Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.

Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from mutations in the gene, disrupting isoprenoid biosynthesis, and affecting cellular processes. This comprehensive review provides an updated perspective on MKD, including its aetiology, pathogenesis, diagnostic modalities, and therapeutic strategies. Based on recent research and clinical advances, our objective is to bridge the knowledge gaps in the 2015 SHARE guidelines.

Rapid, potent, and persistent covalent chemical probes to deconvolute PI3Kα signaling.

Chemical probes have gained importance in the elucidation of signal transduction in biology. Insufficient selectivity and potency, lack of cellular activity and inappropriate use of chemical probes has major consequences on interpretation of biological results. The catalytic subunit of phosphoinositide 3-kinase α (PI3Kα) is one of the most frequently mutated genes in cancer, but fast-acting, high-quality probes to define PI3Kα's specific function to clearly separate it from other class I PI3K isoforms, are not available.

EULAR/PReS recommendations for the diagnosis and management of Still's disease, comprising systemic juvenile idiopathic arthritis and adult-onset Still's disease.

Unlabelled: Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD) are considered the same disease, but a common approach for diagnosis and management is still missing.

Methods: In May 2022, EULAR and PReS endorsed a proposal for a joint task force (TF) to develop recommendations for the diagnosis and management of sJIA and AOSD. The TF agreed during a first meeting to address four topics: similarity between sJIA and AOSD, diagnostic biomarkers, therapeutic targets and strategies and complications including macrophage activation syndrome (MAS).

Synchronous Breast and Colorectal Malignant Tumors-A Systematic Review.

Unlabelled: The incidence of breast and colorectal cancers is well established in studies, but the synchronous occurrence of the two types of tumors is a rarity. In general, they are discovered during screening investigations following the diagnosis of an initial tumor.

Objective: Our aim is to describe the main diagnostic and therapeutic challenges for synchronous breast and colorectal tumors.

Management of Peritoneal Dialysis-Associated Emergencies during the COVID-19 Pandemic: The Experience of a Center of Excellence.

The COVID-19 pandemic struck unexpectedly; emergency services and chronic care institutions, including dialysis centers, were overloaded. A significant problem was the care of COVID-positive patients alongside the care of chronically dialyzed patients who presented emergencies. In our hospital, which became a COVID support center for dialysis patients with severe forms of the disease, we had to care for PD patients with dialysis-related emergencies.