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Biomedical subjects

R Dalvi

Publications and source records attributed to R Dalvi.

11 recordsLinked to original sources
PubMed2001

Translocation (3;12) (p21-pter; q24.1-qter) and phenylketonuria.

Cytogenetic karyotyping in mental retardation associated with physical dysmorphism has been regarded as the primary key for the classification of syndromes and other genetic disorders for the predisposition of neoplasia and other fatal diseases. Giemsa-banding of metaphase chromosomes in lymphocytes is a traditional and routine process for the identification of the chromosomal counterpart which can provide a clue for molecular investigation in the subject. An 8-year-old girl showed a diploid karyotype 46, XX, t(3;12) (p21-pter, q24.1-qter) in peripheral blood lymphocyte culture. Biochemical examination of urine labelled her as a case of phenylketonuria. The maternal karyotyping was similar and confirmed the maternal transmission of the translocation.

Abnormalities, Multiple↗
PubMed2000

Pericentric inversion in human chromosome 8 and spherocytosis.

A cytogenetic study of a patient revealed a pericentric inversion in chromosome 8, and spherocytes in 10% of cells, in a routine blood smear. The critical portion which affected the expression of spherocytosis appeared to be localized at 8p22-8q21. The mother's karyotyping showed the transmission of the inversion to the child.

Chromosome Aberrations↗
PubMed1995

Treatment of aplastic anemia in children with high dose methyl prednisolone.

Severe aplastic anemia (SAA) in children has been previously treated with high dose methyl prednisolone (HDMP) with favorable results. We reviewed our experience with intravenous HDMP. Seven children with a diagnosis of SAA confirmed on bone marrow biopsy were treated with 300 mg/kg total dose of intravenous HDMP over a 4 week period. Patients were closely monitored for response and side effects. HDMP was well tolerated except for hyperglycemia in one case. Six of the seven patients showed no response to HDMP. This observation is in stark contrast with previous trials on use of HDMP in SAA. It is concluded that HDMP should be reserved only for patients with milder bone marrow hypoplasia.

Anemia, Aplastic↗
PubMed1993

Symptomatic atrial septal defect in infancy.

Isolated ostium secundum atrial septal defect (OS-ASD) may rarely lead to severe symptoms in infancy. Over a period of four years, 12 infants admitted to our hospital with severe congestive heart failure had an isolated OS-ASD. Their echocardiographic findings, clinical course, and outcome were outlined. All 12 infants had atypical findings including a holosystolic murmur parasternally and absence of wide fixed splitting of the second heart sound, and none were clinically suspected to have an ASD. M-mode echocardiography in all infants showed a greater than normal diastolic right ventricular internal diameter in the absence of pulmonary hypertension, indicating an increased right ventricular distensibility. Ten out of 12 infants responded well to medical decongestive treatment, and none developed pulmonary hypertension. Two infants who failed to improve with drugs, successfully underwent surgical closure, while two other infants revealed clinical and echocardiographic evidence of spontaneous closure.

Echocardiography↗
PubMed1991

Exchange transfusions in neonatal sepsis.

Between October, 1987 and October, 1988, 53 neonates with severe or unresponsive sepsis were subjected to therapeutic exchange transfusions (ET) using 170 ml/kg of citrated blood less than 24 hours old. The procedure was repeated up to a maximum of 4 times. The success of therapy was adjudged by resolution of sclerema and/or improvement in clinical features. There were 32 low birth-weight (LBW) and 21 non-LBW infants and 51/53 subjects had sclerema. The mean time for recovery following ET was 19.6 +/- 12.4 h (range: 1-48 h). The overall survival was 77.4% and the survival rates for LBW and non-LBW infants were 73.6 and 68.2%, respectively, however, the difference was not statistically significant. No significant or fatal complications occurred during ET. The effects of other associated problems on outcome studied by multiple regression analysis showed that neurologic problems were associated with a poor chance for survival despite ET. Exchange transfusion may thus be an effective and safe therapeutic modality for severe neonatal sepsis.

Birth Weight↗
PubMed1990

Mortality determinants and prediction of outcome in high risk newborns.

The aim of this study was to determine independent patient-related predictors of mortality in high risk newborns admitted at our centre. The study population comprised 100 consecutive newborns each, from the premature unit (PU) and sick baby care unit (SBCU), respectively. Thirteen high risk factors (variables) for each of the two units, were entered into a multivariate regression analysis. Variables with independent predictive value for poor outcome (i.e., death) in PU were, weight less than 1 kg, hyaline membrane disease, neurologic problems, and intravenous therapy. High risk factors in SBCU included, blood gas abnormality, bleeding phenomena, recurrent convulsions, apnea, and congenital anomalies. Identification of these factors guided us in defining priority areas for improvement in our system of neonatal care. Also, based on these variables a simple predictive score for outcome was constructed. The prediction equation and the score were cross-validated by applying them to a 'test-set' of 100 newborns each for PU and SBCU. Results showed a comparable sensitivity, specificity and error rate.

Forecasting↗