Antiporters ; genetics ; Base Sequence ; Female ; Glycogen Storage Disease Type I ; diagnosis ; genetics ; Humans ; Infant ; Monosaccharide Transport Proteins ; genetics ; Mutation ; Polymerase Chain Reaction ; Sequence Analysis, DNA

Objective To carry out the detection of JAGI gene in children with chronic cholestasis and to im-prove the diagnostic level and understanding of Alagille syndrome. Methods Two cases of chronic cholestasis with multiple organ involvement were selected as the research subjects and their clinical data,laboratory test results were col-lected. Two milliliter peripheral intravenous heparin anticoagulan blood was drawn from each patient. All fragments of 26 exons of the JAGI gene were amplified by polymerase chain reaction - sequence based on typing method. Results One patient with chronic cholestasis,heart murmur and dysmorphic face showed bile duct paucity in liver biopsy and a novel heterozygous mutation c. 809 809delG(p. G270Dfs*142)in 6 exon. Abnormal amino acid replaced JAG1 protein and resulted in truncation of the JAG1 protein. The part of epidermal growth factor(EGF)like repeats region loss and the cysteine rich region completely lost. One case with typical chronic cholestasis and dysmorphic face showed a known IVS20 - 2 5delTAAG heterozygous mutation which resulted in splice site changes. Conclusion A novel JAGI gene mutation c. 809 809delG(p. G270Dfs*142)is helpful to screen JAGI gene of Notch signal transduction pathway for chronic cholestasis with multiple organs involvement in children.

Objective To investigate the incidence of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)in neonates with idiopathic neonatal cholestasis (INC)in Nanjing,China,SLC25A13 gene mutations in these neonates,and clinical features.Methods A total of 152 neonates with INC,who were admitted to the Affiliated Nanjing Children's Hospital of Nanjing Medical University from Sep-tember 2009 to August 2013,underwent gene analysis for detecting SLC25A13 gene mutations.The neonates were divided into NICCD group,who had been diagnosed definitely,and INC group at a ratio of 1∶2,considering the age and gender.Several biochemical indices were compared between the two groups.Comparison of continuous data between the two groups was made by Mann-Whitney U test after Bonferroni correction.Results There were 21 confirmed cases of NICCD (21/152,13.82%)among the 152 neonates with INC;five types of SLC25A13 mutations were identified in the 21 neonates with NICCD,including 851_854del (27/42,64.29%),IVS6+5 G→A (7/42, 16.67%),1638ins23 (5/42,11.90%),IVS11 +1 G→A (2/42,4.76%),and Q259X (1/42,2.38%).The alanine aminotransferase (ALT)level,aspartate aminotransferase (AST)level,bile acid concentration,albumin level,fasting blood glucose,blood ammonia,and prothrombin time for the NICCD group were 39.42 ±23.40 U/L,124.85 ±92.65 U/L,142.43 ±24.34μmol/L,30.66 ±2.70 g/L,2.79 ± 0.54 mmol/L,117.57 ±27.88 μmol/L,and 14.03 ±2.79 s,respectively,versus 136.02 ±113.67 U/L,226.12 ±129.26 U/L,80.47 ± 31.53 μmol/L,36.87 ±4.96 g/L,3.14 ±0.45 mmol/L,76.43 ±20.80 μmol/L,and 11.40 ±1.55 s for the INC group.The NICCD group had significantly lower ALT and AST levels than the INC group (Z=-5.02,P=0.000;Z=-3.66,P=0.000);the NICCD group had a significantly higher bile acid concentration than the INC group (Z=-5.58,P=0.000);the NICCD group had significantly lower albumin level and fasting blood glucose than the INC group (Z=-4.52,P=0.000;Z=-2.56,P=0.010);the NICCD group had a significantly higher blood ammonia level than the INC group (Z=-4.75,P=0.000);the NICCD group had a significantly longer prothrombin time than the INC group (Z=-4.10,P=0.000).Conclusion Citrin deficiency due to SLC25A13 gene mutations is an im-portant cause of INC in Nanjing.The three most common mutations are 851_854del,IVS6+5 G>A,and 1638_1660dup23,which account for 92.86% of the SLC25A13 gene mutations.More attention should be paid to clinical analysis and detection of SLC25A13 gene mutations to confirm the diagnosis of NICCD.

Objectives To investigate the clinical features of progressive familial intrahepatic cholestasis type 2 (PFIC2) and to illustrate the importance of genetic diagnosis. Methods The mutations in 27 exons of ABCB11 encoding bile salt export pump (BSEP) were identiifed using polymerase chain reaction (PCR) and direct DNA sequencing in 6 children with suspected PFIC2. The pathogenicity of the newly identiifed mutations were predicted by SIFT, PolyPhen-2, SNPs&GO software. The clini-cal features and laboratory examinations were reviewed. Results Four disease-causing mutations, p.R928*, p.E554K, p.R575Q and p.Y337H were identiifed, and the last three mutations were novel. These three kinds of novel mutations can cause the disease. Two children with genetic diagnosis had such manifestations as onset within a month after birth, jaundice, hepatosplenomegaly, upset, increased levels of total bilirubin and direct bilirubin, GGT<100 U/L and high levels of total bile acid. Conclusions Genetic diagnosis is a potent tool for clinical diagnosis of PFIC2.

