[Genetic analysis of a family with hereditary hemorrhagic telangiectasia caused by endoglin gene mutation].

Objective: To explore the genetic characteristics of a family with hereditary hemorrhagic telangiectasia (HHT) caused by endoglin (ENG) gene mutations. Methods: A total of 17 individuals from a 3-generation HHT family attending the First Affiliated Hospital of Dali University were selected as the research subjects. Clinical data and familial disease status of the HHT family proband were collected. Whole exome sequencing technology was used to screen for suspected pathogenic genes in the proband, and Sanger sequencing was used for family validation. Results: The proband and her mother had recurrent epistaxis and skin mucosal telangiectasia, and enhanced CT scans of the chest of the proband and her mother, daughter, and cousin indicated the presence of varying degrees of pulmonary arteriovenous malformations. The results of the full exon sequencing results showed that the proband carried the ENG gene c.579_599del non-shift deletion mutation, and Sanger sequencing showed that the mother, daughter, and cousin carried the same mutation. Conclusion: ENG gene c.579_ 599del mutation may be the genetic basis of HHT in this family.

[Advances in indocyanine green fluorescence imaging during hepatectomy].

While surgical operation is the preferred treatment for liver malignancies,the postoperative recurrence rate remains high. In the early 21st century,Japanese scientists first reported the use of indocyanine green(ICG) in liver resection. Follow-up studies also found its potential applications such as identifying tumors,determining surgical margins,delineating segmental boundaries,and preventing bile leakage. At present,ICG fluorescence imaging is applied to some types of hepatectomy with excellent effect and is expected to assist in generating surgical strategies for liver malignancies. However,its safety and efficacy still need further studies to evaluate.

[A prospective multi-center trial of non-interventional and observational study of lenalidomide in Chinese patients with multiple myeloma].

Objective: To evaluate the efficacy and safety of lenalidomide in a real-world clinical practice in Chinese patients with multiple myeloma (MM). Methods: It was a prospective, multi-center, observational study. A total of 165 consecutive patients with MM treated with lenalidomide-based regimens were enrolled in 12 hospitals from June 2013 to November 2015. Relevant information was recorded, such as baseline clinical data, cytogenetic abnormalities, treatment regimens, and duration of treatment, safety, and survival. Results: (1)There were 126 relapsed and refractory MM (RRMM) patients, 25 newly diagnosed patients and 19 maintenance patients. The evaluable RRMM patients accounted for 120 cases, among which 74 cases(61.7%) reached the partial response (PR) or above, and a very good partial response (VGPR) in 16 patients (13.3%), a complete response (CR) in 14 cases (11.7%), a strictly complete response (sCR) in 4 cases (3.3%). Thus, a VGPR or above in 34 patients accounted for 28.3%. (2)The median follow-up was 13 months, the median time to progression 12 months. The median survival after receiving lenalidomide was 19 months, and the median overall survival (OS) was 62 months. (3) The univariate analysis in 120 RRMM patients suggested that prognostic factors for significant improvement in PFS included normal karyotype, international staging system (ISS) Ⅰ-Ⅱ, t(4; 14) negative (detected by fluorescence in situ hybridization), non-bortezomib resistance and response to previous regimens. As to OS, non-bortezomib resistance, response to previous regimens and non-primary refractoriness were positive factors. Multivariate analysis showed that the response to previous regimens (PR or better) was an independent good prognostic factor for progress-free survival(PFS), non-bortezomib resistance and non-primary refractoriness for OS. (4) Grade 3 or 4 adverse events that occurred in more than 10% of all enrolled patients were neutropenia (12.7%), leukocytosis(11.5%) and thrombocytopenia (12.7%). Owing to intolerance of toxic side effects, 7 cases withdrew lenalidomide. Conclusions: No matter what combination, regimens containing lenalidomide are effective to RRMM patients with overall response rate 61.7%, a time to progression 12 months and an overall survival 62 months.The toxicity is quite tolerable and manageable. In addition, the response to previous treatment (reached PR or above) is the independent good prognostic factor for PFS, non-bortezomib resistance and non-primary refractoriness for OS. Clinical trail registration: Clinicaltrials.gov, NCT01947309.

Comparative analysis of platelet 5-HT concentrations in Han and Li patients with post-traumatic stress disorder.

We investigated the role of serotonin (5-HT) in the pathogenesis of post-traumatic stress disorder (PTSD) by determining the platelet 5-HT concentrations in Li and Han patients with PTSD in Hainan Province, China. Li and Han control groups of the same sample size have no statistical differences in gender and age distribution compared to those in the PTSD groups who were also examined. The platelet 5-HT concentrations were determined by high-performance liquid chromatography. In addition, the patients and controls were evaluated by the impact of event scale-revised (IES-R). IES-R showed that the total and sub-scale scores of three factors (avoidance, intrusion, and hyperarousal) of Li patients with PTSD were significantly higher than those of Han patients with PTSD. Scores of both PTSD groups were higher than those of their respective control groups. The platelet 5-HT concentration of the Li patients with PTSD (120.56 ± 118.05 ng/10(9) platelets) was lower than that of the Han patients with PTSD (271.43 ± 181.66 ng/10(9) platelets) and that of both Li and Han control groups (338.54 ± 156.46, 350.58 ± 169.19 ng/10(9) platelets, respectively). Differences existed in symptoms of PTSD in terms of avoidance, intrusion, and hyperarousal in the Li and Han patients with PTSD. The diminished 5-HT activity in patients with PTSD may be relevant to biochemical changes in the brain and body. The differences in these factors between ethnic groups could be due to their customs, social status, and culture.

[Outcomes of mini-flank incision for open partial nephrectomy for stage T1b renal tumor].

Objective: To evaluate the safety and efficacy of mini-flank incision for open partial nephrectomy for stage T1b renal tumor. Methods: The data of patients with stage T1b renal tumor who underwent mini-flank incision for open partial nephrectomy between January 2010 to September 2015 were retrospectively reviewed. The Nephron-sparing surgery (NSS) was performed through mini-flank supra-12th rib incision under general anesthesia. Results: A total of 47 patients(31 male and 16 female) were enrolled in our study. The median age was 40 years (range 22-67 years). The Zhongshan Score(ZS score) of renal tumors was 6 in 5 cases, 7 in 13 cases, 8 in 12 cases, 9 in 5 cases, 10 in 6 cases, 11 in 2 cases, 12 in 2 cases, 13 in 2 cases. The length of incision was from 7 cm to 9 cm, with an average of 8.1 cm. The operative time was from 70 min to 150 min, with an average of 96 min. The blood loss was from 50 ml to 600 ml, with an average of 135 ml. The warm ischemia time was from 20 min to 35 min, with an average of 28 min. All of the surgery margin were negative. One patient had fluid in surgical region and relieved after the drainage, and one patient had acute myocardial infarction. The hospital stay time was from 5 d to 14 d, with an average of 8 d. The pathological diagnosis included clear cell carcinoma in 37 cases, multilocular cystic renal carcinoma in 1 case, chromophobe cell tumor in 4 cases, and papillary carcinoma in 5 cases. The mean preoperative serum creatinine level was 87 µmol/L(48-150 µmol/L) and with a mean of 91 µmol/L(52-148 µmol/L) at 3 month follow-up after surgery, and there was no difference between the preoperative and postoperative period(P>0.05). A total of 45 out of 47 patients were followed up for 36 to 78 months, with an average of 60 months, and no one had recurrence or metastasis during follow-up. Conclusion: Mini-flank incision for open partial nephrectomy for renal tumor with stage T1b is safe and effective, which is worthy of promotion and application for small incision and quick recovery.

Clinical research of persimmon leaf extract and ginkgo biloba extract in the treatment of vertebrobasilar insufficiency.

This paper aims to compare the curative effects of persimmon leaf extract and ginkgo biloba extract in the treatment of headache and dizziness caused by vertebrobasilar insufficiency. Sixty patients were observed, who underwent therapy with persimmon leaf extract and ginkgo biloba extract based on the treatment of nimodipine and aspirin. After 30 days, 30 patients treated with persimmon leaf extract and 30 patients with ginkgo biloba extract were examined for changes in hemodynamic indexes and symptoms, such as headache and dizziness. The results showed statistically significant differences of 88.3% for the persimmon leaf extract and 73.1% for the ginkgo biloba extract, P < 0.05. Compared to the group of ginkgo biloba extract, the group of persimmon leaf extract had more apparent improvement in the whole blood viscosity, plasma viscosity, fibrinogen, hematokrit, and platelet adhesion rate, and the difference was statistically significant (P < 0.05 or P < 0.01). Based on these analyses, it can be concluded that persimmon leaf extract is better than ginkgo biloba extract in many aspects, such as cerebral circulation improvement, cerebral vascular expansion, hypercoagulable state lowering and vertebrobasilar insufficiency-induced headache and dizziness relief.

Effects of neural stem cells on synaptic proteins and memory in a mouse model of Alzheimer's disease.

Transplanting neural stem cells (NSC) to the damaged brain has been regarded as a potential treatment for neurodegenerative diseases such as Alzheimer's disease (AD), a condition characterized by memory loss. We hypothesized that transplantation of NSC into the hippocampal regions of APP + PS1 transgenic (Tg) mice, a well-established model of AD, would enhance the expression of synaptic proteins, which may be helpful for improving cognitive function. Our results showed that NSC transplantation significantly improved spatial learning and memory function in Tg mice. The results obtained by real-time RT-PCR, immunofluorescence, and Western blot analyses demonstrated that the expression of synaptophysin (SYN) and that of growth-associated protein-43 (GAP-43) in Tg-NSC mice, 8 weeks after transplantation, were significantly improved compared with what was observed in Tg-Veh (control) mice. This finding was confirmed by the increase in the number of synapses in Tg-NSC mice as observed via electron microscopy. Our results suggest that NSC-induced changes can recover memory loss in APP + PS1 transgenic mice, possibly by establishing new neural circuits resulting from the engrafted NSC.