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Hunter syndrome

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https://www.readbyqxmd.com/read/29921051/-classification-of-acute-vestibular-syndrome
#1
Q X Yao, H Wang, Q Luo, Z D Yu, H B Shi, S K Yin
Objective: To explore the epidemiological characteristics and to help accomplish accurate diagnosis and treatment strategies by analyzing the composition and clinical features of various diseases with acute constant vertigo. Method: We retrospectively analyzed medical records (including name, sex, age, diabetes, hypertension, history of vertigo, family history, etc.),otoneurological examination, vestibular function tests and radiological examination of patients with acute vestibular syndrome.We classified various diseases according to diagnostic criteria, and then analyze the clinical data...
June 5, 2018: Journal of Clinical Otorhinolaryngology, Head, and Neck Surgery
https://www.readbyqxmd.com/read/29902609/minimally-invasive-surgical-treatment-for-vertebral-artery-compression-in-a-patient-with-one-sided-ponticulus-posticus-and-ponticulus-lateralis-a-case-report
#2
Victor Lukianchikov, Ivan Lvov, Andrey Grin, Anton Kordonskiy, Natalia Polunina, Vladimir Krylov
BACKGROUND: Kimmerle anomaly is characterised by ossification of the posterior atlanto-occipital membrane with formation of a complete or incomplete bony ridge in the area of the groove for the vertebral artery (VA) (ponticulus posticus, PP). In some cases, the bony ridge may also be formed at the level of the VA emerging from the transverse process of the С1 vertebra (ponticulus lateralis, PL). The simultaneous one-sided formation of PL and PP is very rare. There are no literature data concerning surgical treatment for compression of the VA due to PL...
June 11, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29900417/the-tatton-brown-rahman-syndrome-a-clinical-study-of-55-individuals-with-de-novo-constitutive-dnmt3a-variants
#3
Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I Karen Temple, Peter Turnpenny, Lionel Val Maldergem, Vinod Varghese, Hermine E Veenstra-Knol, Naomi Yachelevich, Laura Yates, Nazneen Rahman
Tatton-Brown-Rahman syndrome (TBRS; OMIM 615879), also known as the DNMT3A-overgrowth syndrome, is an overgrowth intellectual disability syndrome first described in 2014 with a report of 13 individuals with constitutive heterozygous DNMT3A variants. Here we have undertaken a detailed clinical study of 55 individuals with de novo DNMT3A variants, including the 13 previously reported individuals. An intellectual disability and overgrowth were reported in >80% of individuals with TBRS and were designated major clinical associations...
2018: Wellcome Open Research
https://www.readbyqxmd.com/read/29889865/hiv-infection-in-patients-with-sexually-transmitted-infections-in-zimbabwe-results-from-the-zimbabwe-sti-etiology-study
#4
Peter H Kilmarx, Elizabeth Gonese, David A Lewis, Z Mike Chirenje, Beth A Tippett Barr, Ahmed S Latif, Lovemore Gwanzura, H Hunter Handsfield, Anna Machiha, Owen Mugurungi, Cornelius A Rietmeijer
BACKGROUND: HIV and other sexually transmitted infections (STI) frequently co-occur. We conducted HIV diagnostic testing in an assessment of the etiologies of major STI syndromes in Zimbabwe. METHODS: A total of 600 patients were enrolled at six geographically diverse, high-volume STI clinics in Zimbabwe in 2014-15: 200 men with urethral discharge, 200 women with vaginal discharge, and 100 men and 100 women each with genital ulcer disease (GUD). Patients completed a questionnaire, underwent a genital examination, and had specimens taken for etiologic testing...
2018: PloS One
https://www.readbyqxmd.com/read/29880767/prenatal-diagnosis-of-fragile-x-syndrome-in-a-twin-pregnancy-complicated-by-a-complete-retraction
#5
Yael Prawer, Matthew Hunter, Sara Cronin, Ling Ling, Solange Aliaga Vera, Michael Fahey, Nikki Gelfand, Ralph Oertel, Essra Bartlett, David Francis, David Godler
Fragile X syndrome (FXS) is usually associated with a CGG repeat expansion >200 repeats within the FMR1 gene, known as a full mutation (FM). FM alleles produce abnormal methylation of the FMR1 promoter with reduction or silencing of FMR1 gene expression. Furthermore, premutation (PM: 55⁻199 CGGs) and full mutation alleles usually expand in size when maternally transmitted to progeny. This study describes a PM allele carried by the mother decreasing to a normal sized allele in a male from a dichorionic diamniotic (DCDA) twin pregnancy, with the female twin inheriting FM (200⁻790 CGGs), PM (130 CGGs) and normal-sized (39 CGGs) alleles...
