Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.

Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.

Objective To prepare paclitaxel-natural borneol complex,and to explore the prescription and preparation process of paclitaxel-natural borneol complex drug-loaded submicroemulsion,and its in vitro anti-tumor effect.Methods The Paclitaxel-natural borneol complex was prepared by grinding method and identified by Fourier Transform infrared spectroscopy(FT-IR)and differential scanning calorimetry(DSC).The compound drug-loaded submicroemulsion was prepared using a two-step high-pressure emulsification method.The single-factor investigation and the orthogonal experimental design were applied to optimize the formulation and preparation process.MTT assay,cell cloning assay,and cell scratch assay were used to evaluate the effect of this preparation on HCT-116 cells.Results The infrared spectral absorption peaks of taxol-natural borneol complex at 3 312.76 cm-1 and 3 513.92 cm-1 disappeared,and DSC analysis showed that a new absorption peak of taxol-natural borneol complex appeared at 154.56 ℃,indicating that taxol be coupled with natural borneol to form a new complex.The optimal prescription was 0.44％active pharmaceutical ingredient[paclitaxel-natural borneol(1∶3)],10％medium chain triglyceride,3％emulsifier[egg yolk lecithin-Poloxam 188(1∶2)],2％glycerol,0.3％oleate.The optimal process was emulsification at 80 ℃,60 MPa high pressure homogenization 10 times.The half inhibitory concentration(IC50)was 0.75 μg·mL-1 by MTT asssy in cell.In the cell cloning assay,the scratch healing area of blank control group,paclitaxel raw material and paclitaxel/natural borneol submicroemulsion were(36.44±3.35)％,(13.59±9.28)％,(8.30±4.09)％,respectively.The results were statistically significant(P＜0.05).In the plate cloning experiment,the cell cloning rates of blank control group,paclitaxel bulk drug group and submicroemulsion group were(37.92±0.729)％,(9.16±1.335)％and(3.36±1.065)％,respectively,the differents were statistically significant(P＜0.05).Conclusion This submicroemulsion has reasonable prescription,feasible process and good stability.Cell experiments showed that the submicronemulision effectively inhibits the proliferation and migration of HCT-116 cells,suggesting its potential as a promising antitumor agent.

Objective:To evaluate the preliminary effectiveness and safety of surgical peripheral iridectomy (SPI) combined with goniosynechilysis (GSL) and goniotomy (GT) in the treatment of advanced primary angle-closure glaucoma (PACG).Methods:A multicenter observational case series study was performed.Thirty-five eyes of 27 patients with advanced PACG, who underwent SPI+ GSL+ GT with a follow-up of at least 6 months, were included from August 2021 to January 2022 at Zhongshan Ophthalmic Center, Handan City Eye Hospital, Shijiazhuang People's Hospital, West China Hospital of Sichuan University, and the Third Affiliated Hospital of Chongqing Medical University.The mean follow-up time was 9(7, 10) months.Pre- and post-operative best corrected visual acuity (BCVA) and intraocular pressure (IOP) were measured with an ETDRS chart and a Goldmann applanation tonometer, respectively.The number of anti-glaucoma medications applied before and after surgery was recorded, and the complications after surgery were analyzed.Success rate of surgery was calculated.Complete surgical success was defined as an IOP of 5-18 mmHg (1 mmHg=0.133 kPa) and 20% reduction from baseline without anti-glaucoma medication or reoperation.Qualified success was defined as achieving criterion of complete success under anti-glaucoma medications.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Zhongshan Ophthalmic Center, Sun Yat-sen University (No.2021KYPJ177). Written informed consent was obtained from each subject.Results:The mean preoperative IOP was (30.83±8.87)mmHg, which was significantly decreased to (15.69±3.70)mmHg at 6 months after the surgery ( t=8.588, P<0.001), with a 44.00% (34.78%, 60.00%) decline of 13.00(8.00, 21.00)mmHg.The median number of anti-glaucoma medications was significantly reduced from 2(0, 3) preoperatively to 0 (0, 1) postoperatively ( Z=-3.659, P<0.001). The mean preoperative and postoperative 6-month BCVA were 0.80(0.63, 1.00) and 0.80(0.60, 1.00), respectively, showing no significant difference ( Z=-0.283, P=0.777). Complete surgical success rate was 62.86%(22/35), and the qualified success rate was 91.43%(32/35). Surgical complications mainly included hyphema (6/35), IOP spike (3/35), and shallow anterior chamber (4/35). There was no vision-threatening complication. Conclusions:SPI+ GSL+ GT is preliminarily effective and safe in the treatment of advanced PACG, which provides a new option for PACG.

