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BACKGROUND The ATP6AP1 gene coding for the accessory protein Ac45 of the vacuolar-type adenosine triphosphatases (V-ATPase) is located on chromosome Xq28. Defects in certain subunits or accessory subunits of the V-ATPase can lead to congenital disorders of glycosylation (CDG). CDG is a group of metabolic disorders in which defective protein and lipid glycosylation processes affect multiple tissues and organs. Therefore, the clinical presentation of patients with ATP6AP1-CDG varies widely. In this report, we present a case of ATP6AP1-CDG in a Chinese infant, with clinical features and genotype. CASE SUMMARY An 8-mo-old boy was admitted to our hospital because unexplained hepatosplenomegaly and elevated transaminases that had been noted while he was being treated for a cough at a local hospital. A post-admission examination at our hospital revealed abnormalities in the infant’s liver, brain, and immune system. Trio-based whole exome gene analysis identified a hemizygous pathogenic mutation c.1036G>A (p.E346K) in exon 9 of the ATP6AP1 gene. This variant of the ATP6AP1 gene has not been reported in East Asian countries until now. CONCLUSION Based on the infant’s clinical manifestations and the results of genetic detection, he was clearly diagnosed with ATP6AP1-CDG. The clinical manifestations of children with CDG vary widely. Genetic testing analysis helps in the clinical diagnosis of children with CDG.

Background To explore t function of peroxisome proliferator-activated receptor γ(PPARγ) in renal tissue in acute hypoxic renal rat model injury. Methods 24 male SD rats were randomly divided into normal control group, PPARγ agonist group (rosiglitazone 10 mg/kg.d), PPARγ inhibitor group༈GW9662,1mg/kg·d༉and hypoxia injury group, with six rats in each group. The normal control group without any treatment, the other three groups were exposed to 7500 m altitude for seven hours of acute hypobaric hypoxia. The mRNA and protein expressions of PPARγ, superoxide dismutase (SOD), interleukin-1 β༈IL-1β༉ and renal endothelin(ET-1) in renal tissue were detected by using real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) and western blotting. The kidney’s morphology was observed by light microscope and electron microscope. Results The mRNA and protein expression levels of PPARγ and SOD in hypoxia injury group decreased significantly (P

ObjectivesThis aim of this study was to determine whether neutrophil extracellular traps (NETs) are involved in the pathogenesis of IgA vasculitis (IgAV) and investigate whether the circulating NETs levels are associated with disease activity in children.MethodsWe performed a case-control study and collected blood samples from 193 children with different stages of IgAV (61 were at the onset stage, 64 at the remission stage, 43 at the active stage, and 25 were undergoing drug withdrawal). A total of 192 healthy children were recruited as controls. Circulating cell free DNA (cf-DNA) was obtained from the plasma and quantified by using the Quant-iT PicoGreen DNA quantification kit. NETs-associated myeloperoxidase-DNA (MPO-DNA), citrullinated-histone H3 (cit-H3), neutrophil elastase (NE), and the deoxyribonuclease I (DNase I) concentrations were measured using enzyme-linked immunosorbent assays. The presence of NETs in the kidney and gastrointestinal tissues of onset and active IgAV patients was determined by multiple immunofluorescence staining in 15 IgAV nephritis patients and 9 IgAV patients without IgAV nephritis, respectively. NETs degradation potency of collected sera samples from IgAV patients were checked in vitro. Relationships between circulating levels of cf-DNA with MPO-DNA, NE, and DNase I and the patients were analyzed.ResultsCirculating levels of cf-DNA in onset and active IgAV patients were significantly higher than those in remission and drug withdrawal patients as well as healthy controls. The results were similar for MPO-DNA and NE. The levels of circulating cf-DNA correlated significantly with MPO-DNA, NE and DNase I. A significantly decreased degradation of NETs from the onset and active IgAV patients was observed, but was normal in healthy controls. Furthermore, presence of NETs was also confirmed in all renal and gastrointestinal tissues obtained from the onset and active IgAV patients but not control samples.ConclusionsOur data showed that NETs were released into the circulation of IgAV patients and are involved in the disease activity. The circulating levels of NETs maybe used to assess disease severity in children with IgAV.

