Objective:To explore the prenatal ultrasound phenotype and genetic basis of two fetuses with Wolf-Hirschhorn syndrome (WHS).Methods:A retrospective analysis was conducted on the ultrasound imaging data of two fetuses suspected for WHS at the Prenatal Diagnostic Center of Qingyuan People′s Hospital in July 2017 and August 2019, respectively. Amniotic fluid samples of the two fetuses were subjected to chromosomal karyotyping and chromosomal microarray analysis (CMA). This study was approved by Medical Ethics Committee of the Qingyuan People′s Hospital (Ethics No. IRB-2022-064).Results:Prenatal ultrasound examination of the two fetuses had consistently revealed WHS-associated traits including intrauterine growth restriction (IUGR), craniofacial abnormalities and cardiovascular anomalies. Karyotyping analysis suggested that both fetuses had harbored cryptic chromosomal translocations involving partial deletion of 4p. And parental verification revealed that it was de novo for fetus 1 and paternal for fetus 2. CMA has confirmed that fetus 1 had an approximately 8.7 Mb deletion at 4p16.3p16.1 and a 6.8 Mb duplication at 8p23.1p23.1, whilst fetus 2 had a 20.05 Mb deletion at 4p16.3p15.31 and a 7.66 Mb duplication at 9p24.3p24.1. The karyotype of fetus 1 was determined as 46, XN, der(4)t(4; 8)(p16.1; p23.1)dn.arr[hg19]4p16.3p16.1(68345_8721580)×1, 8p23.3p23.1(158048_6933745)×3, and that of fetus 2 was determined as 46, XN, der(4)t(4; 9)(p15.3; p24)dpat.arr[hg19]4p16.3p15.31(68345_20116061)×1, 9p24.3p24.1(208454_7868292)×3. Conclusion:The 4p deletion is probably the main cause for the WHS phenotype in both fetuses. WHS should be suspected when IUGR, renal anomalies, craniofacial and cardiovascular abnormalities are detected upon prenatal ultrasound screening.

Objective To observe the impact of age and menstrual status on semi-quantitative parameters of breast dynamic enhanced MRI(DCE-MRI)in healthy adult women.Methods A total of 283 adult females who underwent MR examinations due to suspected breast mass or breast discomfort but no breast tumor was detected after 1 year's clinical follow-up were retrospectively collected.Meanwhile,49 healthy adult female subjects in the menstrual period(menstruating subgroup)were prospectively recruited.All the above 332 subjects were divided into low age group(n=107),middle age group(n=114)and high age group(n=111)according to age,while into postmenopausal group(n=112)and premenopausal group(n=220,including 49 in menstruating subgroup,77 in proliferating subgroup and 94 in secreting subgroup).DCE-MRI semi-quantitative parameters,including maximum enhancement rate(ERmax)and maximum slope of increasing(Slopemax)were compared among different groups and subgroups,and the variations were observed.Results Significant differences of ERmax and Slopemax were found between high and low age groups(both P＜0.05),while no significant difference of ERmax and Slopemax was found between middle and low age group,nor between middle and high age group(all P＞0.05).Both ERmax and Slopemax in postmenopausal group were lower than those in premenopausal group(both P＜0.05),while no significant difference of DCE-MRI semi-quantitative parameters was found among different menstrual cycle subgroups(all P＞0.05).The coefficient of variance(CV)of normal breast ERmax in low,middle and high age groups was 56.20％,44.02％and 50.97％,respectively,of Slopemax was 54.74％,81.78％and 76.93％,respectively.CV of normal breast ERmax was 50.12％and 46.02％in postmenopausal and premenopausal groups,respectively,while CV of Slopemax was 72.84％and 62.04％,respectively.Among different subgroups,CV of ERmax and Slopemax in proliferative period were both the largest(61.39％,82.54％),which in menstrual period were both the smallest(33.99％,42.33％).Conclusion Semi-quantitative parameters of breast DCE-MRI were different among healthy women of different age and menstrual status,and the individual variations were large.

