1.Detection and clinical value of novel GATA6 mutations associated with congenital atrial septal defects
Guifen ZHENG ; Hong ZHAO ; Dong WEI ; Ning ZHOU ; Xingyuan LIU
Chinese Journal of Laboratory Medicine 2012;(12):1108-1111
Objective To identify novel mutations in the GATA6 gene associated with congenital atrial septal defects (ASD).Methods This was a case-control study.A cohort of 220 unrelated Han-race patients with congenital ASD and 200 unrelated ethnically matched healthy individuals used as controls,who were admitted to Tongji University Affiliated Tongji Hospital from January,2007 to October,2011,were recruited.The peripheral venous blood samples from the participants were prepared.All the coding exons and their flanking sequences of the GATA6 gene were amplified by polymerase chain reaction and sequenced using the di-deoxynucleotide chain termination technique.The acquired sequences were aligned with the sequences derived from GenBank by BLAST to identify the sequence variations.The software ClustalW was used to analyze the conservation of the altered amino acids.Results Three novel heterozygous missense GATA6 mutations,c.250G >A (p.A84T),c.649G >C (p.G217R) and c.1270A >C (p.S424R),were identified in 3 of 220 ASD patients,respectively.None of the three mutations was detected in 200 healthy control individuals.A cross-species alignment of GATA6 encoded protein sequences showed that the mutated amino acids were relatively conserved evolutionarily.Conclusion The identification of novel GATA6 mutations associated with ASD contributes to the reveal of the mechanism involved in the pathogenesis of ASD.
2.Effects of aging on liver and heat shock protein 70 expression in rats
Ying ZHANG ; Guifen MA ; Yan ZHUANG ; Shiyao CHEN ; Songbai ZHENG
Chinese Journal of Geriatrics 2012;31(5):430-433
Objective To observe the effects of aging on liver and heat shock protein (HSP)70 expression in rats,and explore the role of HSP 70 in the changes of aging liver. Methods 24 healthy Sprague Dawley rats were divided into 4 groups according to age:21-day-old group,3-monthold group,12-month-old group and 18-month-old group (n=6 per group).Routine blood tests and biochemical tests were tested. Liver tissues were observed under light microscopy. The mRNA expression of HSP70 was detected by real-time PCR. Results The ratios of liver weight to body weight were decreased gradually with aging in 4 groups (0.073,0.050,0.025,0.019,respectively,t=78.016,P =0.000).Compared with those of young rats (21-day-old and 3-month-old),serum albumin levels of aged rats (12-months and 18-months) were declined [(35.0±2.7) g/L and (39.8±3.5) g/L vs.(27.3±9.3) g/L and (20.6± 1.7) g/L,t=12.233,P=0.000].Nevertheless serum alkaline phosphatase (ALP) levels were increased with aging [(68.8± 23.3) U/L,(71.6 ± 19.2)U/L,( 185.9 ± 41.5) U/L,(418.6 ± 140.6) U/L,respectively,t =35.454,P=0.000].The differences in other routine biochemical indexes were not found among the age groups (P>0.05).Liver histological changes including hepatocytes disordered and vacuolization or fatty changes were detected with aging,especially in 18 month-old rats. Real-time PCR results indicated that the expression level of HSP70 mRNA was much lower in 18-month-old rats than in 12-month-old and 3-month-old rats (0.218 vs.0.220 and 0.230,P=0.000). Conclusions HSP70,as a stress protein,may play an important role in the procedure of injury and senescence of liver cell,and then can serve liver aging as one of the influential markers.
