Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Although echocardiography is a useful diagnostic tool in hypertrophic cardiomyopathy (HCM), it is sometimes difficult to differentiate it from hypertensive heart disease (HHD): some patients with HCM show symmetrical hypertrophy, whereas patients with HHD sometimes show asymmetrical septal hypertrophy. We used a radioiodinated long-chain fatty acid tracer to visualize the altered myocardial fatty acid metabolism of HCM and HHD. Carnitine is the essential substance for the beta-oxidation of long-chain fatty acids. We recently reported that serum free carnitine levels in HCM were elevated and that they were significantly correlated with the severity of myocardial fatty acid metabolic disorder. Therefore, we investigated serum carnitine levels in patients with HCM and HHD, which can contribute to the differentiation of each other. We studied 56 patients with HCM and 20 patients with essential hypertension. Serum free carnitine levels were significantly higher in patients with HCM than those with HHD (HCM 52.5+/-9.5 nmol/mL, HHD 46.6+/-6.4 nmol/mL, P<0.01), but they showed no statistical difference between patients with HHD and normal subjects. Serum acylcarnitine levels were significantly lower in patients with HCM than those with HHD (HCM 10.1+/-4.0 nmol/mL, HHD 14.5+/-4.9 nmol/mL, P<0.0005), although they did not differ between patients with HHD and normal subjects. Scintigraphic analyses with a long-chain fatty acid analog revealed that myocardial tracer uptake was much reduced in patients with HCM compared with that in patients with HHD (quantitative analysis: HCM 2.11+/-0.12, HHD 2.22+/-0.17, P<0.05; semiquantitative analysis: HCM 13.6+/-6.3, HHD 2.0+/-1.5, P<0.0001). In conclusion, the differences in serum carnitine levels between HCM and HHD reflect altered myocardial fatty acid metabolic impairment, and the levels can help to distinguish these 2 diseases.
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PMID:Can serum carnitine levels distinguish hypertrophic cardiomyopathy from hypertensive hearts? 1094 80

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a rare metabolic disorder that can lead to acute encephalopathy, liver disease, cardiomyopathy, rhabdomyolysis, and long-term complications involving the eye and peripheral nerves. LCHADD is a peroxisome biogenesis disorder (PBD). Except for the series presented by Tyni and colleagues (Ophthalmology 1998;105:810-824), which described visually insignificant lens opacities in association with LCHADD, previous ophthalmic papers have only reported retinal complications. We report on one case with progressive asymmetrical cataract. The more mildly affected eye had a similar morphology to that previously reported and the more severely affected eye had an unusual morphology we believe is unique to LCHADD. We discuss the range of ophthalmic presentations in our cases and in the literature. The variability of the severity of ocular complications, even between eyes in one individual, makes it difficult to test the effectiveness of therapeutic options upon the ophthalmic complications.
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PMID:Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). 1266 Aug 66

Gout is a metabolic disorder in which there is either an increase in production or a decrease in excretion of uric acid leading to hyperuricemia. Long-lasting hyperuricemia causes the deposition of monosodium urate crystals in the joints and soft tissues triggering gouty arthritis and, if not properly treated, the formation of gouty tophi. Characteristic of gout are well-defined, punched-out erosion with overhanging edges, with preservation of the joint space, lack of periarticular osteopenia, asymmetrical involvement, soft tissue nodules, and intraosseous calcifications. On magnetic resonance imaging, tophi usually have low signal intensity on both TI- and T2-weighted images and a variable enhancement pattern.
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PMID:Advanced imaging of gout. 1459 58

Gouty arthritis is a metabolic disorder associated with hyperuricemia. Despite the development of novel pharmacotherapies, some hyperuricemia patients are drug refractory and develop gout. A 74-year-old man with frequent gouty attacks and chronic renal failure presented with asymmetrical polyarthritis affecting multiple joints. The diagnosis of gout was confirmed based on the presence of monosodium urate crystals in the patient's right wrist. The administration of systemic corticosteroids relieved the joint inflammation and pain; however, the urate level increased to 28 mg/dL and the gout attacks recurred. Combined allopurinol, febuxostat, and benzbromarone therapy reduced the urate level to <6 mg/dL, and the attacks gradually declined. This is the first report of two xanthine oxidase inhibitors being used to treat refractory gout.
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PMID:Successful treatment of refractory gout using combined therapy consisting of febuxostat and allopurinol in a patient with chronic renal failure. 2463 32

Paget's disease of bone (PDB) is a localized, chronic bone metabolic disorder, characterized by an osteoclastic malfunction, causing increased bone resorption and subsequent compensatory creation of new bone with a defective microstructure. Monostotic cases of PDB are less common than asymmetrical polyostotic PDB cases. The radiological diagnosis of PDB is usually straightforward, but monostotic cases can cause diagnostic difficulties. We report a case of monostotic PDB in a 64-year-old man. He experienced pain of the left lower extremity and radiological investigations revealed irregular areas of bone destruction in the left femur. Bone biopsy findings indicated PDB. Treatment with bisphosphonates was initiated, but after about three years of treatment left hip arthroplasty was required due to a large area of bone destruction. Presentation of this case report aims to discuss diagnostic challenges of monostotic cases of PDB and present guidelines of treatment.
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PMID:Monostotic Paget's disease of bone - literature review and case report. 3146 33