Objective:To analyze the expression of myosin light chain phosphatase target subunit-1 (MYPT1), protein kinase C-activated phosphatase inhibitor 17 (CPI17), and protein phosphatase 1 catalytic subunit (PP1C) in the biliary epithelium of children with pancreaticobiliary maljunction (PBM).Methods:A total of 22 children with PBM and biliary dilatation from the Children's Hospital of Soochow University from March 2015 to December 2017 were collected as the PBM group ( n=22), including 8 males and 14 females, with an age of 4.2 (2.8, 6.3) years. 21 patients who underwent cholecystectomy for gallstones at the First Affiliated Hospital of Soochow University were collected as the control group ( n=21), including 9 males and 12 females, with an age of 32.2 (23.8, 48.3) years. The expression of tight junction-related proteins pMLC, CPI17, PP1C, and MYPT1 in the PBM group and the control group was analyzed by immunohistochemical staining combined score. Western blot was used to detect the protein expression of MYPT1, PP1C, MLC, pCPI17, CPI17, and pMYPT1 in the PBM group and the control group. Results:The immunohistochemical staining combined score showed that the expression of pMLC protein in the PBM group was higher than that in the control group, while the expression of MYPT1, CPI17, and PP1C proteins was lower than that in the control group, and the differences were statistically significant (all P<0.05). The Western blot detection results showed that the expression values of pMYPT1 (Thr696), pCPI17 (Thr38), MLC, CPI17, MYPT1, and PP1C proteins in the PBM group were (1.187±0.140), (0.455±0.038), (0.181±0.013), (0.246±0.016), (0.459±0.054), and (0.202±0.032), respectively, while those in the control group were (0.238±0.048), (0.144±0.025), (3.268±0.278), (1.462±0.214), (1.138±0.189), and (0.853±0.120), respectively. The expression of MLC, CPI17, MYPT1, and PP1C proteins in the PBM group was lower than that in the control group, while the expression of pMYPT1 and pCPI17 proteins was higher than that in the control group, and the differences were statistically significant (all P<0.05). Conclusion:The increased expression of pMYPT1 and pCPI17 and the decreased expression of PP1C in children with PBM may be related to the disruption of tight junctions in the biliary epithelium of these children.

Objective To select important features for the differentiation of growth hormone deficiency(GHD)and idiopathic short stature(ISS)by analyzing the clinical and imaging features in patients with short stature.Methods The clinical data and pituitary MRI images of 139 children with short stature were analyzed retrospectively.According to the growth hormone(GH)stimulation test,a peak GH level＜10 ng/mL was considered GHD group,while≥ 10 ng/mL was ISS group.Independent sample t-test,x2 test,and Mann-Whitney U test were used to compare the differences between the two groups.The indicators with statistically significant differences between the two groups were included in a binary logistic regression analysis to identify independent factors that differentiate GHD from ISS.Additionally,the receiver operating characteristic(ROC)curve was used to assess the diagnostic efficacy.Partial correlation analysis was performed to evaluate the association between adenohypophysis volume(aPV)and peak GH.Results Body mass index(BMI)was significantly higher in the GHD group than that in the ISS group,while free triiodothyronine(FT3),adenohypophysis height(aPH),and aPV were significantly lower than those in the ISS group(P＜0.05).Binary logistic regression analysis results showed that aPV[odds ratio(OR)=0.984,95％confidence interval(CI)0.974-0.994,P=0.002],BMI(OR=1.835,95％CI 1.377-2.446,P＜0.001),FT3(OR=0.249,95％CI 0.075-0.828,P=0.023)were independent factors in differentiating GHD and ISS.The area under the curve(AUC)of the combined differential diagnostic for these three indicators were 0.929(0.873-0.966),with a sensitivity of 89.47％and a specificity of 92.08％.Partial correlation analysis results showed that aPV was positively correlated with peak GH(r=0.300,P＜0.001).Conclusion The assessment of aPV by pituitary MRI,combined with clinical indicators,can be a useful method to differentiate between GHD and ISS.

