Objective To make sure the effects of using health education for patients with family liquid transfusion. Methods Investigated 200 patients with family liquid transfusion by questionnaire, and then analyzed the datum which had obtained. Results In the different age group, the master rates of health knowledge were 94.62%, 90.75% and 85.00% before the health education. While, after the health education, the corresponding rates were 98.21%, 96.50% and 96.11%, the differences were significant,P

Objective To establish a predictive model and to find the preoperative predictors for the nature of lesion in the setting of chronic pancreatitis. Methods The 121 patients from 7 tertiary medical centers in Shanghai from July 1998 to April 2007 with focal mass lesions in the setting of chronic pancreatitis were selected as the study population. The final diagnosis had to be confirmed histologically by surgical specimens (n =97) or by follow-up (n = 24). A case control study was conducted; the patients were divided into pancreatic cancer group and chronic pancreatitis group. The age, sex, past history, initial clinical presentations, lab results and imaging exams were collected by reviewing the medical records of these patients. χ~2 test and t test was used for univariate analysis, then the factors with P≤0. 25 were selected for further multivariate analysis, and multivariate logistic regression model was used to estimate odds ratio and 95% CI. Results Of 121 , 21 patients had a final diagnosis of pancreatic cancer and other 90 patients had a final diagnosis of chronic pancreatitis. Abdominal tenderness, direct bilirubin, CA19-9 and CEA were independent predictors of cancer in patients with focal mass lesions. Their odds ratios (95% CI) were 5. 691 (1.468, 22.070) , 1.011 (1.001 , 1.021) , 1.003 (1.001, 1.005) , 101.9 (0.988, 1.051) , respectively. Their P values were 0. 012, 0. 030, 0.003 and 0. 23 , respectively. Conclusions The logistic regression model may accurately predict the nature of lesion in the setting of chronic pancreatitis and may have certain clinical implication.

OBJECTIVETo analyze mutation of adenomatous polyposis coli (APC) gene in a family affected with familial adenomatous polyposis.

METHODSThe diagnosis was made based on clinical manifestations, family history, presence of numerous polyps in the colon as well as pathological examination. Peripheral blood samples were collected, and genomic DNA was extracted. Potential mutation of the APC gene was detected by polymerase chain reaction (PCR) and DNA sequencing. After finding the mutation in the proband, the same mutation was screened among other family members. The mutation was also confirmed with PCR-restriction fragment length polymorphism (RFLP), with which 100 unrelated healthy controls were examined.

RESULTSA novel heterozygous nonsense mutation c.2891T>G (L964X) of the APC gene was identified in this pedigree. The mutation has led to premature termination of translation. The same mutation was not detected among the 100 healthy controls.

CONCLUSIONThe c.2891T>G (L964X) of the APC gene probably underlies the familial adenomatous polyposis in this pedigree. The combined DNA sequencing and PCR-RFLP method is efficient and accurate for the diagnosis.

Adenomatous Polyposis Coli ; diagnosis ; genetics ; Adenomatous Polyposis Coli Protein ; genetics ; Adult ; Base Sequence ; Child, Preschool ; Colorectal Neoplasms ; diagnosis ; genetics ; Female ; Humans ; Male ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Point Mutation ; Young Adult

OBJECTIVETo analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype.

METHODSThe SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array).

RESULTSG-banding analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810.

CONCLUSIONThe duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup(15) case with a BP3:BP3 rearrangement.

Adult ; Chromosome Banding ; Chromosome Disorders ; genetics ; Chromosomes, Human, Pair 15 ; genetics ; Female ; Gene Rearrangement ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping