Objective:To determine the potency of epidural ropivacaine in inhibiting breakthrough pain in primiparae undergoing labor analgesia with programmed intermittent epidural bolus (PIEB).Methods:American Society of Anesthesiologists Physical Status classification Ⅰ or Ⅱ primiparae of full-termpregnancy, with a singleton fetus in vertex presentation, aged ≥18 yr, with body mass index < 30 kg/m 2, presenting with breakthrough pain during labor analgesia with PIEB, were enrolled in this study. Ropivacaine 10 ml was epidurally administered, and the concentration was determined by up-and-down sequential allocation. The initial concentration was set at 0.15% in the first patient in each group. Each time the concentration increased/decreased in the next patient depending on whether the patients showed breakthrough pain relief, and the ratio between the two successive doses was 0.9. The criterion of breakthrough pain relief was defined as numerical rating scale score < 4 points within 30 min after epidural injection of ropivacaine. The median effective concentration (EC 50) and 95% confidence interval of ropivacaine in inhibiting breakthrough pain were calculated by Dixon-Massey′s method. Results:Twenty-six patients were finally included in this study.The EC 50 (95% confidence interval)of ropivacaine in inhibiting breakthrough pain was 0.102% (0.088%-0.117%). Conclusions:The EC 50(95% confidence interval) of epidurally administered ropivacaine 10 ml is 0.102%(0.088%-0.117%) when used for inhibiting breakthrough pain during labor analgesia with PIEB in primiparae.

【Objective】 To explore the effect of recovery autologous blood transfusion combined with bilateral internal iliac artery presetting in high-risk patients with hemorrhage during cesarean section. 【Methods】 A total of 162 high-risk patients with hemorrhage who underwent cesarean section from January 2021 to May 2023 in our hospital were prospectively selected and divided into in Groups A, B, and C with 54 cases in each group according to the indications for the method of transfusion. Group A received allogeneic blood transfusion, Group B received autologous blood transfusion, Group C received autologous blood transfusion combined with bilateral internal iliac artery balloon presetting. 【Results】 Intraoperative blood loss (mL) (1 600 vs 1 500 vs 800), postoperative hospital stay(d) (7 vs 7 vs 6) and operative time(min) (107 vs 104.50 vs 77) in group C were all lower than those in group A and B (P<0.05), with no difference between group A and B (P>0.05); The autologous blood transfusion volume(mL) in group C was lower than that in group B (525.5 vs 261, P<0.05). The proportion of allogeneic erythrocytes in group C was lower than that in group A (22.22% vs 100.00%, P<0.016 7). The proportion of plasma in group C was lower than that in groups A and B (18.50% vs 66.70%/18.50% vs 44.40%, P<0.016 7). The incidence of coagulating dysfunction in group C was lower than that in group A (7.41% vs 25.93%, P<0.016 7). The incidence of hysterectomy in group C was lower than that in group A (1.85% vs 16.67%, P<0.016 7), and there was no difference between group A and B (16.67% vs 11.11%, P>0.016 7). 【Conclusion】 Recovery autologous blood transfusion combined with bilateral internal iliac artery balloon presetting in cesarean section for high-risk patients with hemorrhage achieved ideal effects, which can significantly reduce intraoperative blood loss, intraoperative autologous blood transfusion, allogeneic red blood cells and plasma transfusion, as well as the operation time and postoperative hospital stay. In addition, it can improve the coagulation function and hysterectomy, which is conducive to ensuring the safety of maternal and promoting early rehabilitation, and preserving the fertility of patients to a certain extent, which is worthy of further clinical promotion.

OBJECTIVETo identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members.

METHODSTotal RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing.

RESULTSDNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H).

CONCLUSIONA prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.

Androgen-Insensitivity Syndrome ; genetics ; Base Sequence ; Child ; DNA Mutational Analysis ; methods ; Family Health ; Female ; Humans ; Male ; Mutation, Missense ; Pedigree ; Receptors, Androgen ; genetics ; Reverse Transcriptase Polymerase Chain Reaction ; methods

OBJECTIVETo analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype.

METHODSThe SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array).

RESULTSG-banding analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810.

CONCLUSIONThe duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup(15) case with a BP3:BP3 rearrangement.

Adult ; Chromosome Banding ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 15 ; genetics ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping

OBJECTIVETo explore the source of small supernumerary marker chromosome in a case.

METHODSG-banded karyotyping, fluorescence in situ hybridization, multiple sequence tagged sites (STS) of the Y chromosome, and Illumima Human Cyto SNP-12 Beadchip analysis were carried out.

RESULTSThe karyotype was mos 46,X,+mar1[21]/46,X,+mar2[78]. Y chromosome STS analysis has displayed the presence of sy84, sY86, USP9Y and DDX3Y genes from the AZFa region, and sY1227 of the AZFb region, while sY1228, sY1015, sY127, sY134 from the AZFb region, and sY254 and sY255 from the AZFc region were missing. FISH analysis has verified both of the marker chromosomes to be Y chromosome fragments. Mar1 was ish.idic(Y)(q11.2)(SRY++,DXZ1+,DYZ3++,DYZ1-), while mar2 was ish.del(Y)(q11.2)(SRY+,DXZ1+,DYZ3+,DYZ1-). Single nucleotide polymorphism (SNP) microarray analysis showed that the Yq11.2-Yq12 has lost a 10.81 Mb fragment.

