Objective:To explore the genetic basis for a child featuring global developmental delay and epilepsy.Methods:A child who had presented at Guangzhou Women and Children′s Medical Center Liuzhou Hospital on February 19, 2023 was selected as the study subject. Clinical data of the child was collected. The child was subjected to whole exome sequencing, and candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The child, an 8-month-old girl, had manifested with global developmental delay, epilepsy, and hyperlactacidemia. Cranial MRI revealed diverse hypomyelinating leukodystrophies. Electroencephalogram showed slow background activities. Genetic testing revealed that she has harbored a homozygous variant of the SLC25A12 gene, namely c. 115T>G (p.Phe39Val), for which both of her parents were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was predicted to be of uncertain significance (PM2_Supporting+ PM3_Supporting+ PP3_Moderate+ PP4_Moderate). I-Mutant v3.0 software predicted that the variant may affect the stability of protein product. Conclusion:The homozygous c. 115T>G (p.Phe39Val) variant of the SLC25A12 gene probably underlay the pathogenesis of the disease in this child.

Objective To explore the correlation between the expression of long non-coding RNA(lncRNA)brain ischemia-related factor(BIRF)and focally amplified lncRNA on chromosome 1(lncRNA FAL1)in serum and the degree of white matter lesions(WML)in patients with cerebral small vessel disease(CSVD).Methods From June 2021 to June 2023,102 CSVD patients admitted to Affiliated Hospital of Chengde Medical University were collected,and these patients were grouped into WML group(n=72)and non WML group(n=30)based on WML diagnostic criteria.According to the Fazekas score,the WML group was further grouped into mild WML group(n=24),moderate WML group(n=36)and severe WML group(n=12).Real-time fluorescence quantitative polymerase chain reaction(qRT-PCR)was applied to detect the levels of lncRNA BIRF and lncRNA FAL1 in serum.Pearson correlation was applied to analyze the correlation between serum lncRNA BIRF and lncRNA FAL1 levels.Receiver operating characteristic(ROC)curve was applied to analyze the diagnostic value of serum lncRNA BIRF and lncRNA FAL1 levels for severe WML in CSVD patients.Results The age(70.50±5.86 years),history of hypertension(Yes/No,43/29),history of diabetes(Yes/No,45/27),IL-33(68.35±6.80 pg/ml),IL-18(97.78±9.65 ng/L),ubiquitin carboxyl terminal hydrolase L1(UCH-L1)(0.29±0.10 μg/L)and lncRNA BIRF level(2.45±0.30)of patients in the WML group were higher than those in the non WML group(67.10±5.76 years,11/19,9/21,62.48±6.13 pg/ml,92.56±9.37 ng/L,0.24±0.06 μg/L,1.02±0.11),while the expression of serum lncRNA FAL1(0.52±0.10)was lower than that in the non WML group(1.04±0.15),with significant differences(t=2.683,4.518,8.978,4.085,2.510,2.550,25.346,20.500,all P<0.05).The serum lncRNA BIRF levels of CSVD patients in the mild,moderate and severe WML groups(2.23±0.23,2.47±0.31,2.82±0.42)were increased sequentially,while the expression of serum lncRNA FAL1(0.60±0.15,0.51±0.09,0.40±0.04)was decreased sequentially,with significant differences(F=14.913,13.899,all P<0.05).Pearson correlation analysis,the serum levels of lncRNA BIRF and lncRNA FAL1 in patients with WML were negatively correlated(r=-0.603,P<0.001),serum lncRNA BIRF was positively correlated with Fazekas score in WML patients(r=0.483,P<0.001),but serum lncRNA FAL1 was negatively correlated with Fazekas score(r=-0.507,P<0.001).The AUCs of serum lncRNA BIRF and lncRNA FAL1 levels alone and both combination for predicting severe WML in CSVD patients were 0.756(0.641～0.850),0.839(0.733～0.915)and 0.892(0.796～0.953),respectively,and the combination of the two was superior to the detection of serum lncRNA BIRF alone(Z=2.111,P=0.035).Conclusion The serum lncRNA BIRF level is increased and lncRNA FAL1 is reduced in patients with CSVD and WML,and both are related to the degree of WML in CSVD patients.

Objective: To develop a headspace gas chromatography ( HS-GC ) assay for simultaneous determination of dichloroacetic acid ( DCA ) and trichloroacetic acid ( TCA ) in urine. Methods: Urine samples (5 mL) were transferred to a 22 mL headspace bottle, added with 0.5 mL 10% sodium acetate solution , immediately sealed, and shaken evenly. The bottle was placed in the HS-GC system, and equilibrated at 90 ℃ for 60 minutes. The mixture was separated with the HP-INNOWAX chromatographic column, and the DCA and TCA concentrations were detected with the hydrogen flame detector. Results: Under the optimal experimental conditions, the correlation coefficient of DCA and TAC was both > 0.999 0 within the range of 10-500.0 μg/L, and the lowest detection limits of DCA and TAC were 2.0 and 3.5 μg/L, with the spike recovery rate of 87.40% to 101.44%, and relative standard deviations of 1.89% to 3.25%. Of the 35 urine samples sampled from occupational populations, DCA and TCA were not detected. Conclusions The establishment of the HS-GAS assay through addition of sodium acetate and optimization of the headspace conditions, has high recovery and precision, which is effective to meet the requirements for daily determination of DCA and TCA in urine samples.

