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Biomedical subjects

K L Rao

Publications and source records attributed to K L Rao.

At least 19 recordsLinked to original sources

Mutational analysis of the betaglycan gene-coding region in susceptibility for ovarian failure.

BACKGROUND: Elevation of FSH is frequently a consequence of impaired ovarian follicle growth. Down-regulation of the FSH levels by inhibins is mediated through its receptor betaglycan in the gonadotrophs. Understanding of germline status of the betaglycan gene (TGFBR3) is essential for ovarian failure pathophysiology. METHODS: Sequence analysis was performed for the coding region of TGFBR3 gene in a cohort of 196 ovarian failure cases that include 133 premature ovarian failure (POF) cases, 63 primary amenorrhoea (PA) cases compared with 200 controls. RESULTS: Forty-six variants including six novel exonic variants and 16 novel intronic variants were revealed. Two variants were missense: (i) p.Iso184Val in a control and (ii) p.Pro775Ser in a POF case. Genotypic distribution of three variants (c.382-81C>T, c.382-77T>C and c.1200G>A) was significantly different in the patients as compared with the controls. Five variants c.382-81C>T, c.382-77T>C, c.566-216G>A, c.1200G>A and c.2022T>C were chosen for haplotyping. The CCAAT haplotype was significantly higher in the patient population as compared with the controls (P = 0.00007). CONCLUSION: This study establishes the first mutational report of the TGFBR3 gene in correlation with ovarian failure. Significant diversity of genotype distribution and haplotype analysis suggested susceptibility of the TGFBR3 gene for ovarian failure aetiology.

Adult↗

Ectopic scrotum and patent urachus.

Ectopic scrotum is a rare condition and has been reported in association with other urological abnormalities. We present a case with an associated patent urachus and a brief discussion on the possible mechanism to explain this deformation.

Choristoma↗

Management of accessory hepatic ducts in choledochal cysts.

This report describes the surgical management of 2 children with fusiform choledochal cysts who had accessory hepatic ducts (AHD) identified during excisional surgery for fusiform choledochal cysts (CC). Two children presenting with a triad of recurrent jaundice, fever, and abdominal pain were investigated and found to have type 1 choledochal cyst. Preoperative imaging and intraoperative cholangiography missed the AHD in both cases. In one of the patients, the main and the accessory ducts were separated by the right hepatic artery. In both the patients the accessory ducts were reconstructed successfully into a Roux loop along with the main common hepatic duct. Follow-up studies showed no evidence of biliary tract obstruction or atrophic changes in the liver. There was satisfactory uptake and drainage on hepatic scintigraphy. During excision of CC, AHD may be encountered. These may be missed on preoperative imaging. AHD may have a close relationship with neighboring vascular structures in the porta. Accessory hepatic ducts should be anticipated, identified, and reimplanted into the Roux loop during excisional surgery.

Child, Preschool↗

Outbreak of Pichia anomala infection in the pediatric service of a tertiary-care center in Northern India.

An outbreak of nosocomial fungemia due to the unusual yeast, Pichia anomala occurred in the pediatric wards of our hospital over a period of 23 months (April 1996 to February 1998). A total of 379 neonates and children (4.2% admissions) were infected. The probable index case was admitted to the pediatric emergency ward, with subsequent transmission to the premature nursery, pediatric intensive care units, and other children wards. Carriage on the hands of health care personnel was likely to be responsible for dissemination of the fungus. The outbreak could only be controlled after a health education campaign to improve hand-washing practices was instituted and after nystatin-fluconazole prophylaxis to all premature neonates and high-risk infants was introduced. In a case-control study, we identified a lower gestational age, a very low birth weight (<1,500 g), and a longer duration of hospital stay as significant risk factors associated with P. anomala fungemia in premature neonates. We conducted a culture prevalence survey of 50 consecutive premature neonates and found that 28% were colonized with P. anomala at a skin or mucosal site on the date of delivery and that 20% of these neonates subsequently developed P. anomala fungemia. We performed multilocus enzyme electrophoresis on 40 P. anomala outbreak isolates (including patient and health care workers' hand isolates), and the results suggested that these isolates were identical. Our study highlights the importance of P. anomala as an emerging nosocomial fungal pathogen.

Antifungal Agents↗

Blunt injury of the abdomen: a plea for CT.

