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Introduction: The prevalence of co-existing cataract and glaucoma is increasing in the adult population. Combined surgeries have become more popular. However, there is a conflict over which technique provides the best Intraocular Pressure (IOP) control with good postoperative outcomes. Aim: To compare the efficacy of single-site versus two-site phacotrabeculectomy with mitomycin-C in patients with Primary Open-angle Glaucoma (POAG) and cataract. Materials and Methods: A prospective cohort study was conducted in the Department of Ophthalmology, S.V. Medical College, Tirupati, Andhra Pradesh, India, over a period of one year from January 2019 to January 2020. A total of 50 cases of POAG coexisting with cataract were analysed in the present study. Twenty-five cases were included in each group (Group-1 and Group-2). Phacoemulsification and trabeculectomy were both performed through a superior scleral tunnel in the single-site approach. The two-site method combines a superior trabeculectomy with a temporal clear corneal phacoemulsification. A concentration of 0.2 mg/mL of MMC was applied in both groups for three minutes. Patients were followed-up for three months after surgery to evaluate Intraocular Pressure (IOP), the need for antiglaucoma medication, and postoperative best-corrected Visual Acuity (VA). Comparative analysis was done using the Student’s t-test, and a p-value <0.05 was considered statistically significant. Results: Throughout the three-month duration, the patients were monitored. In the single-site group, the average preoperative IOP was 21.880±8.4079 mmHg, which significantly decreased to 11.16±9.95 mmHg after three months (p<0.001). In the two-site group, the corresponding figures were 22.640±6.3040 and 10.8±1.19 mmHg, respectively (p<0.001), with no discernible statistical distinction between the two groups (p=0.486). At the final follow-up, the number of antiglaucoma medications was 0.24±0.5 in the single-site group compared to 0.16±0.24 in the two-site group. The mean postoperative Best Corrected Visual Acuity (BCVA) did not exhibit any significant variation between the two groups. Furthermore, there was no disparity in the occurrence rate of complications between the two groups. Conclusion: Both single and two-site phacotrabeculectomy led to a significant reduction in IOP and improvement in BCVA. The final IOP was similar in the two procedures, although the two-site group needed less glaucoma medication. As both surgical procedures are equally effective, the choice of procedure remains at the discretion of the surgeon. [ABSTRACT FROM AUTHOR]

Purpose: The aim of this study is to investigate the efficacy and safety of needling-revision augmented with a high dose of mitomycin C (MMC) in failing or failed blebs after trabeculectomy in Indian eyes.Methods: Prospective, noncomparative, interventional study. All patients (>18 years) who had raised intraocular pressure (IOP) following trabeculectomy (>6 weeks and <2 years), who had a flat bleb, bleb encapsulation, and/or required antiglaucoma medication (AGM) for IOP control were eligible for inclusion. MMC was injected subconjunctivally at least ½ hour before the needling procedure was carried out at the slit lamp in the outpatient's clinic.Results: Thirty-nine eyes of 38 patients were included. The median follow-up was 20 months and time interval between trabeculectomy and needle revision was 113 days. Initially, in all cases, aqueous flow was re-established with a raised bleb; 7 eyes required repeat needling. IOP decreased from median 24 mmHg (Q1 21, Q3 27, interquartile range [IQR] 6, range 18-35) preneedling to median 14 mmHg (Q1 10, Q3 16, IQR 6, range 6-18) postneedling at last follow-up (P < 0.0001, 95% confidence interval [CI]: 8.2-13.0). The use of AGM reduced from median 1 (Q1 0, Q3 3, IQR 3, range 0-4) preneedling to median 0 postneedling (P < 0.0001, 95% CI: 1-2). Complete success was seen in 28 eyes (71.8%, 95% CI: 71.1%-96.4%); another 5 eyes (12.8%) were controlled with AGM (qualified success) with overall success of 84.6%. Most complications were transient in nature with resolution within 1 week. One patient developed hypotony, and another developed a late bleb leak.Conclusion: Needling revision augmented with high-dose MMC, at the slit lamp, effectively rescues failing or failed filtration, and appears to be safe. [ABSTRACT FROM AUTHOR]

Introduction: The management of patients with aplastic anemia, to an extent, depends on the etiology i.e., inherited or acquired. The classical Chromosomal breakage study involves detection of chromosomal breakage or aberrations (breaks, gaps, rearrangements, radials, exchanges, endoreduplications) in peripheral blood cells after culture with a T-cell mitogen and a DNA clastogenic (cross-linking) agent, such as diepoxybutane (DEB) or mitomycin C (MMC). The testing needs to be performed in laboratory with appropriate expertise in Fanconi Anemia testing. The present study was undertaken to find out the frequency of inherited aplastic anemia in North India. Materials and Methods: This study was carried out at the Department of Molecular Biology and Transplant Immunology, Indraprastha Apollo hospital, New Delhi. The study includes retrospective analysis of 528 aplastic anemia patients whose samples were tested at our department for Chromosomal breakage study during the period 2007 to 2011. Respective age and sex matched healthy controls were also processed for chromosomal breakage study. Patient's habitat, clinical symptoms, differential blood count and history of drug exposure were documented for all patients referred to us, whereever available. Relative risk was estimated by odds ratio (OR) with 95% confidence interval (CI) in matched cases and controls. Conclusion: A significant increase in chromosomal breakages was seen in 13.1% patients. The survival data documented for 100 patients suggested 60% mortality. [ABSTRACT FROM AUTHOR]

Fanconi anemia (FA) is a genetic disorder characterized by progressive bone marrow failure and a predisposition to cancers. Mutations have been documented in 15 FA genes that participate in the FA-BRCA DNA repair pathway, a fundamental pathway in the development of the disease and the presentation of its characteristic symptoms. Certain symptoms such as oxygen sensitivity, hematological abnormalities and impaired immunity suggest that FA proteins could participate in or independently control other pathways as well. In this study, we identified 9 DNA repair genes that were down regulated in a genome wide analysis of 6 Indian Fanconi anemia patients. Functional clustering of a total of 233 dysregulated genes identified key biological processes that included regulation of transcription, DNA repair, cell cycle and chromosomal organization. Microarray data revealed the down regulation of ATXN3, ARID4A and ETS-1, which were validated by RTPCR in a subsequent sample set of 9 Indian FA patients. Here we report for the first time a gene expression profile of Fanconi anemia patients from the Indian population and a pool of genes that might aid in the acquisition and progression of the FA phenotype., (© 2013 Elsevier B.V. All rights reserved.)