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Hunter syndrome

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https://www.readbyqxmd.com/read/28329264/bow-hunter-syndrome-elicited-by-vertebral-arterial-occlusion-after-total-arch-replacement
#1
Hiroto Kitahara, Tomohiro Takeda, Kazumi Akasaka, Hiroyuki Kamiya
An 83-year-old man with arch aneurysm underwent total arch replacement with frozen elephant trunk and extra-anatomical left subclavian artery bypass. One year later, he felt dizziness associated with head rotation. The hypoplastic left vertebral artery was occluded by a thrombus extending from the left subclavian artery ligation site, and the dynamic stenosis of right vertebral artery by head rotation induced dizziness. He was diagnosed with Bow Hunter syndrome. Vertebral artery hypoplasia represents a possible cause of this rare complication...
January 31, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28321081/metoclopramide-induced-serotonin-syndrome
#2
Taku Harada, Takanobu Hirosawa, Kouhei Morinaga, Taro Shimizu
A 40-year-old woman with bipolar disorder who was taking mirtazapine presented with mydriasis, abnormal diaphoresis, myoclonus and muscle rigidity after taking metocloplamide. Her medical history, which included the use of serotonergic agents, and the presence of symptoms including myoclonus and muscle rigidity were consistent with a diagnosis of serotonin syndrome (SS) according to the Hunter criteria. The symptoms diminished following three days of treatment with oral lorazepam and cyproheptadine and a reduced dose of mirtazapine...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28303898/circulating-tumour-dna-reflects-treatment-response-and-clonal-evolution-in-chronic-lymphocytic-leukaemia
#3
Paul Yeh, Tane Hunter, Devbarna Sinha, Sarah Ftouni, Elise Wallach, Damian Jiang, Yih-Chih Chan, Stephen Q Wong, Maria Joao Silva, Ravikiran Vedururu, Kenneth Doig, Enid Lam, Gisela Mir Arnau, Timothy Semple, Meaghan Wall, Andjelija Zivanovic, Rishu Agarwal, Pasquale Petrone, Kate Jones, David Westerman, Piers Blombery, John F Seymour, Anthony T Papenfuss, Mark A Dawson, Constantine S Tam, Sarah-Jane Dawson
Several novel therapeutics are poised to change the natural history of chronic lymphocytic leukaemia (CLL) and the increasing use of these therapies has highlighted limitations of traditional disease monitoring methods. Here we demonstrate that circulating tumour DNA (ctDNA) is readily detectable in patients with CLL. Importantly, ctDNA does not simply mirror the genomic information contained within circulating malignant lymphocytes but instead parallels changes across different disease compartments following treatment with novel therapies...
March 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#4
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28274162/neonatal-outcomes-of-preterm-twins-according-to-mode-of-birth-and-presentation
#5
Tiffany Hunter, Jyotsna Shah, Anne Synnes, Sandesh Shivananda, Greg Ryan, Prakesh S Shah, Kellie E Murphy
PURPOSE: To compare neonatal outcomes of twins delivered <33 weeks' gestation in tertiary centers in Canada according to the mode of birth and presentation. MATERIALS AND METHODS: This retrospective cohort from the Canadian Neonatal Network database studied preterm twins born from 24 + 0 to 32 + 6 weeks' gestation between 2005 and 2012. Twins were grouped by the mode of birth: both vaginal, combined vaginal/cesarean section (CS), and both CS. Additionally, twins were grouped by the mode of presentation: both vertex, vertex/breech, breech/vertex, and both breech...
March 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28249770/long-qt-syndrome-and-left-ventricular-noncompaction-in-4-family-members-across-2-generations-with-kcnq1-mutation
#6
Mira Kharbanda, Amanda Hunter, Stephen Tennant, David Moore, Stephanie Curtis, Jules C Hancox, Victoria Murday
The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients...
February 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28229513/pathogenic-asxl1-somatic-variants-in-reference-databases-complicate-germline-variant-interpretation-for-bohring-opitz-syndrome
#7
Colleen M Carlston, Anne H O'Donnell-Luria, Hunter R Underhill, Beryl B Cummings, Ben Weisburd, Eric V Minikel, Daniel P Birnbaum, Tatiana Tvrdik, Daniel G MacArthur, Rong Mao
The clinical interpretation of genetic variants has come to rely heavily on reference population databases such as the Exome Aggregation Consortium (ExAC) database. Pathogenic variants in genes associated with severe, pediatric-onset, highly penetrant, autosomal dominant conditions are assumed to be absent or rare in these databases. Exome sequencing of a 6-year-old female patient with seizures, developmental delay, dysmorphic features, and failure to thrive identified an ASXL1 variant previously reported as causative of Bohring-Opitz syndrome (BOS)...
