ABSTRACT
Objective To detect the mutations in ATP2C1 gene of 5 sporadic patients with Hailey-Hailey disease (HHD).Methods Five sporadic patients with HHD collected from the outpatient clinic setting were recruited into this study with informed consent.Blood samples were taken from all patients and 100 unrelated human controls.and DNA was extracted from these samples.Mutation scanning was carried out for ATP2C1 gene by polymerase chain reaction (PCR) and direct sequencing.Results The diagnosis of all cases was confirmed by typical clinical manifestation,cutaneous pathology and immunofluorescence pathology.Five novel mutations.including a deletion mutation (2025delG),three missence mutations (L269R,C348R,A651D) and a non-sense mutation (Q259X) were identified in these cases.No mutations were detected in any of the 100 controls.Conclusion Five novel mutations in ATP2C1 gene have been identified for Hailey-Hailey disease.
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the expressions of cyclin E, cyclin dependent kinase 2 (CDK-2) and cyclin-dependent kinase inhibitor p57(KIP2) in human gastric cancer, and to evaluate the relationships between protein levels and clinicopathological parameters.</p><p><b>METHODS</b>Western blot was used to measure the expressions of cyclin E, CDK-2 and p57(KIP2) proteins in the surgically resected gastric carcinoma, adjacent normal mucosa and metastatic lymph nodes from 36 patients.</p><p><b>RESULTS</b>Cyclin E and CDK-2 protein levels were higher in gastric cancer tissues in comparison with normal tissues (P < 0.05). Overexpression of cyclin E was correlated with lymph node involvement, poor histological grade and serosa invasion (P < 0.05). Overexpression of CDK-2 was correlated with lymph nodes involvement (P < 0.05). No statistically significant difference between cyclin E and CDK-2 expression was found when samples were stratified according to tumor size (P > 0.05). Expression of cyclin E and CDK-2 showed a positive linear correlation (r = 0.451, P = 0.01). Protein levels of p57(KIP2) were lower in gastric cancer tissues than in the normal mucosa (P < 0.05). Decreased expression of p57(KIP2) was correlated with lymph node involvement (P < 0.05). No statistically significant difference in p57(KIP2) expression was found when sample were stratified according to tumor size, histological grade or serosa invasion (P > 0.05). In metastatic lymph nodes, expression of cyclin E was increased and the expression of p57(KIP2) decreased.</p><p><b>CONCLUSION</b>Overexpressions of cyclin E, CDK-2 and downregulated expression of p57(KIP2) may play important roles in tumorigenesis and metastatic potential of gastric cancer.</p>
Subject(s)
Humans , Blotting, Western , CDC2-CDC28 Kinases , Cyclin E , Physiology , Cyclin-Dependent Kinase 2 , Cyclin-Dependent Kinase Inhibitor p57 , Cyclin-Dependent Kinases , Physiology , Lymphatic Metastasis , Nuclear Proteins , Physiology , Protein Serine-Threonine Kinases , Physiology , Stomach Neoplasms , Chemistry , PathologyABSTRACT
<p><b>OBJECTIVE</b>To investigate the expression of extracellular signal-regulated kinase (ERK) and its relationship with clinicopathological characteristics of breast cancer as well as the effect of preoperative chemotherapy on ERK expression.</p><p><b>METHODS</b>Expression of ERK-1 and ERK-2 protein was examined by Western blot in the breast cancer and normal breast (control) tissue of 48 patients, of whom 8 had received preoperative chemotherapy of 5'-deoxy-5-fluorouridine (5'-DFUR), with distribution of ERKs protein detected by immunohistochemical method.</p><p><b>RESULTS</b>Expression of ERK-1 and ERK-2 protein was increased in tumor specimen as compared with control tissue (P < 0.01). A positive correlation was observed between ERK-1 and ERK-2 (r = 0.457, P < 0.01). Protein level of ERK-1 and ERK-2 was higher in stage III patients than in stage I and stage II patients (P < 0.05). Expression of both ERK-1 and ERK-2 in the carcinoma tissue was decreased in patients who had received preoperative chemotherapy of 5'-DFUR. ERK-1 and ERK-2 proteins were mainly located in the cytoplasm.</p><p><b>CONCLUSION</b>The hyperexpression of ERK may play an important role in the initiation and development of human breast cancer. Preoperative chemotherapy of 5'-DFUR is able to partially inhibit ERK expression.</p>
Subject(s)
Female , Humans , Antimetabolites, Antineoplastic , Therapeutic Uses , Breast Neoplasms , Classification , Drug Therapy , Pathology , Floxuridine , Therapeutic Uses , Mitogen-Activated Protein Kinase 1 , Mitogen-Activated Protein Kinase 3 , Mitogen-Activated Protein Kinases , Neoplasm StagingABSTRACT
Objective To observe the efficacy and safety of lamivudine in the treatment of HBV infection. Methods 237 cases of HBV infection were divided into two groups randomly. 128 patients of group A were administered lamivudine 150mg a day for 48 weeks and routine nonspecific drugs. 109 patients of group B were administered only routine nonspecific drugs. HBV serological markers, HBV DLT and ALT were measured at 8th,16 th 24th,48th week. Results In the group A, HBV DNA negative conversion rates at 8th,16th,24th and 48th weeks after treatment were 52 3%,82 0%,96 1% and 89 1% respectively, which were higher than those in the group B(P