BACKGROUND: N-terminal brain natriuretic peptide precursor (NT-proBNP) and brain natriuretic peptide (BNP) are mainly produced and secreted in the heart. In 2008, the European Heart Association recommended that serum BNP/NT-proBNP levels should be included in one of the diagnostic criteria of heart failure. Serum NT-proBNP is more stable than BNP, and the detection results are less affected by objective factors, so it is widely used. At present, NT-proBNP has long been beyond the scope of heart failure markers, and has a wide range of clinical value in the evaluation and prediction of some serious diseases. This study prospectively studied the predictive value of serum NT-proBNP in pediatric intensive care unit (PICU). METHODS: This was a prospective study involving 375 children in the PICU. The patients were divided into three groups: non-risk, low-risk, and high-risk groups. Serum NT-proBNP levels and the 28-day mortality rate were analyzed. RESULTS: The serum NT-proBNP levels and the mortality of the high-risk group was significantly higher than those of the low- and non-risk groups (P

To develop a noninvasive model to predict significant fibrosis in children with chronic hepatitis B (CHB). A total of 116 CHB pediatric patients who underwent liver biopsy were included in the study. Liver histology, which is the gold standard for assessing fibrosis, was performed. Blood routine examination, coagulation function, liver biochemistry, viral serology, and viral load were analyzed. Receiver operating characteristic curve analysis was used to analyze the sensitivity and specificity of all possible cut-off values. Based on the correlation and difference analyses, 7 available clinical parameters (total bile acid, gamma-glutamyl transpeptidase [GGT], aspartate transaminase, direct bilirubin to total bilirubin ratio, alanine aminotransferase, prealbumin [PA], and cholinesterase) were included in the modeling analysis. A model to predict significant liver fibrosis was derived using the 2 best parameters (PA and GGT). The original model was Y=−1.803 ln PA(mg/L)+0.769lnGGT(U/L)+6.436. After the mathematical calculation, the G index=600 × GGT/PA2 predicted significant fibrosis, with an area under the receiving operating characteristics (AUROC) curve of 0.733, 95% confidence interval (0.643–0.811). The AUROC of the G index (0.733) was higher than that of aminotransferase to platelet ratio index (APRI) (0.680) and Fibrosis index based on 4 factors (FIB-4) (0.601) in predicting significant fibrosis in children with CHB. If the values of the G index were outside the range of 0.28 to 1.16, 52% of children with CHB could avoid liver biopsy, with an overall accuracy of 75%. The G index can predict and exclude significant fibrosis in children with CHB, and it may reduce the need for liver biopsy in children with CHB.

Background: To develope a noninvasive model for significant fibrosis in children with chronic hepatitis B (CHB). Methods: A total 116 CHB pediatric patientswere who had undergone liver biopsy were included in the study. The gold standard of fibrosis was assessed by liver histology. blood routine examination, coagulation function, liver biochemistry, viral serology and viral load were analyzed. Receiver operating characteristic (ROC) curve analysis was used to analyze sensitivity and specificity of all possible cut-off values.Results: Based on the correlation and difference analysis, 7 available clinical parameters [Total bile acid (TBA), Gamma-glutamyl transpeptidase(GGT)，Aspartate transaminase(AST)，Direct bilirubin to total bilirubin ratio (D/T)，Alanine aminotransferase(ALT)，Prealbumin，(PA)，and Cholinesterase（CHE）were included for modeling analysis. A model to predict significant liver fibrosis (Ishak fibrosis score ≥2) was derived using the two best parameters (PA and GGT) The original model was. After mathematical calculation, the G index 600×GGT/PA2 predicts significant fibrosis with an area under the receiving operating characteristics (AUROC) curve of 0.733，95% IC (0.643-0.811). The area under the receiver operating characteristic curve (AUROC) of G index (0.733,) was higher than that of APRI (0.680) and FIB-4(0.601) to predict significant fibrosis in children with CHB. If the G index's values outside 0.28-1.16, 52% of children with CHB could avoid liver biopsy with an overall accuracy of 75%.Conclusions: The G index can predict and exclude significant fibrosis in children with HBV, which may reduce the liver biopsy need for children with CHB.