OBJECTIVE: To observe the therapeutic effect of tetramethylpyrazine on immune-mediated bone marrow failure (BMF) induced by different doses of X-ray exposure in C57 mice. METHODS: C57BL6 mice were randomized into 4 groups, including a blank control group and 3 X-ray exposure groups with X-ray exposure at low (5.0 Gy), moderate (5.75 Gy), and high (6.5 Gy) doses. After total body irradiation with 0.98 Gy/min X-ray. The mice as recipient received injections of 4×10 lymphocytes from DBA/2 mice via the tail vein within 4 h. The survival rate of the recipient mice, peripheral blood cell counts, bone marrow nucleated cell count, and bone marrow pathology were examined at 14 days after the exposure. In the subsequent experiment, C57 mice were exposed to 5.0 Gy X-ray and treated with intraperitoneal injection of tetramethylpyrazine at the low (5 mg/mL), moderate (10 mg/mL), or high (20 mg/mL) doses (12 mice in each group) for 14 consecutive days, and the changes in BMF were observed. RESULTS: X-ray exposure, especially at the high dose, resulted in significantly lowered survival rate in the mouse models of BMF at 14 days. As the X-ray dose increased, the mice showed significantly reduced peripheral blood counts of red blood cells, white blood cells, platelets and lowered bone marrow nucleated cell counts with obvious bone marrow congestion and reduction of nucleated cells ( < 0.05 or 0.001). In the mice exposed to 5.0 Gy X-ray, tetramethylpyrazine at the high dose most obviously increased bone marrow nucleated cells ( < 0.01) and red blood cells ( < 0.001), and even at the low dose, tetramethylpyrazine significantly increased the counts of white blood cells ( < 0.05) and platelets ( < 0.01) following the exposure. Tetramethylpyrazine dose-dependently alleviated bone marrow hyperemia, increased bone marrow nucleated cell counts, and lowered Fas protein expression in the bone marrow. CONCLUSIONS X-ray irradiation at 5.0 Gy is suitable for establish mouse models of immune-mediated BMF. Tetramethylpyrazine promotes bone marrow repair by regulating Fas cell apoptosis signals, which further expands the traditional Chinese medicine theory of "removing blood stasis to create new."
Animals ; Bone Marrow ; Mice ; Mice, Inbred C57BL ; Mice, Inbred DBA ; Pyrazines ; Whole-Body Irradiation

Objective To explore the clinical and laboratory characteristics of chronic B lymphocyte proliferation disease (B-CLPD) without typical lymphoid proliferation. Methods The clinical records of patients with B-CLPD only characterized by pancytopenia form January 2007 to March 2016 in hematology department of Xinjiang Uygur Autonomous Region People ' s Hospital were collected, and the cell morphology, bone marrow pathology, cytogenetics and molecular characteristics were retrospectively analyzed. Results The median age of 11 patients was 68 years old. The lymphocyte ratio of peripheral blood smears in all patients increased in different level (0.36-0.68), but absolute lymphocyte count was normal or decreased (0.59×109-1.99×109). Lymphocyte-like plasma cell or small numbers of plasma cell can be seen in the bone marrow smears of 4 cases and lymphocytes with irregular burr-like protrusions were observed in 2 cases while there were no characteristic morphological changes in remained 5 cases. Immunophenotypical analysis showed that all patients expressed CD19, CD20, CD22, SmIg, not expressed CD5, CD10 which with scores of 0-2 according to chronic lymphocytic leukemia (CLL) points system;CD103, CD11C, CD25 and FMC7 were highly expressed in 2 cases while there were no characteristic expression in remaining cases. There were no abnormal karyotypes observed from the conventional cytogenetic and fluorescence in situ hybridization (FISH) analysis (both of IgH/CCND1, bcl-2/IgH were negative) in all patients. 8 patients were found IgH gene rearrangement, MYD88L256P and BRAF V600E was positive in 5 cases and 2 cases respectively. 5 cases were diagnosed as Waldenstrom macroglobulinemia, 3 cases were B-CLPD, 2 cases were hairy cell leukemia, 1 case was nodal marginal zone B-cell lymphoma after comprehensive analysis of their clinical and laboratory data. Conclusion Even if there are no increased peripheral blood lymphocytes in pancytopenia patients, it is necessary to perform bone marrow smears, immunophenotyping, IgH gene rearrangement, cytogenetics and other molecular laboratory tests to exclude B-CLPD, and reduce misdiagnosis.

Objective To seek for the differentially-expressed proteins in patients with kidney-yin deficiency syndrome and to screen out the specific proteins,so as to provide evidence for the establishment of objective standard of kidney deficiency syndrome of traditional Chinese medicine (TCM).Methods Five patients with typical kidney-yin deficiency syndrome and 6 normal healthy volunteers were enrolled into the study.Plasma proteins in both groups were detected by antibody chip,and then the plasma proteins profile was compared and analyzed.Results A total of 25 differentially-expressed proteins between kidney-yin deficiency group and normal control group were found,of which 2 were up-regulated and 23 were down-regulated.Conclusion The differentially-expressed proteins in patients with kidney-yin deficiency syndrome are mainly related to immune disorder,protein biosynthesis,metabolism,oxidative stress,cell apoptosis,signal transduction,and so on.

