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Biomedical subjects

Gautam Bhaduri

Publications and source records attributed to Gautam Bhaduri.

14 recordsLinked to original sources
PubMed2006

Primary role of CYP1B1 in Indian juvenile-onset POAG patients.

PURPOSE: CYP1B1, a member of the cytochrome P450 superfamily of enzymes, has been implicated in primary congenital glaucoma (PCG). Recent studies suggest a role of CYP1B1 in primary open-angle glaucoma (POAG) as a modifier locus. The purpose of the study was to further investigate the potential role of CYP1B1 in POAG patients. METHODS: Two hundred unrelated Indian POAG patients and 100 unrelated ethnically matched controls were enrolled in this study. The coding sequence of CYP1B1 was amplified by polymerase chain reaction (PCR) from genomic DNA, followed by direct DNA sequencing to identify the allelic variants. RESULTS: Six mutations were identified in nine patients and none of the controls examined. One novel mutation (R523T) was detected in the homozygous condition while three reported (W57C, E229K, and R368H) and two novel mutations (S515L and D530G) were found in the heterozygous state. The homozygous mutation of a conserved residue, detected in a familial juvenile onset POAG (JOAG) patient (lacking MYOC or OPTN mutations), cosegregated with the disease locus in an autosomal recessive mode of transmission. All the novel mutations (R523T, S515L and D530G) were detected in a region of CYP1B1 that did not harbor any of the 34 point mutations implicated in PCG. In addition, six previously reported (p.R48G, p.A119S, p.V432L, p.D449D, p.N453S, and 372-12C>T in intron 1) and four novel (p.V395V, p.P400P, p.V518A, and c.2016C>G in the 3'-UTR) single nucleotide polymorphism (SNPs) were also observed in POAG patients and controls. CONCLUSIONS: Our observation suggests that on rare occasions CYP1B1 may be primarily responsible for JOAG by possible monogenic association, and this observation emphasizes the importance of screening for mutation in this gene of JOAG patients that are determined not to harbor mutations in previously characterized candidate genes and loci for POAG.

Adolescent↗
PubMed2006

Persistent conjunctivitis associated with drinking arsenic-contaminated water.

PURPOSE: The aim of this study was to report on 2 cases of bilateral chronic conjunctivitis that were associated with the drinking of arsenic-contaminated underground water for a long time. DESIGN: Interventional case reports comprised the study. METHODS: This study was a review of clinical data and laboratory investigations. RESULTS: Papillary conjunctivitis developed in 2 members of a family who has been drinking underground water for 15 years. There were severe dermatological changes, including hyperkeratosis, on palms and soles, hypo- and hyperpigmented lesions (rain-drop) on the abdomen, chest, and back. Arsenic levels estimated in the nails and hair of both patients were very high. The arsenic level of the drinking water was above the permissible limit. Histopathological examination of conjunctival tissue confirmed the inflammatory response of a papillary type; however, an arsenic estimation in conjunctival tissue was not possible. There were no inclusions of bodies in conjunctival smears stained with hematoxylin and eosin (H&E) stain. There was no response to the usual treatment for papillary conjunctivitis, which only subsided, along with a regression of dermatological changes, when patients were treated with the chelating agent, dimercaprol, and multivitamin preparations, as well as no longer drinking the contaminated water. CONCLUSIONS: This is a rare association and, to the best of our knowledge, the first report of successful treatment with dimercarpol. The source of arsenic was contaminated underground drinking water (from a deep tube-well). The pathophysiology is thought to be the result of an inflammatory response caused by accumulated arsenic in local tissues. Papillary conjunctivitis and dermatological changes can be successfully managed with dimercaprol and multivitamins. Further studies are required to find out the possible link between the papillary response of conjunctiva and arsenic accumulation within the body.

Adolescent↗
PubMed2005

Atypical presentation of a unilateral septic thrombosis of the cavernous sinus.

A 7 year-old boy with unilateral septic cavernous sinus thrombosis following a pyoderma in the eyebrow is described. Problems in diagnosis and the role of magnetic resonance imaging (MRI) in the management are highlighted. Patient recovered with mild residual sequelae. The unique feature of this case was absence of chemosis and non-toxic presentation of the patient.

Cavernous Sinus Thrombosis↗
PubMed2005

Amniotic membrane transplantation in ocular surface disorders.

