Objective:To explore the association of human betaine-homocysteine methyltransferase ( BHMT) and BHMT2 gene polymorphisms with non-syndromic congenital heart disease (CHD). Methods:A hospital-based case-control study was conducted, in which children with CHD who attended Hunan Children′s Hospital from January 2018 to May 2019 were enrolled as the case group, and children without any congenital deformity who attended the hospital during the same period were enrolled as the control group on a 1∶1 basis. A self-administered questionnaire survey was performed to collect information about the study subjects and their mothers, and then venous blood samples were collected from the subjects to detect BHMT and BHMT2 gene polymorphisms. Logistic regression analyses were used to evaluate the association of BHMT and BHMT2 gene polymorphisms and their haplotypes with CHD. Crossover analyses and logistic regression were used to explore the gene-gene and gene-environment interactions. Results:The case and control group both enrolled 620 children. The multivariate logistic regression showed that BHMT gene polymorphisms at rs3733890 (AA vs. GG: OR=3.476, Q FDR<0.001; GA vs. GG: OR=1.525, Q FDR=0.036), at rs1915706 (CC vs. TT: OR=3.464, Q FDR<0.001) and at rs1316753 (GG vs. CC: OR=1.875, Q FDR=0.020) increased the risk of CHD. Children with haplotype of A-G-A had an increased risk of CHD ( OR=1.468, 95% CI: 1.222-1.762). Interaction analysis showed that a statistically significant positive interaction between rs3733890 and rs1915706 on both additive ( RERI=0.628, 95% CI: 0.298-0.958) and multiplicative ( OR=3.754, 95% CI: 1.875-7.519) scales. Gene-environment interactions were found between the BHMT gene with secondhand smoke exposure before pregnancy and in early pregnancy, tea consumption before pregnancy and in early pregnancy, alcohol consumption before pregnancy, and folic acid supplementation before or during pregnancy. Conclusion:BHMT gene rs3733890, rs1915706 and rs1316753 polymorphisms may be associated with the risk of CHD. In addition, there is an association of cooperative interaction between rs3733890 and rs1915706 on both additive and multiplicative scales with the risk of CHD, and the BHMT gene interacts with multiple environmental factors.

Objective:To explore the association of human betaine-homocysteine methyltransferase ( BHMT) and BHMT2 gene polymorphisms with non-syndromic congenital heart disease (CHD). Methods:A hospital-based case-control study was conducted, in which children with CHD who attended Hunan Children′s Hospital from January 2018 to May 2019 were enrolled as the case group, and children without any congenital deformity who attended the hospital during the same period were enrolled as the control group on a 1∶1 basis. A self-administered questionnaire survey was performed to collect information about the study subjects and their mothers, and then venous blood samples were collected from the subjects to detect BHMT and BHMT2 gene polymorphisms. Logistic regression analyses were used to evaluate the association of BHMT and BHMT2 gene polymorphisms and their haplotypes with CHD. Crossover analyses and logistic regression were used to explore the gene-gene and gene-environment interactions. Results:The case and control group both enrolled 620 children. The multivariate logistic regression showed that BHMT gene polymorphisms at rs3733890 (AA vs. GG: OR=3.476, Q FDR<0.001; GA vs. GG: OR=1.525, Q FDR=0.036), at rs1915706 (CC vs. TT: OR=3.464, Q FDR<0.001) and at rs1316753 (GG vs. CC: OR=1.875, Q FDR=0.020) increased the risk of CHD. Children with haplotype of A-G-A had an increased risk of CHD ( OR=1.468, 95% CI: 1.222-1.762). Interaction analysis showed that a statistically significant positive interaction between rs3733890 and rs1915706 on both additive ( RERI=0.628, 95% CI: 0.298-0.958) and multiplicative ( OR=3.754, 95% CI: 1.875-7.519) scales. Gene-environment interactions were found between the BHMT gene with secondhand smoke exposure before pregnancy and in early pregnancy, tea consumption before pregnancy and in early pregnancy, alcohol consumption before pregnancy, and folic acid supplementation before or during pregnancy. Conclusion:BHMT gene rs3733890, rs1915706 and rs1316753 polymorphisms may be associated with the risk of CHD. In addition, there is an association of cooperative interaction between rs3733890 and rs1915706 on both additive and multiplicative scales with the risk of CHD, and the BHMT gene interacts with multiple environmental factors.

