【Objective】 To explore the application value of different language assessment tools in the assessment of language development of 12-month-old high-risk infants, and to screen out simple and valid language assessment tools. 【Methods】 A total of 217 11- to 13-month-old high-risk infants who were followed up at the outpatient service for high-risk infants at the child health clinic of Guiyang Maternal and Child Health Hospital from March 2022 to May 2023 were selected as the study subjects. Their language was evaluated by Early Language Milestone Scale (ELMS), Putonghua Communicative Development Inventory (PCDI) and Ages and Stages Questionnaire-Third Edition (ASQ-3). With Gesell as the gold standard for the assessment of language, the area under receiver operating characteristic curve (AUC), sensitivity, specificity, accuracy, positive predictive value, negative predictive value, Youden index and Kappa value of the three tools were calculated. Spearman correlation analysis was used to analyze the correlation between the different language assessment scales. The Technique for Order Preference by Similarity to Ideal Solution (TOPSIS) was used to evaluate the three tools. 【Results】 1)Among 217 high-risk infants, 78 preterm infants was the most (35.94%). The rate of delayed language development detected by Gesell, ELMS, PCDI-comprehension, PCDI-expression, ASQ-3 were 5.5%, 7.8%, 36.4%, 30.0% and 11.5%, respectively. 2)ASQ-3 had the strongest correlation with Gesell language region (rs=0.607, P<0.01) and it had the most AUC (AUC=0.812, P<0.05). The consistency between ASQ-3 and Gesell was moderate (Kappa=0.56, P<0.01). ASQ-3 had the highest sensitivity(91.7%), accuracy(93.1%), negative predictive value(99.5%) and Youden index(0.85), and ELMS had the highest specificity(94.6%). 3) Comprehensive evaluation of three tools by the TOPSIS indicated that ASQ-3 was the best, followed by ELMS and PCDI-comprehension was the worse. 【Conclusion】 Among the three assessment tools, ASQ-3 has the highest value in assessing the language development of 11- to 13-month-old high risk infants, and it may be necessary to expand the age range and establish a national norm of ELMS and PCDI in the future.

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

【Objective】 To investigate the effect of isoliquiritigenin on inflammatory response of vascular endothelial cells and whether the regulatory effect of isoliquiritigenin on inflammation is mediated by histone deacetylase 3 (HDAC3). 【Methods】 Human umbilical vein endothelial cells (HUVECs) were cultured in vitro and treated with LPS, different concentrations of isoliquiritigenin and HDAC3 specific inhibitor, respectively. Real-time PCR and Western blotting were used to detect the mRNA and protein expressions of inflammatory cytokines and HDAC3. Male C57BL/6J mice were randomly divided into vehicle group and isoliquiritigenin treatment group. The vascular inflammation model of C57BL/6J mice was established by ligation of the left carotid arteries. The mRNA expressions of inflammatory cytokines and HDAC3 in the carotid arteries of mice were detected by Real-time PCR. A molecular docking study was performed to investigate the interaction between isoliquiritigenin and HDAC3. 【Results】 Compared with the vehicle group, isoliquiritigenin reduced the mRNA expressions of inflammatory cytokines NLRP3, IL-1β, IL-18, MCP-1 and ICAM-1 and decreased the expression of HDAC3 mRNA and protein in HUVECs stimulated with LPS. In addition, isoliquiritigenin also decreased the mRNA expressions of NLRP3, IL-1β and HDAC3 in carotid arteries of ligated C57BL/6J mice. The docking of isoliquiritigenin in the active site of HDAC3 showed that isoliquiritigenin might act through HDAC3. Furthermore, HDAC3 specific inhibitor RGFP966 further promoted the inhibitory effect of isoliquiritigenin on the expression of inflammatory cytokines in vascular endothelial cells. 【Conclusion】 These results suggest that isoliquiritigenin suppresses the inflammatory response of vascular endothelial cells via HDAC3.

