Objective To investigate germline mutation of breast cancer susceptibility genes BRCA1/2,TP53 and PTEN in Chinese breast cancer patients. Methods All of128 female breast cancer patients in Peking University People′s Hospital from January 2016 to August 2018 were selected as objects. Among them,44 cases were sporadic breast cancer and 84 werebreast cancer patients with genetic high risks. Germline mutations of BRCA1,BRCA2,TP53 and PTENwere detected by NGS.χ2 test was used to analyze the difference of pathogenic mutation rates between sporadic breast cancer group and breast cancer with high genetic risks.Groups were divided according to the clinical features of the patients(family history, triple-negative breast cancer,age and bilateral breast cancer).Among them,there were 42 cases with family history of breast cancer,34 cases of triple-negative breast cancer,33 cases of early-onset breast cancer and 7 cases of bilateral breast cancer. Fisher′s exact probability test compared the relationship between pathogenic mutations of BRCA1/2 gene and clinical characteristics of breast cancer patients with hereditary risk factors. Results In 128 cases of breast cancer,30 germline mutations of BRCA1/2 were detected, including 13 pathogenic mutations and 3 newly discovered mutations(BRCA1:c. 4760C>G,BRCA2:c. 44134414del and BRCA2:c. 64826485del). The new mutations may be unique mutations of Chinese population. There were 3 cases of TP53 mutations,including 1 pathogenic mutation. All of the 3 mutations were found in early-onset breast cancer. Germline mutation of T53 has important detection significance for early-onset hereditary breast cancer. There were 5 cases of PTEN mutations,including 3 pathogenic mutations. Among 84 breast cancer patients with genetic high risks,the carry mutation rate was 40.5％(34/84)and the pathogenic mutation rate was 15.4(13/84). Among 44 sporadic cases,the carry mutation rate was 9％(4/44). The pathogenic mutation rate was 6.8％(3/44). Breast cancer susceptibility genes were carried at a higher rate in breast cancer patients with genetic high risks(P<0.001). BRCA1/2 mutations did not show statistical differences among groups of breast cancer patients with hereditary high risk factors . Conclusion Germline mutation detection of breast cancer susceptibility genes by next-generation sequencing is of great significance in breast cancer risk prediction and prognosis evaluation.

To explore therapeutic effect of acupuncture combined electrical stimulation on aged patients with post‐stroke depression .Methods : A total of 78 patients with post‐stroke depression were randomly and equally divided into routine treatment group (received health education based on routine treatment ) and combined treatment group (received acupuncture combined low‐frequency electrical stimulation based on routine treatment group ).After four‐week treatment , score of Hamilton rating scale for depression (HAMD) and therapeutic effect were compared between two groups .Results : Compared with before treatment , there was significant reduction in HAMD score in two groups after treatment ;compared with routine treatment group after treatment , there was significant reduction in HAMD score [(19.72 ± 2. 04) scores vs.(14. 94 ± 1. 86) scores] in combined treatment group , P＝0. 001 all.To‐tal effective rate of combined treatment group was significantly higher than that of routine treatment group (87.18% vs.64.1%, P＝0.018).Conclusion : Acupuncture combined low‐frequency electrical stimulation possesses significant therapeutic effect on post‐stroke depression , which is worthy of clinical application .

OBJECTIVE: To explore whether the high risk factors possibly leading to hypercoagulative status and thrombosis exist in Thalassemia patients of Guangxi region through detecting plasma tissne factor-bearing microparticles (TFMP), procoagulatima activity, coagulation and anticoagulation function, fibrinolytic function, endothelial function and platelet count. METHODS: The TFMP procoagulation activity was detected by chromogenic saubstract method, the levels of tissue factors (TF), tissue factor pathway inhibitor(TFPI), protein C (PC), protein S (PS), antithrombin Ⅲ(AT-Ⅲ), tissue plasminogen activator (tPA), thrombin-activated fibrinolysis inhibitor (TAFI), soluble E-selectin (sE-sel), intercellular adhesion molecule-1 (ICAM-1) and thrombomodulin (TM) were detected by ELISA in thalassemia group (n=71) and control group (n=20 heathy persons). RESULTS: Compared with control group, the AT-Ⅲ level decreased in β-thalastemia major group (TM) (P<0.05), the AT-Ⅲ level in TM group independeutly posstiody correlated with plt count (r=0.37, P<0.05); the levels of TF and sICAM in α-thalassenia intermediate group (TA) significantly decteased (P<0.05), the procoagulatim activity of TFMP in β-thalassemia intermediate group (TI) increased sngnificantly (P<0.05)， moreover positively corretated with AT-Ⅲ level (r=0.77, P<0.05). The TF and sICAM-1 levels in normal liver functim group of Thalassemia patients were lower tham those in control group (P<0.01 and P<0.05, respectively), the TFMP activity between normal and abnormal liver function was significantly different (P<0.05), while there were no significant difference in other correspoding indexes beween thalassemia group and control group as well as between each thalassemia groups. CONCLUSION The damage of liver function and reduction of anticoagylation substances exist in patients with β-thalassenia major in Guangxi region, the procoagulation activity of plasma TFMP in patients with β-thalassemia intermedia abnormally increases. All the above-mentioned factors may increase the risk of high coagulation status or thrombosis is thalassemia patients, the decrease of TF and SICAM-1 levels in patients with α-thalassemia intermedia may be factor against thrombosis.
Anticoagulants ; Antithrombin III ; China ; Humans ; Thalassemia ; Thromboplastin ; Tissue Plasminogen Activator

