Objective:To obtain the normal reference range of hemodynamic ultrasound parameters after pediatric liver transplantation through big data query and statistical analysis, and compare their changes with age.Methods:The clinical liver transplantation ultrasound imaging database software V1.0 independently developed by Tianjin First Central Hospital was used to query the ultrasound hemodynamic parameters of 0-14 years old pediatric patients after parental liver transplantation from December 2012 to December 2022, including portal vein diameter (PVD) on the 1st day, 7th day, 1st month, 6th month, 1st year, 5th year, and 10th year after surgery. The changes in ultrasound blood flow parameters such as portal vein velocity (PVV), hepatic artery peak velocity (S), hepatic artery end diastolic velocity (D), and left hepatic vein velocity (LHVV) with postoperative time in different age groups were analyzed, the differences between age groups were compared, and statistical analysis was perform to obtain the 95% reference value range for each parameter.Results:A total of 731 pediatric patients aged 0-14 years who underwent parental liver transplantation were included in this study, with a total of 5 283 monitoring results. The ultrasound hemodynamic parameters PVV, hepatic artery S, D, and LHVV were highest at 7th day after surgery, and gradually showed a sustained and slightly decreasing trend with the prolongation of postoperative time. At the same time, there was no statistically significant difference in PVV, hepatic artery S, D, and LHVV among different age groups (all P>0.05). Conclusions:This study obtains the trend of ultrasound hemodynamic parameters after pediatric liver transplantation with prolonged follow-up time, and compared them among different age groups.After pediatric liver transplantation, there is no significant change in liver hemodynamic parameters with increasing age. Obtaining reference value ranges for various parameters in different age groups is of great clinical significance for early detection and diagnosis of postoperative vascular complications. Pediatric liver transplantation is more complex than adult liver transplantation, and in clinical monitoring, more attention should be paid to the dynamic changes of transplanted liver blood flow, combining with individual patient status, to provide imaging support for clinical diagnosis.

Objective:To explore the diagnostic efficacy of ultrasonography and follow-up outcomes of hepatic venous outflow obstruction after liver transplantation(LT)in children.Methods:From July 2017 to January 2022, 32 children diagnosed with outflow tract obstruction post-LT are designated as HVOO group and examined by digital subtraction angiography(DSA).All of them underwent balloon dilation.Thirty cases with no vascular complications are selected as control group.Color Doppler blood flow parameters are recorded, including peak systolic velocity(PSV), peak diastolic velocity(PDV), PSV/PDV(S/D), resistive index(RI), portal vein velocity(PVV), hepatic vein velocity(HVV), hepatic vein waveform, anastomotic velocity and waveform.Intravascular pressure values of DSA within 48h are recorded.The correlations between color Doppler flow parameters and intravascular pressure values are examined before and after tube expansion.The differences of color Doppler flow parameters before tube expansion between HVOO and control groups are compared.And receiver operating characteristic(ROC)curves are plotted for obtaining ultrasonic parameters' cut-off value.Patients with excellent recovery are selected for comparing the difference of color Doppler blood flow parameters before and after tube expansion and detect the trend of hemodynamics.Results:There is a positive correlation between anastomotic velocity of hepatic vein and inferior vena cava and DSA before and after tube expansion in HVOO group(r=0.483, 0.414, all P<0.05); S/D, RI and anastomotic velocity are higher in HVOO group than those in control group( Z=-3.275, P=0.001; t=3.437, P=0.001; Z=-5.677, P<0.01); PV and HVV are lower in HVOO group than those in control group( Z=-2.719, P=0.007; Z=-6.762, P<0.01); The waveforms of hepatic vein and anastomosis in HVOO group are mostly single-phase waves, accounting for 81.25%(26/32)and 53.12%(17/32).Control group is mostly of dual-phase wave.According to ROC curve analysis, area under curve(AUC)of HVV diagnosing HVOO is 0.996 with a critical value of 21.65 cm/s; AUC of hepatic vein anastomosis velocity is 0.92 with a critical value 162 cm/s and AUC of RI 0.76 with a critical value of 0.73.PVV and HVV values after tube expansion are higher than before tube expansion( Z=-2.233, P=0.026; Z=-4.45, P<0.01); Anastomotic velocity after tube expansion is lower than that before tube expansion( t=8.584, P<0.01).The waveforms of hepatic vein and anastomosis are mostly of single-phase waves(76.92%, 61.54%)before tube expansion and dual-phase wave(88.46%, 96.15%)after tube expansion. Conclusions:Color Doppler ultrasound is a preferred imaging modality for diagnosing HVOO and conducting postoperative follow-ups in children after LT because of its non-invasiveness, real-time, simplicity and rapidness.Furthermore, the diagnostic efficiencies of hepatic vein and anastomotic velocity are relatively high.