June 7, 2018: Genes
https://www.readbyqxmd.com/read/29871549/a-patient-with-remote-heparin-induced-thrombocytopenia-and-antiphospholipid-syndrome-requiring-cardiopulmonary-bypass-do-current-guidelines-apply
#6
Warsame Ibrahim, Hunter Nakia, Miller Stephen, Spiess Bruce, Whitson Bryan, Perez William
Anticoagulation for cardiopulmonary bypass (CPB) is required to prevent acute disseminated intravascular coagulation and clot formation within the bypass circuit. Unfractionated heparin is the standard anticoagulant for CPB due to its many advantages and long history of successful use. However, heparin has the unique drawback of triggering Heparin-PF4 (PF4) antibodies potentially leading to heparin-induced thrombocytopenia (HIT). We have limited data regarding reformation of antibodies if a patient has had a prior (remote) antibody production or full HIT...
June 1, 2018: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29862106/hunter-syndrome-diagnosed-by-otorhinolaryngologist
#7
Ayako Hashimoto, Tadayuki Kumagai, Hiroyuki Mineta
Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). It has an estimated incidence of approximately 1 in 1,62,000 live male births. We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist. To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease. The patient was a 4-year-old boy. He underwent adenotonsillectomy...
2018: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/29862088/unexpected-exacerbation-of-tracheal-stenosis-in-a-patient-with-hunter-syndrome-undergoing-cardiac-surgery
#8
Nobue Terabe, Soichiro Yamashita, Makoto Tanaka
We report unexpected exacerbation of tracheal stenosis during general anesthesia in a 50-year-old patient with Hunter syndrome undergoing cardiac surgery for valvular disease. He had undergone cervical laminoplasty 3 months previously; at that time, his airway had been uneventfully managed. Preoperative flexible fiberoptic laryngoscopy showed a normal upper respiratory tract, but chest computed tomography showed tracheal stenosis that had flattened the lumen. The narrowest part above the tracheal bifurcation was 2 cm long and the anteroposterior diameter was ≤6 mm...
2018: Case Reports in Anesthesiology
https://www.readbyqxmd.com/read/29860540/intrathecal-baclofen-in-mucopolysaccharidosis-type-ii-hunter-syndrome-case-report
#9
František Horn, Michal Petrík, Dana Dúbravová, Jarmila Hornová, Katrína Brennerová, Vladimír Bzduch
PURPOSE: Intrathecal baclofen administration is commonly used in the treatment of children's spasticity. In general, candidates for baclofen pump are patients with spastic form of cerebral palsy. Intrathecal baclofen in the treatment of spasticity due to a metabolic disorder is rarely reported. METHODS: Authors report on an 11-year-old boy with mucopolysaccharidosis type II (Hunter syndrome) with progressive stiffness and contractures followed by profound loss of joint movement range and tiptoe walking pattern...
June 2, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29796773/bilateral-bow-hunter-s-syndrome-mimicking-a-classic-seizure-semiology
#10
Asher J Albertson, Terrance T Kummer
No abstract text is available yet for this article.
May 23, 2018: Neurocritical Care
https://www.readbyqxmd.com/read/29782317/dementia-research-populations-progress-problems-and-predictions
#11
Sally Hunter, Nadja Smailagic, Carol Brayne
Alzheimer's disease (AD) is a clinicopathologically defined syndrome leading to cognitive impairment. Following the recent failures of amyloid-based randomized controlled trials to change the course of AD, there are growing calls for a re-evaluation of basic AD research. Epidemiology offers one approach to integrating the available evidence. Here we examine relationships between evidence from population-based, clinicopathological studies of brain aging and a range of hypotheses from all areas of AD research...
May 16, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29760830/patient-and-provider-perspectives-on-adherence-to-and-care-coordination-of-lynch-syndrome-surveillance-recommendations-findings-from-qualitative-interviews
#12
Jennifer L Schneider, Katrina A B Goddard, Kristin R Muessig, James V Davis, Alan F Rope, Jessica E Hunter, Susan K Peterson, Louise S Acheson, Sapna Syngal, Georgia L Wiesner, Jacob A Reiss
Background: Patients with a genetic variant associated with Lynch syndrome (LS) are recommended to undergo frequent and repeated cancer surveillance activities to minimize cancer-related morbidity and mortality. Little is known about how patients and primary care providers (PCPs) track and manage these recommendations. We conducted a small exploratory study of patient and PCP experiences with recommended LS surveillance activities and communication with family members in an integrated health care system...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29696776/the-phenotypic-spectrum-of-xia-gibbs-syndrome
#13
Yunyun Jiang, Michael F Wangler, Amy L McGuire, James R Lupski, Jennifer E Posey, Michael M Khayat, David R Murdock, Luis Sanchez-Pulido, Chris P Ponting, Fan Xia, Jill V Hunter, Qingchang Meng, Mullai Murugan, Richard A Gibbs
Xia-Gibbs syndrome (XGS: OMIM # 615829) results from de novo truncating mutations within the AT-Hook DNA Binding Motif Containing 1 gene (AHDC1). To further define the phenotypic and molecular spectrum of this disorder, we established an XGS Registry and recruited patients from a worldwide pool of approximately 60 probands. Additional de novo truncating mutations were observed among 25 individuals, extending both the known number of mutation sites and the range of positions within the coding region that were sensitive to alteration...