Objective:To analyze the expression of myosin light chain phosphatase target subunit-1 (MYPT1), protein kinase C-activated phosphatase inhibitor 17 (CPI17), and protein phosphatase 1 catalytic subunit (PP1C) in the biliary epithelium of children with pancreaticobiliary maljunction (PBM).Methods:A total of 22 children with PBM and biliary dilatation from the Children's Hospital of Soochow University from March 2015 to December 2017 were collected as the PBM group ( n=22), including 8 males and 14 females, with an age of 4.2 (2.8, 6.3) years. 21 patients who underwent cholecystectomy for gallstones at the First Affiliated Hospital of Soochow University were collected as the control group ( n=21), including 9 males and 12 females, with an age of 32.2 (23.8, 48.3) years. The expression of tight junction-related proteins pMLC, CPI17, PP1C, and MYPT1 in the PBM group and the control group was analyzed by immunohistochemical staining combined score. Western blot was used to detect the protein expression of MYPT1, PP1C, MLC, pCPI17, CPI17, and pMYPT1 in the PBM group and the control group. Results:The immunohistochemical staining combined score showed that the expression of pMLC protein in the PBM group was higher than that in the control group, while the expression of MYPT1, CPI17, and PP1C proteins was lower than that in the control group, and the differences were statistically significant (all P<0.05). The Western blot detection results showed that the expression values of pMYPT1 (Thr696), pCPI17 (Thr38), MLC, CPI17, MYPT1, and PP1C proteins in the PBM group were (1.187±0.140), (0.455±0.038), (0.181±0.013), (0.246±0.016), (0.459±0.054), and (0.202±0.032), respectively, while those in the control group were (0.238±0.048), (0.144±0.025), (3.268±0.278), (1.462±0.214), (1.138±0.189), and (0.853±0.120), respectively. The expression of MLC, CPI17, MYPT1, and PP1C proteins in the PBM group was lower than that in the control group, while the expression of pMYPT1 and pCPI17 proteins was higher than that in the control group, and the differences were statistically significant (all P<0.05). Conclusion:The increased expression of pMYPT1 and pCPI17 and the decreased expression of PP1C in children with PBM may be related to the disruption of tight junctions in the biliary epithelium of these children.

Objective To select important features for the differentiation of growth hormone deficiency(GHD)and idiopathic short stature(ISS)by analyzing the clinical and imaging features in patients with short stature.Methods The clinical data and pituitary MRI images of 139 children with short stature were analyzed retrospectively.According to the growth hormone(GH)stimulation test,a peak GH level＜10 ng/mL was considered GHD group,while≥ 10 ng/mL was ISS group.Independent sample t-test,x2 test,and Mann-Whitney U test were used to compare the differences between the two groups.The indicators with statistically significant differences between the two groups were included in a binary logistic regression analysis to identify independent factors that differentiate GHD from ISS.Additionally,the receiver operating characteristic(ROC)curve was used to assess the diagnostic efficacy.Partial correlation analysis was performed to evaluate the association between adenohypophysis volume(aPV)and peak GH.Results Body mass index(BMI)was significantly higher in the GHD group than that in the ISS group,while free triiodothyronine(FT3),adenohypophysis height(aPH),and aPV were significantly lower than those in the ISS group(P＜0.05).Binary logistic regression analysis results showed that aPV[odds ratio(OR)=0.984,95％confidence interval(CI)0.974-0.994,P=0.002],BMI(OR=1.835,95％CI 1.377-2.446,P＜0.001),FT3(OR=0.249,95％CI 0.075-0.828,P=0.023)were independent factors in differentiating GHD and ISS.The area under the curve(AUC)of the combined differential diagnostic for these three indicators were 0.929(0.873-0.966),with a sensitivity of 89.47％and a specificity of 92.08％.Partial correlation analysis results showed that aPV was positively correlated with peak GH(r=0.300,P＜0.001).Conclusion The assessment of aPV by pituitary MRI,combined with clinical indicators,can be a useful method to differentiate between GHD and ISS.

