[Expression of DARS2 in colorectal cancer and its clinical significance].

Objective: To investigate the expression of DARS2 and its clinical significance in colorectal cancer. Methods: In this study, bioinformatics tools, especially gene expression profile interactive analysis 2 (GEPIA2), were used to conduct an in-depth analysis of DARS2 expression in colorectal cancer tissues. Immunohistochemical staining was carried out in 108 colorectal cancer specimens and 30 normal colorectal tissues obtained from the First Affiliated Hospital of Nanchang University, Nanchang, China. Colorectal cancer cell lines (HCT116 and SW480) were transfected with small interfering RNA (siRNA) and DARS2 overexpression plasmid to examine the effects of DARS2 knockdown and overexpression on cell function. To assess the effects on cell function, CCK8 and transwell migration assays were used to assess proliferation and cell motility, respectively. Additionally, protein immunoblotting was employed to scrutinize the expression of proteins associated with the epithelial-mesenchymal transition of colorectal cancer cells. Results: DARS2 exhibited a pronounced upregulation in expression within colorectal cancer tissues compared to their normal epithelial counterparts. Furthermore, DARS2 expression was higher in colorectal cancer of stage Ⅲ-Ⅳ than those of stage Ⅰ-Ⅱ, exhibiting a significant correlation with N staging, M staging, and pathological staging (P<0.05). Kaplan-Meier analyses showed a decreased overall survival rate in colorectal cancer with DARS2 expression compared to those without DARS2 expression (P<0.05). In the siRNA transfection group, there was a significant reduction in cell proliferation and migration (P<0.01 and P<0.05, respectively). Conversely, the transfection of DARS2 overexpression plasmids substantially increased both cell proliferation and migration (P<0.05). Additionally, immunoblotting revealed that DARS2 knockdown led to an upregulation of E-cadherin expression and a downregulation of N-cadherin and vimentin expression. In contrast, DARS2 overexpression resulted in increased N-cadherin and vimentin expression, coupled with reduction in E-cadherin expression. Conclusions: There is a strong association between DARS2 expression and colorectal cancer progression. Silencing DARS2 inhibits cell proliferation and migration, exerting a discernible influence on the epithelial-mesenchymal transition process.

[The emulation of clinical trials with real-world data: development and application of target trial].

Clinical trial is the gold standard for evaluating the efficacy and safety of interventions; however, it is limited by high costs and long time. Real-world data (RWD) can provide a robust data basis for comparative research, but the quality is uneven. This review introduces the target trial emulation, in which researchers, using RWD and following the design of clinical trials, define exposure and outcome in advance, set eligibility criteria, determine the time zero, estimate sample size, and plan statistical analysis, to enhance the quality of evidence for observational studies. This review preliminarily discusses the standard of evidence quality evaluation in target trial emulation. Then, the target trial emulation is shown through case interpretation.

Differential diagnostic value of 3.0T MR 3D-ASL technique for recurrence and pseudo-progression of high-grade glioma.

OBJECTIVE: This study aimed to explore the value of 3.0T magnetic resonance three-dimensional arterial spin labeling imaging (3D-ASL) technology in the differential diagnosis of recurrence and pseudo-progression of high-grade gliomas. PATIENTS AND METHODS: Fifty patients with high-grade glioma were selected as research objects. All 50 patients were examined by magnetic resonance imaging (MRI), and the lesions were found to be enlarged or abnormally enhanced. All the patients were examined using the 3.0T MR 3D-ASL technique. With targeted biopsy pathology as the gold standard, the diagnostic results of the 3.0T MR 3D-ASL technique were analyzed, and the cerebral blood flow (rCBFmax) ratio was compared between patients with recurrent glioma and patients with pseudo-progression [maximum blood flow value/contralateral mirror area (CBFmax/contralateral mirror area), CBFmax/contralateral white matter, CBFmax/contralateral gray matter]. RESULTS: Among 50 glioma patients, 31 (62.00%) were diagnosed with recurrence through pathological examination, and 19 (38.00%) were diagnosed with pseudo-progression. 30 patients with recurrence (60.00%) and 20 patients with pseudo-progression (40.00%) were diagnosed using 3.0T magnetic resonance 3D-ASL technology. The diagnostic accuracy of 3.0T magnetic resonance 3D-ASL technology was 96.77% (30/31) (p > 0.05). Using pathological results as the "gold standard", the relevant parameters of 3.0T magnetic resonance 3D-ASL technology under different pathological results were analyzed. The results showed that the CBFmax/contralateral mirror area, CBFmax/contralateral white matter, and CBFmax/contralateral gray matter ratios of advanced glioma recurrence patients were significantly higher than those of pseudo-progression (p < 0.05). CONCLUSIONS: The application of 3.0T MR 3D-ASL in high-grade glioma can effectively distinguish recurrence and pseudo-progression, with significant diagnostic value.

