Bronchoalveolar lavage cellular analyses in conjunction with high-resolution computed tomography imaging as a diagnostic intervention for patients with suspected interstitial lung disease

Background: Bronchoalveolar lavage (BAL) has gained acceptance for diagnosis of Interstitial lung disease (ILD). The advent of high-resolution computed tomography (HRCT) has reduced the clinical utility of BAL. This work has utilized the recommendations of the American Thoracic Society (ATS) to optimize BAL and the findings have been associated with clinical examination and HRCT to precisely narrow down the cause of ILD. Materials and Methods: BAL was performed on ILD suspects at the target site chosen based on HRCT. The procedure, transport, processing, and analysis of BAL fluid were performed as per the ATS guidelines. The clinical data, HRCT findings and BAL report were used to narrow down the diagnosis of ILD. The statistical analysis was performed to assess the significance. Results: The BAL procedure was optimized as per the recommendations of the ATS. In a cohort of 50 patients, Idiopathic pulmonary fibrosis, (8) hypersensitivity pneumonitis, (17) connective tissue disorder, (9) sarcoidosis, (3) pneumoconiosis, (5) acute respiratory distress syndrome, (2) eosinophilic lung disease (2) and lymphangitic carcinomatosa, (2) aspiration bronchiolitis (1) and pulmonary histiocytosis (1) were diagnosed. Statistically significant variation in differential counts was found in different ILDs. The different ILDs were classified based on the criteria described by the ATS. Clinical Significance: BAL along with clinical and HRCT findings improved the diagnostic accuracy by incorporating, the acute or chronic nature of the disease and the cause for acute exacerbation, which helped in the better management of ILDs

Genetic perspective of retinoblastoma: From present to future

Retinoblastoma (RB) is the most common malignant intraocular tumor in children. In the last decade, basic research has led to a better understanding of events after two hits in RB susceptibility gene (RB1), molecular mechanism of tumor growth, the cell of origin of RB, etc. This would pave way to identify biomarkers and molecular targeted therapy for better treatment option in the future. Furthermore, improvement in molecular techniques has led to enhanced diagnostic methods for early diagnosis, genetic counseling, and prevention of the disease. This review will help to understand the essence of basic research work conducted in recent times and its implication in the management of RB in the future

Ranibizumab for choroidal neovascular membrane in a rare case of Bietti's crystalline dystrophy: A case report

We report a rare case of Bietti's crystalline dystrophy presenting with choroidal neovascular membrane (CNVM) which was treated with three injections of intravitreal ranibizumab. The CNVM underwent scarring after the injections with stabilization of visual acuity at a follow-up period of 12 months suggesting that intravitreal ranibizumab may have a role in the management of CNVM in these rare cases

Structure and Reactivity of Pd Complexes in Various Oxidation States in Identical Ligand Environments with Reference to C–C and C–Cl Coupling Reactions: Insights from Density Functional Theory

Bonding and reactivity of [(^RN4)­Pd^<i>n</i>CH₃X]^{(<i>n</i>−2)+} complexes have been investigated at the M06/BS2//B3LYP/BS1 level. Feasible mechanisms for the unselective formation of ethane and methyl chloride from mono-methyl Pd^III complexes and selective formation of ethane or methyl chloride from Pd^IV complexes are reported here. Density functional theory (DFT) results indicate that Pd^IV is more reactive than Pd^III and Pd in different oxidation states that follow different mechanisms. Pd^III complexes react in three steps: (i) conformational change, (ii) transmetalation, and (iii) reductive elimination. In the first step a five-coordinate Pd^III intermediate is formed by the cleavage of one Pd–N_ax bond, and in the second step one methyl group is transferred from the Pd^III complex to the above intermediate via transmetalation, and subsequently a six-coordinate Pd^IV intermediate is formed by disproportion. In this step, transmetalation can occur on both singlet and triplet surfaces, and the singlet surface is lying lower. Transmetalation can also occur between the above intermediate and [(^RN4)­Pd^II(CH₃)­(CH₃CN) ]⁺, but this not a feasible path. In the third step this Pd^IV intermediate undergoes reductive elimination of ethane and methyl chloride unselectively, and there are three possible routes for this step. Here axial–equatorial elimination is more facile than equatorial–equatorial elimination. Pd^IV complexes react in two steps, a conformational change followed by reductive elimination, selectively forming ethane or methyl chloride. Thus, Pd^III complex reacts through a six-coordinate Pd^IV intermediate that has competing C–C and C–Cl bond formation, and Pd^IV complex reacts through a five-coordinate Pd^IV intermediate that has selective C–C and C–Cl bond formation. Free energy barriers indicate that iPr, in comparison to the methyl substituent in the ^RN4 ligand, activates the cleaving of the Pd–N_ax bond through electronic and steric interactions. Overall, reductive elimination leading to C–C bond formation is easier than the formation of a C–Cl bond

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family

Purpose: This study aimed to characterize an Asian Indian aniridia family for both the phenotype and genotype of the disease for a better clinical management. Methods: The phenotype and genotype of the affected and unaffected individuals in the aniridia family were evaluated. The subjects underwent a standard ophthalmic evaluation followed by molecular screening of PAX6 gene in the peripheral blood for mutation detection. Results: The three affected individuals had aniridia with several common features and an uncommon presentation of bilateral congenital ptosis. Two affected siblings, a brother and a sister, had aniridia, nystagmus, ptosis, increase in central corneal thickness, cataract, and foveal hypoplasia. The sister had features of glaucoma. The offspring of the sister had all the features except cataract and rise in intraocular pressure. Mutation screening of PAX6 gene helped in identifying a novel heterozygous pathogenic variation g. 31801757dupG (c. 216-19dupG) that resulted in a frameshift mutation that extended into exon 7. Based on the evaluation and diagnostic testing, the family was clinically managed along with genetic counselling. Conclusion: Molecular diagnostic testing helps in genetic counseling of the family with aniridia to understand the nature of the disease and detection of complications early for better management