Search results for "Rome"
showing 10 items of 12914 documents
The revised ghent nosology; reclassifying isolated ectopia lentis
2014
Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutation…
Successful treatment of primary chronic osteomyelitis in SAPHO syndrome with bisphosphonates.
2008
Summary The treatment of the painful osteomyelitis in patients with SAPHO syndrome (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) is often a problem. A 53-year-old woman had experienced palmo-plantar pustular skin lesions for four years, and in the past two years complained about progressive breath-and movement-dependent pain of the sternum. On examination she had extensive palmoplantar pustules and a painful swelling in the area of the right sternoclavicular joint. The three-phase bone scintigraphy showed a strong focal enrichment in the right sternoclavicular joint and at the transition from the manubrium to the corpus sterni suggesting active osteo-chondritis. Initially prednisolo…
Use of accelerometers and gyros for hip and knee angle estimation
2013
In this paper a wearable sensor system, consisting of accelerometers and gyros, has been studied to estimate hip and knee angles. The proposed algorithm, developed in order to avoid the error accumulation due to gyroscopes drift, has been tested on angle measurement of the hip and knee of a commercial device for assisted gait. The results have shown a good accuracy of the angles estimation, also in high angle rate movement
Wirbelsäulenmanifestationen der chronischen rekurrierenden multifokalen Osteomyelitis (CRMO)
2002
Chronic recurrent multifocal osteomyelitis (CRMO) is a systemic osteo-articular disease that is characterized by a sterile, primarily chronic osteomyelitis with various distribution patterns of the individual lesions. In this article, we describe the "axial type" with predominant involvement of the spine, which represents 13 of our 41 CRMO cases of different age groups. The important element of its diagnosis is the typical lympho-plasmacellular spondylitis that can be detected and staged by scintigraphy, MRI and conventional radiography. Potentially affected are all vertebrae from the mid-cervical spine to the sacrum. One or several segments can be involved, sometimes as transient inflammat…
Traditional and new types of spondarthritis with special consideration of spondylodiscitis
1990
In rheumatology the so-called "seronegative spondarthritis" is a group of diseases characterized by the presence of HLA-B 27. This group includes the typical ankylosing spondylitis as well as atypical spondylopathies such as those occurring in psoriasis, Reiter's disease and chronic inflammatory enteropathies, which attack mainly the spine and secondarily the peripheral joints. In some severe cases, non-infectious, sterile spondylodiscitis was observed. These can lead to instability and fracture, followed by pseudarthrosis of the involved segment of the spine. In contrast to these traditional spondarthritides three new types are marked by the lack of HLA-B 27. 1) "Spondarthritis hyperostoti…
Scientific evidence on the usefulness of intraarticular hyaluronic acid injection in the management of temporomandibular dysfunction
2010
Abstract Hyaluronic acid (HA) is found in high concentrations in cartilage and synovial fluid, and is an important component of the extracellular matrixes ? exerting joint lubrication and buffering actions thanks to its viscoelastic properties. The present study examines the scientific evidence found in the current literature on the usefulness of the intraarticular injection of HA in patients with temporomandibular dysfunction. A literature search was made up until May 2008 in the following databases: PubMed / MEDLINE. Of the articles found in the literature, the present review included 18 relevant studies on the application of HA in the temporomandibular joint (TMJ). The quality, level of …
Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis
2009
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Canadian rheumatologists and pediatric rheumatologists demonstrated that Bone and joint manifestations are prominent among most patients with MPS disorders. These life-threatening lysosomal storage diseases are caused by deficient activity of specific enzymes involved in the degradation of glycosaminoglycans. Patients with attenuated MPS disease often experience diagnostic delays. Enzyme replacement therapy is now commercially available for MPS I (l…
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morqui…
2012
BackgroundAs spinal cord compression at the craniocervical junction (CCJ) is a life-threatening manifestation in patients with mucopolysaccharidosis (MPS) IVA, surgical decompression should be performed before damage becomes irreversible. We evaluated the diagnostic value of several examinations for determining the need for decompression surgery.MethodsWe retrospectively analysed results of clinical neurological examination, somatosensory evoked potential (SEP) and magnetic resonance imaging (MRI) in 28 MPS IVA patients. A scoring system - based on the severity of findings - was used to compare results of patients with and without indication for decompression surgery. Individual test scores…
Hearing loss in facioscapulohumeral dystrophy.
1986
Bilateral sloping high frequency hearing loss of 20–90 dB was found in six out of ten patients with infantile or adolescent onset FSHD. In all cases the basic defect could be traced to the cochlea. The outer hair cells of the basal turn are predominantly affected. In 20 patients with various other forms of muscular dystrophy or neuromuscular disorders with an FSH distribution, no sensorineural hearing loss was found. Myopathology of FSHD patients extended from mild to severe, often showing inflammatory infiltrates and type I fibre atrophy, without unequivocal differences between the two groups with and without hearing loss. It is concluded that cochlear dysfunction is a specific and frequen…
Multiple osteoartikuläre Komplikationen (dialyse-assoziierte Spondarthropathie) und Karpaltunnelsyndrom bei chronischer Hämodialyse
2008
Abstract During a nine-year treatment by haemodialysis for renal failure a now 57-year-old woman developed multiple complications of the skeletal system. Acute calcific periarthritis of the right shoulder became manifest one year after the start of the haemodialysis, followed the next years by progressive arthropathy with subchondral amyloid cysts of both shoulders, effusions in the knee-joint and destructive spondylarthropathy of the middle vertebrae. Carpal-tunnel syndrome also occurred, caused by a beta 2-microglobulin amyloidosis (beta 2-microglobulin concentration in serum 42.6 ng/l) and an aluminium osteopathy. These multiple complications, observed here in one patient, are each of th…