3.Effect of Inflatable Shoulder Harness on Hemiplegia Subluxation of Shoulder Joint
Yanzhen BI ; Zhixiong ZHENG ; Kangzeng LI ; Guifen WANG
Chinese Journal of Rehabilitation Theory and Practice 2011;17(5):452-453
Objective To observe the therapeutical effect of inflatable shoulder harness on hemiplegia subluxation of shoulder joint.Methods 68 stroke patients with hemiplegia subluxation of shoulder joint were divided into two groups: the experiment group (n=34) and the control group (n=34). All the patients accepted routine rehabilitation for subluxation of shoulder joint, meanwhile, the experiment group wore inflatable shoulder harness. The interval between acromion and caput humeralis were measured according to the X-ray before and after treatment, as well as the Fugl-Meyer Assessment and Visual Analogue Scale (VAS) of shoulder pain. Results After 8 week of treatment, the rate of diaplasis or improvement was not different significantly between these groups (P<0.05). Compared to the control group, the incidence and VAS score of shoulder pain, and the score of Fugl-Meyer Assessment improved significantly after the treatment (P<0.05). Conclusion On the basis of routine rehabilitation, inflatable shoulder harness may reduce the incidence and grade of shoulder pain, improve motor function of hemiplegic upper limb further in hemiplegia subluxation of shoulder.
4.Rehabilitative nursing of patients with pectoralis minor muscle transplantation for recovery of thumb oppositional function
Guifen WEN ; Ping LI ; Changmei XIONG ; Yongling GAO ; Miaoxia CAI ; Ruiying XIE ; Yan ZHENG ; Yongqing ZHUANG
Chinese Journal of Practical Nursing 2008;24(18):1-3
Objective We reported the rehabilitative nursing points of patients with pectoralis minor muscle transplantation for recovery of thumb oppositional function. Methods We selected 10 patients who underwent pectoralis minor muscle transplantation for recovery of thumb oppositional function and gave them perfect preoperative examination and psychological nursing. We also implemented rigorous monitoring postoperation and auxiliary electric stimulation and functional exercises. The emphasis was put on the exercise of thumb oppositional function. Results The thumb oppositional function of all the ten patients recovered. The myodynamia reached level 4 and the shape of thenar was satisfying after 6 to 12 months of follow-up visit. Conclusions Sufficient preoperative psychological nursing and effective postoperative rehabilitative treatment had pivotal significance for the success of operation and the recovery of thumb oppositional function.
5.Therapeutic effect of atomized inhalation of Budesonide for chronic cough after Mycoplasma pneumoniae infection in children
Guifen ZHENG ; Xiaohong QIAO ; Shuanglong LU ; Zhuli BIAN ; Rui GENG
Chinese Journal of Applied Clinical Pediatrics 2017;32(22):1705-1708
Objective To investigate the therapeutic effect of Budesonide inhalation for the children with chronic cough after Mycoplasma pneumoniae infection and its influence on the improvement of sleep quality.Methods One hundred children with chronic cough after Mycoplasma pneumoniae infection treated at Shsnghai Tongji Hospital(Tongji Hospital Affiliated to Tongji University) were selected from June to December 2016,and they were randornly divided into the Budesonide group and the Azithromycin group.The Budesonide group received the Budesonide inhalation,the atomized inhalation 1 mg each time,2 times a day,for 3 consecutive days,and 3 days later,they received ato-mization treatment once a day,for a total of 7 days.The patients in the Azithromycin group were given oral the Azithromycin treatment 10 mg/(kg · d) for 3 days.The efficacy and sleep scores of 2 groups were compared during the period.Results The cure rate of cough in the Budesonide group[8.0% (4/50 cases),32.0% (16/50 cases),38.0% (19/50 cases)]was higher than those in the Azithromycin group[0 (0/50 cases),4.0% (2/50 cases),6.0% (3/50 cases)] during 3,7,14 days,and the differences were all statistically significant (x2 =4.167,13.279,14.918,all P <0.05).The improvement rates of cough in the Budesonide group [28.0% (14/50 cases),28.0% (14/50 cases),26.0% (13/50 cases)]were higher than those in the Azithromycin group[10.0% (5/50 cases),10.0% (5/50 cases),8.0% (4/50 cases)] in treatment 3,7,14 days,and the differences were all statistically significant (x2 =5.263,5.263,5.741,all P < 0.05).Nighttime sleep scores returned to normal ratio and improvement rates during 3,7,14 days in the Budesonide group [8.0% (4/50 cases),32.0% (16/50 cases),42.0% (21/50 cases);30.0% (15/50 cases),30.0% (15/50 cases),30.0% (15/50 cases)],which were significantly higher than those in the Azithromycin group [0(0/50 cases),4.0% (2/50 caes),6.0% (3/50 cases);12.0% (6/50 cases),12.0% (6/50 cases),10.0% (5/50 cases)],and the differences were all statistically significant (all P < 0.05).Conclusions The inhalation of Budesonide can effectively treat chronic cough in children with Mycoplasma pneumoniae infection in children,and significantly improve the quality of sleep.Chronic cough after Mycoplasma pneumoniae infection may be related to airway hyperresponsiveness due to nonspecific inflammation.Inhaled corticosteroids should be selected rather than anti infective therapy.