Objective:To investigate the effect of nurse-led stress inoculation training on fear of self-injecting and self-testing and self-management behaviors in elderly type 2 diabetic patients and provide reference for diabetes nursing care.Methods:A total of 110 elderly type 2 diabetic patients of Department of Endocrinology of Hainan People′s Hospital from January 2018 to January 2020 were divided into experimental group and control group according to odd and even numbers, with 55 patients in each group. The control group received routine nursing care, while the experimental group implemented nurse-led stress inoculation training for 4 weeks. The intervention effect was assessed by Diabetes Fear of Injecting and Self-testing Ouestionnaire (D-FISQ) and Diabetes self-management behaviors among older (DSMB-O), respectively.Results:In the study, one patient in the experimental group fell off, and finally included 54 cases in the experimental group and 55 cases in the control group. After intervention, the fear of self-injecting scores, fear of self-testing scores, and total D-FISQ scores were 13.15 ± 3.02, 15.67 ± 3.59 and 28.81 ± 5.08 in the experimental group, significantly lower than those in the control group (15.25 ± 3.18, 17.56 ± 3.92 and 32.82 ± 4.89), the difference was statistically significant ( t=3.55, 2.63, 4.19, P<0.05). Active exercises, current medication, blood glucose monitoring, dealing with problem, active response, reducing risks scores and total DSMB-O scores were 2.39 ± 0.49, 2.39 ± 0.49, 2.20 ± 0.81, 4.41 ± 0.92, 4.70 ± 1.13, 5.06 ± 0.79 and 25.28 ± 2.57 in the experimental group, significantly higher than those in the control group (3.95 ± 0.85, 2.11 ± 0.85, 1.51 ± 0.50, 3.95 ± 0.78, 4.13 ± 1.43, 4.38 ± 1.16 and 22.09 ± 2.24), the difference was statistically significant ( t values were 2.10-6.90, P<0.05). Conclusions:Nurse-led stress inoculation training can effectively alleviate fear of self-injecting and self-testing and promote self-management behaviors of elderly patients with type 2 diabetes.

Objective:To detect serum levels of vitamin A (Vit A), vitamin D(Vit D)25-hydroxy vitamin D[25-(OH)D] and vitamin E(Vit E) in children aged 0-6 years in Tibetan Plateau of Garzi Prefecture, thus providing references for physical examinations and prevention of 4 key diseases (rickets, malnutrition anemia, pneumonia and diarrhea) in children in plateau areas by relevant government departments.Methods:A total of 2 122 children who participated in physical examination in 12 townships of Xiangcheng County and 14 townships of Daocheng County, Garzi Tibetan Autonomous Prefecture, Sichuan Province from April 2017 to April 2019 with 0-6 years old were recruited for surveying physical measurements and collection of venous blood.Serum Vit A and Vit E levels were detected by high performance liquid chromatography.Serum levels of 25-(OH)D were detected by high performance liquid chromatography tandem mass spectrometry.The relationship between Vit A, Vit E and 25-(OH)D levels with the gender, age, seasonal change and altitude was analyzed.Results:The serum Vit A level, subclinical Vit A deficiency rate and marginal vitamin A deficiency rate were(1.05±0.27) μmol/L, 8.15%(173/2 122 cases) and 45.99%(976/2 122 cases), respectively in 2 122 children with 0-6 years old.There were significant differences in the serum Vit A level, the subclinical Vit A deficiency rate and the marginal vitamin A deficiency rate in children with different ages, seasons and altitudes (all P<0.05). The serum level of 25-(OH)D and 25-(OH)D deficiency rate insufficient rate were (24.65±6.45) ng/L, 6.03%(128/2 122 cases) and 16.59%(352/2 122 cases), respectively.There were significant differences in the serum level of 25-(OH)D, 25-(OH)D deficiency rate and 25-(OH)D insufficient rate in children with different ages and seasons (all P<0.05). The mean serum Vit E level, Vit E deficiency rate and Vit E insufficient rate were (7.81±1.74) mg/L, 2.78%(59/2 122 cases) and 29.59%(628/2 122 cases), respectively.There were significant differences in serum Vit E level, Vit E deficiency rate and Vit E insufficient rate in children with different ages and seasons (all P<0.05). The mean serum levels of Vit A and Vit D remained the lowest before the age of 1 year, and their deficiencies at this age were the most significant.The mean serum level of Vit E remained the lowest in >1-2 years old, and its deficiency and insufficient at this age were the most significant.Vit A, D and E levels were significantly affected by seasonal changes, which were significantly higher in the summer than in the spring, autumn and winter.In addition, Vit A and 25-(OH)D were significantly affected by the altitude, which were the lowest above 4 km altitude. Conclusions:The overall serum levels of Vit A, 25-(OH) D and E in children with 0-6 years old in Tibetan Plateau areas of Ganzi Prefecture are lower than those in plain areas.Vit A, 25-(OH) D and Vit E levels significantly differed in the age, season and altitude, which are related to the lack of local resources, insufficient maternal nutrition during pregnancy and insufficient intake after birth, as well as temperature and light caused by changes in local seasons and altitude.Therefore, it is necessary to make reasonable supplements during pregnancy to prevent vitamin deficiency.