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V Datta

Publications and source records attributed to V Datta.

15 recordsLinked to original sources
PubMed2001

Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.

A female infant of nonconsanguineous Indian parents presented at 4 months with a hypoglycemic convulsion. Further episodes of hypoketotic hypoglycemia were associated with inappropriately elevated plasma insulin concentrations. However, unlike other children with hyperinsulinism, this patient had a persistently elevated blood spot hydroxybutyrylcarnitine concentration when fed, as well as when fasted. Measurement of the activity of L-3-hydroxyacyl-CoA dehydrogenase in cultured skin fibroblasts with acetoacetyl-CoA substrate showed reduced activity. In fibroblast mitochondria, the activity was less than 5% that of controls. Sequencing of the short-chain L-3-hydroxyacyl-CoA dehydrogenase (SCHAD) genomic DNA from the fibroblasts showed a homozygous mutation (C773T) changing proline to leucine at amino acid 258. Analysis of blood from the parents showed they were heterozygous for this mutation. Western blot studies showed undetectable levels of immunoreactive SCHAD protein in the child's fibroblasts. Expression studies showed that the P258L enzyme had no catalytic activity. We conclude that C773T is a disease-causing SCHAD mutation. This is the first defect in fatty acid beta-oxidation that has been associated with hyperinsulinism and raises interesting questions about the ways in which changes in fatty acid and ketone body metabolism modulate insulin secretion by the beta cell. The patient's hyperinsulinism was easily controlled with diazoxide and chlorothiazide.

3-Hydroxyacyl CoA Dehydrogenases↗
PubMed2000

Ellis-Van Creveld syndrome associated with nodular sclerosing Hodgkin's disease and nephrotic syndrome.

An 11-year-old male child presented with multiple congenital anomalies, gradually increasing swelling on the left side of neck for one month along with generalized swelling of body and passage of scanty urine for fifteen days. On examination, the child had multiple congenital anomalies and cervical lymphadenopathy. Cardiac examination revealed a pansystolic murmur grade III/VI in left lower parasternal area. Laboratory evaluation revealed significant hypoalbuminemia and hypercholesterolemia, 24 hours urinary protein was 116 mg/hour/m2. Histopathological examination of left cervical lymphnode revealed Hodgkin's disease (Nodular Sclerosing type), 2D echocardiography revealed presence of a single atrium. A diagnosis of Ellis-van Creveld syndrome with nodular sclerosing Hodgkin's disease and nephrotic syndrome was kept. This association, to the best of our knowledge has not been previously reported.

Child↗
PubMed2000

Genetic locus for streptolysin S production by group A streptococcus.

Group A streptococcus (GAS) is an important human pathogen that causes pharyngitis and invasive infections, including necrotizing fasciitis. Streptolysin S (SLS) is the cytolytic factor that creates the zone of beta-hemolysis surrounding GAS colonies grown on blood agar. We recently reported the discovery of a potential genetic determinant involved in SLS production, sagA, encoding a small peptide of 53 amino acids (S. D. Betschel, S. M. Borgia, N. L. Barg, D. E. Low, and J. C. De Azavedo, Infect. Immun. 66:1671-1679, 1998). Using transposon mutagenesis, chromosomal walking steps, and data from the GAS genome sequencing project (www.genome.ou.edu/strep. html), we have now identified a contiguous nine-gene locus (sagA to sagI) involved in SLS production. The sag locus is conserved among GAS strains regardless of M protein type. Targeted plasmid integrational mutagenesis of each gene in the sag operon resulted in an SLS-negative phenotype. Targeted integrations (i) upstream of the sagA promoter and (ii) downstream of a terminator sequence after sagI did not affect SLS production, establishing the functional boundaries of the operon. A rho-independent terminator sequence between sagA and sagB appears to regulate the amount of sagA transcript produced versus transcript for the entire operon. Reintroduction of the nine-gene sag locus on a plasmid vector restored SLS activity to the nonhemolytic sagA knockout mutant. Finally, heterologous expression of the intact sag operon conferred the SLS beta-hemolytic phenotype to the nonhemolytic Lactococcus lactis. We conclude that gene products of the GAS sag operon are both necessary and sufficient for SLS production. Sequence homologies of sag operon gene products suggest that SLS is related to the bacteriocin family of microbial toxins.

