OBJECTIVETo identify a rare transcription mutation (C-->T) at position -90 of the beta-globin gene previously unreported in the beta-thalassemia carriers from a Chinese family.

METHODSIn phenotype analysis, standard hematological techniques were used to measure RBC counts and Hb concentration. Reverse dot blot (RDB) analysis, which can simultaneously detect 18 known types of beta-thalassemia mutations in Chinese, was used to scan beta-globin gene mutations. DNA sequence analysis of the entire human beta-globin gene was performed to characterize the underlying causative mutation of the sample and to identify its genotype. A semi-quantitative RT-PCR method was used to measure beta-globin gene expression in the form of mRNA from the subjects.

RESULTSThe proband, his brother and his mother presented a typical beta-thalassemic trait with reduced mean corpuscular volume (MCV, 68.2-73.6 fL) and elevated level of Hb A(2) (5.7%-6.4%) but no known beta-thalassemia mutations were found in the samples by RDB analysis. DNA sequencing of the beta-gene region of these three samples revealed heterozygosity for the C-->T substitution at position -90 within proximal CACCC box of the beta-globin gene promoter element, which was previously unreported in the Chinese population. Analysis of mRNA from the positive carriers demonstrated that the mutant beta-globin gene significantly reduced beta-globin transcription (mutants: 2.233 +/- 0.01 vs normal: 3.779+/-1.19; 95%CI: 3.060, 4.499), showing a level comparable with that of the other beta-thalassemia heterozygotes (2.110+/-0.53, 95%CI: 1.732, 2.488).

CONCLUSIONA rare transcriptional mutation that led to beta-thalassemia in Chinese population has been characterized. The findings enrich knowledge of the mutation spectrum of beta-thalassemia.

Adult ; Female ; Globins ; genetics ; Humans ; Mutation ; Transcription, Genetic ; beta-Thalassemia ; genetics

Child, Preschool ; China ; Female ; Hepatitis A ; immunology ; prevention & control ; Hepatitis A Antibodies ; blood ; Hepatitis A Vaccines ; adverse effects ; immunology ; Humans ; Infant ; Male ; Safety ; Sampling Studies ; Vaccination ; Vaccines, Inactivated ; adverse effects ; immunology

INTRODUCTIONMost hepatocellular carcinomas (HCC) develop in a background of underlying liver disease including chronic hepatitis B. However, the effect of antiviral therapy on the long-term outcome of patients with hepatitis B virus (HBV)-related HCC treated with chemoembolization is unclear. This study aimed to evaluate the survival benefits of anti-HBV therapy after chemoembolization for patients with HBV-related HCC.

METHODSA total of 224 HCC patients who successfully underwent chemoembolization were identified, and their survival and other relevant clinical data were reviewed. Kaplan-Meier and Cox regression analyses were performed to validate possible effects of antiviral treatment on overall survival (OS).

RESULTSThe median survival time (MST) was 15.9 (95% confidence interval [CI], 9.5-27.7) months in the antiviral group and 9.6 (95% CI, 7.8-13.7) months in the non-antiviral group (log-rank test, P = 0.044). Cox multivariate analysis revealed that antiviral treatment was a prognostic factor for OS (P = 0.008). Additionally, a further analysis was based on the stratification of the TNM tumor stages. In the subgroup of early stages, MST was significantly longer in the antiviral-treatment group than in the non-antiviral group (61.8 months [95% CI, 34.8 months to beyond the follow-up period] versus 26.2 [95% CI, 14.5-37.7] months, P = 0.012). Multivariate analysis identified antiviral treatment as a prognostic factor for OS in the early-stage subgroup (P = 0.006). However, in the subgroup of advanced stages, MST of the antiviral-treated group was comparable to that of the non-antiviral group (8.4 [95% CI, 5.2-13.5] months versus 7.4 [95% CI, 5.9-9.3] months, P = 0.219). Multivariate analysis did not indicate that antiviral treatment was a significant prognostic factor in this subgroup.

CONCLUSIONAntiviral treatment is associated with prolonged OS time after chemoembolization for HCC, especially in patients with early-stage tumors.

Antiviral Agents ; Carcinoma, Hepatocellular ; Chemoembolization, Therapeutic ; Drug Therapy, Combination ; Hepatitis B virus ; Hepatitis B, Chronic ; Humans ; Liver Neoplasms ; Mortality ; Neoplasm Staging ; Prognosis ; Retrospective Studies

BACKGROUND: Hemorrhoids are one of the most common conditions that lead to surgery, and until now surgical hemorrhoidectomy has been the major effective treatment. Post-operative pain from hemorrhoidectomy has been experienced by thousands of patients and remains a major inconvenience of the operation. OBJECTIVE: This study evaluates the clinical efficacy of the pestle needle therapy, an acupoint stimulation method, for relief of post-hemorrhoidectomy pain. DESIGN, SETTING, PARTICIPANTS AND INTERVENTIONS: This was a single-center, patient-assessor-blinded and randomized controlled trial with 154 patients receiving Milligan hemorrhoidectomy surgery. Eligible patients were randomly assigned to either a treatment group or a control group at a ratio of 1:1. The treatment group received the pestle needle therapy, with manual stimulation at Yaoshu (DU2), Mingmen (DU4), Changqiang (DU1), Chengshan (BL57), Erbai (EX-UE2) and the perianal points (1, 3, 5, 7, 9, and 11o'clock around the lesion); while the control group received a sham treatment with very light pressure. Three sessions of treatment were performed at 30 min, 4 h and 12 h after the surgery, and each lasted for 15 min. MAIN OUTCOME MEASURES: The primary outcome was post-operative pain measured with the visual analogue scale (VAS) at 12 h after surgery. The secondary outcomes included the VAS scores measured at 0.5, 2, 4, 6, 8, 24 and 48 h after surgery, the analgesic dose, the time and the VAS score of the patients' first defecation after surgery, as well as the Hamilton Rating Scale for Anxiety (HAMA) evaluated before discharge. RESULTS: The mean pain score of the treatment group was significantly lower than that of the control group (3.10 ± 1.27 vs 4.82 ± 1.29; P < 0.001) at 12 h after surgery. Compared with the control group, patients in the treatment group needed a smaller dose of analgesic within the first 24 hours after surgery (P = 0.002); and their HAMA scores before discharge were lower (4.07 ± 2.40 vs 5.10 ± 2.45, P = 0.009). Compared to the treatment group, patients in the control group had a greater time to the first defecation after surgery ([52.34 ± 15.72] h vs [27.08 ± 13.68] h; P < 0.001), but there was no difference in their VAS scores at the first defecation (P = 0.092). CONCLUSION The pestle needle therapy was effective for relieving pain, reducing anxiety and improving bowel function after hemorrhoidectomy, and it is worthy of clinical application.