Adult ; Aged ; Aqueous Humor ; virology ; Female ; Humans ; Immunocompetence ; immunology ; Inflammation ; virology ; Male ; Middle Aged ; Retrospective Studies ; Young Adult

OBJECTIVE: To investigate the risk factors for brain injury in preterm infants by a multicenter epidemiological investigation of brain injury in hospitalized preterm infants in Anhui, China. METHODS: Preterm infants who were hospitalized in the department of neonatology in 9 hospitals of Anhui Neonatal Collaboration Network between January 2016 and January 2017 were enrolled as subjects. The data of maternal pregnancy and clinical data of preterm infants were collected, and the logistic regression model was used to analyze the risk factors for brain injury in preterm infants. RESULTS: A total of 3 378 preterm infants were enrolled. Of the 3 378 preterm infants, 798 (23.56%) had periventricular-intraventricular hemorrhage (PVH-IVH), and 88 (2.60%) had periventricular leukomalacia (PVL). Intrauterine distress, anemia, hypoglycemia and necrotizing enterocolitis (NEC) were risk factors for PVH-IVH (OR=1.310, 1.591, 1.835, and 3.310 respectively; P<0.05), while a higher gestational age was a protective factor against PVH-IVH (OR=0.671, P<0.05). PVH-IVH, NEC and mechanical ventilation were risk factors for PVL (OR=4.017, 3.018, and 2.166 respectively; P<0.05), and female sex and use of pulmonary surfactant were protective factors against PVL (OR=0.514 and 0.418 respectively; P<0.05). CONCLUSIONS Asphyxia/anoxia, infection/inflammation, mechanical ventilation, anemia and hypoglycemia may increase the risk of brain injury in preterm infants.
Brain Injuries ; Cerebral Hemorrhage ; China ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Leukomalacia, Periventricular

OBJECTIVE: Sepsis is a deadly infection that causes injury to tissues and organs. Infection and anti-infective treatment are the eternal themes of sepsis. The successful control of infection is a key factor of resuscitation for sepsis and septic shock. This review examines evidence for the treatment of sepsis. This evidence is combined with clinical experiments to reveal the rules and a standard flowchart of anti-infection therapy for sepsis. DATA SOURCES: We retrieved information from the PubMed database up to October 2018 using various search terms and their combinations, including sepsis, septic shock, infection, antibiotics, and anti-infection. STUDY SELECTION: We included data from peer-reviewed journals printed in English on the relationships between infections and antibiotics. RESULTS: By combining the literature review and clinical experience, we propose a 6Rs rule for sepsis and septic shock management: right patients, right time, right target, right antibiotics, right dose, and right source control. This rule encompasses rational decisions regarding the timing of treatment, the identification of the correct pathogen, the selection of appropriate antibiotics, the formulation of a scientifically based antibiotic dosage regimen, and the adequate control of infectious foci. CONCLUSIONS This review highlights how to recognize and treat sepsis and septic shock and provides rules and a standard flowchart for anti-infection therapy for sepsis and septic shock for use in the clinical setting.
Anti-Bacterial Agents ; therapeutic use ; Anti-Infective Agents ; therapeutic use ; Humans ; PubMed ; Sepsis ; drug therapy ; Shock, Septic ; drug therapy

