Objective To study the expression of NKx2.5 on the heart of offspring during the development of embryo,whose mother is deficient of folic acid.Methods 1.Control group involving 18 rats and study group involving 18 rats were chosen from the total 36 adult female SD rats randomly copulate with the male normal rats after feeding different fodder for 2 weeks.The heart of the 13.5 days,17.5 days embryos and the newborns were obtained;2.the expression of NKx2.5mRNA by RT-PCR was observed;3.the expression of NKx2.5 protein by Western-blotting was investigated.Results 1.The expression of NKx2.5 mRNA of study group was weaker than control group in heart of the 13.5 days,17.5 days embryos and the newborns(P

0.05),but the expression in controls were negative.The expression levels of PRAME gene at remission was decreased obviously,but increased again when the patients relapsed.Conclusions Expression of PRAME gene has a high level in childhood acute leukemia.The dynamic changes are closely related with the prognosis.It can be regarded as a candidate for detecting minimal residual disease in acute leukemia,and may have important implications for estimating the prognosis and guiding the chemical therapy.

Objective To report the clinical effect of primary percutaneous coronary intervention(PCI)in patients with acute myocardial infarction(AMI).Methods A retrospective study was accomplished on the clinical data of 13 AMI patients who underwent PCI from March 2004 to April 2006.Results The infarct-related artery (IRA)was successfully recanalized by primary PCI for 12 AMI patients,without major complications occurred in these cases during hospitalization.Conclusion Primary PCI should be firstly chosen for treatment of AMI in the hospitals which could carry out PCI.

OBJECTIVETo study the expression level and significance of glucose transporter 1 (Glut-1) in normal breast tissue, adenosis, adenoma and breast carcinoma.

METHODSA total of 147 cases of female breast tissue samples, including 92 cases of invasive ductal carcinoma, 26 cases of breast fibroadenoma, 24 cases of breast adenosis and 5 cases of normal breast tissues, were collected for quantitative detection of the expression of Glut-1 protein by immunohistochemistry (EnVision method) and Western blot, and its mRNA by reverse transcriptase-polymerase chain reaction (RT-PCR).

RESULTSIn normal breast tissue and benign lesions of the breast, Glut-1 was undetectable or only weakly detectable in cytoplasm of ductal and acinar epithelia. In contrast, the intensity of Glut-1 staining was significantly higher in invasive ductal carcinomas (P = 0.0002) with protein expression predominantly in cellular membrane and lesser in cytoplasm. Western blot and RT-PCR analyses showed that the expression of Glut-1 protein and mRNA were significantly increased in invasive ductal carcinoma than fibroadenoma (P =0.001 for protein; P <0.05 for mRNA) and adenosis (P =0.001 for protein; P < 0.05 for mRNA). There was a significant difference among groups (P = 0.0002 for protein; P = 0.0001 for mRNA).

CONCLUSIONSGlucose transport activity, as indicated by Glut-1 protein and its mRNA expression, significantly increases in breast carcinoma than non-cancerous lesions. The over-expression of Glut-1 in breast carcinoma is tightly coupled with tumor cell proliferation, invasion and metastasis, implying that Glut-1 may serve as a new marker in the early diagnosis and prognostication of breast malignancy as well as a new therapeutic target.

Breast Neoplasms ; metabolism ; Carcinoma, Ductal, Breast ; metabolism ; Female ; Gene Expression Regulation, Neoplastic ; Glucose ; physiology ; Glucose Transport Proteins, Facilitative ; genetics ; metabolism ; Glucose Transporter Type 1 ; genetics ; metabolism ; Humans ; Prognosis

OBJECTIVESpinal muscular atrophy (SMA), characterized by degeneration of the anterior horn cells in the spinal cord and symmetric proximal muscle weakness, is the most common autosomal recessive neuromuscular disease in infants and children. In Caucasian population, about 95% of clinically typical patients lack both copies of the telomeric survival motor neuron gene (SMN 1). However, the detection rate of the homozygous absence in Chinese patients is still controversial, which may lead to reduced confidence in the SMA genetic testing in clinical practice. The purpose of the current study was to determine the frequency of homozygous deletions of SMN 1 in Chinese patients, to evaluate the significance of the SMN 1 homozygous deletion assay in clinical applications, and the impact of the clinical re-visit followed by the genetic testing.

METHODSTotally 85 patients initially suspected of SMA were referred for SMA genetic testing. A polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) assay was used to detect the homozygous absence of SMN 1. Clinical re-visit was performed by the pediatric neurology specialists according to the international SMA diagnostic criteria, and histological examinations were carried out when they were necessary.