Objective:To explore the characteristics of postoperative hemodynamic changes in patients with early allograft dysfunction (EAD), and to provide clinical imaging support for the early diagnosis of EAD.Methods:A total of 907 patients who underwent liver transplantation in Tianjin First Central Hospital from December 2012 to June 2021 were retrospectively selected, and they were divided into EAD group (361 cases) and non-EAD group (546 cases) according to EAD diagnostic criteria. The peak systolic velocity(PSV) of the hepatic artery, end-diastolic velocity(EDV) of the hepatic artery, resistance index(RI), S/D(PSV/EDV), diameter of the portal vein(PVD), velocity of the portal vein(PVV), diameter of the middle hepatic vein(MHVD), velocity of the middle hepatic vein(MHVV), the diameter of the right hepatic vein(RHVD), and the velocity of the right hepatic vein (RHVV) were collected from 1 to 7 days after operation (a total of 5 573 ultrasound examination results), and the differences in ultrasound hemodynamic parameters were compared between the two groups. The correlation of S/D<2, PSV<25 cm/s, PVV<15 cm/s, MHVV or RHVV<15 cm/s within 3 days after operation with the occurence of EAO were analyzed by multivariate Logistic regression analysis.Results:①The PSV and EDV of the hepatic artery in the EAD group and the non-EAD group showed a slow upward trend at 1-7 days after operation, while the hepatic artery RI and PVV showed a downward trend, the MHVV and RHVV did not fluctuate significantly. ②The hepatic artery in the EAD group showed low-resistance blood flow in the early postoperative period, and the EDV were significantly higher than that in the non-EAD group on 1 d, 2 d, 3 d and 5 d, RI was significantly lower than that of the non-EAD group (all P<0.05); At 4 d, 6 d and 7 d, there was no significant differences of EDV and RI between the two groups(all P>0.05). The PSV of the EAD group was higher than that of the non-EAD group on 3 d ( P<0.05). Among the parameters of portal vein blood flow, the PVV in the EAD group was significantly higher than that in the non-EAD group on 1 d ( P<0.05), and there was no significant difference of PVD between the two groups at day 1-7. Among the parameters of hepatic venous blood flow, the MHVV and RHVV in the EAD group were significantly lower than those in the non-EAD group (all P<0.05), there was no significant difference between the two groups of MHVD and RHVD at 1-7 days. ③The incidence of grafted hepatic artery S/D<2 within 3 days after operation in EAD group was higher than that in non-EAD group. Binary Logistic regression multivariate analysis showed that the occurrence of grafted hepatic artery S/D<2 within 3 days after operation was significantly correlated with the occurrence of EAD[Exp(B)=1.878, P<0.05]. Conclusions:Patients who develop EAD after liver transplantation show low-resistance blood flow in the hepatic artery during the perioperative period, and the occurrence of hepatic artery S/D<2 within 3 days after operation can early predict the occurrence of EAD.

