Objective To analyze the STK11 gene mutation in a sporadic Chinese Datient with Peutz Jeghers syndrome(PJS)so as to provide a basis for the genetic diagnosis and counseling of PJS.Methods Whole blood samples were obtained from a female patient with PJS,her parents and sister.as well as from 100 unrelated,normal individuals as control.Genomic DNA was extracted,and the whole coding region of STK11 gene was amplified by PCR followed by direct sequencing.Results Molecular analysis revealed a novel het-erozygous mutation C73S in the patient,which resulted from the substitution of thymine(T)for adenine(A) at codon 217 in exon 1 of STK11 gene.However, the novel mutation was not found in unaffected family mem-bers or unrelated controls.Conclusion A novel missense mutation C73S,which may contribute to the devel-opment of PJS,is found in the patient.

Objective To investigate the effect of diuretics combined with the new class volume-removing drugs nesiritide and tolvaptan on refractory heart failure (RHF).Methods We collected 78 patients with RHF from cardiovascular ICU in our hos-pital,and patients were divided into combined volume-removing drugs treatment group (CVR group)and traditional diuretics com-bined with inotropic treatment group (control group).We observed the differences in the heart failure symptoms control rate and the average hospitalization days between the two groups.The difference in average urine volume and weight loss during hospitaliza-tion was observed.Results The heart failure symptoms were controlled and successful discharge in 89.7% of patients in CVR group,which was better than that in control group(71.8%).The corresponding rates of death or abandonment was decreased sig-nificantly in CVR group,and the average number of hospitalization days in CVR group was significantly shorter than that in control group(P <0.05).Meanwhile,the average daily urine volume and the weight loss decreased significantly in CVR group than those in control group(P <0.05).Conclusion The therapy strategy of combined volume-removing drugs can significantly improve the vol-ume removing and control rate of heart failure symptoms.

Objective To compare the efficacy of rcmifentanil combined anesthesia and fentanyl or sufentanil combined anesthesia in patients undergoing cardiac surgery.Methods We searched the Coehrane library,PubMed,EMBASE,OVID and Chinese Biomedical Database for prospective randomized controlled trials involving the comparison of the efficacy of remifentanil combined anesthesia and fentanyl or sufentanil combined anesthesia in patients undergoing cardiac surgery.The quality of the studies was evaluated by the method recommended by Cochrane Collaboration.Evaluation indexes included the mechanical ventilation time after operation,duration of stay in hospital,and level of cardiac troponin,mortality,requirement for positive inotropic drugs and incidence of hyperalgesia and myocardial infarction during perioperative period.Meta-analysis was conducted using the RevMan 5.0 software.Results Sixteen prospective randomized controlled trials involving 1473 patients were included in our Meta-analysis.The patients were divided into 2 groups:fentanyl or sufentanil group ( n =644) and remifentanil group ( n =573).Compared with fentanyl or sufentanil group,the mechanical ventilation time after operation and duration of stay in hospital were significantly shortened,the level of cardiac troponin during the perioperative period was significantly decreased and the requirement for positive inotropic drugs during the perioperative period was significantly reduced ( P ＜ 0.05),and no significant change was found in the incidence of hyperalgesia or mortality of myocardial infarction during the perioperative period in remifentanil group ( P ＞ 0.05 ).Conclusion The efficacy of remifentanil combined anesthesia is better than that of fentanyl or sufentanil combined anesthesia in patients undergoing cardiac surgery.