[Medium-term efficacy and safety analysis of Ex-PRESS shunt implantation for the treatment of secondary glaucoma in Sturge-Weber syndrome].

Objective: To evaluate the medium-term efficacy and safety of Ex-PRESS shunt implantation in the treatment of secondary glaucoma associated with Sturge-Weber Syndrome (SWS). Methods: This was a retrospective case series study. Medical records of patients diagnosed with secondary glaucoma due to SWS who underwent Ex-PRESS shunt implantation at Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, between January 2013 and February 2020 were collected. Only the right eye were included in the analysis when both eyes were affected. Follow-up visits were scheduled at postoperative week 1, 3 months, 6 months, 1 year, 2 years, and 3 years. Clinical data including intraocular pressure (IOP), vertical cup-to-disc (C/D) ratio, corneal horizontal diameter, visual field, anterior chamber condition, anti-glaucoma medication usage, and additional surgeries were evaluated and analyzed before and after the procedure. Surgical success rates and procedure-related complications at each follow-up time point were assessed. Statistical analyses were performed using t-test, Mann-Whitney U test, and χ2 test. Results: A total of 21 patients (21 eyes) were included in the study, comprising 10 females and 11 males. Among them, 15 eyes were on the right side, and 6 eyes were on the left side. The patients' ages ranged from 3 to 51 years, with a median age of 8.1 (6.3, 11.9) years. The follow-up period ranged from 3 to 53 months, with a median of 11 (6, 24) months. Preoperatively, the IOP in the 21 operated eyes was (32.9±9.1) mmHg (1 mmHg=0.133 kPa), significantly higher than the IOP in the 19 healthy eyes, which was (17.1±4.3) mmHg (t=5.80, P<0.001). The C/D ratio in the operated eyes was (0.75±0.13), also significantly higher than that in the healthy eyes, which was (0.32±0.10) (t=11.22, P<0.001). At the 1-year, 2-year, and 3-year follow-up, 8 eyes out of 16 operated eyes, 6 eyes out of 9 operated eyes, and 7 eyes out of 10 operated eyes achieved overall surgical success (complete success+conditional success), respectively. The number of eyes with complete success at the three follow-up time points was 3, 2, and 4, respectively. The IOP in the operated eyes was significantly reduced at all follow-up time points compared to preoperative values (all P<0.05), while there was no statistically significant difference in C/D ratio before and after surgery (all P>0.05). Two operated eyes experienced retinal detachment or choroidal leakage postoperatively, both of which recovered after conservative treatment. One eye developed postoperative degree Ⅰ shallow anterior chamber, and it resolved spontaneously on the third day after surgery. No serious surgical complications, such as bleb-related complications, malignant glaucoma, expulsive choroidal hemorrhage, or endophthalmitis, were observed postoperatively. Conclusions: Ex-PRESS shunt implantation for the treatment of secondary glaucoma in SWS demonstrated a relatively high level of safety. The medium-term IOP in the operated eyes significantly decreased compared to preoperative values. However, the majority of operated eyes did not achieve complete surgical success.

Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.

