Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039483 (giant cell arteritis)
 3,204 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with signs and symptoms of giant cell arteritis may have normal temporal artery biopsy specimens. To study the relationships between signs and symptoms of this disease and the ultimate clinical diagnosis, we reviewed 51 patients who had undergone temporal artery biopsy. The mean age of the patients with abnormal biopsy specimens was higher than that of patients with normal biopsy specimens. We found headache, fever, and jaw claudication were useful symptoms in predicting abnormal biopsy specimens. The ultimate diagnoses of patients with normal biopsy specimens and no response to treatment showed high incidence of malignant neoplasms and diabetes mellitus.
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PMID:The ultimate diagnoses of patients undergoing temporal artery biopsies. 673 72

Circulatory disorders of the optic nerve may be classified into acute and chronic lesions as well as into anterior and posterior ones. In general, anterior lesions clinically prevail; they are located around the lamina cribrosa and are pathogenetically explained as a consequence of decreased blood flow in the posterior ciliary arteries as well as in the perilaminar capillaries. The symptoms of the acute anterior lesions are described. The nerve head infarction may be induced by various circulatory disorders such as arteriosclerosis, diabetes, elevated blood pressure, giant cell arteritis or other collagen diseases, but also by others. The particular importance of giant cell arteritis is stressed. The prognosis of acute anterior ischemic optic neuropathy is poor, possibilities of treatment are discussed. The chronic anterior lesion is considered to be caused by an imbalance between intraocular pressure and the perfusion pressure in the posterior ciliary arteries and consequently in the perilaminar capillaries. The clinical signs ('low tension glaucoma') are described, the therapeutic measures, although limited, are outlined. The ischemic lesions of the posterior part of the optic nerve are less well defined. However, theoretical considerations as well as clinical experience suggest that such lesions occasionally occur taking either an acute or a chronic course.
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PMID:Circulatory disorders of the optic nerve. 745 23

The pathophysiology of noninsulin-dependent diabetes mellitus (NIDDM) is characterized by insulin resistance and insulin deficiency. To search for genetic defects causing NIDDM, we have screened for mutations in the gene encoding insulin receptor substrate-1 (IRS-1), an intracellular protein that is phosphorylated by the insulin receptor and is thought to play an important role in mediating insulin action. The coding sequence of the IRS-1 gene (divided into 12 overlapping fragments) was amplified by polymerase chain reaction and screened for the presence of single stranded conformational polymorphisms. This led to the identification of 6 variants in the nucleotide sequence. There were 3 nonconservative amino acids substitutions: Gly819-->Arg, Gly972-->Arg, and Arg1221-->Cys. In addition, there were three silent polymorphisms: GAC vs. GAT encoding Asp90, GGG vs. GGA encoding Gly235, and GCA vs. GCG encoding Ala805. The previously reported Arg972 substitution was identified in 7 of 31 patients with NIDDM, 4 of 32 normal subjects, and 4 of 16 nondiabetic obese individuals. The 2 novel amino acid substitutions (Arg819 and Cys1221) were both detected in 1 patient with NIDDM, but not in either of the other 2 groups of nondiabetic individuals. All 3 amino acid residues are identically conserved in the amino acid sequences of human, mouse, and rat IRS-1, suggesting that Gly819, Gly972, and Arg1221 are important for the normal function of IRS-1. Furthermore, the prevalence of amino acid substitutions in IRS-1 is increased in patients with NIDDM. These observations suggest that mutations in the IRS-1 gene may play a causal role in the pathogenesis of NIDDM.
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PMID:Variant sequences of insulin receptor substrate-1 in patients with noninsulin-dependent diabetes mellitus. 798 70