The antibody against AT1-EC2 plays a role in some kinds of inflammatory vascular diseases including malignant hypertension, preeclampsia, and renal-allograft rejection, but the detailed mechanisms remain unclear. In order to investigate the changes of NADPH oxidase and reactive oxygen species in the aorta in a mouse model which can produce AT1-EC2 antibody by active immunization with AT1-EC2 peptide, 15 mice were divided into three groups: control group, AT1-EC2-immunized group, and AT1-EC2-immunized and valsartan-treated group. In AT1-EC2-immunized group and AT1-EC2-immunized and valsartan-treated group, the mice were immunized by 50 μg peptide subcutaneously at multiple points for 4 times: 0, 5, 10, and 15 days after the experiment. In AT1-EC2-immunized and valsartan-treated group, valsartan was given at a dose of 100 mg/kg every day for 20 days. After the experiment, the mice were sacrificed under anesthesia and the aortas were obtained and frozen in liquid nitrogen for the preparation of frozen section slides and other experiments. The titer of AT1-EC2 was assayed by using ELISA. The level of NOX1 mRNA in the aorta was determined by using RT-PCR. The expression of NOX1 was detected by using Western blotting. Confocal scanning microscopy was used to assay the α-actin and NOX1 expression in the aortic tissue. The O(2)∸ production was detected in situ after DHE staining. The mice produced high level antibody against AT1-EC2 in AT1-EC2-immunized group and AT1-EC2-immunized and valsartan-treated group, and the level of NOX1 mRNA in the aortic tissues was 1.6±0.4 times higher and the NOX1 protein expression was higher in AT1-EC2-immunized group than in control group. There were no significant differences in the level of NOX1 mRNA and protein expression between control group and AT1-EC2-immunized and valsartan-treated group. The expression and co-localization of α-actin and NOX1 in AT1-EC2-immunized group increased significantly as compared with those in control group, and the O(2)∸ production increased about 2.7 times as compared with control group. There were no significant differences between control group and AT1-EC2-immunized and valsartan-treated group. It is concluded that active immunization with AT1-EC2 can activate NOX1-ROS, and increase vascular inflammation, which can be inhibited by AT1 receptor blocker valsartan. This may partially explain the mechanism of the pathogenesis of inflammatory vascular diseases related to antibody against AT1-EC2.

Objective To evaluate the long-term effects and safety of diode laser in hair removal.Methods A retrospective study was conducted.In this study,350 patients with hypertrichosis were treated by an 800-nm diode laser with a pulse duration of 30 ms for various sessions.Two groups were divided based on the treatment sessions:group A receiving 6(≥4 for axillae)or more treatments,group B less than 6(＜4 for axillae)treatments.Patients were followed up for 8 months to 3 years(mean 22.5 months)by return visit or telephone.Evaluation of efficacy and side effects were performed.Results Follow-up and evaluation were completed in 235 patients,and a total of 375 sites treated.After 2-18 treatments,a total effective rate of 80.53%(302/375)was achieved.Significant higher effective rates were observed in group B compared with group A at all sites 86.84%(33/38)vs 35.00%(7/20)on the lips,68.42%(26/38)vs 30.77%(4/13)on the face and neck,92.00%(46/50)vs 55.56%(5/9)in lower extremities,86.96%(20/23)vs 50.00%(4/5)on the trunk.93.81%(91/97)vs 55.56%(5/9)at the axillae,92.16%(47/51)vs 73.68%(14/19)in the upper extremities(all P＜0.05),Side effects were noted in only 6 cases,including hyperpigmentation,itching,and development of follicular papules,blisters and white hair.Neither hypopigmentation nor scarring was observed.Conclusions Diode laser system is effective and safe for hair removal.The effect varies with lesional sites and treatment sessions.

Objective To evaluate the efficacy and safety of posaconazole for preventing invasive fungal disease (IFD) in the aplastic anemia patients receiving allogeneic hematopoietic stem cell transplantation (HSCT). Methods A total of 46 aplastic anemia patients received allogeneic HSCT. They were treated with oral posaconazole 200 mg, three times a day from HSCT pretreatment to granulocyte recovery after transplantation. G test and GM test were done 1, 2 and 4 weeks after the end of posaconazole treatment, and chest CT scan repeated 4 weeks after the end of posaconazole treatment. Posaconazole prophylaxis was defined as successful if there were no clinical manifestations indicative of fungal infection. Results All the 46 patients experienced neutropenia. The median of absolute neutrophil count (ANC) nadir was 0.02 (0-0.05)×109/L for a median time of 10 (8-19) days. The median duration of posaconazole prophylaxis was 26 (15-41) days. Neutropenic fever was reported in 45 patients, which lasted a median time of 5 (1-13) days. Six patients (13.3％ of the patients with neutropenic fever) failed to respond to the empirical treatment of broad spectrum antibiotics with persistent fever over 7 days. Their treatment was switched to short-term empirical treatment with broad spectrum antifungal agents. However, subsequent G test, GM test and chest CT showed negative results. None of the six patient was consistent with IFD diagnosis. Breakthrough fungal infection was not considered. Oral posaconazole solution was resumed for preventing IFD. G test, GM test and chest CT scan did not show any sign of fungal infection 1, 2 and 4 weeks after the end of posaconazole prophylactic treatment in all the 46 patients, proving the success of oral posaconazole in preventing IFD. Posaconazole was not discontinued due to adverse drug reaction in any patient. Conclusions Posaconazole is effective for preventing IFD in the aplastic anemia patients receiving HSCT with good safety profile and few adverse reactions.