Objective:To investigate the correlation between Doppler ultrasound parameters and pressure gradient of portal vein in pediatric liver transplant patients, and to analyze the diagnostic value of Doppler ultrasound for portal vein stenosis.Methods:This retrospective study involved the data from 92 pediatric liver transplant patients in Tianjin First Central Hospital from June 2014 to September 2021, who underwent pressure gradient measurement. The collected ultrasonic parameters included the diameter and flow velocity of the native portal vein, the portal vein anastomosis, and the donor portal vein. The anastomotic stenosis rate=(the native portal vein diameter–the portal vein anastomosis diameter)/the native portal vein diameter, the velocity ratio=the portal vein anastomosis velocity /the native portal vein velocity, the velocity difference=the portal vein anastomosis velocity–the native portal vein velocity. According to the diagnostic standard of portal vein stenosis, pressure gradient more than 5 mmHg was the portal vein stenosis group, and the pressure gradient less than 5 mmHg was the non-stenosis group. The correlation and differences between ultrasonic parameters and pressure gradient were analyzed. ROC curve was used to evaluate the diagnostic efficiency of each parameter.Results:Firstly, there was a positive correlation between pressure gradient and the portal vein anastomosis velocity, the velocity difference and the velocity ratio ( r=0.521, 0.531, 0.417; all P<0.001). And there was a negative correlation between pressure gradient and the anastomotic diameter ( r=-0.284, P=0.004). Secondly, the portal vein anastomotic velocity, velocity difference and velocity ratio in stenosis group were significantly higher than those in non-stenosis group [135.5(111.0, 169.0)cm/s vs 103.7(72.9, 118.7)cm/s, (112.2±40.3)cm/s vs (67.9±30.5)cm/s, 5.56(3.73, 7.26) vs 3.85(2.78, 4.70); all P≤0.001]; Furthermore, by ROC curve analysis, the cut-off value, the area under the ROC curve, Jordan index, accuracy, sensitivity and specificity of each parameter for the diagnosis of portal vein stenosis were: the anastomotic velocity 124.5 cm/s, 0.814, 0.592, 80.0%, 65.5% and 93.7%; velocity ratio 5.67, 0.760, 0.488, 73.0%, 48.8% and 100%; velocity difference 107.25 cm/s, 0.797, 0.511, 76.0%, 51.9% and 100%. Conclusions:The anastomosis velocity, velocity difference and velocity ratio of portal vein in pediatric liver transplant patients are correlated with the pressure gradient, and there is higher accuracy and specificity of each parameter for diagnosing portal vein stenosis, but the sensitivity is slightly lower.

Objective:To obtain the normal reference range of ultrasound hemodynamic parameters after liver transplantation through big data query and statistical analysis, and to analyze its influencing factors.Methods:The clinical liver transplantation Ultrasound Image Database Software V1.0 developed by Tianjin First Center Hospital was used to query adult patients after liver transplantation from December 2012 to June 2021. The ultrasonic hemodynamic parameters including the diameter of portal vein (PVD), the flow velocity of portal vein (PVV), the peak flow velocity of hepatic artery (S), the end diastolic flow velocity of hepatic artery (D), the S/D of hepatic artery, the resistance index of hepatic artery (RI), the diameter of middle hepatic vein (MHVD), the flow velocity of middle hepatic vein (MHVV), the diameter of right hepatic vein (RHVD), the flow velocity of right hepatic vein (RHVV), in the first day (1D), the seventh day (7D), the first month (1M), the sixth month (6M), the first year (1Y), the fifth year (5Y) and the tenth year (10Y) after operation were analyzed statistically, and the 95% reference value range of each parameter was obtained.Results:A total of 1 740 patients with 12 242 monitoring results after adult liver transplantation were included, and the longest follow-up time was 22 years. There was no significant change in PVD. PVV decreased slightly from postoperative 1D to long-term follow-up. The S and D of hepatic artery were the highest in group 7D after liver transplantation, and then decreased gradually with the extension of postoperative time. Hepatic artery S/D was the lowest in group 7D after operation, with the extension of monitoring time after liver transplantation, it showed an upward trend, but fluctuated. Hepatic artery RI was the highest in postoperative 1D group, and fluctuated with the extension of monitoring time after liver transplantation. There was no significant change in MHVD and RHVD.MHVV and RHVV were the highest in group 7D after liver transplantation, with the extension of postoperative monitoring time, they showed a decreasing trend and fluctuated. The normal range of each parameter was estimated according to the range of 95% medical reference value. The influencing factors of blood flow monitoring of transplanted liver were analyzed, including the various factors in perioperative period, the surgery, the primary disease before operation, the source of donor, the postoperative infection, rejection, drug damage, individual differences and so on.Conclusions:This study obtains the trend of each parameter with the extension of follow-up time and the reference value range of each parameter after liver transplantation, which is of great clinical significance for early detection and diagnosis of postoperative vascular complications. However, the blood flow after adult liver transplantation is affected by many factors. In clinical monitoring, it is necessary to make judgment combined with the individual state of patients and conduct dynamic follow-up.

