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Hunter syndrom

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
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 Clin Rep
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
Meghan M Chlebowski, Bryce A Heese, Lindsey E Malloy-Walton
Cardiac involvement has been reported in various mucopolysaccharidoses syndromes. Cardiac valve pathology is the most prominent cardiac manifestation of patients with these syndromes. To date, there have been no reports of early childhood onset of high-grade atrioventricular block in patients with Hunter syndrome. We present a case of a 3-year-old boy with Hunter syndrome who was found to have various degrees of atrioventricular block. This case highlights the importance of early routine cardiac screening for conduction abnormalities and close follow-up in patients with mucopolysaccharidoses syndromes...
March 6, 2018: Cardiology in the Young
David Z Cai, Ryan P Roach, John P Weaver, Gerald T McGillicuddy, Zachary M Mansell, Jonathan P Eskander, Mark S Eskander
This is a case report of a 48-year-old man with multiple transient ischemic attacks and a known hypoplastic right vertebral artery (VA) who presented after a syncopal event while turning his head to the left. The objective of this study is to demonstrate the necessity of proper diagnosis and management of cerebrovascular pathology including imaging and surgical intervention in patients with known anatomical anomalies. This study was conducted at Massachusetts, United States of America. Our patient's history was significant for a hypoplastic right VA and a stenotic segment of the right VA at the C3-C4 junction...
January 2018: Asian Journal of Neurosurgery
Marta Arpone, Emma K Baker, Lesley Bretherton, Minh Bui, Xin Li, Simon Whitaker, Cheryl Dissanayake, Jonathan Cohen, Chriselle Hickerton, Carolyn Rogers, Mike Field, Justine Elliott, Solange M Aliaga, Ling Ling, David Francis, Stephen J C Hearps, Matthew F Hunter, David J Amor, David E Godler
Increased intragenic DNA methylation of the Fragile X Related Epigenetic Element 2 (FREE2) in blood has been correlated with lower intellectual functioning in females with fragile X syndrome (FXS). This study explored these relationships in a paediatric cohort of males with FXS using Buccal Epithelial Cells (BEC). BEC were collected from 25 males with FXS, aged 3 to 17 years and 19 age-matched male controls without FXS. Methylation of 9 CpG sites within the FREE2 region was examined using the EpiTYPER approach...
February 26, 2018: Scientific Reports
Partha Pratim Chakraborty, Shinjan Patra, Sugata Narayan Biswas, Himanshu Barman
No abstract text is available yet for this article.
February 23, 2018: BMJ Case Reports
Julanne Frater, Ian G Williams, Colleen Hunter
No abstract text is available yet for this article.
February 1, 2018: Australian and New Zealand Journal of Psychiatry
Z Mike Chirenje, Nicholas Dhibi, H Hunter Handsfield, Elizabeth Gonese, Beth Tippett Barr, Lovemore Gwanzura, Ahmed S Latif, Dumisili Venessa Maseko, Ranmini S Kularatne, Mufuta Tshimanga, Peter H Kilmarx, Anna Machiha, Owen Mugurungi, Cornelis A Rietmeijer
INTRODUCTION: Symptomatic vaginal discharge is a common gynecological condition managed syndromically in most developing countries. In Zimbabwe, women presenting with symptomatic vaginal discharge are treated with empirical regimens that commonly cover both sexually transmitted infections (STI) and reproductive tract infections, typically including a combination of an intramuscular injection of kanamycin, and oral doxycycline and metronidazole regimens. This study was conducted to determine the current etiology of symptomatic vaginal discharge and assess adequacy of current syndromic management guidelines...
