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Hunter syndrom

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https://www.readbyqxmd.com/read/29327300/cant%C3%A3%C2%BA-syndrome-with-coexisting-familial-pituitary-adenoma
#1
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
https://www.readbyqxmd.com/read/29323806/spine-and-spinal-cord-injuries-after-falls-from-tree-stands-during-the-wisconsin-deer-hunting-season
#2
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
https://www.readbyqxmd.com/read/29314214/oral-and-craniofacial-manifestations-in-a-hunter-syndrome-patient-with-hematopoietic-stem-cell-transplantation-a-case-report
#3
Rafaela de Oliveira Torres, Andréa Vaz Braga Pintor, Fábio Ribeiro Guedes, Liana Bastos Freitas-Fernandes, Anneliese Lopes Barth, Dafne Dain Gandelman Horovitz, Ivete Pomarico Ribeiro de Souza
We described herein the oral and craniofacial features of a 7-year-old boy, diagnosed in utero with mucopolysaccharidosis II (MPS II), who was treated with hematopoietic stem cell transplantation (HSCT) at 70 days of age. The main oral clinical findings were the following: macroglossia, posterior cross-bite, crowding, pointed cuspid teeth, delayed tooth eruption, retained primary teeth, and enamel hypoplasia. The image examination showed: retention eruption, posterior primary teeth with short roots, absence of some permanent teeth, and stretching of the stylohyoid processes bilaterally...
January 4, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29240636/the-etiology-of-genital-ulcer-disease-and-coinfections-with-chlamydia-trachomatis-and-neisseria-gonorrhoeae-in-zimbabwe-results-from-the-zimbabwe-sti-etiology-study
#4
More Mungati, Anna Machiha, Owen Mugurungi, Mufuta Tshimanga, Peter H Kilmarx, Justice Nyakura, Gerald Shambira, Vitalis Kupara, David A Lewis, Elizabeth Gonese, Beth A Tippett Barr, H Hunter Handsfield, Cornelis A Rietmeijer
BACKGROUND: In many countries, sexually transmitted infections (STIs) are treated syndromically. Thus, patients diagnosed as having genital ulcer disease (GUD) in Zimbabwe receive a combination of antimicrobials to treat syphilis, chancroid, lymphogranuloma venereum (LGV), and genital herpes. Periodic studies are necessary to assess the current etiology of GUD and assure the appropriateness of current treatment guidelines. MATERIALS AND METHODS: We selected 6 geographically diverse clinics in Zimbabwe serving high numbers of STI cases to enroll men and women with STI syndromes, including GUD...
January 2018: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/29240635/the-etiology-of-male-urethral-discharge-in-zimbabwe-results-from-the-zimbabwe-sti-etiology-study
#5
Cornelis A Rietmeijer, More Mungati, Anna Machiha, Owen Mugurungi, Vitalis Kupara, Luanne Rodgers, Peter H Kilmarx, Amy Herman Roloff, Elizabeth Gonese, Beth A Tippett-Barr, Gerald Shambira, David A Lewis, H Hunter Handsfield, Mufuta Tshimanga
INTRODUCTION: Sexually transmitted infections (STIs) are managed syndromically in most developing countries. In Zimbabwe, men presenting with urethral discharge are treated with a single intramuscular dose of kanamycin or ceftriaxone in combination with a week's course of oral doxycycline. This study was designed to assess the current etiology of urethral discharge and other STIs to inform current syndromic management regimens. METHODS: We conducted a study among 200 men with urethral discharge presenting at 6 regionally diverse STI clinics in Zimbabwe...
