Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure.

Background: Pediatric acute liver failure (PALF) is a rare and life-threatening condition. In up to 50% of PALF cases, the underlying etiology remains unknown during routine clinical testing. This lack of knowledge complicates clinical management and liver transplantation decisions.

Life-cycle cost assessment of hull protection technologies considering their effect on the environmental friendliness of fishing vessels.

Biofouling represents a global challenge for the maritime industry, affecting vessel performance and environmental footprint. This paper analyses various antifouling technologies to reduce the vessel's environmental impact and its operating costs by reduced fuel consumption and less frequent dry-docking. It evaluates both passive and active technologies - passive referring to antifouling coatings and active involving systems that continuously prevent biofouling using energy.

Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarker.

Hereditary tyrosinemia type 1 (HT1) is a rare metabolic disease resulting in acute liver failure in early infancy, hypophosphataemic rickets, neurological crises, liver cirrhosis and risk of hepatocellular carcinoma later on in life. It is caused by the deficiency of the enzyme fumarylacetoacetate hydrolase which is involved in the terminal step of the catabolic pathway of tyrosine. Diagnosis is made through clinical suspicion supported by biochemical abnormalities that result from accumulation of upstream metabolites.

Clinical outcomes of ABCB4 heterozygosity in infants and children with cholestatic liver disease.

Objectives: Biallelic variants in the adenosine triphosphate binding cassette subfamily B member 4 (ABCB4) gene which encodes the multidrug resistance 3 protein (MDR3) leads to progressive familiar intrahepatic cholestasis type 3. However, monoallelic variants are increasingly recognized as contributing to liver disease in adults. Our aim was to describe the clinical characteristics of MDR3 heterozygous variants in a large cohort of infants and children with cholestatic liver disease.