republic (CAR). The aim of the study reported here was to define the epidemiology of primary rubella infection, in order to determine its effect on morbidity rates in the country...
2016: BMC Infectious Diseases
Christina M Davy, Gabriela F Mastromonaco, Julia L Riley, James H Baxter-Gilbert, Heather Mayberry, Craig K R Willis
Although it is well documented that infectious diseases can pose threats to biodiversity, the potential long-term consequences of pathogen exposure on individual fitness and its effects on population viability have rarely been studied. Here, we tested the hypothesis that pathogen exposure causes physiological carry-over effects, using a pathogen that is uniquely suited to this question because the infection period is specific and time-limited. The fungus Pseudogymnoascus destructans causes white-nose syndrome (WNS) in hibernating bats, which either die due to the infection while hibernating, or recover following emergence from hibernation...
September 18, 2016: Conservation Biology: the Journal of the Society for Conservation Biology
Lenka Slachtova, Ondrej Seda, Jana Behunova, Martin Mistrik, Pavel Martasek
No abstract text is available yet for this article.
October 2016: European Journal of Human Genetics: EJHG
Hakan Sarlak, Erol Arslan, Mustafa Cakar, Mustafa Tanriseven, Salim Ozenc, Muharrem Akhan, Fatih Bulucu
BACKGROUND: Unconjugated bilirubin (UCB) plays a protective role in coronary artery disease. Red cell distribution width (RDW), neutrophil to lymphocyte ratio (NLR) and platelet to lymphocyte ratio (PLR) are inflammatory biomarkers and higher levels are related to atherosclerosis and adverse cardiovascular events. AIM: We aimed to investigate the relation between UCB levels and RDW, NLR, PLR in people with Gilbert's syndrome (GS). MATERIALS AND METHODS: We selected 2166 subjects (1082 with GS and 1084 healthy controls) from a database having 33,695 people...
2016: SpringerPlus
Kavitha M Chinnaiyan, Gilbert L Raff
Acute chest pain (ACP) represents a clinical as well as economic challenge, often resulting in time-consuming, expensive evaluations to avoid missed diagnosis of acute coronary syndromes (ACSs). Coronary CT angiography (CTA) is an attractive noninvasive technique for use in the emergency department (ED) due to its high accuracy and negative predictive value. Recent studies have demonstrated that coronary CTA can aid in safe, rapid, and cost-efficient triage of these patients. Additional applications of plaque characterization, fractional flow analysis, and CT perfusion imaging hold promise in providing incremental data in patients with suspected ACS...
October 2016: Current Treatment Options in Cardiovascular Medicine
Anine H Stam, Parul H Kothari, Aisha Shaikh, Andreas Gschwendter, Joanna C Jen, Suzanne Hodgkinson, Todd A Hardy, Michael Hayes, Peter A Kempster, Katya E Kotschet, Ingeborg M Bajema, Sjoerd G van Duinen, Marion L C Maat-Schieman, Paulus T V M de Jong, Marc D de Smet, Didi de Wolff-Rouendaal, Greet Dijkman, Nadine Pelzer, Grant R Kolar, Robert E Schmidt, JoAnne Lacey, Daniel Joseph, David R Fintak, M Gilbert Grand, Elizabeth M Brunt, Helen Liapis, Rula A Hajj-Ali, Mark C Kruit, Mark A van Buchem, Martin Dichgans, Rune R Frants, Arn M J M van den Maagdenberg, Joost Haan, Robert W Baloh, John P Atkinson, Gisela M Terwindt, Michel D Ferrari
Cerebroretinal vasculopathy, hereditary vascular retinopathy, and hereditary endotheliopathy, retinopathy, nephropathy and stroke are neurovascular syndromes initially described as distinct entities. Recently they were shown to be one disease caused by C-terminal frame-shift mutations in TREX1, which was termed 'retinal vasculopathy with cerebral leukodystrophy'. Here we defined the genetic and clinicopathologic spectrum of this clinically and pathophysiologically poorly characterized and frequently misdiagnosed fatal neurovascular disorder...
