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Biomedical subjects

S Mathew

Publications and source records attributed to S Mathew.

At least 91 records · Page 5Linked to original sources

Pyloric obstruction due to gastric tuberculosis--an endoscopic diagnosis.

A 22 year old male presented with symptoms of gastric outlet obstruction. Endoscopy showed a hypertrophic nodular lesion around the pyloric opening with pyloric stenosis. The endoscopic biopsy and histopathological examination revealed tuberculosis involving the stomach, an extremely rare lesion.

Adult↗

Waldenstrom's macroglobulinaemia.

Waldenstrom's macroglobulinaemia is a rare form of monoclonal plasma cell dyscrasia in which there is excess production of immunoglobulin M. Clinically the patient has features of hyperviscosity syndrome and the effects of bone marrow replacement by lympho-plasmacytoid cells. We report here two such cases seen within a period of two months.

Female↗

Factors which affect growth of amniotic fluid cells.

In a study on various factors which are known to influence the growth of amniotic fluid cells for successful cytogenetic analysis in 89 samples, amniotic fluid volume greater than 10 ml enhanced the chance of success (P = 0.0003). The presence of red blood cells reduced the success rate although this was not statistically significant. Among the techniques which proved successful were the use of closed culture method (plastic flasks in which 5% CO2 is blown), and the addition of Ultroser G, which enhances the adhesion and growth of amniotic fluid cells.

Amniotic Fluid↗

Prenatal diagnosis of chromosomal disorders in Delhi.

Prenatal diagnosis of chromosomal disorders was carried out in 144 samples of amniotic fluid during 1986-1989. The commonest indication was pregnancy in women having a previous child with Down syndrome. Cultures were successful in 104 (72.2%) of 144 cases. Three (2.9%) abnormal karyotypes were detected. Of 53 women who had a previous child with Down syndrome, recurrence of trisomy 21 occur d in one (1.9%); while considering all abnormal karyotypes, there were three recurrences (2.9%).

Adult↗

Resolution of genetic and uterine environmental effects in a family study of new dermatoglyphic measure: sole pattern ridge counts.

The heritability of sole pattern ridge counts was examined in two family studies of endogamous castes from peninsular India. The phenotypes included ridge counts for each of the eight configurational areas separately, all areas combined, and only distal areas combined. Differences in heritability estimates were found between populations as well as among the individual configurational areas. Although some ridge counts do not show familial resemblance, others appear to be moderately heritable. Estimates of h2 range from 0.36 to 0.63 in one family series and from 0.22 to 0.51 in the other. In addition, significant uterine environmental effects were detected in one family series but not in the other.

Dermatoglyphics↗

A family study of dermatoglyphic traits in India: segregation analysis of accessory palmar triradii and the atd angle.

Accessory triradii and the atd angle were examined via complex segregation analysis in order to evaluate possible genetic effects on these dermatoglyphic traits, measured in an endogamous Brahmin caste of peninsular India. The phenotypes considered included: presence of accessory palmar triradii a' and d', associated with the interdigital areas II and IV, respectively; presence of an accessory axial triradius tt' associated with the proximal margin of the palm; and an arctanh-transformation of the atd angle measurement. For all accessory triradii considered in the present investigation familial resemblance was evident. The most parsimonious model which could account for the observed resemblance was a multifactorial model that includes polygenic effects as well as transmissible environmental effects that are inherited in the same pattern as polygenes. Evidence of familial resemblance was also found for the arctanh-transformed atd angle, which could be attributed, initially, to both a major effect and a multifactorial component. Tests of transmission of a putative major gene were performed which yielded results consistent with Mendelian transmission, although an alternative test of no transmission of the major effect also fit the data. In light of these contrasting results we are precluded from accepting with confidence the notion of a major gene influence on the atd angle. We have concluded that the accessory triradii a', d', and tt', and the atd angle are influenced by multifactorial effects, including additive polygenes and possible environmental factors, such as intrauterine effects.

Dermatoglyphics↗

Fetal liver infusion in aplastic anaemia.