OBJECTIVE: This research aimed to explore the value of non-invasive prenatal testing (NIPT) as a prenatal screening method for common aneuploidy in pregnant women in advanced maternal age. PATIENTS AND METHODS: A retrospective analysis was conducted on a cohort of 545 mothers with singleton pregnancy who were of advanced age and underwent NIPT testing voluntarily at the Second Affiliated Hospital of Guangxi Medical University between November 2020 and February 2023. In cases where NIPT testing suggested chromosomal abnormalities, amniocentesis was conducted, karyotype analysis or gene copy number variation (CNV) testing was performed, and the pregnancy outcome was tracked. RESULTS: Among 545 pregnant women in advanced maternal age, 11 cases had high risk of NIPT, and the detection rate was 2.02%. Among 11 pregnant women deemed to be at high risk for NIPT, 10 cases underwent amniotic fluid puncture, and one case refused amniocentesis despite a suggestive chromosomal abnormality in NIPT. The overall rate of amniocentesis was 1.83%. Among 11 pregnant women deemed to be at high risk for NIPT, the results suggested that 5 of them had trisomy 21, 1 had trisomy 18, 2 had sex chromosome abnormalities (specifically, 47, XYY), and 3 had other autosomal abnormalities. The positive predictive values of NIPT were 100.00% for the cases of trisomy 21 and trisomy 18, while the values were 0.00% for the cases of sex chromosome abnormalities and other autosomal abnormalities, respectively. After the follow-up, each of the 6 cases that were diagnosed with definite chromosomal abnormalities during prenatal screening opted to induce labor and terminate the pregnancy, including 5 cases that exhibited a high risk of trisomy 21 (47, XN,+21) and 1 case that showed a high risk of trisomy 18 (47, XN,+18). One instance of NIPT indicated a potential abnormality in the sex chromosomes, the individual declined to undergo amniocentesis. Another instance of NIPT suggested a sex chromosome abnormality, amniocentesis revealed a deletion of 0.72 Mb in the 4q22.1 region. They all had normal pregnancies and normal newborns. The remaining three cases had normal prenatal diagnoses (46, XN) and experienced normal pregnancies with healthy neonatal outcomes. CONCLUSIONS: NIPT has demonstrated its efficacy as a screening tool in the face of increasing maternal age. As a result, it can substantially decrease the requirement for invasive prenatal diagnosis. Nonetheless, there are instances of erroneous positive outcomes in NIPT testing, and therefore, interventional prenatal diagnosis remains necessary for individuals with high-risk screening outcomes to prevent false positives or unwarranted labor induction.

[Statistical methods of unmeasured confounder control based on negative control theory].

Controlling unmeasured confounders in non-randomized controlled studies is challenging. Negative control theory is based on the theoretical concept that the test result of negative controls must be negative. Setting appropriate negative control incorporates the specificity of association into population studies for the identification and control of unmeasured confounders. This paper explains the principles to control unmeasured confounders using negative control theory from a statistical perspective. A detailed introduction of derived methods based on negative control theory is also introduced, including adjusted standardized mortality ratio method, calibrating P-value method, generalized difference-in-difference model and double negative control method. The reasonable application of those derived methods is also comprehensively summarized based on representative case studies. Negative control is an important statistical design to identify, revise and control unmeasured confounders and a valuable method for comparative effectiveness research based on real-world data.

Pheochromocytoma in pregnancy: a case report.

BACKGROUND: Pheochromocytoma (PHEO) in pregnancy is a rare disease, and the management of this situation is not well established. The misdiagnosis of the disease often leads to adverse outcomes for both mothers and infants. CASE REPORT: Here, we describe a case of a pregnant woman at 25 weeks' gestation presenting with headache, chest tightness, and shortness of breath, which was found to have a left adrenal mass and hypertensive urgency and diagnosed pregnancy with PHEO in our hospital. The timely diagnosis and proper treatment came with an optimal maternal and fetal outcome. CONCLUSIONS: The case of pheochromocytoma in pregnancy we report demonstrated that early diagnosis and a multidisciplinary approach ensured a favorable prognosis for both maternal and fetal, and we also addressed the importance of individual basis evaluation during the whole journey.

Passion fruit peel and its zymolyte enhance gut function in Sanhuang broilers by improving antioxidation and short-chain fatty acids and decreasing inflammatory cytokines.

