Deep Convolutional Neural Network Mechanism Assessment of COVID-19 Severity.

As an epidemic, COVID-19's core test instrument still has serious flaws. To improve the present condition, all capabilities and tools available in this field are being used to combat the pandemic. Because of the contagious characteristics of the unique coronavirus (COVID-19) infection, an overwhelming comparison with patients queues up for pulmonary X-rays, overloading physicians and radiology and significantly impacting the quality of care, diagnosis, and outbreak prevention. Given the scarcity of clinical services such as intensive care and motorized ventilation systems in the aspect of this vastly transmissible ailment, it is critical to categorize patients as per their risk categories. This research describes a novel use of the deep convolutional neural network (CNN) technique to COVID-19 illness assessment seriousness. Utilizing chest X-ray images as contribution, an unsupervised DCNN model is constructed and suggested to split COVID-19 individuals into four seriousness classrooms: low, medium, serious, and crucial with an accuracy level of 96 percent. The efficiency of the DCNN model developed with the proposed methodology is demonstrated by empirical findings on a suitably huge sum of chest X-ray scans. To the evidence relating, it is the first COVID-19 disease incidence evaluation research with four different phases, to use a reasonably high number of X-ray images dataset and a DCNN with nearly all hyperparameters dynamically adjusted by the variable selection optimization task.

Molecular genetic analysis of a consanguineous south Indian family with congenital glaucoma: relevance of genetic testing and counseling.

The genetic background of congenital glaucoma in a consanguineous south Indian family was examined by homozygosity analyses. Significant evidence for the homozygosity of alleles was detected for markers D2S177 and D2S1346 that are tightly linked to the CYP1B1 gene, and further involvement of this gene was confirmed by the co-segregation of a novel truncating mutation (Q110X) in exon 2 with the disease in all affected members. Newborn genetic screening and carrier identification were also performed in the family. The role of consanguinity and the risk of autosomal recessive disease were discussed and genetic counseling was given.

OPTN gene: profile of patients with glaucoma from India.

PURPOSE: Optineurin gene (OPTN) mutations are reported in primary open angle glaucoma patients (POAG) from different populations. The coding and noncoding regions of OPTN were screened for mutations in 100 Indian high tension glaucoma patients (HTG). The frequency of the OPTN M98K mutation in an additional 120 patients (70 HTG and 50 normal tension glaucoma [NTG]) was analyzed by restriction enzyme digestion. METHODS: The HTG patients (about 40 years of age) were characterized by open angles on gonioscopy, with raised intraocular pressure (IOP) more than 21 mmHg (<21 mmHg on office diurnal phasing for NTG), and typical glaucomatous disc changes with corresponding visual field defects in the absence of any secondary cause. One hundred HTG patients and controls were screened for OPTN mutations by direct sequencing using an ABI prism 310/3100 Avant genetic analyzer. The M98K status was analyzed by restriction enzyme digestion with StuI. A genotype/phenotype correlation was also attempted for OPTN sequence alterations with clinical parameters such as age at diagnosis, intraocular pressure, cup:disc ratio, etc. The putative change in the transcription factor binding site for the IVS7 +24G>A polymorphism was attempted with AliBaba software (version 2.1). RESULTS: Six sequence alterations were observed in the 100 POAG patients by direct sequencing. The M98K substitution was observed in a total of 10 patients (7/170 HTG and 3/50 NTG) contributing to 4.1% in HTG and 6% in the NTG group and not in the controls. The IVS7+24G>A nucleotide change showed a significant difference in the HTG group (7/100) when compared to the control group (0/100) and found to be associated with increased IOP at diagnosis (p=0.03). The IVS7+24G>A polymorphism resulted in the creation of binding sites for transcription factors NF-1 and CPE that were not present in the wild type. CONCLUSIONS: The current study suggests a possible role of SNPs rather than mutations in OPTN in POAG pathology in the Indian population.