Since the insulin receptor substrate-1 (IRS-1) is the major substrate of the insulin receptor tyrosine kinase and has been shown to activate phosphatidylinositol (PI) 3-kinase and promote GLUT4 translocation, the IRS-1 gene is a potential candidate for development of non-insulin-dependent diabetes mellitus (NIDDM). In this study, we have identified IRS-1 gene polymorphisms, evaluated their frequencies in Japanese subjects, and analysed the contribution of these polymorphisms to the development of NIDDM. The entire coding region of the IRS-1 gene of 94 subjects (47 NIDDM and 47 control subjects) was screened by polymerase chain reaction-single stranded conformation polymorphism (PCR-SSCP) analysis. Seven SSCP polymorphisms were identified. These corresponded to two previously identified polymorphisms [Gly971 --> Arg (GGG --> AGG) and Ala804 (GCA --> GCG)] as well as five novel polymorphisms [Pro190 --> Arg (CCC --> CGC), Met209 --> Thr (ATG --> ACG), Ser809 --> Phe (TCT --> TTT), Leu142 (CTT --> CTC), and Gly625 (GGC --> GGT)]. Although the prevalence of each of these polymorphisms was not statistically different between NIDDM and control subjects, the prevalence of the four IRS-1 polymorphisms with an amino acid substitution together was significantly higher in NIDDM than in control subjects (23.4 vs 8.5%, p < 0.05), and two substitutions (Met 209 --> Thr and Ser809 --> Phe) were found only in NIDDM patients. Equilibrium glucose infusion rates during a euglycaemic clamp in NIDDM and control subjects with the IRS-1 polymorphisms decreased by 29.5 and 22.0%, respectively on the average when compared to those in comparable groups without polymorphisms, although they were not statistically significant. Thus, IRS-1 polymorphisms may contribute in part to the insulin resistance and development of NIDDM in Japanese subjects; however, they do not account for the major part of the decrease in insulin-stimulated glucose uptake which is observed in subjects with clinically apparent NIDDM.
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PMID:Molecular scanning of the insulin receptor substrate-1 (IRS-1) gene in Japanese patients with NIDDM: identification of five novel polymorphisms. 873 21

Mitochondrial FAD-linked glycerophosphate dehydrogenase (mGPDH) is thought to be an important factor for glucose sensing in pancreatic beta cells. To evaluate the significance of the mGPDH gene in the development of non-insulin-dependent diabetes mellitus (NIDDM), we set up primers and conditions for polymerase chain reaction (PCR) amplification of the coding exons and flanking regions. Screening of 100 Japanese NIDDM patients for mutations using the PCR-single strand conformation polymorphism (SSCP) method revealed four variants (ACA:Thr243-ACG:Thr243, CAT:His264-CGT:Arg264, GCA:Ala305-GCC:Ala305, GCA:Ala 306-TCA:Ser306). The His264-Arg264 variant was found in 36 patients, while the other variants were found in only one patient each. Neither the genotypic (chi 2 = 3.15, p = 0.21) nor the allelic (chi 2 = 2.27, p = 0.13) frequency of the His264-Arg264 mutation differed between 253 Japanese NIDDM patients and 157 non-diabetic subjects. In addition, in NIDDM patients, neither the treatment modality nor body mass index differed between those with and without this mutation. These results suggest that inherited defects at this locus do not make a major contribution to genetic susceptibility to NIDDM in the Japanese population.
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PMID:Detection of variants in the mitochondrial glycerophosphate dehydrogenase gene in Japanese NIDDM patients. 908 74

A 77-year-old woman was admitted because of progressive vertigo, nausea and a dysarthric speech disorder. The patient's history of diabetes mellitus, hypertension and hypercholesterolaemia, and the finding of murmurs over peripheral arteries at physical examination led to a presumptive diagnosis of cerebellar ischaemia in the context of generalized atherosclerosis. However, the diagnosis was revised when bilateral cerebellar infarction was demonstrated radiologically, and a biopsy of a temporal artery revealed giant cell arteritis. Despite treatment with prednisone (60 mg daily) the patient's neurological condition deteriorated, and she succumbed several months later to pneumonia. The case illustrates the pitfalls in the diagnostic approach of elderly patients with multiple pathology and it also emphasizes that in an elderly person with high erythrocyte sedimentation rate (> 100 mm in the first hour) temporal arteritis should be ruled out as soon as possible to prevent further neurological damage.
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PMID:[Clinical thinking and decision making in practice. An elderly patient with vertigo and high sedimentation rate]. 1066 48

