1.Clinical investigation and genetic analysis of a Chinese family with glutaric acidemia type I.
Xiaorong SHI ; Zhongling KE ; Aidong ZHENG ; Wenhuang XIE ; Guiling MO
Chinese Journal of Medical Genetics 2014;31(5):608-611
OBJECTIVETo review the clinical features of a families affected with glutaric acidemia type I (GA-1) and screen potential mutations in glutaryl-CoA dehydrogenase (GCDH) gene.
METHODSClinical data of the patients and their family members was analyzed. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.
RESULTSTwo patients have manifested macrocephaly. Imaging analysis revealed arachnoid cyst and subdural effusion. The elder sister had encephalopathy crisis. The younger sister had significantly raised glutaric acid, whilst the elder sister was normal during the non-acute phase. Genetic analysis has revealed a homozygous c.1244-2A> C mutation of the GCDH gene in both patients.
CONCLUSIONThe clinical features and mutation of the GCDH gene have been delineated in a Chinese family affected with GA-1. The c.1244-2A> C mutation may be particularly common in the Chinese population.
Adolescent ; Amino Acid Metabolism, Inborn Errors ; diagnostic imaging ; enzymology ; genetics ; Base Sequence ; Brain Diseases, Metabolic ; diagnostic imaging ; enzymology ; genetics ; China ; DNA Mutational Analysis ; Family Health ; Female ; Genetic Predisposition to Disease ; genetics ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Homozygote ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Mutation ; Radiography
2.Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease.
Xiaorong SHI ; Xi LIN ; Zhonglin KE ; Shuqing CHEN ; Bin WU ; Guiling MO
Chinese Journal of Medical Genetics 2017;34(2):220-223
OBJECTIVETo delineate the clinical features and potential mutation of the ATP7A gene in a family affected with Menkes disease.
METHODSClinical data of a patient and his family members were analyzed. Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) assays were performed to detect the mutation of the ATP7A gene.
RESULTSThe patient was admitted at the age of 5 months due to severe epilepsy and marked delayed psychomotor development. Significantly light complexion, pudgy cheeks and sparse fuzzy wooly hair were noted. Cranial magnetic resonance imaging and angiography revealed cortical atrophy, leukoencephalopathy and circuitous of intracranial vessels. The plasma ceruloplasmin was decreased. MLPA has identified a deletion spanning exons 8 to 12 of the ATP7A gene. His mother was found to be a heterozygous carrier of the same mutation.
CONCLUSIONThe clinical features and a novel mutation of the ATP7A gene of the family have been delineated.
Adenosine Triphosphatases ; genetics ; Adult ; Asian Continental Ancestry Group ; genetics ; Cation Transport Proteins ; genetics ; China ; Copper-transporting ATPases ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Male ; Menkes Kinky Hair Syndrome ; genetics ; Mutation ; Pedigree
3.Clinical and variation analysis of three Chinese families affected with glutaric acidemia type 1.
Xiaorong SHI ; Zhonglin KE ; Aidong ZHENG ; Wenhuang XIE ; Guiling MO
Chinese Journal of Medical Genetics 2018;35(6):796-799
OBJECTIVE:
To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes.
METHODS:
Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing.
RESULTS:
The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic.
CONCLUSION
Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.
Amino Acid Metabolism, Inborn Errors
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diagnosis
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genetics
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Brain Diseases, Metabolic
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diagnosis
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genetics
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China
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DNA Mutational Analysis
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Glutaryl-CoA Dehydrogenase
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deficiency
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genetics
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Humans
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Mutation
4.Connexin 43 and tumors
Xiaorong WEN ; Hongmei MO ; Tao GUO ; Mengting DING
Journal of International Oncology 2018;45(1):32-34
Cell gap junction is a special protein channel.Gap junction-mediated exchange of information between cells is crucial for cell growth,differentiation and tissue homeostasis.Connexin 43 (Cx43) is one of the members of the gap junction protein family.In recent years,researches show that abnormal Cx43 gene expression leads to the cell gap junctional communication dysfunction,which is closely related to the occurrence,metastasis and prognosis of a variety of tumors.Cx43 is expected to become a new target for clinical diagnosis and treatment of tumors.
