A 18-year-old female patient after cleft lip and palate surgery with an uncommon complication-precardium area pain were reported. The psychological treatment and nursing along with routine clinical treatment to the patient were applied. The patient had recovered from the precardium area pain after one week treatment.
Adolescent ; Cleft Lip ; Cleft Palate ; Female ; Humans ; Pain

OBJECTIVETo study the the relationship between lymphatic vessel density (LVD) and distal intramural spread (DIS), and evaluate the value of LVD in determining the length of distal resection in low rectal cancer.

METHODSNinety-two samples from patients undergone curative resection of low rectal cancer were studied. DIS was detected by HE stain. LVD was examined by immunohisto-chemical LYVE-1 (lymphatic vessel endothelial hyaluronan receptor). The association of LVD with DIS and other clinicopathological factors were examined.

RESULTSDIS (range 0.1-2.4 cm, mean 0.31 cm) was present in 44(47.8%) patients with low rectal cancer, including 23(52.3%) cases with cancer emboli in lymphatic vessels. LVD of peritumoral lesion was significantly higher than that of intratumoral lesion. LVD of DIS subgroup was significantly higher than that of non-DIS subgroup. Positive correlation was found by rank correlation test between the length of DIS and the LVD at peritumor tissue in DIS group (n=44, r=0.755, P<0.01). LVD was also positively correlated with the infiltration extent, lymphatic invasion and lymph node metastasis.

CONCLUSIONSLymphangiogenesis plays an important role in rectal cancer metastasis and cancer emboli in lymphatic vessels is the most common modality of DIS. The LVD is positively correlated with DIS, which may be helpful to determine the distal clearance length of rectal cancer.

Adult ; Aged ; Female ; Humans ; Lymphangiogenesis ; Lymphatic Metastasis ; Lymphatic Vessels ; pathology ; Male ; Middle Aged ; Neoplasm Invasiveness ; Rectal Neoplasms ; pathology ; surgery ; Young Adult

OBJECTIVETo characterize the clinical features of Chinese HNPCC families and to screen the mutations of a poly-(A)8 tract in M3 cholinergic receptor gene in these families.

METHODSThe clinical features of 15 Chinese HNPCC families were characterized. Genomic DNAs from 15 probands were prepared. PCR and direct DNA sequencing analysis were employed to examine the mutations of a poly-(A)8 tract in exon 8 of M3 cholinergic receptor gene.

RESULTSTotal 55 cancer patients were found in 15 families including 41 cases of colorectal carcinoma with an average of 2.73 colorectal carcinomas developed per family. Thirty out of forty-one (73%) patients were diagnosed before age of 50 years. Proximal colon was involved in 51% of patients, while anus and rectum were 40 %. Synchronous and metachronous multiple colorectal cancers developed in 5 patients (12%). Two thirds of families belonged to Lynch II syndrome, and total 18 extracolonic malignancies in 14 patients were identified. Gastric carcinoma was the most common extracolonic types. In 15 HNPCC probands, no mutation was detected in the poly-(A)8 tract of exon 8 of M3 cholinergic receptor gene.

CONCLUSIONM3 cholinergic receptor gene might have little relation with HNPCC in Chinese population. The criteria for Chinese HNPCC are useful and practical in clinical application.

Adult ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group ; genetics ; Colorectal Neoplasms, Hereditary Nonpolyposis ; genetics ; pathology ; Family Characteristics ; ethnology ; Family Health ; Female ; Gene Expression Regulation, Neoplastic ; genetics ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype ; Poly A ; Receptor, Muscarinic M3 ; genetics

OBJECTIVETo investigate the mutation of 5' non-coding region of bcl-6 gene in germinal center B-cell (GCB) subtype of diffuse large B-cell lymphoma (DLBCL).

METHODSt(14;18) detection and immunohistochemical staining (EnVision method) were performed in 60 cases of DLBCL, which were divided into GCB and non-GCB subtypes. Polymerase chain reaction (PCR), single-strand conformation polymorphism and direct DNA sequencing were used to identify mutations in the 5' non-coding region of the bcl-6 gene.