OBJECTIVE: To investigate the advantages of minimally invasive surgery-transforaminal lumbar interbody fusion(MIS-TLIF) under Quadrant channel in the treatment of grade I and II degree degenerative lumbar spondylolisthesis. METHODS: The clinical data of 100 patients with grade I and II degree degenerative lumbar spondylolisthesis treated from March 2014 to March 2017 were retrospectively analyzed. Among them, 50 patients were treated with MIS-TLIF, including 19 males and 31 females, aged from 44 to 73 years old with an average of (49.83±15.46) years old; course of disease from 6 months to 7 years with the mean of (22.18±4.74) months; L₄ slippage was in 30 cases and L₅ slippage was in 20 cases, the slippage vertebral pedicles were intact; according to Meyerding classification, 29 cases of I degree slip and 21 cases of II degree slip. Other 50 patients were treated with open-transforaminal lumbar interbody fusion(OPEN-TLIF), including 23 males and 27 females, aged from 40 to 77 years old with an average of(50.67±14.36) years old; course of disease from 6 months to 10 years with the mean of (20.56±5.37) months; L₄ slippage was in 33 cases and L₅ slippage was in 17 cases, the slippage vertebral pedicles were intact; according to Meyerding classification, 34 cases of I degree slip and 16 cases of II degree slip. The operation time, length of surgical incision, intraoperative blood loss, postoperative drainage, and serum creatine kinase(CK-MM) levels before surgery and 1 day after surgery were observed. Visual analogue scale(VAS), Japanese Orthopedic Association Score (JOA), and Oswestry dysfunction index (ODI) were compared between the two groups before and after surgery. According to the imaging data, the slip rate, intervertebral space height and slip angle of the two groups before and 12 months (last follow-up) were compared. Intervertebral fusion was evaluated according to lumbar X-ray and CT at 6 and 12 months postoperatively. The clinical effect was evaluated according to the MacNab criteria at 12 months after surgery. RESULTS: All the patients were followed up for 12 months. In MIS-TLIF group, operation time, length of surgical incision, intraoperative blood loss, postoperative drainage were (118.48±21.97) min, (3.74±0.74) cm, (148.78±32.32) ml, (84.85±16.37) ml, respectively, CK-MM level was (72.31±9.79) μ/L before surgery and (415.12±25.89) μ/L at the first day after surgery. In OPEN-TLIF group, operation time, length of surgical incision, intraoperative blood loss, postoperative drainage were (115.40±11.94) min, (8.46±0.69) cm, (219.27±48.33) ml, (157.69±31.61) ml, respectively, CK-MM level was (75.48±10.73) μ/L before surgery and (506.69±37.86) μ/L at the first day after surgery. The intraoperative blood loss, postoperative drainage volume, length of surgical incision, and CK-MM level on the first postoperative day were lower in MIS-TLIF group than in OPEN-TLIF group(<0.05), but the operation time and preoperative CK-MM levels were compared between two groups, the difference was not statistically significant (>0.05). There were no significant differences in ODI, VAS, and JOA scores before surgery(>0.05). The ODI, VAS, and JOA scores were significantly improved after surgery(<0.05), and the scores of MIS-TLIF group were better than those of OPEN-TLIF group(<0.05). At the last follow-up, the slip rate, slip angle and intervertebral space height were significantly improved in the same group(<0.05), but there was no significant difference between two groups(>0.05). There was no significant difference in intervertebral fusion between groups at 6 and 12 months after operation(>0.05). According to the MacNab standard, 40 cases got excellent results, 7 good, 3 fair in MIS-TLIF group, and 35 cases got excellent results, 10 good, 5 fair in OPEN-TLIF group. One patient had incision exudation and delayed healing in MIS-TLIF group. And in OPEN-TLIF group, 1 patient had local muscle necrosis on the right side of L₅ and the bacterial culture of the secretions was negative in the different three times and the right internal fixation device was taken out after the second operation completely debridement, and finally obtained delayed healing. CONCLUSIONS The MIS-TLIF under Quadrant channel has advantage of minimally invasive trauma, less bleeding, faster function recovery and better effect in surgical treatment of grade I and II degree degenerative lumbar spondylolisthesis.
Adult ; Aged ; Female ; Humans ; Lumbar Vertebrae ; Male ; Middle Aged ; Minimally Invasive Surgical Procedures ; Retrospective Studies ; Spinal Fusion ; Spondylolisthesis ; Treatment Outcome

To investigate the present situation of empowerment in elderly patients with hypertension in the community, and to analyze its impact factors. Methods 176 elderly hypertensive patients in our community of Guangzhou city were investigated by convenience sampling method. The chronic disease empowerment scale, general self-efficacy scale and social support rating scale were used to investigate. Results The score of empowerment in elderly patients with hypertension was (147. 48 ± 15. 65). The score of self-management is the lowest dimension with the score rate of 44. 6％. The impact effects of education level, living conditions, course of disease, self-efficacy, objective support, subjective support and utilization of social support on empowerment were significant(P＜0. 05), which could explain 78. 1％ of the variance. Conclusion The empowerment level of elderly patients with hypertension in community is relatively low, the clinical medical staff should focus on the patients of lower education level, living alone, with a longer duration of disease. Nurses should pay attention to strengthening self-efficacy and social support of the patients so as too improve the clinical therapeutic effects of patients.

Objective To establish the quality standards for salt eucommia dispensing granules. Methods The extractives were obtained by alcohol extraction method. HPLC was applied for the determination of pinoresinol diglucoside in dispensing granules. HPLC fingerprints were established by the contrast of Agilent 1260 HPLC, Waters HPLC and various chromatogram column. Results Pinoresinol diglucoside showed a good linear relationship ( Y = 2. 9594X + 3. 2825,R2 =0.9999) at 102.8-2056.0 mg?L-1 with average recovery of 99.85％ (RSD = 0.31％,n = 9). Conclusion The method is easy-operated and accurate,which has a good specificity for the quality control of common salt eucommia dispensing granules.