OBJECTIVE: To explore the genetic basis for 7 patients with Alström syndrome. METHODS: DNA was extracted from peripheral blood samples of the patients and their parents. Whole exome sequencing was carried out for the patients. Suspected variant was verified by Sanger sequencing and bioinformatic analysis. RESULTS: Genetic testing revealed 12 variants of the ALMS1 gene among the 7 patients, including 7 nonsense and 5 frameshift variants, which included c.5418delC (p.Tyr1807Thrfs*23), c.10549C>T (p.Gln3517*), c.9145dupC (p.Thr3049Asnfs*12), c.10819C>T (p.Arg3607*), c.5701_5704delGAGA (p.Glu1901Argfs*18), c.9154_9155delCT (p.Cys3053Serfs*9), c.9460delG (p.Val3154*), c.9379C>T (p.Gln3127*), c.12115C>T (p.Gln4039*), c.1468dupA (p.Thr490Asnfs*15), c.10825C>T (p.Arg3609*) and c.3902C>A (p.Ser1301*). Among these, c.9154_ 9155delCT, c.9460delG, c.9379C>T, and c.1468dupA were unreported previously. Based on the standards and guidelines of American College of Medical Genetics and Genomics, the c.9379C>T and c.12115C>T variants of the ALMS1 gene were predicted to be likely pathogenic (PVS1+PM2), whilst the other 10 variants were predicted to be pathogenic (PVS1+ PM2+ PP3+PP4). CONCLUSION ALMS1 variants probably underlay the Alström syndrome in the 7 patients, and genetic testing can provide a basis for the clinical diagnosis of this syndrome. The discovery of four novel variants has expanded the mutational spectrum of Alström syndrome.
Alstrom Syndrome/genetics* ; Cell Cycle Proteins/genetics* ; Humans ; Mutation ; Pedigree ; Whole Exome Sequencing

Objective To investigate the application value of the tissue diffusion quantitative analysis technique of real-time elastic( RTE) imaging in evaluation of liver damage caused by brain death . Methods Fifty cases of brain dead donor liver were examined by ultrasound elastography ,at the same time , 11 parameters were obtained by the tissue dispersion quantitative analysis software ,included MEAN ( mean relative strain value within the ROI) ,SD( standard deviation of the relative strain value within the ROI) ,％AREA (area of low strain within the ROI) ,COMP(complexity of low strain area within the ROI) ,KURT (kurtosis) ,SKEW(skewness) ,CONT (contrast) ,ENT(entropy) ,IDM(inverse difference moment) ,ASM (angular second moment) ,CORR(correlation) ,and the pathologic specimens in the process of operating were obtained . According to pathological findings ,50 patients were divided into damaged group and non-damaged group ,and the results were compared and analyzed . The correlation analysis of electronic speculum results and RTE were carried out . According to the ROC curve ,the RTE parameters'cut-off value and AUC were obtained .Results Among 11 parameters of tissue diffusion analysis ,MEAN and IDM in damaged group were higher than those in non-damaged group( all P < 0 .05) ;and SKEW and ENT were lower in damaged group than those in non-damaged group ( all P <0 .05) ;there was no significant difference in the other parameters between the two groups(all P >0 .05) . The MEAN ,SKEW ,COMP ,ENT and IDM had correlativity with electronic speculum( r = -0 .633 , P =0 .000 ;r =0 .388 , P =0 .005 ;r =0 .315 , P =0 .026 ;r = 0 .324 , P = 0 .022; r = -0 .314 , P = 0 .026 ,respectively ) . The diagnostic efficiency and sensitivity of MEAN were the highest , the critical value of MEAN was 125 .84 , AUC was 0 .907 . Conclusions The tissue dispersion quantitative analysis technique is a noninvasive method to preliminary evaluation of liver damage caused by brain death . M EAN had the highest effectiveness in eleven parameters .

