Target volume definition of lung cancer between PET-CT and CT-based dosimetric planning.

Background: Lung cancer is the most common cancer worldwide with an incidence and mortality of 12.4% and 18.7%, respectively.

Ubiquitin-specific protease 6 (USP6) mRNA lipid nanoparticles ignite anti-tumor immunity and suppress tumorigenesis in Ewing sarcoma.

Ewing sarcoma (ES) is an aggressive pediatric cancer that has remained refractory to current therapeutics. Immunotherapy has been unsuccessful in ES, largely due to poor understanding of how its immune tumor microenvironment (TME) is regulated. We recently demonstrated that ubiquitin-specific protease 6 (USP6) can remodel the ES immune landscape to engender an anti-tumorigenic TME.

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

As the discovery of new genes causing inherited retinal disease (IRD) has plateaued, we look to other factors which could be used to maximize diagnostic yield. We analyzed whole-exome sequencing (WES) data from 506 IRD probands, focusing on the interplay between diagnostic yield, age of symptom onset or diagnosis, family history, and initial clinical diagnosis. The cohort's overall diagnostic yield was 49.

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Purpose: To analyze the phenotypic and genotypic characteristics of inherited retinal degeneration (IRD) patients of Malay and Indian ethnicity from Singapore and Malaysia.

Methods: Ethnic Malay and Indian IRD patients were consecutively enrolled from retina clinics in Singapore and Malaysia. Phenotypic and genetic data were reviewed.

Fundus autofluorescence features specific for EYS-associated retinitis pigmentosa.

Purpose: To assess the utility of fundus autofluorescence (FAF) patterns for predicting the EYS genotype in retinitis pigmentosa (RP) patients.

Methods: This retrospective, multi-institutional study analyzed FAF images from 200 RP patients (74 with EYS and 126 without EYS) from Singapore and Japan. Seven FAF patterns including the infinity sign and a broad banded hyper-autofluorescent leading edge were evaluated for their association with the EYS genotype.

Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.

Purpose: This study compares clinical characteristics of retinitis pigmentosa (RP) associated with mutations in the EYS and USH2A genes in a Southeast Asian cohort.

Methods: Prospective single-center study of families with EYS- or USH2A-associated RP seen at the Singapore National Eye Centre. Comprehensive ophthalmic evaluations, multimodal imaging, genetic testing, and longitudinal follow-up identified clinically useful differentiating features between the two genotypes.

Utility of multimodal imaging in the clinical diagnosis of inherited retinal degenerations.

Inherited retinal degeneration (IRD) is a heterogeneous group of genetic disorders of variable onset and severity, with vision loss being a common endpoint in most cases. More than 50 distinct IRD phenotypes and over 280 causative genes have been described. Establishing a clinical phenotype for patients with IRD is particularly challenging due to clinical variability even among patients with similar genotypes.

Demographic diversity in platelet function and response to antiplatelet therapy.

Recent studies have highlighted the complexity of platelet biology, revealing their diverse roles beyond hemostasis. Pathological platelet activation is now recognized as a key contributor to thrombosis and inflammation that are both central to cardiovascular disease (CVD). Emerging research emphasizes the significant impact of demographic factors - such as age, sex, race, and ethnicity - on CVD risk and responses to antiplatelet therapies.

Lipid remodeling in megakaryocyte differentiation and platelet biogenesis.

Lipid remodeling, from fatty acid transport and de novo lipid synthesis, is necessary for megakaryocyte differentiation and platelet production. Dietary saturated fatty acids, impaired fatty acid transport and/or dysfunction in lipid biogenesis can contribute to low platelet counts.

Profile of Childhood Glaucoma Attending a Tertiary Eye Care Center in Northern India.

Purpose: To ascertain the prevalence and clinical features of the various types of childhood glaucoma at a tertiary eye care hospital in Northern India.

Materials And Methods: Retrospective chart review of all children less than 16 years of age with childhood glaucoma who presented from 1 April 2014 to 31 March 2019, who was diagnosed to have any subtype of childhood glaucoma as per Childhood Glaucoma Research Network (CGRN) classification and advised appropriate management.

Results: Out of 405 children with childhood glaucoma, 36% had primary glaucoma, whereas the rest had secondary glaucoma.

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Purpose: The study aimed to describe the phenotypic features of retinitis pigmentosa (RP) associated with the previously described EYS C2139Y variant in Singaporeans and establish the importance of this variant as a prevalent cause of RP among East Asians.

Methods: A clinical phenotyping and exome-sequencing study was conducted on consecutive patients with nonsyndromic RP. Epidemiological analysis was performed using Singaporean and global population-based genetic data.

Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

Background: Ongoing trials for retinitis pigmentosa (RP) are genotype-specific, with most trials conducted on European cohorts. Due to genetic differences across diverse ancestries and populations, these therapies may not be efficacious in East Asians.

Materials And Methods: A literature search was conducted from 1966 to September 2022 for cohort studies on East Asian populations reporting on non-syndromic RP genotypes and variants.

Does Structured Patient Education Reduce the Peri-Operative Anxiety and Depression Levels in Elective Chest Surgery Patients? A Double-Blinded Randomized Trial of 300 Patients.

Psychological distress associated with surgery is an emerging issue. The study was conducted to assess the impact of structured patient education viz-a-viz routine patient education on anxiety and depression levels in patients undergoing elective chest surgery. It is a prospective, double-blind randomized study, conducted from February 2019 to February 2020 at a tertiary care center in India, on patients who underwent elective chest surgeries.

Platelet-derived TLT-1 promotes tumor progression by suppressing CD8+ T cells.

Current understanding of tumor immunosuppressive mechanisms forms the basis for modern day immunotherapies. Immunoregulatory role of platelets in cancer remains largely elusive. Platelets from non-small cell lung cancer (NSCLC) patients revealed a distinct activation phenotype.

Unfolded Protein Response Differentially Modulates the Platelet Phenotype.

Background: Unfolded protein response (UPR) is a multifaceted signaling cascade that alleviates protein misfolding. Although well studied in nucleated cells, UPR in absence of transcriptional regulation has not been described. Intricately associated with cardiovascular diseases, platelets, despite being anucleate, respond rapidly to stressors in blood.

Iris cysts: Varied presentations and review of literature.

An iris cyst is a nonkeratinized squamous epithelial-lined space involving a layer of iris. The presentation of iris cyst can be variable-innocuous or presenting with secondary complications. The identification of whether the cyst is primary or secondary is important.

The Escherichia coli serS gene promoter region overlaps with the rarA gene.

Deletion of the entire gene encoding the RarA protein of Escherichia coli results in a growth defect and additional deficiencies that were initially ascribed to a lack of RarA function. Further work revealed that most of the effects reflected the presence of sequences in the rarA gene that affect expression of the downstream gene, serS. The serS gene encodes the seryl aminoacyl-tRNA synthetase.

A guide to molecular and functional investigations of platelets to bridge basic and clinical sciences.

Platelets have been shown to be associated with pathophysiological process beyond thrombosis, demonstrating critical additional roles in homeostatic processes, such as immune regulation, and vascular remodeling. Platelets themselves can have multiple functional states and can communicate and regulate other cells including immune cells and vascular smooth muscle cells, to serve such diverse functions. Although traditional platelet functional assays are informative and reliable, they are limited in their ability to unravel platelet phenotypic heterogeneity and interactions.

Iridocorneal Endothelial Syndrome with Coexisting Macular Edema and Neurosensory Detachment: An Unusual Case Report.

The iridocorneal endothelial (ICE) syndrome is a sporadic, unilateral condition characterized by abnormalities of the cornea, anterior chamber angle, and iris affecting middle-aged women (3rd to 5th decade). It consists of three variants: progressive iris atrophy, Cogan-Reese syndrome-diffuse nevus or iris nodules, and Chandler syndrome-corneal endothelial abnormalities leading to corneal edema. This syndrome has an abnormal corneal endothelial cell layer (proliferative endotheliopathy), which migrates across the angle and onto the surface of the iris.

The rarA gene as part of an expanded RecFOR recombination pathway: Negative epistasis and synthetic lethality with ruvB, recG, and recQ.

The RarA protein, homologous to human WRNIP1 and yeast MgsA, is a AAA+ ATPase and one of the most highly conserved DNA repair proteins. With an apparent role in the repair of stalled or collapsed replication forks, the molecular function of this protein family remains obscure. Here, we demonstrate that RarA acts in late stages of recombinational DNA repair of post-replication gaps.

Low-dose Aspirin prevents hypertension and cardiac fibrosis when thromboxane A is unrestrained.

Enhanced platelet activation has been reported in patients with essential hypertension and heart failure. The possible contribution of platelet-derived thromboxane (TX)A in their pathophysiology remains unclear. We investigated the systemic TXA biosynthesis in vivo and gene expression of its receptor TP in 22 essential hypertension patients and a mouse model of salt-sensitive hypertension.

Evaluation of Patients Record and its Implications in the Management of Trauma Patients.

Introduction: A medical record audit is a type of quality assurance task which involves formal reviews and assessments of medical records to identify where a medical organization stands in relation to compliance and standards. A study was carried out with the objective to document the audit of the medical records in a tertiary care trauma center and suggest the corrective measures and preventive measures in case of lacunae.

Methodology: A retrospective study was conducted in an apex trauma care facility of New Delhi.