In this prospective study, 81 eyes of 70 patients diagnosed with various ocular surface disorders were enrolled to document the use of amniotic membrane transplantation in various ocular surface disorders. Detailed history and ocular examination was done. Ocular photographs and consent from all patients were taken. Fluorescein staining and impression cytology was done preoperatively and postoperatively in selected cases. Amniotic membrane was prepared from the placenta of a donor (consent taken and negative for infectious disorders), after separating amnion from chorion. It was washed with antibiotic solutions, transferred over nitrocellulose paper and stored in Dulbecco's modified Eagle's minimum essential medium at -80 degrees C. Recipient bed was prepared by removing the fibrovascular pannus and necrosed conjunctiva. Amniotic membrane was transplanted with the epithelial side up and sutured. Sixty-four eyes had good result by clinical evaluation or impression cytology findings, 5 eyes later required limbal stem cell culture and transplantation. All the 3 eyes had failure of the fornix reconstruction and 5 eyes had recurrence of the pterygium. Amniotic membrane provides lower recurrence rate in cases of recurrent pterygium. Alkali injuries are more dangerous but showed good response to amniotic membrane transplantation combined with limbal autografting or ex-vivo expansion and later transfer. Initial proper assessment of limbal involvement, conjunctival necrosis and corneal involvement is the key to the management of acute cases. Contracted sockets showed no improvement. Shield ulcers and persistent epithelial defect and ocular surface defects secondary to tumour excision showed excellent results.

Amnion↗
PubMed2005

Ocular involvement in diabetes mellitus.

Diabetes is a worldwide medical problem and is a significant cause of morbidity and mortality. It has considerable impact on both the patient and the society because it typically affects individuals in their most productive years. It is also one of the leading causes of blindness and visual impairment. A person with diabetes has 25 times the risk of blindness compared to a non-diabetic. This article reviews the variety of ways in which the eye and its adnexa can be involved in diabetes mellitus.

Diabetes Complications↗
PubMed2005

Hurler's disease.

Hurler's disease, also known as mucopolysaccharidoses 1H, an autosomal recessive disease due to enzyme alpha-iduronidase deficiency has generally a spectrum of findings involving the eye, skeletal abnormality, organomegaly, joint stiffness, hernia, mental retardation and cardiovascular abnormalities. The two cases presented here are related to each other as brother of 9 years age and sister of 7 years of age with their parents had consanguineous marriage. On ocular examination in both the cases there was dense bilateral corneal opacities. Glycosaminoglycan's level was found to be 4 mg/mmol cr in the first case and 5 mg/mmol cr in the second case. In the first case no ocular treatment was planned and in the second case penetrating keratoplasty was the choice of management.

Child↗
PubMed2005

Ophthalmomyiasis.

Ophthalmomyiasis is a rare condition. Here two such patients, one of 70-year-old male farmer with history of neglected trauma presented with painful swelling with sinus of right orbit and the second one of 65-year-old female destitute who presented with fungating mass near the medial canthus of left eye with pain and bleeding are reported. All the maggots were removed after applying ether.

Aged↗
PubMed2004

Genetics and bioinformatics of primary open angle glaucoma: an Indian perspective.

Glaucoma is the second largest blinding disorder, after cataract, affecting about 67 million people worldwide. In India about 1.5 million people are blind due to glaucoma. Primary open angle glaucoma is the major sub-type of glaucoma affecting all ages and is genetically complex. Myocilin and optineurin are two different genes that have been implicated for primary open angle glaucoma. This review is focused on the studies being conducted in India on primary open angle glaucoma to identify the molecular defects and new directions undertaken using bioinformatic approaches towards a better understanding of the disease.

Blindness↗
PubMed2004

Traumatic pseudophacocele.

A 70-year-old man presented with blunt trauma to his pseudophacic eye, resulting in subconjunctival dislocation of the posterior chamber intra-ocular lens. This rare incidence of traumatic pseudophacocele, occurring 5 years after cataract surgery and how its management salvaged useful vision is reported here.

Aged↗
PubMed2003

Vegetative intraocular foreign body of 25 years' duration.

Retained intraocular organic foreign bodies, particularly wooden bodies, are frequently encountered in ophthamlologic practice. We treated a patient with a retained intraocular foreign body--a single splinter from a broom--which had remained in the eye for 25 years.

Adult↗
PubMed2003

Epidermal naevus syndrome--a case report.

A case of epidermal naevus syndrome in a 25-year-old male presenting with maldevelopment of the lid margin in the left eye, pigmentation of the left half of the body and alopecia is presented here along with a brief discussion of literature.

Adult↗
PubMed2002

Gyrate atrophy of choroid and retina.

Gyrate atrophy of choroid and retina is a rare disorder of autosomal recessive nature. There occurs patchy and progressive atrophy of the choroid and retina at the equatorial region with central area being less affected. Here in this case report, one woman of about 47 years attended at the retina clinic, Tenennt Institute of Ophthalmology, Glasgow University with the history of gradual loss of vision. On fundus examination, sharply defined bizarre shaped atrophic areas of fundus was seen in both the eyes. Velvet like fine granular pigments were present in the macula, the zone of healthy retina and the periphery. The colourless, elongated, glittering crystals were scattered over the dark brown pigments visible through 90 dioptre lens. Bone corpuscles pigments were not found. Fluorescein angiography showed hyperfluorescence in the area of gyrate atrophy. Her plasma ornithine level and plasma tiramine level were 1 90 U mol/l and 357 U mol/l. respectively. A rigid schedule of low protein diet including near total elimination of arginine with supplementation of essential amino acids was advised since the diagnosis was established.

Choroid Diseases↗