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OBJECTIVE@#To explore the molecular mechanism of a case where RhD genotyping did not match serological results.@*METHODS@#The serological results of 8 members from two generations of this family were analyzed. And according to Mendelian law of inheritance, RhD genotyping, zygotic type determination and gene sequencing were performed for the family members.@*RESULTS@#The proband and one of her cousins have the same RhD alleles, both of them have a 336-1G>A intron variant RhD allele and a complete RhD deletion allele. The variant alleles are inherited from two of their parents with blood relationship, while the complete-deleted alleles come from the other. 336-1G>A means that the last base G of the second intron of the RhD gene is mutated to A, which leads to a negative RhD serology and a positive genotype in the proband.@*CONCLUSION@#There was a rare 336-1G> A intron variant gene (RhD * 01N.25) in this family, which was a recessive gene relative to the RhD gene and resulted in RhD phenotype negative.
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Female , Humans , Alleles , Genotype , Introns/genetics , Pedigree , Phenotype , Rh-Hr Blood-Group System/geneticsABSTRACT
Objective To explore the protective effect and mechanism of swimming rehabilitation training on learning and memory impairment of cerebral ischemia reperfusion gerbil. Methods Forty adult healthy male gerbils were randomly divided into sham group,sham+swimming group (Sham+S group),cere-bral ischemia / reperfusion group ( I/R group), cerebral ischemia/reperfusion+swimming group ( I/R+S group),with 10 rats in each group. The gerbil models of cerebral ischemia/reperfusion in I/R group and I/R+S group were established by blocking bilateral common carotid artery,while for gerbils in Sham group and Sham+S group, only bilateral common carotid arteries of gerbils were exposed, but no arteries were clamped. Morris water maze was used to detect the changes of learning and memory function in rats. Oxida- tive stress injury in hippocampal neurons was detected by detection kit analysis. And the expression of Bax, Bcl-2 and CaMK Ⅱ protein in hippocampal tissue was detected by Western blot. Results Compared with Sham group,the gerbils in I/R group had longer positioning cruise time and less shuttle times ( both P<0. 01). Compared with I/R group,the positioning cruise time and shuttle times in I/R+S group were signifi-cantly shortened and increased respectively (both P<0. 01). Compared with sham group( SOD:(123. 13± 7. 50)U/mg,GSH:(42. 10±2. 17) μg/g,GSH-Px:(61. 37±2. 51) μg/g,MDA:( 2. 91± 0. 23) nmol/mg), the activities of SOD,GSH,GSH-Px in I/R group decreased significantly,while the content of MDA increased significantly(SOD:(75. 50±6. 96)U/mg,GSH:(22. 50±1. 64) μg/g,GSH-Px:(33. 15±2. 04)μg/g,MDA:(5. 96±0. 32)nmol/mg;all P<0. 01). Furthermore,compared with I/R group,the above indexes in I/R+S group were significantly reversed(SOD:(110. 30±5. 90)U/mg,GSH:(34. 31±1. 73)μg/g,GSH-Px:(50. 13 ±2. 31)μg/g,MDA:(3. 57±0. 29) nmol/mg;all P<0. 01). Compared with Sham group,the expression of Bax protein in hippocampus of gerbils in I/R group was increased,while the expression of Bcl-2 protein and p-CaMK Ⅱ protein was decreased (all P<0. 05). Compared with I/R group,the expression of Bax protein in hippocampus of gerbils in I/R+S group was decreased,while the expression of Bcl-2 protein and p-CaMK Ⅱprotein was increased (all P<0. 05). Conclusion Swimming rehabilitation training can improve learning and memory impairment of gerbils after ischemia-reperfusion through anti-oxidative stress and anti-apoptosis, which may be related to CaMK Ⅱ signaling system.