Objective To observe the value of dual-source CT(DECT)virtual monoenergetic imaging(VMI)for differentiating prostate cancer(PC)and benign prostatic hyperplasia(BPH).Methods Thirty-three patients with PC(PC group)and 44 patients with BPH(BPH group)were retrospectively enrolled,and 40-100 keV(with 10 keV interval)VMI were reconstructed based on arterial phase DECT images,respectively.Clinical data,focal CT value and contrast-to-noise ratio(CNR)of VMI with different energy levels and conventional linear fusion images of arterial phase were compared between groups.Binary logistic regression models were constructed based on clinical data being significantly different between groups,focal CT value of VMI with energy level with the highest CNR,also focal CT value of conventional linear fusion images of arterial phase,respectively.The area under the receiver operating characteristic curve(AUC)was calculated to evaluate the efficacy of each model for differentiating PC and BPH.Results Free prostate-specific antigen(f-PSA),total prostate-specific antigen(t-PSA),focal CT value of 40-100 keV VMI and conventional linear fusion images of arterial phase in PC group were all higher,while short diameter in PC group was smaller than those in BPH group(all P＜0.05).Logistic regression models were constructed based on f-PSA,t-PSA,short diameter,CT value at 40 keV VMI and CT value at conventional linear fusion images of arterial phase,respectively,with AUC for differentiating PC and BPH of 0.879,0.902,0.701,0.911 and 0.857,respectively.Conclusion DECT VMI could be used as a supplementary examination for prostate diseases,and 40 keV VMI had the best efficacy for differentiating PC and BPH.

Objective:To explore application effect of early respiratory training schemes based on 4E mode (Engage, Educate, Execute, Evaluate) in children with bronchiolitis obliterans (BO) and provide evidence for the clinical implementation of early respiratory rehabilitation in children with BO.Methods:This was a quasi-experimental study. The children with BO who were admitted to 2 wards of the Department of Respiratory Medicine of Hunan Children's Hospital from January 1 to December 31, 2021 were selected as the research objects. They were randomly divided into the control group and the experimental group, with 23 cases in each group. The control group received routine treatment, nursing and rehabilitation guidance. The experimental group established a multidisciplinary team based on the control group, and used the early respiratory training program based on the 4E model to implement intervention. The clinical symptom severity scale was used to evaluate the improvement of the clinical symptoms of the children within 24 hours of being diagnosed as BO, the day of discharge, and 1 and 3 months after discharge for re-examination, and the hospitalization time of the children and the incidence of adverse events related to respiratory training were counted by using medical records and questionnaires.Results:The clinical symptom severity scores of the experimental group within 24 hours of admission diagnosis and the day of discharge were (20.00 ± 2.51) and (11.30 ± 2.46)points respectively, while those of the control group were (20.57 ± 2.21) and (11.70 ± 2.42) points respectively, with no statistically significant difference ( t=0.81, 0.54, both P>0.05). The clinical symptom severity scores of the experimental group were(10.52 ± 2.31) and (8.55 ± 1.06) points, lower than (12.32 ± 1.39) and (12.45 ± 2.19) points of the control group when they returned to the hospital for re-examination 1 and 3 months after discharge, with a statistically significant difference ( t=3.14, 7.25, both P<0.05). The experimental group was hospitalized for (11.78 ± 1.17) days, which was showter than (13.74 ± 1.63) days in the control group, with a statistically significant difference ( t=4.68, P<0.05). No respiratory training-related adverse events occurred in both groups of children during hospitalization. During home respiratory training after discharge, 1 and 2 respiratory training-related adverse events occurred in the experimental group 1 and 3 months after discharge, respectively, compared with 6 and 9 in the control group. The difference was statistically significant ( χ2=4.64, 5.94, both P<0.05). Conclusions:Early respiratory training solutions based on the 4E mode can improve the clinical symptoms of BO children, shorten the hospitalization time, reduce the number of adverse events related to respiratory training, and promote the recovery of children.