January 2018: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/29225776/the-sedentary-r-evolution-have-we-lost-our-metabolic-flexibility
#6
Jens Freese, Rainer Johannes Klement, Begoña Ruiz-Núñez, Sebastian Schwarz, Helmut Lötzerich
During the course of evolution, up until the agricultural revolution, environmental fluctuations forced the human species to develop a flexible metabolism in order to adapt its energy needs to various climate, seasonal and vegetation conditions. Metabolic flexibility safeguarded human survival independent of food availability. In modern times, humans switched their primal lifestyle towards a constant availability of energy-dense, yet often nutrient-deficient, foods, persistent psycho-emotional stressors and a lack of exercise...
2017: F1000Research
https://www.readbyqxmd.com/read/29210605/cognitive-and-behaviour-profiles-of-children-with-mucopolysaccharidosis-type-ii
#7
Louise Crowe, Joy Yaplito-Lee, Vicki Anderson, Heidi Peters
Mucopolysaccharidosis Type II (MPS II) or Hunter Syndrome is a rare X-linked condition, due to a defect in a lysosomal enzyme involved in the breakdown of glycosaminoglycans. It is a progressive condition with worsening over time; however, symptom severity and progression rates vary. Normal intellectual function has been reported in males with mild MPS II but few studies are available that provide comprehensive cognitive profiles. Enzyme replacement therapy (ERT) can stabilize physical symptoms and has become standard treatment...
September 2017: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29207768/controversies-in-serotonin-syndrome-diagnosis-and-management-a-review
#8
REVIEW
Mohd Faisal Uddin, Richard Alweis, Syed Raza Shah, Noman Lateef, Waqas Shahnawaz, Rohan Kumar Ochani, Amin Muhammad Dharani, Syed Arbab Shah
Over the past few years, Serotonin Syndrome (SS) has become a significant clinical concern. Over the last decade, United States saw a surge in antidepressant use. SS characteristically presents as the triad of altered mental status, autonomic dysfunction and neuromuscular excitation. Symptoms vary from patient to patient with mild cases presenting with subacute symptoms and severe cases progressing rapidly to death. Due to the protean manifestations of the syndrome along with non-specific prodromal, SS can easily be misdiagnosed if not carefully assessed...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29199434/a-single-centre-prospective-cohort-study-addressing-the-effect-of-a-rule-in-rule-out-troponin-algorithm-on-routine-clinical-practice
#9
Jack Marjot, Thomas E Kaier, Katherine Henderson, Laura Hunter, Michael S Marber, Divaka Perera
AIMS: In 2015, the European Society of Cardiology introduced new guidelines for the diagnosis of acute coronary syndromes in patients presenting without persistent ST-segment elevation. These guidelines included the use of high-sensitivity troponin assays for 'rule-in' and 'rule-out' of acute myocardial injury at presentation (using a '0 hour' blood test). Whilst these algorithms have been extensively validated in prospective diagnostic studies, the outcome of their implementation in routine clinical practice has not been described...
December 1, 2017: European Heart Journal. Acute Cardiovascular Care
https://www.readbyqxmd.com/read/29158997/presentation-and-treatments-for-mucopolysaccharidosis-type-ii-mps-ii-hunter-syndrome
#10
Molly Stapleton, Francyne Kubaski, Robert W Mason, Hiromasa Yabe, Yasuyuki Suzuki, Kenji E Orii, Tadao Orii, Shunji Tomatsu
Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan sulfate (HS). MPS II is both multi-systemic and progressive. Phenotypes are classified as either attenuated or severe (based on absence or presence of central nervous system impairment, respectively). Areas covered: Current treatments available are intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), anti-inflammatory treatment, and palliative care with symptomatic surgeries...
2017: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/29091713/after-the-epidemic-zika-virus-projections-for-latin-america-and-the-caribbean
#11
Felipe J Colón-González, Carlos A Peres, Christine Steiner São Bernardo, Paul R Hunter, Iain R Lake
BACKGROUND: Zika is one of the most challenging emergent vector-borne diseases, yet its future public health impact remains unclear. Zika was of little public health concern until recent reports of its association with congenital syndromes. By 3 August 2017 ∼217,000 Zika cases and ∼3,400 cases of associated congenital syndrome were reported in Latin America and the Caribbean. Some modelling exercises suggest that Zika virus infection could become endemic in agreement with recent declarations from the The World Health Organisation...
