Zobrazeno 1 - 10
of 284
pro vyhledávání: '"Arundhati Sharma"'
Publikováno v:
Indian Journal of Ophthalmology, Vol 72, Iss 7, Pp 1012-1016 (2024)
Purpose: Retinoblastoma (RB) is the most common intraocular tumor in pediatric age group. The role of genetics has been explored in predicting survival prognosis, but its role in predicting globe salvage remains largely unexplored. We hereby aim to i
Externí odkaz:
https://doaj.org/article/468af3b481b344748b4f67b731c8dcfc
Autor:
Ananya Kaginalkar, Radhika Tandon, M Vanathi, Noopur Gupta, Viney Gupta, Seema Sen, Seema Kashyap, Arundhati Sharma
Publikováno v:
Taiwan Journal of Ophthalmology, Vol 13, Iss 4, Pp 505-519 (2023)
PURPOSE: To describe three anterior segment dysgenesis disorders with infantile corneal opacities, namely, congenital hereditary endothelial dystrophy (CHED), primary congenital glaucoma (PCG), and Peters anomaly (PA) in terms of clinical characteris
Externí odkaz:
https://doaj.org/article/8fb26189ceb44ee39c522232c9177662
Autor:
Viney Gupta, Bindu I Somarajan, Gagandeep Kaur, Shikha Gupta, Renu Singh, Dibyabhaba Pradhan, Harpreet Singh, Punit Kaur, Anshul Sharma, Bindia Chawla, Anisha Pahuja, Rajesh Ramachandran, Arundhati Sharma
Publikováno v:
Indian Journal of Ophthalmology, Vol 69, Iss 10, Pp 2710-2716 (2021)
Purpose: To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (PLOD2) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG). Me
Externí odkaz:
https://doaj.org/article/709fb2c621ee4dbeb42762f452f03bb0
Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
Autor:
Harathy Selvan, Anshul Sharma, Shweta Birla, Shikha Gupta, Bindu I Somarajan, Viney Gupta, Arundhati Sharma
Publikováno v:
Indian Journal of Ophthalmology, Vol 67, Iss 7, Pp 1226-1229 (2019)
A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had a mi
Externí odkaz:
https://doaj.org/article/a2c9a5f5c673404a9021b087a9ba9c2e
Autor:
Sushil K Sangwan, Neena Khanna, Namrata Sharma, Tushar Agarwal, Arundhati Sharma, Rasik B Vajpayee
Publikováno v:
Indian Journal of Dermatology, Vol 67, Iss 4, Pp 479-479 (2022)
Background: Epidermal necrolysis (SJS/TEN) is a rare but acute severe drug reaction associated with high morbidity and mortality rates. Aims: To describe the clinical, molecular, biochemical, and therapeutic profile of these patients. Methods: A tota
Externí odkaz:
https://doaj.org/article/97ade214bd324a95a4d9cee38d418fbc
Publikováno v:
Indian Journal of Ophthalmology, Vol 64, Iss 7, Pp 492-495 (2016)
Background: Congenital hereditary endothelial dystrophy (CHED) is an autosomal recessive disorder characterized by bilateral, symmetrical, noninflammatory corneal clouding (edema) present at birth or shortly thereafter. This study reports on an unusu
Externí odkaz:
https://doaj.org/article/2173a43a2a2e4d858a6657896a0e44bd
Autor:
Sarita Yadav, Shweta Birla, Eunice Marumudi, Arundhati Sharma, Rajesh Khadgawat, M L Khurana, A C Ammini
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 19, Iss 5, Pp 644-648 (2015)
Context: Congenital adrenal hyperplasia (CAH) is an autosomal recessive metabolic disorder caused by mutations in the CYP21A2 gene. Genetic diagnosis of 21-OH deficiency causing CAH is more complicated than any other monogenic disorder due to high va
Externí odkaz:
https://doaj.org/article/59462d85c1ea47beaa1a148f7fc65658
Publikováno v:
Case Reports in Rheumatology, Vol 2016 (2016)
Systemic sclerosis is a rare autoimmune disorder with a wide spectrum of clinical manifestations and a multitude of autoantibodies that are associated with it. In the past several years, advances in serologic testing have led to research indicating i
Externí odkaz:
https://doaj.org/article/b5382d38b6084d3aa960e82cfeefca70
Autor:
Eunice Marumudi, Arundhati Sharma, Bindu Kulshreshtha, Rajesh Khadgawat, Madan L Khurana, Ariachery C Ammini
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 16, Iss 3, Pp 384-388 (2012)
Context: Congenital adrenal hyperplasia (CAH) is one of the inborn errors of metabolic disorder inherited in an autosomal recessive manner caused by the defects in the steroid 21 hydroxylase CYP21A2 gene. We analyzed the genotype of 62 patients with
Externí odkaz:
https://doaj.org/article/f5c86b6405814da6be263103afa3988d
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 16, Iss 8, Pp 310-312 (2012)
Introduction: Growth hormone (GH) secretion and release is a complex and highly regulated process. Any alteration disturbing synthesis, secretion or biological action of GH, results into growth hormone deficiency (GHD). GHD is of two types-isolated g
Externí odkaz:
https://doaj.org/article/b431968d75364cfe96fa5d2bad8936de