Humans ; Infant, Newborn ; Male ; Poland Syndrome

Objective The purpose of this paper is to screen inborn errors of meta bolism (IEM) by analyzing urinary components, so as to provide laboratory guide for their diagnosis and therapy.Methods Urine samples of patients suspected to have IEM were collec- ted.Urea was de compo sed with urease and n-heptadecanoic acid was added as internal standard.Protein was denatured with ethanol and precipitate was removed by centrifugation,dried b y evaporation, the residue was trimethylsilylly derivatized with BSTFA/TMCS,and then analyzed with GC-MS for quantification of organic acids, amino acids,suga rs, polyols, purines and pyrimidines, simultaneously. This procedure is denom inated as urease pretreatment-gas chromatography-mass spectrometry (UP-GC-MS) internationally.Results Urinary samples of 327 patients from 6 provinces, cities and autonomous regions were analyzed,and 16 kinds of 27 cases of IEM were screened out with a positiv e rate of 8.26%,among which there were 3 cases of hyperphenylalaninemia,3 cases of glyceroluria,3 cases of Leigh syndrome, 2 cases of propionic acidemia, 2 case s of methylmalonic aciduria, 2 cases of von Gierke′s disease, 2 cases of fructo se-1,6-diphosphatase deficiency, 2 cases of fructosuria, 1 cases of multiple car boxylase deficiency, 1 cases of glutaric acidemia typeⅠ, 1 cases of maple sy rup urine disease, 1 cases of hyperglycinemia, 1 cases of 3-aminoisobutyric acid uria,1 cases of adult-onset typeⅡcitrullinemia,1 cases of galactosemia and 1 ca ses of Fanconi′s syndrome.Several IEM patients above had died,but satisfactory therapeutic effects had been achieved in some diseases,in cluding multiple carboxylase deficiency,methylmalonic aciduria and galactosemia. Other patients′ condition remained to be followed up.Conclusion Analysis of urinary components by UP-GC-MS provides a valuable tool for screenin g of IEM and the results will help to provide effective diagnostic and therapeut ic guide for the patients. J Appl Clin Pediatr,2005,20(2):142-144

Objective To understand the current situation of occupational exposure and occupational safety attitudes among nursing students in Kunming Medical University, and to find effective interventions to improve nurses' occupational safety,and to reduce occupational exposure.Methods 854 students in Kunming Medical University were investigated by a questionnaire survey, including Demographic characteristics, Occupational exposure conditions, Occupational safety attitude and Gathers, quit intention . The correlations between occupational safety attitudes and occupational exposure were analyzed with Simple Linear Correlation.Results There were 94.30%female respondents,and only 5.70%male respondents.The average age of respondents was 22.52±2.90 years. The Simple Linear Correlation analysis showed that correlation between Negative attitude and occupational exposure was positive correlated, the occupational exposure and Support from managers, and Optimistic were negative correlation ( <0.05) .Conclusions Occupational safety and attitude are related to occupational exposure. Nursing students should apply standardized operation to improve the professional quality and ability. Schools should strengthen the education of occupational protection for nursing students. Hospital management should regularly organize nurses to study occupational exposure protection knowledge,give full affirmation of the nurse's achievements in the work, and offer certain reward appropriately.

Child ; Humans ; Lupus Nephritis ; complications ; Male ; Nephritis, Interstitial ; etiology ; Prognosis

Cryptococcosis ; etiology ; pathology ; Glycogen Storage Disease Type I ; complications ; pathology ; Humans ; Infant ; Male ; Meningitis, Fungal ; etiology ; pathology

OBJECTIVETo investigate the change of the subfractions in existence (big and small polymers) of pulmonary surfactant (PS) and their influence on the decrease in PS activity during early postburn stage.

METHODSForty rabbits were employed in the study and were randomly divided into pre-burn, 0.5 postburn hour (PBH), 2 PBH, 6 PBH and 12 PBH groups with 8 in each group. The BALF (bronchial alveolar lavage fluid) was harvested from each rabbit. The BALF samples were centrifuged, and the supernatant (small polymer) and precipitation (big polymer) were harvested for the determination of the contents of the total phospholipids, lecithin, total protein, and albumin in both polymers.

RESULTSCompared with those in pre-burn group, the above chemical contents of PS in big polymer exhibited no change after burn (P > 0.05), but the contents of albumin and total protein increased obviously in small polymer (P < 0.01). In addition, all the contents in the small polymer increased with the elapse of time. The percentage of lecithin in total phospholipids in small polymers decreased along with the passage of time. The pre-burn contents of total phospholipids, lecithin, TP, albumin, and the percentage of lecithin in total phospholipid in small polymer were (2.23 +/- 0.40),(1.54 +/- 0.11), (16.67 +/- 1.34), (3.65 +/- 0.15) mg/ml and (77.2 +/- 3.7)%, respectively. The above indices in small polymer were (3.15 +/- 0.30), (1.77 +/- 0.08), (106.59 +/- 5.50), (11.21 +/- 0.92) mg/ml and (57.2 +/- 3.5)% respectively at 6PBH.

CONCLUSIONThe ratio of small to big polymers increased obviously, which might be an important factor in inducing the decrease in PS activity during early postburn stage leading finally to pulmonary injury.

