Actins ; analysis ; Antigens, CD34 ; analysis ; Carcinoma, Papillary ; classification ; metabolism ; pathology ; Female ; Humans ; Immunohistochemistry ; Keratin-19 ; analysis ; Keratin-20 ; analysis ; Muscle, Smooth ; chemistry ; Pancreatic Neoplasms ; classification ; metabolism ; pathology ; Proto-Oncogene Proteins c-kit ; analysis ; Receptors, Estrogen ; analysis ; Receptors, Progesterone ; analysis

OBJECTIVETo investigate the splice variants of the calpain 3 gene existing in human skeletal muscle tissue and white blood cells, and to explore the feasibility of gene diagnosis using CAPN3 mRNA extracted from peripheral leukocytes.

METHODSTotal RNA was extracted from peripheral blood and skeletal muscle tissue in healthy individuals. CAPN3 cDNAs were determined by reverse transcriptase polymerase chain reaction and DNA sequencing. CAPN3 cDNAs from peripheral leukocytes were compared with sequences obtained from skeletal muscle tissue.

RESULTSRT-PCR and DNA sequencing showed that the CAPN3 cDNAs comprised 24 exons in human skeletal muscle tissue, while the number of exons was 23 in white blood cells. Exon 15 was spliced out in human white blood cells.

CONCLUSIONSplice variants exist in human skeletal muscle tissue and white blood cells. Gene diagnosis may omit the mutations of exon 15 using mRNA extracted from peripheral leukocytes. These findings suggest that mutation analysis of the CAPN3 cDNA should use skeletal muscle tissue as materials instead of peripheral blood.

Calpain ; genetics ; DNA Mutational Analysis ; DNA, Complementary ; genetics ; Exons ; genetics ; Humans ; Leukocytes ; metabolism ; Muscle Proteins ; genetics ; Muscle, Skeletal ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction

OBJECTIVETo study the clinicopathologic features and differential diagnosis of atypical teratoid/rhabdoid tumor (AT/RT) occurring in the central nervous system.

METHODSTwo cases of AT/RT were studied by hematoxylin-eosin, reticulin and immunohistochemical staining. The clinical and pathologic features were analyzed and the literatures reviewed.

RESULTSHistologically, AT/RT was characterized by the presence of rhabdoid cells associated with various degrees of primitive neuroectodermal, epithelial or mesenchymal differentiation. Abundant reticulin fibers and a complex immunophenotype were observed. The tumor cells were positive for vimentin, CD99, epithelial membrane antigen, cytokeratin, glial fibrillary acidic protein, S-100 protein, neurofilament, desmin and smooth muscle actin. They were negative for synaptophysin, MyoD1, placental alkaline phosphatase and HMB45.

CONCLUSIONSAT/RT is a highly malignant tumor occurring in the central nervous system. It manifests mainly in children and occasionally in adults. The tumor is characterized by a heterogeneous histologic and immunohistochemical phenotype. It needs to be distinguished from a number of central nervous system tumors, including medulloblastoma, primitive neuroectodermal tumor, germ cell neoplasm and rhabdoid meningioma.

12E7 Antigen ; Actins ; analysis ; Adult ; Antigens, CD ; analysis ; Brain Neoplasms ; metabolism ; pathology ; Cell Adhesion Molecules ; analysis ; Child, Preschool ; Desmin ; analysis ; Glial Fibrillary Acidic Protein ; analysis ; Humans ; Immunohistochemistry ; Keratins ; analysis ; Male ; Mucin-1 ; analysis ; Muscle, Smooth ; chemistry ; Neurofilament Proteins ; analysis ; Rhabdoid Tumor ; metabolism ; pathology ; S100 Proteins ; analysis ; Teratoma ; metabolism ; pathology ; Vimentin ; analysis

OBJECTIVESTo investigate the relationship between the expression of transgelin-2 and the clinicopathological factors of colorectal carcinoma and evaluate the value of transgelin-2 in prognostic assessment of the colorectal cancer patients.

METHODSUsing tissue microarray and immunohistochemical methods, we examined transgelin-2 of 120 colorectal cancer patients received surgical treatment from September 2002 to April 2004, including 74 male and 46 female, age from 26 to 89 years. Analyzed the relationship between transgelin-2 and both the clinicopathological features and prognosis of the colorectal cancer by using χ² test and Kaplan-Meier survival analysis. Cox proportion hazard regression analysis was used to study the independent prognostic factors.

RESULTSThe positive rate of transgelin-2 expression was 69.2% in colorectal carcinoma. The transgelin-2 expression correlated with differentiation degree (χ² = 5.420), lymph nodes metastasis (χ² = 45.577), distant metastasis (χ² = 12.009), and TNM staging (χ² = 47.577). The survival time was (39 ± 5) months in patients with positive expression of the transgelin-2, while (59 ± 3) months in patients with negative expression. The patient's survival time was statistically correlated with the transgelin-2 expression (P = 0.003). Distant metastasis (RR = 8.318, 95%CI: 4.119 - 16.790), lymph nodes metastasis (RR = 2.794, 95%CI: 1.246 - 6.263) and transgelin-2 expression (RR = 1.834, 95%CI: 1.118- 2.973) were independent prognostic factors in patients with colorectal cancer (P < 0.05).