Cross-Sectional Studies ; Urodynamics ; China

Diffusion MRI (dMRI) is an important imaging modality that is used extensively to diagnose and monitor diseases. dMRI measures random motion of water molecules and helps elucidate microstructural properties of tissues. Optimal diffusion encoding paradigms have been developed to reduce acquisition time, minimize artifacts, and acquire high fidelity data needed for advanced modeling of tissue properties. To further probe microstructural properties, joint diffusion-relaxometry and diffusion weighted MR fingerprinting have garnered interest. A thorough knowledge of different diffusion encoding methods is essential to accurately encode diffusion in MR experiments. Here, we review fundamental physics of diffusion encoding methods, their associated challenges, and how to address them. Advanced diffusion acquisition methods are also discussed.

Diffusion MRI (dMRI) has been widely utilized to probe the random motion of water molecules in tissues. In a dMRI acquisition protocol, diffusion weighting or b-value is one of the most important parameters to consider. In recent years, high and ultrahigh b-values have become popular partly due to advances in hardware. In this mini-review, we will discuss impacts of high/ultrahigh b-values in three different areas: brain microstructure, tractography, and clinical applications. We will emphasize advantages of high b-value in probing diffusion within highly restricted regions or fine structures with enhanced diffusion contrast. A short summary is included at the end of each section to illustrate both advantages and disadvantages of using a high/ultrahigh b-value for each purpose.

Objective:To study the correlation between non-contact anterior cruciate ligament (ACL) injury and functional ankle instability (FAI) in young patients.Methods:A retrospective analysis was conducted of the 102 patients with non-contact ACL injury[61 males and 41 females, with an age of (31.9±6.1) years and a Tegner activity score of (6.1±1.9) points] who had been treated at Department of Orthopedics, Sun Yat-sen Memorial Hospital from January 2017 to March 2020 (injury group). Another 102 citizens without ACL injury from Guangzhou [56 males and 46 females, with an age of (30.3±7.2) years and a Tegner activity score of (6.0±2.1) points] were recruited as a control group. The Cumberland ankle instability tool (CAIT) and the Ankle Joint Functional Assessment Tool (AJFAT) were used to assess whether the subjects had self-conscious FAI or not. A correlation analysis was conducted using the data collected.Results:The 2 groups were comparable because there were no significant differences between them in general data ( P>0.05). By the CAIT score, the incidence of FAI in the injury group [52.9% (54/102)] was significantly higher than that in the control group [32.4% (33/102)] ( P<0.05); by the AJFAT score, the incidence of FAI in the injury group [59.8% (61/102) ] was significantly higher than that in the control group [39.2% (40/102)] ( P<0.05). Pearson correlation analysis showed that diagnoses of FAI by CAIT and by AJFAT were respectively correlated with ACL injury ( r=-0.159, P=0.023; r=-0.215, P=0.002). Conclusions:The incidence of FAI may be high in patients with ACL injury and there is a correlation between FAI and ACL injury.

Objective: To investigate the prognostic effect of neonatal morbidities on poor outcomes at 12 months corrected age in very low birth weight (VLBW) premature infants . Method: From November 2013 to October 2014, a multi-center retrospective study was conducted in 8 tertiary Maternal and Children′s hospitals in Guangdong, Hunan and Fujian. The premature infants survived to a postmenstrual age (PMA) of 36 weeks with birth weight less than 1 500 g and without congenital diseases were included, and divided into two groups according to poor outcomes. The birth weight, gestational age, morbidities and poor outcomes (death, cerebral palsy, cognitive delay, et al) were recorded. Data were analyzed with Chi-square test to investigate the relationship between morbidities and poor outcomes. And the predictive effect of the top three morbidities were analyzed by Logistic regression analysis. Result: Total of 834 VLBW premature infants (473 boys and 361 girls) finished the follow-up, whose average gestational age and birth weight were (30.6±1.8) weeks and (1 189±159)g. The incidences of BPD, severe ROP, NEC, brain injury and sepsis were 207 (24.8%), 119 (14.3%), 58 (7.0%), 281 (33.7%) and 124 (14.9%), respectively. There were significant differences between the two groups in the incidences of BPD, severe ROP, NEC, brain injury and sepsis(χ²=42.10, 47.20, 4.81, 44.28, 18.63, all P<0.01), which had significant correlation with poor outcomes at 12 months corrected age. The three top morbidities were severe ROP, BPD and brain injury(OR=3.82, 2.90, 2.80). Combined morbidities with BPD, severe ROP and brain injury correlated with higher risk of poor outcomes (one morbidity, OR=3.14, β=1.15; two morbidities, OR=7.31, β=1.99; three morbidities, OR=22.41, β=3.11; all P<0.01). Conclusion BPD, severe ROP, NEC, brain injury and sepsis were the risk factors of poor outcomes at 12 months corrected age in VLBW infants. And the more combined morbidities with severe ROP, BPD and brain injury, the higher risk of poor outcomes in this population. Trial registration Clinical Trails, NCT03104946.

