Rapid diagnosis of the HLA-H gene Cys 282 Tyr mutation in hemochromatosis by polymerase chain reaction--a very rare mutation in the Chinese population.
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Base Sequence↗
Biomedical subjects
S F Lin
Publications and source records attributed to S F Lin.
Prenatal diagnosis of thalassemia in the Chinese.
There is a high prevalence of thalassemia in the Taiwan area. Prenatal diagnosis of severe forms of thalassemia is important for the prevention of this disease. We performed prenatal diagnosis in 167 cases, of which 59 cases were diagnosed by chorionic villi biopsy, 91 cases by amniotic fluid analysis, and 17 cases by cord blood analysis. Hb Bart's hydrops was detected by amplifying the break junction area of the alpha-thalassemia-1 Southeast Asia (SEA)-type gene, and beta-thalassemia major was detected by using naturally occurring restriction sites and the amplified created restriction sites (ACRS) method. Screening for hemoglobin (Hb) Bart's hydrops revealed 26 cases of Hb Bart's hydrops, 67 cases of alpha-thalassemia-1 (including 6 Hb Bart's hydrops falsely diagnosed as alpha-thalassemia-1 from chorionic villi samples), and 38 normal cases. Screening for beta-thalassemia major revealed 8 cases of beta-thalassemia major, 17 cases of beta-thalassemia minor, and 11 normal cases. In cases of alpha-thalassemia, maternal tissue contamination in the chorionic villi samples occurred in the diagnosis of the carrier state and further amniotic fluid analysis will be necessary. There were no any false-positive or false-negative results in beta-thalassemia major screening. We conclude that prenatal diagnosis is a reliable and accurate screening method for thalassemia and may be valuable in other areas of high prevalence for thalassemia in Southeast Asia and in Southern China.
Gene Frequency↗
The transcriptional activator Sp1, a novel autoantigen.
OBJECTIVE: To identify one nuclear autoantigenic protein within a complex of DNA binding proteins that bind to GC-rich sequences in Epstein-Barr virus and cellular DNA, and to describe the clinical characteristics of patients whose sera contained autoantibodies to this novel autoantigen. METHODS: Antibodies to autoantigen Sp1 were initially measured by an electrophoretic mobility shift assay to detect DNA binding proteins. Nuclear extracts and purified Sp1 protein were used in these assays. Recognition of the autoantigen by autoimmune sera was confirmed by immunoprecipitation and immunoblotting. RESULTS: The autoantigen was identified as Sp1. Anti-Sp1 was detected in sera from 8 (3%) of 230 patients. These sera contained antinuclear antibodies, but lacked antibodies to double-stranded DNA or to several extractable nuclear antigens. The patients whose sera contained antibodies to Sp1 were white women with fatigue, arthritis, Raynaud's phenomenon, malar rash, and photosensitivity. CONCLUSION: Sp1 is the first described example of an RNA polymerase II transcription activator as an autoantigen. The presence of Sp1 autoantibodies is associated with undifferentiated connective tissue disease.
Adult↗
Aberrant FHIT transcripts in acute myeloid leukaemia.
Recently the FHIT gene (fragile histidine triad gene) has been identified at chromosome 3p14.2 and a high frequency of abnormalities in this gene has been demonstrated in various cancers. To determine the role of the FHIT gene in leukaemia, bone marrow or peripheral blood from 62 acute myeloid leukaemia patients and five haemopoietic cell lines (HL60, U937, Raji, KC-1, K562) were analysed by reverse transcription of the FHIT mRNA followed by PCR amplification and sequencing of the products. To detect the deletion of the FHIT gene, 17 cases were evaluated using microsatellite polymorphism analysis. In this study, 17/62 (27%) AML patients expressed aberrant transcripts which lack two or more exons of the FHIT gene, and all the cell lines exhibited the aberrant FHIT transcripts. No cases exhibited a loss of the FHIT alleles. Our data indicated that the FHIT gene may play a role in myeloid carcinogenesis and may be indicated in the late progression of the disease.
Acute Disease↗
Identification, expression, and immunogenicity of Kaposi's sarcoma-associated herpesvirus-encoded small viral capsid antigen.