5.Application of catheter information platform based on failure mode and effect analysis in preventing central venous catheter-related infection in intensive care unit
Jiaqing XU ; Minhua MO ; Yingying GAO ; Wenting ZHANG ; Shengfang LI ; Wenjuan LAI ; Xiaorong DING
Chinese Journal of Practical Nursing 2023;39(24):1846-1852
Objective:To investigate the effect of failure mode and effect analysis (FMEA) based catheter information platform in preventing catheter-related bloodstream infection (CRBSI) in intensive care unit to improve the current status of CRBSI.Methods:In this study, a retrospective cohort study was conducted using the purposive sampling method, and 140 patients with indwelling central venous catheters admitted to the ICU of Peking University Shenzhen Hospital from August to December 2021 were set as the control group; the 140 patients with indwelling central venous catheters admitted to the ICU from January to May 2022 were set as the observation group. The control group used electronic forms to record and manage at the bedside after CRBSI cluster nursing measures were given, and the observation group used the catheter information platform based on FMEA to conduct information management on catheter evaluation and maintenance process after CRBSI cluster nursing measures were given. Compared the implementation rate (6 items), implementation time, qualification rate, and incidence of CRBSI in ICU patients between two groups of ICU nurses.Results:The implementation rate of CRBSI cluster nursing measures among ICU nurses in the observation group: strict hand hygiene by nurses was 87%(122/140), maximum aseptic barrier during puncture was 97%(136/140), aseptic operation during catheter maintenance was 91%(128/140), 75% alcohol disinfection of connectors was 84%(118/140), 24-hour change of infusion lines was 95%(133/140), and timely change of patches/dressings was 89%(125/140), they were greater than those in the control group 70%(98/140), 87%(122/140), 71%(100/140), 61%(86/140), 71%(99/140), 69%(96/140), the differences were statistically significant ( χ2 values were 9.67 to 29.07, all P<0.05); the execution time and qualification rate among ICU nurses in the observation group were (9.11 ± 2.83) minutes and 91.4% (128/140), the control group were (10.00 ± 2.84) minutes and 60.7% (85/140), with statistically significant differences ( t value was -2.64, χ2 values was 36.28, all P<0.05). Conclusions:The FMEA-based catheterization information platform can help enhance the efficiency of the implementation of CRBSI clustering nursing measures by ICU nurses, improve the quality of care, and thus reduce the occurrence of CRBSI, and the feasibility of clinical promotion is high.
6.Exploration and practice of patient satisfaction evaluation management in multi-campus public hospitals
Weiqi ZHANG ; Rong ZHAO ; Haoning WANG ; Songxuan YU ; Jiayu MO ; Xiaorong WU ; Yang WEN ; Shulei FAN ; Yanli SHEN ; Huiyun YUAN
Chinese Journal of Hospital Administration 2022;38(4):280-284
Patient satisfaction is one of the core indicators to measure the service quality of medical institutions. To this end, a multi-campus public hospital in Shanghai constructed a management system of patient satisfaction evaluation. Since 2021, its call center has conducted a full coverage satisfaction assessment for discharged patients from its three campuses and collected dissatisfaction information feedback. The hospital organized relevant clinical departments and functional departments to fully communicate with the dissatisfied patients according to the feedback information, followed by a joint rectification. The hospital regularly conducts in-depth analysis of all complaints for timely discovery of common problems in different campuses for continuous improvement. This practice can provide reference for multi-campus hospitals to promote homogeneous management, to improve management efficiency, service quality and patient satisfaction.
7.Effect of home diabetes care platform based on internet and family fixed partner on the continuous care of diabetes patients outside the hospital
Xiaolin YUE ; Qin CHEN ; Yun YE ; Minxing YANG ; Jingbo WAN ; Yongzhen MO ; Xiaorong HUO
Chinese Journal of Practical Nursing 2018;34(16):1216-1221
Objective To investigate the effect of home diabetes care platform based on internet and family fixed partner on the continuous care of diabetes patients outside the hospital.Methods A total of 150 out-patients with diabetes were collected from June 2016 to November 2016,divided into family fixed partner group(group A),smart phone APP home diabetes care platform group(group B),family fixed partner combination with smart phone APP home diabetes care platform group(group C)with 50 cases each by random digits table method.The three groups received the same health education during their stay in hospital,patients in group A and group C were required to have family fixed partners,patients in group B and group C were required to receive the home diabetes care platform for smart phones APP after they left the hospital,the intervention time was six months,and the indexes of blood glucose metabolism,self-management ability of diabetes were assessed at the end of six months after intervention and before intervention.Results Fasting blood glucose and postprandial blood glucose and glycosylated hemoglobin values of the three groups after intervention were lower than those before intervention.The postprandial blood glucose and glycosylated hemoglobin values was(9.96±4.23)mmol/L,(7.16±1.47)%in group C,(13.78±3.34),(11.46±4.85)mmol/L and(8.46±2.21)%,(8.07±2.45)%in group A and B,the difference was significant(F=10.57,3.92,P<0.05).The scores of self-management ability of diabetes of the three groups after intervention were all higher than those before intervention.The score of self-management ability of diabetes of item 1-6 was(6.45±1.65),(4.87±2.23),(6.17±2.12),(5.24±1.65),(4.67±2.13),(6.27±2.02)points in group C,(5.78±1.96),(3.63±2.14),(5.25±2.34),(4.12±1.97),(3.65±1.34),(5.26±2.21)points in group B,(5.04±1.78),(3.37±1.64),(4.63±1.87),(4.03±2.17),(3.32±1.74),(5.30±1.97)points in group A,the difference was statistically significant(F=3.82-7.94,P<0.05).Conclusions Home diabetes care platform based on internet,combined with family fixed partner education,are more conductive to patient blood sugar control,and enhance self-management ability and account ability.
