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Hyperostosis

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https://www.readbyqxmd.com/read/28516005/caffey-s-disease-sans-mandibular-and-clavicular-involvement-a-rare-case-report
#1
Sachin Khanduri, Gaurav Katyal, Aakshit Goyal, Shreshtha Jain, Tushar Sabharwal, Mriganki Chaudhary
Caffey's disease, also known as Infantile Cortical Hyperostosis, is a rare, self-limited, benign, inflammatory gene-related disorder of infants that causes bone changes, soft tissue swelling, and irritability. The mandible (75%), clavicles, and ulnae are the bones most frequently involved, others being long bones, lateral ribs, ilia with skull being the rarest. However, we report a case of a 5-month-old male diagnosed with Infantile cortical hyperostosis but with absent mandibular and clavicular involvement, thus depicting the unusual presentation of this disease...
April 16, 2017: Curēus
https://www.readbyqxmd.com/read/28503629/hyperostosis-frontalis-interna-in-a-child-with-severe-traumatic-brain-injury
#2
Yaxiong Li, Xin Wang, Yan Li
Hyperostosis frontalis interna is an unexplained irregular thickening of the inner table of the frontal bone. Hyperostosis frontalis interna was first identified in 1719 by Morgagni as a symptom of a more generalized syndrome characterized by virilism and obesity. Most current studies have shown hyperostosis frontalis interna to be a sex- and age-dependent phenomenon, and females manifest a significantly higher prevalence of hyperostosis frontalis interna than males. In this article, the authors report the clinical case of hyperostosis frontalis interna in a 7-year-old child who had severe traumatic brain injury in the past; review the related literature; and discuss the clinical, radiological, and therapeutic features of this condition...
January 2017: Child Neurol Open
https://www.readbyqxmd.com/read/28500364/radiologists-need-to-be-aware-of-secondary-central-venous-stenosis-in-patients-with-sapho-syndrome
#3
Mizuho Suzuki, Hidenori Kanazawa, Takeshi Shinozaki, Hideharu Sugimoto
OBJECTIVES: We aimed to define central venous stenosis (CVS) caused by sternocostoclavicular hyperostosis as a feature of synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome on routine contrast-enhanced computed tomography (CT) images. The relationship between SAPHO syndrome and CVS without venous thrombosis caused by anterior chest wall compression has not been investigated. Therefore, the present study evaluated CVS in patients with SAPHO syndrome at our hospital. METHODS: We retrospectively reviewed contrast-enhanced CT images of ten patients with suspected or diagnosed SAPHO syndrome between January 2007 and November 2015...
May 12, 2017: European Radiology
https://www.readbyqxmd.com/read/28490407/the-application-of-a-free-nasal-floor-mucoperiosteal-graft-in-endoscopic-sinus-surgery
#4
Anali Dadgostar, Christopher Okpaleke, Fahad Al-Asousi, Amin Javer
BACKGROUND: Numerous reconstructive techniques and materials have been reported for repair of skull base defects, cerebrospinal fluid (CSF) leaks, and coverage of denuded bone, including pedicled vascularized flaps and free mucosal grafts. OBJECTIVE: This study described our technique of harvesting and transferring a free nasal floor mucoperiosteal graft and discussed our experience with the application of this technique. METHODS: A retrospective review of 19 patients (mean age, 53...
May 1, 2017: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/28477420/the-lrp4-r1170q-homozygous-knock-in-mouse-recapitulates-the-bone-phenotype-of-sclerosteosis-in-humans
#5
Eveline Boudin, Timur Yorgan, Igor Fijalkowski, Stephan Sonntag, Ellen Steenackers, Gretl Hendrickx, Silke Peeters, Annelies De Maré, Benjamin Vervaet, Anja Verhulst, Geert Mortier, Patrick D'Haese, Thorsten Schinke, Wim Van Hul
Sclerosteosis is a rare autosomal recessive bone disorder marked by hyperostosis of the skull and tubular bones. Initially, we and others reported that sclerosteosis was caused by loss-of-function mutations in SOST, encoding sclerostin. More recently, we identified disease causing mutations in LRP4, a binding partner of sclerostin, in three Sclerosteosis patients. Upon binding to sclerostin, LRP4 can inhibit the canonical WNT signaling which is known to be an important pathway in the regulation of bone formation...