Objective To investigate the molecular genetic characteristics and clinical characteristics of severe combined immunodeficiency(SCID)in children caused by a novel mutation of interleukin 2 receptor gamma IL-2RG gene.Methods The clinical data,laboratory results and genetic testing data of a child with SCID admitted to the Department of Children's Hematology of Northwest Women and Children's Hospital were analyzed.Results A two-month-old male infant was admitted to the hospital for treatment due to recurrent infections after birth.The child's blood routine results showed that the total number of white blood cells was normal,but lymphocytes were decreased.The lymphocyte subpopulation results showed a significant decrease in the proportion of total T(CD3+),helper T(CD3+CD4+),killer T(CD3+CD8+),and NK(CD3-CD16+CD56+)lymphocytes,while the proportion of B(CD3-CD19+)lymphocytes were increased.The immunoglobulin levels showed a significant decrease in IgG,and IgM and IgA were below the lower detection limit.The patient's cytokine levels did not significantly increase during infection.In the last three generations of the mother's family,9 males died of infection within one year after birth.The whole exome sequencing results of the core family revealed a semi zygous new missense mutation[c.675 C＞A,p.S225R(p.Ser225Arg)]in the IL-2RG gene on the X chromosome(chrX:70329160)of the patient,and the mother was a carrier.Based on the above evidence,the child was diagnosed with X-SCID.Subsequently,intravenous immunoglobulin was injected monthly,and routine antibiotics and antiviral drugs were taken to prevent infection,preparing for hematopoietic stem cell transplantation.Because the child was vaccinated with BCG after birth,the child developed disseminated BCG disease at the age of 6 months.After treatment,hematopoietic stem cell transplantation was performed.Conclusion The immune function of the X-SCID patient was severely compromised,which endangered the patient's life,and vaccination with live vaccines may lead to severe infections.This study found that the c.675 C＞A mutation of the IL-2RG gene was a novel pathogenic variation of the genetic cause of X-SCID,expanding the mutation spectrum of the X-SCID pathogenic gene IL-2RG.

Objective: To investigate the effects of preoperative percutaneous transhepatic biliary drainage on surgical treatment of type Ⅲ and Ⅳ hilar cholangiocarcinoma. Methods: Clinical data of 72 patients with hilar cholangiocarcinoma of the Bismuth-Corlette type Ⅲ and Ⅳ treated at Department of General Surgery,First Affiliated Hospital of Bengbu Medical College from January 2010 to December 2017 were analyzed retrospectively.Patients were divided into two groups based on whether PTBD was performed:a drained group and an undrained group.In the drained group,there were 31 patients,20 males and 11 females,aged (59.9±9.7)years (range: 39-73 years).Among them,14 patients underwent hepatectomy with half or more than half of the liver removed (extended hepatectomy)and 17 patients underwent non-anatomical hepatectomy in the hilar region (limited hepatectomy).In the undrained group,there were 41 patients, 26 males and 15 females, aged (60.8±7.8)years(range: 45-75 years).Among them, 17 patients underwent hepatectomy with half or more than half of the liver removed (extended hepatectomy)and 24 patients underwent non-anatomical hepatectomy in the hilar region (limited hepatectomy).Percutaneous transhepatic biliary drainage(PTBD)was used in the drained group.Under the guidance of ultrasound,one or more hepatobiliary ducts could be sufficiently drained,which had good effect and was not restricted by the obstruction location of hilar cholangiocarcinoma.The analysis of the measurement data was performed using t test,and the analysis of the count data was performed using χ² test,and the survival curve was plotted using Kaplan-meier method. Results: In total, 72 jaundiced patients with hilar cholangiocarcinoma underwent surgical treatment: 31 had PTBD prior to operation while 41 did not had PTBD.There were significant differences in ALT((93.2±21.4)U/L vs.(207.4±65.1)U/L),AST((87.6±18.1)U/L vs.(188.9±56.6)U/L)and total bilirubin((68.8±12.6)μmol/L vs.(227.5±87.7)μmol/L)between the patients after treatment and those before treatment(t=10.958, P=0.000; t=10.845, P=0.000; t=10.386, P=0.000).Compared with those in the undrained group, the operation time was shorter, the amount of intraoperative bleeding and the incidence of complications were lower in the drained group(t=-2.840, P=0.006; t=-3.698, P=0.000; χ²=4.108, P=0.043).There were no perioperative death cases in drained group and 2 perioperative death cases in undrained group.There was no significant difference in R0 resection rate between the two groups(χ²=0.778,P=0.378).The 1-,3-,5-year survival rate of patients in the drained group and the undrained group was 72.7%,34.2%, 13.7% and 72.8%, 31.5%, 11.8%, respectively.The difference was not statistically significant(all P>0.05). Conclusions The preoperative percutaneous transhepatic biliary drainage in patients with hilar cholangiocarcinoma of Bismuth-Corlette type Ⅲ and Ⅳ could effectively shorten operative time, reduce amount of intraoperative bleeding and incidence of postoperative complications,but have no significant effect on the R0 resection rate and survival rate.

