Inborn errors of bile acid synthesis caused by enzyme defects are inherited metabolic rare diseases and mostly belong to the autosomal recessive hereditary diseases. They are clinically manifested as progressive cholestasis liver disease, neurological disorders, and fat-soluble vitamin malabsorption. The progressive cholestasis liver disease is characterized by conju-gated hyperbilirubinaemia with raised transaminase, but normal γ-glutamyl transpeptidase (γ-GT), and a biopsy specimen shows giant cell hepatitis. The neurological disorders usually present with childhood-onset or adult-onset spastic paraplegia. Early diag-nosis is important because oral administration of bile acids is effective for two disorders above. This article reviews pathophyso-logy, clinical features and various enzyme defects of inborn errors of bile acid synthesis.

Objective To compare the therapeutic effects of cordyceps sinesis (CS) and reduced glutathione on experimental non-alcoholic fatty liver disease (NAFLD) rats and explore the possible molecular mechanisms. Methods After NAFLD rats were induced by high-fat diet and were treated by CS and reduced glutathione. The histopathologic changes of livers were evaluated. The levels of TG and FFA in serum and liver were measured. The levels of SOD and ATP in liver were measured too. Results (1)In the development of NAFLD, extensive adipose degeneration, inflammatory cell infiltration and necrosis, local fibrous tissue hyperplasia were found in the liver. The increase of TG, FFA in the serum and liver and decrease of SOD and ATP in the liver were seen. (2)In CS treated group, adipose degeneration had been alleviated with slightly inflammatory cells infiltration and no necrosis or fibrosis had been found. The concentrations of TG and FFA were decreased in the serum and liver, but SOD and ATP increased. (3)In glutathione treated group, adipose degeneration of liver and inflammatory cells infiltration remained obviously with focus or punctiform necrosis, but without fibrosis. The increase of SOD in liver was distinguished. No changes of TG, FFA, UCP-2 and ATP had been detected. Conclusion Both CS and reduced glutathione have therapeutic effects on NAFLD, by preventing the generation of liver fibrosis. CS has a better therapeutic effects on metabolic disturbance or accumulation of lipid and energy metabolic imbalance of liver cells.

Objective To explore the effects of L-carnitine on newborn with hypoxic ischemic myocardial injury.Methods Sixty cases with hypoxic ischemic myocardial injury were divided into two groups,including control group (n =30) receiving fructose sodium diphosphate injection,and experimental group (n =30) receiving both fructose sodium diphosphate and L-carnitine injection for 7 days.The clinical symptoms,changes of heart rates,blood pressure,volume of urine,lactic acid dehydrogenase,creatine kinase,creatine kinase-MB,cardiac troponin Ⅰ and electrocardiogram were investigated before and after treatment.Results Treatment with L-carnitine improved the symptoms of hypoxic ischemic myocardial injury,the total effective rate was 93.3％ (28/30),versus 66.7％ (20/30) in control group,the difference was statistically significant(x2 =6.667,P =0.01).Heart rates of the experimental group were significantly improved after treatment(t =-6.131,P ＜0.01),compared with the control group,there were no significant differences (P ＞ 0.05).Blood pressure and urine volume of experimental group both increased after treatment (P ＜0.05),compared with the control group,the differences were statistically significant (P ＜ 0.05).Creatine kinase and creatine kinase-MB significantly decreased after treatment,compared with the control group (P ＜ 0.05).A downward trend of cardiac troponin Ⅰ was observed in both groups,however,there was no statistically significant difference before and after treatment (P ＞ 0.05).After treatment,electrocardiogram improvement rates were no significantly different between the two groups (P ＞ 0.05).Conclusion L-camitine can contribute to protect hypoxic ischemic myocardial from further injury.