Forty patients with severe aplastic anaemia received an intravenous infusion of 0.004 to 11.1 x 10(8) (median: 8 x 10(8) hematopoietic cells prepared from the fetal livers of 8-32 week old abortuses. Five patients, who died within 15 days of fetal liver infusion, are excluded from analysis. Twenty-two of the 35 evaluable patients (62%) responded favourably. Six of the 7 patients with good response were alive after 9 to 44 months (median: m = 20); one died 106 months after fetal liver infusion due to renal lithiasis. Four of the 7 with moderate response were alive after 9 to 31 months; 3 died within 16 months. Of 8 patients with minimal response, one was lost to follow-up and the others died in 3.4 to 10 months (m = 6). Median survival of responders was 15.7 months. Bone marrow cellularity became normal in 12 patients following fetal liver infusion. In seven patients, there was a relapse; 6 regained a normal bone marrow cellularity after a second or third fetal liver infusion. These data strongly suggest a role of fetal liver infusion in inducing bone marrow recovery. Of 13 non-responders, 4 were lost to follow-up and 9 died within 20 days-4.3 months (m = 1.6). Fetal liver infusion appears to be an effective therapy in patients with severe aplastic anaemia.

Anemia, Aplastic↗

Studies on engraftment following fetal liver infusion.

Studies to find engraftment following fetal liver infusion (FLI) in aplastic anaemia (AA) and acute myeloid leukaemia (AML) were carried out in 24 patients (17 AA and 7 AML patients) out of the 56 who received FLI. HLA studies done in 13 patients (3 AA and 5 AML), repeatedly after FLI, showed no significant change in HLA antigen pattern before and after FLI. Red cell antigen studies were done in five (1 AA and 4 AML) patients, 3 weeks to 7 months after FLI. One patient with AML who was Rh negative prior to reinduction chemotherapy became Rh positive two months after FLI; six months later he was Rh negative again. In the remaining patients there was no change in red cell antigen pattern after FLI. Radio-immuno-assay to detect alpha-fetoprotein levels, carried out in 10 (8 AA and 2 AML) patients repeatedly after FLI, demonstrated no increase. In 13 patients (8 AA and 5 AML) in whom there was a sex difference between donor and recipient, bone marrow cultures for sex chromosomes revealed mixture of XX and XY cells in 3 male patients with aplastic anaemia. One male patient with AML demonstrated complete engraftment after induction chemotherapy and FLI: all the mitoses studied were of XX pattern. Engraftment was however temporary as repeated studies revealed reversion to XY pattern. The present work suggests that infusion of fetal liver cells may sometimes induce temporary chimerism or engraftment in an adult host; in the majority of cases, however, engraftment could not be established.

Anemia, Aplastic↗

Effect of administration of carnitine on the severity of myocardial infarction induced by isoproterenol in rats.

The effect of administration of carnitine on the severity of myocardial infarction in rats induced by isoproterenol was studied by following histopathological and biochemical parameters. Carnitine afforded partial protection against myocardial infarction. Serum aspartate amino transferase (GOT) and creative phospho kinase (CPK) values, serum, heart and aortic lipids, serum protein-bound hexose and sialic acid and glycosaminoglycans in the heart were lower in the carnitine-treated rats. Histopathological examination showed very little necrosis in the carnitine-treated rats when compared to the extensive necrosis in the untreated controls.

Animals↗

A family study of dermatoglyphic traits in India: a search for major gene effects on palmar pattern ridge counts.

Palmar pattern ridge counts were subjected to segregation analysis in an attempt to identify possible major gene effects on these dermatoglyphic traits. The phenotypes considered were total palmar pattern ridge count, and ridge counts for the right interdigital III and IV and left interdigital IV individual palmar areas (sample sizes were too small for the other palmar areas). Evidence of familial resemblance was found for all of the phenotypes studied, and initial evidence for a major effect was found for all but the right palm interdigital III ridge count. However, this initial evidence could be attributed to nongenetic effects in each case, including skewness in the trait distribution. Tests for agreement with Mendelian transmission frequencies were found to be very useful in discriminating between a non-Mendelian major effect and a major gene. We concluded against a major gene effect for any of these traits, and multifactorial inheritance remains a plausible alternative explanation for the familial resemblance.

