Objective This study aims to explore the application effectiveness of the PDCA cycle method in preventing and reducing internal errors in the intravenous drug dispensing center(PIVAS).Methods Internal error data from our hospital's PIVAS in 2020 and 2021 were collected.The data from 2020 represented the pre-implementation of the PDCA cycle,while the data from 2021 represented the post-implementation period.The changes in internal errors and error rates before and after imple-mentation were compared.Results After implementing the PDCA cycle management measures,the annual error rate decreased from 0.887％o in 2020 to 0.681‰ in 2021,a decrease of 23.22％.Conclusion The PDCA cycle method can effectively reduce the occurrence of internal errors,improve work accuracy,and ensure the safety of clinical drug use in PIVAS.

Objective This study aims to explore the application effectiveness of the PDCA cycle method in preventing and reducing internal errors in the intravenous drug dispensing center(PIVAS).Methods Internal error data from our hospital's PIVAS in 2020 and 2021 were collected.The data from 2020 represented the pre-implementation of the PDCA cycle,while the data from 2021 represented the post-implementation period.The changes in internal errors and error rates before and after imple-mentation were compared.Results After implementing the PDCA cycle management measures,the annual error rate decreased from 0.887％o in 2020 to 0.681‰ in 2021,a decrease of 23.22％.Conclusion The PDCA cycle method can effectively reduce the occurrence of internal errors,improve work accuracy,and ensure the safety of clinical drug use in PIVAS.

Objective To investigate the effect of tiopronin on renal function during anti-tuberculosis liver protection therapy.Methods Clinical data of patients with initially treated sensitive tuberculosis treated in our hos-pital from September 2019 to September 2022 and whose anti-tuberculosis regimen was only isoniazid,rifampicin,pyrazinamide and ethambutol were retrospectively analyzed.The patients were divided into study group and control group according to whether tiopronin was used.The baseline data,blood creatinine(Scr),blood urea nitrogen(BUN),urine protein,creatinine clearance,drug combination and related adverse reactions of the two groups were compared.Results Patients obtained based on inclusion and exclusion criteria were divided into a study group(n=102)(antitubercular drugs+tiopronin)and a control group(n=105)(antitubercular drugs+glutathione).There were no statistically significant differences(P＞0.05)in ALT,AST,DBIL,and TBIL levels between the two groups before treatment,at Middle and late treatment.At the later stage of treatment,serum Scr,BUN,creatinine clearance and urinary protein showed statistical differences between the study group and the control group(P＜0.05).The abnormal rate of indicators and the incidence of adverse reactions in the study group were higher than those in the control group at the later stage of treatment(P＜0.05).Conclusion For patients undergoing tuberculosis treatment,the efficacy of tiopronin and glutathione in protecting the liver is comparable.However,in terms of renal function,long-term use of tiopronin is associated with more pronounced damage.Due to the relatively low cost of tiopronin,for families with heavy economic burdens,short-term use of the drug can ensure safety,while long-term use requires close monitoring of renal function changes and timely adjustments to medication.

Objective To investigate the effect of tiopronin on renal function during anti-tuberculosis liver protection therapy.Methods Clinical data of patients with initially treated sensitive tuberculosis treated in our hos-pital from September 2019 to September 2022 and whose anti-tuberculosis regimen was only isoniazid,rifampicin,pyrazinamide and ethambutol were retrospectively analyzed.The patients were divided into study group and control group according to whether tiopronin was used.The baseline data,blood creatinine(Scr),blood urea nitrogen(BUN),urine protein,creatinine clearance,drug combination and related adverse reactions of the two groups were compared.Results Patients obtained based on inclusion and exclusion criteria were divided into a study group(n=102)(antitubercular drugs+tiopronin)and a control group(n=105)(antitubercular drugs+glutathione).There were no statistically significant differences(P＞0.05)in ALT,AST,DBIL,and TBIL levels between the two groups before treatment,at Middle and late treatment.At the later stage of treatment,serum Scr,BUN,creatinine clearance and urinary protein showed statistical differences between the study group and the control group(P＜0.05).The abnormal rate of indicators and the incidence of adverse reactions in the study group were higher than those in the control group at the later stage of treatment(P＜0.05).Conclusion For patients undergoing tuberculosis treatment,the efficacy of tiopronin and glutathione in protecting the liver is comparable.However,in terms of renal function,long-term use of tiopronin is associated with more pronounced damage.Due to the relatively low cost of tiopronin,for families with heavy economic burdens,short-term use of the drug can ensure safety,while long-term use requires close monitoring of renal function changes and timely adjustments to medication.