RESULTSAbsence of both copies of SMN 1 exon 7 were found in 57 (67%) of the 85 patients, and 28 patients (33%) had at least one copy. For the 28 patients with negative results, 19 were followed up by the pediatric neurologists. The clinical diagnosis of SMA could be excluded in 15 patients, but retained in the other 4 patients after the clinical re-evaluation and histological examinations. Thus, approximately 95% of the patients with clinically typical SMA in our cohort lacked both copies of SMN 1. Homozygous deletions of SMN 1 were detected in 96% (22/23), 93% (28/30) and 100% (7/7) of the patients with SMA type I, type II and type III, respectively. There was no significant difference in the deletion frequency among the subtypes.

CONCLUSIONSThe frequency of homozygous deletions of SMN 1 in this series of Chinese SMA patients was about 95%, which is similar to that reported in Caucasian population. The genetic test of homozygous deletions of SMN 1 should be considered as the first line test for the Chinese patients suspected of SMA. The clinical re-visit and re-evaluation which is essential in clinical diagnosis, genetic counseling and medical management, should be routinely performed after the genetic testing.

Asian Continental Ancestry Group ; genetics ; Child ; Child, Preschool ; Exons ; Female ; Gene Deletion ; Genetic Testing ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Muscular Atrophy, Spinal ; diagnosis ; genetics ; Survival of Motor Neuron 1 Protein ; genetics

OBJECTIVETo study the mechanism of how iron-regulatory protein (hepcidin) affect iron overload in alcoholic liver disease (ALD).

METHODSThirty male wistar rats were randomly divided into 3 groups: Lieber-Decarli liquid without alcohol group (control group), Lieber-Decarli liquid with alcohol (alcohol group) and hepcidin intraperitoneally injected group (hepcidin group), each rat was fed for 6 weeks. The Serum concentration of Alanine Aminotransferase (ALT), Aspartate Amino Transferase (AST), Iron, Total Iron Binding capacity (TIBC), Ferritin, Malonyl Dialdehyde (MDA) and Hepcidin were determined. Hepatic tissue was examined by hematoxylin and eosin staining, prussian blue iron staining and immunohistochemistry staining.

RESULTS(1) Serum concentration of ALT in control group, alcohol group and hepcidin group were (25.2 ± 4.6) U/L, (37.9 ± 14.3) U/L and (40.9 ± 14.1) U/L (F = 4.907, P < 0.05), respectively. Serum AST among three groups were (32.3 ± 13.4) U/L, (55.0 ± 18.6) U/L and (48.3 ± 26.0) U/L (F = 3.742, P < 0.05), respectively. The secretions of ferritin were (224.72 ± 85.49) ng/ml, (345.59 ± 124.75) ng/ml and (339.47 ± 138.47) ng/ml (F = 3.539, P < 0.05). The serum concentrations of TIBC were (147.30 ± 31.98) μmol/L, (148.04 ± 58.74) μmol/L and (143.28 ± 37.38) μmol/L (F = 1.209, P > 0.05), respectively. The serum concentrations of iron were (55.64 ± 13.32) μmol/L, (60.37 ± 25.89) μmol/L and (49.77 ± 17.64) μmol/L (F = 0.651, P > 0.05), respectively. The serum concentration of MDA were (5.84 ± 2.17) nmol/ml, (6.51 ± 2.23) nmol/ml and (4.27 ± 2.68) nmol/ml (F = 2.782, P > 0.05), respectively. The serum concentration of Hepcidin were (155.96 ± 44.91)ng/ml, (124.11 ± 31.98) ng/ml and (114.96 ± 25.81) ng/ml (F = 3.839, P < 0.05), respectively. (2) Significant fat change observed in the liver of alcohol group. The positive granulations of iron staining were (0.8 ± 1.0), (1.2 ± 1.6) and (1.1 ± 1.1) (F = 0.254, P > 0.05), respectively. No differences found of liver iron express among the three groups. Intraperitoneal injection of hepcidin increased hepcidin expression in liver which was inhibited by alcohol (F = 4.139, P < 0.05).

CONCLUSIONSALD rats with lower hepcidin expression in liver can result in iron metabolism disorder. Ectogenic hepcidin can protect liver against alcohol damage by inhibiting lipid peroxidation.

Alanine Transaminase ; blood ; Animals ; Antimicrobial Cationic Peptides ; metabolism ; Hepcidins ; Iron-Regulatory Proteins ; metabolism ; Liver ; metabolism ; pathology ; Liver Diseases, Alcoholic ; metabolism ; pathology ; Male ; Rats ; Rats, Wistar

OBJECTIVETo investigate the mutational characteristics of PAX9 gene in Chinese patients with congenital oligodontia and thus to provide a molecular basis for studying the pathogenesis of oligodontia.