November 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29035941/arterial-stiffness-and-cardiometabolic-phenotype-of-cameroonian-pygmies-and-bantus
#12
William Ngatchou, Daniel Lemogoum, Christian Mélot, Virginie Guimfacq, Philippe van de Borne, Jean Claude Wautrecht, Michel P Hermans, Luc Van Bortel, Marc Leeman
BACKGROUND: Pygmies living in the Central African rainforest with a traditional hunter-gatherer lifestyle have a low incidence of cardiovascular diseases. Because of progressive loss of traditional habitat and ancestral lands, some Pygmies have migrated to urban areas and adopt specific Bantu lifestyles such as increased salt consumption and a sedentary way of life. We tested the hypothesis that migrant Pygmies could present with hemodynamic and metabolic characteristics different from those of traditional in-situ Pygmies and possibly closer to those of Bantu farmers...
October 13, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/29033043/in%C3%A2-vivo-lung-perfusion-rehabilitates-sepsis-induced-lung-injury
#13
J Hunter Mehaffey, Eric J Charles, Sarah Schubert, Morgan Salmon, Ashish K Sharma, Dustin Money, Mark H Stoler, Victor E Laubach, Curtis G Tribble, Mark E Roeser, Irving L Kron
BACKGROUND: Sepsis is the leading cause of lung injury in adults and can lead to acute respiratory distress syndrome (ARDS). Using a novel technique of isolated in vivo lung perfusion (IVLP), we hypothesized that normothermic IVLP will improve oxygenation and compliance in a porcine model of sepsis-induced lung injury. METHODS: Mature adult swine (n = 8) were administered lipopolysaccharide (LPS; 50 μg/kg over 2 hours) via the external jugular vein, followed by sternotomy and central extracorporeal membrane oxygenation (ECMO) cannulation (right atrium to ascending aorta)...
September 14, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29018650/surgical-treatment-of-rotational-vertebral-artery-syndrome-induced-by-spinal-tumor-a-case-report-and-literature-review
#14
Shoichi Haimoto, Yusuke Nishimura, Masahito Hara, Yuu Yamamoto, Toshiki Fukuoka, Ryuichi Fukuyama, Toshihiko Wakabayashi, Howard J Ginsberg
Vertebrobasilar insufficiency (VBI) provoked by physiological head rotation is known as rotational vertebral artery syndrome (RVAS) or Bow Hunter syndrome. RVAS most often occurs at C1-2 level with head rotation and presents with symptoms of VBI. Several previously published studies have reported RVAS at subaxial sites (V2 segment), however, tumor-induced RVAS has never been reported. The authors report the first case of RVAS at V2 segment due to compression from a spinal tumor. A 71-year-old man presented with symptoms of dizziness provoked by head rotation or neck extension...
October 2017: NMC Case Report Journal
https://www.readbyqxmd.com/read/28974237/clinical-outcomes-in-idursulfase-treated-patients-with-mucopolysaccharidosis-type-ii-3-year-data-from-the-hunter-outcome-survey-hos
#15
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
BACKGROUND: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of patients with MPS II enrolled in the Hunter Outcome Survey (HOS). METHODS: As of January 2016, 639 patients (excluding female patients, individuals who had received a bone marrow transplant and those enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trial) followed prospectively in the registry had received idursulfase for ≥6 months...