May 6, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28469926/primary-hypertrophic-osteoarthropathy-due-to-a-novel-slco2a1-mutation-masquerading-as-acromegaly
#6
Ruth Mangupli, Adrian F Daly, Elvia Cuauro, Paul Camperos, Jaime Krivoy, Albert Beckers
SUMMARY: A 20-year-old man with an 8-year history of progressive enlargement of his hands and feet, coarsening facial features, painful joints and thickened, oily skin was referred for investigation of acromegaly. On examination, the subject was of normal height and weight. He had markedly increased skin thickness around the forehead, eyelids and scalp with redundant skin folds. Bilateral painful knee swelling was accompanied by enlargement of the extremities, and his fingers were markedly clubbed...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28469489/sternocostoclavicular-hyperostosis-an-insufficiently-recognized-clinical-entity
#7
Taro Sugase, Tetsu Akimoto, Hidenori Kanazawa, Atsushi Kotoda, Daisuke Nagata
A 79-year-old male chronic hemodialysis patient with no history of central venous catheterization was referred to our hospital with progressive swelling of the left upper limb ipsilateral to a forearm arteriovenous fistula. Radiological assessments revealed marked hyperostosis in the ribs, sternum, and clavicles with well-developed ossification of the sternocostoclavicular ligaments. Such characteristic structural abnormalities and our failure to identify the left subclavian vein with contrast material despite the abundant dilated collaterals in the left shoulder area encouraged us to diagnose our patient with sternocostoclavicular hyperostosis (SCCH) complicated by central vein obstruction...
2017: Clinical Medicine Insights. Arthritis and Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28458848/delayed-leg-paraplegia-associated-with-hyperextension-injury-in-patients-with-diffuse-idiopathic-skeletal-hyperostosis-dish-case-report-and-review-of-the-literature
#8
Tatsuya Yamamoto, Yoshiomi Kobayashi, Yoji Ogura, Yohei Takahashi, Yoshio Shinozaki, Jun Ogawa
Diffuse idiopathic skeletal hyperostosis (DISH) is characterized by calcifications and ossification of ligaments and tendon insertions. The patients with DISH are susceptible to spinal column injury with trivial trauma due to immobilization of vertebrae and this easily leads to spinal cord injury. However, only few reports on hyperextension injuries of the thoracolumbar spine with DISH exist. Here we report three cases of those who developed delayed leg paraplegia after hyperextension injuries of the thoracolumbar spine with DISH...
March 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28449239/the-role-of-the-nuclear-envelope-protein-man1-in-mesenchymal-stem-cell-differentiation
#9
Sandra Bermeo, Ahmed Al-Saedi, Moustapha Kassem, Christopher Vidal, Gustavo Duque
Mutations in MAN1, a protein of the nuclear envelope, cause bone phenotypes characterized by hyperostosis. The mechanism of this pro-osteogenic phenotype remains unknown. We increased and decreased MAN1 expression in mesenchymal stem cells (MSC) upon which standard osteogenic and adipogenic differentiation were performed. MAN1 knockdown increased osteogenesis and mineralization. In contrast, osteogenesis remained stable upon MAN1 overexpression. Regarding a mechanism, we found that low levels of MAN1 facilitated the nuclear accumulation of regulatory smads and smads-related complexes, with a concurrently high expression of nuclear β-Catenin...
April 27, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28434888/melorheostosis-exome-sequencing-of-an-associated-dermatosis-implicates-postzygotic-mosaicism-of-mutated-kras
#10
Michael P Whyte, Malachi Griffith, Lee Trani, Steven Mumm, Gary S Gottesman, William H McAlister, Kilannin Krysiak, Robert Lesurf, Zachary L Skidmore, Katie M Campbell, Ilana S Rosman, Susan Bayliss, Vinieth N Bijanki, Angela Nenninger, Brian A Van Tine, Obi L Griffith, Elaine R Mardis
Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3...
