Objective To evaluate the effects of unilastatin on brain injury in children undergoing aortic arch surgery under cardiopulmonary bypass (CPB).Methods Twenty ASA physical status Ⅲ or Ⅳ children of both sexes,aged 1-24 months,weighing 3-12 kg,undergoing repair of coarctation of aorta or interrupted aortic arch complicated with intracardiac malformations under CPB,were randomly divided into 2 groups (n =10 each):control group (group C) and ulinastatin group (group U).Ulinastatin 20 000 U/kg was diluted into 10 000 U/ml with normal saline and it was then injected intravenously in 3 parts (1/3 was injected via the internal jugular vein after induction of anesthesia; 1/3 at the beginning of CPB and 1/3 at 5 min before aortic unclamping).In group C the equal volume of normal saline was given instead of ulinastatin.Blood samples were taken from the radial artery after induction of anesthesia (T1),at 10 min after aortic clamping (T2),at 10 min after aortic unclamping (T3),at the end of CPB (T4),and at 6 and 24 h after termination of CPB (T5,T6) for determination of plasma S100B protein and neuron-specific enolase (NSE) concentrations.Results There was no significant difference in plasma levels of S100B protein and NSE at T1 between the two groups (P ＞ 0.05).Plasma S100B protein and NSE levels were significantly increased at T2-5 as compared to the baseline values at T1 in both groups (P ＜ 0.05).Plasma S100B protein and NSE levels were significantly lower at T2-5 in group U than in group C (P ＜ 0.05).Conclusion Ulinastatin can attenuate brain injury in children undergoing aortic arch surgery under CPB.

Objective To compare the effect of anesthesia management between enhanced recovery after surgery (ERAS) protocol and traditional protocol on stress level of thyroid surgery.Methods Sixty-two patients receiving thyroid surgery from May 2016 to August 2016, 13 males and 49 females, aged 18-65 years, of ASA physical status Ⅰ or Ⅱ, were randomly divided into group ERAS (n=29) and traditional group (group C, n=33).Each group had its own anesthesia management protocol.Operation method, operation duration, the level of pain during emergence and on the first postoperative day, the occurrence rate of complications and the satisfaction evaluation of pain and nausea and vomiting after the operation day were recorded.C-reactive protein (CRP), serum cortisol, interleukin-6 (IL-6), interleukin-8 (IL-8) and tumor necrosis factor (TNF-α) before and after the operation day were evaluated.Results The visual analogue scale (VAS) pain score in group ERAS was lower than that in group C during emergence [(0.42±0.83) points vs (0.95±1.16) points]and on the first postoperative day [(1.90±1.21) points vs (2.73±1.40) points] (P<0.05).Group ERAS was more satisfied with pain relief at first day after the surgery than that of group C (P<0.05).The level of CRP in group ERAS was lower than that in group C on the operative day and the first postoperative day (P<0.05).In group C, the level of CRP on the operative day and the first postoperative day were much higher than those before the surgery (P<0.05).The occurrence rate of complications between the two groups had no statistical difference.Conclusion The perioperative ERAS anesthesia management of thyroid surgery is safe and effective in pain management, patient satisfaction and accelerated recovery.

Objective To investigate the genetic basis of patients with intellectual disability,and to assess the application of single nucleotide polymorphisms (SNP)-array in the molecular diagnosis of intellectual disability.Methods Sixty-four patients with intellectual disability who were identified in Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2013 to June of 2015 were enrolled.Genomic DNA was extracted from peripheral blood and was analyzed with Illumina Humancyto SNP-12 300K gene array chip.All identified copy number variants (CNVs) were analyzed with references from databases such as ClinVar,DECIPHER,OMIM and DGV(Database of Genomic Variants),as well as comprehensive literature review from PubMed database to determine the pathogenicity of CNVs.Results Sixteen cases of the above 64 patients were found to have CNVs with genomic alterations,including 6 cases microdeletions/microduplications associated with known syndromes,3 cases microdeletions and microduplications with clear clinical relevance (non-syndrome),1 case numerical chromosome aberration,1 case unbalanced translocation and 5 cases CNVs of unknown clinical significance.The detection rate was 25% (16/64 cases).Among these 16 abnormalities,6 cases of them could not be detected by using karyotyping analysis because their sizes were less than 5 Mb,and the smallest detected missing fragment was 0.53 Mb.Conclusion SNP-array gene chip technique with the advantages of higher efficiency,high-resolution and good accuracy,which can be applied to the genetic diagnosis of intellectual disability.

