OBJECTIVE:To provide reference and evidence for rational use of clinical nutrition. METHODS:The types of en-teral and parenteral nutrition and the cost of prescription were analyzed statistically in 17 third grade class A general hospitals,3 third grade class A special hospitals and 14 secondary general hospitals from Shanghai area during 2011 to 2013. RESULTS:Nutri-tion preparations were mainly used by hospitalized patients. Total cost of nutrition preparations in outpatient and emergency depart-ment respectively occupied 8.14%,8.77% and 8.89% of total cost of nutrition preparations in the hospital during 2011-2013. The parenteral nutrition was the main form of nutritional support. There were only three kinds of enteral nutrition in top ten nutrition preparations in the list of prescription cost. Although seven out of ten kinds of nutrition preparations were given enterally which was the main mode for outpatients and emergency patients,the cost of prescriptions of parenteral nutrition increased faster compared to enteral nutrition,especially alanyl-glutamine. CONCLUSIONS:Parenteral nutrition is the main mode of nutrition support,especial-ly for inpatients;great attention should be paid to the increase of the cost of prescriptions about parenteral nutrition in outpatients and emergency patients.

Animals ; Female ; Gangliosides ; pharmacology ; Hippocampus ; enzymology ; physiopathology ; Lead ; toxicity ; Learning ; drug effects ; Male ; Memory ; drug effects ; Nitric Oxide Synthase ; biosynthesis ; Random Allocation ; Rats ; Rats, Sprague-Dawley

Objective To assess the therapeutic outcomes of transcatheter arterial chemoembolization combined with percutaneous injection of chemoembolization agent intra-portal vein tumor thrombosis for primary hepatic carcinoma accompanied by portal vein tumor thrombus. Methods Thirty patients with primary hepatic carcinoma accompanied by portal vein tumor thrombosis of type Ⅱ and type Ⅲ were randomly divided into two groups. The Child-Pugh ratings (class A and B) of group A and B were 9 vs 9 (class A) and 5 vs 7 (class B) respectively (χ~2 = 0.201, P > 0.05). The constitution of Type Ⅱ and type Ⅲ portal vein tumor thrombus in group A and B were 8 vs 9 and 6 vs 7 respectively (χ~2 =0.002, P>0.05). The median values of ALT, TBIL, ALB and AFP in group A and B were 58.7U/L vs 70.5 U/L (W=191.5, P>0.05), 21.4 μmol/L vs 21.7μmol/L (W=203, P>0.05), 35.3 g/L vs 37.5 g/L (W = 214, P > 0.05) and 680 μg/L vs 873 μg/L (W = 179. 00, P > 0.05) respectively. Group A was treated with transcatheter arterial chemoembolization (TACE) using emulsion made up of adriamycin, cisplatin, mitomycin and ultraliquidlipiodol plus percutaneous injection of chemoembolization agent intra-portal vein tumor thrombosis using emulsion consisted of cisplatin and ultraliquidlipiadol, while group B was treated with TACE only as a control group. Survival analyses were performed via the Kaplan-Meier test in SPSS11.5 with the log-rank tests with an threshold of 0.05. Results The 3, 6 and 12 months survival cases of group A and B were 11 vs 10, 10 vs 3, and 7 vs 0 respectively. The median survival time of group A and group B were 14.0 months and 4.0 months respectively. The difference of the two groups was significantly (χ~2 =11.728, P<0.01). There was no severe side-effect related to therapy in both groups. Conclusion Comparing with the control group, TACE combined with percutaneous injection of chemoembolization agent intra-portal vein tumor thrombosis could significantly prolong the median survival time of patient with primary hepatic carcinoma accompanied by type Ⅱ and type Ⅲ portal vein tumor thrombosis.