RESULTSSeven of 60 cases showed t(14;18) translocation in the major breakpoint region. Using minimally acceptable criteria, 18 of 60 cases were probably to be germinal centre derived. Bcl-6 mutations were detected in 12 of 60 cases (20.0%) of DLBCL, with a significantly higher frequency in the GCB subgroups (7/18) than in the non-GCB subgroups (11.9%, 5/42). Bcl-6 mutations occurred most frequently in +363 and +469 sites. An association of bcl-6 mutation and GCB subgroup was obtained.

CONCLUSIONSThe 5' regulatory region of the bcl-6 gene underwent less frequent somatic hypermutation during lymphomagenesis than the results of previous reports. Bcl-6 mutation occurred mostly in the GCB subtype and detection of t(14;18) seems helpful in the classification of DLBCL.

Adult ; Aged ; Aged, 80 and over ; B-Lymphocytes ; pathology ; Chromosomes, Human, Pair 14 ; Chromosomes, Human, Pair 18 ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; metabolism ; Female ; Germinal Center ; pathology ; Humans ; Lymphoma, Large B-Cell, Diffuse ; genetics ; pathology ; Male ; Middle Aged ; Point Mutation ; Proto-Oncogene Proteins c-bcl-6 ; Translocation, Genetic ; Young Adult

OBJECTIVETo develop attenuated Salmonella which harboring enterovirus 71 (EV71) VP1 gene.

METHODSThe plasmid which expressed VP1 protein of EV71 was constructed by gene recombination. Cellular expression was assessed by Western Blot analysis. The recombinant plasmid was then transformed into attenuated Salmonella SL7207.

RESULTSEV71 VP1 gene sequence was inserted into a eukaryotic expression plasmid VR1012. VP1 protein was detected by Western Blot analysis in the culture supernatant. And the attenuated Salmonella harbored the plasmid stable.

CONCLUSIONThe plasmid was constructed successfully and it can express effectively in vitro. The bacteria which harboring the plasmid were constructed successfully. This has provided a basis for further research of an oral EV71 vaccine.

Capsid Proteins ; genetics ; metabolism ; Enterovirus A, Human ; genetics ; Gene Expression ; Genetic Engineering ; Genetic Vectors ; genetics ; metabolism ; Salmonella ; genetics ; metabolism

To explore the hematopoietic reconstitution and transplantation-related complications of two units of unrelated umbilical cord blood combined transplantation for the treatment of adult hematologic malignancies, one adult patient with chronic myelogenous leukemia received two units of unrelated umbilical cord blood combined transplantation. The conditioning regimen was busulfan and cyclophosphamide (Bu-Cy). GVHD prophylaxis regimen consisted of mycophenolate mofetil (MMF), cyclosporine A (CsA) and methotrexate (MTX). The patient received total nucleated cells 4.63 x 10(7)/kg with CD34+ cells 8.34 x 10(5)/kg. Engraftment was documented by the analysis of short tandem repeat with polymerase chain reaction (STR-PCR). The results showed that the STR-PCR analysis for peripheral blood at day 31, 46 and 71 after transplantation suggested that one of two units of cord blood were completely engrafted. The ANC > 0.5 x 10(9)/L in the patient occurred at day 23, blood platelet counts > 20 x 10(9)/L at day 33 and > 50 x 10(9)/L at day 47. The Philadelphia chromosome and bcr/abl fusion gene of the patient also turned to negative after engraftment. Acute GVHD grade II occurred at day 13 and cured after treatment. It is concluded that umbilical cord blood can be used in adult hematopoietic stem cell transplantation. Two or more units umbilical cord blood combined transplantation might be the way to solve the problem of the low counts of nucleated cells when be used for adult.
Adult ; Cord Blood Stem Cell Transplantation ; adverse effects ; Female ; Graft vs Host Disease ; therapy ; Humans ; Leukemia, Myelogenous, Chronic, BCR-ABL Positive ; blood ; therapy ; Leukocyte Count

