Objectives: To compare the effect of different fat emulsions on the blood lipid and liver function in neonates with hepatic dysfunction. Methods:40 babies with hyperbilirubinemia(≥51.3 mmol/L) were randomly divided into two groups ,receiving the fat emulsion of 20% Intralipid (LCT group) or 20% Lipofundin (MCT/LCT group) at the dose of 2.0 g/(kg?d) for 7 days. Blood lipid 〔total cholesterol(TC), triglyceride(TG)〕 and the serum biochemical indexes relative to liver function were measured before and after the period of 7 days. Results:The levels of TC did not change remarkably in two groups. There was significant difference in the levels of TG between the two groups after the study period (1.87?0.3 mmol/L in LCT group and 1.15?0.27 mmol/L in MCT/LCT group, t =7.833, P

Objective Congenital nephrogenic diabetes insipidus (CNDI) is a rare disease, the aim of this article is to help better understanding of this disease. Methods The clinical features, genetic analysis and treatments of two siblings with CNDI were retrospectively analyzed, and related literatures were reviewed. Results Both brothers had polydispia, polyuria and low concentrate urine continuously, and they both had a mutation in AQP 2 conifrmmed with Sanger sequencing. This novel frame shift mutation caused arginine of 254 to histidine, and prolonged AQP 2 protein. Conclusions Gene analysis can help diagnosis of CNDI. Amiloride is useful option for treatment.

OBJECTIVETo investigate the capability of semi-quantitative and quantitative parameters of dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) to predict the response to concurrent chemoradiotherapy( CCRT) in patients with non-small cell lung cancer (NSCLC).

METHODSA total of 24 patients with stage III or IIIB NSCLC, who underwent 3.0T DCE-MRI before CCRT, were enrolled in this study. Semi-quantitative and quantitative parameters were calculated by Funtool and Omnikinetics software. The relationship between these obtained parameters and tumor response was evaluated by Spearmen' s correlation analysis. The patients were classified into two groups according to the tumor regression rate after treatment, as response group (group A) and non-response group ( group B). Mann-Whitney U test was used to compare the parameters of responders and non-responders. The value of the parameters on predicting response was calculated by receiver operating characteristic curve (ROC).

RESULTSThe tumor regression rate after treatment was negatively correlated with time to peak (TTP) and the extravascular-extracellular volume fraction (Ve), and was positively correlated with signal enhancement ratio (SERmax) and volume transfer constant (Ktrans) (P < 0.05 for all). Statistical significant differences were found between group A and group B both in semi-quantitative and quantitative parameters (P < 0.05). Group A had a lower TTP value [(34.66 ± 16.37) s vs. (44.09 ± 17.41) s] and Ve value [(0.19 ± 0.03) vs. (0.25 ± 0.05)] than group B, whereas group A had a higher SERmax [(166.50 ± 44.95)% vs. (113.57 ± 46.62)%] and Ktrans [(0.41 ± 0.17) min(-1) vs. (0.28 ± 0.12) min(-1)] than group B (P < 0.05 for all). The ROC analysis indicated that when setting the threshold of Ve on ≤ 0.21 for predicting response, the specificity, sensitivity and accuracy were 85.7%, 80.0% and 83.3%, respectively, with an area under curve of 0.875 (P < 0.001).

CONCLUSIONSBoth the semi-quantitative and quantitative DCE-MRI parameters are helpful for predicting the response after CCRT of NSCLC. Quantitative parameters seem to be more meaningful than semi-quantitative parameters.

Carcinoma, Non-Small-Cell Lung ; pathology ; therapy ; Chemoradiotherapy ; methods ; Contrast Media ; Humans ; Lung Neoplasms ; pathology ; therapy ; Magnetic Resonance Imaging ; methods ; ROC Curve ; Remission Induction ; Sensitivity and Specificity ; Time Factors