We describe a recombinant antigen for use in serologic tests for antibodies to Kaposi's sarcoma (KS)-associated herpesvirus (KSHV). The cDNA for a small viral capsid antigen (sVCA) was identified by immunoscreening of a library prepared from the BC-1 body cavity lymphoma cell line induced into KSHV lytic gene expression by sodium butyrate. The cDNA specified a 170-amino-acid peptide with homology to small viral capsid proteins encoded by the BFRF3 gene of Epstein-Barr virus and the ORF65 gene of herpesvirus saimiri. KSHV sVCA was expressed from a 0.85-kb mRNA present late in lytic KSHV replication in BC-1 cells. This transcript was sensitive to phosphonoacetic acid and phosphonoformic acid, inhibitors of herpesvirus DNA replication. KSHV sVCA expressed in mammalian cells or Escherichia coli or translated in vitro was recognized as an antigen by antisera from KS patients. Rabbit antisera raised to KSHV sVCA expressed in E. coli detected a 22-kDa protein in KSHV-infected human B cells. Overexpressed KSHV sVCA purified from E. coli and used as an antigen in immunoblot screening assay did not cross-react with EBV BFRF3. Antibodies to sVCA were present in 89% of 47 human immunodeficiency virus (HIV)-positive patients with KS, in 20% of 54 HIV-positive patients without KS, but in none of 122 other patients including children born to HIV-seropositive mothers and patients with hemophilia, autoimmune disease, or nasopharyngeal carcinoma. Low-titer antibody was detected in three sera from 28 healthy subjects. Antibodies to recombinant sVCA correlate with KS in high-risk populations. Recombinant sVCA can be used to examine the seroepidemiology of infection with KSHV in the general population.
AIDS-Related Opportunistic Infections↗
Sp1 binds to the precise locus of end processing within the terminal repeats of Epstein-Barr virus DNA.
Interconversion between the linear genome of Epstein-Barr virus (EBV) present in virions and intracellular circular EBV DNA is a novel DNA recombination process. A previously characterized DNA binding activity called terminal repeat or tandem repeat binding protein (TRBP) was found to recognize several G-rich recombinogenic sequences in the EBV genome and in cellular DNA. TRBP was also found to be an autoantigen recognized by sera from certain patients with undifferentiated connective-tissue disorders. Here the transcription factor Sp1 has been identified as a component of TRBP and has been shown to be an autoantigen. Sp1 bound to recombination junctions of EBV DNA, such as those in the terminal repeats and in the large internal repeats, as well as to recombinogenic regions of cellular DNA, such as variable-number tandem repeats and switch regions of the immunoglobulin genes. We defined the ends of the linear EBV genome present in virions and showed that Sp1 binds to the sequence (GGGGTGGGGCATGGG) within EBV terminal repeats at the precise locus of interconversion of linear and circular viral DNA. Sp1 may be involved in DNA recombination.
Animals↗
Supervised adaptive Hamming net for classification of multiple-valued patterns.
A Supervised Adaptive Hamming Net (SAHN) is introduced for incremental learning of recognition categories in response to arbitrary sequences of multiple-valued or binary-valued input patterns. The binary-valued SAHN derived from the Adaptive Hamming Net (AHN) is functionally equivalent to a simplified ARTMAP, which is specifically designed to establish many-to-one mappings. The generalization to learning multiple-valued input patterns is achieved by incorporating multiple-valued logic into the AHN. In this paper, we examine some useful properties of learning in a P-valued SAHN. In particular, an upper bound is derived on the number of epochs required by the P-valued SAHN to learn a list of input-output pairs that is repeatedly presented to the architecture. Furthermore, we connect the P-valued SAHN with the binary-valued SAHN via the thermometer code.
Artificial Intelligence↗
Comparison of intravenous granisetron with metoclopramide plus dexamethasone in the prevention of nausea and vomiting associated with emetogenic cytotoxic chemotherapy.