CONCLUSIONThe marker chromosomes were verified to be aberrant Y chromosomes, with the breakage and recombination occurring in Yq11.2. Mar 1 was an isodicentric Y chromosome (idic(Y)pter to q11.2::q11.2 to pter), and mar2 was del(Y)(q11.2). The karyotype was mos 46,X,ish idic(Y)(q11.2)(DYZ3++,SRY++,DXZ1+,DYZ1-)[21]/46,X,ish del(Y)(q11.2)(DYZ3+,SRY+,DXZ1+,DYZ1-)[78]. Combined FISH, Y chromosome STS analysis, SNP microarray analysis and other technologies can facilitate determination of the nature of marker chromosomes.

Adult ; Chromosomes, Human, Y ; genetics ; Cytogenetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymorphism, Single Nucleotide ; Sex Chromosome Aberrations ; Sex Chromosome Disorders ; genetics

Objective To study the correlation between the diffusion-weighted imaging (DWI) measurements and glomerular filtration rate (GFR), Katafuchi scores in IgA nephropathy. Methods Thirty-five patients with IgA nephropathy (IgAN group) and twenty healthy volunteers (control group) were enrolled in this study. All of the subjects underwent bilateral renal DWI measurements with 3.0T MRI scanner. The values of apparent diffusion coefficient (ADC) of renal cortex and medulla were measured. GFR of IgAN group was detected with 99Tcm-DTPA scintigraphy. Based on the Lee classification and the Katafuchi score system, the pathological grading was carried out in patients of IgAN group. The ADC values were compared between control group and different grades of IgAN group. The correlations between ADC and GFR values were analysed in defferent groups. The correlations between ADC values and Katafuchi scores were analysed in IgAN group. Results The renal cortical ADC values were significantly higher than medulla ADC values in both control group and IgAN group (P < 0.05). There were statistically significant differences in renal cortical ADC values and medulla ADC values between control group and IgAN subgroups (P<0.05). But there was no significant difference in renal cortical ADC value between IgANⅠgroup and control group (P>0.05). There was a positive correlation between the renal cortical and medulla ADC values and the GFR values in IgAN group (P<0.01). Negative correlation was found between the renal cortical and
medulla ADC values and the Katafuchi scores in IgAN group (P<0.05). Conclusion The diffusion-weighted imaging can reflect the physiological functions of kidney. It was feasible for application DWI in IgA nephropathy, which can be used for assessing the renal filtration function and the pathological damage. However, DWI measurement is not sensitive to early renal disease.

Objective Clinical treatment can delay the development of renal interstitial fibrosis , but it can not reverse renal dysfuntion.The article was to discuss the influence of recombinant human erythropoietin ( rHuEPO ) on inflammatory factors in the process of renal interstitial fibrosis and its possible mechanism . Methods The vitro cultured HK-2 cells were randomized into 7 groups:the blank control group , rHuEPO control group ( addition of 20U/mL rHuEPO), albumin stimulation group (addition of 5mg/mL albumin), 5mg/mL rHuEPO intervention group (5mg/mL albumin +5U/mL rHuEPO), 10 U/mL rHuEPO intervention group (5mg/mL albumin +10 U/mL rHuEPO), 20U/mL rHuEPO intervention group (5mg/mL albumin +20U/mL rHuEPO), and Rho inhibi-taion group (addition of 5mg/mL albumin 30min after 10μmol/L Y27632), 24 h acting time for each group.We observed the changes of cell morphology in each group .Reverse transcription polymerase chain reaction ( RT-PCR) was used to evaluate the mRNA levels of RhoA, ROCK1 and IL-6 , and ELISA was applied to measure the levels of supernatant TNF-αand IL-6 protein. Results The form of pebbles or paving stone was observed in blank control group and rHuEPO intervention groups , a long and thin spindle change with the appearance of fibre cells in albumin stimulation group , the transformation to pebbles in 5, 10, 20 mg/mL rHuEPO intervention groups , the form of oval and slightly increased intercellular space in Rho inhibitaion group .Compared with the blank control group , the expressions of RhoA mRNA, ROCK1 mRNA and IL-6 mRNA significantly increased in the albumin stimulation group (P<0.05), while significantly reduced in 5, 10, 20 mg/mL rHuEPO intervention groups (P<0.05), which was in negative relation with the rHuEPO concentrations .Compared with the albumin stimulation group , the expressions of ROCK 1 mRNA and IL-6 mRNA reduced in Rho inhibtation group (P<0.05), while there was no significant difference as to the expression of RhoA mRNA .ELISA results showed:compared with blank control group , the expressions of supernatant TNF-α([452.32 ±33.23] ng/L vs [1347.54 ±41.52] ng/L), IL-6 protein([884.62 ±0.73] pg/L vs [95.12 ±0.32]pg/LP<0.05) increased significantly.Compared with albumin stim-ulation group, the expressions of TNF-αin 5, 10, 20 mg/mL rHuEPO intervention groups and Rho inhibitation group reduced signifi-cantly([1003.32 ±3.42] ng/L, [821.32 ±21.32] ng/L, [590.15 ±7.68] ng/L, [488.13 ±65.03] ng/L vs [1 347.54 ± 41.52]ng/L,P<0.05), while the expressions of IL-6 mRNA reduced accordingly in 5, 10, 20 mg/mL rHuEPO intervention groups and Rho inhibitation group reduced significantly ([656.68 ±0.55] pg/L, [422.35 ±0.22] pg/L, [217.32 ±0.35] pg/L, [309.49 ±0.21] pg/L vs [884.62 ±0.73]pg/L,P<0.05).Moreover, there was significant statistical difference among 5, 10, 20 mg/mL rHuEPO intervention groups(P<0.05). Conclusion RHuEPO can inhibit the transdifferentiation process of HK-2 cells in-duced by albumin by suppressing inflammation factors , and the mechanism may be involved in RhoA/ROCK signaling pathway .

