Sarcomas exhibit clinicopathologic heterogeneity, leading to diagnostic and therapeutic uncertainty. This study assesses the clinical value of integrating targeted RNA-based next-generation sequencing (NGS) into a multidisciplinary sarcoma workflow to improve diagnosis, enable comprehensive molecular characterization, and inform personalized treatment strategies.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) and X-Linked Alport Syndrome (AS) are the most common monogenic causes of chronic kidney disease (CKD), each capable of independently leading to end-stage kidney disease (ESKD). However, the concurrent presence of both disorders in a single individual is exceedingly rare and poses significant diagnostic complexity.

Heterozygous familial hypercholesterolemia (FH), a monogenic cause for premature coronary artery disease (CAD) is often underdiagnosed. In individuals who meet the FH diagnostic criteria and lack pathogenic variants, polygenic factors are recognized as potential contributors.

Chronic lymphatic leukemia (CLL) is the most common type of leukemia in the West, with an incidence of 4.2 per 100 000 population. Penile prepuce involvement at presentation, as the first manifestation of CLL, is extremely rare.

Isolated growth hormone deficiency (IGHD) is one of the treatable causes of short stature. We aimed to describe the clinical, biochemical, and molecular characteristics of IGHD and identify clinical predictors of mutation positivity and first-year height response to recombinant human growth hormone (rhGH).

Gene duplication followed by adaptation to new selection pressures has been proposed to be of central importance in the evolution of venom toxins. Coupling high-quality genome data with quantitative bioactivity readouts can be used to understand how venom toxins evolved, but such studies are rare. Here, we report a near chromosomal-level genome assembly for Doratifera vulnerans (Lepidoptera: Limacodidae), which is venomous in the larval stage.

Diabetic retinopathy, a microvascular complication of diabetes, is a primary cause of vision loss. Elevated levels of Nε-(Carboxymethyl) lysine (CML), the predominant advanced glycation end product, are associated with its progression. To delve into the critical aspects of CML-induced epigenetic modulation, this study analysed DNA methylation profiles in a co-culture model following CML exposure.

Primary distal renal tubular acidosis (dRTA) is a rare inherited renal tubular disorder having a significant impact on growth and kidney function. Data on molecular genetics and long-term outcomes of primary dRTA, especially for newer genotypes, are limited.

We present a case of a well-thriving infant, who was evaluated for recurrent fever over the past 4 months. History and prior investigations revealed recurrent urinary tract infections (UTIs). A comprehensive workup for recurrent UTIs showed no structural abnormalities of the kidneys or urinary tract.

Obesity is a complex disorder, manifested by the interaction of inherited and environmental factors and modulated by a person’s lifestyle habits. India has witnessed more than a two-fold increase in the number of overweight adults in the last 30 years. The polygenic risk score (PRS) quantitatively measures an individual’s risk for common diseases.