Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.

Purpose: The TAOK proteins are a group of serine/threonine-protein kinases involved in signalling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity.

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Background: The Roma population are an endogamous, genetically isolated, minority population who migrated from North-Western India to Europe from the 10 Century throughout the Byzantine period and continues to the present day. Approximately 10-12 million Romani people reside in segregated settlements in Europe, and smaller populations live in North America and China. In addition to the endogamy, they also practice consanguinity.

Modern tools for optimizing fluid management in dialysis patients: a comprehensive review.

Maintaining optimal fluid balance is crucial for patients with end-stage renal disease on dialysis, as both fluid overload and excess removal can lead to poor outcomes. Traditional approaches such as physical exam and chest X-ray have limitations when assessing volume status. This review carefully examines the tools that provide more precise options, including lung ultrasound, echocardiography, Venous Excess Ultrasound (VEXUS), bioimpedance analysis (BIA), and passive leg raise (PLR).

Follistatin From hiPSC-Cardiomyocytes Promotes Myocyte Proliferation in Pigs With Postinfarction LV Remodeling.

Background: When human induced pluripotent stem cells (hiPSCs) that CCND2-OE (overexpressed cyclin-D2) were differentiated into cardiomyocytes (hiPSC-CMs) and administered to the infarcted hearts of immunodeficient mice, the cells proliferated after administration and repopulated >50% of the scar. Here, we knocked out human leukocyte antigen class I and class II expression in hiPSC-CMs (hiPSC-CMs) to reduce the cells' immunogenicity and then assessed the therapeutic efficacy of hiPSC-CMs for the treatment of myocardial infarction.

Methods: hiPSC-CM and wild-type hiPSC-CM (hiPSC-CM) spheroids were differentiated in shaking flasks, purified, characterized, and intramyocardially injected into pigs after ischemia/reperfusion injury; control animals were injected with basal medium.