Acute metabolic crisis induced by vaccination in seven Chinese patients.

Seven Chinese patients (5 males and 2 females) with vaccination-induced acute metabolic crisis were reported. Only one male with 21-hydroxylase deficiency had been diagnosed before vaccination. In the remaining six patients, the preexisting diagnoses were not confirmed before the vaccination.

Adenosine A(2b) receptor is highly expressed in human hepatocellular carcinoma.

High levels of adenosine accumulate in hypoxic tissues during the rapid growth of tumors, suggesting activation of adenosine receptors may facilitate tumor progress. The relevance of adenosine receptors to hepatocellular carcinoma (HCC), in particular the adenosine A(2b) receptor (A(2b)), is not yet fully understood. The aim of this study was to assess whether A(2b) was differentially expressed in normal and cancerous tissues and evaluate the clinicopathological correlation of A(2b) level in HCC.

Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.

Background: Leigh syndrome is an inherited neurodegenerative disease that emerges in infancy and childhood and presents with a clinically heterogeneous variety of neuromuscular and non-neuromuscular disorders. It can result from the inheritance of mutations in either nuclear or mitochondrial DNA. In the current study, we performed a retrospective study in 65 patients in order to investigate the clinical and genetic characteristics of Leigh syndrome in Chinese patients.

Serum soluble interleukin-2 receptor levels in patients with chronic hepatitis B virus infection and its relation with anti-HBc.

Aim: To investigate the relationship between serum soluble interleukin-2 receptor (sIL-2R) level and anti-HBc in patients with chronic hepatitis B virus (HBV) infection.

Methods: Sera from 100 patients with chronic HBV infection and 30 healthy controls were included in this study. The patients were divided into group A [HBsAg (+), HBeAg (+) and anti-HBc (+), n=50] and group B [HBsAg (+), HBeAg (+) and anti-HBc (-), n=50].

[Renal impairment in patients with methylmalonic aciduria: a review of five cases].

Objective: The renal impairment in children with methylmalonic aciduria has seldom been reported. To improve knowledge in this aspect, clinical data of five cases with methylmalonic aciduria with renal involvement were analyzed and the results are reported in this paper, which may be of some help in early diagnosis, treatment and in achieving favorable prognosis.

Methods: Urine methylmalonic acid was measured by gas chromatography-mass spectrometry analysis, if the content exceeded the normal range and vitamin B12 deficiency was excluded, the diagnosis of methylmalonic aciduria was confirmed.

[Assays on nutrient and effective ingredients in different parts of Cordyceps militaris].

Objective: To analysis the nutrient and effective ingredients of in Cordyceps militaris and make the best use of its medical value.

Method: Adenosine, cordycepin, polysaccharides, cordyceps acid, protein and fat in different parts of C. militaris were extracted, they are quantified by HPLC and other colorimetric analysis.

Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.

Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel.

Iptakalim hydrochloride protects cells against neurotoxin-induced glutamate transporter dysfunction in in vitro and in vivo models.

Iptakalim hydrochloride (Ipt), a novel antihypertensive drug, exhibits K(ATP) channel activation. Here, we report that Ipt remarkably protects cells against neurotoxin-induced glutamate transporter dysfunction in in vitro and in vivo models. Chronic exposure of cultured PC12 cells to neurotoxins, such as 6-OHDA, MPP+, or rotenone, decreased overall [3H]-glutamate uptake in a concentration-dependent manner.

[Clinical and laboratory screening studies on urea cycle defects].

Objective: To investigate the incidences of urea cycle defects (UCDs) in the patients with hyperammonemia and study their etiology, clinical and laboratory features.

Methods: In the past 7 years, 26 cases (10.2%) of UCDs were detected from 254 patients with hyperammonemia.

[Preliminary study on autoregulation of samR involved in development and differentiation of Streptomyces ansochromogenes].

The previous result showed that samR plays an important role in the development progress of Streptomyces ansochromogenes. It was reported that the differentiation progress of S. ansochromogenes was accelerated by a recombinant plasmid containing an extra copy of samR gene.

[Phenotype heterogeneity associated with mitochondrial DNA A3243G mutation].

Objective: To discuss the clinical characteristics associated with mitochondrial DNA A3243G mutation.

Methods: Clinical manifestations as well as results of brain CT and/or MRI scanning, blood level of lactic acid and muscle biopsy results of 25 mitochondrial encephalomyopathies patients whose A3243G mutations were analyzed.

Results: Although all of the 25 patients carried mtDNA A3243G point mutation, their clinical manifestations varied greatly.

[Mutations in exon 7 of the phenylalanine hydroxylase (PAH) gene in chinese patients with phenylketonuria].

To study mutation in exon 7 of the gene for the phenylalanine hydroxylase(PAH), the mutations in exon 7 and flanking sequence of PAH gene were detected by means of SSCP analysis and DNA sequencing, in 147 unrelated Chinese children with phynelketonuria and their parents. Thirteen different mutations, including 11 missense, 1 deletion and 1 splice mutation, were revealed in 90/294 mutant alleles (30.61%).

Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.

Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propionic acidemia (23 cases), ornitine transcarbamylase deficiency (22 cases), and multiple carboxylase deficiency (15 cases).

Protective effects of tumor necrosis factor alpha antibody and ulinastatin on liver ischemic reperfusion in rats.

Aim: To study the protective effects of tumor necrosis factor alpha (TNF alpha) antibody and ulinastatin on liver ischemic reperfusion in rats.

Methods: One hundred and twenty male SD rats were randomly divided into four groups: normal control group, ischemic group, TNF alpha antibody group and TNF alpha antibody + ulinastatin group. The animals were killed at 0, 3, 6, 9, 12 h after ischemia for 60 min and followed by reperfusion.

Kappa-opioid receptor stimulation inhibits growth of neonatal rat ventricular myocytes.

The effects of trans-(+/-)-3,4-dichloro-N-methyl-N-[2-(1-pyrrolidinyl)-cyclohexyl]-benzeneacetamide methanesulfonate salt (U50,488H), a selective kappa-opioid receptor agonist, on growth in neonatal ventricular myocytes were determined. In 15% serum culture medium, U50,488H at 0.1-1 microM significantly reduced the protein content, [3H]leucine uptake and cell size of the myocytes.

Tumor necrosis factor alpha antibody prevents brain damage of rats with acute necrotizing pancreatitis.

Aim: To study the protective effects of tumor necrosis factor alpha (TNFalpha) antibody on pancreatic encephalopathy in rats.

Methods: One hundred and twenty SD rats were randomly divided into normal control group, acute necrotizing pancreatitis group and TNFalpha antibody treated group. Acute hemorrhage necrotizing pancreatitis model in rats was induced by retrograde injection of 50 g/L sodium taurocholate into the pancreatobiliary duct.

Relationship between urokinase-type plasminogen activator receptor and vascular endothelial growth factor expression and metastasis of gallbladder cancer.

Aim: To investigate the relationship of urokinase type plasminogen activator receptor (uPAR) and vascular endothelial growth factor (VEGF) expression with clinical and pathological characteristics of human gallbladder cancer.

Methods: uPAR and VEGF expressions in 68 gallbladder cancer tissues were detected with anti-receptor immunohistochemical stain.

Results: Expression rate of uPAR was 57.

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle.

Citrin is a mitochondrial aspartate glutamate carrier primarily expressed in the liver, heart, and kidney. We found that adult-onset type II citrullinemia is caused by mutations in the SLC25A13 gene that encodes for citrin. In this report, we describe the frequency of SLC25A13 mutations, the roles of citrin as a member of the urea cycle and as a member of the malate-aspartate shuttle, the relationship between its functions and symptoms of citrin deficiency, and therapeutic issues.

[Relationship between neurotoxicity of 6-hydroxydopamine and glutamate transport].

Aim: To study the relationship of neurotoxicity of 6-hydroxydopamine (6-OHDA) and the function of glutamate transporter.

Methods: Using in vivo microdialysis together with high performance liquid chromatography (HPLC) to detect the alteration of glutamate in the striatum and extracellular fluid of the PC12 cell. The rate of apoptosis and the activity of PC12 cells are read in a flow cytometer and a photometer for enzyme-labeled assays.

[Diagnosis and treatment of biotinidase deficiency-clinical study of six patients].

Objective: To investigate the clinical and neurodevelopmental profiles of patients with biotinidase deficiency and to determine the efficacy of current therapy with respect to outcome.

Methods: Six patients aged from 3 months to 14 years with biotinidase deficiency were confirmed by urinary organic acid analysis with gas chromatography/mass spectrometry (GC/MS) and biotinidase assay on dried blood spots. Biotin was supplemented individually (10-40 mg/d).

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.

Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 and 103 (4) NICCD patients in Japan (and other countries). From preliminary population analysis of the known nine SLC25A13 mutations, we found that the carrier frequency is high in China (1/79), Taiwan (1/98), and Korea (1/50) as well as Japan (1/69), suggesting that many patients with citrin deficiency exist in East Asia.

Expression of PCNA and CD44mRNA in colorectal cancer with venous invasion and its relationship to liver metastasis.

Aim: To investigate the expression of proliferating cell nuclear antigen (PCNA) and CD44mRNA in colorectal cancer with venous invasion and its relationship with liver metastasis.

Methods: Reverse transcriptase-polymerase chain reaction (RT-PCR) was used to detect the expression of PCNA and CD44mRNA in 31 cases of colorectal cancer with venous invasion.

Results: Positive expression rates of PCNA and CD44mRNA in colorectal cancer were higher than those without liver metastasis (P<0.

Influence of liver nonparenchymal cell infusion combined with cyclosporin A on rejection of rat small bowel transplantation.

Aim: To investigate the effect of liver nonparenchymal cell infusion combined with cyclosporin A (CsA) on rejection of heterostrain rat small bowel transplantation.

Methods: The liver nonparenchymal cell suspension was prepared by density gradient centrifugation method with Percoll centrifugal solution. Heterotopic small bowel transplantation was performed.