CONCLUSIONSThe expression of transgelin-2 is correlated with clinicopathological features and prognosis in colorectal cancer, may be the potential marker of metastasis and the prognosis of colorectal cancer patients.

Adult ; Aged ; Aged, 80 and over ; Colorectal Neoplasms ; metabolism ; pathology ; Female ; Humans ; Kaplan-Meier Estimate ; Male ; Microfilament Proteins ; metabolism ; Middle Aged ; Muscle Proteins ; metabolism ; Prognosis ; Regression Analysis

Recent genetic and immunohistochemical analyses have shown that Miyoshi myopathy (MM) is caused by a mutation in the DYSF gene, which induces dysfunction of dysferlin. The author described one patient showing characteristic MM phenotype with deficiency of dysferlin on immunohistochemistry. Direct DNA sequencing of whole exons of DYSF gene revealed one homozygous missense mutation (G1165C) on exon 12, which let to an amino acid substitution from the glutamic acid to glutamine at the 389 of the peptide sequence in this patient. This is the first reported case of MM confirmed by immunohistochemical and genetic analyses in Korea.
Adult ; Caveolins/analysis ; Distal Myopathies/*genetics ; Humans ; Immunohistochemistry ; Male ; Membrane Proteins/chemistry/*genetics ; Muscle Proteins/chemistry/*genetics ; *Mutation ; Research Support, Non-U.S. Gov't

OBJECTIVETo report the first case of primary epithelial-myoepithelial carcinoma (EMC) in the liver.

METHODSThe clinical manifestations, imaging characteristics, and histopathological changes of EMC in this case were described. The patient was a thirty-seven-year old female. A 10 cm lesion was detected in the right liver upon a routine examination. Following that, the CT scan, magnetic resonance imaging (MRI), repeated puncture biopsies, and serum alpha-fetoprotein (AFP) detection were done with no specificity and significance found.

RESULTSRight hemi-hepatectomy was performed. The special double catheterization cannula was found in the histopathological examination, and the final diagnosis of EMC was proven by immuno-histochemical staining.

CONCLUSIONSPrimary EMC is difficult to be finally diagnosed prior to the surgery. The diagnosis can be confirmed using pathological examination and immuno-histochemical staining of the specimen.

Actins ; analysis ; Adult ; Carcinoma, Hepatocellular ; diagnosis ; metabolism ; surgery ; Female ; Hepatectomy ; methods ; Humans ; Immunohistochemistry ; Liver Neoplasms ; diagnosis ; metabolism ; surgery ; Muscle, Smooth ; chemistry ; Myoepithelioma ; diagnosis ; metabolism ; surgery ; S100 Proteins ; analysis

OBJECTIVETo investigate the effect and mechanism of arsenic trioxide (As(2)O(3)) on the prevention of restenosis after vascular injury.

METHODSApoptosis induction of As(2)O(3) on cultured rabbit vascular smooth muscle cells (VSMCs) in vitro was observed. Thirty-two New Zealand white rabbits were randomly divided into 2- and 4-wk study groups, and their controls. 10% As(2)O(3) at 2.5 mg x Kg(-1) x d(-1) or 0.9% sodium chloride was intraperitoneally infused for 3 days before left common carotid arteries were denudated with a balloon. After denudation 2- and 4-wk animals were sacrificed for morphometry and immunohistochemical studies on carotid arteries, and for histopathology on liver and kidney.

RESULTSIt was shown via cellular morphology and DNA fragments in electrophoresis that promotion of As(2)O(3) on cultured vascular smooth muscle cell apoptosis was dependent upon its concentration and duration. Compared with the control animals, the mean vascular intimal proliferation areas were reduced in 2-wk study animals (P < 0.05) and no difference was shown in 4-wk (P > 0.05), while the mean vascular luminal areas were all enlarged in both study groups (all P < 0.05). The downregulated bcl-2 expression (all P < 0.05 in 2- and 4-wk) and the upregulated bax expression (P < 0.01 in 2-wk; P < 0.05 in 4-wk) were detected by immunohistochemistry, in comparison with control groups. Gene bcl-2 and bax protein expression were consistent with the suppression of intimal proliferation and the enlargement of luminal areas in corresponding sections.

CONCLUSIONAs(2)O(3) induces apoptosis of VSMCs and inhibits experimental restenosis effectively after artery injury, via downregulation of bcl-2 and upregulation of bax expression.

