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OBJECTIVE@#To assess the value of chromosomal microarray analysis (CMA) to verify a fetus with partial 18p deletion signaled by non-invasive prenatal testing.@*METHODS@#G-banding chromosomal karyotyping analysis was carried out on amniotic fluid sample of the fetus and peripheral blood samples from the parents. Amniotic DNA was also subjected to CMA analysis. The fetus was also subjected to systematic ultrasound scan.@*RESULTS@#The fetus was found to have a karyotype of 46,XX,18p+. CMA has revealed a 5 Mb deletion at 18p11.32-p11.31, a 2.9 Mb duplication at 18p11.31-p11.23, and a 2.5 Mb duplication at 18p11.23-p11.22. No chromosomal aberration or microdeletion/microduplication was detected in either parent.@*CONCLUSION@#Non-invasive prenatal testing and CMA are both sensitive for the detection of chromosomal microdeletions and microduplications. CMA can help with clarification of genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
Subject(s)
Female , Humans , Pregnancy , Chromosome Deletion , Chromosomes , Fetus , Karyotyping , Prenatal DiagnosisABSTRACT
OBJECTIVE@#To detect mutation of NDP gene in a pedigree affected with Norrie disease.@*METHODS@#Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected.@*RESULTS@#Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database.@*CONCLUSION@#The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
Subject(s)
Female , Humans , Pregnancy , Blindness , Eye Proteins , Genetic Diseases, X-Linked , Nerve Tissue Proteins , Nervous System Diseases , Pedigree , Prenatal Diagnosis , Retinal Degeneration , Spasms, InfantileABSTRACT
@#ObjectiveTo observe the speech outcome of globle aphasia after rehabilitation.Methods9 patients with globle aphasia from Dec. 2008 to June. 2010 in our hospital were assessed with the Standard Aphasia Examination of Chinese(CRRCAE) and trained using the Schuell aphasic stimulation approach, promoting aphasics communication effectiveness (PACE) and functional communication therapy (FCP).Results9 patients were disabled with their faces, 8 cases were disabled with speech. 9 cases improved in understanding, retelling, naming, and copying after speech training(P<0.05). Boston Diagnostic Aphasia Examination (BDAE) showed 2 cases had obvious improvement, and 2 patients had mild improvement.ConclusionThe speech rehabilitation on globle aphasia is very difficult, but speech function can recover to a certain extent and the type of aphasia can tranffer after speech training, and it can raise the ability of daily exchange by combining nonspeech means.
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Mutation, translocation and loss of some genes have been known to contribute to chemoresistance, epigenetic mechanisms may also play an important role. About 29 000 CpG islands are primarily distributed in the promoter and the first exon regions of protein coding genes in normal cells. However, cancer cells exhibit significant changes in terms of DNA methylation, which can be summarized as global hypomethylation of the genome accompanied by focal hypermethylation. The relationship between aberrant methylation of gene in the promoter and chemoresistance was discussed in the review. A brief summary was also introduced with regard to the advances how in reversing aberrant methylation and overcoming chemoresistance.
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Purpose:To investigate the prognostic factors for breast cancer patients with liver involvement.Methods:114 breast cancer patients with liver metastases,who were hospitalized in Fudan University Cancer Hospital between January,1996 and December,2003,were included in this study.Their survival data were analyzed.Results:The response rates with first-,second-,third-,fourth-line chemotherapy were 31.9%,27.8%,16.7% and 0%,respectively.Univariate analyses indicated that patients with impaired liver function and patients with a short interval between surgery and the first recurrence or metastasis had a poor prognosis.Multivariate analyses suggested that the presence of liver function impairment was an independent prognostic factor for overall survival.Conclusions:The response rates of chemotherapy drop with number of lines of chemotherapy.Breast cancer patients with liver involvement and impaired liver function have a poor prognosis.
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Recent researches indicated that cyclooxygena se -2 (COX-2) expression was related not only to development of breast cancer but also to clinicopathological parameters and prognosis of advanced breast cancer. The preclinical and clinical studies on the use of selective COX-2 inhibitors f or the prevention and treatment of breast cancer have become the focus of invest igation.