Objective To explore the diagnostic and score value of ultrasound on hemophiliac arthropathy referring to MRI on the diagnosis and score of hemophiliac arthropathy Methods The ultrasound and MRI examinations were performed on 42 joints of 42 hemophilia patients 14 knees 14 ankles and 14 elbows The consistency of ultrasound and magnetic resonance imaging in the detection and score of joint diseases was compared Finally inter-and intra-observer agreement of ultrasound scoring system were tested Results The consistency of ultrasound and magnetic resonance imaging was excellent κ=0 763-0 896 P < 0 001 in the detection of early soft tissue lesions effusion or hemarthrosis synovial hypertrophy hemosiderin excellent κ=0 793 P <0 001 in the detection of cartilage loss poor κ=0 133 P = 0 132 in the detection of erosions and poor κ= 0 100 P = 0 137 in the detection of subchondral cysts The consistency of ultrasound and magnetic resonance imaging was good to excellentκ=0 684-0 833 P < 0 001 in the score of early soft tissue lesions effusion or hemarthrosis synovial hypertrophy and hemosiderin and poor to good κ=0 145 -0 635 P <0 001 in the score of advanced osteochondral lesions cartilage loss and bone erosions The inter-observer agreement was good to excellent κ=0 676-0 870 P <0 001 for early soft tissue lesions and moderate to excellent κ=0 421- 0 75 1 P < 0 001 for advanced osteochondral lesions The intra-observer agreement was good to excellent κ=0 705-0 885 P <0 001 for early soft tissue lesions and moderate to good κ=0 532 -0 732 P <0 001 for advanced osteochondral lesions Conclusions Ultrasound plays an important role in detecting early soft tissue changes effusion or hemarthrosis synovial hypertrophy hemosiderin and cartilage loss which helps follow-up and guide clinical treatment.

Objective To prepare dual-targeted pH-sensitive DOX prodrug-microbubble complex and explore the characterization of complex with ultrasound as well as drug release in vitro . Methods Dual-targeted ligands ,cRGD and folate were conjugated with heparin using carbodiimide method ,and then the dual-targeted pH-sensitive DOX prodrug was synthesized by coupling DOX via a pH-sensitive hydrazone bond . The prodrug was combined with microbubbles to prepare complex by biotin-avidin system . The characterization of complex with/without ultrasound was investigated for size ,morphology and drug loaded capacity .In vitro drug release manner of complex with/without at different pH was analyzed . Results DOX content of the prodrug determined by UV Spectrophotometry was about 18 .9％ . Dynamic laser light scattering analysis( DLS) ,corresponding to transmission electron microscope( TEM ) findings ,revealed its inhomogeneous size distribution [ mean size ( 159 .7 ± 24 .5) nm and ( 1089 .0 ± 174 .9) nm ] . However ,the complex was dispersed into uniform fragment after ultrasound irradiation [ mean size ( 155 .9 ± 29 .8) nm , polymer dispersity index( PDI) 0 .22 ,Zeta potential - ( 20 .6 ± 3 .4) mV ] . The cumulative release rate of DOX from both complex and complex with ultrasound at pH 5 .0 were much faster than that at pH 7 .4 , displaying a pH-triggered release manner . Conclusions Dual-targeted pH-sensitive DOX prodrug-microbubble complex displays excellent drug release activity in acid environment . Uniform fragment and smaller particle size of complex could be achieved via ultrasound irradiation ,promoting DOX accumulation within tumor tissue and facilitating in vivo antitumor ability .

Objective:To analyze the prognostic factors of children with septic shock in the pediatric intensive care unit.Methods:The clinical data of children diagnosed with septic shock in the pediatric intensive care unit of Guiyang Maternal and Child Health Hospital from April 2018 to April 2022 were retrospectively collected,and the children were divided into the death group and the survival group according to seven days regression.The basic data of the two groups were statistically compared，and the relationship between lactic acid，vasoactive-inotropic score one hour after admission，time of antibiotic initiation，serum potassium，serum sodium，serum calcium，serum troponin T，fluid resuscitation volume in the first hour，glutamyl aminotransferase，creatinine，total leukocyte count，C-reaction protein，brain natriuretic peptide were compared.The risk factors affecting the death of children were analyzed by Logistic regression.The relationship between fluid resuscitation volume in the first hour and prognosis was analyzed using the receiver operator characteristic (ROC) curve.Results:（1）A total of 67 children were included，19 died and 48 survived.（2）The first-hour liquid resuscitation dose in the survival group was lower than that in the death group，and the difference was statistically significant（ P<0.05）.（3）The ROC curve showed that the optimal cut-off of the first-hour liquid resuscitation dose was 25 mL/kg，with a sensitivity of 57.9% and a specificity of 72.9%.（4）In unifactorial analysis，lactic acid in the first hour of admission，early lactic acid after resuscitation，serum calcium，serum troponin T，alanine aminotransferase，combined septic encephalopathy，Glasgow coma score，and pediatric critical illness score were all risk factors for death in children within seven days（ P<0.05）.(5) Multivariate Logistic regression analysis showed that serum calcium（ OR=1.435， P=0.001）and lactic acid value after resuscitation（ OR=0.040， P=0.021）were independent risk factors for death in septic shock. Conclusion:The higher the total fluid resuscitation in the first hour，the higher the fatality rate.Serum calcium and early lactic acid after resuscitation are independent risk factors for death in children within seven days.

