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Biomedical subjects

A Kriplani

Publications and source records attributed to A Kriplani.

81 records · Page 5Linked to original sources
PubMedDate not supplied

Detection of chromosomal abnormalities using fluorescence in situ hybridization (FISH).

BACKGROUND: A number of studies have demonstrated the use of molecular cytogenetic techniques for clinical diagnosis. We compared the results of FISH analysis and conventional cytogenetics on different tissue samples for detection of chromosomal aberrations and to assess the utility of FISH assay for clinical diagnosis. METHODS: Karyotypic analysis was carried out on 50 samples--20 peripheral blood samples, 20 bone marrow samples and 10 prenatal (chorionic villi/amniotic fluid) samples. The same chromosome preparations were further subjected to FISH analysis using probes specific for chromosome X, Y, 21 or bcr-abl gene. RESULTS: The results of FISH analysis were in conformity with the cytogenetic results in all the samples except one. FISH analysis could reveal hybridization signals even on poorly spread metaphase chromosomes and interphase nuclei. It was also possible to detect subtle chromosomal aberrations which were not detected using conventional chromosomal analysis. CONCLUSION: FISH is a powerful, sensitive molecular cytogenetic technique which can be used as an adjunct to conventional chromosomal analysis for prenatal diagnosis and the diagnosis and management of cancer patients. FISH analysis should be used as a supplement to conventional cytogenetics.

Amniocentesis↗
PubMedDate not supplied

Factors determining the occurrence of unwanted pregnancies.

BACKGROUND: We aimed to identify the factors involved in the occurrence of unwanted pregnancy in women seeking medical termination of pregnancy, and to describe their contraceptive practices. METHODS: A descriptive interview-based study of 402 women seeking abortion was done. Information was gathered regarding demographic variables, contraceptive practices and reasons for the unwanted pregnancy. RESULTS: All the women in our sample were married and multiparous. The husband's unwillingness for contraception and the improper use of condoms was responsible for one-third of all unwanted pregnancies. Lactation was believed to be a protection against pregnancy by 11.3% of women while 6.3% were unaware of any contraceptive method. CONCLUSION: We believe that focusing on these areas in public health programmes will help to decrease the number of unwanted pregnancies.

Abortion, Legal↗
PubMedDate not supplied

Prenatal diagnosis of Duchenne muscular dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders seen in children. Mutations in the DMD gene coding for the protein dystrophin causes the severe muscle-wasting disorder leading to death in the second decade of life. In the absence of a cure, prenatal diagnosis (PND) appears to be the best approach to reduce the burden of this disease on the individual family and ultimately on society. There are few published reports worldwide on PND and very few from the developing countries. We report our experience with PND for families with DMD using multiplex polymerase chain reaction (PCR) and microsatellite polymorphic marker analysis. METHODS: From August 1997 to October 1999, PND was offered on request to 23 families with one or two boys affected with DMD. A total of 26 foetuses were screened for DMD. Initially the deletions in the DMD gene in the affected child were identified by multiplex PCR screening for 23 exons in 6 sets. In patients where deletions were not identified, microsatellite repeat analysis was carried out to follow the inheritance of the mutant allele. DNA was extracted from chorionic villus samples obtained by chorionic villus biopsy performed at 10-15 weeks of gestation in 17 families, and at 16-20 weeks in 6 families. RESULTS: Deletions were identified in 20 affected boys. In 2 families, microsatellite repeat analysis was done to identify the mutant allele. Of the 26 foetuses, 5 were found to be affected with DMD and the parents opted for termination of pregnancies. CONCLUSIONS: Multiplex PCR technology and microsatellite repeat analysis can be used effectively for PND of DMD.

Female↗
PubMedDate not supplied

Angioembolisation in vaginal vascular malformation.

Vaginal arteriovenous malformations are rare entities and their most common presentation is vaginal haemorrhage. This case report describes a 22-year-old woman who presented at 20 weeks of gestation with slow growing soft and tender swelling at anterior vaginal wall. Diagnosis was confirmed as vaginal vascular malformation on contrast enhanced magnetic resonance imaging. The mass did not subside after delivery and patient developed dyspareunia. It was successfully treated by angioembolisation using polyvinyl alcohol particles. Angioembolisation being safe and effective should be the treatment of first choice for symptomatic vaginal vascular malformation.

Adult↗
PubMedDate not supplied

Prenatal diagnosis of haemoglobinopathies.