Intestinal myiasis caused by fly larvae parasitic in gastrointestinal tract was rare reported in children. We reported an infant with bloody diarrhea caused by intestinal myiasis. A 1 year and 7 months old boy presented with the only symptom of bloody diarrhea of unknown origin. In the second week of onset, numerous moving worms were observed in the bloody stool after bowel preparation with polyethylene glycol for colonoscopy. The bloody diarrhea disappeared after 1 week of combined therapy with albendazole and metronidazole. On follow-up after 6 months, the patient remained well without bloody diarrhea. In conclusion, intestinal myiasis being a rare disease that is very challenging to diagnose, physicians should remember it when they receive cases of bloody diarrhea with non-specific symptoms without any apparent cause.

Accurate required power forecasting is critical to ensure the recharge mileage and to optimize the energy utilization of heavy-duty vehicles. This paper proposed an artificial intelligence model predictive control framework for the energy management system (EMS) of the series hybrid electric vehicle with terrain and load information. It aims to achieve optimal energy distribution with increased required power prediction accuracy and optimized SoC sequence by fast analyzing high-dimensional information. Firstly, the required power is predicted by a deep inference framework (LASSO-CNN), which integrates the least absolute shrinkage selection operator (LASSO) and convolutional neural network (CNN). Secondly, the optimal SoC sequence on hilly roads is planned in advance, with the SHEV's recuperated energy being predicted based on the current driving state. Finally, MPC-based predictive energy management is achieved by combining required power prediction and SoC planning with rolling optimization and feedback correction. Simulation results show that the fuel consumption is 2.51% lower than the deterministic dynamic programming-based controller, and the computation time is decreased by 48.1%. These promising results suggest that the proposed predictive energy management strategy can play a critical role in predicting power demand, which further reduces the fuel consumption of the hybrid electric mining truck.

Rationale: Glycogen storage disease (GSD) type VI is a rare disease caused by the inherited deficiency of liver phosphorylase. Patient concerns: The proband, a 61-month-old Chinese boy, manifested intermittent hematochezia, growth retardation, hepatomegaly, damage of liver function, mild hypoglycemia, and hyperlactatemia. The other patient was a 107-month-old Chinese girl with growth retardation, hepatomegaly, mild hypoglycemia, and hyperlactatemia. In order to further confirm the diagnosis, we conducted a liver biopsy and detected blood samples for their gene using IDT exon chip capture and high-throughput sequencing. Diagnoses: According to the clinical symptoms, physical examination, laboratory examinations, liver biopsy, and the genetic test finding, the 2 patients were diagnosed GSD VI. Interventions: They were treated mainly with uncooked cornstarch. Outcomes: There were 2 mutations of PYGL gene in this pedigree. c.2467C>T (p. Q823X) and c.2178-2A>C occurred both in the proband and his second sister. Lessons: As a novel mutation, c.2178-2A>C enriches the mutation spectrum of PYGL gene. The different degrees of elevated lactate is an unusual phenotype in GSD VI patients. It is not clear if this is caused by the new mutation of c. 2178-2A > C. Long-term complications remains to be observed.

Objective To analyze the clinical features of children with hand foot and mouth disease (HFMD) who died. Methods 331 deaths due to HFMD between 2010 and 2014 were included in this retrospective study; 15 autopsies were performed. Results Most deaths were seen in children aged below 3 y, and with enterovirus 71 infection (91%). The mean (SD) duration of HFMD from onset to death was 3.7(2.9) d. The mean (SD) age of fast progressors (from onset to death less than 4 days) was 17.4 (9.2) mo. Most of them were diagnosed as stage 3 and stage 4 of HFMD. Various pathological changes were observed in brain after autopsy, especially in brain stem and medulla. Conclusions The brain stem encephalitis with the neurotropism of enteroviruses seems to be the main contributor to the death in HFMD.

OBJECTIVE: To investigate the clinical features of invasive pulmonary fungal infections (IPFIs) after biliary atresia (BA) surgery and related risk factors. METHODS: A retrospective analysis was performed for the clinical data of 49 children with IPFIs after BA surgery, including clinical features, lung imaging findings, and pathogenic features. The risk factors for IPFIs after BA surgery were also analyzed. RESULTS: The most common pathogens of IPFIs after BA surgery was Candida albicans (17 strains, 45%), followed by Candida tropicalis (7 strains, 18%), Aspergillus (6 strains, 16%), Candida krusei (3 strains, 8%), Candida glabrata (3 strains, 8%), and Candida parapsilosis (2 strains, 5%). Major clinical manifestations included pyrexia, cough, and shortness of breath, as well as dyspnea in severe cases; the incidence rate of shortness of breath reached 78%, and 35% of all children had no obvious rale. The multivariate logistic regression analysis showed that age at the time of surgery, time of glucocorticoid application, cumulative time of the application of broad-spectrum antibiotics, and recurrent cholangitis were major risk factors for IPFIs after BA surgery. CONCLUSIONS: The three most common pathogens of IPFIs after BA surgery are Candida albicans, Candida tropicalis, and Aspergillus. It is important to perform surgery as early as possible, avoid recurrent cholangitis, and shorten the course of the treatment with broad-spectrum antibiotics and glucocorticoids for decreasing the risk of IPFIs.