Objective To investigate HPV vaccine hesitancy and influencing factors among parents of primary and secondary schools in Guangyuan, and to provide scientific countermeasures for reducing the hesitancy rate of HPV vaccine in parents. Methods Using stratified multi-stage cluster random sampling, 1,018 parents of girls in primary and secondary schools in Guangyuan were selected for a questionnaire survey from March to July 2021. The data were analyzed by Chi-square test and multivariate logistic regression model. Results The hesitancy rate of HPV vaccine in parents was 42.95%. Multivariate logistic regression analysis showed that families with low economic income, parents who believed that HPV vaccination would have long-term side effects, and be unsafe and expensive, and parents who concerned with the effect of HPV vaccine on the prevention of cervical cancer and insufficient supply of first doses of vaccine, had positive effects on HPV vaccine hesitancy (OR = 2.02, 1.44, 3.13, 1.53, 3.76, and 2.43, respectively, P < 0.05). Conclusion HPV vaccine hesitancy rate is high among parents of primary and secondary schools in Guangyuan. It is necessary to fully promote school education and increase the publicity of HPV vaccine to improve parents' awareness of HPV vaccine. Government departments need to make an overall plan to reduce vaccine costs and ensure sufficient vaccine quantity, so as to reduce parents' hesitation to vaccinate their children with HPV vaccine.

Objective:To evaluate the activity of iduronate-2-sulfatase (IDS) in fetal villi and peripheral blood plasma of pregnant women at high risk of mucopolysaccharidosis type Ⅱ (MPS Ⅱ), and to discuss the application of gene analysis in prenatal diagnosis of MPS Ⅱ.Methods:The enzymatic testing and gene analysis results of 23 pregnant women at high risk of MPS Ⅱ, who underwent prenatal diagnosis in Guangzhou Women and Children′s Medical Center from February 2013 to December 2020, were analyzed retrospectively.The IDS activity in fetal villi (30 cases) and plasma (28 cases) was detected by artificial substrate fluorescence.The IDS activity in fetal villi (28 cases) and plasma (34 cases) of normal pregnant women was taken as control.Meanwhile, the fetal villi of both pregnant women at high risk of MPS Ⅱ and normal pregnant women were also analyzed by gene testing and for fetal sex identification.Data were compared between groups by the independent samples t test. Results:The normal reference values of the IDS activity in fetal villi and plasma of normal pregnant women were(71.2±23.4) nmol/(mg·4 h) and (611.1±114.5) nmol/(mL·4 h), respectively.Among the 30 cases of high-risk fetal villi, the IDS activity in fetal villi of 8 affected male fetuses was (1.7±0.3) nmol/(mg·4 h), which was significantly lower than that of 11 unaffected male fetuses (83.2±6.3) nmol/(mg·4 h) and that of 9 non-carrier female fetuses (80.0±7.5) nmol/(mg·4 h) ( t=10.8, 8.8; all P<0.01). Meanwhile, the IDS activity was measured in the maternal peripheral plasma of 28 pregnant women at high risk of MPS Ⅱ.Among them, the IDS activity in 8 affected male fetuses was(225.4±20.5) nmol/(mL·4 h), which was significantly lower than that in non-affected male fetuses[(451.0±15.1) nmol/(mL·4 h)] and that in non-carrier female fetuses[(467.7±45.3)nmol/(mL·4 h)]. Eight known pathogenic mutations were found in 30 cases at high risk of MPS Ⅱ of fetal villi, and the mutation types were c. 1048A>C, c.212G>A, c.514C>T, c.257C>T, c.425C>T, and c. 998C>T.Of the 8 cases, 6 affected male fetuses had significantly reduced IDS activities, and the other 2 female carriers had normal IDS enzyme activities. Conclusions:The IDS activity in fetal villi and peripheral plasma of pregnant woman is consistent with the gene analysis results.The IDS activity has an important reference value for the prenatal diagnosis of MPS Ⅱ in the first trimester.When no genetic mutations are found in the probands or the pathogenicity of the new mutation remains unclear, the IDS activity in fetal villi can be detected separately for the prenatal diagnosis of MPS Ⅱ.

Objectives:To explore the GAA varient spectrum and the genotype-phenotype correlations in patients with glycogen storage disease type Ⅱ (Pompe disease, PD), as well as to estimate the disease incidence based on carrier rate of GAA varients in Guangzhou population.Methods:A total of 57 PD cases were retrospectively enrolled at Guangzhou Women and Children′s Medical Center from January 1, 2010 to May 31, 2020. All patients presented symptoms before the age of 18 years. Each diagnosis was further confirmed by GAA enzyme activity and GAA variants. The carrier rate of GAA varients was calculated based on variants detected by whole exon sequencing among 2 395 healthy children in Guangzhou.Results:Among the 57 PD patients (including male 26, female 31),twenty-eight patients with infantile onset PD (IOPD) presented with progressive general muscle weakness and cardiomyopathy. The mean ages of symptom onset and diagnosis were (2.5±1.4) and (5.0±3.0) months, respectively. Twenty-six cases died in the first year after birth.Twenty-three patients with late onset PD (LOPD) presented with progressive muscle weakness. Seven of them had respiratory failure at diagnosis. The mean ages of symptom onset and diagnosis were (12.0±5.0) and (17.0±7.5) years, respectively. Six children with atypical IOPD showed motor delay, muscle weakness and cardiomyopathy. Their diagnosis was confirmed at 2.5-7.0 years of age. Among the 57 patients, 47 different variants were identified in the GAA gene. Three variants: c.797C>T, c.1109G>A and c.1757C>T were novel. c.1935C>A (25/114, 21.9%) and c.2238G>C (15/114, 13.2%) were the most common variants, detected in 57.1% of IOPD and 65.2% (15/23) of LOPD patients, respectively. Among the 28 IOPD patients, 26 cases (92.9%) carried at least one missense variant which indicated positive cross-reactive immunologic material (CRIM). The carrier rate of pathogenic variants in GAA gene among healthy children was 24/2 395. The estimated incidence of PD in this population is about 1/40 000. The frequencies of pseudodeficiency variants c.1726G>A and c.2065G>A homozygotes were 26.3% (15/57) and 35.1% (20/57) in PD patients, which were significantly higher than those (1.7% (40/2 395) and 3.9% (94/2 395)) in healthy children (χ2=151.2, 121.9; both P<0.01). Conclusions:PD presents as a spectrum, some as atypical IOPD. The c.1935C>A and c.2238G>C are common variants, correlated with IOPD and LOPD respectively. The c.796C>T and c.1082C>T are usually found in atypical IOPD. The majority of IOPD patients is predicted to be CRIM positive. The estimated incidence of PD is about 1/40 000.