Objective To assess the therapeutic effect of combination chemotherapy of gemcitabine and cisplatin by double way plus implantation of radioactive seed 125I implantation in treating stage Ⅲ non-small cell lung cancer. Methods Sixty cases with stage Ⅲ non-small cell lung cancer were randomly divided into two groups with random number table. In group A (in interventional treatment group, n = 30),the gemcitabine 1000 mg/m2 and one third of the cisplatin 100 mg/m2 was given using seldinger technique for transcatheter bronchial arterial infusion chemotherapy on day 1. Two-thirds of the cisplatin 100 mg/m2 was infused in veins on day 2 and 3. The gemcitabine 1000 mg/m2 was infused in veins on day 8, 21 days for a period. In group B (interventional - 125I groups), the method of combination chemotherapy of gemcitabine and cisplatin was the same as in Group A. After ten days of arterial perfusion, 125I seeds were implantated, 21 days for a period. All patients received at least 2 cycles. The imaging evaluation of patients after treatment standards included complete remission (CR), partial remission (PR), stable (SD),progressive disease (PD), effective rate (CR + PR)/30 and clinical benefit rate (CR + PR + SD)/30.Non-parametric rank sum test was used to compare short-term effect of the two groups treatment of two cycles.x2 test was used to compare year survival, Kaplan-Meier method was used to calculate median survival,log-rank test method was used to difference between the groups. Results In group A, there were 17 PR,9SD and 4 PD. The overall response rate was 56. 7% (17/30) and clinical beneficial rate was 86. 7% (26/30). In Group B, there were 2 CR, 21 PR, 7 SD. The overall response rate was 76.7% (23/30) and clinical beneficial rate was 100% (30/30). There was significant difference between the two groups (P =0. 036). In group A, the 1 year survival rate was 46. 7% (14/30) and the 2 year survival rate was 36. 7%(11/30), median survival time (MST) was 10 months . In group B, the 1 year survival rate was 76. 7%(23/30) and the 2 year survival rate was 63. 3% (19/30) , median survival time (MST) was 27 months.There was a significant difference between two group in 1 year survival rate (P = 0. 017), 2 year survival rate (P = 0. 039) and median survival time (P = 0. 006). Conclusion The treatment effects of Ⅲ stage non-small cell lung cancer by gemcitabine and cisplatin combination chemotherapy with double way plus radioactive seed 125I implantation was better than gemcitabine and cisplatin combination chemotherapy with double way.

Progressive familial intrahepatic cholestasis type I (PFIC1) is an autosomal recessive disorder caused by biallelic mutations of ATP8B1 gene, with progressive cholestasis as the main clinical manifestation. This paper reports the clinical and genetic features of a PFIC1 patient definitely diagnosed by ATP8B1 genetic analysis. The patient, a boy aged 14 months, was referred to the hospital with the complaint of jaundiced skin and sclera over 10 months. The patient had been managed in different hospitals, but the therapeutic effects were unsatisfactory due to undetermined etiology. On physical examination, hepatosplenomegaly was discovered in addition to jaundice of the skin and sclera. The liver was palpable 4 cm below the right subcostal margin and 2 cm below the xiphoid while the spleen 2 cm below the left subcostal margin. The liver function test revealed elevated levels of serum total bile acids, bilirubin, and transaminases; however, the γ-glutamyl transferase level was normal. The diagnosis was genetic cholestasis of undetermined origin. At the age of 1 year and 8 months, a Roux-en-Y cholecystocolonic bypass operation was performed, and thereafter the jaundice disappeared. At 5 years and 1 month, via whole genome sequencing analysis and Sanger sequencing confirmation, the boy was found to be a homozygote of mutation c.2081T>A(p.I694N) of ATP8B1 gene, and thus PFIC1 was definitely diagnosed. The boy was followed up until he was 6 years, and jaundice did not recur, but the long-term outcome remains to be observed.
Adenosine Triphosphatases ; genetics ; Cholestasis, Intrahepatic ; genetics ; DNA Mutational Analysis ; Humans ; Infant ; Male ; Mutation ; Sequence Analysis, DNA