Animals ; Apoptosis ; Arsenicals ; pharmacology ; DNA ; analysis ; Female ; Flow Cytometry ; Male ; Muscle, Smooth, Vascular ; cytology ; drug effects ; Oxides ; pharmacology ; Proto-Oncogene Proteins ; analysis ; Proto-Oncogene Proteins c-bcl-2 ; analysis ; Rabbits ; Vascular Diseases ; prevention & control ; bcl-2-Associated X Protein

Prader-Willi syndrome is caused by absence of paternal contribution of chromosome region 15q11-q13. PWS is clinically suspected and can be confirmed by laboratory tests. It is accepted that DNA methylation analysis is very useful screening test and FISH with specific probe can be used for deletion detection for PWS. In clinically suspected PWS patients, we conducted two genetic tests, FISH with SNRPN probe and SNRPN expression study with RT-PCR. We found discordance in one patient. This PWS male presented with severe obesity, hypogonadism and typical appearance with the history of neonatal hypotonia and feeding problems. The FISH showed the microdeletion in 15q11-q13 as expected, but the result of SNRPN expression was positive. We reviewed FISH and observed normal cells without deletion. Methylation analysis is not sensitive enough to identify cases of mosaic PWS. So, when the molecular screening is negative, precise clinical examination is essential and other cytogenetic analysis like FISH should be combined.
Cytogenetic Analysis ; DNA Methylation ; Humans ; Hypogonadism ; In Situ Hybridization, Fluorescence* ; Male ; Mass Screening ; Methylation ; Mosaicism* ; Muscle Hypotonia ; Obesity, Morbid ; Prader-Willi Syndrome ; snRNP Core Proteins

PURPOSE: The purpose of this study was to examine the effects of cerebral ischemia on Type I(soleus) and Type II(plantaris, gastrocnemius) muscles, and to determine the effects of isometric contraction training by electrostimulation on Type I andII muscles in cerebral ischemia model rats. METHOD: Twenty-five male Sprague-Dawley rats were randomly divided into four groups: ST(stroke), STES(stroke+electrostimulation), SH(sham) and SHES (sham+electrostimulation). The ST and STES groups received a transient right middle cerebral artery occlusion operation. The SH and SHES groups received a sham operation. The STES and SHES groups had daily isometric contraction training by electrostimulation(100Hz, 45mA, 7.5V) on hindlimb muscles for 7days. RESULT: Plantaris and gastrocenmius muscle weight, myofibrillar protein contents of soleus and gastrocnemius, and the muscle fiber cross-sectional area of gastrocnemius in the ST group significantly decreased compared with the SH group. Soleus, plantaris, gastrocnemius muscle weight, myofibrillar protein contents of soleus and gastrocnemius, and the Type I muscle fiber cross-sectional area of soleus and the Type II muscle fiber cross-sectional area of gastrocnemius in the STES group significantly increased compared with the ST group. CONCLUSION: Hindlimb muscle atrophy occurs after acute stroke and isometric contraction training by electrostimulation during early stages of a stroke attenuates muscle atrophy of Type I and Type II muscles.
Animals ; Body Weight ; Brain Ischemia/*complications ; Disease Models, Animal ; Electric Stimulation ; Hindlimb ; *Isometric Contraction ; Male ; Muscle Proteins/analysis ; Muscle, Skeletal/metabolism/pathology/*physiopathology ; Muscular Atrophy/*etiology/pathology/physiopathology ; Myofibrils/chemistry ; Rats ; Rats, Sprague-Dawley ; Stroke/*complications

OBJECTIVE: To explore the molecular mechanism of human corpus myometrium contraction related proteins and parturition. METHODS: The proteins of human corpus of myometrium tissues from full term non-in labor (38- 41 weeks amenorrhea) and full term in labor (38-41 weeks amenorrhea) gravidas were separated by 2-dimensional gel electrophoresis (2-GE), respectively. Then gels were stained by Coomassie brilliant blue G250, scanned by Image scanner and analyzed with PDQuest software. The differentially expressed protein spots of corpus myometrium between the 2 groups were identified by peptide mass finger print based on matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF-MS) and database searching. Three identified differentially expressed proteins were confirmed by Western blot. RESULTS: Well resolved and reproducible 2D-GE maps of human corpus myometrium from non-in labor and in-labor gravidas were acquired. Twenty more than 2-fold differentially expressed protein spots were identified by MALDI-TOF-MS. These proteins were involved in cell structure, calcium binding, chaperone, energy metabolism, signal transduction, and antioxidant. CONCLUSION Twenty contraction related proteins of human corpus myometrium have been identified, indicating that cell structure and calcium-binding are important reasons for the contraction of human corpus myometrium.
Blotting, Western ; Electrophoresis, Gel, Two-Dimensional ; Female ; Humans ; Labor, Obstetric ; physiology ; Mass Spectrometry ; Muscle Contraction ; Muscle Proteins ; analysis ; Myometrium ; physiology ; Pregnancy ; Proteomics ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization