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https://www.readbyqxmd.com/read/28078366/genetic-screening-of-wnt4-and-wnt5b-in-two-populations-with-deviating-bone-mineral-densities
#1
Gretl Hendrickx, Eveline Boudin, Ellen Steenackers, Torben Leo Nielsen, Marianne Andersen, Kim Brixen, Wim Van Hul
A role for WNT4 and WNT5B in bone metabolism was indicated by genome-wide association studies (GWAS) and a Wnt4 knockout mouse model. The aim of this study was therefore to replicate and further investigate the causality between genetic variation in WNT4 and WNT5B and deviating bone mineral density (BMD) values. A WNT4 and WNT5B mutation screening was performed in patients with craniotubular hyperostosis using Sanger sequencing. Here, no putative causal mutations were detected. Moreover, a high and low BMD cohort was selected from the Odense Androgen Study population for re-sequencing...
January 12, 2017: Calcified Tissue International
https://www.readbyqxmd.com/read/28060551/scleritis-associated-with-sapho-syndrome-a-case-report
#2
Rie Tanaka, Keiichi Sakurai, Toshikatsu Kaburaki
A 31-year-old woman developed bilateral painful red eyes. A slit-lamp examination revealed anterior diffuse scleritis. She had been diagnosed with palmoplantar pustulosis 2 years before. Further evaluation revealed hyperostosis of the sacroiliac joint and inflammation of the bilateral sternoclavicular joints and right sternocostal joint. Ultimately, she was diagnosed with SAPHO syndrome by rheumatologists after excluding other causative diseases. Scleritis associated with SAPHO syndrome is relatively uncommon...
January 6, 2017: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/28027183/coincidence-of-eagle-syndrome-and-diffuse-idiopathic-skeletal-hyperostosis-presenting-with-dysphagia-as-a-result-of-compression-of-the-hypopharynx
#3
Vahit Mutlu, Hayri Ogul
Coincidence of the Eagle syndrome and diffuse idiopathic skeletal hyperostosis can very rarely result with compression of the hypopharynx. The authors here described a very rare case of hypopharyngeal airway compression secondary to cervical osteophytes in a patient with coincidence of Eagle syndrome and diffuse idiopathic skeletal hyperostosis. Multidetector computed tomography accuracy showed compression to the hypopharyngeal air column by the Eagle syndrome and diffuse idiopathic skeletal hyperostosis.
December 23, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28013194/is-diffuse-idiopathic-skeletal-hyperostosis-a-disease-or-a-syndrome-need-for-studies-on-angiogenesis-stimulating-activity
#4
EDITORIAL
Nicola Pappone, Pasquale Ambrosino, Matteo Nicola Dario Di Minno, Salvatore Iervolino
No abstract text is available yet for this article.
December 24, 2016: Rheumatology
https://www.readbyqxmd.com/read/27993538/sapho-syndrome-in-childhood-a-case-report
#5
Manuel Vargas Pérez, Belén Sevilla Pérez
The acronym of SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) combines a cluster of cutaneous and musculoskeletal manifestations, such as hyperostosis of bones of the anterior chest wall associated with acne fulminans and hidradenitis suppurativa. There are no validated diagnostic criteria in children. Nonsteroidal anti-inflammatory drugs are not always sufficient, and the use of corticosteroids, disease-modifying agents, tumor necrosis factor-α inhibitors or bisphosphonates may be necessary...
December 16, 2016: Reumatología Clinica
https://www.readbyqxmd.com/read/27957370/refractory-obstructive-sleep-apnea-in-a-patient-with-diffuse-idiopathic-skeletal-hyperostosis
#6
Ara Darakjian, Ani B Darakjian, Edward T Chang, Macario Camacho
Diffuse Idiopathic Skeletal Hyperostosis (DISH) can cause ossification of ligaments and may affect the spine. We report a case of obstructive sleep apnea in a patient with significant upper airway narrowing secondary to cervical DISH. This patient had an initial apnea-hypopnea index (AHI) of 145 events/hour and was treated with uvulopalatopharyngoplasty, genial tubercle advancement, hyoid suspension, septoplasty, inferior turbinoplasties, and radiofrequency ablations to the tongue base which reduced his AHI to 40 events/hour...
2016: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/27936930/different-contributions-of-cdkal1-kif21b-and-lrrk2-muc19-polymorphisms-to-sapho-syndrome-rheumatoid-arthritis-ankylosing-spondylitis-and-seronegative-spondyloarthropathy
#7
Nan Li, Junfen Ma, Kai Li, Changlong Guo, Liang Ming
OBJECTIVES: Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, rheumatoid arthritis (RA), ankylosing spondylitis (AS), and seronegative spondyloarthropathy (SPA) are autoimmune diseases of unknown etiology, which share some clinical manifestations in common. Previous family-based investigations support genetic contributions to the susceptibility of these diseases. The current study evaluated whether three previously reported AS-associated single-nucleotide polymorphisms (SNPs), rs6908425 T>C in CDKAL1, rs11584383 T>C near KIF21B, and rs11175593 C>T near LRRK2/MUC19, have any genetic overlap across multiple autoimmune diseases including SAPHO syndrome, RA, AS, and SPA...