BACKGROUND: Haemoglobinopathies constitute a major health problem in the Indian subcontinent. In the absence of any method for achieving complete cure and treatment being expensive, prenatal diagnosis and selective termination of an affected foetus is a feasible option to decrease the disease load. We report our experience with prenatal diagnosis of haemoglobinopathies over a two-and-a-half year period in 257 pregnancies. METHODS: Amplification refractory mutation system (ARMS) was used to detect beta-thalassaemia, haemoglobin E and sickle cell mutations. RESULTS: Five mutations in the beta-globin gene which are common in the Indian population were detected in 92.3% of mutant chromosomes, whereas 3.1% of chromosomes carried rare mutations followed by 0.8% haemoglobin E and 0.4% sickle cell mutations. Mutations in 3.3% chromosomes were uncharacterized. The prenatal procedure, carried out early in pregnancy, was a chorionic villus sampling in most cases. A confirmed diagnosis based on ARMS-PCR was given in 241 (93.8%) cases. In 10 cases (3.9%) linkage analysis was required to confirm the foetal status, as mutations in both parents were not identified or the chorionic villus sample carried the single identified mutation. Four families with haemoglobin E-beta thalassaemia and one family with sickle cell disease were also included. Of the study population, 91.25% of the couples had a previous child with haemoglobinopathy, whereas 8.75% of the couples came before the birth of the first affected child. CONCLUSION: We conclude that ARMS-PCR is a highly sensitive technique for detecting mutations in the beta-globin gene and its efficacy in the prenatal diagnosis of haemoglobinopathies is proven.

Abortion, Induced↗
PubMedDate not supplied

Visual inspection for cervical cancer screening: evaluation by doctor versus paramedical worker.

BACKGROUND: In the absence of an effective cervical cancer screening programme, efforts are being made to explore the feasibility of using the existing infrastructure to develop effective low-cost screening methods. AIMS: To evaluate and compare test performance of visual inspection of the cervix by a doctor and a paramedical worker. SETTING AND DESIGN: Gynaecology outpatient department (OPD), All India Institute of Medical Sciences, New Delhi; cross-sectional study. MATERIAL AND METHODS: One hundred women with complaints of vaginal discharge, irregular bleeding, post coital bleeding or unhealthy cervix underwent visual inspection with acetic acid (VIA) and Lugol's iodine (VILI) by a doctor and nurse, followed by colposcopy and biopsy. STATISTICAL ANALYSIS USED: Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated for each test and compared. Concordance was determined by kappa statistics. RESULTS: VIA by nurse had a higher sensitivity (100% versus 87.5%), but lower specificity (53% versus 63%) when compared with the doctor, but it was not statistically significant. There was moderate agreement between their VIA findings (kappa=0.56). VILI findings were comparable to that of the VIA, both by the doctor and nurse. There was almost perfect agreement (kappa=0.89) between VILI by the doctor and nurse. CONCLUSION: Visual inspection can be performed reliably by trained paramedical workers and doctors and is an effective screening option in low resource settings.

Acetic Acid↗
PubMedDate not supplied

Correlation of computed tomography with second-look laparotomy in ovarian carcinoma.

BACKGROUND: Cancer of the ovary is the second commonest gynaecological malignancy after cancer of the cervix. Surgery followed by cisplatin-based chemotherapy is the standard treatment approach. In patients with persistent disease, second-look laparotomy offers an opportunity to debulk the tumour. This is usually followed by an alternative method of chemotherapy. We compared the findings at surgery (second-look laparotomy) with the preoperative computed axial tomography scan assessments. METHODS: Thirty-seven patients with epithelial ovarian carcinoma were assessed with computed axial tomography scans of the abdomen and pelvis prior to undergoing a second-look laparotomy. RESULTS: Tumour was correctly identified on computed axial tomography scan in 11 patients who had macroscopic evidence of cancer at laparotomy. In 6 patients, both computed axial tomography scan and surgery showed no disease recurrence. In the remaining 20 patients, there was a mismatch between the computed axial tomography scan and the surgical findings. In 16 of the 20 (80%) patients, computed axial tomography scans were negative but tumour was present. When the tumour was less than 1.5 cm in diameter it was missed in 8, and when equal to or greater than 1.5 cm, it was missed in 5 patients. These small tumour deposits were located in the retroperitoneal area, under the dome of the diaphragm, omentum or peritoneum, liver surface, and in the pouch of Douglas. In one case each, infiltration of the urinary bladder, sigmoid colon and rectum was also not detected. In 4 patients, computed axial tomography scans showed tumour when none was present. CONCLUSION: Computed axial tomography scan cannot detect small nodules often present in ovarian cancer, and thus even if a computed axial tomography scan is normal it should not exclude a second-look laparotomy.

Adolescent↗