Objective To investigate the clinical features of hypopituitarism with nonalcoholic fatty liver disease (NAFLD) in children after sellar tumor surgery and the association between hypopitarism and NAFLD in children. Methods A retrospective analysis was performed for the clinical data of children with hypopituitarism and NAFLD after sellar tumor surgery who were followed up regularly in Wuhan Children's Hospital, Tongji Medical College, Huazhong University of Science and Technology, from January 2017 to December 2021, and their clinical features were analyzed. Results There were 32 children with regular follow-up and complete clinical data after sellar tumor surgery, and 10 children (31.25%) developed NAFLD, among whom there were 5 boys and 5 girls. Among these 10 children, 9 had craniopharyngioma and underwent surgical treatment, and 1 had germinoma and underwent local radiotherapy. The 10 children had a median age of 8.4(6.29.8) years at the diagnosis of hypopituitarism and a median age of 11.9(8.7-12.6) years at the diagnosis of NAFLD. The median number of years from the diagnosis of hypopituitarism to the diagnosis of NAFLD was 2.0(1.4-4.0) years. At the diagnosis of NAFLD, all 10 children had obesity, and body mass index (BMI) was increased by 7.26±4.25 kg/m 2 on average since the diagnosis of hypopituitarism; the 10 children had a mean fasting blood glucose level of 4.67±0.55 mmol/L, a mean fasting insulin level of 25.40±5.93 μIU/ml, and a mean HOMA-IR index of 5.26±1.29. Among these 10 children, 9 had hypertriglyceridemia, and 1 had elevated triglyceride, with a mean level of 3.08±1.09 mmol/L; 6 children had hypercholesterolemia, with a mean level of 5.67±1.25 mmol/L; 8 children had high-density lipoprotein cholesterolemia, with a mean level of 3.97±1.27 mmol/L. After the diagnosis of NAFLD, 2 children were treated with recombinant human growth hormone and metformin and achieved reductions in BMI, HOMA-IR, and triglyceride after treatment, and total cholesterol and low-density lipoprotein cholesterol were reduced to the normal range. Conclusion Children may experience weight gain, hypopituitarism, insulin resistance, and dyslipidemia after sellar tumor surgery, which may lead to the onset of NAFLD. Weight management and active pituitary hormone replacement therapy are recommended for such children, as well as routine screening and management of fatty liver disease.

OBJECTIVE: To report on a case of mosaicism 13q inversion duplication, analyze its mechanism, and discuss the correlation between its genotype and phenotype. METHODS: Amniotic fluid and umbilical cord blood were collected at 23 and 32 weeks of gestation, respectively. Combined with G-banding chromosome karyotyping analysis, single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were used to confirm the result. RESULTS: The karyotype of the fetus was determined as 47,XY,+inv dup(13)(q14.3q34)/46,XY. After careful counseling, the couple decided to continue with the pregnancy, and had given birth to a boy at 40 weeks' gestation. Except for a red plaque (hemangioma) on the nose bridge, no obvious abnormality (intelligence to be evaluated) was discovered. CONCLUSION To provide reference for clinical genetic counseling and risk assessment, the location and proportion of new centromere formation should be fully considered in the case of mosaicism 13q inversion duplication.
Amniocentesis ; Chromosome Inversion/genetics* ; Comparative Genomic Hybridization ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Mosaicism ; Pregnancy ; Prenatal Diagnosis

Objective:This study explored the consistency of liquid chromatography-tandem mass spectrometry (LC-MS/MS) and immunoassay for the detection of steroid hormones. The diagnostic value of multiple steroid hormones in 21-hydroxylase deficiency (21-OHD) was investigated and the follow-up indicators were screened.Methods:This experimental group included 109 patients with typical 21-OHD who received standard treatment, and the control group included 94 normal children. 17-hydroxyprogesterone (17-OHP), androstenedione (Δ4-A), testosterone and cortisol were detected by immunoassay and LC-MS/MS method. At the same time, 16 other adrenal steroids were detected by LC-MS/MS method. The experimental group was divided into: (1) overtreatment group: 17OHP<4 ng/ml; (2) well controlled group: 4 ng/ml≤17-OHP<12 ng/ml; (3) poorly controlled group: 17-OHP≥12 ng/ml. The following studies were carried out. (1) The consistency of immunoassay and LC-MS/MS detection results was analyzed; (2) The serum concentrations of various steroid hormones in patients with 21-OHD and the control group were compared to explore the diagnostic value of multiple steroid hormones detection; (3) The concentration differences of 20 kinds of steroid hormones in 21-OHD patients with different therapeutic effects were compared to screen more valuable follow-up indicators.Results:(1) among the four indicators detected by LC-MS/MS and immunoassay, the consistency of T and 17-OHP was high. The concentrations of cortisol and Δ4-A determined by immunoassay were higher than those determined by LC-MS/MS. (2) Among the 20 kinds of steroid hormones secreted by adrenal gland detected by LC-MS/MS, 6 kinds of hormones were significantly higher and 6 kinds of hormones were significantly lower in 21-OHD patients compared with the control group, ,and 8 kinds of steroids showed no statistical difference. (3) 17-OHP decreased and 11-deoxycortisol increased in over-inhibition group, while 17-OHP, pregnenolone, progesterone, 17-hydroxypregnenolone, 21-deoxycortisol, Δ4-A and estrone increased in the poorly controlled group.Conclusions:LC-MS/MS can detect many kinds of steroid hormones at one time with better evaluate dimensions. During the follow-up, only 8 of the 20 hormones were closely related to the control status of patients, suggesting that unnecessary testing work could be reduced.