OBJECTIVE To investigate the distribution of bacteria in general ICU then discuss the susceptible factors and the treatment.METHODS A retrospective analysis of clinical information was performed on 123 patients diagnosed infection who stayed in ICU from May 2002 to May 2004.RESULTS Most of bacteria resulted in infection of general ICU were Gram-negative(62.88%) and then Gram-positive(19.65%). Fungal infection accounted for 17.47%.Pseudomonas aeruginosa occupied the highest percentage among Gram-negative bacteria.Most of Gram-positive bacteria were Staphylococcus aureus and all of them were MRS.The infection site in ICU focused on lower respiratory tract(89.09%).The second was urinary tract(11.79%).CONCLUSIONS Most of the bacteria causing infection in general ICU locate in respiratory tract.They are mainly Gram-negative.All of the Gram-positive bacteria are MRS.The risk factors of hospital-acquired infection are related with patient′s age,underlying disease,intensive care time,ventilation time and invasive operation.

OBJECTIVE To investigate the characteristic of Gram-positive bacteria in general ICU then discuss the susceptible factors and the treatment.METHODS A retrospective analysis of clinical information was performed on patients with Gram-positive infection in ICU from May 2002 to May 2004.RESULTS Most of Gram-positive bacteria resulted in infection in general ICU were Staphylococcus aureus and all of them were MRSA.The infective site focused on lower respiratory tract(84.44%).The second was catheter(8.89%).CONCLUSIONS The risk factors of hospital-acquired infection are relative with patient's age,underlying diseases,stay time in ICU,ventilated time and invasive operation.

Objective Survey the classification on diseases of patients in hospital. Discuss personnel arrange-ment of nursing staff. Methods Survey and star sickbed number,CD rate/month,nurse number accounted on nursing level and sickbed-nurse ratio in 2007, discuss personnel arrangement of nursing staff. Results It is different that the nurse number accounted by two means, Z=2.234,P=0.025. The correlation about CD rate and nurse number in theories: r=0.782,p=0.004, nurse number in theories= CD ratex0.51-17.11, F=16.543,p=0.003.Conclusion CD rate should be reasonable personnel arrangement of nursing staff.

OBJECTIVE: To explore the clinical features and genetic basis of a patient with glycogen storage disease type VI (GSD-VI). METHODS: Clinical data of the patient was collected. Genomic DNA was extracted from peripheral blood samples of the proband and his parents. Genetic variants were detected by using whole exome sequencing. Candidate variants were verified by Sanger sequencing followed by bioinformatics analysis. RESULTS: The proband presented fasting hypoglycemia, hepatomegaly, growth retardation, transaminitis, metabolic acidosis and hyperlactatemia. Liver biopsy indicated GSD. Novel compound heterozygous PYGL gene variants (c.2089A>G/c.158_160delACT) were detected in the proband. Compound heterozygosity was confirmed by Sanger sequencing of the patient's genomic DNA. Provean and MutationTaster predicted the two variants as deleterious and the variant sites are highly conserved. CONCLUSION The compound heterozygous variants (c.2089A>G/c.158_160delACT) of PYGL gene probably underlay the GSD in the patient. The two novel variants have expanded the spectrum of PYGL gene variants and provided the basis for genetic counseling of the family.
Child ; Family ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Mutation ; Whole Exome Sequencing

Objective: To explore the association between mobile phone dependence and constipation of college students in Yunnan Province, and to provide a data reference for improving and preventing constipation in college students. Methods: A questionnaire survey was conducted among 9 960 college students from three universities in Kunming and Dali, Yunnan Province. The Self rating Questionnaire for Adolescent Problematic Mobile Phone Use was used to assess mobile phone dependence symptoms, and the questionnaire was conducted to collect the constipation information of college students. Data were analyzed with SPSS 23.0. Chi square test was used to compare the reporting rates of detection in college students with different demographic characteristics. The association between mobile phone dependence and constipation was analyzed by binary Logistic regression models. Results: The detection rate of mobile phone dependence symptoms was 30.93%, and the reporting rates of constipation was 24.46% of college students in Yunnan Province. After collcted for the demographic variables and other confounding effects, the analysis results showed that:withdrawal symptoms of mobile phone dependence( OR=1.29, 95%CI =1.09-1.54), physical and mental health impacts of mobile phone dependence ( OR=1.25, 95%CI =1.10-1.43) and craving of mobile phone dependence ( OR=1.20, 95%CI =1.06-1.36) were associated with constipation in college students( P <0.01). Conclusion Mobile phone dependence may increase the risk of constipation of college students in Yunnan Province, so health education should be strengthend.