May 2017: Human Mutation
https://www.readbyqxmd.com/read/28217482/pebbling-of-skin-cutaneous-marker-of-hunter-syndrome
#8
Sahana M Srinivas, Madhuri Maganthi, G N Sanjeev
No abstract text is available yet for this article.
January 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28178428/effect-of-histophilus-somni-on-heart-and-brain-microvascular-endothelial-cells
#9
D O'Toole, R Hunter, T Allen, B Zekarias, J Lehmann, K S Kim, D Grab, L B Corbeil
Histophilus somni is a pathogenic gram-negative bacterium responsible for pneumonia and septicemia in cattle. Sequelae include infectious thrombotic meningoencephalitis (ITME), myocarditis, arthritis, and abortion. These syndromes are associated with widespread vasculitis and thrombosis, implicating a role for endothelium in pathogenesis. Histopathologic and immunohistochemical investigation of 10 natural cases of bovine H. somni myocarditis and 1 case of ITME revealed intravascular H. somni in large biofilm-like aggregates adherent to the luminal surface of microvascular endothelium...
January 1, 2017: Veterinary Pathology
https://www.readbyqxmd.com/read/28176204/universal-screening-for-lynch-syndrome-among-patients-with-colorectal-cancer-patient-perspectives-on-screening-and-sharing-results-with-at-risk-relatives
#10
Jessica Ezzell Hunter, Kathleen A Arnold, Jennifer E Cook, Jamilyn Zepp, Marian J Gilmore, Alan F Rope, James V Davis, Kellene M Bergen, Elizabeth Esterberg, Kristin R Muessig, Susan K Peterson, Sapna Syngal, Louise Acheson, Georgia Wiesner, Jacob Reiss, Katrina A B Goddard
Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28171221/the-significance-of-electron-microscopic-examination-of-gingiva-in-cases-of-hunter-syndrome-and-hereditary-gingival-fibromatosis
#11
Michal Straka, Lubos Danisovic, Vladimir Bzduch, Stefan Polak, Ivan Varga
INTRODUCTION: Electron microscopy has been for decades a basic morphological method still used in diagnostic protocols of some pathological conditions affecting the ultrastructure of cells and extracellular matrix. The aim of this study was an ultrastructural description of gingiva of patients with Hunter syndrome and hereditary gingival fibromatosis. PATIENTS AND METHODS: Gingival biopsies were obtained during surgical periodontal treatment from a 9-year-old boy with Hunter disease (with enzyme replacement therapy with recombinant human idursulphase) and a 15-year-old girl with hereditary gingival fibromatosis...
October 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/28159115/william-hunter-harridge-lecture-the-changing-face-of-short-gut-syndrome-management
#12
John J Fung
The evolution of managing short gut syndrome optimizes management and decision making of intestinal failure by way of a multidisciplinary team utilizing the latest advances in therapeutic options. Only the minority of patients referred for small bowel transplantation will actually need a transplant. Many of these patients can be rehabilitated without the need for transplant, by way of early referral, and thus the likelihood of medical therapy increases. On the other hand, in those patients with little likelihood of success with medical therapy, early referral decreases the morbidity and mortality associated with long-term total parenteral nutrition and associated complications and will improve their overall survival outcomes...
March 2017: American Journal of Surgery
https://www.readbyqxmd.com/read/28154186/structural-analysis-reveals-the-deleterious-effects-of-telomerase-mutations-in-bone-marrow-failure-syndromes
#13
Hunter Hoffman, Cory Rice, Emmanuel Skordalakes
Naturally occurring mutations in the ribonucleoprotein reverse transcriptase, telomerase, are associated with the bone marrow failure syndromes dyskeratosis congenita, aplastic anemia, and idiopathic pulmonary fibrosis. However, the mechanism by which these mutations impact telomerase function remains unknown. Here we present the structure of the human telomerase C-terminal extension (or thumb domain) determined by the method of single-wavelength anomalous diffraction to 2.31 Å resolution. We also used direct telomerase activity and nucleic acid binding assays to explain how naturally occurring mutations within this portion of telomerase contribute to human disease...
