Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features of GCA can be classified into: (1) the systemic manifestations of malaise, weight loss, fever, night sweats and depression; (2) the proximal muscle pain and stiffness of polymyalgia rheumatica; (3) arteritic manifestations of pain or tenderness due to local inflammation; and (4) arteritic manifestations of ischaemia due to narrowing or occlusion of vessels. These may occur singly or in any combination and may come and go with the passage of time. Thus GCA can result in many different clinical signs and symptoms. The feared ocular and cerebrovascular complications of the condition can be prevented by the early institution of corticosteroid treatment. Early diagnosis is therefore vital. This is a simple matter when GCA presents in the classical textbook manner, but in atypical cases diagnosis can be exceedingly difficult. The absence of a reliable way of excluding the disease means that diagnosis is often a clinical exercise. A sound knowledge of the many and varied clinical manifestations of GCA is therefore required if the physician is going to prevent the ocular and cerebrovascular complications of GCA by early diagnosis and treatment.
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PMID:Clinical features of giant cell arteritis. 180 19

True rheumatologic emergencies are rare but they do occur. In many cases, the initial assessment, diagnosis, and treatment will rest in the hands of the primary care physician. Most common is acute onset of inflammatory arthritis. Properly diagnosed, adequate to dramatic improvements are usual with appropriate treatment. No less pressing are the neurologic emergencies such as spinal stenosis, cauda equina syndrome, and GCA. Among these, the potential for neurologic complications is high, so prompt diagnosis and treatment are essential. Cervical spine involvement in RA is common; again, neurologic complications are possible. The role of mechanical stabilization via surgery is not as well delineated but should be considered in patients with intractable pain due to C1-C2 facet joint disease and those with progressive neurologic deficiencies.
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PMID:Rheumatologic emergencies. 904 22

Primary erythermalgia is a rare autosomal dominant disease characterised by intermittent burning pain with redness and heat in the extremities. A previous study established the linkage of primary erythermalgia to a 7.94 cM interval on chromosome 2q, but the causative gene was not identified. We performed linkage analysis in a Chinese family with primary erythermalgia, and screened the mutations in the two candidate genes, SCN9A and GCA, in the family and a sporadic patient. Linkage analysis yielded a maximum lod score of 2.11 for both markers D2S2370 and D2S2330. Based on critical recombination events in two patients in the family, we further limited the genetic region to 5.98 cM between D2S2370 and D2S2345. We then identified two missense mutations in SCN9A in the family (T2573A) and the sporadic patient (T2543C). Our data suggest that mutations in SCN9A cause primary erythermalgia. SCN9A, encoding a voltage-gated sodium channel alpha subunit predominantly expressed in sensory and sympathetic neurones, may play an important role in nociception and vasomotor regulation.
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PMID:Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. 1498 75

PMR is an inflammatory rheumatic disease of elderly people characterized by pain and stiffness in the neck, shoulder and pelvic girdles. No specific diagnostic confirmatory tests exist and clinical symptoms, as well as increased acute phase reactants, are unspecific. The diagnostic value of imaging including ultrasound, MRI and 18F-fluorodeoxyglucose positron emission tomography (FDG-PET) with/without CT for PMR is increasingly studied. These techniques, particularly FDG-PET/CT, may help to detect underlying GCA in PMR patients with an incomplete response to glucocorticoids and/or recurrent relapses. Recent imaging studies provide novel insights into the anatomical basis of inflammation in PMR, particularly at hip and spine, which may help to distinguish this disease from other mimicking conditions. In this review, we discuss novel insights into the pathoanatomy of PMR, compare the diagnostic values of different imaging techniques and summarize current data on the role of imaging for monitoring and outcome prediction.
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PMID:New insights into the role of imaging in polymyalgia rheumatica. 3320 Feb 16