Objective. This systematic review aimed to assess the effec- tiveness of repetitive transcranial magnetic stimulation (rTMS) treatment for chronic tinnitus. Data Sources. Relevant electronic databases and a reference list of articles published up to January 2012 were searched. Randomized controlled clinical trials of all types of rTMS treatment for patients with chronic tinnitus were included. Review Methods. A literature search was conducted with structured criteria to select studies evaluated for systematic review. Results. Five trials (160 participants) were included in this review. Repetitive transcranial magnetic stimulation treat- ment showed benefits in the short term, but the long-term effects are questionable. The Tinnitus Handicap Inventory (THI) and the visual analog scale (VAS) were the major assessment methods used. After active TMS stimulation, the reduction in the THI total score and VAS was significant compared with baseline at the first time point assessed and in the short term (2 weeks and 4 weeks). The longest follow-up time was 26 weeks after treatment, and the shortest follow-up time was 2 weeks. No severe side effects were reported from the use of rTMS. Differences in age, hearing level, duration of tinnitus of the included patients, and the condition of sham treatment may influence the effect. Conclusion. Repetitive transcranial magnetic stimulation could be a new therapeutic tool for the treatment of chronic tinni- tus, and thus far we have not been able to demonstrate any substantial risk from rTMS treatment. However, the long- term effects of rTMS treatment for tinnitus are not clear and will require further study.

To analyze the effects of ursodeoxycholic acid (UDCA) on the mRNA expression of multidrug resistance protein 3 (MDR3) and farnesoid X receptor (FXR) in infants with cholestatic hepatitis.Twenty-eight infants who were diagnosed with cholestatic hepatitis between July 2008 and July 2010 were included in the study. These patients received treatment with UDCA. The mRNA expression levels of MDR3 and FXR were measured by real-time quantitative RT-PCR with SYBR Green I, before and after treatment with UDCA.After treatment with UDCA, the infants with cholestatic hepatitis had significantly decreased serum levels of total bilirubin, direct bilirubin, alanine aminotransferase, and gamma-glutamyltransferase (P0.05) and significantly increased mRNA expression of MDR3 (P0.05). No significant change in mRNA expression of FXR was observed, however (P0.05).UDCA improves liver function indices in infants with cholestatic hepatitis, which may be related to up-regulated mRNA expression of MDR3.

This paper shows the characteristics of noticeable shocks of 37 earthquake sequences withM ≥6 and the research on the tracing prediction method of them. The result shows that the variation of the strain release of the tracing earthquake sequence with time is an important means for predicting the following noticeable shocks. Predicting ultra-late strong aftershocks needs to investigate the regional seismicities.

Reason for Withdrawal Withdrawn from Issue 9, 2014. Authors unable to proceed. To view the published versions of this article, please click the 'Other versions' tab.

To study hepatic NF-κB level following endotoxemic liver injury, and its relationship with hepatic TNF-α and IL-6 levels in young rats.Forty 18-day-old rats were randomly assigned to a normal control and an endotoxemia group. Endotoxemia was induced by lipopolysaccharide injection (LPS, 5 mg/kg). The endotoxemia group was subdivided into four groups sampled at 2, 6, 12 and 24 hrs after LPS injection (n=8 each). Pathological changes in liver cells were observed under a light microscope. TNF-α and IL-6 levels in liver tissue homogenates were measured using ELISA. Reitman-Frankel was used to measure serum ALT concentrations. NF-κB activation level in liver tissues was detected by immunohistochemistry.Liver tissue injury was the most obvious 6 hrs after LPS injection under the light microscope, and the damage rating of liver tissues was significantly higher in the endotoxemia group than that in the normal control group at all time points (P0.05). ALT levels in the endotoxemia group were significantly higher than those in the normal control group 6, 12 and 24 hrs after LPS injection (P0.05). NF-κB p65 protein expression in liver cells (percentage of nuclear positive cells) in the endotoxemia groups was significantly higher than that in the normal control group (P0.05). TNF-α and IL-6 levels in liver tissue homogenates in the endotoxemia groups were significantly higher than those in the normal control group 6 and 12 hrs after LPS injection (P0.05).Endotoxemia can cause liver injury, resulting in liver cell damage and changes in liver function. NF-κB activation is involved in endotoxemic liver injury which may be mediated by inflammatory cytokines TNF-α and IL-6 synthesis.

