Myopathies associated with anti-signal-recognition particle (SRP) antibodies usually present with severe muscle weakness and exhibit necrotizing myopathy with little inflammation pathologically. Here we report a case of a 61-year-old man who presented with subacute progressive proximal muscle weakness, dysarthria, and dysphagia. Although polymyositis was expected clinically, muscle biopsy revealed myopathic changes with degenerating fibers without definite inflammation. Further laboratory study revealed that the patient was positive for anti-SRP antibodies.
Antibodies ; Autoantibodies ; Biopsy ; Deglutition Disorders ; Dysarthria ; Humans ; Inflammation ; Middle Aged ; Muscle Weakness ; Muscles ; Muscular Diseases ; Myositis ; Polymyositis ; Signal Recognition Particle

PURPOSE: The aim of this study was to classify breast carcinomas based on variations in gene expression patterns derived from cDNA microarrays and to correlate tumor characteristics to clinical outcome. METHODS: A total of 7 pairs of breast tumors and control tissues were taken at the time of primary surgery for array analysis. Then, performed microarray experiments in breast cancer tissues with the cDNA microarray spotted 3,063 clones of genes, were analyzed by hierachical clustering. RESULTS: Thirteen genes were over expressed in tumor samples regardless of their histopathological features and ER status, those were including, vitamin A responsive gene, proliferating cell nuclear antigen (PCNA), and signal transducer and activator of transcription 1 (STAT1). Twenty-four genes were down-regulated in tumor sites, those were including, discoidin domain receptor family mamber 2, crystallin alpha B, and myosin light polypeptide kinase. We also identified the differentially expressed genes between ER positive and negative tumors. PCNA, FLJ20500, STAT1, signal recognition particle 9 kD, and proteasome activator subunit 2 were more predominantly expressed in ER negatives. Serine protease 23, vitamin responsive gene, fibronectin 1, and SERPINA1 genes were more highly expressed in ER positive tumors. We further classified the patients according to their gene expression patterns with Cluster program. Clustering results divided patients into two distinct groups, the first group consists of only estrogen receptor (ER) negative tumors and they showed more higher gene expression levels of cell replication and cycle, invasion and metastasis, those considered poor prognosis signature. The other group mostly consists of ER positive tumors. CONCLUSION: These results support the feasibility and usefulness of this systematic approach to studying variation in gene expression patterns in human cancers as a means to dissect and classify solid tumors. We believe, this gene expression profile will outperform all currently available clinical parameters in predicting disease outcome.
Breast Neoplasms* ; Breast* ; Clone Cells ; Crystallins ; DNA, Complementary* ; Estrogens ; Fibronectins ; Gene Expression* ; Humans* ; Myosins ; Neoplasm Metastasis ; Oligonucleotide Array Sequence Analysis ; Phosphotransferases ; Prognosis ; Proliferating Cell Nuclear Antigen ; Proteasome Endopeptidase Complex ; Serine Proteases ; Signal Recognition Particle ; STAT1 Transcription Factor ; Transcriptome* ; Vitamin A ; Vitamins

PURPOSE: Extrahepatic biliary atresia is the most common indication for liver transplantation in children, but the etiology of this disorders remains unknown. It would be very signficant to identify genes that are specifically expressed in pathologic liver tissue of biliary atresia and analyze the pattern of expression in those genes. METHODS: We made dot blot panels consisting of 1,730 different EST (expressed sequence tags) clones which were isolated from human hair dermal papilla cell cDNA library. Liver tissues were taken from a recipient with biliary atresia and a normal donor during living-related liver transplantation. Total RNA was extracted from each sample and reversely transcribed to make cDNA. Then radiolabelled cDNA probe pools were made by random primed DNA labeling method and used for screening differentially expressed genes using EST dot blot panel. RESULTS: Among the total of 1,730 EST clones, 26 cDNA clones were overexpressed in biliary cirrhosis. They revealed homology to genes encoding bcl-w, laminin binding protein, hepatocyte growth factor-regulated tyrosine kinase substrate (HRS), thymosin beta-4, 10; transforming growth factor (TGF)-beta, tissue inhibitor of metalloproteinase (TIMP)-1, signal recognition particle (SRP)4, eukaryotic initiation factor (eIF)-2alpha kinase, lysyl oxidase, aldolase A, gamma-glutamylcystein synthetase, collagen type I alpha1, 2, collagen type III, fibronectin, osteonectin, insulin-like growth factor binding protein (IGFBP)-2, 3, and more. In addition, the expression of 2 clones showed that gastrula zinc finger protein and one novel gene were decreased in biliary atresia. CONCLUSOIN: This study identified differentially expressed genes in biliary cirrhosis from progressive biliary atresia using differential EST screening technique.
Biliary Atresia* ; Carrier Proteins ; Child ; Clone Cells ; Collagen Type I ; Collagen Type III ; DNA ; DNA, Complementary ; Fibronectins ; Fructose-Bisphosphate Aldolase ; Gastrula ; Gene Expression* ; Gene Library ; Hair ; Hepatocytes ; Humans ; Laminin ; Ligases ; Liver ; Liver Cirrhosis, Biliary* ; Liver Transplantation ; Mass Screening* ; Osteonectin ; Peptide Initiation Factors ; Phosphotransferases ; Protein-Lysine 6-Oxidase ; Protein-Tyrosine Kinases ; RNA ; Signal Recognition Particle ; Thymosin ; Tissue Donors ; Transforming Growth Factors ; Zinc Fingers