Effect of COVID-19 pandemic on blood transfusion service: an experience from a regional blood transfusion center.

The unforeseen and uncertain life-threatening situation of the COVID-19 pandemic dramatically affected all areas of the human daily work schedule. This study was designed to assess the impact of the COVID-19 pandemic on blood transfusion services and discuss the adopted confrontation measures for uninterrupted blood supply during the pandemic situation. The data on blood donation, blood component preparation, and issue from January 2019 to December 2022 were collected from the inventory registers of the RBTC, Delhi, India. Compared to the non-pandemic year 2019, during the year 2020, all variables decreased gradually. The observed maximum decrease in variables such as blood collection (-79.16%) in the month of October, blood issue (-71.61%) in the month of August, random donor platelets (RDP) preparation (-98.09%) in the month of October, RDP issue (-86.08%) in the month of September, fresh frozen plasma (FFP) preparation (-100%) in the month of October, and FFP issue (-96.08%) in the month of July with an annual decrease of -45.52%, -42.87%, -33.00%, -59.79%, -40.98%, and -54.48%, respectively, as compared to year 2019. Compared to year 2020, in year 2021, the annual increase in blood collection, blood issue, FFP preparation, FFP issue, RDP preparation, and RDP issue was +50.20%, +21.68%, +65.31%, +78.52%, +116.23%, and +213.30%, respectively. Our study results show that the COVID-19 pandemic has significantly affected blood transfusion services at our blood bank. The adopted coping strategies to maintain the safe and uninterrupted blood transfusion chain at our blood bank gave us lessons for future preparedness if faced with a similar situation.

Myocilin variants in Indian patients with open-angle glaucoma.

OBJECTIVE: To identify and evaluate MYOC variant alleles among patients with primary open-angle glaucoma (POAG) and age-matched control subjects in an Indian population. METHODS: Three hundred fifteen patients with POAG and 100 unrelated control subjects from the same ethnic background were enrolled in the study. The coding sequence of MYOC was amplified by polymerase chain reaction using genomic DNA, followed by sequencing of the polymerase chain reaction products. Four single nucleotide polymorphisms were genotyped in different Indian subpopulations comprising 1466 individuals using SEQUENOM's homogeneous MassEXTEND assay. RESULTS: One novel mutation (Gly399Asp), 6 reported mutations (Gln48His, Thr256Met, Thr353Ile, Gln368Stop, Pro370Leu, and Ala427Thr), and 6 single nucleotide polymorphisms were identified in MYOC. Ala427Thr was identified in a patient with POAG and Parkinson disease. Four single nucleotide polymorphisms genotyped in control subjects were highly heterozygous and displayed a similar pattern of linkage disequilibrium among all linguistic groups. CONCLUSIONS: MYOC mutations account for 2.2% of POAG cases. The Gln368Stop mutation (common among persons of the white race) found in 2 families does not seem to be of white race origin. Identification of a MYOC mutation (Ala427Thr) in a patient with POAG and Parkinson disease is interesting with respect to reported interaction of myocilin with synucleins. CLINICAL RELEVANCE: Studying the genetics of POAG is helpful for preclinical identification and for better disease management.

Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change.

BACKGROUND: We investigated the molecular basis of primary open-angle glaucoma (POAG) using Opticin (OPTC) as a candidate gene on the basis of its expression in the trabecular meshwork cells involved in the disease pathogenesis. Two hundred POAG patients and 100 controls were enrolled in this study. The coding sequence of OPTC was amplified by PCR from genomic DNA of POAG patients, followed by SSCP, DHPLC and DNA sequencing. Subsequent bioinformatic analysis, site-directed mutagenesis, quantitative RT-PCR and western blot experiments were performed to address the functional significance of a 'silent' change in the OPTC coding region while screening for mutations in POAG patients. RESULTS: We detected two missense (p.Glu66Gly & p.Ile89Thr) and one silent change (p.Phe162Phe; c.602 C>T) that was present in 3 different patients but in none of the 100 controls screened. The mutant (c.602T) mRNA was predicted to have remarkably different secondary structure compared to the wild-type transcript by in silico approaches. Subsequent wet-lab experiments showed lower expression of the gene both at the mRNA and protein levels. CONCLUSION: Our study suggests OPTC as a candidate gene for POAG. Further, it highlights the importance of investigating the 'silent' variations for functional implication that might not be apparent from only in silico analysis.

Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma.

PURPOSE: To evaluate the role of the optineurin gene (OPTN) in Indian primary open angle glaucoma (POAG) patients from different parts of the country. METHODS: Two hundred patients with POAG and 200 ethnically matched normal controls were recruited from various parts of India for the study. The entire coding region of OPTN along with the intron-exon boundaries were screened by PCR and single strand conformation polymorphism (SSCP) followed by direct sequencing. A rapid screening method was developed for some of the observed variants by denaturing high performance liquid chromatography (dHPLC). Four variants were also confirmed by digesting the amplicon with appropriate restriction enzymes. RESULTS: Seven nucleotide changes were observed in OPTN of which one was a putative mutation in exon 16 (Arg545Gln) that was observed in six POAG patients and not in the controls (p<0.05). The remaining variants comprised four single nucleotide polymorphisms (SNPs) in the coding region (Thr34Thr, Met98Lys, Arg149Arg, and Asn303Lys) and two in intron 6 (879-10G>A and 879-5C>T). But frequencies of the minor allele were not significantly different among the patients and controls. The Met98Lys variant that was identified to be a potential risk factor for NTG and POAG in some Asian populations and also for modulating IOP in Caucasian populations, did not exhibit any significant association to the disease phenotype. CONCLUSIONS: Despite a putative mutation (Arg545Gln) in some patients, the present study does not suggest a significant involvement of OPTN in POAG patients of Indian origin.