April 21, 2017: Bone
https://www.readbyqxmd.com/read/28431581/sacroiliitis-mimics-a-case-report-and-review-of-the-literature
#11
Maria J Antonelli, Marina Magrey
BACKGROUND: Radiographic sacroiliitis is the hallmark of ankylosing spondylitis (AS), and detection of acute sacroiliitis is pivotal for early diagnosis of AS. Although radiographic sacroiliitis is a distinguishing feature of AS, sacroiliitis can be seen in a variety of other disease entities. CASE PRESENTATION: We present an interesting case of sacroiliitis in a patient with Paget disease; the patient presented with inflammatory back pain which was treated with bisphosphonate...
April 22, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28412700/takayasu-arteritis-and-spondyloarthritis-coincidence-or-association-a-study-of-14-cases
#12
Elodie Rivière, Laurent Arnaud, Mikael Ebbo, Yannick Allanore, Pascal Claudepierre, Emmanuelle Dernis, Jean-Marc Ziza, Corinne Miceli-Richard, Peggy Philippe, Christophe Richez, Martin Soubrier, Rakiba Belkhir, Raphaèle Seror, Xavier Mariette, Stephan Pavy
OBJECTIVE: Spondyloarthritis (SpA) and Takayasu arteritis (TA) are 2 chronic inflammatory diseases; their coexistence in a single patient is uncommon. The aims of our study were to describe clinical features of patients having SpA associated with TA and to identify some characteristics of the types of patients with SpA associated with TA. We also analyzed treatments used in this context. METHODS: This French multicenter retrospective survey called for observations on behalf of the Club Rhumatismes et Inflammations, with a standardized questionnaire established by the investigators...
April 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28406001/disabling-osteopetrosis-in-an-young-lady
#13
Gouranga Santra, Shinjan Patra, Partha Pratim Chakraborty
Osteopetrosis is a rare disorder of osteoclastic bone resorption leading to hyperostosis. Albers-Schonberg disease, an autosomal dominant variant of osteopetrosis occurs in young adults and has a benign course. A 17 year old female presented with generalized weakness and pallor for last two months. She had insidious onset and gradually progressive loss of vision and hearing for last two years. Plain x-ray of skull revealed increased radio-opacity of skull bones specially in the base, severe under-pneumatization of frontal and sphenoidal sinuses...
December 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/28403046/bacterial-osteomyelitis-or-nonbacterial-osteitis-in-children-a-study-involving-the-german-surveillance-unit-for-rare-diseases-in-childhood
#14
MULTICENTER STUDY
Veit Grote, Colen C G Silier, Agnes M Voit, Annette F Jansson
BACKGROUND: Although bacterial osteomyelitis (BO) is a commonly recognized diagnosis in pediatrics, it is often difficult to distinguish from nonbacterial osteitis (NBO). The goal of our study was to distinguish between the 2 disease entities and better define NBO. METHODS: Using the German Surveillance Unit for Rare Diseases in Childhood (Erhebungseinheit für Seltene Paediatrische Erkrankungen in Deutschland), this prospective study during a 5-year period captured 657 patients at first diagnosis of either BO (n = 378) or NBO (n = 279) while analyzing epidemiologic, clinical and radiologic data...
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28385821/diffuse-idiopathic-skeletal-hyperostosis-with-cervical-myelopathy
#15
Aria Nouri, Michael G Fehlings
No abstract text is available yet for this article.