We report a patient with a dissecting aortic aneurysm associated with polymyalgia rheumatica (PMR). The patient is a 55-year-old Japanese man without a history of hypertension, diabetes mellitus and syphilis. He was admitted to an emergency hospital because of severe back pain, and was diagnosed as having a dissecting aneurysm of the descending aorta. After the admission, he began to notice severe muscle pain in his bilateral shoulder. Although his back pain gradually improved, his muscle pain progressively worsened, and his lower extremities were also involved. Then, he was introduced to our hospital. On neurological examination, he was alert and oriented. His cranial nerves were all intact. There was no muscle weakness nor sensory disturbance. Laboratory studies revealed that his erhythrocyte sedimentation rate was extremely high without elevation of the serum level of creatine phoshpokinase, rheumatoid factors and c-reactive protein. He was diagnosed as having PMR, and oral administration of prednisolone++ was started. Within several days, his muscle pain dramatically disappeared. As is known, there is a close relationship between PMR and temporal arteritis of giant cell arteritis. In general, PMR is a benign disease and responds well to steroid therapy, and prevalence of the giant cell arteritis is low in Japanese people. However, it should be kept in mind that the dissecting aneurysm is a relevant, severe complication of PMR because arteritis can be latently present in PMR.
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PMID:[The dissecting aortic aneurysm associated with polymyalgia rheumatica: a case report]. 1065 1

A case of rhinocerebral mucormycosis occurring in a 41-year-old man with insulin-treated diabetes mellitus is reported. Microscopically, biopsy samples obtained from the left ethmoid and middle turbinate sinuses contained fungi that formed mycotic granulomas associated with multinucleate giant cell arteritis. The multinucleate giant cells contained broad, infrequently septate hyphase consistent with mucormycosis. The patient received surgical debridement with extenteration of the left orbit, and intravenous liposome-encapsulated amphotericin B. After 12 months, examination of the patient revealed complete healing. Multinucleate giant cell granulomas and arteritis are only exceptionally associated with rhinocerebral mucormycosis, but these histologic findings may be correlated with a progressive disease with better prognosis.
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PMID:Longterm survival in acute rhinocerebral mucormycosis with giant cell arteritis and foreign body granulomas. 1131 85

Many Doppler imaging studies have been performed in recent years in a large number of ocular disorders because of improvements in the Doppler equipment used for detecting and measuring the low blood-flow velocities that are a requisite for the quantitative evaluation of blood flow in the orbital vessels. The ophthalmic artery, central retinal artery and vein, posterior ciliary arteries, and the superior ophthalmic vein can be easily identified using color Doppler sonography. The changes in local blood flow in these vessels assessed by spectral analysis pulsed Doppler sonography have been used to characterize and to obtain new insights into different nontumoral vascular disorders including carotid artery stenosis, central retinal vein occlusion, giant cell arteritis, glaucoma, diabetes, fistulas, and tumoral processes of the eye and orbit. Our experience has confirmed the important role of Doppler sonography in the assessment of subclinical changes in the vascular bed, in the understanding of different processes, for following up after specific treatments, and for determining the long-term prognosis of these various conditions.
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PMID:Color Doppler imaging of orbital vessels: personal experience and literature review. 1529 8

A patient with arteriosclerosis, diabetes mellitus, and giant cell arteritis (GCA) treated continuously with low-dose prednisone developed anterior ischemic optic neuropathy (AION) at 5 and 13 months after clinical diagnosis of GCA. At the time of late recurrent AION, there were no systemic symptoms or elevations in acute phase reactants to signal active arteritis, yet temporal artery biopsy disclosed dramatic inflammation, forcing the presumption that the infarct was arteritic. Recurrent systemic symptoms and elevation of acute phase reactants are not reliable warning signs of reactivated GCA. In patients at high risk for corticosteroid complications, late biopsy may be a reasonable guide to corticosteroid weaning.
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PMID:Late ipsilateral recurrence of ischemic optic neuropathy in giant cell arteritis. 1278 21


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