The passion fruit peel (PFP) is the by-product of juice processing and is rich in phenolic compounds and dietary fibers. As the high ADF content in PFP (34.20%), we proceeded to treat PFP with cellulase. The ADF decreased to 16.70% after enzymatic processing, and we supposed that enzymolytic passion fruit peel (EPF) should have a greater growth performance than PFP to broilers. Two trials were conducted to evaluate the effects of dietary PFP or EPF supplementation on growth performance, serum biochemical indices, meat quality, and cecal short-chain fatty acids, microbiota, and metabolites in broilers. In Exp. 1, 180 1-day-old Sanhuang broilers (male, 36.17 ± 2.47 g) were randomly allocated into 3 treatments, with 6 replicates in each treatment. The 3 experimental diets included 1 basal diet (control) and 2 PFP-added diets supplemented with 1 and 2% PFP, respectively. The trial lasted for 42 d. In Exp. 2, 144 Sanhuang broilers (male, 112-day-old, 1.62 ± 0.21 kg) were randomly allocated to 3 treatments. Each treatment was distributed among 6 pens, and each pen contained 8 broilers. The 3 treatment diets included: a control diet, a positive control diet supplementing 75 mg/kg chlortetracycline, and the experimental diet supplementing 3% EPF. The trial lasted for 56 d. Results showed that dietary 1 and 2% PFP addition did not affect growth performance in Exp. 1, and the 3% EPF supplementation had a negative effect on ADFI (P < 0.05) in Exp. 2. A decreased serum triglyceride (P < 0.05) in broilers was observed in Exp. 1. Broilers fed EPF had a higher glutathione peroxidase (GSH-Px) (P < 0.05), and lower levels of tumor necrosis factor-α (TNF-α) (P < 0.05) and glucose (P < 0.05) in Exp. 2. We also found that broilers from PFP or EPF-treated treatments had an increased butyrate content and higher microbial diversity in the cecum. The effects of antioxidation, anti-inflammatory function, and elevated SCFAs were confirmed after the microbe and untargeted metabolomic analysis. Dietary EPF supplementation significantly increased the SCFA-generating bacteria, anti-inflammatory-related bacteria, the antioxidant-related and anti-inflammatory-related metabolites. Moreover, dietary 3% EPF addition positively affects the biosynthesis of phenylpropanoids, which strongly correlate with the antioxidant and anti-inflammatory properties. In conclusion, the proper addition level did not affect the growth performance, and the PFP and EPF could improve the antioxidation state, anti-inflammatory activity, and intestinal functions of Sanhuang broilers to some extent.

Analysis of the anemia characteristics in early pregnancy and outcomes of pregnant women with hemoglobin H disease.

OBJECTIVE: This study aimed to analyze the anemia characteristics in early pregnancy of pregnant women with hemoglobin H (Hb H) disease and their pregnancy outcomes, and to provide reference to the pregnancy management and treatment of these women. PATIENTS AND METHODS: Twenty-eight cases of pregnant women who had been diagnosed with Hb H disease in the Second Affiliated Hospital of Guangxi Medical University from August 2018 to March 2022 were retrospectively analyzed. Moreover, 28 cases of normal pregnant women in the same period were randomly enrolled as a control group for comparison. The means and percentages of the anemia characteristics in early pregnancy and the pregnancy outcomes were calculated and the analysis of variance, Chi-square test, and Fisher's exact test were applied for comparison. RESULTS: A total of 13 cases of missing type (46.43%) and 15 cases of non-missing type (53.57%) were observed in the 28 cases of pregnant women with Hb H disease. The genotypes were as follows: 8 cases of -α3.7/--SEA (28.57%), 4 cases of -α4.2/--SEA (14.29%), 1 case of -α4.2/--THAI (3.57%), 9 cases of αCSα/--SEA (32.14%), 5 cases of αWSα/--SEA (17.86%), and 1 case of αQSα/--SEA (3.57%). Twenty-seven patients with Hb H disease (96.43%) were anemic, including 5 cases of mild anemia (17.86%), 18 cases of moderate anemia (64.28%), 4 cases of severe anemia (14.29%), and 1 case of non-anemia (3.57%). Compared with the control group, the Hb H group had significantly higher red blood cell count and significantly lower Hb, mean corpuscular volume, and mean corpuscular hemoglobin, and the differences were statistically significant (p < 0.05). The Hb H group had higher incidence rates of blood transfusion during pregnancy (BTDP), oligohydramnios fetal growth restrictions (FGR), and fetal distress than the control group. The weights of neonates were lower in the Hb H group than in the control group. Statistically significant differences were found between these two groups (p < 0.05). CONCLUSIONS: The genotype missing type of pregnant women with Hb H disease was mainly -α3.7/--SEA and the non-missing type was mainly αCSα/--SEA. Hb H disease can easily cause various degrees of anemia (mainly moderate anemia in this study). Moreover, it can increase the incidence rate of pregnancy complications such as BTDP, oligohydramnios, FGR, and fetal distress, which will reduce the weight of neonates and seriously affect maternal and infant safety. Therefore, maternal anemia and fetal growth and development should be monitored during pregnancy and delivery, and transfusion therapy should be used to improve adverse pregnancy outcomes caused by anemia when necessary.