Objective To analysis the clinical and gene mutation characteristics of hereditary fructose intolerance (HFI). Methods The clinical features and the results of gene testing in the child with HFI and her parents were analyzed retrospectively. Gene sequencing was carried out by high-throughput sequencing and validated by Sanger sequencing. Results The 4-year-3-month old girl had recurrent hypoglycemia episodes and growth retardation. When the condition was stable, the levels of lactic acid and urine micro protein were slightly higher, and the levels of thyroid hormone, cortisol, glycosylated hemoglobin, insulin and C peptide were normal.EEG showed epileptiform activity.Gene sequencing revealed the presence of aldolase B gene(ALDOB) compound heterozygous mutations, a novel splicing mutations (c.325-1G>A) in intron 3 and a frameshift mutation (c. 865delC;p.L289fs*10) in exon 8. Her father carries a frameshift mutation, and her mother carries a splicing mutation. Conclusion The diagnosis of HFI caused by ALDOB mutation can be confirmed by high-throughput sequencing technology.

Objective To explore the effect of clinical nursing pathways on improving cardiac function and prognostic quality of life in maintenance hemodialysis patients.Methods A total of 88 patients with maintenance hemodialysis admitted to our hospital from August 2015 to May 2016 were selected as control group (n =44) and experimental group (n =44) according to the consultation number.The patients in the control group were treated with routine nursing model,and the experimental group was treated with clinical nursing pathway on the basis of control group.The changes of heart function,quality of life,and the incidence of complications before and after intervention were compared between the two groups.Results Compared with treatment before,LVESD and LVEDD were significantly decreased in both experimental group and control group,while LVEF and quality of life scores were significantly increased,and the above indexes of the experimental group were significantly better than that in the control group (P ＜ 0.05);The incidence of complications in the experimental group was 11.36％,which was significantly lower than 36.36％ in the control group (P ＜ 0.05).Conclusion Clinical nursing pathways in maintenance hemodialysis patients can significantly improve cardiac function,reduce the incidence of complications,promote the recovery of patients,improve the quality of life.

Objective To explore the effect of clinical nursing pathways on improving cardiac function and prognostic quality of life in maintenance hemodialysis patients.Methods A total of 88 patients with maintenance hemodialysis admitted to our hospital from August 2015 to May 2016 were selected as control group (n =44) and experimental group (n =44) according to the consultation number.The patients in the control group were treated with routine nursing model,and the experimental group was treated with clinical nursing pathway on the basis of control group.The changes of heart function,quality of life,and the incidence of complications before and after intervention were compared between the two groups.Results Compared with treatment before,LVESD and LVEDD were significantly decreased in both experimental group and control group,while LVEF and quality of life scores were significantly increased,and the above indexes of the experimental group were significantly better than that in the control group (P ＜ 0.05);The incidence of complications in the experimental group was 11.36％,which was significantly lower than 36.36％ in the control group (P ＜ 0.05).Conclusion Clinical nursing pathways in maintenance hemodialysis patients can significantly improve cardiac function,reduce the incidence of complications,promote the recovery of patients,improve the quality of life.