March 17, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28126926/molecular-disease-monitoring-using-circulating-tumor-dna-in-myelodysplastic-syndromes
#14
Paul Yeh, Michael Dickinson, Sarah Ftouni, Tane Hunter, Devbarna Sinha, Stephen Q Wong, Rishu Agarwal, Ravikiran Vedururu, Kenneth Doig, Chun Yew Fong, Piers Blombery, David Westerman, Mark A Dawson, Sarah-Jane Dawson
The diagnosis and monitoring of myelodysplastic syndromes (MDS) are highly reliant on bone marrow morphology, which is associated with substantial inter-observer variability. Azacitidine is the mainstay of treatment in MDS, however only half of all patients respond. Therefore, there is an urgent need for improved modalities for the diagnosis and monitoring of MDS. The majority of MDS patients have either clonal somatic karyotypic abnormalities and/or gene mutations that aid in the diagnosis and can be used to monitor treatment response...
January 26, 2017: Blood
https://www.readbyqxmd.com/read/28103342/failed-tracheal-intubation-in-a-child-with-unrecognized-hunter-s-syndrome-having-emergency-surgery
#15
F Meng, Y Li, G Wang, Q Wang
No abstract text is available yet for this article.
July 7, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/28087518/cardiovascular-function-in-male-and-female-jcr-la-cp-rats-effect-of-high-fat-high-sucrose-diet
#16
Ian Hunter, Amanda Soler, Gregory Joseph, Brenda Hutcheson, Chastity Bradford, Frank Fan Zhang, Barry Potter, Spencer Proctor, Petra Rocic
Thirty percent of the world population is diagnosed with metabolic syndrome. High-fat/high-sucrose (HF/HS) diet (Western diet) correlates with metabolic syndrome prevalence. We characterized effects of the HF/HS diet on vascular (arterial stiffness, vasoreactivity, and coronary collateral development) and cardiac (echocardiography) function, oxidative stress, and inflammation in a rat model of metabolic syndrome (JCR rats). Furthermore, we determined whether male versus female animals were affected differentially by the Western diet...
April 1, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#17
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28062802/moving-target-transient-rotational-stenosis-precipitating-jugular-bow-hunter-s-syndrome
#18
Waleed Brinjikji, Christopher S Graffeo, Avital Perry, Terence Zimmerman, Jeffrey R Janus, Pearce P Morris, Gregory D Cascino, Giuseppe Lanzino
A 60-year-old man presented with a 10-month history of of stereotypical spells characterized by vertigo, tinnitus, blurred vision, left hemibody numbness, and occasional syncope, precipitated by turning his head leftwards. Cerebral angiography and CT angiography of the head and neck with provocative maneuvers did not demonstrate vertebral artery narrowing. However, there was narrowing of the left internal jugular vein due to extrinsic compression from the sternocleidomastoid with leftward head rotation in the setting of hypoplasia of the right internal jugular vein...
January 6, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28018694/anterior-hypopituitarism-and-treatment-response-in-hunter-syndrome-a-comparison-of-two-patients
#19
Munier A Nour, Paola Luca, David Stephure, Xing-Chang Wei, Aneal Khan
Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28013357/physical-activity-but-not-sedentary-activity-is-reduced-in-primary-sj%C3%A3-gren-s-syndrome
#20
Wan-Fai Ng, Ariana Miller, Simon J Bowman, Elizabeth J Price, George D Kitas, Colin Pease, Paul Emery, Peter Lanyon, John Hunter, Monica Gupta, Ian Giles, David Isenberg, John McLaren, Marian Regan, Annie Cooper, Steven A Young-Min, Neil McHugh, Saravanan Vadivelu, Robert J Moots, David Coady, Kirsten MacKay, Bhaskar Dasgupta, Nurhan Sutcliffe, Michele Bombardieri, Costantino Pitzalis, Bridget Griffiths, Sheryl Mitchell, Samira Tatiyama Miyamoto, Michael Trenell
The aim of the study was to evaluate the levels of physical activity in individuals with primary Sjögren's syndrome (PSS) and its relationship to the clinical features of PSS. To this cross-sectional study, self-reported levels of physical activity from 273 PSS patients were measured using the International Physical Activity Questionnaire-short form (IPAQ-SF) and were compared with healthy controls matched for age, sex and body mass index. Fatigue and other clinical aspects of PSS including disease status, dryness, daytime sleepiness, dysautonomia, anxiety and depression were assessed using validated tools...
April 2017: Rheumatology International
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