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https://www.readbyqxmd.com/read/28725947/clinical-heterogeneity-of-sapho-syndrome-challenging-diagnose-and-treatment
#1
REVIEW
Francesco Cianci, Angelo Zoli, Elisa Gremese, Gianfranco Ferraccioli
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare disease which is often misdiagnosed and under-recognized, because of its peculiar and heterogeneous clinical presentation. Its main features consist of cutaneous and osteoarticular manifestations, the latter affecting more often the anterior chest wall and having typical radiologic findings. There are no validated diagnostic criteria for SAPHO and no guidelines for treatment, due mainly to its rarity; as a consequence, therapy is empirical and aimed to control pain and modifying inflammatory process...
July 19, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28724827/angioid-streaks-in-a-case-of-camurati-engelmann-disease
#2
Bet L Tugcu, Taha Sezer, Ahmet Elbay, Hakan Özdemir
Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. The hallmark of the disease is bilateral symmetric diaphyseal hyperostosis of the long bones with progressive involvement of the metaphysis. Ocular manifestations occur rarely and mainly result from bony overgrowth of the orbit and optic canal stenosis. We report a case of CED showing angioid streaks (ASs) in both fundi with no macular involvement and discuss the possible theories of the pathogenesis of AS in this disease...
July 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28722237/bone-involvement-histopathological-evidence-for-endoscopic-management-of-sinonasal-inverted-papilloma
#3
Na Liang, Zhenxiao Huang, Honggang Liu, Junfang Xian, Qian Huang, Bing Zhou
OBJECTIVE: The aim of this study is to provide histopathological evidence for a better understanding of the excision of bone underlying tumor. STUDY DESIGN: Retrospective study. METHODS: Thirty patients with histopathological diagnosis of sinonasal inverted papilloma (SIP) were enrolled. All patients underwent preoperative radiography to define the tumor location. The primary tumor and underlying bone, removed during endoscopic surgery, were examined under microscope...
July 19, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28721001/diffuse-idiopathic-skeletal-hyperostosis-dish-a-common-but-less-known-cause-of-back-pain
#4
REVIEW
Raju Vaishya, Vipul Vijay, Ifeanyi Charles Nwagbara, Amit K Agarwal
Diffuse idiopathic skeletal hyperostosis (DISH) is a systemic non-inflammatory disease of an unknown aetiology. It is characterized by ossification of the enthesis and may significantly affect the quality of life of the affected individuals. Despite the fact that this disease was first described more than 60 years ago and is a relatively common condition in the society, its awareness among clinician is still limited. An awareness of this entity and its mimicking conditions is essential so as to reach to an early diagnosis and avoid unnecessary investigations and treatment...
April 2017: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28706789/craniometaphyseal-dysplasia-a-review-and-novel-oral-manifestation
#5
K Martin, S Nathwani, R Bunyan
Craniometaphyseal Dysplasia (CMD) is a sclerosing osseous dysplasia characterised by hyperostosis of craniofacial and long bones, resulting in distortion and cranial nerve palsies. We present a case report on the management of a 63 year old female with Craniometaphyseal Dysplasia. This report describes an additional clinical manifestation of hypercementosis, which although well recognised in other sclerosing osseous dysplasias, is not reported in the literature for Craniometaphyseal Dysplasia. We discuss established in vivo studies in mice which link the genetic mutations found in Craniometaphyseal Dysplasia to hypercementosis, and how this report describes the same manifestation in humans...
May 2017: Journal of Oral Biology and Craniofacial Research
https://www.readbyqxmd.com/read/28698424/-aortic-valve-replacement-via-a-partial-sternotomy-in-an-ankylosing-skeletal-hyperostosis-patient-after-prophylactic-tracheostomy-report-of-a-case
#6
Shogo Saito, Yoshio Misawa, Soki Kurumisawa, Kei Aizawa, Koji Kawahito
A 77-year-old man presented with exertional dyspnea. The patient had a history of ankylosing skeletal hyperostosis and sleep apnea syndrome. Echocardiographic examination revealed severe aortic valve regurgitation. The patient underwent a prophylactic tracheostomy 2 weeks before cardiac surgery to decrease his risk of perioperative respiratory failure. He successfully underwent aortic valve replacement through a lower partial sternotomy. His postoperative course was uneventful, and the tracheostoma was closed 6 months after the cardiac surgery...
July 2017: Kyobu Geka. the Japanese Journal of Thoracic Surgery
https://www.readbyqxmd.com/read/28689601/imaging-features-of-intracranial-psammomatous-meningioma
#7
L Liu, Y Lu, W Peng, D Geng, J Wen, J Xiong, L Zou, B Yin
PURPOSE: This study was conducted to describe the imaging features of intracranial psammomatous meningioma (IPM). MATERIALS AND METHODS: Twenty-three patients with a histopathological diagnosis of IPM between January 2007 and August 2016 were retrospectively reviewed. Twenty-two patients underwent contrast-enhanced MRI scanning, and 16 underwent non-enhanced CT. RESULTS: A total of 23 adult patients (3 men, 20 women; mean age, 55.3±7.0 years) with 30 IPMs, including 3 patients with multiple IPMs, were recruited...
