OBJECTIVE: To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods. METHODS: Four patients presented at Northwest Women's and Children's Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022). RESULTS: The chromosomal karyotypes of the patients were mos 46,XX,fra(16)(q22)[26]/47,XX,del(16)(q22),+chrb(16)(q22)[4]/46,XX,del(16)(q22)[3]/46,XX[91], mos 46,XY,fra(16)(q22)[21]/46,XY,del(16)(q22)[3]/46,XY[76], mos 46,XX,fra(16)(q22)[21]/ 46,XX,del(16)(q22)[4]/46,XX[75] and mos 46,XX,fra(16)(q22)[16]/46,XX,del(16)(q22)[7]/47,XX,del(16)(q22),+chrb(16)(q22)[6]/47,XX,fra(16)(q22),+chrb(16)(q22)[3]/46,XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16. CONCLUSION Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
Humans ; Chromosome Fragile Sites/genetics* ; Chromosomes, Human, Pair 16/genetics* ; DNA Copy Number Variations/genetics* ; Karyotyping

Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

ObjectiveTo compare the retest reliability and discriminant validity of dynamic postural stability indices for functional ankle instability (FAI) obtained by different algorithms based on acceleration signals at different positions of human body. MethodsFrom April to June, 2021, 21 subjects with unilateral FAI and 21 subjects with normal ankle were recruited. Three inertial sensors were attached to the waist points, knee and ankle positions. The ground reaction force (GRF) and kinematics data of the subjects in multi-direction single leg landing test were collected synchronously by 3D force plate and inertial sensors. The unbounded third order polynomial (UTOP) fitting method was used to calculate the stability time, and the root mean square was used to caculate the stability index. ResultsMost of the indicators calculated based on acceleration signal correlated with that based on GRF with low coefficient (|r| = 0.116 to 0.368, P < 0.05). The stability time and stability index based on the acceleration signals of different positions of human body showed low to high retest reliability (CMC 0.30 to 0.91). For the females, among the stability time based on acceleration signal, eleven indexes achieved average to very high discriminant validity (AUC = 0.702 to 0.942, P < 0.05); eight of the stability indexes reached general level of discriminant validity (AUC = 0.717 to 0.782, P < 0.05). No algorithms achieved good discriminant effect in male subjects. ConclusionBased on the acceleration signal of waist point in single-leg landing stability test, the stability time calculated by UTOP algorithm can evaluate the dynamic postural stability of female FAI patients with high discriminant validity and medium to high retest reliability.

The standardized residency training has become a necessary way to improve the overall professional quality of doctors. At present, a single teaching model can't meet the needs of the standardized residency training. This study explores the application of problem-based learning (PBL) combined with multidisciplinary treatment (MDT) model in the general surgery teaching of standardized residency training, so that the residents can use their theoretical knowledge to think deeply about the problems in the cases. By consulting the literature review, the cases are analyzed from multiple levels and angles, such as pathogenic causes, pathogenesis and clinical manifestations, then the clinic diagnosis and therapeutic schedule can be obtained. This kind of teaching model not only stimulates the group's more interest in learning, and improves the ability of autonomous learning, independent analysis, problem solving and language expression, but also significantly improves teaching satisfaction and has obvious teaching advantages.

OBJECTIVE:To establish HPLC fmgerprints of Stephania kwangsiensis.METHODS:HPLC method was adopted.The determination was performed on Hypersil ODS2 with mobile phase consisted of acetonitrile-0.5％ phosphoric acid (gradient elution) at the flow rate of 1.0 mL/min.The detection wavelength was set at 282 nm,and column temperature was 30 ℃.The sample size was 10 μL.Using tetrahydropalmatine as reference,HPLC fingerprints of 10 batches of medicinal materials were determined.Common peak identification and similarity evaluation were conducted by using Similarity Evaluation System of TCM Chromatographic Fingerprint (2012 edition).RESULTS:A total of 17 common peaks were identified in HPLC fingerprints of 10 batches of S.kwangsiensis.Among 10 batches of samples,fingerprint of samples from 8 producing areas were compared with control chromatogram.The similarity was higher than 0.900.The similaritg of samples from 2 producing areas were lower than 0.900.CONCLUSIONS:Established HPLC fingerprint can provide reference for the identification and quality evaluation of S.kwangsiensis;S.kwangsiensis in Guangxi from most producing areas include similar alkaloid components,but samples from other producing areas are different from them.