[Safety and immunogenicity of freeze-dried rabies vaccine (Vero-cells) for human use in healthy people aged 9-65 years].

Objective: To assess the safety and immunogenicity of freeze-dried rabies vaccine (Vero-cells) for human use on different immunization procedures in healthy people aged 9-65 years. Methods: A randomized, blind, positive-controlled clinical study was conducted in March 2015. The eligible residents aged 9-65 were recruited in Dengfeng city and Biyang County, Henan Province. A total of 1 956 subjects were enrolled. The subjects were randomly (1∶1∶1) assigned to 5-dose control group, 4-dose trial group and 5-dose trial group, with 652 subjects in each group. The subjects of 5-dose control group were immunized with control vaccine on days 0, 3, 7, 14 and 28. The subjects of 4-dose trial group were immunized with trial vaccine on days 0, 7 and 21 (2-1-1 phases) and the subjects of 5-dose trial group were immunized with trial vaccine on days 0, 3, 7, 14 and 28. A combination of regular follow-up and active reporting was used to observe local and systemic adverse reactions till 30 days after the first and full immunization, and the incidence rate of adverse reactions in three groups was analyzed and compared. The venous blood was collected before the first immunization, 7 days after the first immunization, 14 days after the first immunization and 14 days after the full immunization. The neutralizing antibody of rabies virus was detected by rapid fluorescent focus inhibition test (RFFIT), and the seropositive conversion rate and geometric mean concentration (GMC) of antibody were calculated. Results: The adverse reaction rates in 5-dose control group, 4-dose trial group and 5-dose trial group were 41.87% (273/652), 35.43% (231/652) and 34.97% (228/652), respectively. The adverse reaction rates of 4-dose trial group and 5-dose trial group were lower than those of the 5-dose control group (P<0.05). The local reactions were mainly pain, itching, swelling and redness in injection site, while the systemic reactions were mainly fever, fatigue, headache and muscle pain. The severity of adverse reactions was mainly mild (level 1), accounting for 85.33% (518/607), 89.02% (373/419) and 88.96% (427/480) of the total number of adverse reactions in each group. At 14 days after the first immunization and 14 days after the full immunization, the antibody positive conversion rates of three groups were all 100%. At 7 days, 14 days after the first immunization and 14 days after the full immunization, the GMCs of three groups were 0.60, 0.72, 0.59 IU/ml, 20.42, 23.99, 24.38 IU/ml and 22.95, 23.52, 24.72 IU/ml, respectively, with no significant difference (P>0.05). Conclusion: The freeze-dried rabies vaccine (Vero-cells) for human use has good safety and immunogenicity when inoculated according to 5-dose and 4-dose immunization procedures.

Association of MTHFR gene C677T polymorphism with pregnancy outcome.

