Objective:To screen high risk children for lysosomal storage diseases (LSD) in southern China and analyze the spectrum characteristics of LSD in this region.Methods:A cross-sectional study was conducted. A total of 7 435 children at high risk of LSD were screened at Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from January 2009 to December 2024. The activities of 22 lysosomal enzymes from peripheral blood leukocytes or plasma were measured by fluorescence or colorimetric assays with synthetic substrates to screen for 24 LSD subtypes.Results:Among the 7 435 high risk children, 759 children were diagnosed with LSD (10.2%). The diagnosed cases included 506 males and 253 females, with an age at diagnosis of 3.0 (2.5, 5.5) years. The common disease types were mucopolysaccharidosis (MPS) (390 cases (51.4%)), sphingolipidoses (269 cases (35.4%)), glycogen storage disease (62 cases (8.2%)), and mucolipidosis types Ⅱ and Ⅲ (29 cases (3.8%)). Among the positive cases, 21 disease subtypes were identified. The 5 frequent subtypes, in descending order, were MPS type Ⅱ (197 cases (26.0%)), Gaucher disease (111 cases (14.6%)), MPS type ⅣA (87 cases (11.5%)), glycogen storage disease type Ⅱ (62 cases (8.2%)), and metachromatic leukodystrophy (MLD) (49 cases (6.5%)). The rarest subtypes were mannosidosis, multiple sulfatase deficiency and Wolman disease, each with 1 case (0.1%).Conclusions:Enzyme activity screening is essential for diagnosing high risk children with LSD. In Southern China, the most common LSD subtypes are MPS Ⅱ, Gaucher disease, MPS ⅣA, glycogen storage disease type Ⅱ, and MLD, while mannosidosis, multiple sulfatase deficiency and Wolman disease are the rarest.

Objective:To screen high risk children for lysosomal storage diseases (LSD) in southern China and analyze the spectrum characteristics of LSD in this region.Methods:A cross-sectional study was conducted. A total of 7 435 children at high risk of LSD were screened at Guangzhou Women and Children′s Medical Center, Guangzhou Medical University from January 2009 to December 2024. The activities of 22 lysosomal enzymes from peripheral blood leukocytes or plasma were measured by fluorescence or colorimetric assays with synthetic substrates to screen for 24 LSD subtypes.Results:Among the 7 435 high risk children, 759 children were diagnosed with LSD (10.2%). The diagnosed cases included 506 males and 253 females, with an age at diagnosis of 3.0 (2.5, 5.5) years. The common disease types were mucopolysaccharidosis (MPS) (390 cases (51.4%)), sphingolipidoses (269 cases (35.4%)), glycogen storage disease (62 cases (8.2%)), and mucolipidosis types Ⅱ and Ⅲ (29 cases (3.8%)). Among the positive cases, 21 disease subtypes were identified. The 5 frequent subtypes, in descending order, were MPS type Ⅱ (197 cases (26.0%)), Gaucher disease (111 cases (14.6%)), MPS type ⅣA (87 cases (11.5%)), glycogen storage disease type Ⅱ (62 cases (8.2%)), and metachromatic leukodystrophy (MLD) (49 cases (6.5%)). The rarest subtypes were mannosidosis, multiple sulfatase deficiency and Wolman disease, each with 1 case (0.1%).Conclusions:Enzyme activity screening is essential for diagnosing high risk children with LSD. In Southern China, the most common LSD subtypes are MPS Ⅱ, Gaucher disease, MPS ⅣA, glycogen storage disease type Ⅱ, and MLD, while mannosidosis, multiple sulfatase deficiency and Wolman disease are the rarest.

Objective:To construct a standardized training program for full-time nursing postgraduate students, and to provide a basis for the training the high-quality nursing talents in hospitals.Methods:Through literature review and demi structured interview, preliminarily develop the training program was established from January to March 2021. Through two rounds of expert consultations of 16 experts, the standardized training program for nursing postgraduates was formulated.Results:The recovery rate of the two rounds were both 16/16. The expert authority coefficients of the two rounds of consultation were 0.819, respectively. The Kendall′s coordination coefficients of the two rounds of consultation were 0.329 and 0.334, respectively, and the difference was statistically significant ( P< 0.01). Finally, a standardized training program for entry-level nursing postgraduates was formed, which included five parts: training objects and quality requirements, training methods, training objectives, training contents and evaluation, with a total of 225 items. Conclusions:The standardized training program for nursing postgraduates formed is reliable, scientific and practical, which provides guidance and reference for the training and use of highly educated clinical nursing talents in hospitals.

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.