METHODSThirteen individuals with oligodontia and 9 healthy individuals, from 4 unrelated autosomal dominant families, and 16 sporadic patients with hypodontia in China, as well as 196 healthy control individuals (without oligodontia or hypodontia) were screened. Congenital absence of teeth was confirmed by panoramic X-ray analysis. Mutations of PAX9 gene were detected using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) analysis. After the finding of abnormal SSCP bands, analysis was carried out with DNA sequencing.

RESULTSPCR-SSCP detected SSCP bands alteration in exon2 of PAX9 gene in two unrelated families. Sequencing of PAX9 gene revealed a novel frameshift mutation (109InsG) and a novel missense mutation (C139T). All the affected members of each family were heterozygous for the mutations. In sporadic patients and the other two families, no similar sequence changes in PAX9 gene were found.

CONCLUSIONSThe results extend the spectrum of mutations in PAX9 gene associated with oligodontia. The novel mutations will play an important role in gene diagnosis of oligodontia.

Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Child ; Female ; Frameshift Mutation ; Humans ; Male ; Middle Aged ; Mutation, Missense ; PAX9 Transcription Factor ; genetics ; Pedigree ; Tooth Loss ; congenital ; genetics ; Young Adult

OBJECTIVETo explore the difference in tumor biological behaviors and prognosis between recurrent colon cancer and recurrent rectal cancer after radical operation.

METHODSComplete clinical and follow-up data of 132 patients with colorectal cancer developed recurrence,including 36 colon cancers and 96 rectal cancers, after curative resection were retrospectively analyzed and compared with respect of clinical pathological features and prognosis between colon and rectal cancer.

RESULTSSignificant differences were found in primary tumor gross type, histological type, tumor differentiation and lymph node metastasis between colon and rectal cancer(P<0.05). Colon cancer recurred earlier than rectal cancer after radical surgery with the median time to recurrence being 14.0 months and 21.5 months, respectively(P=0.028). The difference in multiple sites recurrence was also found between colon(n=16, 44.4%) and rectal cancer(n=65, 67.7%)(P=0.014). The 3-year survival rate of recurrent rectal cancer was better than that of colon cancer (24.8% vs 15.6%, P=0.026).

CONCLUSIONThere are some differences in tumor biological behaviors between colon and rectal cancer, and the prognosis of rectal cancer with recurrence is better than that of colon cancer.

Adult ; Colonic Neoplasms ; pathology ; surgery ; Female ; Humans ; Male ; Middle Aged ; Neoplasm Recurrence, Local ; pathology ; Neoplasm Staging ; Prognosis ; Rectal Neoplasms ; pathology ; surgery ; Retrospective Studies ; Survival Rate

Aged ; Female ; Heart Atria ; parasitology ; pathology ; Heart Neoplasms ; diagnosis ; pathology ; Humans ; Myxoma ; diagnosis ; pathology

BACKGROUNDIn the past several decades we have seen multiple advances in the reconstruction for girls born with vaginal agenesis. This study aimed to evaluate the technical feasibility, anatomical and functional outcomes of one-stage laparoscopic and gasless laparoscopic vaginoplasty with sigmoid colon for the patients of vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome).

METHODSWe did a retrospective review of a total of 150 women with Mayer-Rokitansky-Kuster-Hauser syndrome treated at Beijing Anzhen Hospital, Capital Medical University from March 2006 to August 2010. The patients were divided into the CO2 pneumoperitoneum laparoscopic group and the abdominal wall lift of gasless laparoscopic group. Sigmoid colon vaginoplasty approaches were performed in all of the patients. The surgical techniques, perioperative results, complications, anatomical and functional outcomes of vaginoplasty were recorded.

RESULTSAll procedures were performed successfully. Significant differences in the operative time and intraoperative blood loss existed in the laparoscopic vaginoplasty group compared with the gasless laparoscopic vaginoplasty group. The patients who underwent sigmoid colon vaginoplasty had good cosmetic results without the problem of excessive mucus production. The postoperative complications were minimal. During a mean follow-up of 15.6 months, no stenosis or shrinkage was encountered. The subjective sexual satisfaction rate with the surgical outcomes in all patients was 83.3%.

CONCLUSIONSLaparoscopic or gasless laparoscopic vaginoplasty with sigmoid colon are effective and feasible approaches for women with congenital vaginal agenesis. The procedures have satisfactory anatomical and functional results.

46, XX Disorders of Sex Development ; surgery ; Abnormalities, Multiple ; surgery ; Adult ; Colon, Sigmoid ; surgery ; Congenital Abnormalities ; Female ; Humans ; Kidney ; abnormalities ; Laparoscopy ; methods ; Mullerian Ducts ; abnormalities ; Pneumoperitoneum ; Postoperative Complications ; Retrospective Studies ; Somites ; abnormalities ; Spine ; abnormalities ; Uterus ; abnormalities ; surgery ; Vagina ; abnormalities ; surgery ; Vaginal Diseases ; surgery ; Young Adult