OBJECTIVE: The two objectives of the present study were to analyze the correlation between pregnancy outcomes and methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism, and to provide evidence for clinical improvement of adverse pregnancy outcomes. PATIENTS AND METHODS: 1,995 cases of pregnant women were selected as objects of the study, and underwent MTHFR gene C677T polymorphism detection in the Second Affiliated Hospital of Guangxi Medical University from October 2020 to September 2021, in which 919 cases whose pregnancy outcomes could be tracked. According to the result of MTHFR gene C677T polymorphism detection, 1,995 cases of pregnant women were classified into a wild-type (CC) group, heterozygous (CT) group, or homozygous (TT) group, and the distributions of MTHFR gene C677T polymorphism in pregnant women were analyzed. In addition, according to complications, 919 cases of pregnant women whose pregnancy outcomes could be tracked were divided into the normal pregnancy group (676 cases), GDM group (146 cases), HDP group (47 cases), abnormal fetus group (13 cases), and spontaneous abortion group (37 cases), and the genotype distributions of MTHFR gene C677T in each group were analyzed. Besides, according to genotype, 919 cases of pregnant women whose pregnancy outcome could be tracked were divided into CC group (515 cases), CT group (289 cases), and TT group (115 cases), and the correlation between genotype and pregnancy outcomes, such as fetal distress, postpartum hemorrhage, premature birth, and full-term delivery, was then analyzed. RESULTS: For the C677T locus of MTHFR gene in the 1,995 cases of pregnant women, there are 1,162 (58.25%) cases of CC genotype, 649 (32.53%) cases of CT genotype, 184 (9.22%) cases of TT genotype. The proportion of TT genotype in GDM, HDP, abnormal fetus, and spontaneous abortion groups were respectively 19.86% (29/148), 25.53% (12/47), 46.15% (6/13), 40.54% (15/37), which were significantly higher than that in normal pregnancy group (7.84%, 53/676), and there were statistically significant differences (p < 0.05). The full-term birth rate in TT group (75.65%, 87/115) was lower than those of CC group (91.26%, 470/515) and CT group (89.27%, 258/289), and there were statistically significant differences (p < 0.05). CONCLUSIONS: The TT type gene mutation at the C677T site ofMTHFR gene is closely related to conditions that contribute to a decrease in the number of full-term births and increase the risk of adverse pregnancy outcomes, including GDM, HDP, spontaneous abortion, and fetal abnormalities.

[Immunogenicity of group A+C meningococcal polysaccharide conjugate vaccine in infants: A phase â ¢ clinical trial study].

Objective: To evaluate the immunogenicity of group A+C meningococcal polysaccharide conjugate vaccine in infants under 2 years old. Methods: From March 2017 to June 2018, 1 932 healthy infants in Biyang County, Henan Province, who were not vaccinated with meningococcal meningitis vaccine and whose axillary temperature was ≤37.0 ℃, were recruited as participants. The 3 months and 6-11 months old infants were allocated to the experiment group and the control group in a ratio of 1∶1. Infants aged 12-23 months were allocated to the 1-dose group, the 2-dose group and the control group in a ratio of 1∶1∶1, with 276 infants in each group. The infants in the experiment group were intramuscularly injected with freeze-dried group A+C meningococcal polysaccharide conjugate vaccine to be evaluated, and infants in the control group received intramuscular injection of commercially available freeze-dried group A+C meningococcal conjugate vaccine. The venous blood of infants was collected 30 days before the first dose and after the last dose of inoculation, and the antibody seroconversion of each group was determined and compared. Results: The completion rate of immunogenicity study was 95.2% (1 839/1 932). Before inoculation, there was no statistical difference in the geometric mean titer and positive rate of group A+C antibodies between the experiment group and the control group in 3 months and 6-11 months old infants (all P values >0.05). The geometric mean titers and positive rate of group A antibodies in the 1-dose group were higher than those in the control group (all P values <0.05), but there was no statistical difference between the 2-dose group and the control group (all P values >0.05) in infants aged 12-23 months. After inoculation, the differences (95%CI) in the positive conversion rate of group A+C antibodies between the experiment group and the control group were -0.12% (-6.01%-5.77%) and 0.82% (-4.23%-5.86%) in the 3 months old infants. At the age of 6-11 months, the differences were 6.75% (1.71%-11.79%) and -4.32% (-8.73%-0.08%), respectively. At the age of 12-23 months, the differences were 1.02% (-3.80%-5.83%) and -4.40% (-7.79%- -1.01%) in the 2-dose group and -7.22% (-12.90%- -1.54%) and -18.61% (-23.75%- -13.46%) in the 1-dose group, respectively. The geometric mean titers of group A+C antibodies in the 3 months old infants were 48.50 and 63.12, respectively, which had no significant difference from the control group (43.02 and 57.99, respectively) (both P values <0.05). The geometric mean titers of group A+C antibodies in the 6-11 months and 12-23 months old infants were 84.09 and 92.51 (2-dose group), which were higher than those in the corresponding control group (43.10 and 61.83, respectively) (all P values <0.001). Conclusion: Group A+C meningococcal conjugate vaccine has good immunogenicity in infants under 2 years old.

