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Biomedical subjects

K Kucheria

Publications and source records attributed to K Kucheria.

52 records · Page 3Linked to original sources
PubMed1979

Fetal liver transplantation in aplastic anemia.

Fetal liver transplantation was attempted in 7 patients with aplastic anemia. 4 of these patients showed a partial response as evidenced by decrease in blood transfusion requirements and increase in the peripheral blood counts and hematopoietic cells in the bone marrow. Bone marrow culture studies revealed evidence of a temporary mixed lymphoid chimerism (cases 1 and 3). While case 1 lived for 16 months, case 3 is surviving at 17 months. None of the patients showed apparent graft-versus-host disease. Increased incidence of infections was noticed. Possible causes for the same are discussed. 3 patients failed to respond. Fetal liver transplant may be of therapeutic value in management of aplastic anemia.

Adolescent↗
PubMed1976

A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies--a new syndrome.

This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangioma of the forehead, hypoplastic cartilages of ears and nose, micrognathia, intrauterine growth retardation, and possibly mental retardation. Chromosomes of both parents and propositi are normal. Genetic data suggest autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1970

Autoradiographic analysis of the cell cycle of five solid human tumours in vitro.

Reports are available on the studies of the cell cycle of several normal cell populations and of neoplastic effusions in man and experimental animals in vitro and in vivo at various stages of the growth. In the present work the cell cycle of 5 solid human tumours in vitro and the duration of their various intermitotic phases were studied using H(3) thymidine and autoradiography. All the cell lines studied showed a longer G(2)-period than other normal mammalian cells. No relationship between the duration of the cell cycle and the modal chromosome number or malignancy of the tumours was observed.

Astrocytoma↗
PubMed1970

Chromosomal DNA replication pattern in human tumour cells in vitro.

The present paper deals with the chromosomal DNA replication pattern in human solid tumour cells in vitro. This was studied at the terminal stages of the S-period. All the cell lines of female origin showed a late replicating chromosome in group XX6-12. In cell lines of male origin one of the chromosomes of group 21-22Y was later replicating than the rest of the members of the group. The DNA replication pattern of the autosomes and the sex chromosomes was similar to that of the cultured human leucocytes. The results of the present study show that the DNA replication pattern of the chromosome in neoplastic cells is basically unchanged despite the changes in the chromosome number and morphology. Therefore the abnormal behaviour of the neoplastic cells cannot be related to the changes in the pattern of the chromosomal DNA replication.

Astrocytoma↗
PubMedDate not supplied

A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY.

A total of 30 cases of 46,XX true hermaphroditism was analysed for Y-DNA sequences including the recently cloned gene for male testis-determination SRY. In 3 cases, a portion of the Y chromosome including SRY was present and, in 2 cases, was localised, to Xp22 by in situ hybridisation. Since previous studies have shown that the majority of XX males are generated by an X-Y chromosomal interchange, the Xp22 position of the Yp material suggests that certain cases of hermaphroditism can arise by the same meiotic event. The phenotype in the 3 SRY-positive cases may be caused by X-inactivation resulting in somatic mosaicism of testis-determining factor expression giving rise to both testicular and ovarian tissues. Autosomal or X-linked mutation(s) elsewhere in the sex-determining pathway may explain the phenotype observed in the remaining 27 SRY-negative cases.

Adolescent↗
PubMedDate not supplied

Familial male pseudohermaphroditism.

Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.

Adolescent↗
PubMedDate not supplied

Semen analysis in alcohol dependence syndrome.

Analysis of seminal fluid samples from 20 ADS cases is reported for the first time. A significant decrease in the total volume of complete semen sample and sperm concentration was observed. Percentage of morphologically abnormal sperms was higher in samples from ADS cases than controls, though no linear correlation was observed with amount and duration of alcohol consumption. Analysis of blood samples from five ADS cases, using radio immunoassay techniques showed low testosterone values. LH, FSH and Prolactin values were within normal range. The study shows that alcohol consumption fo a considerable period, affects spermatogenesis, spermiogenesis and causes oligozoospermia. The effect probably are reversible.

Adult↗
PubMedDate not supplied

Effect of phenytoin on semen.

Male patients receiving antiepileptic drugs (AEDs) have often complained of hyposexuality. Few studies have been done on semen analysis, which is relevant for assessment of potential and possible reproductive outcome in such cases. We evaluated the effect of epilepsy itself and/or phenytoin (PHT) on the male reproductive system. Fifty-five patients with epilepsy (42 with PHT and 13 untreated) and 28 healthy normal controls were studied by semen analysis. Serum samples from 21 of the 55 patients were also analyzed for testosterone, luteinizing hormone (LH), and follicle-stimulating hormone. Results showed lower volume of seminal fluid, spermatozoa concentration, and total sperm count in untreated and PHT-treated patients as compared with controls, although no difference was evident between the patient groups. Morphologically abnormal sperm were more increased in untreated patients than in PHT treated and control subjects. Hormonal analysis showed lower levels of testosterone in 9 patients. LH levels were increased in one third of the patients. Our results suggests an effect of seizures on the male reproductive system, and PHT may have a slight additive (if any) influence.

Adult↗
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↗