September 6, 2016: Brain: a Journal of Neurology
Nigel S Key, Alok A Khorana, Nigel Mackman, Owen J T McCarty, Gilbert C White, Charles W Francis, Keith R McCrae, Joseph S Palumbo, Gary E Raskob, Andrew T Chan, Anil K Sood
The risk for venous thromboembolism (VTE) is increased in cancer and particularly with chemotherapy, and it portends poorer survival among patients with cancer. However, many fundamental questions about cancer-associated VTE, or Trousseau syndrome, remain unanswered. This report summarizes the proceedings of a working group assembled by the NCI and NHLBI in August 2014 to explore the state of the science in cancer-associated VTE, identify clinically important research gaps, and develop consensus on priorities for future research...
July 1, 2016: Cancer Research
Susan E Stanley, Dustin L Gable, Christa L Wagner, Thomas M Carlile, Vidya Sagar Hanumanthu, Joshua D Podlevsky, Sara E Khalil, Amy E DeZern, Maria F Rojas-Duran, Carolyn D Applegate, Jonathan K Alder, Erin M Parry, Wendy V Gilbert, Mary Armanios
Chronic obstructive pulmonary disease and pulmonary fibrosis have been hypothesized to represent premature aging phenotypes. At times, they cluster in families, but the genetic basis is not understood. We identified rare, frameshift mutations in the gene for nuclear assembly factor 1, NAF1, a box H/ACA RNA biogenesis factor, in pulmonary fibrosis-emphysema patients. The mutations segregated with short telomere length, low telomerase RNA levels, and extrapulmonary manifestations including myelodysplastic syndrome and liver disease...
August 10, 2016: Science Translational Medicine
Mohamed Abdulkadir, Jay A Tischfield, Robert A King, Thomas V Fernandez, Lawrence W Brown, Keun-Ah Cheon, Barbara J Coffey, Sebastian F T M de Bruijn, Lonneke Elzerman, Blanca Garcia-Delgar, Donald L Gilbert, Dorothy E Grice, Julie Hagstrøm, Tammy Hedderly, Isobel Heyman, Hyun Ju Hong, Chaim Huyser, Laura Ibanez-Gomez, Young Key Kim, Young-Shin Kim, Yun-Joo Koh, Sodahm Kook, Samuel Kuperman, Andreas Lamerz, Bennett Leventhal, Andrea G Ludolph, Marcos Madruga-Garrido, Athanasios Maras, Marieke D Messchendorp, Pablo Mir, Astrid Morer, Alexander Münchau, Tara L Murphy, Thaïra J C Openneer, Kerstin J Plessen, Judith J G Rath, Veit Roessner, Odette Fründt, Eun-Young Shin, Deborah A Sival, Dong-Ho Song, Jungeun Song, Anne-Marie Stolte, Jennifer Tübing, Els van den Ban, Frank Visscher, Sina Wanderer, Martin Woods, Samuel H Zinner, Matthew W State, Gary A Heiman, Pieter J Hoekstra, Andrea Dietrich
Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study...
November 2016: Journal of Psychiatric Research
Clea Staelens, Kurt Audenaert, Hannelore Tandt, Veroniek Van Driessche, Gilbert Lemmens
No abstract text is available yet for this article.
October 2016: Clinical Neurology and Neurosurgery
Vinita Misra Knight, Paul S Horn, Donald L Gilbert, Shannon M Standridge
BACKGROUND: Rett syndrome is a common genetic cause of intellectual disability in girls caused by a mutation in the MECP2 gene. Diagnosis is based on clinical criteria. The aim was to compare the frequencies of the clinical criteria in patients with and without MECP2 mutations. METHODS: We performed a retrospective review at a children's hospital of patients who underwent MECP2 testing from 2008 to 2013. Logistic regression was performed to determine which criteria were most predictive of MECP2 status...
October 2016: Pediatric Neurology
Rania Naoufal, Marine Legendre, Dominique Couet, Brigitte Gilbert-Dussardier, Alain Kitzis, Frederic Bilan, Radu Harbuz
Array comparative genomic hybridization (aCGH) is now widely adopted as a first-tier clinical diagnostic test for patients with developmental delay (DD)/intellectual disability (ID), autism spectrum disorders, and multiple congenital anomalies. Nevertheless, classic karyotyping still has its impact in diagnosing genetic diseases, particularly mosaic cases. We report on a 30 year old patient with syndromic intellectual disability, a 22q13.2 microdeletion and mosaic trisomy 22. The patient had the following clinical features: intrauterine growth retardation at birth, hypotonia, cryptorchidism, facial asymmetry, enophthalmus, mild prognathism, bifid uvula, hypoplastic upper limb phalanges, DD including speech delay, and ID...
September 2016: European Journal of Medical Genetics
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