Objective To report clinical characteristics and genetic results of two sisters suffered from congenital adrenal cortex hyperplasia (17-α-hydroxylase deficiency), and relevant literatures were reviewed. Methods Clinical manifestation and laboratory examination data of two sister cases of 17-α-hydroxylase deficiency enrolled in Capital Institute of Pediatrics in March 2016 were analyzed. Sanger sequencing and MLPA for CYP17A1 genes were performed and the parents' genes were also verified. Results The two patients were four years and 10 years old, both suffered from hypokalemia after infections, and hypergonadotrophin gonad hypofunction. One case was with slightly high blood pressure. Laboratory test results showed potassium fluctuation tendency in 1.9~4.0 mmol/L, 17-OHP and DHEA was decreased. Enhanced CT showed different degree of adrenal gland enlargement. Chromosome examination of the older sister is 46, XY. Both sisters demonstrated heterozygous mutation of CYP17A1 gene. The molecular genetic analysis suggested a c.985_987delTACinsAA from father and a deletion spanning exons 1-7 of the CYP17A1 gene from mother. Conclusion 17-α-hydroxylase enzyme deficiency can be diagnosed before adolescence. Clinical hypokalemia with unknown reason and high blood pressure may indicate the disease. The diagnosis can be confirmed with gene sequencing of CYP17A1.

Objective To screen the 5 EV71 vaccine candidates which were isolated from MRC-5 cells to find one as the vaccine virus. Methods The ICR mother mouse were immunized by intraperitoneal injection with the 5 vaccine candidates which were made from monoclonal EV71 virus. Two weeks after booster immunization, the animals were allowed to mate, another booster was given after 2 weeks, and then attracted the milk mouse within 24 h with different types of virus by cranial cavity injection. The survival condition were recorded everyday, and the antibody titre(IgG) were detected by ELISA, the virus titre of intestine were detected by nest-PCR, and neutralizing antibodies were determined using a microassay with MRC-5 cells, and then the data were analyzed by SPSS16.0. Results The antibody titre of 5 virus immunized ICR mouse were improved with the increase in the immune times, and they got difference in neutralization capacity, the survival rate after fatal attract and the virus titre of the intestine. Conclusion It proved that the five vaccine candidates were different at the molecular level, cellular level and individual level. 123 strain was the best one in immunogenicity and immunoprotective property, which agreed with the vaccine requirement.

Objective To analyze and summarize the imaging features of hepatic epithelioid hemangioendothelioma (EHE).Methods The retrospective and descriptive study was conducted.The clinicopathological data of 9 patients with EHE who were admitted to the Cancer Hospital of Chinese Academy of Medical Sciences between June 2012 and June 2016 were collected.Patients underwent computed tomography (CT) and magnetic resonance imaging (MRI) examinations.Number,size,location,shape,density or signal and enhancement method of lesions,with or without lesions fusion and relationship between lesions and vessels were analyzed by 2 imaging doctors.Lesions in left lobe of liver,right lobe of liver and caudate lobe of liver were respectively counted.Real number was a standard as less than 5 lesions and more than or equal to 5 lesions was represented as ≥ 5.Observation indicators:(1) overall imaging features of EHE;(2) MRI findings of EHE;(3) CT findings of EHE;(4) treatment and pathological features of EHE and results of follow-up.Patients received the corresponding treatment after imaging examinations.Follow-up using outpatient imaging examinations was performed to detect tumor recurrence and stable condition of patients up to December 2016.Results (1) Overall imaging features of EHE:of 9 patients with EHE,6 received plain and enhanced scans of MRI,3 received plain and enhanced scans of CT (1 combined with MRI),1 received enhanced scan of CT.Lesions in right lobe of liver were more than that in left lobe of liver,and there were fewest lesions in caudate lobe of liver.Lesions were round or similar-round shape,with a maximum diameter of 2.5-6.1 cm and an average diameter of 3.6 cm.Four patients had total 2-5 lesions and less than 5 lesions in each lobe of liver,without lesions fusion,including 1 with halo sign and capsule retraction sign and 1 with halo sign.Of other 5 patients,2 had more than or equal to 5 lesions in each lobe of liver and 3 had more than or equal to 5 lesions in 2 lobes of liver;4 had halo sign,lollipop sign,capsule retraction sign and a tendency of lesions fusion,1 had halo sign and capsule retraction sign.The halo sign,lollipop sign,capsule retraction sign and a tendency of lesions fusion were 7/9,4/9,6/9 and 4/9 in 9 patients,respectively.(2) MRI findings of EHE:6 patients received plain and enhanced scans of MRI.① Four patients had clearhalo sign on T2 weighted imaging (T2WI),in portal vein phase and hepatobiliary phase.Three patients had slightly central hyperintensity and thick ring of slightly peripheral hyperintensity on T2WI.There were slightly central hyperintensity and thin ring of slightly peripheral hypointensity in 1 patient,and the halo sign was seen by enhanced scan.There were central hyperintensity and peripheral hypointensity in 2 patients,and the halo signs were clearly seen in hepatobiliary phase.Some patients were combined with multiple manifestations.② There were no obvious halo sign on T2WI,annular enhancement in arterial phase by enhanced scan,no obvious halo sign in portal vein phase and hepatobiliary phase in 2 patients.There were hypointensity on T1WI and isointensity-hyperintensity on DWI in 6 patients.(3) CT findings of EHE:plain scan of CT in 4 patients showed slightly hypodense shadow,without calcification.Enhanced scan of CT in 3 patients showed that obvious halo-like enhancement was seen in portal vein phase and halo rings were less obvious than that by MRI examination.(4) Treatment and pathological features of EHE and results of follow-up:of 9 patients with EHE,4 underwent surgical resection based on lesions ≤5 and surgical specimens were detected by pathological examination,5 underwent interventional treatment and pathologic examination with biopsy.Gross specimen examination showed that lesions were solid and stiff,with greyish white section plane and infiltrative margin.Tumor cells consisted of epithelioid cells under the microscopy,without atypia and with rare mitotic figures,and vacuoles were seen in cytoplasm.Immunohistochemistry showed CD31 and CD34 were positive.Nine patients were followed up for 6-54 months.During the follow-up,4 patients with surgery had no recurrence and 5 patients with interventional therapy remained stable condition.Conclusions Imaging manifestations of hepatic EHE are the more typical when lesions of EHE became more.Hepatic EHE has a tendency of lesion fusion,halo sign,capsule retraction sign and lollipop sign.Imaging manifestations on T2WI with fat suppression,in portal vein phase and hepatobiliary phase are helpful to improve the diagnosis of hepatic EHE.