Objective:To investigate the clinical efficacy of extended hepatectomy for hilar cholangiocarcinoma (HCCA) of Bismuth-Cor-lette typesⅢandⅣ(the longitudinal invasion degree along the biliary system is the main criteria). Methods:The clinical data of 61 patients with HCCA of Bismuth-Corlette types III and IV admitted in the Department of Hepatobiliary Surgery of the First Affiliated Hos-pital of Bengbu Medical College from January 2008 to May 2015 were analyzed retrospectively. Among the 61 cases, 22 underwent hepatectomy with half or over half of the liver removed or hepatic caudate lobectomy (regarded as the extended hepatectomy group), whereas 39 cases underwent irregular hepatectomy on the hepatic hilar region (regarded as the limited hepatectomy group). Results:Compared with those in the limited hepatectomy group, the patients in the extended hepatectomy group underwent longer duration of operation and experienced more bleeding during the procedure. The complication incidence rate for the extended hepatectomy group was lower than that for the limited hepatectomy group. No patient died during the perioperative period in the extended hepa-tectomy group, whereas two patients died in the limited hepatectomy group. Moreover, R0 resection was performed on 21 cases in the extended hepatectomy group, with a resection rate of (21/22) 95.5%, and on 20 cases in the limited hepatectomy group (P<0.05), with a resection rate of (20/39) 51.3%. Actuarial 1-, 3-, and 5-year survival rates were 77.27%, 36.36%, and 13.64%, respectively, in the extended hepatectomy group, and 69.23%, 20.51%, and 1.64%, respectively, in the limited hepatectomy group (P<0.05). Conclusion:Extended hepatectomy for patients with HCCA of Bismuth-Corlette typesⅢandⅣcould effectively increase the resection rates of R0 and the survival rate. Meanwhile, the prognosis of patients could be improved.

PurposeTo investigate the clinical value of inverted X-ray plain film and MRI examination in the diagnosis of congenital anorectal malformation (CARM). Materials and Methods Thirty-eight cases with operatively proved anorectal malformation were reviewed; inverted X-ray plain film and MRI examination were performed in all patients before surgery. The relationship between the rectum blind side and pubococcygeal line (PC line), and the type of anal atresia was determined, to compare the diagnostic accuracy of inverted plain film with MRI for CARM typing. Results Of all the 38 cases, 19 cases were with low imperforate anus, 8 cases with median imperforate anus, and 11 cases with high imperforate anus. The accuracy rate of inverted X-ray plain film and MRI examination for the diagnosis of CARM typing was 92.1% (35/38) and 97.4% (37/38) respectively, and the difference between them was not statistically significant (χ2=1.37, P>0.05). 7 cases of fistula, 5 cases of spinal cord malformations and 1 case of right kidney agenesis can be clearly demonstrated on MRI. Conclusion Both inverted X-ray plain film and MRI can diagnose the typing of CARM accurately, but MRI is also able to diagnose the fistula, visceral, spinal cord lesion and other abnormalities accompanied with CARM, while reducing the dose of X-ray radiation and damage in children, thus has higher clinical application value compared with inverted X-ray plain film.

OBJECTIVETo investigate the clinical value of MRI examination in congenital anorectal malformation (CARM).