Fifty-one patients who received their first course of chemotherapy were studied to compare the respective efficacy and safety of granisetron and metoclopramide plus dexamethasone in the prevention of nausea and vomiting induced by emetogenic cytotoxic drugs. The results showed the response rate of antiemesis in the first 24 hours was higher in the metoclopramide plus dexamethasone group than in the granisetron group: 95% vs 84%. For the next six days of the study period, the response rate of the granisetron group was shown to be more effective than that of metoclopramide plus dexamethasone group: 77% vs 60%. Furthermore, the granisetron seemed to display enhanced tolerability with less drug-related side effects and no extrapyramidal effects which appeared in 2 cases of the metoclopramide plus dexamethasone group. In conclusion, a single dose of granisetron can be as effective as the gold standard of metoclopramide plus dexamethasone regimen in preventing and treating acute nausea and vomiting. For preventing delayed nausea and vomiting, granisetron is shown to be more effective than metoclopramide plus dexamethasone.
Adult↗
The binge eating and emotional change in a patient with postinfectious encephalomyelitis.
Postinfectious encephalomyelitis is a kind of demyelinating disease with pathological characteristics and a monophasic clinical course. Herein, we describe a patient who had the symptoms of binge eating, fatigue, memory impairment, hypotalkativeness, hypoactivity, lethargy, incoherent speech, dysphoric mood, and episodic disorientation. Only elevation of CSF protein was noted upon initial admission; however, blurred vision of the eyes developed progressively after discharge. A magnetic resonance image (MRI) scanning of the brain demonstrated scattered lesions of low signal intensity on T1-weighted images and high areas on T2-weighted images in the left thalamus, bilateral hypothalamus and midbrain. The findings of MRI image, CSF, and clinical course all suggested postinfectious encephalomyelitis. After a treatment of prednisolone, a follow-up MRI revealed evidence of improvement, and the binge eating also improved.
Adult↗
High dose chemotherapy with peripheral blood stem cells transplantation in patients with relapsed or refractory lymphomas preliminary reports.
High dose chemotherapy with peripheral blood stem cells transplantation (PBSCT) has been used worldwide in the treatment of patients with various hematological malignancies and other solid tumors. It has just come into use as a salvage therapy in various malignancies in Taiwan in recent years. We report eight cases with relapsed or refractory lymphoma treated with high dose chemotherapy and PBSCT. Our results showed all cases but one achieved complete remission. The mean days of white cell recovery were 10 days to > 500/microliter (ranges, 8-16 days) and 12 days to > 1,000/microliter (ranges, 9-19 days). The mean days to platelet transfusion independent, i.e. platelet > 20,000/microliters, was 14 days. No specific side effect was noted except death in one case on D+9 during cytopenia state. Four patients relapsed and died during the follow-up after PBSCT. From our preliminary results we suggest that high dose chemotherapy with PBSCT could be used as a salvage therapy in patients with relapsed or refractory lymphomas with favorable and sustained hematological recovery. Most cases were tolerable with myeloablative chemotherapy and re-achieved remission, however, remission duration was still short and relapse remained the main problem to be overcome. The long term effects of high dose chemotherapy with PBSCT still need further study.
Adolescent↗
[Multiple myeloma with oral manifestations--report of two cases].
Multiple myeloma is a neoplastic disorder of bone that originates from cells of bone marrow. It is most commonly seen within the age range of 50-80 years, cases under the age of 40 being rare. Men are affected more frequently than are women. Bone pain is the cardinal clinical symptom in multiple myeloma. Because of the destruction of bone, pathologic fracture is fairly common. In the oral manifestations, the mandible is involved far more frequently than the maxilla, especially the most active hematopoietic areas-the remus, angle and molar region of the mandible. Other signs and symptoms of jaw involvement include swelling, pain, and increased tooth mobility. Extraosseous lesions may result in paresthesia of soft tissue and gingival enlargement with bleeding tendency. Roentgenographic examination will usually reveal numerous punched-out lesions in a variety of bones. In addition, blood examination will reveal hyperglobulinemia and Bence-Jones protein may be present in the urine of myeloma patients. The histological features of myeloma are closely packed cells resembling plasma cells. Case 1 in this report is a 64-year-old female, who has been diagnosed as having multiple myeloma (IgG, lambda). She was referred to our hospital because of gingival swelling, bleeding and pain. Case 2 is a 60-year-old female suffering from spontaneous gingival bleeding. After blood, urine examination and bone marrow biopsy, multiple myeloma was diagnosed (IgG, lambda). This paper reports the clinical manifestations and treatment courses of these two cases, and the concerns of treatment of multiple myeloma are also discussed.