March 13, 2017: CMAJ: Canadian Medical Association Journal, Journal de L'Association Medicale Canadienne
https://www.readbyqxmd.com/read/28371859/classification-criteria-for-diffuse-idiopathic-skeletal-hyperostosis-a-lack-of-consensus
#16
Jonneke S Kuperus, Erin E A de Gendt, F Cumhur Oner, Pim A de Jong, Stan C F M Buckens, Alie E van der Merwe, George J R Maat, Elizabeth A Regan, Donald L Resnick, Reuven Mader, Jorrit-Jan Verlaan
Objectives.: DISH is a condition characterized by flowing ossifications of the spine with or without ossifications of entheses elsewhere in the body. Studies on the prevalence and pathogenesis of DISH use a variety of partly overlapping combinations of classification criteria, making meaningful comparisons across the literature difficult. The aim of this study was to systematically summarize the available criteria to support the development of a more uniform set of diagnostic/classification criteria...
March 27, 2017: Rheumatology
https://www.readbyqxmd.com/read/28371491/imaging-findings-suggestive-of-axial-spondyloarthritis-in-diffuse-idiopathic-skeletal-hyperostosis
#17
Augustin Latourte, Stéphane Charlon, Adrien Etcheto, Antoine Feydy, Yannick Allanore, Maxime Dougados, Anna Molto
OBJECTIVE: 1) To describe the MRI findings in diffuse idiopathic skeletal hyperostosis (DISH) patients and 2) to assess the proportion of DISH patients whose MRI findings would fulfill the Assessment of SpondyloArthritis international Society (ASAS) criteria for a positive MRI of axial spondyloarthritis (axSpA). METHODS: This study involved all DISH patients who had a spine or sacroiliac joints (SIJ) MRI performed between January 2009 and December 2014. Sociodemographical and clinical data were collected...
March 28, 2017: Arthritis Care & Research
https://www.readbyqxmd.com/read/28369706/diffuse-idiopathic-skeletal-hyperostosis-dish-and-impaired-physical-function-the-rancho-bernardo-study
#18
Wendy B Katzman, Mei-Hua Huang, Donna Kritz-Silverstein, Elizabeth Barrett-Connor, Deborah M Kado
OBJECTIVES: Investigate associations of diffuse idiopathic skeletal hyperostosis (DISH) with self-reported and measured physical function in older adults. DESIGN: Cross-sectional analyses of data collected in 1992-96 from a longitudinal cohort. SETTING: Research clinic within a community. PARTICIPANTS: Community-dwelling men (n = 630) and women (n = 961), mean age 71.5 years (SD = 10.8), from the Rancho Bernardo Study...
March 29, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28364275/magnetic-resonance-imaging-in-diffuse-idiopathic-skeletal-hyperostosis-similarities-to-axial-spondyloarthritis
#19
Uri Arad, Ori Elkayam, Iris Eshed
Diffuse idiopathic skeletal hyperostosis (DISH) is a non-inflammatory condition that involves calcification and ossification of the spinal ligaments and entheses. While, characteristic magnetic resonance imaging (MRI) lesions of the spine in patients with axial spondyloarthritis, another enthesitis-related disease, have been described and defined, there is a paucity of information regarding the MRI findings in DISH. The aim of this study was to describe the MRI findings of patients with DISH. We collected computed tomography studies with findings characteristic of DISH and that also had corresponding and concurrent MRI studies of the spine...
March 31, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28363281/thoracic-spondylolisthesis-and-spinal-cord-compression-in-diffuse-idiopathic-skeletal-hyperostosis-a-case-report
#20
Yasutaka Takagi, Hiroshi Yamada, Hidehumi Ebara, Hiroyuki Hayashi, Takeshi Iwanaga, Kengo Shimozaki, Yoshiyuki Kitano, Kenji Kagechika, Hiroyuki Tsuchiya
BACKGROUND: Diffuse idiopathic skeletal hyperostosis has long been regarded as a benign asymptomatic clinical entity with an innocuous clinical course. Neurological complications are rare in diffuse idiopathic skeletal hyperostosis. However, if they do occur, the consequences are often significant enough to warrant major neurosurgical intervention. Neurological complications occur when the pathological process of ossification in diffuse idiopathic skeletal hyperostosis extends to other vertebral ligaments, causing ossification of the posterior longitudinal ligaments and/or ossification of the ligamentum flavum...
April 1, 2017: Journal of Medical Case Reports
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