Albumins ; analysis ; Animals ; Female ; Male ; Phosphatidylcholines ; analysis ; Phospholipids ; analysis ; Pulmonary Surfactants ; metabolism ; Rabbits ; Smoke Inhalation Injury ; metabolism

UNLABELLEDOBJECTIVE To observe the clinical efficacy by Qingying Huoxue Decoction (QHD) combined ursodeoxycholic acid (UDCA) in treating patients with early and mid-term primary biliary cirrhosis (PBC). METHODS Totally 78 patients were randomly assigned to the treatment group and the control group, 39 in each group. All patients received basic treatment and took UDCA (at the daily dose of 13-15 mg/kg). Patients in the treatment group took QHD, one dose per day. The treatment course for all was 6 weeks. Clinical efficacy, gamma-glutamyl transferase (γ-GGT), alkaline phospatase (ALP), TBIL, alanine aminotransferase (ALT), and aspartate transaminase (AST) were observed before and after treatment. RESULTS Totally 21 (53. 8%) patients obtained complete response in the treatment group, with statistical difference when compared with that of the control group (11 cases, 30. 8%). Levels of GGT, ALP, ALT, AST, and TBIL decreased in the two groups after treatment (P < 0.01). Levels of ALP, GGT, and TBIL were obviously lower in the treatment group than in the control group (P < 0.05).

CONCLUSIONSQHD combined UDCA in treating early and mid-term PBC patients was superior to the effect of using UDCA alone. It also could improve patients' liver function.

Alanine Transaminase ; metabolism ; Aspartate Aminotransferases ; metabolism ; Drug Combinations ; Drugs, Chinese Herbal ; therapeutic use ; Humans ; Liver Cirrhosis, Biliary ; drug therapy ; Ursodeoxycholic Acid ; therapeutic use ; gamma-Glutamyltransferase ; metabolism

OBJECTIVETo study the genome sequence of hepatitis A virus L-A-1 strain which has been applied for live attenuated vaccine production in China, to compare with other HAV strains, to understand some characteristics of L-A-1 strain, and to find the mechanism of attenuation and cell adaptation.

METHODSGenome fragments were prepared by antigen-capture PCR from infected cell (2BS), PCR products were cloned into T vector, sequenced and analyzed by using bioinformatics program.

RESULTSAnalysis of the genomic sequences(nt 25-7,418) showed that the open reading frame contains 6,675 nucleotides in length encoding 2,225 amino acids. Sequence homology comparison showed 98.00% and 94.00% homology at nucleotide level, and 98.51% and 98.65% homology at amino acid level with international strains MBB and HM 175, respectively. Through comparison with other attenuated, cell adapted and cytopathic effect (CPE) strains, L-A-1 strain had mutation at nt 152, 591, 646, 687 and insertion at nt 180-181 in 5?NTR and had mutation at nt 3,889 (aa 1 052-Val) in 2B region, these mutations and insertion are molecular basis for cell adaptation; mutation at nt 4,185 (aa 1 152-Lys) in 2C region should be attenuated marker; deletion in 3A region (nt 5,020-5,025) that caused two amino acids deletion is virus fast growth basis.

CONCLUSIONThrough analyzing L-A-1 strain genomic sequence, certain sites related to cell adaptation and attenuation were found.

Adaptation, Biological ; genetics ; Amino Acid Sequence ; Base Sequence ; Gene Deletion ; Genome, Viral ; Hepatitis A Vaccines ; genetics ; Hepatitis A virus ; genetics ; growth & development ; Mutation ; Open Reading Frames ; genetics ; Sequence Homology ; Vaccines, Attenuated ; genetics

OBJECTIVETo study the correlation of tenascin-c (TN-C) degradation with relapse and/or metastasis in stage-I non-small cell lung cancer (NSCLC) in order to search for a potential biomarker for predicting recurrence, and also to investigate the molecular mechanism of TN-C degradation. Methods The fragment of TN-C in 63 surgically treated stage-I NSCLC was detected by Western blotting, and the activity of matrix metalloproteinases (MMPs) was also examined by gelatin zymography.

RESULTSTN-C degradation fragment was positively detected in 12 of 63 patients, and 9 of these 12 patients (75.0%) were found to develope recurrence during follow-up. The recurrence-free survival at 4 years was 28.1% in patients with positive TN-C degradation versus 82.1% in those without (P < 0.001), and which was 76.6% at 10 years in the patients without TN-C degradation. The activity of MMP-2 in the patients with positive TN-C degradation was also found to be significantly higher than that in the patients without (P < 0.001).

CONCLUSIONTenascin-c degradation fragment may be a reliable biomarker for predicting recurrence and/or metastasis in the early NSCLC, and matrix metalloproteinase-2 may be a responsible proteinase for degradation of tenascin-c.

Aged ; Aged, 80 and over ; Biomarkers, Tumor ; Bone Neoplasms ; metabolism ; secondary ; Brain Neoplasms ; metabolism ; secondary ; Carcinoma, Non-Small-Cell Lung ; metabolism ; pathology ; surgery ; Female ; Follow-Up Studies ; Humans ; Lung Neoplasms ; metabolism ; pathology ; surgery ; Male ; Matrix Metalloproteinase 2 ; metabolism ; Matrix Metalloproteinase 9 ; metabolism ; Middle Aged ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Pneumonectomy ; Tenascin ; metabolism

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