Objective A 10-years-old girl with Schimke immuno-osseous dysplasia ( SIOD ) was reported and a literature review presented to provide clinical and genetic information of this rare disease. Methods Retrospective analysis of a case of SIOD in Capital Institute of Pediatrics was reported. The patient and her parents' DNA were extracted from blood for detecting SMARCALl gene mutation. Literatures of the disease were reviewed. Results The patient was a ten-years-old girl who admitted because of slow growth in height for 3 years. Herstaturewas123cm(T(p.Q149X)andc.1933C>T(p.R645C)compound heterozygous mutation. A novel nonsense c.445C>T(p. Q149X)was found. One reported missense mutations c. 1933C>T(p. R645C) was detected. We reviewed literatures and found that there were 4 confirmed cases in China including this one. All the 4 cases had the characteristic of short stature, special facial features, osseous dysplasia, pigmentations in body, and proteinuria. However the severity of the disease and genetic changes are not the same. Conclusion When a patient was admitted because of short stature, diagnosis of SIOD should be suspected if he or she also had special facial feature, osseous dysplasia, café-au-lait spots, and proteinuria. Gene test is a tool to help us to make a definite diagnosis of SIOD.

Objective To analyze the genetic changes and detailed clinical presentations of 5 maturity-onset diabetes of the young (MODY) cases in order to enhance the knowledge about MODY in children.Methods Seventy-eight patients initially diagnosed as diabetes mellitus between January 1 and December 31,2015 in Capital Institute of Pediatrics were retrospectively studied.Nine of them were suspected of MODY,and 5 patients were diagnosed as MODY through gene test.Clinical informations were collected including age,gender,main complaint,family history,body mass index (BMI),fasting blood glucose,fasting blood insulin,2-hour blood glucose and insulin after oral glucose tolerance test and glycosylated hemoglobin.The blood glucose was monitored dynamically in 2 patients.Targeted capture panel was designed to capture the 16 genes related to MODY,including 12 genes from MODY1 to MODY13 type and 4 genes with weak evidence of MODY according to Human Gene Mutation Database Exome capture,and Next-Generation sequencing on a HiSeq2000 (Illumina) was performed.After bioinformatics analysis,all prioritized variants detected in patients were validated by Sanger sequencing,including the probands and their parents.Results Five patients were confirmed as MODY by molecular diagnosis,accounting for 6.4％ of all the 78 patients in 2015.The ratio of male to female was 2 ∶ 3.The ages at diagnosis ranged from 2 to 11 years old,and the median age was 3 years old.Two cases were found to have abnormal blood glucose in physical examination.The rest 3 cases were discovered with abnormal blood glucose during hospitalization because of pneumonia (1 case)or diarrhea (2 cases).In 4 cases,their mothers had gestational diabetes history,in 1 case the father suffering from diabetes.BMI ranged 15.68-23.40 kg/m2.Fasting blood glucose was 6.3-7.2 mmol/L.Fasting blood insulin was 0.5-8.0 IU/L.Glucose tolerance test results showed that blood glucose of the patients was 8.6-10.8 mmol/L after 2 hours.The level of glycosylated hemoglobin was 5.5％-6.7％.Blood glucose was 3.9-13.0 mmol/L.All the 5 confirmed patients were caused by GCK gene mutation (MODY2 type).The mutations detected were located at Exon7 (2 cases),Exon4 (1 case),Exon5 (1 case),and Exon10 (1 case).Conclusions All the confirmed MODY patients were identified either through medical exam or infectious disease,and all had positive family history.Their BMI ranged widely.Fasting blood glucose was slightly elevated and glycosylated hemoglobin was normal or slightly elevated,but fasting blood insulin was normal in all the patients.Abnormal glucose tolerance test results were found in all 5 patients.Glycosylated hemoglobin was normal or slightly elevated.MODY2 was the only subtype detected in this group,which indicated that the common type in children was different from that in adults.

