Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 80-year-old woman was admitted after a 4 months history of severe headache. Laboratory data revealed elevated ESR, mild anemia and alteration of liver function test. Temporal artery biopsy showed the classical picture of giant cell arteritis. The clinical symptoms and laboratory abnormalities reversed to normal after prednisolone therapy. Although the true prevalence of this disease is unknown in Thailand, previous studies in western countries have revealed that it is not a common disease. GCA may be missed or incorrectly diagnosed in elderly patients with headache and a high ESR. Such a diagnosis can subject the patient to complication of GCA, needless biopsy and serious side effects of therapy with large doses of prednisolone.
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PMID:Giant cell arteritis. 223 Jun 31

PMR and GCA are diagnosed relatively frequently in the white geriatric population. Patients may suffer from both conditions or from either alone. PMR is considered a diagnosis of exclusion, with the most characteristic symptoms being profound morning stiffness affecting the hip and shoulder girdles. The diagnosis of PMR can be buttressed by the findings of an elevated ESR, anemia, and mildly elevated liver enzymes. PMR can be controlled with less than or equal to 20 mg/d of prednisone, whereas higher doses of glucocorticoids are required for GCA. Classic GCA is characterized by headache, visual changes, and constitutional symptoms. GCA can be confirmed by a biopsy revealing a histologic picture of granulomatous inflammation centered around the elastin of the involved vessel. Judicious efforts to taper steroids are indicated in both syndromes, but many patients require therapy for at least 2 years.
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PMID:Polymyalgia rheumatica and temporal arteritis: managing older patients. 371 Jan 67

Giant cell (temporal, cranial) arteritis (GCA) is usually confirmed in patients presenting with classic features. Those who present with atypical features often undergo prolonged evaluations until a diagnosis is established. Severe anemia as an initial manifestation of GCA has rarely been described. We describe herein 2 patients with biopsy-proven GCA who presented with severe anemia and significant weight loss, which corrected after corticosteroid therapy.
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PMID:Severe anemia as the presenting manifestation of giant cell arteritis. 788 Jan 98

Three novel splice site mutations and two novel missense mutations were identified by molecular analysis of pyruvate kinase (PK) deficiency associated with hereditary nonspherocytic hemolytic anemia. A Nepalese PK variant, PK Kowloon, was found to have a homozygous transversion at the 5'-splice site of the seventh intervening sequence (IVS) of the L-type PK gene (Ivs7[+1]gt --> tt). Using a reverse transcription polymerase chain reaction (RT-PCR) assay, we showed that the R-type PK mRNA in the proband's reticulocytes included the seventh IVS between the seventh and eighth exon, introducing a stop codon 3 nucleotides downstream of the mutated site. Consequently, the translational product may lack 44% of the R-PK polypeptide. A transition at the last nucleotide of exon 9 (1269GCG --> GCA) was found in a Japanese PK variant, PK 'Kamata.' The mutation did not alter the amino acid sequence, but caused skipping of the ninth exonic sequence in the R-PK transcripts. As a result, the affected R-type PK lost 51 amino acid residues (373Met-423Ala del). A transversion at the splice acceptor site of the third IVS (Ivs 3[-2]ag --> tg) was identified in PK 'Aomori.' The mutation resulted in aberrant splicing at a cryptic splice site within exon 4, causing deletion of two codons in the aberrant R-PK transcript (95 Gly-96 Pro --> del). Both PK 'Kamata' and PK 'Aomori' had a missense mutation on the other allele, 1044AAG --> AAT (348Lys --> Asn) and 1075CGC --> TGC (359Arg --> Cys), respectively. Although both 348Lys and 359Arg were located in the sixth loop of A domain (beta/alpha)8 barrel, which has been shown to contain the substrate and cation binding sites, the degree of anemia was much more severe in PK 'Kamata' than PK 'Aomori,' possibly because the 51 amino acid deletion of PK 'Kamata' but the 2 amino-acid deletion of PK 'Aomori' may abolish PK catalytic activity.
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PMID:Frame shift mutation, exon skipping, and a two-codon deletion caused by splice site mutations account for pyruvate kinase deficiency. 916 66

In addition to facilitating the nuclear export of incompletely spliced viral mRNAs, equine infectious anemia virus (EIAV) Rev regulates alternative splicing of the third exon of the tat/rev mRNA. In the presence of Rev, this exon of the bicistronic RNA is skipped in a fraction of the spliced mRNAs. In this report, the cis-acting requirements for exon 3 usage were correlated with sequences necessary for Rev binding and transport of incompletely spliced RNA. The presence of a purine-rich exon splicing enhancer (ESE) was required for exon 3 recognition, and the addition of Rev inhibited exon 3 splicing. Glutathione-S-transferase (GST)-Rev bound to probes containing the ESE, and mutation of GAA repeats to GCA within the ESE inhibited both exon 3 recognition in RNA splicing experiments and GST-Rev binding in vitro. These results suggest that Rev regulates alternative splicing by binding at or near the ESE to block SR protein-ESE interactions. A 57-nucleotide sequence containing the ESE was sufficient to mediate Rev-dependent nuclear export of incompletely spliced RNAs. Rev export activity was significantly inhibited by mutation of the ESE or by trans-complementation with SF2/ASF. These results indicate that the ESE functions as a Rev-responsive element and demonstrate that EIAV Rev mediates exon 3 exclusion through protein-RNA interactions required for efficient export of incompletely spliced viral RNAs.
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PMID:Binding of equine infectious anemia virus rev to an exon splicing enhancer mediates alternative splicing and nuclear export of viral mRNAs. 1077 44

Giant cell (temporal) arteritis (GCA) is the most common systemic vasculitis in Western countries. It involves large and medium-sized vessels with predisposition to the cranial arteries in the elderly. Cranial ischemic complications, in particular permanent visual loss, constitute the most feared aspects of this vasculitis. Although the use of corticosteroids and a higher physician awareness may have contributed to a decrease in the frequency of severe ischemic complications, permanent visual loss is still present in 7%-14% of patients. To investigate further the incidence, trends, and clinical spectrum of visual manifestations in patients with GCA, we examined the features of patients with biopsy-proven GCA diagnosed at the single reference hospital for a defined population in northwestern Spain during an 18-year period. Predictive factors for the development of any visual manifestation, not only permanent visual loss, were also examined. Between 1981 and 1998, 161 patients were diagnosed with biopsy-proven GCA. Visual ischemic complications were observed in 42 (26.1%), and irreversible blindness, mainly due to anterior ischemic optic neuropathy and frequently preceded by amaurosis fugax, was found in 24 (14.9%). Despite a progressive increase in the number of new cases diagnosed, there was not a significant change in the proportion of patients with visual manifestations during the study period (p = 0.37). Patients with visual ischemic complications had lower clinical and laboratory biologic markers of inflammation. Indeed, during the last years of the study, anemia was associated with a very low risk of visual complications. Also, HLA-DRB1*04-positive patients had visual manifestations more commonly. Patients with other ischemic complications developed irreversible blindness more frequently. The best predictors of any visual complication were HLA-DRB1*04 phenotype (odds ratio [OR] 7.47) and the absence of anemia at the time of admission (OR for patients with anemia = 0.07). The best predictors of irreversible blindness (permanent visual loss) were amaurosis fugax (OR 12.63) and cerebrovascular accidents (OR 26.51). The present study supports the claim that ocular ischemic complications are still frequent in biopsy-proven GCA patients from southern Europe. The presence of other ischemic complications constitutes an alarm for the development of irreversible blindness. In contrast, a higher inflammatory response may be a protective factor against the development of cranial ischemic events.
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PMID:Visual manifestations of giant cell arteritis. Trends and clinical spectrum in 161 patients. 1103 76

PurposeTo determine the differences in the presentation of ophthalmic giant cell arteritis between African-Americans and Caucasians.MethodsThis was a multicenter retrospective case series comparing African-American patients with ophthalmic GCA to a previously published Caucasian cohort. Neuro-ophthalmic centers across the United States were contacted to provide data on African-American patients with biopsy-proven ophthalmic giant cell arteritis. The differences between African-American and Caucasian patients with respect to multiple variables, including age, sex, systemic and ophthalmic signs and symptoms, ocular ischemic lesions, and laboratory results were studied.ResultsThe Caucasian cohort was slightly older (mean=76.1 years) than the African-American cohort (mean=72.6 years, P=0.03), and there was no difference in sex distribution between the two cohorts. Headache, neck pain, and anemia were more frequent, while jaw claudication was less frequent in African-Americans (P<0.01, <0.001, 0.02, and 0.03 respectively). Acute vision loss was the most common presentation of giant cell arteritis in both groups, though it was less common in African-Americans (78 vs 98% of Caucasians, P<0.001). Eye pain was more common in African-Americans (28 vs 8% of Caucasians, P<0.01).ConclusionsThe presenting features of ophthalmic giant cell arteritis in African-Americans and Caucasians are not markedly different, although a few significant differences exist, including higher rates of headache, neck pain, anemia, and eye pain, and lower rates of jaw claudication and acute vision loss in African-Americans. Persons presenting with suspicious signs and symptoms should undergo evaluation for giant cell arteritis regardless of race.
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PMID:Ophthalmic presentation of giant cell arteritis in African-Americans. 2763 30

We present a case of 68-year-old female with four months history of fever, fatigue, and weight loss. She was classified as case of fever of unknown origin. The physical examination was normal, the laboratory tests showed anemia, elevation of C-reactive protein, erythrocyte sedimentation rate and fibrinogen. The diagnosis was unclear and 18F-FDG PET/CT was performed. Images showed high glucose uptake in the wall of the ascending and descending aorta, in the walls of the subclavian arteries, abdominal aorta and proximal part of both iliac arteries. The diagnosis of GCA appeared most likely and steroid treatment was initiated. After the therapy, clinical signs disappeared, laboratory parameters normalized and follow-up 18F-FDG PET/CT demonstrated lack of glucose uptake in the vessels' walls. We observed remission. 18F-FDG PET/CT offers a possibility for early detection of inflammation in the vessels and could be used for assessment of therapy response. Performing this nuclear imaging method in a clinical setting, where there is suspicion of large-vessel vasculitis is of great benefit for the final outcome.
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PMID:Giant-cell arteritis without cranial manifestations presenting as fever of unknown origin: a diagnostic value of 18F-FDG PET/CT. 3055 47