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Biomedical subjects

B Kulkarni

Publications and source records attributed to B Kulkarni.

At least 19 recordsLinked to original sources

Development of inhibitors in patients with haemophilia from India.

Four hundred and seven patients (352 haemophilia A and 55 haemophilia B) were investigated for the presence of factor VIII and IX inhibitors. Twenty-four out of 292 severe and two out of 36 moderate haemophilia A patients showed the presence of inhibitors. The mean age at development of inhibitors was 17.7 years (range 6-52 years). In 12 patients the inhibitors were detected due to suboptimal response to factor replacement therapy (symptomatic) and in the remaining 14 patients the inhibitors were detected during the routine screening of the patients' samples for inhibitors. They had, however, responded well to the usual doses of factor concentrates and there was no suspicion in these patients that they had developed an inhibitor (asymptomatic). There were two families in which the inhibitors were detected in more than one family member. The level of inhibitors in symptomatic patients ranged from 2.2 Bethesda units (BU) mL(-1) to 460.6 BU mL(-1), and in asymptomatic patients it ranged from 0.8 BU mL(-1) to 3.2 BU mL(-1). The inhibitors persisted in all patients except one, who developed an inhibitor postoperatively for a brief period of 3 months. All these patients were followed up from first factor exposure and were tested for inhibitors at least twice a year. The mean number of exposure days before they developed inhibitors was 47.5 exposure days (range 17-98 exposure days). No inhibitors appeared after more than 100 exposure days in any of the patients. When 50 consecutive patients were investigated for intron 22 inversions of the factor VIII gene, 17 patients were found to be positive for inversions (10 proximal inversion; seven distal inversion) out of whom four patients developed inhibitors, three patients belonging to the same family. Out of 35 haemophilia B patients, only one patient developed an inhibitor. The overall prevalence of inhibitors was thus 8.2%, which is similar to the reports from western countries, prior to the introduction of highly purified factor concentrate therapy.

Adolescent↗

Color flow Doppler sonography: a reliable alternative to voiding cystourethrogram in the diagnosis of vesicoureteral reflux in children.

OBJECTIVES: In children with urinary tract infection, the incidence of vesicoureteral reflux (VUR) is nearly 30% to 40%. The standard for the diagnosis of VUR is voiding cystourethrography (VCUG). This study assessed the role of color flow Doppler sonography (CFDS) in the diagnosis of VUR and ureteral jets. METHODS: CFDS imaging was performed in 36 patients aged 6 months to 13 years during a 4-year period. All patients underwent CFDS and VCUG within 24 to 48 hours, but the findings of the VCUG were not reported to the sonologist. The ultrasound examinations were done using a color Doppler real-time machine. Representative images of the bladder events were recorded with a multiformat camera and on VHS videotape. RESULTS: The duration of the Doppler signal varied from 0.4 to 7.5 seconds. In 31 (86.1%) of 36 patients, the results of CFDS correlated well with VCUG findings. There were three false-negative and two false-positive results in the present study. Six patients underwent reimplantation during the course of their treatment. CFDS was used as a follow-up modality at the end of 6 months, and the results correlated well with standard VCUG in 4 of these patients. In the remaining 2 patients, only CFDS was performed and correlation with VCUG was not possible. VCUG was considered the reference standard in assessing the sensitivity of CFDS. CONCLUSIONS: CFDS of the bladder during the filling and micturating phases is a reliable and sensitive modality for identifying VUR and demonstrating ureteral jets. CFDS nullifies the danger of exposure to ionizing radiation and avoids the unpleasant catheterization many of these children fear.

Adolescent↗

Presacral teratoma presenting with congenital urinary ascites.

Congenital teratomas occur most frequently in the sacrococcygeal region. Most grown into a large perineo-sacral swelling that is conspicuous externally. Infrequently, the neoplasm is contained almost entirely within the pelvis in the presacral space. Congenital urinary ascites is observed in patients with obstructive uropathy; posterior urethral valves in a newborn is one of the most prominent causes of urinary ascites. We report a case of presacral teratoma leading to rupture of the urinary bladder due to outflow obstruction and causing urinary ascites. The ascites was drained, the bladder was repaired, and the teratoma was successfully excised. A review of the literature did not reveal any similar case.

Ascites↗

Papillomatosis of the gallbladder in metachromatic leukodystrophy.

A 2-year-old boy who presented with a cystic gallbladder mass was found histologically to have metachromatic leukodystrophy. Diffuse hyperplasia of the gallbladder mucosa, multiple tendrillar fronds extending into the lumen, extensive papillomatosis, and the presence of large numbers of macrophages bearing metachromatic material confirmed the diagnosis. The child developed progressive degeneration of the central nervous system, refractory bronchopneumonia, and generalized muscular atrophy. A computed tomographic scan of the brain demonstrated hypodense areas of white matter suggestive of demyelination. This report describes the rare association of gallbladder papillomatosis with a storage disorder and reviews the relevant literature.