BACKGROUND: Tissue engineering is increasingly viewed as a promising avenue for functional cartilage reconstruction.However, chondrocyte dedifferentiation during in vitro culture remains an obstacle for clinical translation of tissue engineered cartilage. Re-differentiated induction have been employed to induce dedifferentiated chondrocytes back to their original phenotype. Regrettably, these strategies have been proven to be only moderately effective. METHODS: To explore underlying mechanism, RNA transcriptome sequencing was conducted on primary chondrocytes (P0), dedifferentiated chondrocytes (P5), and redifferentiated chondrocytes (redifferentiation-induction of P5, P5.R). Based on multiple bioinformatics analysis, LGR5 was identified as a target gene. Subsequently, stable cell lines with LGR5 knocking-down and overexpression were established using P0 chondrocytes. The phenotypic changes in P1 and P5 chondrocytes with either LGR5 knockdown or overexpression were assessed to ascertain the potential influence of LGR5 dysregulation on chondrocyte phenotypes. Regulatory mechanism was then investigated using bioinformatic analysis, protein–protein docking, immunofluorescence co-localization and immunoprecipitation. RESULTS: The current study found that dysregulation of LGR5 can significantly impact the dedifferentiated phenotypes of chondrocytes (P5). Upregulation of LGR5 appears to activate the PI3K/AKT signal via increasing the phosphorylation levels of AKT (p-AKT1). Moreover, the increase of p-AKT1 may stabilize b-catenin and enhance the intensity of Wnt/b-catenin signal, and help to restore the dedifferentated phenotype of chondrocytes. CONCLUSION LGR5 can modulate the phenotypes of chondrocytes in P5 passage through PI3K/AKT signaling pathway.

ObjectiveTo investigate the mechanism of Yiqi Huoxue Tongluo prescription （YHTP） in the treatment of diabetic neuropathic pain （DNP）. MethodNinety SPF-grade SD male rats were randomized into blank， model， low- （2.25 g·kg^-1）， medium- （4.5 g·kg^-1）， and high-dose （9 g·kg^-1） YHTP， and mecobalamin （0.175 mg·kg^-1） groups. Except those in the blank group， the rats in the remaining 5 groups were fed with a high-fat and high-glucose diet and subjected to intraperitoneal injection of low-dose （35 mg·kg^-1） streptozotocin （STZ） to establish the model of DNP. The sciatic nerve conduction velocity in DNP rats was measured by the neurophysiological method， and the levels of interleukin-6 （IL-6）， IL-1β， and tumor necrosis factor-α （TNF-α） were measured by enzyme-linked immunosorbent assay （ELISA）. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） was employed to measure the mRNA levels of glial fibrillary acidic protein （GFAP） and extracellular signal-regulated kinase （ERK） in the spinal cord. Western blot was employed to measure the protein levels of GFAP and phosphorylated ERK （p-ERK）， and immunofluorescence staining to measure the fluorescence intensity of GFAP and p-ERK in the spinal cord. In the cell experiments， 100 mmol·L^-1 high glucose was used to induce the activation of astrocytes （CTX-TNA2） for the modeling of nerve cell injury. The cells were randomized into the normal， model， drug-containing serum （10% YQHT）， inhibitor ［10 mol·L^-1 corynoxeine （COR）］， drug-containing serum + inhibitor （10% YHTP + 10 mol·L^-1 COR） groups. The levels of pro-inflammatory factors （TNF-α and IL-1β） and the anti-inflammatory factor IL-10 in CTX-TNA2 cells were determined by ELISA， and the protein levels of GFAP and p-ERK in CTX-TNA2 cells by Western blot. ResultThe animal experiments showed that compared with the blank group， the model group presented reduced mechanical withdrawal threshold （MWT）， thermal work limit （TWL）， and nerve conduction velocity， elevated levels of fasting blood glucose， IL-1β， TNF-α， and IL-6， and up-regulated protein levels of GFAP and p-ERK， and mRNA levels of ERK1， ERK2， GFAP （P<0.01）. Compared with model group， YHTP increased the MWT， TWL， and sciatic nerve conduction velocity （P<0.01）， lowered the levels of IL-1β， TNF-α， and IL-6 （P<0.01）， and down-regulated the protein levels of GFAP and p-ERK， and mRNA levels of ERK1， ERK2， GFAP in the spinal cord （P<0.05， P<0.01）. The cell experiments showed that compared with the blank group， the model group had decreased survival rate， elevated levels of pro-inflammatory factors， and up-regulated protein levels of ERK and GFAP （P<0.01）. Compared with the model group， the YHTP-containing serum lowered the levels of IL-1β and TNF-α （P<0.05， P<0.01）， elevated the level of IL-10 （P<0.01）， and down-regulated the protein levels of ERK and GFAP （P<0.01）. ConclusionYHTP may inhibit the activation of astrocytes by inhibiting the ERK signaling pathway to reduce inflammation and thus relieve DNP.