OBJECTIVETo study the pattern of CGG repeat instability within germline cells derived from two male fetuses affected with Fragile X syndrome (FXS).

METHODSThe length and methylation status of CGG repeats within the testes of a fetus carrying a full FXS mutation and another fetus carrying mosaicism FXS mutation were analyzed with Southern blotting and AmplideX FMR1 PCR. Immunohistochemistry was also applied for the measurement of FMR1 protein (FMRP) expression within the testes.

RESULTSFor the fetus carrying the full mutation, Southern blotting analysis of the PCR product has detected an expected band representing the full mutation in its brain and a premutation band of > 160 CGG repeats in its testis. Whereas the pattern of premutation/full mutation in mosaic testis was similar to that in peripheral blood and no sign of contracted fragment was found other than a band of about 160 CGG repeats. Immunohistochemistry assay with a FMRP-specific antibody demonstrated a number of FMRP-positive germ cells, which suggested a contraction from full mutation to premutation alleles.

CONCLUSIONThis study has clarified the instability pattern of CGG repeat and expression of FMRP protein within the testes of fetuses affected with FXS, confirming that the CGG repeat can contract progressively within the germline. The FMRP expression in the testis is consistent with spermatogonium proliferation, and thus the contraction from full mutation to unmethylated premutations may occur for the requirement of FMRP expression during spermatogenesis. The better understanding of FMRP function during germ cell proliferation may elucidate the mechanism underlying the contraction of full FXS mutation in male germline.

Abortion, Eugenic ; Blotting, Southern ; Brain ; embryology ; metabolism ; DNA Methylation ; Fatal Outcome ; Fetus ; cytology ; metabolism ; Fragile X Mental Retardation Protein ; genetics ; metabolism ; Fragile X Syndrome ; diagnosis ; genetics ; Humans ; Immunohistochemistry ; Male ; Mosaicism ; Mutation ; Polymerase Chain Reaction ; Spermatozoa ; metabolism ; Testis ; cytology ; embryology ; metabolism ; Trinucleotide Repeat Expansion ; genetics

Objective To evaluate the quality of postoperative recovery of patients undergoing cardiac great vessels surgery by 15-item Recovery Quality Score Scale(QoR-15),to retrospectively analyze the influence of perioperative multi-factors on postoperative recovery quality,and to establish the predictive model.Methods Clinical data of patients who underwent cardiac great vascularsur-gery from March 2020 to September 2022 were collected through electronic medical record system and the postoperative QoR-15 score were evaluated.The data including gender,age,postoperative follow-up time,American Society of Anesthesiologists(ASA)classification,preoperative lactate level,co-morbidities,emergency or not,extracorporeal circulation or not,etc.were collected.The modified frailty index(mFI)was also calculated.Surgical patterns,operation time,extracorporeal circulation time,aortic block time,type of heart recurrence,perioperative fluid therapy,extracorporeal circulation temperature,and other postoperative data as well as postoperative data including ICU retention time after surgery,total length of stay and QoR-15 score were recorded.The univariate and multivariate Logistic regression analysis were then applied to construct a prediction model,and its accuracy was validated.Results A total of 213 patients were included,in which 15 patients were excluded,and 198 postoperative QoR-15 score sheets were received.Gender,ASA classification,preoperative lac-tate level,postoperative follow-up time,and mFI were significant influencing factors on the quality of rehabilitation of patients undergoing cardiac or great vascular surgery.The prediction model of ln(p/1-p)=-5.571+0.862 × gender+3.844 × ASA classification+3.143 × preoperative lactate level+2.001 × postoperative follow-up time+3.712 × mFI,which had good predictive and classifi-cation effects.Conclusion Gender,ASA classification,preoperative lactate level,postoperative follow-up time and mFI are influencing factors on the recovery quality of patients after cardiac great vascular surgery.