June 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29695327/high-sensitivity-troponin-the-sisyphean-pursuit-of-zero-percent-miss-rate-for-acute-coronary-syndrome-in-the-ed
#14
REVIEW
Shane M Summers, Brit Long, Michael D April, Alex Koyfman, Curtis J Hunter
BACKGROUND: The United States Food and Drug Administration recently approved a high sensitivity troponin (hsTn) assay for use. Recent literature has investigated the diagnostic accuracy of hsTn for acute coronary syndrome (ACS) in the emergency department (ED) and its use in accelerated diagnostic protocols. OBJECTIVE: This article evaluates the existing literature and discusses incorporation of hsTn testing into ED clinical practice based on best available evidence...
June 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#15
Michal Schäfer, Lorna P Browne, Uyen Truong, James J Jaggers, Max B Mitchell, Ladonna Malone, Gareth Morgan, Kathryn Chatfield, Daniel McLennan, Harma Turbendian, Danial Vargas, Brian Fonseca, Michael DiMaria, Anar Shah, Margaret P Ivy, Alex J Barker, Kendall S Hunter, Neil Wilson, D Dunbar Ivy, David N Campbell
OBJECTIVES: Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV. METHODS: Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging...
April 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29682046/c1-c2-transverse-foramen-decompression-by-anterolateral-approach-as-an-alternative-treatment-in-bow-hunter-s-syndrome
#16
Serdar Çevik, Salim Katar, Hakan Hanımoǧlu
Bow hunter's syndrome (BHS) is characterized with repeating paroxysmal vertigo, nystagmus and ataxia caused by mechanical compression of the vertebral arteries. There is no definite diagnostic and treatment protocol. 26-year-old female patient admitted to the outpatient clinic with complaints of dizziness and seldom falls. Stenosis in the right vertebral artery at the level of C1 and C2 was discovered by the diagnostic modalities. In our patient, we first performed hemilaminectomy by posterior approach. But the symptoms of the patient did not recede, thus we performed decompression with the anterolateral approach by opening the foramens atlas and axis without disrupting the dynamics of the vertebrae and without the need for stabilization...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29681225/the-united-kingdom-and-ireland-experience-of-the-haemodialysis-reliable-outflow-graft-for-vascular-access
#17
James P Hunter, Simon R Knight, N Inston, D Ridway, A Tavakoli, S Suttie, D Kingsmore, T Brown, S Sultan, J Gilbert
OBJECTIVES: To describe the UK and Ireland experience of the Haemodialysis Reliable Outflow graft in complex vascular access. DESIGN: Observational, multi-centre case series. METHODS: Data from any patient undergoing Haemodialysis Reliable Outflow graft were collected from eight UK and one Irish centre. Any Haemodialysis Reliable Outflow procedure between July 2013 and May 2016 was included. Demographics, primary and secondary patency rates, and complications were analysed...
April 1, 2018: Journal of Vascular Access
https://www.readbyqxmd.com/read/29678320/care-of-the-patient-with-a-peripheral-nerve-block
#18
Oluwatobi O Hunter, T Edward Kim, Edward R Mariano, T Kyle Harrison
Long-acting peripheral nerve blocks provide effective postoperative pain management, but there are risks associated with rendering an extremity insensate. Perianesthesia nurses play a major role in anticipating and mitigating risks and carefully monitoring patients for potential complications. This article presents uncommon but important considerations related to the care of patients with a peripheral nerve block. These include compartment syndrome, local anesthetic systemic toxicity, thermal injuries, falls, and fractures as well as their management and prevention...
April 17, 2018: Journal of Perianesthesia Nursing: Official Journal of the American Society of PeriAnesthesia Nurses
https://www.readbyqxmd.com/read/29671225/effectiveness-of-early-hematopoietic-stem-cell-transplantation-in-preventing-neurocognitive-decline-in-mucopolysaccharidosis-type-ii-a-case-series
#19
A Selvanathan, C Ellaway, C Wilson, P Owens, P J Shaw, K Bhattacharya
The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline...
April 19, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29652291/whole-lung-lavage-in-a-patient-with-pulmonary-alveolar-proteinosis
#20
Lindsay R Hunter Guevara, Shane M Gillespie, Alan M Klompas, Norman E Torres, David W Barbara
Pulmonary alveolar proteinosis (PAP) is a rare syndrome in which phospholipoproteinaceous matter accumulates in the alveoli leading to compromised gas exchange. Whole-lung lavage is considered the gold standard for severe autoimmune PAP and offers favorable long-term outcomes. In this case report, we describe the perioperative management and procedural specifics of a patient undergoing WLL for PAP in which an anesthesiologist serves as the proceduralist and a separate anesthesiologist provides anesthesia care for the patient...
April 2018: Annals of Cardiac Anaesthesia
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