Read by QxMD icon Read

Joint hunter syndrome

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
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
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
Rouzbeh Motiei-Langroudi, Christoph J Griessenauer, Abdulrahman Alturki, Nimer Adeeb, Ajith J Thomas, Christopher S Ogilvy
BACKGROUND: Bow hunter's syndrome is a dynamic and reversible occlusion of the vertebral artery occurring after rotation or extension of the neck. The V3 segment is the most common site of compression, especially at the atlantoaxial joint. Surgical decompression with or without cervical fusion has been the mainstay of therapy. Endovascular intervention, such as placement of stents, is rarely performed. METHODS: We report a patient with bow hunter's syndrome from tortuosity of the V1 segment of the VA treated with a self-expanding biliary stent placement...
February 2017: World Neurosurgery
Vivian S Lee, Kensaku Kawamoto, Rachel Hess, Charlton Park, Jeffrey Young, Cheri Hunter, Steven Johnson, Sandi Gulbransen, Christopher E Pelt, Devin J Horton, Kencee K Graves, Tom H Greene, Yoshimi Anzai, Robert C Pendleton
IMPORTANCE: Transformation of US health care from volume to value requires meaningful quantification of costs and outcomes at the level of individual patients. OBJECTIVE: To measure the association of a value-driven outcomes tool that allocates costs of care and quality measures to individual patient encounters with cost reduction and health outcome optimization. DESIGN, SETTING, AND PARTICIPANTS: Uncontrolled, pre-post, longitudinal, observational study measuring quality and outcomes relative to cost from 2012 to 2016 at University of Utah Health Care...
September 13, 2016: JAMA: the Journal of the American Medical Association
Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu, Eva Kiss, Carmencita Lucia Denes, Paula Grigorescu-Sido
BACKGROUND: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested glycosaminoglycans (GAGs) in the lysosomes and induces multisystemic alteration (coarse facial features; skeletal dysplasia; hepatosplenomegaly; joint stiffness and contractures; heart, lung, vision, and hearing disability; profound neurological decline).The purpose of this study is to present the clinical and genetic characteristics of Romanian patients with Hunter syndrome and the genotype-phenotype correlation...
2017: JIMD Reports
S Tigchelaar, J de Rooy, G Hannink, S Koëter, A van Kampen, E Bongers
AIM: Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations. PATIENTS AND METHODS: Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification...
April 2016: Bone & Joint Journal
Dhanya Lakshmi Narayanan, Priyanka Srivastava, Kausik Mandal, Poonam Singh Gambhir, Shubha R Phadke
OBJECTIVE: To study the clinical profile and mutation spectrum of Hunter syndrome. METHODS: Evaluation of 18 cases of Hunter syndrome from 17 families was done. Mutation analysis of Iduronate sulfatase (IDS) gene was done in 9 families, and mothers of four affected children with no family history. RESULTS: Joint contracture, hepatomegaly and radiological changes were present in all children. 6 (33%) children had normal cognitive function at presentation...
February 2016: Indian Pediatrics
S B Roberts, R Dryden, A I Tsirikos
AIMS: Clinical and radiological data were reviewed for all patients with mucopolysaccharidoses (MPS) with thoracolumbar kyphosis managed non-operatively or operatively in our institution. METHODS: In all 16 patients were included (eight female: eight male; 50% male), of whom nine had Hurler, five Morquio and two Hunter syndrome. Six patients were treated non-operatively (mean age at presentation of 6.3 years; 0.4 to 12.9); mean kyphotic progression +1.5(o)/year; mean follow-up of 3...
February 2016: Bone & Joint Journal
Ioana Nascu, Paula Grigorescu-Sido, Camelia Al-Khzouz, Simona Bucerzan, Carmencita Denes, Cecilia Lazea
INTRODUCTION: Mucopolysaccharidosis type II (MPS type II, Hunter syndrome) is a rare (~ 1/1500.000), X-linked inherited disorder (affects boys) due to deficiency of the lysosomal enzyme iduronate sulfatase (Xq.28). The complex clinical picture includes osteoarthropathy with a tendency to flexion stiffness and disability. In our country, the specific diagnosis and enzyme replacement therapy (ERT), are recently available in the Center for Genetic Pathology Cluj. OBJECTIVES: Assessment of clinical features, radiological and imaging of osteoarthropathy in MPS type II and their evolution under ERT...
2013: Clujul Medical (1957)
Monica Martinez-Garcia, Eva Garcia-Canto, Maria Fenollar-Cortes, Antonio Perez Aytes, María José Trujillo-Tiebas
Acromesomelic dysplasia, Grebe type is a very rare skeletal dysplasia characterized by severe dwarfism with marked micromelia and deformation of the upper and lower limbs, with a proximodistal gradient of severity. CDMP1 gene mutations have been associated with Grebe syndrome, Hunter-Thompson syndrome, Du Pan syndrome and brachydactyly type C. The proband is a 4-year-old boy, born of consanguineous Pakistani parents. Radiographic imaging revealed features typical of Grebe syndrome: severe shortening of the forearms with an acromesomelic pattern following a proximodistal gradient, with distal parts more severely affected than medial parts; hypoplastic hands, with the phalangeal zone more affected than the metacarpal zone; and severe hypoplastic tibial/femoral zones in both limbs...
