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Hunter syndrom

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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
#1
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
#2
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...
April 25, 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-emergency-department
#3
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...
April 3, 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/29651028/author-correction-mapping-the-epidemic-changes-and-risks-of-hemorrhagic-fever-with-renal-syndrome-in-shaanxi-province-china-2005-2016
#10
Weifeng Liang, Xu Gu, Xue Li, Kangjun Zhang, Kejian Wu, Miaomiao Pang, Jianhua Dong, Hunter R Merrill, Tao Hu, Kun Liu, Zhongjun Shao, Hong Yan
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.
April 13, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29625729/corrigendum-to-elevated-20-hete-in-metabolic-syndrome-regulates-arterial-stiffness-and-systolic-hypertension-via-mmp12-activation-j-mol-cell-cardiol-117-2018-88-99
#11
Amanda Soler, Ian Hunter, Gregory Joseph, Rebecca Hutcheson, Brenda Hutcheson, Jenny Yang, Frank Fan Zhang, Sachindra Raj Joshi, Chastity Bradford, Katherine H Gotlinger, Rachana Maniyar, John R Falck, Spencer Proctor, Michal Laniado Schwartzman, Sachin A Gupte, Petra Rocic
No abstract text is available yet for this article.
April 4, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29618310/genetics-and-gene-therapy-in-hunter-disease
#12
Sestito Simona, Francesca Falvo, Rosalbina Apa, Licia Pensabene, Giuseppe Bonapace, Maria Teresa Moricca, Daniela Concolino
Mucopolysaccharidosis type II or Hunter syndrome is a rare X-linked lysosomal storage disorder due to a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The consequent enzyme deficiency leads to a progressive, multisystem accumulation of glycosaminoglycans throughout the body, which is the cause of the clinical manifestations involving also Central Nervous System for patients with the severe form of disease. The limits of the current available therapies for Hunter syndrome, hematopoietic stem cell transplantation and recombinant enzyme replacement therapy, mainly regarding brain achievement, encouraged several studies which recognized gene therapy as a potential therapeutic option for this condition...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29614069/prediction-of-extended-high-viremia-among-newly-hiv-1-infected-persons-in-sub-saharan-africa
#13
Kimberly A Powers, Matthew A Price, Etienne Karita, Anatoli Kamali, William Kilembe, Susan Allen, Eric Hunter, Linda-Gail Bekker, Shabir Lakhi, Mubiana Inambao, Omu Anzala, Mary H Latka, Patricia E Fast, Jill Gilmour, Eduard J Sanders
OBJECTIVE: Prompt identification of newly HIV-infected persons, particularly those who are most at risk of extended high viremia (EHV), allows important clinical and transmission prevention benefits. We sought to determine whether EHV could be predicted during early HIV infection (EHI) from clinical, demographic, and laboratory indicators in a large HIV-1 incidence study in Africa. DESIGN: Adults acquiring HIV-1 infection were enrolled in an EHI study assessing acute retroviral syndrome (ARS) symptoms and viral dynamics...
2018: PloS One
https://www.readbyqxmd.com/read/29588555/insulin-autoimmune-syndrome-a-rare-case-of-hypoglycaemia-resolving-with-immunosuppression
#14
A Hunter, U Graham, J R Lindsay
We report a case of a 58-year-old male presenting with confusion and hypoglycaemia. There had been no prior exposure to oral hypoglycaemic agents or insulin. He was found to have inappropriate endogenous hyperinsulinaemia. Insulinoma was excluded by detailed endocrine assessment. Insulin antibodies were positive in keeping with a diagnosis of insulin autoimmune syndrome (IAS). He was treated with prednisolone 5mg once daily and nutritional supplements leading to resolution of acute confusion and hypoglycaemic episodes...
January 2018: Ulster Medical Journal
https://www.readbyqxmd.com/read/29576490/is-the-inclinometer-a-valid-measure-of-thoracic-kyphosis-a-cross-sectional-study
#15
Donald J Hunter, Darren A Rivett, Sharmain McKiernan, Ishanka Weerasekara, Suzanne J Snodgrass
BACKGROUND: Radiographs are used to monitor thoracic kyphosis in individuals with certain pathologies (e.g. osteoporosis), exposing patients to potentially harmful radiation. Thus, other measures for monitoring the progression of thoracic kyphosis are desirable. The gravity-dependent inclinometer has been shown to be reliable but its validity as a measure of thoracic kyphosis has not been investigated. OBJECTIVES: To determine the validity of the gravity-dependent (analogue) inclinometer for measuring thoracic kyphosis...