This study aimed to evaluate the genetic effect of the NR1H4 gene in the pathogenesis of idiopathic infantile cholestasis of Chinese subjects in Guangxi, China.Seventy-eight patients with idiopathic infantile cholestasis served as a study group and 95 infants without cholestasis as controls. Genomic DNA was extracted from peripheral venous blood leucocytes by phenol chloroform procedures. Polymerase chain reaction (PCR) was used to amplify all coded exons of NR1H4, and single-strand conformation polymorphism (SSCP) was used to analyze all amplification fragments. The PCR products with abnormal bands in SSCP were sequenced using an ABI 3100 sequencer.A novel heterozygous termination codon mutation in NR1H4 exon 5 (NR1H4 R176X, CGA-TGA) was found in one of the 78 patients. The patient with mutation R176X had high levels of bilirubin, alanine aminotransferase, γ-glutamyltransferase, cirrhosis and ascites despite biliary tract flushing procedures and drug therapy. In the other patients and controls, no mutation was detected.Heterozygous termination codon mutation of NR1H4 R176X was found in idiopathic infantile cholestasis. The novel mutation is useful to establish particular characteristics for differential diagnosis of idiopathic infantile cholestasis and to determine the influence of such gene defects in the prognosis.

AIM To evaluate the role of genetic factors in the pathogenesis of idiopathic infant cholestasis. METHODS We performed a case-control study, including 78 infants with idiopathic infant cholestasis and 113 healthy infants as controls. Genomic DNA was extracted from peripheral venous blood leukocytes using phenol chloroform methodology. Polymerase chain reaction was used to amplify the multidrug resistance protein 3 (MDR3) R652G fragment, and products were sequenced using the ABI 3100 Sequencer. RESULTS The R652G single nucleotide polymorphism (SNP) was significantly more frequent in healthy infants (allele frequency 8.0%) than in patients (allele frequency 2.60%) (P < 0.05), odds ratio, 0.29; 95% confidence interval, 0.12-0.84. The conjugated bilirubin in patients with the AG genotype was significantly lower than in those with the AA genotype (44.70 +/- 6.15 micromol/L vs 95.52 +/- 5.93 micromol/L, P < 0.05). CONCLUSION MDR3 R652G is negatively correlated with idiopathic infant cholestasis. Children with the R652G SNP in Guangxi of China may have reduced susceptibility to infant intrahepatic cholestasis.

To evaluate the clinical value in diagnosis and treatment of lens subluxation using ultrasound biomicroscopy (UBM).This study comprised 29 patients (32 eyes) that had cataract with subluxated lenses due to different causes admitted into our hospital between November 2000 and January 2002. All eyes received UBM examination preoperatively and postoperatively. Capsular tension ring (CTR) implantations were performed using different technique according to UBM examination. Then all patients received phacoemulsification and intraocular lens (IOL) implantation. The location of IOL and CTR and complications were evaluated postoperatively.Different kinds of subluxated lens shown different manifestations in UBM. The degree of zonular defect can be evaluated with UBM preoperatively. With UBM examination preoperatively, extent of lens subluxation less than 1/2 quadrant in 19 eyes while more than 1/2 quadrant in other 13 eyes were observed. Postoperative UBM examination in this series shown that CTRs were holding in place except one attached to the iris root. IOLs in 29 eyes were in proper position while IOLs in 3 patients were slightly tilted.The degree and extent of lens subluxation can be evaluated using UBM examinations preoperatively, which is necessary in the selection of surgical protocol. With postoperative UBM examinations, a precise observation on the actual location of CTR and IOL can be achieved to produce an objective evaluation of the surgical outcomes.