Administration, Oral ; Anti-Bacterial Agents ; administration & dosage ; Cytomegalovirus Infections ; drug therapy ; immunology ; virology ; Erythromycin ; administration & dosage ; Female ; Humans ; Infant ; Male ; T-Lymphocyte Subsets ; immunology ; Virus Replication

Adenocarcinoma, Bronchiolo-Alveolar ; metabolism ; pathology ; Antigens, CD34 ; metabolism ; Diagnosis, Differential ; Female ; Hemangioendothelioma, Epithelioid ; metabolism ; pathology ; surgery ; Hemangioma ; metabolism ; pathology ; Hemangiosarcoma ; metabolism ; pathology ; Humans ; Lung Neoplasms ; metabolism ; pathology ; surgery ; Middle Aged ; Vimentin ; metabolism

Objective To analyze the karyotypes of 11 cases of Turner syndrome with marker chromosome,and study the phenotypic effects resulting from the abnormal karyotype.Methods Eleven Turner syndrome patients had a mosaic karyotype and carried a marker chromosome,and 6 marker chromosomes were ring chromosomes.Their karyotypes were showed as mos.45,X/46,X,+mar or mos. 45,X/46,X,+r.Fluorescence in situ hybridization(FISH)technique with X/Y centromere probes was performed to determine the origin of the marker chromosome.Reverse chromosome painting technique was used to identify the breakpoints of two largest markers.Phenotype effects with different chromosome breakpoints were compared.Results All the 11 marker chromosomes were ring X chromosomes.The breakpoints of the r(X)were involved in Xp22,Xq22,Xq24 and Xq26,etc.Conclusions The marker chromosomes in Turner syndrome mainly originate from X chromosome and form ring chromosome X.Each r (X)in our patients was mosaic,indicating it was originated from mitosis error during early embryo development.To analyze the origin of the marker chromosome and the breakpoint of r(X)will provide guidance for the therapy and prognosis of the Turner syndrome patient.

Glycerol kinase deficiency (GKD), a rare X-linked recessive disorder, is classified into two types: isolated and complex. Complex GKD is an Xp21 contiguous gene deletion involving the glycerol kinase locus together with the adrenal hypoplasia congenita (AHC) or Duchenne muscular dystrophy (DMD) loci or both. Its clinical features depend on the involved loci. GKD can be confirmed by an elevated urinary glycerol concentration tested by gas chromatography mass spectrometry (GC/MS). The three cases reported here were all male, presenting symptoms from neonatal period. The predominant clinical profile was characterized by hypoadrenocorticism, glyceroluria and Duchenne muscular dystrophy. After receiving a low fat diet and glucocorticoid replacement, they improved with relieved symptoms of hypoadrenocorticism. But they had significant developmental delays and myasthenia. In the follow-up two of them died of adrenal crisis.
Adrenal Insufficiency ; diagnosis ; Diagnosis, Differential ; Genetic Diseases, X-Linked ; diagnosis ; therapy ; Glycerol ; urine ; Glycerol Kinase ; deficiency ; Humans ; Infant ; Male

When the glomerular mesangial cells of rats were cultured in vitro at high glucose concentration,the activity of extraeellular signal-regulated kinase(ERK),the expression of transforming growth factor-?_1(TGF-?_1)mRNA and the content of typeⅣcollagen in the supematant were higher than those at normal glucose concentration.These effects were inhibited by fluvastatin.The results showed that the activation of ERK signal transduction pathways appeared to play a role in the onset and progression of diabetic nephropathy. Furthermore,fluvastatin could protect the kidney by inhibiting ERK signal transduction pathway and TGF-?_1 expression.

OBJECTIVETo study the changes and clinical significance of serum levels of 25-(OH)D(3) and total IgE in children with asthma.

METHODSThirty children with asthma, 40 children with asthmatic bronchitis, and 40 healthy children were enrolled. Double-antibody radioimmunoassay was used to detect the levels of serum 25-(OH)D(3) and total IgE.

RESULTSSerum 25-(OH)D(3) levels (18±3 ng/Ml)decreased significantly in the asthmatic group compared with those in the asthmatic bronchitis group (43±3 ng/mL) and the control group (43±3 ng/mL) (P<0.01). In contrast, serum total IgE levels (192±16 IU/mL) increased significantly in the asthmatic group compared with those in the asthmatic bronchitis group (123±14 IU/mL) and the control group (118±15 IU/mL) (P<0.01). Serum 25-(OH)D(3) levels were negatively correlated with serum total IgE levels in asthmatic children (r=-0.783, P<0.01). There were no correlation between serum 25-(OH)D(3) levels and serum total IgE level in the asthmatic bronchitis and the control groups.

CONCLUSIONS25-(OH)D(3) may play an important role in the pathogenesis of asthma. The increased serum 25-(OH)D(3) level may inhibit total IgE expression, suggesting that increasing serum 25-(OH)D(3) level might be a new option for the prevention and treatment of asthma.

Asthma ; blood ; etiology ; Calcifediol ; blood ; Child ; Child, Preschool ; Female ; Humans ; Immunoglobulin E ; blood ; Infant ; Male

Adolescent ; Aortic Valve ; abnormalities ; Aortic Valve Insufficiency ; complications ; pathology ; surgery ; Aortic Valve Stenosis ; complications ; pathology ; surgery ; Child ; Endocarditis ; complications ; pathology ; surgery ; Female ; Heart Defects, Congenital ; complications ; pathology ; surgery ; Heart Valve Prosthesis Implantation ; Humans ; Male ; Rheumatic Heart Disease ; complications ; pathology ; surgery

OBJECTIVETo study the gene expression of metallothionein 1 (MT-1) isoforms in human peripheral blood lymphocytes (HPBLs).

METHODSThe expression of mRNA representing the seven active MT-1 genes was determined in HPBLs by quantitative RT-PCR before and after exposure to cadmium.

RESULTSBasal expressions of MT-1X, and MT-1A in HPBLs were similar to expression of housekeeping gene. In contrast, the basal gene expressions of MT-1H, 1F, 1E, and 1G were a little transcripts in human HPBLs. No signal was detected for MT-1B. There was a sex difference (P < 0.05). in basal gene expression of MT-1E. The levels of gene expression of MT-1A, 1E, 1F, 1G, 1H, and 1X increased, but the level of MT-1B did not increase after exposure to cadmium.

CONCLUSIONSGene expressions of MT-1G, MT-1H, MT-1F, and MT-1X in HPBLs can be used as a potential biomarker of cadmium exposure.

Adult ; Biomarkers ; metabolism ; Cadmium ; pharmacology ; Cells, Cultured ; DNA Primers ; Female ; Gene Expression Regulation ; drug effects ; Humans ; Lymphocytes ; metabolism ; Male ; Metallothionein ; genetics ; metabolism ; Protein Isoforms ; genetics ; metabolism ; Reverse Transcriptase Polymerase Chain Reaction

Aged ; Female ; Hodgkin Disease ; diagnosis ; pathology ; Humans ; Reed-Sternberg Cells ; pathology