July 6, 2017: Journal of Neuroradiology. Journal de Neuroradiologie
https://www.readbyqxmd.com/read/28680006/vertebral-fracture-at-the-caudal-end-of-a-surgical-fusion-for-thoracic-vertebral-fracture-in-a-patient-with-diffuse-idiopathic-skeletal-hyperostosis-dish
#8
Hiroshi Kobayashi, Koji Otani, Kazuyuki Watanabe, Kinshi Kato, Takuya Nikaido, Shoji Yabuki, Shin-Ichi Kikuchi, Shin-Ichi Konno
The patient was an 86-year-old woman with back pain after a fall. She had no neurological findings at the initial visit. Plain radiographs and magnetic resonance imaging (MRI) showed diffuse idiopathic skeletal hyperostosis (DISH) and a Th10 fracture. Two weeks later, she started gait exercise with immobilization by a rigid orthosis. Twenty-five days later, she presented with paralysis and numbness of her legs. Computed tomography (CT) showed anterior expansion in the vertebral body of Th10. MRI showed an intramedullary high-intensity area on T2-weighted images at the same level...
July 5, 2017: Fukushima Journal of Medical Science
https://www.readbyqxmd.com/read/28676986/incidental-findings-on-cerebral-mri-in-twins-the-older-australian-twins-study
#9
Rebecca Koncz, Adith Mohan, Laughlin Dawes, Anbupalam Thalamuthu, Margaret Wright, David Ames, Teresa Lee, Julian Trollor, Wei Wen, Perminder Sachdev
Incidental findings on structural cerebral magnetic resonance imaging (MRI) are common in healthy subjects, and the prevalence increases with age. There is a paucity of data regarding incidental cerebral findings in twins. We examined brain MRI data acquired from community-dwelling older twins to determine the prevalence and concordance of incidental cerebral findings, as well as the associated clinical implications. Participants (n = 400) were drawn from the Older Australian Twins Study. T1-weighted and T2-weighted fluid-attenuated inversion recovery (FLAIR) cerebral MRI scans were systematically reviewed by a trained, blinded clinician...
July 4, 2017: Brain Imaging and Behavior
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#10
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
July 4, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28634314/-a-case-of-moyamoya-disease-associated-with-sapho-syndrome
#11
Nobutaka Horie, Mayuko Baba, Ken Kawada, Yuuki Matsunaga, Eisaku Sadakata, Yoichi Morofuji, Tsuyoshi Izumo, Minoru Morikawa, Takeo Anda, Takayuki Matsuo
Moyamoya disease is a unique occlusive disease of the internal carotid artery(ICA)with moyamoya vessels that can lead to transient ischemic attacks and hemorrhagic stroke. When other inherited or acquired disorders and conditions occur in conjunction with moyamoya disease, the syndrome is known as quasi-moyamoya disease. We report the case of a 34-year-old woman with a past history of SAPHO(Synovitis-Acne-Pustulosis-Hyperostosis-Osteomyelitis)syndrome, who presented with arm weakness and headache. Magnetic resonance angiography revealed severe terminal stenosis of the left ICA with moyamoya vessels, and she was diagnosed as moyamoya disease associated with SAPHO syndrome...
June 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/28632647/high-osteogenic-potential-of-adipose-and-muscle-derived-mesenchymal-stem-cells-in-spinal-ossification-model-mice
#12
Xizhe Liu, Gentaro Kumagai, Kanichiro Wada, Toshihiro Tanaka, Toru Asari, Kazuki Oishi, Taku Fujita, Hiroki Mizukami, Ken-Ichi Furukawa, Yasuyuki Ishibashi
STUDY DESIGN: Basic experiments in a mouse model of ossification of the posterior longitudinal ligament (OPLL). OBJECTIVE: To assess the osteogenic potential of mesenchymal stem cells (MSCs) obtained from muscle and adipose tissue in Tiptoe-walking (ttw) mice, in which cervical OPLL compresses the spinal cord and causes motor and sensory dysfunction. SUMMARY OF BACKGROUND DATA: In humans, MSCs have been implicated in the pathogenesis of cervical OPLL...
June 19, 2017: Spine
https://www.readbyqxmd.com/read/28619674/frontal-cranioplasty-in-fronto-metaphyseal-dysplasia
#13
A Joly, A Pare, D Goga, B Laure
INTRODUCTION: Fronto-metaphyseal dysplasia (FMD), also called Gorlin-Cohen syndrome, is a rare syndrome initially described in 1969 by Gorlin and Cohen. Patients present skeletal dysplasia, craniofacial malformations and digit abnormalities. Craniofacial phenotype of FMD is characterized by supraorbital hyperostosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge and micrognathia. Here, we report the first adult case of craniofacial reconstruction with frontal cranioplasty in a patient with FMD...