Amino Acid Sequence↗
PubMed2000

Osteopetrorickets.

Explore the source record for details and available documents.

Bone Marrow Transplantation↗
PubMed1997

Metabolic cataracts in newly diagnosed diabetes.

The morphologically distinct diabetic or 'metabolic' cataract is rare in newly diagnosed insulin dependent diabetes. The cases described are of five adolescents (three girls, two boys) with newly diagnosed insulin dependent diabetes who developed metabolic cataracts close to the time of diagnosis (0-16 months). They all had a prolonged duration of symptoms before diagnosis (4-24 months) and high glycated haemoglobin levels at diagnosis (15-21%). The pathogenesis of diabetic cataract is not well understood in humans. An attempt is made to link clinical observations with evidence from experimental animal models to understand the mechanism of cataract formation, with particular reference to the aldose reductase pathway. It is recommended that the lens and retina are examined at the onset of diabetes in all children, especially those who have a prolonged duration of symptoms before diagnosis and who report persistent blurred vision.

Adolescent↗
PubMed1995

Growth and sexual maturation of low birth weight children: a 14 year follow up.

OBJECTIVE: To evaluate the physical growth and sexual maturation of children born with low birth weight (< 2000 g). (LBW). DESIGN: Longitudinal follow up. SETTING: Hospital born urban cohort. METHODS: Weight, height, head circumference and pubertal changes were recorded till 14 years at specified intervals in 252 LBW and 176 control (term neonates with birth weights > or = 2500 g) children. Effect of prematurity and fetal growth retardation (SFD) was studied in 79 preterm appropriate for gestation and 45 term SFD children. RESULTS: LBW boys significantly lagged behind their controls for all physical growth parameters till 14 years, while the LBW girls had a physical growth comparable to controls after 11 years. Preterms had comparable weight, height and head circumference with their controls after 11 years. The SFDs, however, remained significantly handicapped in their overall physical growth even at 14 years. In comparison to controls, menarche occured 6 months earlier in preterms and 12 months earlier in SFD girls. However, there was no change in the sequence of pubertal changes in either preterms or SFDs. CONCLUSIONS: Fetal growth retardation has a lasting adverse effect on later physical growth, while most preterms catch up with their peers by adolescence.

Adolescent↗
PubMed1989

Giant cell tumour of ilium.

Most common tumours of ilium are chondrosarcoma and reticulum cell sarcoma. Giant cell tumour commonly presents at the ends of long bones. It is quite uncommon to find osteoclastoma in flat bones, especially ilium. This is the only case of osteoclastoma of ilium seen during the last 7 years in this institution and is reported for its rarity.

Bone Neoplasms↗
PubMedDate not supplied

Pneumatic retinopexy versus scleral buckling: a randomised controlled trial.

Pneumatic retinopexy (PR) is a technique for repairing certain retinal detachments which is easier to perform than conventional sceral buckling (SB) surgery but has comparable results. We performed a prospective, randomised, controlled trial to determine for ourselves whether PR is a safe and acceptable procedure. Twenty patients presenting consecutively with retinal detachments which fulfilled the selection criteria were randomised to have their detachments repaired by either PR or SB, ten patients in each group. The suitable patients had a single retinal break or small group of breaks of not greater than one clock hour in size, situated within the superior eight clock hours of retina. Patients with significant proliferative vitreoretinopathy or other fundus disorders were excluded. All patients in the PR group had local anaesthesia while all those in the SB group had general anaesthesia. Successful reattachment of the retina was achieved with one or more procedures in 90 percent of the PR group and in 100 percent of the SB group. We feel that narrowing the selection criteria for PR may further improve the success rate.

Cryosurgery↗