The antibody against AT1-EC2 plays a role in some kinds of inflammatory vascular diseases including malignant hypertension, preeclampsia, and renal-allograft rejection, but the detailed mechanisms remain unclear. In order to investigate the changes of NADPH oxidase and reactive oxygen species in the aorta in a mouse model which can produce AT1-EC2 antibody by active immunization with AT1-EC2 peptide, 15 mice were divided into three groups: control group, AT1-EC2-immunized group, and AT1-EC2-immunized and valsartan-treated group. In AT1-EC2-immunized group and AT1-EC2-immunized and valsartan-treated group, the mice were immunized by 50 μg peptide subcutaneously at multiple points for 4 times: 0, 5, 10, and 15 days after the experiment. In AT1-EC2-immunized and valsartan-treated group, valsartan was given at a dose of 100 mg/kg every day for 20 days. After the experiment, the mice were sacrificed under anesthesia and the aortas were obtained and frozen in liquid nitrogen for the preparation of frozen section slides and other experiments. The titer of AT1-EC2 was assayed by using ELISA. The level of NOX1 mRNA in the aorta was determined by using RT-PCR. The expression of NOX1 was detected by using Western blotting. Confocal scanning microscopy was used to assay the α-actin and NOX1 expression in the aortic tissue. The O(2)∸ production was detected in situ after DHE staining. The mice produced high level antibody against AT1-EC2 in AT1-EC2-immunized group and AT1-EC2-immunized and valsartan-treated group, and the level of NOX1 mRNA in the aortic tissues was 1.6±0.4 times higher and the NOX1 protein expression was higher in AT1-EC2-immunized group than in control group. There were no significant differences in the level of NOX1 mRNA and protein expression between control group and AT1-EC2-immunized and valsartan-treated group. The expression and co-localization of α-actin and NOX1 in AT1-EC2-immunized group increased significantly as compared with those in control group, and the O(2)∸ production increased about 2.7 times as compared with control group. There were no significant differences between control group and AT1-EC2-immunized and valsartan-treated group. It is concluded that active immunization with AT1-EC2 can activate NOX1-ROS, and increase vascular inflammation, which can be inhibited by AT1 receptor blocker valsartan. This may partially explain the mechanism of the pathogenesis of inflammatory vascular diseases related to antibody against AT1-EC2.
Animals ; Aorta ; metabolism ; Disease Models, Animal ; Mice ; Mice, Inbred C57BL ; NADPH Oxidases ; genetics ; Reactive Oxygen Species ; metabolism ; Vaccination ; methods

OBJECTIVETo investigate the digit ratio of men who have sex with men (MSM), and the relationship between digit ratio and the partner types of MSM.

METHODSParticipants were required from Yunnan Rainbow Sky, a community organization that specialized in HIV testing, intervention and counseling services for MSM between December 2014 and April 2015. Inclusion criteria of MSM as the following: more than 18 years old; men who have had sex with men; HIV test was negative. Exclusion criteria were as this: those who couldn't attend the research due to disability. Eventually, there were 115 MSM participated in the research. According to the nationality, we adopted 1:1 matched case-control study, and we selected 115 men as control group. According to the partner number of MSM, the MSM were divided into two groups. One group was fixed partner and another was multi-partner. We used a questionnaire to collect the demographic characteristics, knowledge about HIV/AIDS, sexual behaviors during nearly 6 months, sexual orientation, the places where looked for sex partners, sex roles, drug use, preventive services etc. Then, the physical measurements were used to measure the length from second to the fifth finger in MSM group and control group. The results were expressed as nD. The chi-square test was used to compare the demographic differences between MSM group and the control group, and the T-test was used to compare the digit ratio between two groups.