The central nervous system is susceptible to the modulation of various neurophysiological processes by the cytochrome P450 enzyme(CYP),which plays a crucial role in the metabolism of neurosteroids.The antiepileptic drug phenytoin(PHT)has been observed to induce neuronal side effects in patients,which could be attributed to its induction of CYP expression and testosterone(TES)metabolism in the hip-pocampus.While pregnane X receptor(PXR)is widely known for its regulatory function of CYPs in the liver,we have discovered that the treatment of mice with pregnenolone 16α-carbonitrile(PCN),a PXR agonist,has differential effects on CYP expression in the liver and hippocampus.Specifically,the PCN treatment resulted in the induction of cytochrome P450,family 3,subfamily a,polypeptide 11(CYP3A11),and CYP2B10 expression in the liver,while suppressing their expression in the hippocampus.Func-tionally,the PCN treatment protected mice from PHT-induced hippocampal nerve injury,which was accompanied by the inhibition of TES metabolism in the hippocampus.Mechanistically,we found that the inhibition of hippocampal CYP expression and attenuation of PHT-induced neurotoxicity by PCN were glucocorticoid receptor dependent,rather than PXR independent,as demonstrated by genetic and pharmacological models.In conclusion,our study provides evidence that PCN can negatively regulate hippocampal CYP expression and attenuate PHT-induced hippocampal neurotoxicity independently of PXR.Our findings suggest that glucocorticoids may be a potential therapeutic strategy for managing the neuronal side effects of PHT.

Objective:To investigate the English learning efficacy and autonomous learning proficiency of postgraduates in universities of Traditional Chinese Medicine (TCM), explore whether there is a correlation between English learning efficacy and autonomous learning ability, and to analyze the influence of English learning efficacy on autonomous learning ability.Methods:A questionnaire survey was carried out to assess the levels of English learning efficacy and English autonomous learning in two levels of belief and behavior among 207 postgraduates in TCM universities. Statistical methods such as independent sample t-test, one-way ANOVA, nonparametric Mann-Whitney U-test, and Kruskal Wallis H-test were applied to analyze the data collected in the questionnaire survey. Results:The average score of subjects' English learning efficacy was 2.82 ± 0.60 (1 ≤ ≤ 5), and the average score of subjects' English autonomous learning ability was 3.24 ± 0.53 (1 ≤ ≤ 5). The scores of their autonomous English learning in the level of belief was significantly higher than those of the level of behavior ( t =14.10, P < 0.001). The scores of autonomous learning ability of subjects in Batch 2020 were significantly lower than those in Batch 2021 ( t = 2.64, P = 0.009). Linear correlation analysis showed that there was a moderately positive correlation between English learning efficacy and autonomous learning ability. Conclusion:The English learning efficacy of postgraduates in TCM universities is at the middle-low level and their English autonomous learning ability is at the middle level. Moreover, their English autonomous learning in the level of behavior underperforms the English autonomous learning in the level of belief, and the English autonomous learning ability decreases with the increase of the grades. In addition, the English learning efficacy has a moderate positive influence on autonomous English learning ability.

