Search results for "GENETICS"
showing 10 items of 12494 documents
A rare form of spondylometaphyseal dysplasia-type A4
1998
We present 2 cases of a previously apparently unreported spondylo-metaphyseal dysplasia comprising dwarfism, severe metaphyseal changes, ovoid vertebrae and mild platyspondyly with anterior tonguing of the vertebral bodies. The inheritance may be autosomal recessive.
AB1076 Course of Physical Functioning and Pain in Osteoarthritis of the Knee or Hip: A Systematic Review
2014
Background The natural course of physical functioning in knee and/or hipOA is highly variable; some patients remain stable, while others improve or worsen. Knowledge on prognostic risk factors related to physical functioning are used to adapt interventions. Objectives (1) To systematically summarize the literature from March 2005 to January 2013 on the course of physical functioning and pain in patients with OA of the knee or hip and (2) to provide an overview of prognostic factors of physical functioning and future pain for these patients. Methods A search was conducted in PubMed, CINAHL, Embase and Psych-INFO in January 2013. Eligible studies were prospective cohort studies that included …
Treatment with a CO-releasing molecule (CORM-3) reduces joint inflammation and erosion in murine collagen-induced arthritis.
2008
Contains fulltext : 70589.pdf (Publisher’s version ) (Closed access) OBJECTIVE: CO-releasing molecules (CO-RMs) are a novel class of anti-inflammatory agents. We have examined the possible therapeutic effects of CORM-3 in collagen-induced arthritis (CIA). METHODS: Arthritis was induced in DBA-1/J mice by type II collagen. Animals were treated with CORM-3 (5 and 10 mg/kg/day, intraperitoneally) or the inactive compound iCORM-3 (10 mg/kg/day, intraperitoneally) unable to release CO, from days 22 to 31. Production of anti-type II collagen antibodies, cytokines and cartilage olimeric matrix protein (COMP) was evaluated by enzyme-linked immunosorbent assay, and prostaglandin E(2) (PGE(2)) by rad…
AB1394 Compliance and arthralgias in clinical therapy (compact): Assessment of the incidence of arthralgia, therapy costs and compliance within the f…
2013
Background Aromatase inhibitors (AI) are well established as adjuvant endocrine treatment for postmenopausal women with hormone receptor-positive (HR+) early breast cancer (EBC). Drug-induced myalgia or arthralgia is among the most frequently reported adverse drug reactions to AIs. Objectives Little is known about the pathomechanism by which AIs cause muscle and joint injury. The literature on skeletal muscle complaints with AIs is confusing, in part because of a lack of clear definitions. Myalgia/arthralgia is defined as muscle/joint pain and is likely to affect patients’ quality of life and compliance with AI medication . We designed a prospective trial to collect real world data on the e…
Immune-mediated rippling muscle disease with myasthenia gravis: a report of seven patients with long-term follow-up in two.
2009
We report seven patients with immune-mediated rippling muscle disease (iRMD) and AChR-antibody positive myasthenia gravis (MG) without germline caveolin-3 gene mutations. We describe the follow-up of two patients and the clinical features of five new patients (1 female, 4 male, aged 32 to 69 years). These presented with significant generalized, exercise-induced and electrically-silent muscle rippling with myalgia, combined with generalized MG. In two of the seven patients, MG appeared before iRMD. Mediastinal imaging excluded thymic alterations in all, although two had other coincident tumours. Myalgia and rippling were aggravated by acetylcholinesterase-inhibitor treatment. Generalized MG …
Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
2010
A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori’s trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highl…
Hypokalemic rhabdomyolysis associated with Bartter's syndrome.
1983
Severe potassium deficiency is an uncommon cause of rhabdomyolysis. We recently treated a 45-year-old patient with myalgia, serious generalized weakness, increased serum creatine kinase and myoglobin level as well as excessive hypokalemia. Histological examination of deltoid muscle biopsy showed rhabdomyolysis. After complete recovery of muscle damage by potassium substitution Bartter's syndrome proved to be the cause of initial and persistent hypokalemia.
Myoadenylate deaminase deficiency
1987
Myoadenylate deaminase (MAD) is the rate-limiting enzyme in the purine nucleotide cycle which is biochemically linked to glycolysis and the citric cycle and thereby providing energy during intense muscular activity. In muscle fibers, myoadenylate deaminase operates at considerably higher activity levels than in other organs. First detected using enzyme-histochemical methods, it now appears that deficiency of myoadenylate deaminase is one of the most frequent enzyme defects in muscle. The primary defect may occur as an isolated nosological entity or not infrequently it is also associated with a large spectrum of different neuromuscular conditions. It seems to be the primary unassociated MAD …
NEO1 and NEO-EXT studies: Long-term safety of repeat avalglucosidase alfa dosing for 4.5 years in late-onset Pompe disease patients
2019
Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of repeat avalglucosidase alfa dosing (5, 10, or 20 mg/kg qow) for 6 months were evaluated in NEO1 (NCT01898364) in late-onset Pompe disease patients either treatment-naive (Naive) or having received alglucosidase alfa for ≥9 months (Switch). In NEO-EXT (NCT02032524), an ongoing NEO1 extension, long-term safety and pharmacokinetics of repeat avalglucosidase alfa dosing will be monitored over 6 years. Interim safety results after 4.5 years of NEO-EXT are reported here. Mean ages at NEO1 enrollment were: Naive: 44.8 (SD:20.3, range:20-78) years and Switch: 46.7 (SD:14.1, range:21-68) years. Of the 24 NEO1 parti…
The late Late Albian (Mortoniceras fallax Zone) cephalopod fauna from the Bracquegnies formation at Strépy-Thieu (Hainaut, southern Belgium).
2016
Excavations in 1989-1990 for the construction of a boat lift near the villages of Strépy and Thieu, east of Mons (province of Hainaut, southern Belgium), exposed a 40-metre section of the Bracquegnies Formation (Haine Green Sandstone Group; the ‘Meule de Bracquegnies’ of previous authors). Several hundred well-preserved, silicified cephalopods were collected from between 15 and 35 metres above the base of the sequence temporarily exposed there. The fauna is: Eutrephoceras clementianum (d’Orbigny, 1840), Puzosia (Puzosia) mayoriana (d’Orbigny, 1841), Callihoplites tetragonus (Seeley, 1865), Discohoplites valbonnensis valbonnensis (Hébert & Munier-Chalmas, 1875), Cantabrigites cantabrigense S…