RESULTSAmong 115 MSM, there were 26% (30/115) MSM who had a fixed partner, and there were 74% (85/115) MSM who had multi-partner. The mean values of digit ratio of MSM presented a trend as 2D:3D < 2D:4D < 3D:4D < 2D:5D < 4D:5D < 3D:5D. The right 2D:4D and 2D:5D of MSM were 0.957 7 ± 0.048 1 and 1.229 8 ± 0.083 4, and the mean value was significasntly higher than control group (0.941 4 ± 0.038 0 and 1.204 1 ± 0.069 5, t values were 2.84, 2.54 and P values were 0.005, 0.012). The right 2D:4D of the fixed partner group and multi-partner group among MSM were 0.962 2 ± 0.051 0 and 0.956 1 ± 0.047 3, respectively, and the mean values were significantly higher than control group (t values were 2.98, 2.83; P values were 0.027, 0.015).

CONCLUSIONThe proportion of multi-partner MSM was higher, so MSM at a high risk of being HIV infected. Right 2D:4D could be used as a biomarker of the MSM in Kunming, but couldn't reflect the features of MSM whether he has a fixed partner or has several partners.

Case-Control Studies ; China ; Fingers ; anatomy & histology ; HIV Infections ; Homosexuality, Male ; Humans ; Male ; Risk-Taking ; Sexual Partners ; Surveys and Questionnaires

Objective:To evaluate the effect of superior cervical ganglion block (SCGB) on cardiac function and nucleotide like receptor protein 3 (NLRP3) signaling pathway in a rat model of myocardial ischemia-reperfusion (I/R).Methods:Sixty healthy SPF male Sprague-Dawley rats, weighing 250-300 g, aged 2-3 months, were divided into 4 groups ( n=15 each) using a random number table method: sham operation group (sham group), myocardial I/R group (IR group), myocardial I/R + normal saline group (IR+ NS group), and myocardial I/R + SCGB group (IR+ SCGB group). Myocardial I/R model was developed by ligation of the left anterior descending branch of the coronary artery for 45 min followed by restoration of blood flow in anesthetized aninals. IR+ SCGB group received SCGB (0.25% ropivacaine 0.1 ml) at 10 min before reperfusion once a day for 2 consecutive weeks, while 0.9% sodium chloride was given instead of ropivacaine in IR+ NS group. Blood samples were collected at 24 h and 14 days of reperfusion for determination of serum concentrations of norepinephrine (NE), troponin T (TnT), tumor necrosis factor-alpha (TNF-α), interleukin-18 (IL-18) and IL-1β by enzyme-linked immunosorbent assay. Echocardiography was performed before ischemia and at 14 days of reperfusion, and left ventricular short axis shortening rate (FS), ejection fraction (EF), and cardiac output (CO) were measured. The rats were sacrificed at 14 days of reperfusion and the hearts were taken for determination of the contents of norepinephrine (NE) in myocardial tissues in the infarction area (by enzyme-linked immunosorbent assay), percentage of myocardial fibrosis area (by Masson staining), M1 macrophage marker CD68 + cell count in the infarction area (by immunohistochemical method), and expression of NLRP3 and gasdermin D (GSDMD) in myocardial tissues (by Western blot). Results:Compared with Sham group, the serum concentrations of TnT, TNF-α, IL-18 and IL-1β, percentage of myocardial fibrosis area, and NE levels in serum and myocardial tissues were significantly increased, the expression of NLRP3 and GSDMD in myocardial tissues was up-regulated, CD68 + cell count was increased, and EF, CO and FS were decreased in IR group ( P<0.05). Compared with IR group, the serum concentrations of TnT, TNF-α, IL-18 and IL-1β, percentage of myocardial fibrosis area, and NE levels in serum and myocardial tissues were significantly decreased, the expression of NLRP3 and GSDMD in myocardial tissues was down-regulated, CD68 + cell count was decreased, and EF, CO and FS were increased in IR+ SCGB group ( P<0.05), and no statistically significant changes were found in the parameters mentioned above in IR+ NS group ( P>0.05). Conclusions:SCGB can improve the cardiac function in a rat model of myocardial I/R, and the mechanism may be related to the inhibition of NLRP3 signaling pathway.

Palliative care, as an emerging discipline, is rapidly advancing in China. However, progress in quality management has been relatively slow, hindering the homogeneity of palliative care services in a certain degree. This article takes the Shanghai Palliative Care Service Management Center as an example, outlines its practical model and achievements in the field of quality management since its establishment, and further analyzes the existing problems based on the city-wide palliative care service quality evaluation results. The article summarizes relevant experiences and offers corresponding insights, enriching research cases and practical support in the quality management of palliative care, which may have practical application value for enhancing the homogeneity of palliative care services in the region.