October 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28968900/eligibility-for-clinical-trials-in-primary-sj%C3%A3-gren-s-syndrome-lessons-from-the-uk-primary-sj%C3%A3-gren-s-syndrome-registry
#16
Clare Oni, Sheryl Mitchell, Katherine James, Wan-Fai Ng, Bridget Griffiths, Victoria Hindmarsh, Elizabeth Price, Colin T Pease, Paul Emery, Peter Lanyon, Adrian Jones, Michele Bombardieri, Nurhan Sutcliffe, Costantino Pitzalis, John Hunter, Monica Gupta, John McLaren, Annie Cooper, Marian Regan, Ian Giles, David Isenberg, Vadivelu Saravanan, David Coady, Bhaskar Dasgupta, Neil McHugh, Steven Young-Min, Robert Moots, Nagui Gendi, Mohammed Akil, Francesca Barone, Ben Fisher, Saaeha Rauz, Andrea Richards, Simon J Bowman
No abstract text is available yet for this article.
August 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28950859/protocol-for-a-multi-centre-randomised-controlled-trial-comparing-arthroscopic-hip-surgery-to-physiotherapy-led-care-for-femoroacetabular-impingement-fai-the-australian-fashion-trial
#17
Nicholas J Murphy, Jillian Eyles, Kim L Bennell, Megan Bohensky, Alexander Burns, Fraser M Callaghan, Edward Dickenson, Camdon Fary, Stuart M Grieve, Damian R Griffin, Michelle Hall, Rachel Hobson, Young Jo Kim, James M Linklater, David G Lloyd, Robert Molnar, Rachel L O'Connell, John O'Donnell, Michael O'Sullivan, Sunny Randhawa, Stephan Reichenbach, David J Saxby, Parminder Singh, Libby Spiers, Phong Tran, Tim V Wrigley, David J Hunter
BACKGROUND: Femoroacetabular impingement syndrome (FAI), a hip disorder affecting active young adults, is believed to be a leading cause of hip osteoarthritis (OA). Current management approaches for FAI include arthroscopic hip surgery and physiotherapy-led non-surgical care; however, there is a paucity of clinical trial evidence comparing these approaches. In particular, it is unknown whether these management approaches modify the future risk of developing hip OA. The primary objective of this randomised controlled trial is to determine if participants with FAI who undergo hip arthroscopy have greater improvements in hip cartilage health, as demonstrated by changes in delayed gadolinium-enhanced magnetic resonance imaging (MRI) of cartilage (dGEMRIC) index between baseline and 12 months, compared to those who undergo physiotherapy-led non-surgical management...
September 26, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28943421/rotational-vertebral-artery-dissection-secondary-to-anomalous-entrance-into-transverse-foramen
#18
Stephen A Johnson, Andrew F Ducruet, Jonathan B Bellotte, Charles E Romero, Robert M Friedlander
BACKGROUND: Rotational vertebral artery occlusion is a rare syndrome characterized by vertebrobasilar insufficiency secondary to position-dependent occlusion of the vertebral artery. Most cases reported in the literature have been attributed to osteophytic compression, either from the occipital condyle or within the transverse foramen. However, vertebral artery dissection secondary to motion in the setting of anomalous anatomy has not been reported. CASE DESCRIPTION: To the authors' knowledge, rotational vertebral artery occlusion and dissection secondary to anomalous entrance into the transverse foramen have never been reported...
September 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28931788/severe-aortic-and-mitral-stenosis-secondary-to-slowly-progressive-hunter-syndrome-in-an-elderly-patient
#19
Yosuke Takahashi, Takashi Murakami, Hiromichi Fujii, Masanori Sakaguchi, Shinsuke Nishimura, Daisuke Yasumizu, Yoshito Sakon, Yuki Kubo, Masahiko Osawa, Toshihiko Shibata
No abstract text is available yet for this article.
September 21, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28931039/abnormalities-in-substance-p-neurokinin-1-receptor-binding-in-key-brainstem-nuclei-in-sudden-infant-death-syndrome-related-to-prematurity-and-sex
#20
Fiona M Bright, Robert Vink, Roger W Byard, Jhodie R Duncan, Henry F Krous, David S Paterson
Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia...
2017: PloS One
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