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Objective To explore the diagnosis of clinically suspicious von Willebrand disease(vWD)in a family and its pathogene-sis.Methods The pedigree information and the biological specimen were collected from the clinically suspected VWD patient and her family members(4 persons in total)in Peking University First Hospital.The levels of platelet count(PLT),activated partial thrombo-plastin time(APTT),vWF antigen(vWF:Ag),vWF activity(vWF:Ac)and FⅧ activity(FⅧ:C)were detected,and vWF risto-cetin cofactor(vWF:RCo)assay,ristocetin-induced platelet aggregation assay(RIPA)and vWF collagen binding(vWF:CB)assay were performed for phenotype diagnosis.The peripheral blood genomic DNAs were extracted from the proband and her family members to perform whole-exome sequencing for identifying the mutation of vWF gene,The mutation site was analyzed by using bioinformation tools to explore the pathogenesis of the proband.Results The APTT of proband(m 1)was slightly prolonged and her vWF:Ag,vWF:Ac,vWF:RCo and vWF:CB were significantly decreased.There was no obvious aggregation in RIPA assay(1.0 mg/mL and 1.25 mg/mL).In her father(Ⅱ3),APTT,FⅧ:C,vWF:Ag,vWF:Ac and vWF:CB were normal,but vWF:RCo was slightly decreased.In her mother(Ⅱ4),APTT,FⅧ:C,vWF:Ag,vWF:RCo and vWF:CB were all normal,but vWF:Ac significantly decreased.In her brother(Ⅲ2),APTT and FⅧ:C were normal,but vWF:Ag,vWF:Ac,vWF:RCo and vWF:CB were reduced to varying degrees.In all the family members(father,mother and brpther),no apparent aggregation in RIPA(1.0 mg/mL)was shown.Genetic analysis showed that the proband(Ⅲ1)carried a compound heterozygous mutation of vWF gene c.7288-9T＞G and c.1117C＞T,her father(Ⅱ3)carried vWF gene c.7288-9T＞G heterozygous mutation,and vWF gene c.1117C＞T heterozygous mutation was presented in both mother(Ⅱ4)and brother(Ⅲ2).Conclusion According to the results of laboratory tests,the proband was diagnosed as type 2A vWD.The hetero-zygous mutation in vWF gene c.1117C＞T and c.7288-9T＞G may be the molecular mechanism leading to type 2A vWD in the proband.
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Objective To investigate the effect of small dose of dexmedetomidine on the development of postoperative nausea and vomiting in the patients undergoing laparoscopic gynecologic surgery.Methods A total of 207 patients,aged 18-60 yr,of American Society of Anesthesiologists physical status Ⅰ or Ⅱ,scheduled for elective laparoscopic gynecologic surgery under general anesthesia,were randomly divided into either dexmedetomidine group (group D,n=103) or control group (group C,n=104) using a random number table.Before induction of anesthesia,dexmedetomidine 0.1 μg/kg was injected intravenously over 1 min in group D,while the equal volume of normal saline was given instead in group C.At 20 min before the end of surgery,dexmedetomidine 0.04 μg/kg was injected intravenously over 30 s in group D.For the patients requiring patient-controlled analgesia (PCA),PCA solution contained sufentanil 125 μg in 125 ml of normal saline.The PCA pump was set up with a 2 ml bolus dose,a 8 min lockout interval and background infusion at a rate of 1 ml/h.Pethidine was used for PCA after surgery in the patients who did not require PCA.Numeric rating scale scores were maintained ＜4 after surgery.Sufentanil 3 μg was injected intravenously as rescue analgesic in postanaesthesia care unit (PACU).The occurrence of nausea and vomiting was recorded within 0-1 h,1-6 h,6-12 h,and 12-24 h periods after surgery.The occurrence of hypotension and bradycardia during surgery,emergence time,Ramsay sedation score on admission to PACU,requirement for sufentanil as rescue analgesic in PACU,requirement for PCA and antiemetics,and occurrence of somnolence and shivering were recorded.Results Pethidine was not given in the patients who did not require PCA in the two groups.Somnolence and shivering were not found in the two groups.Compared with group C,the incidence of bradycardia was significantly increased,the requirement for antiemetics in PACU and incidence of nausea and vomiting within 1 h after surgery were significantly decreased (P＜0.05),and no significant change was found in the emergence time,Ramsay sedation score,requirement for sufentanil as rescue analgesic,requirement for PCA and total incidence of postsurgical nausea and vomiting in group D (P＞0.05).Conclusion For the patients undergoing laparoscopic gynecologic surgery,small dose of dexmedetomedine can only decrease the development of nausea and vomiting in the early postsurgical period (in PACU),and does not influence the recovery from anesthesia.
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Objective To investigate the effect of comprehensive nursing intervention on the quality of life of patients suffering from hypertension. Methods A total of 120 cases of essential hypertension were evenly randomized into observation group and control group. Both groups received conventional antihypertensive drug and nursing, and additionally, the observation group was given intervention of comprehensive nursing including dietary regulation, exercise training, emotional care and medication instruction. The intervention lasted 3 months. Before and after the intervention, traditional Chinese medicine ( TCM) symptom classifying list and World Health Organization ( WHO) QOL-BRIEF were applied to evaluate the therapeutic effect of the two groups. The changes of blood pressure, clinical manifestation and the quality of life were also compared between the two groups. Results (1) After intervention, the systolic pressure and diastolic pressure were both improved in the two groups ( P<0.05 or P<0.01 compared with those before treatment) , and the improvement in the observation group was superior to that in the control group (P<0.01). (2) After intervention, the scores of TCM symptom scores and QOL-BRIEF total scores were improved in the two groups ( P<0.05 or P<0.01 compared with those before treatment) , and the improvement in the observation group was superior to that in the control group ( P<0.01). Conclusion TCM comprehensive nursing intervention can effectively relieve hypertension and improve the quality of life of hypertension patients.