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)

The polymyalgic syndrome may be the presenting clinical feature for several diseases such as polymyalgia rheumatica, temporal arteritis, malignancy, rheumatoid arthritis, virus infections, connective tissue diseases, and myositis. In this review we present the various diagnostic options seen from a rheumatological point of view, with emphasis on polymyalgia rheumatica, temporal arteritis and the paraneoplastic syndrome. We are of the opinion that polymyalgia rheumatica is overdiagnosed in general practice, and steroid treatment may delay diagnosis and treatment of other differential diagnosis presenting as the polymyalgic syndrome. Several recently published Norwegian epidemiological studies offer new information on various aspects of the polymyalgic syndrome, which will be discussed.
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PMID:[Myalgia and high sedimentation rate in adults]. 1118 94

Mutations in the ras gene are key events in the process of carcinogenesis; in particular, point mutations in codon 61 of exon 2 of the N-ras gene occur frequently in malignant melanoma (MM). We searched for point mutations in the N-ras gene in a large series of primary and metastatic MM from 81 different retrospectively selected patients using the very sensitive denaturing gradient gel electrophoresis technique, followed by sequencing. The classical codon 12 and codon 61 mutations were found in 21 and 17% of the cases, respectively. No codon 13 mutation was found. A novel mutation at codon 18 of exon 1, consisting of a substitution of alanine (GCA) by threonine (ACA), was found in 15% of the primary MMs but in none of the metastatic MMs. All of the other cases were free of mutations. Using microdissected cells from distinctive MM growth phases as source of DNA for mutation analysis, this particular N-ras exon 1 mutation at codon 18 was already present in the radial growth phase and preserved throughout the successive growth phases; it was also found in a dysplastic nevi in continuity with a MM, indicating a clonal relationship between both lesions. Our findings also illustrate the clonal relationship between the distinctive growth phases in MM and suggest the codon 18 mutation to occur early in MM development. The MM in patients with this mutation were significantly thinner than those without a codon 18 mutation (P = 0.0257). Statistical analysis, comparing the group of codon 18 patients with the group of patients with the classical mutations and without mutations, revealed a highly significant difference in overall outcome. The cumulative probability of developing metastasis was significantly lower for the group patients with a codon 18 mutation (P = 0.0130). We can thus conclude that this codon 18 mutation identifies a group of patients with better prognosis than patients with melanoma that harbor wild-type sequence or classical activating point mutations in codon 12 or 61. Preliminary nucleotide binding measurements could not detect a difference between wild-type Ras protein and the mutant Ras(A18T) protein. However, for a precise elucidation of the role of the N-Ras(A18T) mutant in melanoma, additional studies aimed to measure the affinity to guanine nucleotide exchange factors and GTPase-activating proteins are needed.
Cancer Res 2001 Jun 15
PMID:A novel N-ras mutation in malignant melanoma is associated with excellent prognosis. 1140 71

OBJECTIVES: The authors described a case of Riedel's thyroiditis, a relatively rare disease affecting the thyroid gland. RESULTS: A 38-year-old female was diagnosed with Riedel's thyroiditis by a frozen section examination during attempted surgery for the suspicion of malignancy. The histopathologic examination confirmed the diagnosis of Riedel's thyroiditis combined with signs of giant cell arteritis. After hemithyroidectomy, the patient had paresis of the recurrent laryngeal nerve for five days and signs of hypothyroidism and hypoparathyroidism for three months after surgery. The level of thyroid peroxidase antibodies titer was higher. The patient had no compression symptoms, no signs of systemic immunopathology, and no signs of extracervical fibrosis. She was put on prednison 5 mg daily. CONCLUSIONS: Riedel's thyroiditis can be looked upon as a cervical fibrosis of unknown etiology affecting the thyroid. In our case it was combined with signs of giant cell arteritis.
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PMID:CASE REPORT: Invasive fibrous thyroiditis (Riedel's disease) with signs of giant cell arteritis. 1145 35

Medullary thyroid carcinoma (MTC) occurs as a sporadic tumor or in connection with inherited cancer syndromes of multiple endocrine neoplasia type 2 and familial MTC. Missense RET proto-oncogene mutations and small in-frame deletions are found in most of the cases. In a significant amount of sporadic MTC cases somatic mutation at codon 918 (exon 16), or at codons 609, 611, 618, 620 (exon 10), or codons 630, 634 (exon 11) appear. We report here on three new somatic cell missense mutations of the RET proto-oncogene associated with sporadic MTC. In one tumor mutation at codon 922 TCC(Ser)-->TTC(Phe) in exon 16 was found. In another tumor two mutations at codons 639 GCA(Ala)-->GGA(Gly) and 641 GCT(Ala)-->CGT(Arg) in the exon 11 were observed. Allele-specific PCR followed by sequencing demonstrated the presence of both mutations at the same allele.
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PMID:Three novel mutations in the RET proto-oncogene. 1169 59