March 6, 2018: Brazilian Journal of Physical Therapy
https://www.readbyqxmd.com/read/29566313/spinal-cord-stimulation-for-the-treatment-of-failed-neck-surgery-syndrome-outcome-of-a-prospective-case-series
#16
Corey W Hunter, Jonathan Carlson, Ajax Yang, Timothy Deer
OBJECTIVES: Spinal cord stimulation (SCS) is an accepted, cost-effective treatment option for a variety of chronic pain syndromes, including failed back surgery syndrome (FBSS). The application of SCS in the cervical spine, particularly for pain after cervical spine surgery, has been drawn into question in recent years by payers due to a purported lack of clinical evidence. To challenge this claim, we analyzed data from a prospective registry to support the use of SCS in the cervical spine for pain after spine surgery...
March 22, 2018: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29565946/anatomy-pathophysiology-and-interventional-therapies-for-chronic-pelvic-pain-a-review
#17
Corey W Hunter, Brad Stovall, Grant Chen, Jonathan Carlson, Robert Levy
BACKGROUND: Chronic pelvic pain (CPP) represents a group of poorly understood disorders that are often refractory to conventional treatment. Referral to pain management typically occurs later in the continuum of care; as such, many of the injections and nerve blocks commonly prescribed for such patients are potentially limited in efficacy. While neuromodulation is conventionally considered the next algorithmic step in the treatment of chronic pain after injections fail, there is a common perception that neuromodulation is largely ineffective for CPP conditions...
March 2018: Pain Physician
https://www.readbyqxmd.com/read/29550833/a-case-of-lown-ganong-levine-syndrome-due-to-an-accessory-pathway-of-james-fibers-or-enhanced-atrioventricular-nodal-conduction-eavnc
#18
Juanita Hunter, Emmanouil Tsounias, John Cogan, Ming-Lon Young
BACKGROUND Lown-Ganong-Levine syndrome, includes a short PR interval, normal QRS complex, and paroxysmal tachycardia. The pathophysiology of this syndrome includes an accessory pathway connecting the atria and the atrioventricular (AV) node (James fiber), or between the atria and the His bundle (Brechenmacher fiber). Similar features are seen in enhanced atrioventricular nodal conduction (EAVNC), with the underlying pathophysiology due to a fast pathway to the AV node, and with the diagnosis requiring specific electrophysiologic criteria...
March 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29527552/perioperative-airway-management-for-aortic-valve-replacement-in-an-adult-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#19
Kazuchika Suzuki, Hiroaki Sakai, Kenji Takahashi
We herein report anesthetic management during aortic valve replacement for aortic valve regurgitation in a patient with adult mucopolysaccharidosis type II (MPS type 2) (Hunter syndrome). This disorder is rare and related to the accumulation of a mucopolysaccharide in lysosomes. It affects various organs, including the airways, heart, and central nerves. In children with MPS type 2, the risk of airway obstruction during anesthesia/sedation is high, and the degree of difficulty increases with aging. The patient described herein was a 33-year-old male without mental retardation...
2018: JA Clinical Reports
https://www.readbyqxmd.com/read/29525821/effect-of-loading-dose-of-atorvastatin-prior-to-planned-percutaneous-coronary-intervention-on-major-adverse-cardiovascular-events-in-acute-coronary-syndrome-the-secure-pci-randomized-clinical-trial
#20
Otavio Berwanger, Eliana Vieira Santucci, Pedro Gabriel Melo de Barros E Silva, Isabella de Andrade Jesuíno, Lucas Petri Damiani, Lilian Mazza Barbosa, Renato Hideo Nakagawa Santos, Ligia Nasi Laranjeira, Flávia de Mattos Egydio, Juliana Aparecida Borges de Oliveira, Frederico Toledo Campo Dall Orto, Pedro Beraldo de Andrade, Igor Ribeiro de Castro Bienert, Carlos Eduardo Bosso, José Armando Mangione, Carisi Anne Polanczyk, Amanda Guerra de Moraes Rego Sousa, Renato Abdala Karam Kalil, Luciano de Moura Santos, Andrei Carvalho Sposito, Rafael Luiz Rech, Antônio Carlos Sobral Sousa, Felipe Baldissera, Bruno Ramos Nascimento, Roberto Rocha Corrêa Veiga Giraldez, Alexandre Biasi Cavalcanti, Sabrina Bernardez Pereira, Luiz Alberto Mattos, Luciana Vidal Armaganijan, Hélio Penna Guimarães, José Eduardo Moraes Rego Sousa, John Hunter Alexander, Christopher Bull Granger, Renato Delascio Lopes
Importance: The effects of loading doses of statins on clinical outcomes in patients with acute coronary syndrome (ACS) and planned invasive management remain uncertain. Objective: To determine if periprocedural loading doses of atorvastatin decrease 30-day major adverse cardiovascular events (MACE) in patients with ACS and planned invasive management. Design, Setting, and Participants: Multicenter, double-blind, placebo-controlled, randomized clinical trial conducted at 53 sites in Brazil among 4191 patients with ACS evaluated with coronary angiography to proceed with a percutaneous coronary intervention (PCI) if anatomically feasible...
March 11, 2018: JAMA: the Journal of the American Medical Association
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