Dermatoglyphics↗

A family study of dermatoglyphic traits in India: resolution of genetic and uterine environmental effects for palmar pattern ridge counts.

The inheritance of palmar pattern ridge counts for individual palmar areas, combined distal areas, and all ten areas combined was investigated in families belonging to two strictly endogamous Brahmin castes of peninsular India. Ridge count phenotypes were obtained by the method proposed by Malhotra et al. (1981a), however, zero observations (indicating patterns not circumscribed by triradii) were excluded from analysis. Path analytic methods were applied in order to determine the relative influences of polygenes, intrauterine environment, and residual environment. The proportion of genetic variation was, in general, consistently greater in one population than the other, and significant intrauterine environmental effects were detected for the population with lower heritabilities. The results of this investigation suggest that a simple polygenic model may not be sufficient to explain the inheritance of ridge counts in the interdigital IV configurational area. Distal pattern ridge counts do not appear to be influenced by more or less uterine environmental effects than all areas considered together. The proportion of genetic variation for the total palmar pattern ridge count was 52% in both populations.

Consanguinity↗

Structured exploratory data analysis (SEDA) of finger ridge-count inheritance: I. Major gene index, midparental correlation, and offspring-between-parents function in 125 south Indian families.

Fourteen dermatoglyphic traits measured on 125 Velanadu Brahmin families were analyzed for mode of inheritance using three Structured Exploratory Data Analysis (SEDA) statistics: the major gene index, the offspring between parents function, and the traditional midparental correlation coefficient. Since the traits are integer valued with restricted ranges of variation, we simulated various transmission models with discrete expression to better understand the nature of the SEDA statistics for such variables. In addition, permutation procedures were employed to aid the interpretation of the SEDA results. These analyses suggest that corresponding homologous fingers on the left and right hands exhibit similar transmission characteristics. The relationship of the parent and child total ridge-counts of the two hands separately, as well as their combined total, virtually simulate complete Galtonian blending inheritance. Results for the individual digital ridge-counts as well as the pattern-intensity-index variable also suggest a multifactorial mode of transmission or possibly one involving several genes.

Dermatoglyphics↗

Structured exploratory data analysis (SEDA) of finger ridge-count inheritance: II. Association arrays in parent-offspring and sib-sib pairs.

Familial similarity of the dermatoglyphic trait values of finger ridge-count scores and pattern intensity index is examined for 125 nuclear families from the Velanadu Brahmin population of Southern India by the method of association arrays. This methodology assesses parent-offspring and sibship similarity through a collection of measures of dependence that is sensitive to a variety of nonlinear trends and stochastic relationships between trait values. The method is used in conjunction with various weights to determine the relationship between family size and the level and form of dependence. These analyses reveal that siblings are most strongly associated for ridge-counts of the middle digit and less associated for the thumb and fifth digit ridge-counts. Further, sibship similarity for ridge-counts increases with family size for the thumb and fifth digit but remains relatively constant over all family sizes for the middle finger. Family size effects are also observed for total ridge-counts of the left hand, right hand, and both hands combined, and for the pattern intensity index. These effects of family size may be due to the most pronounced changes occurring in the amniotic environment between the first and second pregnancy, which are most strongly manifested in the sibship associations of smaller families.

Dermatoglyphics↗

Genetics of plantar interdigital ridge counts.

The genetics of interdigital ridge counts of soles has been studied in a homogeneous Brahmin population of Andhra pradesh, India. The parameters considered are a-b, b-c and c-d ridge counts. A new measure - total plantar interdigital ridge counts (TPtIRC) - has been defined and an attempt has been made to evaluate the mode of inheritance of this trait. The results of the present study do not fully support the earlier conclusions regarding the genetics of a-b, b-c and c-d ridge counts.

Dermatoglyphics↗