Objective To study the effects of erythropoietin (rhEPO) in high glucose induced proliferation and apopto?sis of human kidney proximal tubular epithelial (HK-2) cells, and the possible mechanism thereof. Methods HK-2 cells cultured in vitro were divided into several groups randomly:blank control group, high glucose group, mannitol group, rhEPO control group, different concentrations of rhEPO treatment groups (5, 10, 20 U/mL) and Rho kinase group. The reverse tran?scription polymerase chain reaction (RT-PCR) was used to evaluate the mRNA levels of RhoA and ROCK after 24 hours. Tetrazolium salt method (MTT) was used to determine the cell proliferation. Cell apoptosis was detected by flow cytometry. Results Compared with blank control group the expression levels of RhoA and ROCK1 mRNA were significantly in?creased in high glucose group (P < 0.05). RhoA, ROCK1 mRNA expressions significantly decreased in rhEPO group than those of high glucose group (P<0.05). There was a positive correlation between the expression levels of RhoA mRNA and ROCK1 mRNA in high glucose group and rhEPO group. MTT method showed that rhEPO significantly promoted the prolifer?ation of HK-2 cells (P<0.05). Flow cytometry analysis showed that high glucose induced apoptosis in HK-2 cells, which was significantly inhibited in rhEPO group and Rho kinase group as compared to that of high glucose group in a concentra?tion dependent manner (P<0.05). Conclusion rhEPO can promote HK-2 cell proliferation and inhibit apoptosis, which may be related to RhoA/ROCK signaling pathway.

OBJECTIVETo analyze chromosome aberration in a child with mental retardation and abnormalities and its parents.

METHODSChromosome G banding, multiplex ligation-dependent probe amplification, fluorescence in situ hybridization and single nucleotide polymorphisms array were employed for analysis.

RESULTSKaryotype analysis revealed that the child was 46,XX and the father was 46,XY, while the mother was 46,XX, add (12)(p13). Subtelomeric region analysis with MLPA displayed that the child has reduced ACP1 gene copy number in 2p25 region and increased SLC6A12,KDM5A gene copy numbers in 12p11 region. SNP-array has fine mapped the duplication to 12p13.33-p12.3, a 15.142 Mb region, and a deletion to 2p25.3 for 3.194 Mb, which resulted in duplication of 9 genes including SLC6A12 as well as deletion of 11 genes including SNTG2, respectively. FISH analysis revealed that the child was 46,XX,ish,der(2),t(2;12)(p25;p13)mat, or partial monosomy 2p25 and partial trisomy 12p13. In addition,the mother was a carrier with cryptic balanced translocation chromosome, 46,XX,isht(2;12) (p25;p13). Mental abnormalities and retardation of the child may be attributed to heterozygous deletion of SNTG2, MYT1L genes and duplication of SLC6A12 gene.

CONCLUSIONCombined use of MLPA, FISH and SNP-array can facilitate accurate diagnosis of cryptic rearrangement at genomic level.

Adolescent ; Adult ; Carrier Proteins ; genetics ; Child ; Child, Preschool ; Chromosome Banding ; Chromosome Deletion ; Chromosomes, Human, Pair 12 ; genetics ; Chromosomes, Human, Pair 2 ; genetics ; Female ; Gene Rearrangement ; Humans ; Intellectual Disability ; diagnosis ; genetics ; Male ; Pedigree ; Protein Tyrosine Phosphatases ; genetics ; Proto-Oncogene Proteins ; genetics ; Translocation, Genetic ; Trisomy ; Young Adult

In recent years , active vitamin D is a hot research drugs because of its renal protective effect of independent regu -lation of anti-inflammatory effects outside calcium and phosphorus metabolism , regulation of apoptosis , mediated immunity and reduc-tion of proteinuria .Podocyte is the main target of active vitamin D based on the result of clinical and animal studies .In this article, we review the current literature on mechanism of active vitamin D and its analogues on the protection of podocytes about and give the clini -cal perspectives of activity vitamin D .