Objective To investigate the morbidity, diagnostic profile and perinatal outcome of pregestational diabetes mellitus (PGDM) in 15 hospitals in Guangdong province. Methods A total of 41338 women delivered in the 15 hospitals during the 6 months,195 women with PGDM(PGDM group) and 195 women with normal glucose test result(control group)were recruited from these tertiary hospitals in Guangdong province from January 2016 to June 2016. The morbidity and diagnostic profile of PGDM were analyzed. The complications during pregnancy and perinatal outcomes were compared between the two groups. In the PGDM group, pregnancy outcomes were analyzed in women who used insulin treatment (n=91) and women who did not (n=104). Results (1)The incidence of PGDM was 0.472%(195/41338). Diabetes mellitus were diagnosed in 59 women (30.3%, 59/195) before pregnancy, and 136 women (69.7%,136/195) were diagnosed as PGDM after conceptions. Forty-six women (33.8%) were diagnosed by fasting glucose and glycohemoglobin (HbA1c) screening. (2) The maternal age, pre-pregnancy body mass index (BMI), prenatal BMI, percentage of family history of diabetes, incidence of macrosomia, concentration of low density lipoprotein were significantly higher in PGDM group than those in control group (all P<0.05). Women in PGDM group had significantly higher HbA1c concentration((6.3±1.3)% vs (5.2±0.4)%), fasting glucose [(6.3±2.3) vs (4.8±1.1) mmol/L], oral glucose tolerance test(OGTT)-1 h glucose((12.6±2.9) vs (7.1± 1.3) mmol/L)and OGTT-2 h glucose [(12.0±3.0) vs (6.4±1.0) mmol/L] than those in control group (P<0.01). (3)The morbidity of preterm births was significantly higher (11.3% vs 1.0%, P<0.01), and the gestational age at delivery in PGDM group was significantly smaller [(37.6±2.3) vs (39.2±1.2) weeks, P<0.01]. Cesarean delivery rate in the PGDM group (70.8% vs 29.7%) was significantly higher than the control group (P<0.01). There was significantly difference between PGDM group and control in the neonatal male/female ratio (98/97 vs 111/84, P=0.033). The neonatal birth weight in PGDM group was significantly higher((3159±700) vs (3451±423) g, P<0.01). And the incidence of neonatal hypoglycemia in the PGDM group was higher than the control group (7.7% vs 2.6%, P=0.036).(4)In the PGDM group, women who were treated with insulin had a smaller gestational age at delivery [(36.9±2.9) vs (37.9±2.5) weeks, P<0.01], and the neonates had a higher neonatal ICU(NICU)admission rate (24.2% vs 9.6% , P<0.01). Conclusions The morbidity of PGDM in the 15 hospitals in Guangdong province is 0.472%. The majority of PGDM was diagnosed during pregnancy; HbA1c and fasting glucose are reliable parameters for PGDM screening. Women with PGDM have obvious family history of diabetes and repeated pregnancy may accelerate the process of diabetes mellitus. Women with PGDM have higher risk for preterm delivery and neonatal hypoglycemia. Unsatisfied glucose control followed by insulin treatment may increase the need for NICU admission.