Objective To explore the association between variation in genes related to lipid metabolism and the susceptibility of nonalcoholic fatty liver disease (NAFLD). Methods Obese children with fatty liver aged 6~18 years old were included. All of them got ultrasonic testing, routine examination and biochemical detection. In addition, the DNA of peripheral blood was extracted and the 36 target genes related to lipid metabolism were detected by next generation sequencing. Results In 368 obese children who met the inclusion criteria, 183 children (49.7%) were detected to have NAFL . 100 children with NAFLD and 100 children without NAFLD were randomly selected from obese children. The levels of body mass, waistline, alanine aminotransferase (ALT), triacylglycerol (TG), cholesterol, low density lipoprotein (LDL) and apolipoprotein B (ApoB) in NAFLD children were all higher than those in non-NAFLD children, and there were significant differences (P all<0.05). However, the levels of aspartate aminotransferase (AST), alkaline phosphatase (ALP), apolipoprotein A1 (ApoA1), fasting blood glucose, insulin, high density lipoprotein (HDL), free fatty acid (FFA) and insulin resistance index (HOMA-IR) were not significantly different between the two groups (P all>0.05). The levels of bilirubine in the two groups were within normal range. Logistic regression analysis showed that the genes of MTTP rs2306986 (OR=2.70, 95%CI: 1.38~5.27) and MTTP rs3792683 (OR=7.34, 95%CI: 2.04~26.50) that encode microsomal triglyceride transfer protein (MTTP or MTP), and the mutation of rs738409 (OR=2.11, 95%CI:1.31~4.48) in gene PNPLA3 that encode patatin-like phospholipase domain-containing protein 3 are the independent risk factors for the occurrence of the disease. Conclusion Genovariation of MTTP rs2306986, MTTP rs3792683, and PNPLA3 rs738409 may increase susceptibility to NAFLD in children.

Objective To assess the efficacy of oral erythromycin on the functional gastrointestinal dysmotility in neonates.Methods In this double-blind,randomized,placebo controlled trial,90 neonates consecutively admitted to the neonatal intensive care unit of Shenzhen Children's Hospital from Jan 2009 to Dec 2011 were enrolled and randomly divided into low-dosage erythromycin group ( LE group,n =30 ),highdosage erythromycin group ( HE group,n =30 ) and control group ( n =30).Patients received either erythromycin ( 3 mg/kg or 10 mg/kg) or equivalent normal saline with oral or nasal feeding every 8 hours one time for 14 d.The time to achieve half,three-quarters,and full enteral nutrition,the time of parenteral nutrition,and hospital length of stay were compared among each group.Results The time to achieve half,three-quarters,and full enteral nutrition in HE group [ ( 3.0 ± 0.5 ) d,( 6.2 ± 0.7 ) d,( 8.2 ± 1.0 ) d ] and in LE group [(6.2±0.5) d,(8.3 ±0.6) d,(10.6 ±1.1) d] were shorter than that in control group [(8.1 ±0.4) d,( 13.5 ± 1.0) d,( 15.7 ± 1.2) d] ( P ＜ 0.05 ).The duration of parenteral nutrition [ ( 14.2 ± 1.4) d vs (9.3 ± 1.2) d vs (7.8 ± 1.1 ) d ] and hospital length of stay [ ( 13.0 ± 1.4 ) d vs ( 8.1 ± 0.8 ) d vs ( 6.8 ±0.7) d] were significantly prolonged in control group compared with LE and HE groups,and there were significant differences among the three groups ( P ＜ 0.05).The incidence of liver injury and septicemia during the treatment of erythromycin were similar between HE group and LE group,but it was significantly lower than control group.No serious adverse effect such as prolongation of QT intervals,dysrhythmia associated with erythromycin treatment was found.Conclusion Oral erythromycin can be considered as a treatment for neonates with functional gastrointestinal dysmotility who fail to establish adequate enteral nutrition,and highdosage oral erythromycin is more effective than low-dosage.