A 3-year-old boy was brought to the emergency unit 1 h following a deceleration injury. On clinical examination there were no signs of injury and US showed only free intraperitoneal fluid. The following morning, contrast-enhanced CT showed the right kidney did not enhance and delayed scans showed contrast medium in the renal vein. This is an indirect sign of post-traumatic renal artery occlusion. Failure to recognise this sign may have disastrous consequences in a patient with solitary kidney or bilateral renal artery occlusion. Contrast-enhanced CT scan remains the most widely available investigation for accurate staging of blunt renal trauma.

Accidents, Traffic↗

Partial nephrectomy in cystic partially differentiated nephroblastoma.

Cystic partially differentiated nephroblastoma (CPDN) is an uncommon renal neoplasm in children. It is now recognized as a tumor with low but definite malignant potential. The authors report a patient that was treated with partial nephrectomy and chemotherapy with successful outcome. The literature on CPDN is briefly discussed.

Humans↗

Epispadias repair using the Mitchell technique.

PURPOSE: The results of epispadias repair using Mitchell's technique in nine patients is analyzed and the advantages of the procedure discussed. METHODS: Nine boys aged between 6 weeks and 6 years underwent epispadias repair between November 1996 and March 1998 (Penopubic epispadias, inferior vesical fissure, and midpenile epispadias, one patient each; exstrophy epispadias complex, six patients). Eight patients had first attempt at repair of epispadias. Two patients had closure of exstrophy and epispadias at one stage. RESULTS: At a mean follow-up of 10 months, all children had a conical glans, eight patients had ventral orthotopic meatus, and one had coronal hypospadiac meatus. Minor penopubic fistula developed in one patient. Six patients had downward angled penis, and three had horizontal penis in a flaccid state. All children were observed to have good erections during sleep. CONCLUSIONS: Mitchell's technique of epispadias repair allows an anatomic reconstruction of the penis with superior cosmetic and functional results. Long-term follow-up studies are necessary to evaluate the genital functions.

Child↗

Interaction between B.7 and CD28 costimulatory molecules is essential for the activation of effector function mediating spontaneous tumour regression.

The spontaneous regression of a rat histiocytoma, AK-5, is mediated by activated natural killer cells through antibody-dependent cellular cytotoxicity. In addition to the Fc-FcR interaction between the target and the effector cells demonstrated previously, we show the participation of costimulatory molecules B7 and CD28 in the efficient killing of the tumour cell. Blockade of the costimulatory interaction in vivo using anti-CD28 led to increased tumour growth and a suppressed cytokine response. Anti-CD28 antibody administration in vivo also diminished the cytotoxic potential of NK cells against AK-5 cells in vitro. Our studies also demonstrate the expression of B7.1 and B7.2 antigen on AK-5 tumour cells. The cytotoxic activity of natural killer cells was significantly inhibited when the effector/target cells were cultured in the presence of antibodies raised against B7.1, B7.2 and CD28. Administration of anti-CD28 in vivo also affected the efficiency of the formation of effector/target conjugates in vitro. Similarly, anti-CD28 injections affected expression of the adhesion molecules LFA 1 and ICAM 1 by splenocytes. Administration of anti-B7.1 and B7. 2 antibodies in AK-5 tumour-bearing animals showed a differential response. The cytotoxicity of natural killer cells was significantly inhibited after anti-B7.2 administration, suggesting the preferential participation of B7.2 molecules in vivo. These observations suggest an important role for B7-CD28 interaction in AK-5 tumour regression.

Animals↗

Juvenile polyposis in a tropical country.

The clinical profile, malignant potential, and management of 17 children with juvenile polyposis (more than five juvenile polyps) were evaluated clinically and endoscopically. Colonoscopy and polypectomy were done three weekly until colonic clearance was achieved, and thereafter two yearly. All polyps were subjected to histological examination. Mean age was 7.7 years, with a male preponderance (3:1). Presentation was with rectal bleeding (94%), pallor (65%), stunted growth (53%), and oedema (47%), and the mean (SD) duration of symptoms was 33 (27) months. None had a positive family history or any congenital anomaly. Two children had six polyps up to the transverse colon; the rest had numerous polyps all over the colon. All children had juvenile polyps on histology and 10 (59%) had adenomatous changes (dysplasia). Total colectomy was done in six for intractable symptoms. Colon clearance was achieved in eight after an average 3.4 polypectomy sessions, and three were still on the polypectomy programme. In conclusion, juvenile polyposis is commonly associated with low grade dysplasia. Serial colonoscopic polypectomy is effective but colectomy is required for intractable symptoms and when clearance of the colon is not possible.

Adenomatous Polyposis Coli↗