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 explore the differences in the infertility stress, subjective well-being and fertility quality of life among infertile couples and mediating role of psychological resilience.Methods:A cross-sectional study and convenient sampling method were used to recruit the new diagnosed as infertility couples from April 2017 to April 2018 in the Reproductive Center of the First Affiliated Hospital of Zhengzhou University. The Resilience Scale (CD-RISC), the Fertility Problem Inventory (FPI), the Subjective Well-being Scale (SWBS) and the Fertility Quality of Life Questionnaire (FertiQoL) were used to investigate the 230 infertile couples.Results:Infertility couples had statistical differences in psychological resilience ( P=0.034), infertility stress ( P<0.001), and fertility quality of life ( P=0.005), and there was no statistically significant difference in subjective well-being. The fitting degree of structural equation model of infertility stress and subjective well-being and fertility quality of life among infertility women was relatively ideal [χ 2/ df=1.437, goodness of fit index (GIF)=0.936, adjusted goodness of fit index (AGFI)=0.909, root mean square error of approximation (RMSEA)=0.043], and the mediating effects of psychological resilience on subjective well-being and fertility quality of life was significant. The fitting degree of structural equation model of infertility stress and subjective well-being and fertility quality of life among infertility men was relatively ideal [χ 2/ df=2.011, GFI=0.93, incremental fit index (IFI)=0.918, comparative fit index (CFI)=0.917, RMSEA=0.067], and psychological resilience had a mediating effect on fertility quality of life, but had no mediating effect on subjective well-being. Conclusion:There are differences in infertility stress and fertility quality of life among infertile couples. psychological resilience has a mediating effect on the infertility stress and fertility quality of life among infertile couples.

Objective:To explore the relationship between salivary alpha-amylase (SAA) and infertility stress in infertile women.Methods:A convenient sampling method was used to investigate the infertile women in the Reproductive Medicine Center of the First Affiliated Hospital of Zhengzhou University from April 2017 to December 2017. A total of 458 infertile women were examined using the SAA and the Fertility Problem Inventory (FPI). SAA level was measured using an enzyme-linked immunosorbent assay (ELISA) kit.Results:The total infertility stress score was 155.86±24.54. The family monthly income, the cause of infertility and the type of infertility were statistically different between different groups ( t=4.123, P=0.041; F=4.079, P<0.001; t=4.491, P=0.035). Pearson correlation analysis showed that SAA and social concern, relationship concern, need for parenthood, rejection of child-free life, sexual concern and total infertility stress were significantly correlated ( r=0.360, r=0.348, r=0.222, r=0.166, r=0.203, r=0.426, all P<0.001). Multiple linear regression results showed that infertility stress, infertility causes and types of infertility were factors influencing SAA. Conclusion:SAA was associated with infertility stress. Combined with SAA and FPI may assess the psychological stress more objectively for infertile women.

Objective:To explore the differences in the infertility stress, subjective well-being and fertility quality of life among infertile couples and mediating role of psychological resilience.Methods:A cross-sectional study and convenient sampling method were used to recruit the new diagnosed as infertility couples from April 2017 to April 2018 in the Reproductive Center of the First Affiliated Hospital of Zhengzhou University. The Resilience Scale (CD-RISC), the Fertility Problem Inventory (FPI), the Subjective Well-being Scale (SWBS) and the Fertility Quality of Life Questionnaire (FertiQoL) were used to investigate the 230 infertile couples.Results:Infertility couples had statistical differences in psychological resilience ( P=0.034), infertility stress ( P<0.001), and fertility quality of life ( P=0.005), and there was no statistically significant difference in subjective well-being. The fitting degree of structural equation model of infertility stress and subjective well-being and fertility quality of life among infertility women was relatively ideal [χ 2/ df=1.437, goodness of fit index (GIF)=0.936, adjusted goodness of fit index (AGFI)=0.909, root mean square error of approximation (RMSEA)=0.043], and the mediating effects of psychological resilience on subjective well-being and fertility quality of life was significant. The fitting degree of structural equation model of infertility stress and subjective well-being and fertility quality of life among infertility men was relatively ideal [χ 2/ df=2.011, GFI=0.93, incremental fit index (IFI)=0.918, comparative fit index (CFI)=0.917, RMSEA=0.067], and psychological resilience had a mediating effect on fertility quality of life, but had no mediating effect on subjective well-being. Conclusion:There are differences in infertility stress and fertility quality of life among infertile couples. psychological resilience has a mediating effect on the infertility stress and fertility quality of life among infertile couples.

Objective:To explore the relationship between salivary alpha-amylase (SAA) and infertility stress in infertile women.Methods:A convenient sampling method was used to investigate the infertile women in the Reproductive Medicine Center of the First Affiliated Hospital of Zhengzhou University from April 2017 to December 2017. A total of 458 infertile women were examined using the SAA and the Fertility Problem Inventory (FPI). SAA level was measured using an enzyme-linked immunosorbent assay (ELISA) kit.Results:The total infertility stress score was 155.86±24.54. The family monthly income, the cause of infertility and the type of infertility were statistically different between different groups ( t=4.123, P=0.041; F=4.079, P<0.001; t=4.491, P=0.035). Pearson correlation analysis showed that SAA and social concern, relationship concern, need for parenthood, rejection of child-free life, sexual concern and total infertility stress were significantly correlated ( r=0.360, r=0.348, r=0.222, r=0.166, r=0.203, r=0.426, all P<0.001). Multiple linear regression results showed that infertility stress, infertility causes and types of infertility were factors influencing SAA. Conclusion:SAA was associated with infertility stress. Combined with SAA and FPI may assess the psychological stress more objectively for infertile women.