Female↗
Polyadenylylated nuclear RNA encoded by Kaposi sarcoma-associated herpesvirus.
A newly recognized gamma herpesvirus known as Kaposi sarcoma-associated herpesvirus (KSHV) or human herpesvirus 8 (HHV8) is present in Kaposi sarcomas and body-cavity-based lymphomas. Here we identify a novel abundant 1.2-kb RNA, polyadenylated nuclear RNA (PAN RNA), encoded by the virus. The majority of cDNAs produced from poly(A)-selected RNA isolated from a human body cavity lymphoma cell line 48 hr after butyrate induction of KSHV lytic replication represented PAN RNA. Within PAN RNA were two 9 and 16 nt stretches with 89% and 94% identity to U1 RNA. A third stretch of 14 nt was 93% complementary to U1. The 5' upstream region of PAN RNA contained both proximal and distal sequence elements characteristic of regulatory regions of U snRNAs, whereas the 3' end was polyadenylylated. PAN RNA was transcribed by RNA polymerase II, lacked a trimethylguanosine cap, and did not associate with polyribosomes. PAN RNA formed a speckled pattern in the nucleus typical of U snRNAs and colocalized with Sm protein. Therefore, PAN represents a new type of RNA, possessing features of both U snRNA and mRNA.
Base Sequence↗
Purification and characterization of a glycerol oxidase from Penicillium sp. TS-622.
A novel extracellular glycerol oxidase was purified 39-fold from wheat bran culture of a soil-isolated Penicillium strain TS-622 with an overall yield of 3%. The addition of Triton X-100 into the extraction buffer improved the extraction yield by 90 times, indicating that the enzyme is bound to the cell surface. The molecular weight of this enzyme was 400,000 as determined by size-exclusion high-performance liquid chromatography. The optimum pH was from 6 to 7 and the optimum temperature was 45 degrees C. This enzyme showed high specificity toward dihydroxyacetone and glycerol. It was inhibited by KCN, NaN3, and hydroxylamine.
Chromatography, High Pressure Liquid↗
Purification and partial characterization of an alkaline lipase from Pseudomonas pseudoalcaligenes F-111.
An extracellular alkaline lipase of alkalophilic Pseudomonas pseudoalcaligenes F-111 was purified to homogeneity. The apparent molecular weight determined by sodium dodecyl sulfate-polyacrylamide gel electrophoresis was 32,000, and the isoelectric point was 7.3. With p-nitrophenyl esters as its substrates, the enzyme shows preference for C12 acyl and C14 acyl groups. It was stable in the pH range of 6 to 10, which coincides with the optimum pH range.
Amino Acid Sequence↗
Induction therapy of newly diagnosed acute nonlymphocytic leukemia with idarubicin and cytosine arabinoside--the Taiwan experience.
From October 1993 to December 1994, 26 patients with newly diagnosed and untreated acute nonlymphocytic leukemia (ANLL) received induction chemotherapy with the 3 + 7 regimen, i.e., idarubicin (IDA) 12 mg/m2/d for 3 days any cytosine arabinoside (Ara-C) 100 mg/m2/d for 7 days. Complete remission (CR) was achieved in 80.8% of the whole group and in 66.7% (two of three) of the elderly subgroup (age > or = 60 years). Seventeen patients achieved a CR after only one course, whereas four needed two courses. Toxicity was tolerable. All of the patients experienced myelosuppression, and infection episodes were noted in all except one patients. Other toxicities included vomiting (62%, mostly mild to moderate, grade I/II), diarrhea (46%, mostly grade I), mucositis (65%, mostly grade I), and alopecia (100%). None presented with liver dysfunction or cardiotoxicity. Of the 21 complete responders, one refused further consolidation, 20 received either two additional courses of IDA/Ara-C or high-dose Ara-C as consolidation, and one died of infectious complications during consolidation. As of May 1995, nine had relapsed, and 11 (55%) continued in CR for 6 to 21 months (median, 14.5). All four patients who needed two courses of IDA/ Ara-C to achieve remission had relapsed, with either high-dose Ara-C or allogeneic bone marrow transplantation (BMT) as postremission therapy. We suggest that induction failure with one course of IDA/Ara-C is a poor prognostic factor in ANLL.
