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.

Diacylglycerol kinase α (DGKα) and DGKζ are lipid kinases that negatively regulate T-cell signaling through diacylglycerol metabolism, making them attractive targets for next-generation immunotherapy.

The t(15;17)(q22;q21) is a well-known cytogenetic abnormality in acute promyelocytic leukemia (APL) and has defined management and better outcomes compared to other acute myeloid leukemia subtypes. Acute myeloid leukemia (AML) with t(15;17)(q21;p11.2) cytogenetic abnormality and associated B2M::RARA molecular abnormality has not been previously reported.

We aimed to study the diagnostic yield and clinical impact of trio exome sequencing (tES) in children with autism spectrum disorder (ASD). Participants (n = 137) between 2 and 18 years with syndromic and non-syndromic ASD underwent tES, after excluding karyotype- detectable cytogenetic abnormalities and fragile X syndrome. The diagnostic yield was 22/137 (16.1%) when considering only pathogenic (P) and likely-pathogenic (LP) variants in known disease-causing genes.