[Analysis of physical growth of preterm infants with different intrauterine growth patterns in Haikou].

Objective: To analyze the physical growth of preterm infants with different intrauterine growth patterns. Methods: A total of 10 856 preterm infants who were born in various districts of Haikou City from October 1st, 2015 to June 1st, 2021 and received regular health care and management were retrospectively enrolled. The preterm infants were divided into appropriate for gestational age (AGA), small for gestational age (SGA) and large for gestational age (LGA) groups according to different intrauterine growth patterns. The general characteristics of preterm infants in different groups were compared by H test (Kruskal and Wallis) or Chi-squared test. And the developmental curves were plotted by local regression (LOESS) with their physical growth indexes. Results: Of the 10 856 preterm infants, 6 317 were boys and 4 539 were girls. The gestational age at birth was 35 (34, 36) weeks, and the birth weight was 2.5 (2.1, 2.8) kg. There were 754 (6.9%) SGA, 9 301 (85.7%) AGA, and 801 (7.4%) LGA preterm infants. All preterm infants were followed up until 18 months of corrected age. The birth weight of the SGA group was lower than that of the AGA and LGA groups (Z=2 274.93, P<0.001). The proportion of exclusive breastfeeding at the first health care interview was higher in the AGA group (68.6% (6 378/9 301)) than in the SGA group (62.9% (474/754)) (χ2=13.82, P=0.003). The LOESS curving fitting showed that the weight and height of the preterm infants in all the 3 groups increased rapidly during 0-6 months of corrected age. The regression prediction values of weight for age Z-score (WAZ), height for age Z-score (HAZ) and weight for height Z-score (WHZ) were around 0 s, while the regression prediction values of these three indicators in SGA were all below 0 s but greater than -1 s. The rates of low birth weight, growth retardation and wasting during 0-17 months of corrected age were 0.3% (16/4 838)-1.9% (47/2 506), 0.4% (18/4 838) -2.4% (51/2 124), and 2.1% (88/4 135) -4.4% (214/4 838) in AGA groups, and 0 (0/296) -1.0% (2/199), 0 (0/341) -1.6% (3/186) and 1.0% (2/199) -2.6% (9/341) in LGA group, whereas 7.6% (25/330) -16.8% (28/167), 5.2% (17/330)-10.6%(32/303) and 3.9% (3/77) -12.6% (21/167) in SGA group. In addition, the monthly growth of weight and height of preterm infants in all the 3 groups decreased with the increasing age, and the monthly weight gain. The length increment was 4.0 cm/month during corrected 0-2 month of age and 2.4 cm/month during corrected 2-5 month of age in the SGA preterm infants. Conclusions: Most of the preterm infants could have an appropriate catch-up growth, but the growth and development in the SGA preterm infants lags behind that of their AGA and LGA peers. The physical growth of SGA premature infants should be paid more attention to, to timely correct the growth deviations.

Analysis results of 579 cases of genomic copy number variation sequencing of pregnant women in prenatal diagnosis.

OBJECTIVE: This study explored the usefulness of genomic copy number variation sequencing (CNV-Seq) in the prenatal diagnosis of pregnant women. PATIENTS AND METHODS: Based on prenatal diagnostic indications, CNV-Seq analysis was done in the samples from the 579 pregnant women of the 7 subgroups that included advanced maternal age (group A), high risk noninvasive prenatal test (NIPT) (group B), high risk Down's (Group C), abnormal ultrasound findings (Group D), adverse pregnancy history (Group E), chromosome abnormalities in couples (Group F), and the mixed group (Group G). RESULTS: A total of 57 (9.84%) cases have abnormal CNV-Seq results. Among them, 21 cases were aneuploid chromosomal number abnormalities (3.63%, 21/579), and 36 cases were CNV abnormalities (6.22%, 36/579), including 7 cases of pathogenic copy number alteration (pCNA) (1.21%, 7/579) and 29 cases variants of uncertain significance (VUS) (5.01%, 29/579). The total detection rates of abnormal CNV-Seq in Group G and Group B were 20.27% (15/74) and 15.91% (14/88), which were significantly higher than those in other groups (p < 0.05). Among 36 cases of abnormal CNV-Seq, 7 cases were chromosome fragment deletion or duplication, which were pathogenic CNV, and some rare chromosomal diseases were detected. CONCLUSIONS: Patients with a high risk of NIPT or multiple indications of prenatal diagnosis are highly suspected of chromosomal diseases. CNV-Seq is a useful tool for detecting chromosome abnormalities for prenatal diagnosis of pregnant women more accurately and provides more comprehensive information for prenatal diagnosis to reduce birth defects.