December 12, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27920816/concomitant-extraspinal-hyperostosis-and-osteoporosis-in-a-patient-with-congenital-ichthyosis
#8
Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark
Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27901271/hyperostosis-frontalis-interna-in-female-historic-skeletal-populations-age-sex-hormones-and-the-impact-of-industrialization
#9
A G Western, J J Bekvalac
OBJECTIVES: This analysis aims to investigate the impact of industrialization on the prevalence of Hyperostosis Frontalis Interna (HFI), focusing on the roles of age and parity to examine the claim that longevity and changing reproductive patterns have led to increased rates in modern populations. MATERIALS AND METHODS: A total of 138 individuals from two documented London skeletal assemblages of the Industrial period were analyzed employing macroscopic observation, digital radiography and MicroCT scanning to establish the prevalence rates of HFI according to modern clinical standards...
November 30, 2016: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/27891363/giant-cervical-osteophyte-an-unusual-cause-of-dysphagia
#10
Sudhir Kumar Srivastava, Sunil Krishna Bhosale, Tanvi Anoop Lohiya, Rishi Anil Aggarwal
Dysphagia due to skeletal causes is a rare entity. A large cervical osteophyte can cause mechanical compression of the pharyngo-oesophageal segment leading to dysphagia. Large cervical osteophytes can occur in cervical spondylosis, ankylosing spondylitis or Diffuse Idiopathic Skeletal Hyperostosis (DISH). A 60-year-old female came with progressive dysphagia due to a giant cervical osteophyte anterior to C4 and C5 vertebral bodies causing compression of the pharyngo-oesophageal segment. The patient was treated by surgical excision of the osteophyte by orthopaedic surgeons...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27884418/heterotopic-ossification-prophylaxis-after-total-hip-arthroplasty-randomized-trial-of-400-vs-700-cgy
#11
Jane Z Liu, Nicholas B Frisch, Regina M Barden, Aaron G Rosenberg, Craig D Silverton, Jorge O Galante
BACKGROUND: Heterotopic ossification (HO) is a known complication following total hip arthroplasty. Radiation is an effective prophylaxis, but an optimal protocol has yet to be determined. We performed a randomized, double-blinded clinical trial in high-risk patients to determine the efficacy of 400 vs 700 cGy doses of radiation. METHODS: One hundred forty-seven patients undergoing total hip arthroplasty and at high risk for HO at an urban medical center were randomized to receive either a single 400 or 700 cGy dose of radiation postoperatively...
November 1, 2016: Journal of Arthroplasty
https://www.readbyqxmd.com/read/27857853/entrapment-of-the-sciatic-nerve-at-the-linea-aspera-a-case-report-and-literature-review
#12
Giovanni Monteleone, Giorgio Stevanato
BACKGROUND: Nontraumatic, non-neoplastic sciatic nerve entrapment at the level of the thigh is extremely rare. In its course, in proximity of the linea aspera, the nerve is exposed to unexpected neuropathic syndromes associated with bone disorders. CASE DESCRIPTION: A 67-year-old woman presented with a painful, neuropathic syndrome of the sciatic nerve, not resulting from any trauma and persisting for approximately 2 years. Imaging studies of the thigh showed a delimited zone of hyperostosis in the proximal third of the femoral diaphysis...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27846749/synovitis-of-sternoclavicular-and-peripheral-joints-can-be-detected-by-ultrasound-in-patients-with-sapho-syndrome
#13
Masataka Umeda, Shin-Ya Kawashiri, Ayako Nishino, Tomohiro Koga, Kunihiro Ichinose, Toru Michitsuji, Toshimasa Shimizu, Shoichi Fukui, Yoshikazu Nakashima, Yasuko Hirai, Naoki Iwamoto, Toshiyuki Aramaki, Mami Tamai, Hideki Nakamura, Tomoki Origuchi, Yukitaka Ueki, Atsushi Kawakami
OBJECTIVES: To determine the prevalence of ultrasonographic abnormalities of sternoclavicular joints (SCJ) and peripheral joints (PJ) in patients with synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) syndrome. METHODS: Thirteen patients with SAPHO syndrome who fulfilled diagnostic criteria proposed by Kahn for SAPHO syndrome 2003 and 13 healthy individuals age- and sex-matched were enrolled. Synovitis, defined by synovial hypertrophy with power Doppler (PD) signals, of the SCJ and the PJ including wrist, MCP, PIP, and the other symptomatic joints were evaluated by ultrasound (US)...
December 9, 2016: Modern Rheumatology
https://www.readbyqxmd.com/read/27785852/severe-osteoarticular-involvement-in-isotretinoin-triggered-acne-fulminans-two-cases-successfully-treated-with-anakinra
#14
T Oranges, A Insalaco, A Diociaiuti, C Carnevale, R Strippoli, G Zambruno, P Tomà, M El Hachem
Acne fulminans (AF) is a severe form of inflammatory and ulcerated acne associated with fever, malaise, joint swellings and polyarthralgia(1) . Osteoarticular lesions are often described and can be radiologically indistinguishable from those observed in synovitis - acne - pustulosis - hyperostosis and osteitis (SAPHO) syndrome(2,3) . SAPHO is an autoinflammatory disease characterized by osteoarticular and cutaneous manifestations, the latter including nodular and fulminans acne, hidroadenitis suppurativa, and palmo-plantar pustolosis(3) ...
