Transcriptomic analysis reveals a critical role for activating Gα mutations in spontaneous feline hyperthyroidism.

Feline hyperthyroidism (FHT) is a debilitating disease affecting > 10% of elderly cats. It is generally characterised by chronic elevation of thyroid hormone in the absence of circulating TSH. Understanding of the molecular pathogenesis of FHT is currently limited.

Hepatic Gene Expression of Angiogenic and Regeneration Markers in Cats with Congenital Portosystemic Shunts (CPSS).

Congenital portosystemic shunts (CPSS) are vascular anomalies resulting in liver hypoplasia and hepatic insufficiency. Cats with CPSS typically show signs of hepatic encephalopathy associated with increased ammonia, inflammatory cytokines, and oxidative stress. Surgical attenuation of the CPSS results in improved liver function, resolution of clinical signs, and increased portal blood flow.

Can ChatGPT pass the MRCP (UK) written examinations? Analysis of performance and errors using a clinical decision-reasoning framework.

Objective: Large language models (LLMs) such as ChatGPT are being developed for use in research, medical education and clinical decision systems. However, as their usage increases, LLMs face ongoing regulatory concerns. This study aims to analyse ChatGPT's performance on a postgraduate examination to identify areas of strength and weakness, which may provide further insight into their role in healthcare.

Pharmacological and Genetic Disruption of C-Type Natriuretic Peptide () Expression in Zebrafish () Causes Stunted Growth during Development.

Human patients with mutations within or genes (encoding C-type natriuretic peptide (CNP) and guanylyl cyclase-B (GC-B), respectively) display clinical signs associated with skeletal abnormalities, such as overgrowth or short stature. Mice with induced models of or deletion display profound achondroplasia, dwarfism and early death. Recent pharmacological therapies to treat short stature are utilizing long-acting CNP analogues, but the effects of manipulating CNP expression during development remain unknown.

Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in .

variants are known to cause Cornelia de Lange Syndrome (CdLS) which encompasses a clinical spectrum of intellectual disability, dysmorphic features (long or thick eyebrows, a hypomorphic philtrum and small nose) and, in some cases, epilepsy. More recently, truncating variants have been described as the cause of a neurodevelopmental disorder with early-childhood onset drug-resistant epilepsy with seizures that occur in clusters, similar to that seen in -related epilepsy, but without the classical features of CdLS. Here, we report the case of a 28-year-old woman with a heterozygous truncating variant in who unusually presented with seizures at the late age of 12 years and had normal development into adulthood.