November 29, 2017: Sexually Transmitted Diseases
Michał Danek, Janusz Danek, Aleksander Araszkiewicz
Many animal models in different species have been developed for mental and behavioral disorders. This review presents large animals (dog, ovine, swine, horse) as potential models of this disorders. The article was based on the researches that were published in the peer-reviewed journals. Aliterature research was carried out using the PubMed database. The above issues were discussed in the several problem groups in accordance with the WHO International Statistical Classification of Diseases and Related Health Problems 10thRevision (ICD-10), in particular regarding: organic, including symptomatic, disorders; mental disorders (Alzheimer's disease and Huntington's disease, pernicious anemia and hepatic encephalopathy, epilepsy, Parkinson's disease, Creutzfeldt-Jakob disease); behavioral disorders due to psychoactive substance use (alcoholic intoxication, abuse of morphine); schizophrenia and other schizotypal disorders (puerperal psychosis); mood (affective) disorders (depressive episode); neurotic, stress-related and somatoform disorders (posttraumatic stress disorder, obsessive-compulsive disorder); behavioral syndromes associated with physiological disturbances and physical factors (anxiety disorders, anorexia nervosa, narcolepsy); mental retardation (Cohen syndrome, Down syndrome, Hunter syndrome); behavioral and emotional disorders (attention deficit hyperactivity disorder)...
December 30, 2017: Psychiatria Polska
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
Arterial stiffness plays a causal role in development of systolic hypertension. 20-hydroxyeicosatetraeonic acid (20-HETE), a cytochrome P450 (CYP450)-derived arachidonic acid metabolite, is known to be elevated in resistance arteries in hypertensive animal models and loosely associated with obesity in humans. However, the role of 20-HETE in the regulation of large artery remodeling in metabolic syndrome has not been investigated. We hypothesized that elevated 20-HETE in metabolic syndrome increases matrix metalloproteinase 12 (MMP12) activation leading to increased degradation of elastin, increased large artery stiffness and increased systolic blood pressure...
February 8, 2018: Journal of Molecular and Cellular Cardiology
S De Worm, J B Giot, C Courtoy, E Gillet, Sophie Amrane, P Huynen, M Van Esbroeck, E Prudent, H Lepidi, Matthieu Million, M Moutschen, Didier Raoult
We report a case of proven Coxiella burnetii aortitis, possibly associated with a giant cell arteritis (GCA). A seventy-two-year-old man, who is a hunter, presented with weight loss, fevers, jaw claudication and hardened temporal arteries associated with a persistent inflammatory syndrome and an arteritis of the whole aorta including the brachiocephalic arteries on the 18F-FDG PET/CT. A diagnosis of GCA was retained and a treatment with prednisolone was started. Given an aneurysm of the abdominal aorta, the patient underwent replacement of abdominal aorta with an allograft...
February 2, 2018: International Journal of Infectious Diseases: IJID
Mutsumi Fujii, Miki Ohgushi, Takaaki Chin
A 16-year-old boy presented with multiple posterior circulation ischemic strokes resulting from vertebral artery (VA) dissection. Three-dimensional computed tomography showed aberrant sub-occipital bone protuberance, proximal to the VA dissection. Since the patient was a habitual neck cracker, VA dissection was thought to result from the impact shock of the rotational head movement. This could be due to either the osseous prominence or the compression between the prominence and the C1. Although it is a rare etiology of Bow Hunter's syndrome, VA dissection due to sub-occipital bone spur because of neck cracking should be considered in the diagnosis of Bow Hunter's syndrome in juvenile patients...
February 6, 2018: British Journal of Neurosurgery
Dianne Dash, Chelsea Dash, Sara Primrose, Lizbeth Hernandez-Ronquillo, Farzad Moien-Afshari, Lady D Ladino, Juan Pablo Appendino, Lindsay Mazepa, Christine Elliott, Seyed M Mirsattari, Paolo Federico, Esther Bui, Gary Hunter, Rajesh RamachandranNair, Rohit Sharma, Paula Melendres, Joanne Nikkel, Dang Khoa Nguyen, Salah Almubarak, Mike Rigby, Jose F Téllez-Zenteno
Surface electroencephalogram (EEG) recording remains the gold standard for noninvasive assessment of electrical brain activity. It is the most efficient way to diagnose and classify epilepsy syndromes as well as define the localization of the epileptogenic zone. The EEG is useful for management decisions and for establishing prognosis in some types of epilepsy. Electroencephalography is an evolving field in which new methods are being introduced. The Canadian Society of Clinical Neurophysiologists convened an expert panel to develop new national minimal guidelines...