METHODForty-four cases with operatively proved anorectal malformation from May 2008 to May 2012 in the authors' hospital were reviewed. Of the 44 cases, 25 were males and 19 females, their age ranged from 1 day to 2 years. MRI was performed in all patients.

RESULTOf all 44 cases, 15 cases had high imperforate anus (34%), rectum blind end were above PC line, the distance of rectum blind end and anus nest was (29.12 ± 2.35) mm; 8 cases had median imperforate anus (18%), rectum blind ends were near PC line, the distance of rectum blind end and anus nest was (18.98 ± 2.21) mm; 21 cases had low imperforate anus (48%), rectum blind ends were below PC line, the distance of rectum blind end and anus nest was (7.54 ± 1.08) mm. Twenty-five cases with fistula in 44 cases were confirmed by rectal angiography and surgery, accounting for 57%. In 13 cases with fistula, the lesion could be clearly demonstrated on MRI, in the remaining 12 cases with fistula, the lesion could not be visualized clearly or no image development occurred on MRI. Of all 44 cases, 1 case had tethered cord with filum terminale lipoma, 1 case had tethered cord, 2 cases had syringomyelia, 1 case had right kidney agenesis, 1 case had hydrocele. In 44 cases of multi-planar MRI imaging could clearly show the perianal muscles developmental situation, 36 cases had perianal muscles dysplasia, amd showed levator ani muscle, puborectalis and anal sphincter asymmetry, muscle belly slim.

CONCLUSIONMRI examination has a high clinical value in CARM diagnosis, can help accurately judge the anal atresia type, display the presence and running of most of the fistula, and diagnose perianal muscle development and other systems malformations, finally provide a reliable diagnostic basis for surgical program and prognostic assessment.

Abnormalities, Multiple ; Anal Canal ; abnormalities ; surgery ; Anus, Imperforate ; complications ; diagnosis ; surgery ; Child, Preschool ; Female ; Fistula ; epidemiology ; etiology ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Perineum ; pathology ; Rectum ; abnormalities ; surgery ; Retrospective Studies ; Urinary Fistula ; epidemiology ; etiology

Objective To investigate the diagnostic value of MRI in the infantile developmental dislocation of the hip.Methods Forty-five cases of preoperative hip MRI data of DDH (patient group)and 40 cases of normal hip (control group)MRI data were retrospectively analyzed.Three types were classified according to the standard of Dunn.Then the bony acetabular index (BAI),cartilaginous acetabular index (CAI)were measured on coronal MRI and all the intra-articular structures (articular cartilage,labrum, teres ligament and iliopsoas)in the acetabulum that impeded the reduction of the femoral head were observed.Results There were normal hips (80 hips)and dislocated hips (73 hips).In dislocated hips typeⅠ (30 hips),typeⅡ (20 hips),and typeⅢ (23 hips) were found.The values of BAI were (26.13±2.19)°and (35.87±4.42)°,CAI (13.84±1.07)°and (21.92±4.70)°for patient group and control group.The values of BAI were (31.80±1.74)°,(37.80±3.40)°and (39.17±4.11)°,CAI (17.20±2.68)°,(20.91±2.02)°and (27.50±2.78)°for the typesⅠ,Ⅱ,Ⅲ respectively.Differences of BAI and CAI between patient group and control group were showed (t=-11.048 and -9.188,P =0.000).Statistically significants were found among the typeⅠ,Ⅱ,Ⅲ(F=22.159 and 47.241,P =0.000).There were linear correlations for patient group ,control group,and the typeⅠ,Ⅱ,Ⅲ (r= 0.964,0.844,0.953,0.931 and 0.870,P =0.000).Some pathological changes such as varus labrum,thick teres ligament,iliopsoas spasm,articular cartilage hyperplasia,fat hyperplasia,joint effusion were observed in the type Ⅱand Ⅲ.Conclusion MRI is not only used for measuring the values of BAI and CAI,and a linear correlation among all kinds of DDH,but also some factors hindering the reduction of the femoral head can be found clearly.It can provide an important reference basis for the diagnosis and treatment of DDH.