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Objective To investigate the clinical curative effect of Qingrehuatan method in the treatment of insomnia elderly patients with benzodiazepines dependence.Methods From April 2016 to April 2017,49 insomnia elderly patients with benzodiazepines dependence in the Second People's Hospital of Zhoushan were divided into the observation group(20 cases)and control group (29 cases)according to the different treatment methods.In the gradual reduction at the same time,the control group was treated with trazodone,the observation group was treated with Qingrehuatan method.Before treatment and after treatment for 1course,the revised Pittsburgh sleep quality scale (PSQI),index of insomnia symptom score,TCM symptom score,Zung Anxiety Rating Scale score,Wechsler Adult Intelligence Scale(WAIS－RC)and Wechsler Memory Scale(WMS－RC)score were observed in the two groups. Results After treatment,the rate of withdrawal and discontinuation of the observation group was significantly higher than that of the control group (90.0% vs.68.9%),the difference was statistically significant (χ2＝6.918,P＜0.05).After treatment,the PSQI scores and symptom scores of the two groups were significantly decreased,and the PSQI scores and TCM symptom scores of the observation group improved significantly better than those of the control group[(8.8 ±1.1)points vs.(10.6 ±1.3)points,(2.9 ±0.8)points vs.(4.6 ±1.2)points],the differences were statistically significant(t＝5.063,5.535,all P＜0.05).After treatment,the Zung Anxiety Scale scores of the two groups were significantly lower,and the improvement of the observation group was significantly better than that of the control group[(42.90 ±5.65)points vs.(48.21±5.27)points],the difference was statistically significant(t ＝ 3.366,P＜0.05 ).After treatment,the long －term memory,short －term memory and memory quotient of the two groups were significantly increased,and short－term memory and memory quotient of the observation group improved significantly better than those of the control group[(23.30 ±5.31)points vs.(20.55 ±6.58)points,(76.67 ± 12.70)points vs.(67.36 ±19.13)points],the differences were statistically significant (t＝2.274,2.047,all P＜0.05 ).Conclusion Qingrehuatan method in the treatment of insomnia elderly patients with benzodiazepines depend-ence can improve the possible reduction in the process of stopping drug withdrawal symptoms and memory function, and can improve the symptoms of patients at the same time,and it is worthy of clinical application.
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Objective To compare the clinical effect of single-port laparoscopic appendectomy and traditional mult-port laparoscopic appendectomy in children with appendicitis. Methods The clinical data of 96 appendicitis children who had underwent laparoscopic appendectomy were retrospectively analyzed. Among the children, 48 children received single- port laparoscopic appendectomy (observation group), and 48 children received mult-port laparoscopic appendectomy (control group). The operation time, blood loss, postoperative exhaust time, postoperative hospital stay, incision length and surgery-related complications between 2 groups were compared. Results All children were operated successfully. There were no statistical differences in blood loss and postoperative hospital stay between 2 groups (P>0.05). The operation time, postoperative exhaust time and incision lengths in observation group were significantly lower than those in control group: (19.8 ± 5.3) min vs. (30.2 ± 8.1) min, (15.6 ± 4.7) h vs. (22.7 ± 6.5) h and (1.1 ± 0.2) cm vs. (2.3 ± 0.4) cm, and there were statistical differences (P<0.01). There was 1 case with incision infection in observation group, and the child was cured after symptomatic treatment. There was no other surgery-related complication in 2 groups, and all children recovered smoothly. Conclusions The single-port laparoscopic appendectomy is safe and feasible in children with appendicitis. It has short operation time, fast recovery of gastrointestinal function, and better cosmetic effect.
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Objective To analyze risk factors of continuous renal replacement therapy (CRRT) in patients with severe serum creatinine levels elevation undergoing off-pump coronary artery bypass grafting (OPCABG).Methods The perioperative data of 45 patients with severe elevation of preoperative serum creatinine levels undergoing OPCABG were investigated based on the perioperative CABG database from Feb, 2012 to Jul, 2016.The postoperative treatment rates of CRRT were recorded and the risk factors were identified by multivariate logistic regressions.Results There were 9 patients (20%) who suffered from CRRT after OPCABG in all 45 recruitment patients.Compared with non-CRRT patients, there were higher levels of serum creatinine (Cr) and blood urea nitrogen (BUN) before surgery, a lower volume of urine during surgery, a higher level of serum creatinine at postoperative 12 hour and 24 hour, longer ICU staying time and higher in-hospital mortality after surgery in patients with CRRT (P＜0.05 or P＜0.01).Multivariate logistic regression analysis demonstrated that preoperative level of serum creatinine (OR=1.05, 95% CI 1.05-1.10, P=0.046) was the independent risk factor of postoperative CRRT in patients with severe serum creatinine levels elevation undergoing OPCABG.At the value of postoperative 12 hour serum creatinine up to 166 μmol/L, the incidence of postoperative CRRT in patients increased 5% by postoperative 12 hour serum creatinine increasing 1 μmol/L(OR=1.05, 95% CI 1.01-1.08, P=0.013).However at the value of postoperative 12 hour serum creatinine above 350 μmol/L, ceiling effect was apparent.Conclusion This study shows that 20% patients with preoperative severe serum creatinine level elevation are suffered from CRRT after OPCABG procedure and preoperative level of serum creatinine is predominant factor of postoperative CRRT.