Child, Preschool↗

13 pairs of ribs--a predictor of long gap atresia in tracheoesophageal fistula.

BACKGROUND/PURPOSE: Results of treatment of tracheoesophageal fistula (TEF) have improved over the years. However, long gap atresias continue to be a problem and require modification in the conventional operation. Preoperative diagnosis of a long gap atresia in a case of TEF is difficult, and often the defect is noted only at thoracotomy, thus necessitating multiple intraoperative changes in the position of the neonate. In the past 5 years the authors have treated 61 cases of TEF. Of these, 12 had a long gap atresia. Nine of these 12 patients had 13 pairs of ribs. None of the patients with a short gap atresia had 13 pairs of ribs. Hence, the presence of 13 pairs of ribs is a good indicator of long gap atresia. In a child who has TEF with 13 pairs of ribs, suitable modifications in operative procedure can be planned. The report also discusses the possible embryological basis of this association.

Esophageal Atresia↗

Multiple alignment of sequences on parallel computers.

A software package that allows one to carry out multiple alignment of protein and nucleic acid sequences of almost unlimited length and number of sequences is developed on C-DAC parallel computer--a transputer-based machine. The farming approach is used for data parallelization. The speed gains are almost linear when the number of transputers is increased from 4 to 64. The software is used to carry out multiple alignment of 100 sequences each of alpha-chain and beta-chain of hemoglobin and 83 cytochrome c sequences. The signature sequence of cytochrome c was found to be PGTKMXF. The single parameter, multiple alignment score, S, has been used to categorize proteins in different subfamilies and groups.

Algorithms↗

Estimation of N-hydroxy-o-toluidine, a urinary metabolite of o-toluidine and o-nitrosotoluene, by high performance liquid chromatography with electrochemical detection.

High-performance liquid chromatography with electrochemical detection, a highly sensitive and specific method, was used to determine N-hydroxy-o-toluidine and o-toluidine in the urines of male F344 rats after the administration of 0.82 mmol/kg of o-toluidine or o-nitrosotoluene. In a six hour period, 0.11% of the dose was excreted by o-toluidine-treated rats as N-hydroxy-o-toluidine and 3.61% as o-toluidine. In the same period, 0.48% of the dose was excreted by o-nitrosotoluene treated rats as N-hydroxy-o-toluidine and 0.38% as o-toluidine. The urinary excretion of the N-hydroxy-o-toluidine metabolite may play a role in the carcinogenicity of o-nitrosotoluene and o-toluidine toward the rat bladder.

Animals↗

In vivo metabolism of 3,2'-dimethyl-4-aminobiphenyl (DMAB) bearing on its organotropism in the Syrian golden hamster and the F344 rat.

The in vivo metabolism of tritiated DMAB was examined in male Syrian golden hamsters, which are susceptible to both urinary bladder and intestinal carcinogenesis by this agent and in male F344 rats in which intestinal tumors represent the main lesions. Evidence was obtained for the presence of the N-hydroxy-N-glucuronide of DMAB as a major metabolite in hamster urine and bile and in rat bile but not urine. The routes of excretion of this metabolite, which may represent a transport form of the ultimate carcinogen, correlate well with the main tumor sites in the two species. Other metabolites partially identified were the sulfates and glucuronides of C-hydroxylated DMAB and C-hydroxylated-N-acetyl DMAB.

Aminobiphenyl Compounds↗

Chenodeoxycholic acid synthesis in the hamster: a metabolic pathway via 3 beta, 7 alpha-dihydroxy-5-cholen-24-oic acid.

The quantitative significance of the metabolism of 3 beta, 7 alpha-dihydroxy-5-cholen-24-oic acid to chenodeoxycholic acid was evaluated in the hamster. A precursor-product relationship was established in this species by the finding that intravenous administration to an animal previously given cholesterol-4-14C caused a significant reduction in the specific activity of chenodeoxycholic acid. Administration of 12.9 mumole of the precursor was followed by a 10-fold increase in chenodeoxycholic acid excretion although the predominant excretory pathway was via biliary excretion as a monosulfate. The data indicate that synthesis of bile acid from cholesterol via the intermediate 3 beta, 7 alpha-dihydroxy-5-cholen-24-oic acid can be a quantitatively important pathway.

Animals↗

Rectal duplication.

Duplications of the alimentary tract are of a great rarity, particularly so in the rectum. Because of its rarity, the difficulty of making a correct diagnosis and of selection of proper approach for treatment, this entity bears a special significance. The present case report deals with a female newborn who presented with imperforate anus and a rectovestibular fistula and a mass prolapsing at the introitus. Complete excision of the mass was carried out through the perineal approach and the child then underwent, a PSARP for the correction of the rectal anomaly. Histology confirmed the mass to be a rectal duplication.

Abnormalities, Multiple↗