Objective To assess the safety, effectiveness and predictive factors of endoscopic balloon dilatation for the treatment of esophageal stricture and esophageal achalasia in children. Methods 28 patients with esophageal stricture and esophageal achalasia treated by endoscopic balloon dilatation from January 2012 to November 2014 were included. All the patients were divided into two groups, 22 in group A (esophageal stricture) and 6 in group B (esophageal achalasia). All procedures were performed under tracheal intubation and intravenous anesthesia using the 3rd grade controlled radial expansion (CRE) balloon with gastroscope. Outcomes, including success, complications and recurrence data were recorded, and predictors for outcomes were analyzed. Results A total of EBD 57 sessions (1 to 5 per patient, 2.00 ± 1.15) were performed on 28 patients in this study. 22 patients were diagnosed with esophageal stricture (78.57%) and 6 with esophageal achalasia (21.43%). The median age was 25 months (range 0 ~ 150), and female/ male ratio was 12/16. EBD was successful in all the 28 cases. The total success rate was 100.00%. Complications occurred in 6 patients during the dilatation, and no complication in 22 patients. Completely remission of symptoms was seen in 82.14% cases (n = 23), relief in 14.28% (n = 4), non-response in 3.57% (n = 1), and recurrence in 3.57% (n = 1). The stricture diameter before EBD was (6.28 ± 1.77) mm (range 3.0 ~ 10.0 mm), and it was (10.85 ± 2.51) (range 6 ~ 15 mm) after the last EBD. The difference was significant (P < 0.01). There was no significant difference in success, effectiveness, complications and recurrence among the two groups (P > 0.05). The effectiveness of EBD was significantly associated with the diameter and number of strictures (P < 0.05), more complications were seen in the patients with multiple and/or smaller strictures (P < 0.05). In group A, the longer interval between surgery and the first EBD was related to more dilatation in the patients with anastomotic esophageal strictures (P < 0.05). The age and the interval between symptom onset and the first EBD were not the predicting factors for treatment in group B (P > 0.05). Conclusions The results of this study indicated that EBD under general anesthesia was an effective primary treatment in children with esophageal stricture and esophageal achalasia. The diameter and number of stricture were the most important predictive factors for successful clinical outcomes, while the interval between surgery and the first EBD was the most risk factor for EBD sessions in the patients with anastomotic esophageal strictures.

ObjectiveTo explore the clinical characteristics, treatment and prognosis of severe liver damage in children.MethodsClinical data of 55 children with severe liver damage were retrospectively analyzed.Results In 55 children (31 boys and 24 girls) aged from 28 days to 12 years, forty-five children had acute liver injury mainly caused by infectious diseases (21 cases, 53.3%), blood tumor diseases (5 cases, 11.1%), hereditary metabolic diseases (4 cases, 8.9%), and unexplained diseases (10 cases, 22.2%), ten children had chronic liver injury with decompensated cir-rhosis. Most of severe liver damage in children was caused by antipyretic drugs, traditional Chinese medicine and cold medicine, including 31 cases of acute liver injury and 4 cases of chronic liver injury. In children with acute liver injury, clinical symptoms included gastrointestinal symptoms (32 cases, 71.1%), jaundice (26 cases, 57.8%), hemorrhage (9 cases, 20.0%), multiple organ dysfunction (13 cases, 28.9%) and hepatic encephalopathy (6 cases, 13.3%). In children with chronic liver damage, clinical symptoms included abdominal distension and ascites (10 cases), jaundice (9 cases), gastrointestinal bleeding (7 cases), hepatic encephalopathy (3 cases) and multiple organ dysfunction (1 case). In 55 chil-dren, 39 children were died and the total mortality was 70.91%. In 14 cases of multiple organs dysfunction syndromes, 13 cases (92.9%) were died. All three cases of hepatic encephalopathy were died.ConclusionsInfectious diseases are the leading cause of sever liver damage in children. The most common inciting factors are antipyretic drugs, traditional Chinese medicine and cold medicine. Children with severe liver damage have a high mortality. Rational use of medicine and the concept of the prevention first should been strengthened.

Objective To explore fecal bacteria transplantation for the treatment of severe gastrointestinal disease caused by food allergy. Method The therapeutic process of fecal bacteria transplantation for treatment of severe food allergy gastrointestinal disease was retrospectively analyzed, and the related literature was reviewed. Results A 2-year-old boy had onset of intestinal infection and diarrhea was persistent even though he had received adequate anti-infection therapy and supportive treatment. Finally, the patient received the treatment of fecal bacteria transplantation and the symptoms were then improved. No adverse reactions were observed in 2 months of follow-up. In foreign literature, fecal bacteria transplantation in children is mainly applied to clostridium difficile infection (CDI) and inflammatory bowel disease (IBD), with efficiency of 90%- 100% and 55.6% - 100%, respectively. While in the domestic literature, fecal bacteria transplantation in children is mainly used in CDI and antibiotic associated diarrhea, and the effective rate is 100%. No serious adverse reactions were found in all the researches. Conclusion Fecal transplantation is safe and effective in the treatment of children with severe gastrointestinal disease caused by food allergy, but its application in children is not yet mature and needs more in-depth researches.