Objective:To explore the application effect of a structured education program in children with asthma and their parents.Methods:Using the convenient sampling method, a total of 102 asthmatic children and their parents who were treated in the outpatient department in the First Affiliated Hospital of Xinxiang Medical University from June 2020 to December 2020 were selected as the control group, and the conventional asthma education program was used for intervention. A total of 102 asthmatic children and their parents who were treated in the outpatient department of the First Affiliated Hospital of Xinxiang Medical University from January to June 2021 were selected as the observation group, and a structured education program was used for intervention. Before the intervention and 6 months after the intervention, the asthma control effect, quality of life and the family self-management ability of patients in the two groups were evaluated by using Children's Asthma Control Test Scale, Asthma Children's Quality of Life Scale and Family Self-Management Scale.Results:After intervention, the overall control rate of asthma in the observation group was 97.06% (99/102) , which was higher than 85.29% (87/102) in the control group, and the difference was statistically significant ( P<0.05) . After the intervention, the scores and total scores of each dimension of Asthma Children's Quality of Life Scale and the scores and total scores of each dimension of Family Self-Management Scale of the observation group were higher than those of the control group, and the differences were statistically significant ( P<0.05) . Conclusions:The application of structured education program in children with asthma and their parents can improve the effect of asthma control, improve quality of life and family self-management ability of children, which is worthy of clinical promotion and application.

OBJECTIVE: To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization. METHODS: Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples. RESULTS: In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation. CONCLUSION Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.
China ; DNA Mutational Analysis ; Female ; Genetic Testing ; Genotype ; Glucosephosphate Dehydrogenase ; genetics ; Glucosephosphate Dehydrogenase Deficiency ; diagnosis ; Humans ; Male ; Mutation

Objective To explore the effects of comprehensive nursing intervention on fiber gastroscopy for senile patients.Methods Totally 100 senile patients who received fiber gastroscopy in the Department of Gastroenterology of the First Affiliated Hospital of Nanjing Medical University from September 2014 to October 2015 were selected by convenient sampling, and randomly and equally divided into an observation group and a control group. Patients in the control group received routine nursing, while patients in the observation group received comprehensive nursing intervention on the basis of routine nursing. The blood pressure, heart rate and coordination during fiber gastroscopy were compared between the patients in the two groups before and after fiber gastroscopy; and the Self-Anxiety Scale (SAS) and Self-Depression Scale (SDS) were used to rate the emotion of the patients after hospitalization and before fiber gastroscopy.Results The differences in heart rate, systolic pressure and diastolic pressure before and after fiber gastroscopy in the patients in the observation group were smaller than that of the patients in the control group (t=43.732, 42.744, 61.492;P<0.01). Totally 45 patients in the observation group could keep quiet during fiber gastroscopy, higher than the number in the control group (χ2=17.533,P<0.01); 5 patients in the observation group showed fear during fiber gastroscopy, lower than the number in the control group (χ2=17.533,P<0.01); and the number of patients in the observation group who showed nausea, vomiting and cough was lower than that in the control group (P<0.01). The SDS and SAS scores of the patients in the observation group before fiber gastroscopy were (41.14±2.14) and (41.12±3.47), both lower than those of the patients in the control group (t=13.471, 8.843;P<0.01).Conclusions Comprehensive nursing intervention for senile patients can eliminate the fear, improve the adaptability, and mitigate the psychological and physical stress reaction in the patients.

A method of ultra performance liquid chromatography-quadrupole-time of flight-mass spectrometry ( UPLC-Q-TOF MS) was developed to determine 35 kinds of illegally added chemical fungicides in pesticide formulations. The samples were pretreated based on the ultrasonic extraction by the solvent of methanol, and then separated on a Zorbax C18(100 mm×1. 8 mm, 2. 1 μm) column by a gradient elution with 0. 1% formic acid aqueous solution and acetonitrile as the mobile phase. The mass spectrometer was operated under positive mode. Under the optimal conditions, the recoveries at three spiked levels (0. 2, 0. 4, and 2. 0 mg/kg) were in the range of 81. 0%-101. 3% and the RSDs were 1. 0%-4. 4%. Based on the developed method, 100 samples were analyzed, and among which 6 samples were screened out chemical fungicides. The proposed method was high-efficient, accurate and reliable for the qualitatively screening of illegaly added chemical fungicides.