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Objective To investigate the short- and mid-term outcomes of after off-pump coronary artery bypass grafting (OPCABG) in patients with severe elevation of preoperative serum creatinine levels (SEPSC). Methods The perioperative data of SEPSC patients undergoing OPCABG were investigated based on the perioperative CABG database from Feb. 2012 to Jul. 2016. The patients were also followed up for the perioperative complication, short and medium-term survival were estimated. Results The mean age of the patients was 65.4(45-85) years. The in-hospital mortality was 4.4% and the CRRT rate was 19.6%(9 case). Survival analyses revealed a survival ratio of 100% at one year, 97.6% at two years. Short-Form Mini Nutritional Assessment was used to show that 13(28.3%) patients had malnutrition. Conclusions SEPSC patients can be candidates for OPCABG procedure. The mortality in hospital and 2-year survival rate of SEPSC patients after OPCABG procedure are both considered within an acceptable range. OPCABG may be performed in these patients with a satisfactory survival rate with the development of surgical instruments and medical treatment.
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Objective To investigate the safety and efficiency of laparoscopic gallbladder - preserving chole-lithotomy in the treatment of cholecystolithiasis in children. Methods The clinical data obtained from 18 children with gallstones undergoing laparoscopic gallbladder - preserving cholelithotomy at Dalian Children′s Hospital of Dalian Medi-cal University during July 2010 and December 2016 were retrospectively analyzed. Eight boys and 10 girls of 5 - 14 years old [mean (9. 2 ± 3. 1)years old]were included in the study,of whom 11 cases had a single stone,7 cases with multiple stones. All patients were followed up for 3 - 72 months. Results All of 18 patients without pancreaticobiliary maljunction were diagnosed by Color Doppler ultrasound and magnetic resonance cholangiopancreatography(MRCP). Gallbladder functions were assessed preoperatively and they were all in good condition. Laparoscopic gallbladder - pre-serving cholelithotomy was successfully performed in all patients without conversion to cholecystectomy. Operation time was 28 - 66 min,with mean value of (40. 2 ± 14. 3)min;intraoperative blood loss was 4 - 12 mL,with mean value of (8. 3 ± 2. 8)mL;postoperative hospital stay lasted 3 - 5 d,with mean value of (3. 8 ± 1. 2)d. There were no complica-tions such as bile leakage,postoperative bleeding,biliary duct damage,biliary pancreatitis during therapy. The patients were followed up for 3 - 72 months,and the Color Doppler ultrasound showed no gallstone recurrence after surgery. Conclusions For children with good gallbladder function,laparoscopic gallbladder - preserving cholelithotomy can preserve gallbladder function and the integrity of biliary tract. The operation is easy and reliable,with minimal invasion, quick recovery,and low recurrence rate. It is a feasible method for the treatment of gallstones in children.
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Objective To understand the self-efficacy for health behaviors and its influencing factors among investigation of rural chronic obstructive pulmonary disease (COPD) high-risk groups.Methods November 2014 using the general questionnaire,Health Behavior Self-efficacy Scale for 176 over 40 yearsold of high-risk populations in rural COPD self-efficacy and health behavior factors research.Results In rural areas at high risk of health behavior self-efficacy scored (71.75±7.68) points,including nutrition and psychological comfortable highest scores which were (14.86±2.03) points and (19.75±3.03) points.Exercise and health responsibilities lower scored 18.90±2.87 and 18.42±2.52.Multiple regression analysis showed that marital status,education level and income were the main factors affecting rural health behavior at high risk of COPD self-efficacy (β=0.384,0.297,0.236,P ＜0.05).Conclusions COPD risk populations in rural areas at the middle level of health behavior self-efficacy,nurses should be given a lower level of education and income were more concerned to help them improve the health behavior self-efficacy.
