Clinical significance of stratifying prostate cancer patients through specific circulating genes.

Patient stratification remains a challenge for optimal treatment of prostate cancer (PCa). This clinical heterogeneity implies intra-tumoural heterogeneity, with different prostate epithelial cell subtypes not all targeted by current treatments. We reported that such cell subtypes are traceable in liquid biopsies through representative transcripts.

Unprecedented Co-occurrence: Identification of a Pathogenic Genetic Variant in the KMT2B Gene in a Wilson Disease Patient with a Pathogenic ATP7B Mutation.

The pathophysiology of dystonia in Wilson disease (WD) is complex and poorly understood. Copper accumulation in the basal ganglia, disrupts dopaminergic pathways, contributing to dystonia's development via neurotransmitter imbalance. Despite advances in diagnosis and management, WD with dystonia remains a challenging condition to treat.

Helical transition of the bridge helix of Cas12a is an allosteric regulator of R-loop formation and RuvC activation.

CRISPR-Cas12a is widely used for genome editing and biomarker detection since it can create targeted double-stranded DNA breaks and promote non-specific DNA cleavage after identifying specific DNA. To mitigate the off-target DNA cleavage of Cas12a, we previously developed a Cas12a variant (FnoCas12a ) by introducing double proline substitutions (K969P/D970P) in a conserved helix called the bridge helix (BH). In this work, we used cryogenic electron microscopy (cryoEM) to understand the molecular mechanisms of BH- mediated activation of Cas12a.

Salivary microbiota dysbiosis and elevated polyamine levels contribute to the severity of periodontal disease.

Background: The oral cavity is a complex environment which harbours the second largest and most diverse microflora after the gastrointestinal tract. The bacteriome in the oral cavity plays a pivotal role in promoting the health and well-being of human beings. Gingivitis, an inflammation of the gingival tissue, arises due to plaque accumulation on the teeth, often leads to periodontitis.

Temporal response patterns of Layer 4 rat barrel cortex neurons across various naturalistic whisker motions.

A central topic in neuroscience is the neural coding problem which aims to decipher how the brain signals sensory information through neural activity. Despite significant advancements in this area, the characterisation of information encoding through the precise timing of spikes in the somatosensory cortex is limited. Here, we utilised a comprehensive dataset from previous studies to identify and characterise temporal response patterns of Layer 4 neurons of the rat barrel cortex to five distinct stimuli with varying complexities: Basic, Contact, Whisking, Rough, and Smooth.

Exploring CRISPR-Cas9 HNH-Domain-Catalyzed DNA Cleavage Using Accelerated Quantum Mechanical Molecular Mechanical Free Energy Simulation.

The target DNA (tDNA) cleavage catalyzed by the CRISPR Cas9 enzyme is a critical step in the Cas9-based genome editing technologies. Previously, the tDNA cleavage from an active SpyCas9 enzyme conformation was modeled by Palermo and co-workers (Nierzwicki et al., , 912) using ab initio quantum mechanical molecular mechanical (ai-QM/MM) free energy simulations, where the free energy barrier was found to be more favorable than that from a pseudoactive enzyme conformation.

Short-Term Endotamponade With Perfluorocarbon Liquids for Giant Retinal Tear-Associated Retinal Detachment.

To investigate the use of short-term postoperative endotamponade with perfluorocarbon liquids (PFCLs) for the treatment of giant retinal tear-associated rhegmatogenous retinal detachment (RRD). This retrospective study evaluated patients who had 2-stage surgery, which entailed pars plana vitrectomy (PPV) completed in 2 consecutive surgeries spaced 5 days apart, during which a short-term tamponade with PFCL was used (Group 1), and patients who had conventional single-stage PPV with long-term silicone oil (SO) tamponade (Group 2). The study comprised 74 eyes of 68 patients, 52 in Group 1 and 22 in Group 2.

Predictors of hypocalcaemia and hypoparathyroidism in patients undergoing thyroidectomy for benign and malignant pathologies.

Objective: To analyse the risk factors of hypoparathyroidism and hypocalcaemia after total thyroidectomy.

Methods: Clinical data of patients who underwent total thyroidectomy at a tertiary care hospital in southern part of India were collected retrospectively from January 2021 to May 2023. Multivariate logistic regression was used to analyse the risk factors associated with transient hypoparathyroidism and hypocalcaemia separately.

Antibacterial efficacy of carnosic acid as an intracanal medicament against : Quantitative polymerase chain reaction study.

