Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis

Thomas, Derin M; Kannabiran, Chitra; Balasubramanian, D.

doi:10.3389/fmed.2021.690594

Cited by 13 publications

(4 citation statements)

References 69 publications

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“…PFV occurs when regression of the embryological primary vitreous and hyaloid vasculature fails to occur, and dysregulation of apoptosis has been theorized to be a potential cause. 11 However, the exact pathogenic mechanism remains unclear. In zebrafish, the Bcl6 ortholog Bcl6a has been shown to suppress p53-dependent apoptosis during embryogenesis to prevent formation of colobomata.…”

Section: Discussionmentioning

confidence: 99%

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome

Fan,

Santos da Cruz,

Negron

et al. 2024

American Journal of Ophthalmology Case Reports

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Section: Discussionmentioning

confidence: 99%

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome

Fan,

Santos da Cruz,

Negron

et al. 2024

American Journal of Ophthalmology Case Reports

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“…The isolated fibrovascular stalk in our case suggests an uncomplete regression course. We referred to the pathogenesis of PHPV in the literature, it has been reported that a number of genes and pathways primarily associated with eye morphogenesis, the apoptotic process, autophagy, and the angiogenic process were involved in the regression of hyaloid vasculature [ 23 ]. Besides, the macrophages may also play a central role in the blocking of blood flow, induction of apoptosis, and clearance of atrophic vessels during regression of the hyaloid vascular system [ 24 , 25 ].…”

Section: Discussionmentioning

confidence: 99%

Non-typical persistent hyperplastic primary vitreous: a rare case report and review of the literature

Qiao

Chen

et al. 2023

BMC Ophthalmol

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Background Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature (PFV), is a clinical entity that traditionally presents with leukocoria, microphthalmia, retinal dysplasia, or eyeball shrinkage which is associated with poor vision. However, there is a dearth of literature on cases of PHPV in adulthood or with asymptomatic occurrence. This report presents the clinical and pathological findings of a non-typical PHPV case and discuss the current knowledge for this condition. Case presentation A 68-year-old healthy male was referred to our outpatient department for evaluation of age-related cataract without other visual symptoms. Preoperative fundus examination occasionally detected an isolated stalk-like band extending to the posterior pole of the eye with normal central vitreous and retina. Other ocular examinations including b-mode ultrasonography, optical coherence tomography did not unveil any abnormalities, which caused diagnostic uncertainty. We referred to cataract surgery along with histopathological study, that revealed characteristics of PHPV including fibrous connective tissues mainly composed of fibrocyte proliferation and a very few capillary vessels. Thereafter, a definitive diagnosis of non-typical PHPV was established. Conclusion Our case is unique due to it was not discovered until adulthood, presence with only age-related cataract, and accompanied with normal central vitreous and retina. Histopathological explorations lead to an accurate diagnosis of the condition. Those results broaden the phenotype spectrums of PHPV and further provide clinical clues for the cognition of the disease.

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“…The enrichment results were obtained by analyzing significant genes in each of the three data sets using KEGG Mapper (Supplemental sheets 1, 2, and 3). 33 ShinyGO was used to create a pathway visualization of the common 10 significant genes.…”

Section: Go and Pathway Enrichment Analysismentioning

confidence: 99%

Identification and Exploration of Transcripts Involved in Antibiotic Resistance Mechanism of Two Critical Superbugs

Sahoo,

Mohanty,

Routray

et al. 2024

Gene Expr

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Background and objectives: Infectious diseases caused by pathogenic strains of bacteria are a global cause of morbidity and mortality. Hospital-acquired infections caused by Klebsiella pneumonia and Pseudomonas aeruginosa were found vulnerable during the COVID-19 pandemic. They are also responsible for the onset of certain life-threatening infectious diseases such as cystic fibrosis, endocarditis, bacteremia, and sepsis. Looking into the importance of these two superbugs there is a strong need for extensive comparative differential gene expression analysis among the wild-type and mutant for betterment of intensive care unit patients especially as such pathogenic bacterial strains have a dangerous role in the intensive care unit.Methods: This study revealed the RNA microarray gene expression profiles of GSE24688, GSE4026, and GSE117438. The study compared all genes from three different datasets and all drug resistance genes from two divergent organisms, Klebsiella pneumonia and Pseudomonas aeruginosa.Results: 10 numbers of shared significant genes and five drug resistance genes were obtained in this study. These putative genes may show intriguing patterns of connection with resistance mechanisms and can be used in the field of diagnostics and treatment. Our divergent analysis also revealed a very clear distinct relation between Klebsiella pneumoniae and Pseudomonas aeruginosa at the genetic level, though they both function under antimicrobial resistance. Conclusions:This study enhances the understanding of the genetic basis, providing valuable knowledge for the development of new strategies to combat antibiotic resistance and enhance the efficacy of existing antibiotics.

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Identification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis

Abstract: Graphical AbstractSchematic diagram for evaluating and identifying the key genes, molecular pathways, predicted drug targets of PHPV.

Cited by 13 publications

References 69 publications

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome

Foveal photoreceptor atrophy, persistent fetal vasculature, congenital cataracts, and microphthalmia in a pediatric patient with BCOR-associated oculo-facio-cardio-dental (OFCD) syndrome

Non-typical persistent hyperplastic primary vitreous: a rare case report and review of the literature

Identification and Exploration of Transcripts Involved in Antibiotic Resistance Mechanism of Two Critical Superbugs

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