October 27, 2016: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/27749216/on-the-history-of-gout-paleopathological-evidences-from-the-medici-family-of-florence
#15
Valentina Giuffra, Simona Minozzi, Angelica Vitiello, Antonio Fornaciari
OBJECTIVES: Throughout history, gout has been referred to as the "disease of the kings", and has been clearly associated with the lifestyle of the aristocratic social classes. According to the written sources, several members of the famous Medici family of Florence suffered from an arthritic disease that contemporary physicians called "gout". A paleopathological study carried out on the skeletal remains of some members of the family, exhumed from their tombs in the Church of San Lorenzo in Florence, offered a unique opportunity to directly investigate the evidence of the arthritic diseases affecting this elite group...
September 7, 2016: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/27742022/imaging-for-synovitis-acne-pustulosis-hyperostosis-and-osteitis-sapho-syndrome
#16
Steven Schaub, Hartley M Sirkis, Jonathan Kay
Multifocal osteomyelitis and synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome constitute a spectrum of disease that includes inflammatory bone lesions and dermatologic findings. Radiographic features resemble those of the spondyloarthropathies with anterior chest wall involvement. Early radiographic findings are osteodestructive with lytic lesions. Bone scintigraphy of the sternoclavicular region classically yields a 'bull's head' pattern of radionuclide uptake. Magnetic resonance imaging (MRI) can demonstrate corner lesions of vertebral bodies...
November 2016: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/27730289/unexpectedly-high-incidences-of-chronic-non-bacterial-as-compared-to-bacterial-osteomyelitis-in-children
#17
A Schnabel, U Range, G Hahn, T Siepmann, R Berner, C M Hedrich
Historically, osteomyelitis was considered an infectious disorder. More recently, inflammatory mechanisms were recognized causing a significant proportion of pediatric osteomyelitis. This study was to compare characteristics of children with chronic non-bacterial (CNO) and bacterial osteomyelitis (BOM). A chart review of osteomyelitis patients from the departments of pediatrics, pediatric surgery, orthopedic surgery, and oral and maxillofacial surgery was conducted in a tertiary referral center, covering the years 2004-2014...
October 11, 2016: Rheumatology International
https://www.readbyqxmd.com/read/27730042/sapho-syndrome-with-acne-fulminans-and-severe-polyosteitis-involving-axial-skeleton
#18
B Lakshmi Divya, P Narasimha Rao
SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis, osteitis), a rare inflammatory disorder, is an association of distinct skin disorders with pustules with osteoarticular inflammation. Its etiology remains unclear, and various treatment regimens frequently fail to control the disease. An 18-year-old male patient presented to the outpatient department with severe nodulocystic acne on the face with pain at both the wrists and lower back associated with high-grade fever and chills. On physical examination, he had severe tenderness at both wrist joints and lower back, along with swelling of right wrist...
September 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27723250/cross-sectional-and-longitudinal-associations-of-diffuse-idiopathic-skeletal-hyperostosis-dish-and-thoracic-kyphosis-in-older-men-and-women
#19
Wendy B Katzman, Neeta Parimi, Ziba Mansoori, Lorenzo Nardo, Deborah M Kado, Peggy M Cawthon, Lynn M Marshall, John T Schousboe, Nancy E Lane
OBJECTIVE: Investigate cross-sectional and longitudinal associations of Diffuse Idiopathic Skeletal Hyperostosis (DISH) and thoracic kyphosis in older persons. METHODS: DISH and kyphosis were assessed in 1500 men from the Osteoporosis in Men (MrOS) study and 1267 women from the Study of Osteoporotic Fractures (SOF). DISH was assessed in baseline lateral spine radiographs, and Cobb angle of kyphosis was measured from baseline and follow-up radiographs, mean 4.6 years later in men, and 3...
October 9, 2016: Arthritis Care & Research
https://www.readbyqxmd.com/read/27713008/ct-based-morphological-analysis-of-spinal-fractures-in-patients-with-diffuse-idiopathic-skeletal-hyperostosis
#20
Eijiro Okada, Takashi Tsuji, Kentaro Shimizu, Masanori Kato, Kentaro Fukuda, Shinjiro Kaneko, Jun Ogawa, Kota Watanabe, Ken Ishii, Masaya Nakamura, Morio Matsumoto
PURPOSE: To clarify correlations between spinal fracture and delayed paralysis in patients with diffuse idiopathic skeletal hyperostosis (DISH) using computed tomography (CT) with multiplanar reformatting (CT-MPR). DISH increases susceptibility to unstable spinal fractures, leading to neurological deterioration. The pathomechanism of the neurological injury is unclear. METHODS: This multicenter retrospective study included 42 DISH patients (32 male; 10 female) treated for 45 spinal fractures during a 5-year period...
October 3, 2016: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
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