Objective To analyze the clinical characteristics and mutation of SLC26A3 gene of a patient with congenital chloride diarrhea in order to deepen the understanding of the disease.Methods The clinical data of the patient who was admitted in Affiliated Hospital of Capital Pediatric Institute in June 2014 were collected.Venous blood of the proband and his parents (2 mL for each) had been extracted for genomic DNA isolation.The 21 exons of SLC26A3 gene were amplified with polymerase chain reaction and screened for mutations by sequencing.Results The main clinical features of the patient included polyhydramnios,preterm,normal birth weight,watery diarrhea,low weight and severe electrolyte disturbances with hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis.Renin angiotensin and aldosterone were high.His urine chloride concentration was low and fecal chloride concentration was high (＞ 90mmol/L).After oral salt substitution therapy with KCl and NaCl [3 mmol/(kg · d),4 mmol/(kg · d)],the electrolyte was better,alkalosis was alleviated,and growth and development were improved.The gene analysis revealed that the patient carried nt1631T ＞ A homozygous mutation on exon 15 which lead to Ile544Asn mutation in the predicted SLC26A3 transmembrane protein sequence,which was considered to be responsible for the functional abnormality of the Cl-/HCO3-protein.His parents were carriers of SLC26A3 gene and their clinical phenotype was normal.Conclusions Congenital chloride diarrhea is a rare autosomal recessive disorder and easily misdiagnosed.The patient of early postnatal diarrhea with persistent hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis should be thought about this disease.Genetic analysis can help make the diagnosis.The prognosis is good if a patient has an early diagnosis and appropriate management.

Objective To investigate the therapeutic effect of modified transperitoneal laparoscopic dismembered pyeloplasty in children with with ureteropelvic junction obstruction (UPJO).Methods The clinical data of 27 children with UPJO treated with transperitoneal laparoscopic dismembered pyeloplasty were analyzed retrospectively.The age ranged from 5 to 104 months (mean,37 months).All cases were diagnosed by ultrasonography,IVU,CT and/or renal radionuclide scanning.The antero-posterior pelvic diameter was more than 3 cm by ultrasound in all cases.Indications of surgery were as followings:symptoms of upper abdominal pain or low back pain and/or split renal function ＜40％ and/or progressive dilatation.Modified transperitoneal laparoscopic dismembered pyeloplasty was performed.Double hitch stitches were transfixed at the top of pelvis and ureter to be anastomosed,and a 6 F urethral catheter was inserted as a ureteral stent percutaneously through the puncture hole and was removed 7-9 days postoperatively without double-J stent.Results All operations were completed laparoscopically without conversion to open surgery.The mean operative time was 118 min (range,85 to 176),the mean blood loss was 16 ml (range,10 to 30) and the mean postoperative hospital stay was 10.5 days (range 9 to 13).The perinephric urine drainage occurred in 2 patients with about 200 ml/d,and reduced to 6 ml/d and 4 ml/d 5 to 6 days after operation.During the follow-up period for 12 to 36 months(mean,22 months) in 27 cases,there was no stricture at UPJ and the hydronephrosis reduced significantly or disappeared.Conclusion Laparoscopic dismembered pyeloplasty with double hitch stitches and an ordinary urethral catheter as an ureteral stent is an easy method with high successful rate and less operative time,which avoids reoperation to remove the double-J stent and is worthy of clinical popularization.