Sickle cell disease (SCD) is prevalent in Central India and causes major morbidity and mortality. There is a lack of prenatal diagnostic facility near population affected with SCD. This is the pilot study in our region with the aim to establish prenatal diagnostic facility for the couples carrying sickle cell gene in Central India, in order to help them take an informed decision regarding fetus affected with SCD and also to calculate sensitivity of polymerase chain reaction (PCR) technique in our set up with follow up high performance liquid chromatography (HPLC) of baby's blood sample. Fetal sampling was done by chorionic villous biopsy. Extracted DNA was subjected to amplification refractory mutation system (ARMS-PCR) to detect sickle cell mutation (GAG ? GTG) in the sixth codon of b globin gene. Follow-up HPLC was done to detect baby's Hb pattern. Prenatal diagnosis of sickle cell anemia was offered in total 37 cases out of which one (2.7 %) fetal sample was inadequate. Total 26 (70.27 %) fetuses had AS Hb genotype, 3 (8.11 %) had AA Hb genotype and 3 (8.11 %) had SS Hb genotype while remaining 4 (10.81 %) were given AA/AS Hb genotype. All couples with SS fetuses opted for MTP. Follow up HPLC was performed in 24 cases, out of which 18 (75 %) were correlated and 6 (25 %) were mismatched. In present study sensitivity of ARMS-PCR was 75 %. ARMS-PCR is a simple technique to be established initially for providing rapid prenatal diagnosis to the couples with known sickle cell mutation. The sensitivity of ARMS-PCR can be increased by using suitable techniques to detect maternal cell DNA contamination.
Background: Symptomatic gallstone disease is most common indication for routine cholecystectomy. Gallstones cause various histological changes in gallbladder ranging from metaplasia to dysplasia and gallbladder carcinoma.Aims: Study was conducted to evaluate histopathological lesions in gallbladder diseases, correlate clinical and histopathological diagnoses in cholecystectomies and to know prevalence of incidental gallbladder carcinoma in our region.
Method:All cholecystectomy specimens received in histopathology laboratory during study period of one year were included. Detailed gross and microscopic examination was done in each case. Slides were stained by Hematoxylin and Eosin stain.Results: Total 290 cholecystectomy specimens were studied over a period of one year. Clinically suspicion of gallbladder carcinoma was raised in five cases due to preoperative and intraoperative findings of thickened gallbladder wall with adherence to surrounding structures and presence of gallstones. On microscopy, three cases of these were reported as xanthogranulomatous cholecystitis, one as nonspecific chronic cholecystitis and one was rare case of eumycetoma of gallbladder. On histopathological examination suspicion of gallbladder carcinoma was raised in three cases of dysplasia and final diagnosis was biliary intraepithelial neoplasia-3 in two cases and biliary intraepithelial neoplasia-1 in one case. Histopathologically two cases (0.69%) were reported as gallbladder carcinoma and clinically there was no suspicion of gallbladder carcinoma in both cases. However in one case suspicion of gallbladder carcinoma was raised intraoperatively while one case was of incidental gallbladder carcinoma (0.34%).
Conclusion:Gallstones disease can mimic gallbladder carcinoma clinically while incidental gallbladder carcinoma can occur in grossly normal looking gallbladder.
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