Aim: The aim of this study was to quantitatively assess the antibacterial effectiveness of carnosic acid, propolis, and calcium hydroxide when used as intracanal medications against .

Methodology: Forty-six human mandibular single-rooted premolar root lengths were standardized to 12 mm after decoronation. Cleaning and shaping were performed.

Practice Trends for Hearing Aid Fitting for Adults Among Audiologists in India: A Survey.

Audiologists are hearing healthcare specialists dedicated to the rehabilitation of individuals with hearing loss by prescribing the appropriate amplification devices. The process of choosing and fitting hearing aids involves several steps for which standardized guidelines have been issued. The aim of the present investigation was to evaluate the patterns of practice employed by Indian audiologists in the evaluation and fitting of hearing aids for adults.

Improved tracking of corneal immune cell dynamics using confocal microscopy.

confocal microscopy (IVCM) is a widely used technique for imaging the cornea of the eye with a confocal scanning light ophthalmoscope. Cellular resolution and high contrast are achieved without invasive procedures, suiting the study of living humans. However, acquiring useful image data can be challenging due to the incessant motion of the eye, such that images are typically limited by noise and a restricted field of view.

Utility of Tau PET in the diagnostic work up of neurodegenerative dementia among Indian patients.

Background And Objectives: Tau PET is being increasingly appraised as a novel diagnostic modality for dementia work up. Given limited data among South Asians, we assessed the frequency, patterns, phenotypic associations and incremental value of positive Tau PET scans in clinically diagnosed neurodegenerative dementia.

Methods: This cross-sectional study recruited consecutive patients of Alzheimer's disease (AD) and non-AD syndromes (September 2021 to October 2022, India).

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients.

In this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR) and the variants identified were confirmed through Sanger sequencing. The clinical and biochemical parameters were compared among the mutation positive and negative subjects.

Bilateral Anti-VEGF on Same-Day-Investigation on Safety in Retinopathy of Prematurity: A Multicenter Retrospective Study.

Purpose: To report an incidence of procedure-related complications in preterm infants with retinopathy of prematurity (ROP) treated with intravitreal anti-VEGFs injection in both eyes on the same day.

Design: Retrospective, multicenter case series.

Subjects: Preterm infants with ROP treated with anti-VEGF bilaterally on the same day.

The Genomic Landscape of Wilson Disease in a Pan India Disease Cohort and Population-Scale Data.

Background: Wilson's disease (WD) results from pathogenic ATP7B gene variations, causing copper accumulation mainly in the liver, brain, and kidneys.

Objectives: In India, despite studies on ATP7B variants, WD often goes undiagnosed, with the prevalence, carrier rate, and mutation spectrum remaining unknown.

Methods: A multicenter study examined genetic variations in WD among individuals of Indian origin via whole exome sequencing.

Adapting the Social Norms Exploration Tool in the Democratic Republic of the Congo to Identify Social Norms for Behavior Change.

In the Democratic Republic of the Congo (DRC), male engagement, social norms, and social networks mitigate family planning behavior. We discuss the adaptation of the Social Norms Exploration Tool (SNET), which identifies relevant social norms and community members upholding these norms, to inform the development of family planning interventions in the DRC. The SNET provides activity tools and templates to guide users through the following steps: (1) plan and prepare, (2) identify reference groups, (3) explore social norms, (4) analyze results, and (5) apply findings.

Obesity in patients with craniopharyngioma in the South Asian region - A distinct phenotype.

Background: Craniopharyngiomas are rare benign tumors located in the sellar and suprasellar region, with an incidence of 0.5-2 cases per million as reported in Western studies. Post-treatment, including surgery and/or radiotherapy, many patients develop significant obesity, primarily due to hypothalamic damage and associated complications such as hypopituitarism.

Prognostic Role of Ultrasound Diagnostic Methods in Patients with Acute Decompensated Heart Failure.

Objectives: To evaluate the prognostic value (total mortality + repeated hospitalization for heart failure (HF)) of ultrasound diagnostic methods in patients with acute decompensated HF (ADHF).

Methods: The subjects were patients with chronic HF, who were hospitalized for ADHF. Using ultrasound methods-lung ultrasound, ultrasound assessment of hepatic venous congestion as per the venous excess ultrasound (VExUS) protocol, and indirect elastometry-we assessed the number of B-lines, hepatic venous congestion, and liver density of the patients.