RESUMO
DMA analysis for the Genetic Mapping of Candidates of Deafness Genes in Pakistani Families. It was a cross sectional study. Department of Biochemistry/Molecular Biology, Quaid I Azam University, Islamabad Pakistan. The Clinical examination, biochemical tests, interpretation of results and preparation of results completed in approximately one year, 2006 2007. Study was conducted on two Pakistani families. Two Pakistani families labeled as family A and B were selected for the study. Family A comprises of three normal and three affected [Deaf] individuals. Family B comprises of two normal and four affected [Deaf] individuals. The blood samples were immediately dispatched to Molecular genetic laboratory, Quaid I Azam University, Islamabad for analysis 2006 2007. In family A, linkage was established to DFNB47 locus on the chromosome 2p25.1-p24.3. In family B, linkage to DFNB1 locus was excluded first by genotyping polymorphic microsatellite markers linked to the candidate region and then by sequencing GJB2 gene. The genetic mapping of candidates of deafness genes brings greater understanding of molecular basis of deafness and would modify the preventive and curative methods
RESUMO
This study was carried out to analyze the incidence of ovarian cancer and changing patterns of therapy during the last six years at INMOL. Main objective was to review the results of treatment given and find out the causes of failure. We reviewed the case files of all the patients diagnosed as ovarian cancer, who reported for treatment at INMOL during 1990-95. Age at presentation, parity, social class, family history, methods of surgery, stage of disease along with histologic type of the tumour was studied. Treatment and its outcome was also recorded to correlate the results with histological subtype and stage of disease. In our series 6.8% of all cancer in females were the ovarian Cancer. Peak age at presentation in our female patients is a decade earlier than the Western population. Seventy five percent of women were multiparous contrary to the text book teachings. Known family history of breast or ovarian cancer was available in 3.5% of cases. Forty two percent of patients presented in stage-III and 38% in stage-II. Standard debulking surgery was performed in only 18% of patients. Chemotherapy was the treatment of choice after initial debulking [92%]. Initial results of chemotherapy were good 46% of the patients achieving excellent clinical response. Epithelial ovarian cancer is not curable at advanced stages. Efforts should be made to find out some effective screening procedures for early detection. Multicentre collaborative studies are required to work out effective combination chemotherapeutic regimens