Research on PEP-3 psychological education evaluation system for disabled children and autistic children in minority areas.

OBJECTIVE: Rehabilitation of disabled children with autism has become a challenge for current rehabilitation centres. This study conducted psychological investigations on disabled children and analysed the symptoms and characteristics of autism in these children to develop more reasonable rehabilitation treatment plans that would help the children receive psychological counselling and effective rehabilitation. SUBJECTS AND METHODS: This study investigated 107 disabled children from the Disabled Rehabilitation Research Centre of the South China Minority Autonomous Region. Using the PEP-3 scale as a research tool, a questionnaire was developed to investigate and collect data on the mental health of disabled children. The survey was conducted from 2017 to 2021, and 107 children's mental health data were collected in the form of questionnaires based on PEP-3 evaluation indicators. After cleaning the data, the questionnaire data were screened and processed. Descriptive statistical and correlation analysis tools were used for model analysis to understand the overall data distribution and the potential relationships among various data variables. RESULTS: The results of correlation analysis showed that cognition, language expression, language understanding, emotion, and social interaction in the subtest of developmental behaviour were the main indicators of the degree of autism in children. These indicators had a strong and significant correlation with the comprehensive score. Moreover, these indicators had a significant correlation with the individual self-care and adaptive behaviours reported by the children's caregivers. Small muscles, big muscles, and imitation (vision and movement) indicators had a significant correlation with problematic behaviours and physical fitness, and language and cognitive indicators also had a strong correlation with emotion and social interaction. CONCLUSIONS: Emphasis should be placed on the improvement of the language and cognitive abilities of disabled children with autism, and corresponding rehabilitation plans, and training can be formulated according to children with different degrees of illness to get a better rehabilitation outcome. Further, identification of key indicators of autism will be of help in aiding the development of rehabilitation treatment for disabled children with autism and formulation of long-term rehabilitation plans.

[An area under curve-based nomogram to predicts vancomycin-associated nephrotoxicity in critically ill patients: a retrospective cohort study].

Objective: To develop an area under curve (AUC)-based nomogram to predict vancomycin-associated nephrotoxicity in critically ill patients. Methods: This retrospective cohort study included adult patients treated with vancomycin in the intensive care unit at a tertiary teaching hospital from January 2015 to December 2017. Baseline clinical characteristics before vancomycin treatment and pharmacokinetic parameters were collected to establish a prediction model of nephrotoxicity. Univariate analysis was used to screen variables, and multivariate logistic regression analysis was used to establish the prediction model and nomogram. Results: A total of 159 patients met the inclusion criteria, sixty-four were included in the final analysis. Sixteen patients (25%, 16/64) developed vancomycin-associated nephrotoxicity. The following variables were incorporated into the prediction model: vancomycin AUC, estimated glomerular filtration rate (GFR), and combined nephrotoxic drugs. The following equation was established to calculate the probability of nephrotoxicity: logit (P)=-4.83+0.009×AUC-2.87×1 (if GFR>60 ml/min)+2.53×1 (if number of combined nephrotoxic drugs≥2). A nomogram was generated based on the equation. The receiver-operating characteristic curve demonstrated that the AUC of the prediction model was 0.927 (95%CI 0.851-1.000). The cut-off value of the probability of nephrotoxicity was 26.48%. The sensitivity and specificity were 87.5% and 87.5% respectively. Conclusion: The incidence of vancomycin-associated nephrotoxicity is high. The AUC-based nomogram can effectively predict vancomycin-associated nephrotoxicity in critically ill patients.