Objective To establish a HPLC method for determination of naringenin and apigenin in Premna fulva. Methods The SHISEIDO￣SPOLAR C18(250 mm×4.6 mm,5μm) was used as analytical column.The mobile phase consisted of methanol￣0.2% phosphoric acid (42:58) with isocratic elution at a flow rate of 1.0 mL.min-1 .The detection wavelength of naringenin and apigenin was 288 nm and 340 nm, respectively.Column temperature was set at 35 ℃ , the injection Volume was 10 μL. Results Naringenin and apigenin had a good linear relationship in the concentration range of 0.180 ~ 3.60 μg (r =0.999 9) and 0. 0052 ~ 0. 1040 μg ( r = 0. 999 9), respectively. Conclusion The method is accurate and reliable. It is appropriate for the quantitative determination of naringenin and apigenin in Premna fulva and its preparations.

Objective To investigate the effects of Sini decoction on function of hypothalamic-pituitary-adrenal axis in patients with sepsis.Methods A prospective single-blind randomized controlled trial was conducted.60 septic patients were divided into three groups with the method of random number table,20 cases in the control group,20 in the Chinese herb group,and 20 in corticoid group.All of them received routine treatment.Patients in Chinese herb group were given Sini decoction in addition (decoction of monkshood 15 g,dried ginger 15 g,honey-fried licorice 10 g) 100 mL/d orally or by nasal feeding,while patients in corticoid group were given hydrocortisone 200 mg/d intravenously instead,both for 7 days.Before the treatment,3 days and 14 days after treatment,blood was collected to determine the levels of adrenocorticotropic hormone (ACTH) and cortisol,and the result of ACTH stimulating test was observed.At the same time,acute physiology and chronic health evaluation Ⅱ (APACHE Ⅱ) score was recorded,and 3-day shock recovery rate and 28-day death rate were also compared among these groups.Results None of the three groups showed different result in ACTH stimulating test (x2=1.101,P=0.605).ACTH in three groups was gradually decreased.Compared with that before treatment,ACTH in Chinese herb group and corticoid groups began to decrease obviously on day 3 (ng/L:29.90 ± 3.31 vs.33.10 ±.3.31,28.20 ±.2.45 vs.33.30 ± 3.84,both P＜0.01),while in control group declined ACTH appeared later (on day 14) compared with before treatment (ng/L:29.40 ±5.63 vs.33.50 ±4.89,P＜0.05).No obvious difference in ACTH level was showed between the Chinese herb group and the cortical group (both P＞0.05).Cortisol level in both Chinese herb and cortical groups showed a raise-fall biphase trend while there was no change in the control.The cortical levels on day 3 in Chinese herb and cortical groups were much higher than that before treatment (μg/L:343.04 ± 31.20 vs.294.70 ±42.10,331.25 ±42.80 vs.280.36 ± 38.10,both P＜0.01) and that of control group (μg/L:291.61 ± 41.50,both P＜0.01),though no significant statistical difference was observed between two groups (both P＞0.05).APACHE Ⅱ score on day 14 in control,Chinese herb and cortical groups was significantly lower than that before treatment (16.8 ± 5.1 vs.20.1 ± 4.3,13.4 ± 3.2 vs.18.3 ± 3.8,15.1 ± 2.5 vs.19.5 ± 4.0,all P＜0.01),and the score was much lower in Chinese herb group comparing with that of control group (P＜0.05).No statistical difference was observed among control,Chinese herb and cortical groups in lowering 28-day death rate [35.0％ (7/20),25.0％ (5/20),20.0％ (4/20)] and improving 3-day shock recovery rate [40.0％ (8/20),70.0％ (14/20),60.0％ (12/20),all P＞0.05].Conclusions Sini decoction could elevate cortisol while lower ACTH at the early stage of sepsis.Sini decoction could also effectively improve symptoms and hypothalamic-pituitary-adrenal axis function in septic patients without affecting death rate.