OBJECTIVE: To explore the genetic basis and pregnancy outcome of fetuses with urinary system anomalies. METHODS: Ultrasonographic features, genetic testing and pregnancy outcomes of 337 fetuses with urinary system anomalies identified by prenatal ultrasonograhy were collected for analysis. RESULTS: Ultrasonographic features of the fetuses were mainly characterized by hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia. Thirty four fetuses (10.1%) were found to harbor a genetic defect, including 14 numerical chromosomal disorders, 10 structural chromosomal aberrations, and 10 pathogenic copy number variations (CNVs). In 31 cases, the parents elected induced labor. For the 303 fetuses with negative findings, 142 were born by spontaneous delivery or Caesarean section, 48 cases underwent induced labor, 1 case had miscarriage, and the remaining 112 cases had unknown or missed pregnancy outcomes. CONCLUSION Hydronephrosis or hydronephrosis, polycystic kidney disease, and renal dysplasia are the most common findings among fetuses with urinary system anomalies. Approximately 10.1% of such fetuses are positive by genetic testing.
Cesarean Section ; Chromosome Aberrations ; DNA Copy Number Variations ; Female ; Fetus ; Genetic Testing ; Humans ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis ; Ultrasonography, Prenatal

Objective:To evaluate the value of phase analysis of gated myocardial perfusion imaging (GMPI) in predicting major adverse cardiac events (MACE) in patients with coronary atherosclerotic heart disease.Methods:Patients who underwent two-day rest-stress GMPI in the Department of Nuclear Medicine of Beijing Hospital from September 2012 to January 2014 were selected as observed subjects and analyzed retrospectively. The general clinical information, GMPI images and related parameters including phase standard deviation (PSD), phase histogram bandwidth (PBW), entropy, left ventricular ejection fraction (LVEF), summed stress score (SSS), peak ejection rate (PER), peak filling rate (PFR) were noted. Patients were followed up until the onset of MACE (cardiac death, nonfatal myocardial infarction, and late revascularization within 60 d after GMPI). χ2 test, independent-sample t test or Wilcoxon rank sum test were used to compare data between different groups. The independent risk factors of MACE were obtained by Cox proportional risk regression model. Kaplan-Meier survival curve analysis was used to analyze the cumulative survival rate without MACE. Results:A total of 505 patients (235 males, 270 females, median age: 73 years) were followed up successfully, with a median follow-up period of 55.6(52.0, 60.5) months. There were 54 cases (10.7%) with MACE: 6 patients with cardiac death, 27 patients with non-fatal myocardial infarction, and 21 patients with late revascularization. The incidence of hypertension and hyperlipidemia in patients with MACE was significantly higher than that in patients without MACE ( χ2 values: 4.126, 6.021, both P<0.05); LVEF, PFR and absolute value of PER of patients with MACE were significantly lower ( t/ z values: 6.261, 5.683, -4.246, all P<0.05), while SSS, PSD, PBW and entropy were significantly higher ( t/ z values: 5.024, 5.874, 7.119, -6.405, all P<0.05). Cox proportional risk regression model showed that abnormal PBW(>80°), abnormal entropy(>58 J·mol -1·K -1) and SSS≥12 were independent risk factors for MACE (odds ratio( OR) values: 2.795(95% CI: 1.259-6.201), 3.213(95% CI: 1.468-7.029), 3.640 (95% CI: 1.999-6.628), all P<0.05). The 5-year cumulative MACE-free survival rates of abnormal PSD group(>26.7°), abnormal PBW group and abnormal entropy group were 51.2%, 63.2% and 46.7%, which were significantly lower than those of normal PSD group (92.3%; χ2=77.768, P<0.05), normal PBW group (94.2%; χ2=77.741, P<0.05) and normal entropy group (92.8%; χ2=117.437, P<0.05). The 5-year cumulative MACE-free survival rate (31.7%) of patients with abnormal PBW and SSS≥12 was significantly lower than that of patients with normal PBW or patients with abnormal PBW and SSS<12 (80.1%-94.4%; χ2=185.4, P<0.01). The combination analysis of entropy and SSS showed similar results. Conclusions:PBW and entropy obtained by GMPI phase analysis are independent risk factors for predicting MACE in coronary artery disease. GMPI phase analysis is useful for coronary artery disease risk stratification.