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Objective To investigate the health behavior and the exposure rate of risk factors of rural population with high risk of chronic obstructive pulmonary disease (COPD).Methods A total of 176 cold region rural COPD high-risk persons were recruited and investigated with Health-Promoting Lifestyle Profile Ⅱ (HPLP Ⅱ),Health Behaviour Self-efficacv Scale,general information questionnaire.Results The total score of HPLP was (92.70±11.22) points in the rural area of COPD,and the scores of the nutrition and interpersonal relationship were the highest,which were (20.06±2.75) points,(19.30±3.16) points,health responsibility and sports dimension were lower,which were respectively (13.74±2.60) points,(9.85±2.80) points.Health behavior self-efficacy scored (71.75±7.68) points,which showed significant correlation with HPLP Ⅱ score (P ＜ 0.01).Conclusions COPD high-risk population of the cold area health promoting lifestyle and health behavior self-efficacy level are not high.Improving mral population at higher risk of COPD health behavior and self-efficacy level can form good healthy lifestyle and behavior.
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Objective To investigate the efficacy and safety of combined with aripiprazole to improve hyper-prolactinemia caused by antipsychotic drugs.Methods 70 patients with schizophrenia who had been treated with antipsychotic drugs for 4 weeks prior to the study were divided into the two groups by random number table method:the treatment group(35 cases)were given each additionally 2.5 mg of aripiprazole oral,one time every day.The con-trol group (35 cases)continued with no extra management.The treatment group on the basis of the original drug administered daily in combination with aripiprazole 2.5mg,the control group maintained the previous drug treatment. Serum prolactin concentrations were assayed in patients of both groups before treatment and after 4 weeks treatment. At the same time,used the positive and negative symptom scale (PANSS)to assess the state of the clinical symptoms. The side effects were evaluated by Treatment Emergent Symptom Scale(TESS).Results After combined with aripi-prazole,it demonstrated that serum prolactin level in patients of the treatment group were significantly lowered [(78.64 ±30.15)μg/L vs (35.01 ±13.99)μg/L,t=9.585,P0.05].There were no significant differences between the two groups of PANSS and TESS scores(all P>0.05 ).Conclusion Combined with aripi-prazole for antipsychotic-induced hyperprolactinemia have a therapeutic effect and relatively safe.
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Objective To investigate the clinicopathologic features of the brain tissue from multilobar resection or hemispherectomy for refractory epilepsy. Methods The clinical and pathologic findings of 46 cases seen at Xuanwu hospital from 2005 to 2009 were reviewed retrospectively. Results The mean age of seizure onset and disease duration were 3.9 years and 10.2 years, respectively. There were 33 cases of hemispherectomy and 13 cases of multilobar resection. Temporal lobe abnormality was seen in all cases. The pathologic subgroups were as follows: ulegyria (31/46), malformation of cortical development (MCD, 7/46 ) and infection (8/46). Microscopic examination of ulegyria showed cortical architectural disturbances, neuronal loss, reactive gliosis and appearance of corpora amylacea. We also noted deposition of hemosiderin (13 cases), calcification (9 cases) and island-like neurons (5 cases). All ulegyria cases were accompanied by varying degree of cortical dysplasia, and hippocampus sclerosis were identified in 7 cases. MCD comprised of 5 cases of focal cortical dysplasia ( FCD), including 3 cases of FCDⅠB, 1 case of FCDⅡA and 1 case of FCDⅠA, 1 case of polymicrogyria and 1 case of porencephaly. Among 8 infection eases, there were 5 cases of Rasmussen encephalitis ( RE), l case of cysticercosis, 1 case of tuberculous meningitis and l case of Cytomegalovirus encephalitis. Conclusions The most common pathological category of specimens from hemispherectomy or multilobar resection is ulegyria with obvious temporal lobe abnormality. This is followed by MCD ( with FCDⅠB as the main type) and central nervous system infection (RE as the most frequent abnormality).