Purpose: Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic autosomal recessive disease caused by mutations in ATP8B1, ABCB11 or ABCB4. Mutational analysis of these genes is a reliable approach to identify the disorder. Methods: We collected and analyzed relevant data related to clinical diagnosis, biological investigation, and molecular determination in nine children carrying these gene mutations, who were from unrelated families in South China. Results: Of the nine patients (five males, four females) with PFIC, one case of PFIC1, four cases of PFIC2, and four cases of PFIC3 were diagnosed. Except in patient no. 8, jaundice and severe pruritus were the major clinical signs in all forms. γ-glutamyl transpeptidase was low in patients with PFIC1/PFIC2, and remained mildly elevated in patients with PFIC3. We identified 15 different mutations, including nine novel mutations (p.R470HfsX8, p.Q794X and p.I1170T of ABCB11 gene mutations, p.G319R, p.A1047P, p.G1074R, p.T830NfsX11, p.A1047PfsX8 and p.N1048TfsX of ABCB4 gene mutations) and six known mutations (p.G446R and p.F529del of ATP8B1 gene mutations, p.A588V, p.G1004D and p.R1057X of ABCB11 gene mutations, p.P479L of ABCB4 gene mutations). The results showed that compared with other regions, these three types of PFIC genes had different mutational spectrum in China. Conclusion The study expands the genotypic spectrum of PFIC. We identified nine novel mutations of PFIC and our findings could help in the diagnosis and treatment of this disease.

Objective: To report clinical feature and results of genetic analysis of 3 patients from 2 families with Finnish variant late infantile neuronal ceroid lipofuscinosis. Methods: The clinical and ultrastructural features of 3 patients with progressive neurodegenerative diseases were retrospectively analyzed from October 2014 to December 2016 in Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center. The whole exon sequencing and Sanger sequencing were used to analyze the molecular genetics of the patients and their parents. Results: The probands were 11 years and 3 moths, 9 years and 1 month,10 years and 1 month old. All were normal at birth, and from 5-6 years old they began to develop "regression of cognition and motion, impaired vision". Physical examination at the first consultation: clear minded butignorant, unable to speak and understand instructions, unable to stand up and sit alone, unable to maintain postureupright. The brain magnetic resonance imaging(MRI) indicated diffuse cerebral and cerebellar atrophy, white matter damage. Blood biochemistry, lactic acid, acid-base balancewere normal. Electron microscopic examination of peripheral blood lymphocytes showed swelling of the nucleus, autophagy, intracellular massive deposits and abnormal vacuoles. Two compound heterozygous c.334C> T (p.Arg112Cys) and c.595C> T (p.Arg199Ter) mutations of CLN5 gene were identified in the two siblings, and the proband 3 was c.335G> A (p.Arg199His) homozyousmutation, which were inherited from their unaffected parents. Conclusions The 3 cases with Finnish variant late infantileneuronal ceroid lipofuscinosises were normal at birth, cognitive and motor function was regressed at preschool age.Brain MRI showed whole brain atrophy, white matter lesions, there were no bovious difference from other neurodegenerative diseases. Blood biochemistry and pathological examination of lymphocytes had no specific changes. The pathogenic genes were CLN5,most are inherited in autosomal recessive way.

Recurrent seizures lead to abnormal expression of synaptic proteins,reorganization of synapse and formation of abnormal neuron network.Recently,it is identified that the synaptic proteins are involved in epileptogenesis.The abnormal expression of several synaptic regulatory proteins and postsynaptic membrane receptor proteins may result in epilepsy.The ion channels usually are the action target of most antiepileptic drugs.However,carbamazepine and zonisamide may interact with syntaxin and/or soluble N-ethylmaleimide-sensitive factor attachment protein receptor complex to exert its function of anti-epilepsy.The synaptic vesicle protein 2A is the action target for new anti-epileptic drugs,including levetiracetam,brivaracetam and seletracetam.