6.The lesion characteristics and predictors of obstructive coronary artery disease with anatomy-function mismatch
Mengdi JIANG ; Xiaolei ZHANG ; Yang HOU ; Minwen ZHENG ; Jiayin ZHANG ; Bo ZHANG ; Daimin ZHANG ; Lei XU ; Xiuhua HU ; Yining WANG ; Jian YANG ; Hui LIU ; Fan ZHOU ; Guifen YANG ; Longjiang ZHANG
Chinese Journal of Radiology 2021;55(12):1287-1293
Objective:To explore the lesion characteristics and predictors of invasive coronary angiography (ICA)-verified obstructive lesions with fractional flow reserve (FFR)>0.80, that is, anatomy-function mismatch.Methods:A total of 515 obstructive vessels in 419 coronary disease patients from 11 Chinese medical centers undergoing coronary CT angiography and ICA and FFR were retrospectively analyzed. All vessels had one target lesion with diameter stenosis ≥50 % by ICA. There were 229 vessels in the match group (FFR≤0.80) and 286 vessels in the mismatch group (FFR>0.80). The lesion characteristics including lesion territory, the distance of the coronary artery ostium to the proximal end of the lesion, minimum lumen area, reference lumen area, plaque length and burden, plaque volume and component volume, remodeling index and plaque morphological complexity were measured and compared between the two groups. Optimal thresholds of quantitative plaque characteristics were defined by Yoden index. Logistic regression analysis was used to analyze the predictors of anatomy-function mismatch. Area under receiver operating characteristic curve (AUC) was used to analyze the ability of different lesion features to predict mismatched lesions.Results:The coronary stenosis, plaque burden and length, plaque volume (including each component volume) in the mismatch group were smaller than those in the match group, and FFR, minimum lumen area were larger (all P<0.05). Left anterior descending artery (LAD) lesion and severe complex plaque were more common in the match group than the mismatch group with a statistically significant difference. Univariate logistic regression analysis showed that LAD lesion, minimum lumen area>4 mm 2, plaque burden and length, plaque calcification volume<27 mm 3, plaque lipid volume<30 mm 3, plaque fiber volume<150 mm 3 and plaque morphological complexity were predictiors of anatomic function mismatched lesions; Multivariate logistic regression showed that the minimum lumen area>4 mm 2 (OR=3.371, 95%CI 1.903-5.973, P<0.001), plaque lipid volume<30 mm 3 (OR=3.014, 95%CI 1.691-5.373, P<0.001), plaque morphological complexity (mild OR=17.772, 95%CI 8.072-39.128, P<0.001, moderate OR=6.383, 95%CI 3.739-10.896, P<0.001) were independent predictors of mismatched lesions. The AUC of the model based on the minimum lumen area, plaque lipid volume and morphological complexity was 0.824, which was superior to either of the plaque feature alone ( P<0.001). Conclusions:The minimum lumen area, lipid volume and plaque morphological complexity are independent predictors of the anatomical-functional mismatch lesions, and the combination can significantly improve the prediction value.