PTEN, a tumor suppressor gene, has been found to be inactivated by structural abnormalities or epigenetic changes in several types of human cancers. Recently, several studies have also suggested the possibility that the PTEN gene is a target of genomic instability in human cancers displaying microsatellite instability (MSI). To investigate the role of PTEN in human oral squamous cell carcinomas, we screened the entire coding region sequences and examined the expression of the PTEN gene in 81 oral cancers displaying microsatellite stability (MSS) and 5 oral cancers displaying MSI. Mutation of the PTEN gene was identified in one MSS cancer (1/81; 1.2%) and three MSI cancers (3/5; 60%). The MSS cancer harbored a missense mutation from Ala (GCA) to Val (GTA) at codon 137. Of the MSI cancers containing the PTEN mutation, case 36 had a missense mutation from Lys (AAA) to Glu (GAA) at codon 254, case 43 contained a frameshift mutation (one A deletion) in a 6 bp poly(A) tract affecting codon 265-267, and case 64 harbored two missense mutations from Val (GTG) to Ala (GCG) at codon 222, and from Gly (GGA) to Arg (AGA) at codon 230 indicating biallelic mutation of PTEN. Genomic deletion of exon 5, resulting in loss of PTEN mRNA, was observed in two MSS cancers. In spite of an intact PTEN gene, one MSS and one MSI cancer lacked PTEN mRNA. These findings suggest that the inactivation of PTEN by either mutation or loss of transcript plays a role in the pathogenesis of some oral cancers (8/86; 9.3%). Furthermore, inactivation of PTEN was far more frequent in MSI oral cancers (4/5; 80%) than in MSS oral cancers (4/81; 4.9%).
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PMID:Inactivation of the PTEN gene by mutation, exonic deletion, and loss of transcript in human oral squamous cell carcinomas. 1237 Jul 46

We report the first mutational study of thymidine kinase 1 (TK1) performed in human solid tumors. We sequenced cDNAs representing the complete coding region of TK1 in human breast (n=22) and colorectal (n=26) cancer. Codon 106 near the ATP binding site constantly differed (ATG --> GTG; Met --> Val) from the one deposited by Bradshaw and Deininger in the Genbank database (Accession number NM_003258). Silent polymorphisms at codon 11 (CCC --> CCT; Pro --> Pro) and codon 75 (GCG --> GCA; Ala --> Ala) were frequently detected in tumors as well as in normal tissues. In breast cancer the two polymorphisms were observed in 63.6% of the samples analyzed. No significant association could be found between polymorphisms and TK activity. In colorectal cancer the incidence of the two changes was 73.1% and 69.2%, respectively. Interestingly, one colon cancer with high cytosolic TK activity displayed two missense mutations located in and near the putative phosphorylation site by tyrosine kinase (s) (TAT --> CAT; Tyr --> His) and by cAMP-, cGMP-dependent protein kinase (TAC --> TGC; Tyr --> Cys), respectively; adjacent normal mucosa showed no mutation. This may open new avenues that imply TK1 activity in tumor cell proliferation.
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PMID:Mutation analysis in the coding sequence of thymidine kinase 1 in breast and colorectal cancer. 1269 56

The vasculitides are conditions of unknown aetiology. Until recently, relatively little was known about their incidence and prevalence, but there are now increasing data, especially from Europe. These are conditions of the extremes of age. Kawasaki disease occurs predominately in Asian children, with a peak annual incidence of 90/100,000 children aged under 5 years. Henoch-Schonlein purpura has an incidence of 70/100,000 in those aged 4-7 years and is also more common in Asians. Primary systemic vasculitis has a peak incidence 6/100,000 in those aged 65-74 years. Giant cell arteritis is most common in Caucasians aged over 70 years, with an incidence of 53/100,000. Vasculitis has been associated with malignancy, the association being strongest between haematological malignancies and cutaneous vasculitis. There is occasionally a temporal association; failure to respond appropriately to therapy should prompt a search for malignancy. Lesions suspicious of malignancy should be biopsied even if the diagnosis of vasculitis has been histologically proven.
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PMID:What is known about the epidemiology of the vasculitides? 1585 91

Polymyalgia rheumatica (PMR) is a relatively common disorder in the elderly. Whereas the relationship between polymyalgia rheumatica and giant cell arteritis (GCA) is well recognized, there is still controversy about PMR and malignancy. We are presenting a patient with PMR and adenocarcinoma of the sygmoid colon and hypothesize a paraneoplastic relationship.
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PMID:Polymyalgia rheumatica and colon malignacy: case report. 1624 24

We describe a 70-year-old woman with a 2-month history of a numb chin and gradually increasing bilateral headache and malaise. Neurological examination disclosed chin hypoesthesia while investigations showed a normocytic anemia, ESR of 100, and CRP of 72. A CT brain scan, chest X-ray, and bone scan showed no evidence of malignancy. Temporal arteritis was suspected and prednisolone started with prompt resolution of the headache, chin hypoesthesia, ESR, and CRP. This case illustrates an unusual etiology of the numb chin syndrome, which in most occasions is associated with malignancy. Temporal arteritis should be borne in mind as a possible explanation for this as it is a treatable condition with potentially serious, life-threatening complications.
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PMID:The numb chin syndrome as an early manifestation of giant-cell (temporal) arteritis: a case report. 1632 76

The case is reported of non-bacterial thrombotic endocarditis (NBTE) in a patient with giant cell arteritis and prostate cancer, and the relevant literature reviewed. To the present authors' knowledge, this is the first case to be reported where NBTE coexists with both arteritis and cancer. NBTE is difficult to diagnose if the underlying disease is accompanied by fever. If a diagnosis of probable infective endocarditis is established, the cultures and serology are negative, and there is no response to antibiotic treatment, then NBTE should be considered.
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PMID:Factors associated with non-bacterial thrombotic endocarditis: case report and literature review. 1635 71


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