Objective To explore the relationships between different marital satisfaction of women with childbearing age and sexual life satisfaction, personality characteristics, coping style and social support. Method-s Three hundred and fifty-one complete cases were randomly obtained by means of ENRICH's marital satisfaction and sexual life satisfaction,EPQ,and etc,and further divided into high marital satisfaction(group A, n=170) and low marital satisfaction(group B, n=181) according to the mean score of the whole sample's macital satisfaction.Then comparisons were carried out between the two groups. Results (1)The means of sexual life satisfaction,Lacores and four indexes of social support in group A were significantly higher than those in group B(P<0.05),but P's and N's scores in group A lower than those in group B (P<0.05). (2) Stepwise multiple regression ana-lyses showed that only sexual life satisfaction (sβ=0.487) and objective social support (sβ=0. 158) entered the equation in whole sample (r=0.290). Conclusion (1) There axe significant differences of sexual life satisfac-tion, personality characteristics and social support among the women with different marital satisfactions. (2)Sexual life satisfaction, personality characteristics and social support are important influencing factors to marital satisfaction among the women.

OBJECTIVE:To probe into the status quo,characteristics and influencing factors of ADR cases in our city. METHODS:In the retrospective statistical analysis study,a total of 752 ADR cases reported in Panzhihua Municipal ADR Monitoring Center in 2008 were analyzed and evaluated in respect of patients' age and sex,route of administration,drug varieties,organs and system involved and common countermeasures for ADR,etc. RESULTS:Of the total 752 ADR cases,323 cases of patients aged more than 60 showed the highest proportion(42.95%); 401 cases(53.32%) were caused by intravenous route; 810 kinds of drugs were used,of which antibiotics caused ADR in 317 cases (39.14%); lesions of skin and its appendants were the most common presentations of the ADR,which appeared in 314 cases(36.38%). CONCLUSION:The incidence of ADR relates to the patients' age,routed of administration and frequency of clinical drug use,which should be emphasized in the clinic.

Objective To study the effects of wet paking the ligustrazine phosphate to cure the effusion when using chemotherapy medicine. Methods Divided 120 patients into 2 groups randomly. In the experimental group, ligustrazine phosphate was used to cure the effusion, while in the control group, the traditional method was used. Compared the effects of differences between the two groups. Results The effects about curing the effusion in the experimental group was significant better than those of in the control group. Conclusion It is an effective method about wet packing the ligustrazine phosphate to cure the effusion when using chemotherapy medicine.

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.

Objective:To explore the status of HBV infection, immune response to hepatitis B vaccine and its influencing factors of one-year old children born to HBV infected mothers in real world.Methods:In this cross-sectional study, eligible mothers infected with chronic HBV and children who completed standard vaccination against hepatitis B vaccine and hepatitis B immunoglobulin injection were selected. Clinical biochemical, virological measurements, data of antiviral therapy and complications during pregnancy and childbirth were collected by HIS(Hospital Information System)system and LIS (Laboratoty Information Management System) system. At one year of age, the children were tested for HBsAg, HBsAb and HBV DNA in venous blood specimens.Results:A total of 1 302 eligible mothers and children were collected, including 600 in high viral load group (mothers’ HBV DNA≥2×10 5 IU/ml) and 702 in low viral load group (mothers’ HBV DNA<2×10 5 IU/ml). In high viral load group, 587 patients received antiviral drugs in the middle or late trimester (Treated group) and 13 patients did not receive antiviral drugs (Untreated group). No chronic HBV infection occurred in children of low viral load group, and in 5 cases (0.83%) the infection occurred in high viral load group. In the five HBV infected children, 3 cases (0.51%) were in the treated group, and 2 cases (15.38%) in untreated group. The failure rate of mother-to-child blocking in low viral load group was significantly lower than that in high viral load group ( χ2=5.87, P=0.015), and it was significantly lower in treated group than that in untreated group ( χ2=29.195, P=0.001). The percentages of HBsAb level <10 mIU/ml, 10- <100 mIU/ml and ≥100 mIU/ml in 1 297 children without HBV infection were 1.15%, 15.65% and 83.19%, respectively. Univariate and multivariate logistic regression analysis showed that maternal total bilirubin level and hypothyroidism during pregnancy were correlated with HBsAb level at 1 year of age ( χ2=29.003, P <0.05). Conclusions:Antiviral drugs taken during pregnancy by pregnant women with high HBV viral load can significantly reduce mother-to-child transmission of HBV. Follow-up on the response of children born to HBV-infected mothers to hepatitis B vaccine should be enhanced after birth.

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.

Growth hormone deficiency (GHD) has become a serious healthcare burden, and presents a huge impact on the physical and mental health of patients. Here, we developed an actively separated microneedle patch (PAA/NaHCO₃-Silk MN) based on silk protein for sustained release of recombinant human growth hormone (rhGH). Silk protein, as a friendly carrier material for proteins, could be constructed in mild full-water conditions and ensure the activity of rhGH. After manually pressing PAA/NaHCO₃-Silk MN patch to skin for 1 min, active separation is achieved by absorbing the interstitial fluid (ISF) to trigger HCO₃ ^‒ in the active backing layer to produce carbon dioxide gas (CO₂). In rats, the MN patch could maintain the sustained release of rhGH for more than 7 days, and produce similar effects as daily subcutaneous (S.C.) injections of rhGH in promoting height and weight with well tolerated. Moreover, the PAA/NaHCO₃-Silk MN patch with the potential of painless self-administration, does not require cold chain transportation and storage possess great economic benefits. Overall, the PAA/NaHCO₃-Silk MN patch can significantly improve patient compliance and increase the availability of drugs, meet current unmet clinical needs, improve clinical treatment effects of GHD patients.