Objective To detect the mutation in DKC1 gene in a patient with dyskeratosis congeni- ta.Methods Fifteen exons of DKC1 gene were amplified by polymerase chain reaction (PCR),and the products were screened for mutations by denaturing high performance liquid chromatography (DHPLC) technology,then DNA sequencing was performed for abnormal exons as shown by DHPLC.The gene muta- tions were verified within 100 unrelated male individuals without dyskeratosis congenita.Results An ab- normal DHPLC elution peak was found in exon 12 of DKC1 gene of the patient,but not in other family members or normal individuals.DNA sequencing showed a 1236G→T transition in DKC1 gene in the pa- tient,which resulted in a 412W→C substitution in DKC1.No mutation was found in other family members and normal individuals.Conclusion The 1236G→T transition in the patient is a novel mutation in DKC1 gene,which could be a causative factor of dyskeratosis congenita.

OBJECTIVE: To localize the gene of autosomal dominant familial dilated cardiomyopathy with conduction defect. METHODS: A Chinese family which was diagnosed as dilated cardiomyopathy with conduction defect was studied. Venous blood (3 - 5 mL) from some family members was collected, and genomic DNA was extracted from the blood. Then whole genome wide scan was performed after excluding the known markers on the candidate loci (CMD1A, CMD1 E, CMD1F, and CMD1H) by two-point linkage analysis. RESULTS: No significant evidence for linkage was found in the two point linkage analyses to the known markers in the analyzed family. And the whole genome wide scan showed the maximum LOD score reached 2.68 at marker D3S1614 ( at recombination fraction theta = 0). CONCLUSION The related gene in this kindred is located on 3q26 other than on CMD1A, CMD1H, CMD1E, and CMD1F.
Adult ; Arrhythmias, Cardiac ; etiology ; genetics ; Cardiomyopathy, Dilated ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; Female ; Genetic Linkage ; Humans ; Male ; Microsatellite Repeats ; Middle Aged ; Pedigree

OBJECTIVETo compare the clinical outcomes between HLA allele matched (HLA-M) and 1 approximately 2 alleles disparity mismatched (HLA-mis) unrelated allogeneic bone marrow transplantation (URD-BMT).

METHODSThirty-nine patients received HLA-M and 21 received HLA-mis URD-BMT for the treatment of acute leukemia, chronic myeloid leukemia in chronic phase (CP) and myelodysplastic syndromes (MDS) in our hospital between November 1998 and December 2002. Conditioning regimen was Bu 16 mg/kg plus CTX 120 mg/kg, and mycophenolate mofetil (MMF), CsA and MTX were given to prevent aGVHD.

RESULTSThirty-eight of the HLA-M group and 18 of the HLA-mis group were engrafted successfully. The median follow-up duration was 11 (2.5 - 52.0) months for HLA-M group and 9 (2 - 46) months for HLA-mis group. The 3-year probabilities of disease-free survival (DFS) for HLA-M and HLA-mis group were (79.2 +/- 7.1)% and (45.8 +/- 15.5)%, respectively (P < 0.05). Grade II - IV aGVHD occurred in 10 (26.3%) patients in HLA-M group and 6 (33.3%) in HLA-mis group, respectively (P > 0.05).

CONCLUSIONURD-BMT is an effective modality for the treatment of leukemia and MDS. The outcome after URD-BMT can be optimized by matching the HLA-A, B and DR alleles between the donor and recipient.

Adolescent ; Adult ; Alleles ; Bone Marrow Transplantation ; Child ; Disease-Free Survival ; Female ; Histocompatibility Testing ; Humans ; Leukemia ; mortality ; therapy ; Male ; Middle Aged ; Myelodysplastic Syndromes ; mortality ; therapy ; Transplantation, Homologous