Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Blepharophimosis-ptosis-epicanthus inversus Psyndrome （BPES, OMIM # 110100） is a rare autosomal dominant disorder affecting the eyelid and ovarian development. When co-occurred together, it is type Ⅰ and when only the eyelid abnormalities are present, it is type Ⅱ. Both types had been mapped to the same locus 3q23 on the basis of cytogenetic rearrangements 1-3 and linkage analyses. 4-6 Subsequently,     

Clinical trial: percutaneous acetic acid injection vs. percutaneous ethanol injection for small hepatocellular carcinoma – a long-term follow-up study

Background  The long-term outcome of percutaneous acetic acid injection (PAI) and percutaneous ethanol injection (PEI) for treating small hepatocellular carcinoma (HCC) remains unclear.
Aim  To compare the long-term outcome of PAI vs. PEI for treating small HCC.
Methods  From July 1998 to July 2004, 125 patients with small HCC were enrolled. Seventy patients receiving PAI and 55 patients receiving PEI were enrolled. There were no significant differences in the clinical characteristics between the two groups. Tumour recurrence and survival rates were assessed.
Results  Mean follow-up time was 43 months. The local recurrence rate and new tumour recurrence rate were similar between the PAI and PEI groups. The PAI group had significantly better survival than the PEI group ( P  = 0.027). Multivariate analysis revealed that PAI was the significant factor associated with overall survival [PAI vs. PEI, RR: 0.639, 95% CI: (0.419–1.975), P  = 0.038]. The treatment sessions required to achieve complete tumour necrosis were significantly fewer in the PAI group than in the PEI group (2.4 ± 1.0 vs. 2.9 ± 1.3, P  = 0.018).
Conclusion  Percutaneous acetic acid injection required fewer treatment sessions than PEI and provided better survival after long-term follow-up.     

T lymphocyte function in patients with malignant biliary obstruction

Abstract The T lymphocyte function in 59 patients with malignant biliary obstruction undergoing pre-operative endoscopic drainage (group Ia, n = 24) or surgery (group Ib, n = 35) was evaluated by mitogen stimulation test with phytohaemagglutinin. The T lymphocyte function before endoscopic or surgical intervention was found to be impaired as compared with patients with gastric cancer (group II, n = 27) and with normal persons (group III, n = 19). Regression analysis showed a significant negative correlation between T lymphocyte function and the serum bilirubin level (correlation coefficient - 0.3, P = 0.01) and a positive correlation with serum albumin level (correlation coefficient 0.34, P = 0.01) and serum transferrin level (correlation coefficient 0.45, P = 0.001). After 18 ± 3 days of endoscopic biliary drainage, the T lymphocyte function of group Ia patients did not change substantially. At postoperative day 14, there were more patients in both groups Ia and Ib having deterioration of T lymphocyte function than those with improvement. The incidence of postoperative sepsis was found to be significantly higher in patients with deterioration than those with improvement of T lymphocyte function (18/31 vs 7/26, P = 0.036). It is concluded that endoscopic biliary drainage and surgery could not reverse the T lymphocyte dysfunction in patients with malignant biliary obstruction.     

Cryoablation versus Radiofrequency Ablation for Atrioventricular Nodal Reentrant Tachycardia: Patient Pain Perception and Operator Stress

Background: Cryoablation (CRYO) is an alternative to radiofrequency (RF) ablation in the treatment of atrioventricular nodal reentrant tachycardia (AVNRT). This study aims to evaluate the differences in patient pain perception and operator stress between CRYO and RF ablation in the treatment of AVNRT. Methods: Patients with supraventricular tachycardia underwent electrophysiology study. Twenty patients (eight males, age 46.5 ± 12.5 years) diagnosed with AVNRT were randomized to receive CRYO (11) with a 6‐mm‐tip catheter or RF (nine) with a 4‐mm‐tip catheter. Patients’ pain perception and operator stress were assessed with a visual analogue scale (VAS) from 0 to 10 at the end of procedure. Results: There was no significant difference in acute procedural success (CRYO 100% vs RF 89%, P = 0.257). There was no complication of permanent atrioventricular block in either group. The number of energy applications was significantly higher in the CRYO group (2.8 ± 1.2 vs 1.6 ± 0.9, P = 0.02). The fluoroscopic time was significantly reduced in the CRYO group (6.0 ± 4.9 vs 10.9 ± 5.4 minutes, P = 0.049) with no difference in procedure time (CRYO 49.3 ± 12.5 vs RF 54.5 ± 17.0 minutes, P = 0.462). Patients in the CRYO group experienced significantly less pain than patients in the RF group (VAS 2.3 ± 2.8 vs 5.4 ± 3.4, P = 0.024). The operator also experienced significantly less stress during CRYO than RF (VAS 1.9 ± 0.8 vs 6.2 ± 1.6, P < 0.001). There was no recurrence in both groups at 6‐month follow‐up. Conclusions: CRYO, as compared with RF, produces less pain in patients and less stress in operator in the treatment of AVNRT. (PACE 2011; 2–7)     

The psychopathological characteristics of treatment discontinuation group in 6‐month treatment with paliperidone ER

Objective: To examine the demographic and psychopathological characteristics of the treatment discontinuation group compared with patients who completed with paliperidone ER treatment for 6 months. Methods: A total of 984 patients meeting the DSM‐IV criteria for schizophrenia who switched their antipsychotics were recruited from 61 sites in five countries in Southeast Asia. The patients with early discontinuation were then compared with those who completed the 6‐month treatment in terms of demographic and psychopathological variables at baseline and also at the end of the evaluation period, which included PANSS score, sleep quality, daytime drowsiness, PSP score, ESRS score and clinical global impression‐severity (CGI‐S) score. Finally, logistic regression analysis was applied to determine predictive factors that were associated with discontinuation. Results: Of 984 patients, 284 patients (28.9%) discontinued without completing the 6‐month treatment period with paliperidone. Significant differences in patient baseline characteristics for the discontinuation group compared with the completion group were observed for gender, number of previous hospitalisations with psychosis, PANSS total score and all of its subscales, daytime drowsiness score, total ESRS score, CGI‐S, PSP and Insight. Patients who completed the study period had significantly better scores in all psychopathology variables compared with the discontinuation group at the end of the evaluation period. Numbers of previous hospitalisations because of psychosis, being exposed with first generation antipsychotics, gender and PANSS total scores were found to be significant predictors of discontinuation. Conclusion: Patients who discontinued early from a 6‐month treatment period with Paliperidone have some characteristic differences compared with completion patients. Many factors including frequent hospitalisations, female gender, high PANSS score (indicating more disease severity) and previous exposure to first generation of antipsychotic agent might lead patients to discontinue from treatment.