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

Objective:To explore the therapeutic effect of sodium hyaluronate combined with glucosamine sulfate in the treatment of knee osteoarthritis.Methods:A total of 90 outpatients and inpatients with knee osteoarthritis who visited the Department of Orthopedics and Traumatology, Daishan County Hospital of Traditional Chinese Medicine from January to June 2020 were selected, and they were divided into sodium hyaluronate group (control group) and sodium hyaluronate combined with glucosamine sulfate group (observation group) by random number table method, with 45 patients in each group. Visual analog scale (VAS) score was used to evaluate the changes of pain in the two groups before treatment, 5 weeks and 6 months after treatment, respectively; at the same time, the total effective rate of 5 weeks and 6 months after treatment was compared between the two groups.Results:Before treatment, there was no significant difference in VAS scores [(7.4 ± 1.5) vs (7.3 ± 1.7) points] between the two groups ( t = 0.24, P = 0.812); at 5 weeks [(5.3 ± 1.1) vs (4.1 ± 1.2) points] and 6 months after treatment [(4.0 ± 0.8) vs (3.2 ± 0.9) points], the VAS scores of the observation group were significantly lower than those of the control group, and the differences were statistically significant ( t = 5.54, 5.32, P < 0.001). Compared with the same group before treatment, VAS scores were lower in the two groups at 5 weeks and 6 months after treatment, and the differences were statistically significant ( P < 0.05). At 5 weeks after treatment, there was no significant difference in the total effective rates [44.4% (20/45) vs 48.9% (22/45)] between the two groups (χ 2 = 0.18, P = 0.672); at 6 months after treatment, the total effective rate of the observation group (91.1%, 41/45) was significantly higher than that of the control group (66.7%, 30/45), and the difference was statistically significant (χ 2 = 8.07, P = 0.004). Conclusion:Sodium hyaluronate combined with glucosamine sulfate can significantly reduce the pain in patients with knee osteoarthritis, the total effective rate is higher, and is better than the effect of sodium hyaluronate alone.

Objective:To compare the clinical outcomes and safety of haploidentical donor (HID)and HLA-matched sibling donor(MSD)hematopoietic stem cell transplantation(HSCT)for severe aplastic anemia(SAA).Methods:From January 1, 2012 to December 31, 2019, retrospective review of clinical data was performed for 75 SAA patients undergoing HSCT at Department of Hematology, Affiliated Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology.Based upon donor sources, they were divided into two groups of MSD(49 cases)and HID (26 cases). And two groups were compared with regards to hematopoietic recovery, graft-versus-host disease(GVHD)infection and overall survival(OS).Results:Time of platelet and neutrophil engraftment of two groups was comparable(11 d vs.11 d, P=0.84; 11 d vs.12 d, P=0.08). Compared with HID group, MSD group had a lower incidence of acute GVHD(46.2% vs.18.4%, P=0.01)with a comparable incidence of grade Ⅱ-Ⅳ acute GVHD(26.9% vs.14.3%, P=0.24), grade Ⅲ-Ⅳ acute GVHD(15.4% vs.4.1%, P=0.09)and chronic GVHD(23.9% vs.23.1 %, P=0.71). A reactivation of CMV occurred in 27(55.1%)MSD and 22(84.6%)HID recipients( P=0.01). And the incidence of EB viremia was 69.4% and 61.5% respectively.After a median follow-up period of 54.0 and 18.5 months, the estimated 3-year OS rate of MSD and HID groups were 94.0% and 88.0% respectively ( P=0.35). Conclusions:HID HSCT is an effective and relatively safe option for SAA patients, especially for those in urgent need of treatment without MSD or refractory/relapse to immunosuppressive therapy.

Objective To investigate aluminum content in commercially available flour products in Minhang District, Shanghai, and to assess the risk of dietary aluminum exposure among permanent residents in Minhang. Methods From 2018 to 2019, a total of 227 samples including fried flour products, steamed flour products, puffed products and baked flour products, were collected in Minhang District to detect the aluminum content. The food frequency table was used to investigate the consumption of flour foods by permanent residents in Minhang District and to assess population dietary aluminum exposure risk. Results The average content of aluminum in 227 kinds of flour products was 31.66 mg/kg, and the exceeding standard rate was 3.96%. The over-standard foods were all fried flour products, and the over-standard rate reached 10.47%. Moreover, the aluminum over standard rate of flour products produced by itinerant vendors and restaurants was significantly higher than that of flour products produced by supermarkets and manufacturers. The average dietary intake of aluminum in Minhang residents was 0.18 mg/kg per week, accounting for 9.03% of the provisional tolerable weekly intake (PTWI). The aluminum exposure of the population with high consumption of foods was 1.4 mg/kg per week, accounting for 69.90% of the PTWI. Among the four types of flour products, fried flour products had the highest contribution rate to aluminum exposure. The daily consumption of fried flour products in males was significantly higher than that in females (P<0.05), and the 18-34 age group was significantly higher than the 60 years old and above group (P<0.05). Conclusion The risk of the average dietary aluminum exposure of flour foods among Minhang residents is relatively low, but people with high consumption of foods would be confronted with increased health risks. It is necessary to strengthen the supervision on the use of aluminum-containing additives in itinerant vendors and restaurants, and actively advocate reducing the frequency and the consumption of fried flour products, thus reduce the exposure to the high risk of dietary aluminum in fried flour products