Objective To learn about the etiology , clinical characteristics and prognosis of infants with cholestasis jaundice. Methods The clinical data of 175 cholestatic patients were retrospectively analyzed , then the prognosis was followed-up with telephone. Results After analyzing the etiology , we found that among 175 patients , there were 42 with biliary atresia , of which 19 infants died , 4 recovered well after liver transplanta-tion , 8 had liver cirrhosis waiting for transplantation , 5 recovered well after Kasai Portoenterostomy and 6 lost contact. There were 2 patients with Bile duct dysplasia and 2 with congenital cholangiectasis and they had posi-tive outcomes. And 29 patients with Cytomegalovirus infection also had positive outcome. There were 16 patients with Heredity metabolic diseases , among which 13 patients were with Citrin protein deficiency; 10 had positive outcomes; 2 lost contact and 1 died. There were 3 patients with tyrosinemia , of which one had positive outcome;one lost contact and another got liver cirohosis waiting for liver transplantation. Four patients with TPN-related cholestasis all had positive outcomes. There were still 80 cases with unkown etiology , but 79 had positive out-comes and 1 case lost. The clinical characteristics showed that the infants with cholestatic jaundice often accom-panied by stool color changed , liver and spleen enlargement and so on , and often complicated with pneumonia , hypoalbuminemia and coagulation dysfunction and so on. Conclusion There are many etiologies for infants with cholestatic jaundice. Early diagnosis and early treatment would benefit the prognosis.

OBJECTIVETo explore the etiology and clinical characteristics of hypoxic hepatitis (HH) in children.

METHODClinical data of 7 patients with HH in Shenzhen Children's Hospital from January 2011 to March 2014 were retrospectively reviewed.

RESULTSeven cases diagnosed as HH, age from 4 months to 11 years, were admitted to pediatric intensive care unit (PICU), and accounted for 0.32% of patients in PICU during the same period. The primary causes of HH were respiratory failure and cardiac shock caused by severe hand-foot-and-mouth disease, fulminant myocarditis, infant muggy syndrome . Serologic tests for hepatitis B virus, hepatitis C virus, as well as serum antibody and DNA for Epstein-Barr virus and cytomegalovirus were all negative. There was an increase of alanine aminotransferase (ALT) (≥20 time supper limit of normal (ULN), the highest ALT was more than 130 times ULN in all the patients, which was decreased to 2 times ULN from peak within 10 days. There was a significant relationship between ALT and aspartate aminotransferase(AST)in 3 cases(r=1.000, 1.000, and 0.833, respectively, P<0.05), ALT and lactate dehydrogenase (LDH)in 2 cases(r=1.000 and 0.886, respectively, P<0.05), ALT and blood urea nitrogen(BUN)in 1 case(r=1.000, P<0.05), and ALT and creatine kinase(CK)in 1 case(r=0.964, P<0.05). The ALT, AST and LDH returned to normal soon after the primary diseases were controlled.

CONCLUSIONSevere heart failure, hypoxemia, shock, etc. are the leading primary diseases causing HH. The sharp increase in ALT, AST and LDH is the typical laboratory manifestion in HH after the onset, which may decline to normal shortly after the treatment, sometimes complicated with reversible change in BUN or CK.

Alanine Transaminase ; Animals ; Aspartate Aminotransferases ; Child ; Child, Preschool ; Creatine Kinase ; Heart Failure ; Hepatitis ; Herpesvirus 4, Human ; Humans ; Hypoxia ; Infant ; L-Lactate Dehydrogenase ; Respiratory Insufficiency ; Retrospective Studies