Adult↗
Decreased bone mineral density in premenopausal patients with systemic lupus erythematosus.
To study bone mineral density (BMD) in premenopausal adult female patients with systemic lupus erythematosus (SLE) and its relation with clinical parameters, 56 SLE patients (mean age 31 years, mean disease duration 6.3 years) and 15 normal controls were studied. BMD at the lumbar vertebrae (L2-L4) was measured by dual energy X-ray absorptiometry (DEXA). Classification of BMD was made according to the WHO criteria in 1994. Correlation between BMD and clinical parameters was calculated. It was found BMD in the SLE patients (0.942 +/- 0.136 g/cm2) was lower than in the control group (1.055 +/- 0.080 g/cm2) (P < 0.01). According to the WHO criteria, 17 patients (30%) had normal BMD, 22 patients (40%) had osteopenia and 17 patients (30%) had osteoporosis. BMD was inversely correlated with disease duration in SLE patients (p < 0.005). The minimal disease duration for a female SLE patient to develop osteopenia was 3.5 years. In conclusion, SLE patients have lower lumbar BMD than normal controls. SLE patients with longer disease duration have lower BMD. In order to achieve early prevention of osteoporosis, we suggest that female SLE patients with disease duration for more than 3.5 years should take a BMD examination.
Adult↗
Clinical manifestations, microbiology and prognosis of 42 patients with necrotizing fasciitis.
Forty-two cases of necrotizing fasciitis (NF) surgically confirmed between January 1991 and October 1995 were retrospectively reviewed. This was done in order to describe the underlying diseases, clinical presentations, etiology and outcome of NF and to assess the prognostic value of a simplified severity scoring system. The system scores changes in consciousness status, body temperature, blood pressure and ventilation to determine the likely outcome of NF. Twenty-five men and 17 women with a median age of 51 years (range, 17-87 yr) were included. Diabetes mellitus (57.1%) was the most common underlying disease. The mean duration of symptoms before admission was 8 days (median, 7 d; range, 1-30 d). The extremities (66.7%) were most commonly involved. Initial clinical presentations within 48 hours of admission included skin erythema and swelling at the affected site (97.6%), pyrexia (61.9%), hypotension (33.3%), altered consciousness (28.6%), bullous lesions (26.2%) and crepitus (9.5%). The mean number of isolated pathogens was 1.8 (range, 0-6). Eight patients had mixed aerobic and anaerobic infections. The attributable case fatality rate was 23.8%. Higher severity score (> or = 4 points), hypotension, altered consciousness, respiratory failure requiring ventilator support, elevation of alanine aminotransferase levels > twofold, serum creatinine > 177 mumol/L, thrombocytopenia (< 100 x 10(9)/L), and worsening symptoms and signs within 48 hours of admission were associated with higher fatality rates (p < 0.05).
Adolescent↗
Characterization of Epstein-Barr virus DNase and its interaction with the major DNA binding protein.
Bacterially expressed Epstein-Barr virus (EBV) DNase was purified to 98% purity and used as the source for characterization of the enzyme activities. Complete digestion of DNA by EBV DNase yielded 5'-monophosphate nucleosides as the final products. During the logarithmic phase of the reaction, EBV DNase acted processively on dsDNA but distributively on ssDNA. Both 5' to 3' and 3' to 5' exonuclease activities were present, although the former was shown to be 10-fold stronger. No significant discrepancy was seen in the liberation of end-labeled nucleotides by DNase when substrates with 5'-protruding, blunt, or 3'-protruding ends were used. EBV DNase was demonstrated also to have an endonuclease activity using supercoiled plasmid DNA as substrate. Two preferential dsDNA cleavage sites were mapped on pBS-TR, a pBlueScript vector containing one copy of the EBV terminal repeat; both are in vector sequences. Finally, an N-terminally truncated EBV major DNA binding protein, but not EA-D, was shown to inhibit EBV DNase activity. This inhibitory effect may due to direct protein-protein interactions between EBV DNase and the major DNA binding protein. The biological significance of these characteristics is discussed.
Antigens, Viral↗