September 2016: Journal of Bone and Mineral Metabolism
Ashish Gupta, Anusha Uttarilli, Ashwin Dalal, Katta M Girisha
Hunter syndrome is an X linked recessive mucopolysaccharidosis (type II) caused by the deficiency of iduronate 2-sulfatase. This in turn leads to the accumulation of glycosaminoglycans, dermatan and heparan sulfate. The intracellular and extracellular accumulation of these substances lead to multisystemic organ abnormality. It is a rare syndrome with a very low prevalence of 1.3:100,000 male live births. Usual presentation is in early childhood although milder variants have been documented to present at a later age...
May 14, 2015: BMJ Case Reports
Anna Tylki-Szymańska
Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males and rarely females, clinically divided into severe (2/3) and attenuated types. Children with severe form, diagnosed at 12-36 months, have coarse facial feature, short stature, joint stiffness, short neck, broad chest, large head circumference, watery diarrhea, skeletal changes, progressive and profound mental retardation, retinal degeneration' hearing loss, cardiomyopathy, valvular involvement, with progressive thickening and stiffening of the valve leaflets leading to mitral and aortic regurgitation and stenosis ...
September 2014: Pediatric Endocrinology Reviews: PER
Rosella Tomanin, Alessandra Zanetti, Francesca D'Avanzo, Angelica Rampazzo, Nicoletta Gasparotto, Rossella Parini, Antonia Pascarella, Daniela Concolino, Elena Procopio, Agata Fiumara, Andrea Borgo, Anna Chiara Frigo, Maurizio Scarpa
BACKGROUND: Hunter Syndrome is an X-linked lysosomal storage disorder due to the deficit of iduronate 2-sulfatase, an enzyme catalysing the degradation of the glycosaminoglycans (GAG) dermatan- and heparan-sulfate. Treatment of the disease is mainly performed by Enzyme Replacement Therapy (ERT) with idursulfase, in use since 2006. Clinical efficacy of ERT has been monitored mainly by the Hunter Outcome Survey (HOS) while very few independent studies have been so far conducted. The present study is a 3...
2014: Orphanet Journal of Rare Diseases
J F Uhl, C Gillot
BACKGROUND: The "Adductor canal syndrome" has been described as an unusual cause of acute arterial occlusion inside the Hunter's canal in young sportsmen. It may also produce a compressive neuropathy of the saphenous nerve. To our knowledge, femoral vein compression in the canal has never been reported. OBJECTIVE: To describe the anatomy, to propose a physiology of this canal, and to show that the femoral vein is much more exposed than the artery to compression inside this adductor hiatus, particularly at the outlet...
October 2015: Phlebology
Andrew T Healy, Bryan S Lee, Kevin Walsh, Mark D Bain, Ajit A Krishnaney
Bow hunter's syndrome is a condition in which vertebrobasilar insufficiency is resultant from head rotation, clinically manifested by presyncopal sensation, syncope, dizziness, and nausea. It is usually diagnosed clinically, with supporting vascular imaging demonstrating an occluded or at the very least compromised unilateral vertebral artery, while the dominant vertebral artery remains patent in the neutral position. Dynamic imaging is utilized to confirm the rotational compression of the dominant vertebral artery...
January 2015: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
R Annibali, L Caponi, A Morganti, M Manna, O Gabrielli, A Ficcadenti
AIM: Our study aim is the evaluation of long-term effects of hematopoietic stem cell transplantation on Italian patients with severe Hunter syndrome. METHODS: Four boys, suffering from Hunter syndrome, severe phenotype, received hematopoietic stem cell transplantation between 2 years 6 months and 2 years 11 months of age, from 1992 to 2001. A complete multidisciplinary evaluation of hematopoietic stem cell transplantation long-term effects was performed periodically...
October 2013: Minerva Pediatrica
S M Nikkel, L Huang, R Lachman, C L Beaulieu, J Schwartzentruber, J Majewski, M T Geraghty, K M Boycott
Whole-exome sequencing (WES) has proven its utility in finding novel genes associated with rare conditions and its usefulness is being further demonstrated in expanding the phenotypes of well known diseases. We present here a family with a previously undiagnosed X-linked condition characterized by progressive restriction of joint range of motion, prominence of the supraorbital ridge, audiology issues and hernias. They had an average stature, normal occipitofrontal circumference and intelligence, absence of dysostosis multiplex and otherwise good health...
August 2014: Clinical Genetics
Patricia E Mascarelli, Ricardo G Maggi, Sarah Hopkins, B Robert Mozayeni, Chelsea L Trull, Julie M Bradley, Barbara C Hegarty, Edward B Breitschwerdt
BACKGROUND: Bartonella species comprise a group of zoonotic pathogens that are usually acquired by vector transmission or by animal bites or scratches. METHODS: PCR targeting the Bartonella 16S-23S intergenic spacer (ITS) region was used in conjunction with BAPGM (Bartonella alpha Proteobacteria growth medium) enrichment blood culture to determine the infection status of the family members and to amplify DNA from spiders and woodlice. Antibody titers to B. vinsonii subsp...
April 15, 2013: Parasites & Vectors
Young Bae Sohn, Sung Yoon Cho, Sung Won Park, Su Jin Kim, Ah-Ra Ko, Eun-Kyung Kwon, Sun Ju Han, Dong-Kyu Jin
BACKGROUND: Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare X-linked lysosomal storage disorder caused by the deficiency of iduronate-2-sulfatase (IDS). In affected patients, glycosaminoglycan (GAG) accumulates in the lysosomes of many organs and tissues contributing to the pathology associated with MPS II. The objective of this phase I/II clinical study was to evaluate the efficacy and safety of recombinant human iduronate-2-sulfatase (idursulfase beta, Hunterase®) in the treatment of MPS II...
March 18, 2013: Orphanet Journal of Rare Diseases
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"