June 12, 2017: Journal of Stomatology, Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28606599/clinical-and-imaging-mimickers-of-axial-spondyloarthritis
#14
REVIEW
Gleb Slobodin, Merav Lidar, Iris Eshed
The first step in the diagnosis of a patient with suspected axial spondyloarthritis is to differentiate the signs and symptoms of the disease from other disorders, potentially manifesting with similar clinical and imaging features. This review examines diffuse idiopathic skeletal hyperostosis, osteitis condensans ilii, and other developmental and metabolic disorders that may mimic axial spondyloarthritis, highlighting the diagnostic caveats and discussing shared and distinguishing aspects of these conditions in order to improve the clinician's ability to set them apart...
May 20, 2017: Seminars in Arthritis and Rheumatism
https://www.readbyqxmd.com/read/28594081/new-evidence-suggesting-a-dissociated-etiology-for-cribra-orbitalia-and-porotic-hyperostosis
#15
Frances Rivera, Marta Mirazón Lahr
OBJECTIVES: Porotic hyperostosis (PH), characterized by porotic lesions on the cranial vault, and cribra orbitalia (CO), a localized appearance of porotic lesions on the roof of the orbits, are relatively common osteological conditions. Their etiology has been the focus of several studies, and an association with anemia has long been suggested. Anemia often causes bone marrow hypertrophy or hyperplasia, leading to the expansion in trabecular or cranial diploic bone as a result of increased hematopoiesis...
June 8, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28579754/paradoxical-sapho-syndrome-observed-during-anti-tnf%C3%AE-therapy-for-crohn-s-disease
#16
Hitoshi Amano, Reikei Matsuda, Tomohiko Shibata, Daisuke Takahashi, Shinichiro Suzuki
Currently, anti-TNFα antibodies are used to treat Crohn's disease. We report on a 45-year-old Japanese female with Crohn's disease developing SAPHO (synovitis, acne, pustulosis, hyperostosis, and osteitis) syndrome following exposure to the anti-TNFα antibody adalimumab. Initially, adalimumab induced remission, but the patient showed SAPHO syndrome 11 weeks following the start of adalimumab therapy for the first time. Cutaneous and articular involvement were exacerbating the condition, so adalimumab was discontinued and the patient was put on low-dose methotrexate to control her symptoms...
2017: Biologics: Targets & Therapy
https://www.readbyqxmd.com/read/28560466/real-life-effectiveness-of-spa-therapy-in-rheumatic-and-musculoskeletal-diseases-a-retrospective-study-of-819-patients
#17
Mine Karagülle, Sinan Kardeş, Müfit Zeki Karagülle
The objective of this study is to determine the use and efficacy of spa therapy in patients with a wide spectrum of rheumatic and musculoskeletal diseases under real-life clinical practice circumstances. In this retrospective observational study at the Medical Ecology and Hydroclimatology Department of Istanbul Faculty of Medicine, the records of all adult patients with rheumatic and musculoskeletal diseases who were prescribed a spa therapy in various health resorts in Turkey between 2002 and 2012 were analyzed...
May 30, 2017: International Journal of Biometeorology
https://www.readbyqxmd.com/read/28545486/depression-in-patients-with-sapho-syndrome-and-its-relationship-with-brain-activity-and-connectivity
#18
Jie Lu, Yanping Duan, Zhentao Zuo, Wenrui Xu, Xuewei Zhang, Chen Li, Rong Xue, Hanzhang Lu, Weihong Zhang
BACKGROUND: Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome is a rare disease and there is no related literature concerning psychiatric symptoms in SAPHO patients. Thus, we believe that this will be the first paper to explore the episode and the neurobiological basis of depression symptoms in SAPHO patients using resting state functional magnetic resonance imaging (rs-fMRI). Twenty-eight SAPHO patients and fifteen age- and gender- matched normal controls (NC) were consecutively submitted to psychiatric evaluation and rs-fMRI scanning...
May 25, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28540118/spinal-cord-injury-in-the-geriatric-population-risk-factors-treatment-options-and-long-term-management
#19
REVIEW
Tochukwu C Ikpeze, Addisu Mesfin
Spinal cord injuries (SCIs) are sustained by more than 12 500 patients per year in the United States and more globally. The SCIs disproportionately affect the elderly, especially men. Approximately 60% of these injuries are sustained traumatically through falls, but nontraumatic causes including infections, tumors, and medication-related epidural bleeding have also been documented. Preexisting conditions such as ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis can render the spine stiff and are risk factors as well as cervical spondylosis and ensuing cervical stenosis...
June 2017: Geriatric Orthopaedic Surgery & Rehabilitation
https://www.readbyqxmd.com/read/28528871/diffuse-idiopathic-skeletal-hyperostosis-can-we-identify-a-peripheral-pattern
#20
Teresa Clavaguera, Patrícia Reyner, Ramón Valls, Eulàlia de Cendra, Mari Carmen Rodríguez-Jimeno
Diffuse idiopathic skeletal hyperostosis is a bone disease characterized by ossification of spinal ligaments and peripheral entheses. Currently, we still use the classic classification criteria that do not include extraspinal manifestations. A number of authors agree on the need to revise them. We present 3 patients in which a diagnosis of diffuse idiopathic skeletal hyperostosis could not be established if we apply those criteria, but they have fully compatible clinical and radiological manifestations of hyperostotic disease...
May 18, 2017: Reumatología Clinica
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