November 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
Anna Malmsten, Ulf Magnusson, Francisco Ruiz-Fons, David González-Barrio, Anne-Marie Dalin
The wild boar ( Sus scrofa) population has increased markedly during the last three decades in Sweden and in other parts of Europe. This population growth may lead to increased contact between the wild boar and the domestic pig ( Sus scrofa scrofa), increasing the risk of transmission of pathogens. The objective of our study was to estimate the seroprevalence of selective pathogens, known to be shared between wild boars and domestic pigs in Europe, in three wild boar populations in Sweden. In total, 286 hunter-harvested female wild boars were included in this study...
January 29, 2018: Journal of Wildlife Diseases
Jeffrey A Cohen, Samuel F Hunter, Theodore R Brown, Mark Gudesblatt, Ben W Thrower, Lily Llorens, Cindy J Souza-Prien, April E Ruby, David N Chernoff, Rajiv Patni
BACKGROUND: Walking impairment causes disability and reduced quality of life in patients with multiple sclerosis (MS). OBJECTIVE: Characterize the safety and efficacy of ADS-5102 (amantadine) extended release capsules, 274 mg administered once daily at bedtime in patients with MS with walking impairment. METHODS: This randomized, double-blind, placebo-controlled, 4-week study was conducted at 14 trial sites in the United States. Study objectives included safety and tolerability of ADS-5102, and efficacy assessments (Timed 25-Foot Walk (T25FW), Timed Up and Go (TUG), 2-Minute Walk Test, and Multiple Sclerosis Walking Scale-12)...
January 1, 2018: Multiple Sclerosis: Clinical and Laboratory Research
Linda A Koehler, David W Hunter, Anne H Blaes, Tufia C Haddad
Background: Axillary web syndrome (AWS) can develop following breast cancer surgery and presents as a tight band of tissue in the axilla with shoulder abduction. Objective: The objectives were to determine the prevalence and natural history of AWS, and the association between AWS and function, range of motion, pain, lymphedema, and body mass index (BMI). Design: This study was a longitudinal prospective cohort study utilizing a repeated measures design...
January 18, 2018: Physical Therapy
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
Hemorrhagic fever with renal syndrome (HFRS) is a major rodent-borne zoonosis. Each year worldwide, 60,000-100,000 HFRS human cases are reported in more than seventy countries with almost 90% these cases occurring in China. Shaanxi Province in China has been among the most seriously affected areas since 1955. During 2009-2013, Shaanxi reported 11,400 human cases, the most of all provinces in China. Furthermore, the epidemiological features of HFRS have changed over time. Using long-term data of HFRS from 2005 to 2016, we carried out this retrospective epidemiological study combining ecological assessment models in Shaanxi...
January 15, 2018: Scientific Reports
Pedro Marques, Rupert Spencer, Patrick J Morrison, Ian M Carr, Mary N Dang, David T Bonthron, Steven Hunter, Márta Korbonits
CONTEXT: Pseudoacromegaly describes conditions with an acromegaly related physical appearance without abnormalities in the growth hormone (GH) axis. Acromegaloid facies, together with hypertrichosis, are typical manifestations of Cantú syndrome. CASE DESCRIPTION: We present a three-generation family with 5 affected members, with marked acromegaloid facies and prominent hypertrichosis, due to a novel missense variant in the ABCC9 gene. The proband, a 2-year-old girl, was referred due to marked hypertrichosis, noticed soon after birth, associated with coarsening of her facial appearance...
January 11, 2018: Endocrine
Kimberly Hamilton, Brandon Rocque, Nathaniel Brooks
BACKGROUND: Deer hunting is popular in much of the United States. In Wisconsin, use of tree stands for hunting is common. Spine surgeons at a Level 1 Trauma Center observed a high incidence of spine and spinal cord injury due to falls from tree stands while hunting. This study's purpose is to systematically characterize and classify those injuries. METHODS: We reviewed the University of Wisconsin Hospital and Clinics' trauma database for tree stand-related injuries from 1999 to 2013...
November 2017: WMJ: Official Publication of the State Medical Society of Wisconsin
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