Objective: To establish a fast quantitative detection method for tartrazine, sunset yellow, orange Ⅱ sodium salt and allura red in safflower by solid phase extraction-electrospray ionization-high performance ion mobility spectrometry (SPE-ESI-HPIMS).Methods: The pigments were extracted by 70% ethanol with ultrasonic treatment, and then a polyamide SPE column was used to remove the complex matrix interference in safflower.The purified sample was then dissolved in 90% methanol and analyzed under the optimized IMS parameters.Results: The detection time of all the pigments was less than 20 ms.The limit of detection of tartrazine, sunset yellow, orange Ⅱ sodium salt and allura red was 0.17 , 0.15 , 0.30 and 0.25 μg·ml-1 , respectively.All the pigments showed excellent linearity within the range of 0.5-20 μg·ml-1 (r＞0.990 0), the method recovery was 88.0%-98.9% , and the RSD was 1.5%-5.2% (n =6).Conclusion: The method is rapid, simple, highly sensitive and reproducible, and suitable for the rapid quantitative detection of illegal added staining substances in safflower.

Objective To observe the clinical efficacy of yang-supplementing fire moxibustion in treating chronic obstructive pulmonary disease (COPD) in stable stage. Method Totally 120 COPD patients of yang deficiency type in stable stage were divided into 3 groups by the random number table, a yang-supplementing fire moxibustion group (yang-supplementing group), a dry mild moxibustion group (mild moxibustion group), and a regular Western medication group (regular group), 40 cases in each group, and 30-day treatment was taken as a course. They were treated and observed for a course, followed by a 3-month follow-up study. The pulmonary function indexes, yang-deficiency signs, quality of life, and comprehensive therapeutic efficacy were observed in the three groups. Result After treatment, the pulmonary function indexes, yang deficiency signs, quality of life, and comprehensive therapeutic efficacy were significantly improved in the three groups (P<0.01); the percent of predicted forced expiratory volume in one second (FEV1%) and yang deficiency signs were significantly improved after intervention in the mild moxibustion group (P<0.05); meanwhile, the quality of life was also significantly improved after intervention in the mild moxibustion group and regular group (P<0.01); the therapeutic efficacy of the yang-supplementing group was better than that of the mild moxibustion group and regular group, and the efficacy of the mild moxibustion group was better than that of the regular group. Conclusion Yang-supplementing fire moxibustion can improve the pulmonary function, postpone the progressive decrease of pulmonary function, significantly improve the yang deficiency constitution, enhance the quality of life and comprehensive therapeutic efficacy in treating yang-deficient COPD patients in stable stage.

OBJECTIVETo explore the relationship between plasma microRNA126 (miR-126) level and coronary collateral circulation (CCC) formation and to determine whether the miR-126 in plasma could serve as a blood-based biomarker for CCC in patients with severely narrowed coronary arteries (CAD).

METHODSIn this prospective study, a total of 120 consecutive CAD patients with ≥ 95% stenosis in one epicardial coronary artery were enrolled. Thirty healthy people served as normal control. They were divided into two groups according to Rentrop grades: patients with grade 2 and 3 collateral development (good CCC group, n = 64) and patients with grade 0 and 1 collateral development (poor CCC group, n = 56). Plasma miR-126 was measured by RT-PCR and serum VEGF was evaluated by ELISA method.

RESULTSFasting plasma glucose (FPG) was significantly lower in patients with good CCC than in patients with poor CCC ((5.99 ± 1.48) mmol/L vs. (6.40 ± 2.50) mmol/L). Plasma miR-126 levels and VEGF levels were significantly lower in CAD patients than in healthy people (0.04 ± 0.01 vs. 0.07 ± 0.02, P = 0.023 and (2 110 ± 455) ng/L vs. (2 574 ± 450) ng/L, P = 0.011, respectively). miR-126 and VEGF levels were significantly higher in good CCC group than in poor CCC group (miR-126: 0.06 ± 0.02 vs. 0.03 ± 0.01, P = 0.021;VEGF:(2 549 ± 614) ng/L vs. (1 759 ± 452) ng/L, P = 0.008) . In CAD patients with good CCC, the miR-126 level was positively correlated to the VEGF expression (r = 0.712, P = 0.005) while there was no correlation between miR-126 level VEGF in CAD patients with poor CCC (r = 0.342, P = 0.483) . Multivariate analysis revealed that plasma miR-126 (OR = 2.145, 95% CI 1.691-2.988, P = 0.001) and VEGF (OR = 1.279, 95% CI 1.068-2.295, P = 0.013) were independent predictors of collateral formation in patients with severely narrowed coronary arteries. In CAD patients, the area under the miR-126 ROC curve is 0.951 (P = 0.002).

CONCLUSIONPlasma miR-126 level is positively correlated to the CCC formation and is an independent predictor of CCC development in patients with severely narrowed coronary arteries, suggesting that plasma miR-126 might be a useful new, stable blood biomarker for predicting CCC formation in patients with severely narrowed coronary arteries.

Biomarkers ; Collateral Circulation ; Coronary Angiography ; Coronary Artery Disease ; blood ; Coronary Circulation ; Coronary Disease ; Heart ; Humans ; MicroRNAs ; blood ; Multivariate Analysis ; Plasma ; Prospective Studies ; ROC Curve