8.Mediating effect of children's effortful control between home environment and emotional behavioral problems among preschool children with malignant tumors
Xiaorong PAN ; Lin MO ; Qian LIU ; Xianqiao HUANG ; Shiqun ZHANG ; Xiaoli GUO
Chinese Journal of Behavioral Medicine and Brain Science 2020;29(7):629-634
Objective:To explore the mediating effect of children's effortful control on the relationship between home environment and children's behavioral emotional problems in preschool children with malignant tumors and to provide evidences for family intervention on behavioral emotional problems in children.Methods:Totally 353 preschool children with malignant tumors were investigated with family adaptation and cohesion evaluation scales II (FACES II), child behavior questionnaire-very short form(CBQ-VSF) and strengths and difficulties questionnaire (SDQ), AMOS 22.0 software was used to construct a structural equation model in data analysis and the Bootstrap method was used to test the mediation effect.Results:The scores of family adaptation and cohesion, children's effortful control, difficulty questionnaire were(51.63±12.41), (55.43±10.16), (3.23±0.80) and (13.75±3.66). The scores of dimensions including emotion, conduct, hyperactivity, peer problems, prosocial of difficulty questionnaire were(2.83±0.90), (2.73±0.96), (2.67±0.93), (2.76±0.85), (2.67±0.85), respectively. Family adaptation and cohesion were positively correlated with children's effortful control ( r=0.244, 0.289, P<0.01). Children's effortful control was negatively correlated with children's behavioral emotional problems ( r=-0.365--0.302, all P<0.05). Family adaptation and cohesion were negatively correlated with children's behavioral/emotional problems ( r=-0.323--0.124, r=-0.342--0.181, all P<0.05). The direct effect value was -0.469, indirect effect value was -0.102, accounting for 17.86% of the total effect. Conclusion:Children's effortful control exert a significant mediating effect on the relationship between home environment and children's behavioral/emotional problems in preschool children with malignant tumors, suggesting that medical staff should pay attention to the level of effortful control of preschool children with malignant tumors in order to take effective actions to reduce children's behavioral/emotional problems and improve social applicability.
9.Relationship between non-high density lipoprotein cholesterol and leptomeningeal collaterals in patients with acute middle cerebral artery occlusion
Yi AN ; Yanfang YUN ; Guixin YANG ; Haiyan CHEN ; Yong-Ming JIANG ; Dongxu HUANG ; Xiaorong MO ; Xiaolan LI ; Baoyin WEI ; Yingjie ZHOU ; Xuebin LI ; Jianmin HUANG
The Journal of Practical Medicine 2023;39(24):3200-3204
Objective To explore the relationship between non-high density lipoprotein cholesterol(non-HDL-C)level and leptomeningeal collateral circulation in patients with acute middle cerebral artery occlusion.Methods A total of 85 patients with first-onset acute cerebral infarction with middle cerebral artery M1 segment occlusion were enrolled.According to the results of DSA,LMC circulation was assessed by American Society of Interventional and Therapeutic Neuroradiology/Society of Interventional Radiology Collateral Circulation Assess-ment System.All patients were assigned to better LMC circulation group(score 2~4,n = 30)and worse LMC circulation group(score 0~1,n = 55),and the levels of non-HDL-C were compared between the two groups.Results The levels of LDL-C and non-HDL-C in worse LMC circulation group were significantly higher than those of the better LMC circulation group(P = 0.026,P = 0.010).non-HDL-C was an independent risk factor for the worse LMC circulation(OR = 3.019,95%CI:1.053~8.658,P = 0.04).LMC circulatory score of patients was negatively correlated with the levels of non-HDL-C level(r =-0.228,P = 0.036).The AUC of non-HDL-C predicted for the worse LMC circulation was 0.638(95%CI:0.521~0.755,P = 0.036).Conclusions non-HDL-C in patients with acute cerebral infarction was significantly related to worse LMC circulation,and was a risk factor for worse LMC circulation.It is suggested that the higher expression of non-HDL-C could be used to predict worse LMC circulation as a serological indicator.