Objective To investigate the feasibility and safety of the double J tube removal from ureter under fluoroscopy observation. Methods The medical records of patients in our department from April 2013 to March 2015, who performed“double J tube removal and/or replacement”were retrospectively reviewed and analyzed. These data included gender and age of the patient, position of the double J tube end in the bladder, removal method, fluoroscopy time, postoperative complications and so on. The removal methods were divided into a direct method and an indirect method. The direct method means using the ring of a gooseneck snare to hitch directly the end of double J tube in the bladder, and pulling it to the urethral orifice. For the indirect method, a guide wire and a gooseneck snare first were sent into the bladder to clip the double J tube, then, the ring of the gooseneck snare was used to hitch the end of the guide wire to withdraw the gooseneck snare and the guide wire to the urethral orifice, and the double J tube was pulled to the urethral orifice. The double J tube end position in the bladder had direct relationship with the choice of removal method. The author divided the double J tube end position in the bladder into A type, B1 type, B2 type, and C type. The bladder was divided into four quarters equally. Direct method was suitable for all types, while indirect method was only suitable for B2 and C type. Between April 2013 and September 2014, all patients were treated by the direct method;between October 2014 and March 2015, all patients with B1 and A type were treated by the direct method, and all patients with B2 and C type were treated by the indirect method. According to the success rate of operation, fluoroscopy time, the incidence of different complications, the efficacy and safety were determined. Results This study recruited a total of 49 patients, including 6 males and 43 females, who underwent 114 times of“double J tube removal”. On average, double J tube was removed 2.3 times per case. The overall success rate was 96.5% (110/114). The application of direct method was 92 times, and the success rate was 95.7%(88/92). The application of indirect method was 22 times, and the success rate was 100%(22/22). In this study, there were 4 failures to remove the double J tube, all of which happened in the direct method for the C type of patients. In the successful 110 cases, the average fluoroscopy time was (11.3+9.5) min. The application of direct method was 88 times, and the average fluoroscopy time was (12.3 ± 10.3) min; the application of indirect method was 22 times, and the average fluoroscopy time was (7.6±3.8) min. There were 10 cases with pain in urethral orifice, in which 9 cases was treated with direct method and one with indirect method. There were 5 cases with gross hematuria complicated in direct method. The overall incidence rate of the complications was 13.2% (15/114). All of postoperative complications resolved spontaneously. Conclusion The direct way and the indirect way to remove ureteral double J tube fluoroscopically are feasible and safe .

Alagille syndrome (ALGS) is an autosomal dominant disorder which is mainly caused by JAG1 gene mutation and can affect multiple systems including the liver, heart, eyes, skeleton and face. This paper reports the clinical and genetic features of an ALGS patient. A 2-year-and-9-month-old boy was referred to the hospital with the complaint of abnormal liver function and heart murmur discovered over two years. Jaundice of the skin and sclera was not observed. The child had a prominent forehead, left esotropia, depressed nasal bridge and micromandible. The two lungs were clear on auscultation, but a systolic cardiac murmur of grade 2/6 could be heard between the 2nd and 3rd intercostal space at the left sternal border. Neither abdominal distension nor enlarged liver or spleen was discovered. X-ray radiography uncovered butterfly malformation of the 6th and 8th thoracic vertebrae. Serum biochemistry analysis revealed elevation of total bile acids, bilirubin and transaminases. Based on the clinical characteristics and the consultation opinion of the ophthalmologist, the child was diagnosed to have ALGS with Duane retraction syndrome. DNA direct sequencing detected a novel JAG1 mutation c.2419delG(p.Glu807AsnfsX819) in the child. Symptomatic and supportive therapy was performed thereafter and clinical follow-up was conducted until he was 4 years and 2 months. In the follow-up visits, his general condition remained stable, but the facial malformations, left esotropia, cardiac murmur and abnormal liver function persistend. The long-term outcome needed to be observed.
Alagille Syndrome ; genetics ; therapy ; Child, Preschool ; Humans ; Jagged-1 Protein ; genetics ; Male ; Mutation

Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital with jaundiced skin and sclera for 3 months. Physical examination revealed wide forehead and micromandible. A systolic murmur of grade 3-4/6 was heard between the 2th and 3th intercostal spaces on the left side of the sternum. The abdomen was distended, and the liver palpable 3 cm under the right subcostal margin with a medium texture. Serum biochemistry analysis revealed abnormal liver function indices, with markedly elevated bilirubin (predominantly direct bilirubin), total bile acids (TBA) and gamma-glutamyl transpeptidase (GGT). Atrial septal defect and pulmonary stenosis were detected on echocardiography. Next generation sequencing detected entire deletion of the JAG1 gene, and then chromosomal microarray analysis revealed a novel interstitial deletion of 3.0 Mb in size on chr20p12.3p12.2, involving JAG1 gene. The child had special facial features, heart malformations, and cholestasis, and based on the genetic findings, ALGS was definitively diagnosed. Thereafter, symptomatic and supportive treatment was introduced. Thus far, the infant had been followed up till his age of 11 months. The hyperbilirubinemia got improved, but GGT and TBA were persistently elevated, and the long-term outcome needs to be observed. This study extended the JAG1 mutation spectrum, and provided laboratory evidences for the diagnosis and treatment of the patient, and for the genetic counseling and prenatal diagnosis in the family.
Alagille Syndrome ; genetics ; Bile Acids and Salts ; blood ; Child, Preschool ; Chromosome Deletion ; Humans ; Jagged-1 Protein ; genetics ; Male ; gamma-Glutamyltransferase ; blood

Microvillus inclusion disease (MVID) is an autosomal recessive disorder caused by biallelic mutations in the MYO5B or STX3 gene. Refractory diarrhea and malabsorption are the main clinical manifestations. The aim of this study was to investigate the clinical features and MYO5B gene mutations of an infant with MVID. A 21-day-old female infant was referred to the hospital with the complaint of diarrhea for 20 days. On physical examination, growth retardation of the body weight and length was found along with moderately jaundiced skin and sclera. Breath sounds were clear in the two lungs and the heart sounds were normal. The abdomen was distended and the veins in the abdominal wall were observed. The liver and spleen were not palpable. Biochemical analysis revealed raised serum total bile acids, bilirubin, transaminases and γ-glutamyl transpeptidase while decreased levels of serum sodium, chloride, phosphate and magnesium. Blood gas analysis indicated metabolic acidosis. The preliminary diagnosis was congenital diarrhea, and thus parenteral nutrition was given along with other symptomatic and supportive measures. However, diarrhea, metabolic acidosis and electrolyte disturbance were intractable, and the cholestatic indices, including transaminases, γ-glutamyl transpeptidase, bilirubin and total bile acids, remained at increased levels. One month later, the patient was discharged and then lost contact. On genetic analysis, the infant was proved to be a compound heterozygote of the c.310+2Tdup and c.1966C>T(p.R656C) variants of the gene MYO5B, with c.310+2Tdup being a novel splice-site mutation. MVID was thus definitely diagnosed.
Female ; Humans ; Infant, Newborn ; Malabsorption Syndromes ; diagnosis ; genetics ; Microvilli ; genetics ; pathology ; Mucolipidoses ; diagnosis ; genetics ; Mutation ; Myosin Heavy Chains ; genetics ; Myosin Type V ; genetics

Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the definite diagnosis of ILFS1. The 2 years and 9 months old male patient was referred to the hospital with hepatosplenomegaly over 1 year. At age 17 months, he was found to have hepatosplenomegaly and anemia. Since then, he had been managed in different hospitals. The laboratory tests showed liver dysfunction, hypoproteinemia, coagulopathy and anemia, along with histologically-confirmed cirrhosis and fatty liver; however, the etiology remained undetermined. The subsequent SLC25A13 mutation analysis by means of prevalent mutation screening and Sanger sequencing only revealed a paternally-inherited mutation c.1658G>A, and no aberrant SLC25A13 transcripts could be detected from the maternal allele on cDNA cloning analysis, ruling out the possibility of citrin deficiency. Further target exome high-throughout sequencing of genes relevant to genetic liver diseases detected a paternal c.2133_2135del (p.L712del) and a maternal c.1183G>A (p.D395N) mutation in LARS gene. This finding was then confirmed by Sanger sequencing, and ILFS1 was thus definitely diagnosed. The child has been followed up till age 4 years, and his condition became stabilized.
Child, Preschool ; High-Throughput Nucleotide Sequencing ; Humans ; Leucine-tRNA Ligase ; genetics ; Liver Failure ; diagnosis ; genetics ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation