Medical costs of children admitted to the neonatal intensive care unit: The role and possible economic impact of WES in early diagnosis.

It has been estimated that at least 6.0% of neonates admitted to the Neonatal Intensive Care Unit remains genetically undiagnosed because genetic testing is not routinely performed. The objective of this study is to provide an overview of average healthcare costs for patients admitted to the Neonatal Intensive Care Unit and to assess possible impact of implementing Whole Exome Sequencing (WES) on these total healthcare costs.

Pain at home during childhood cancer treatment: Severity, prevalence, analgesic use, and interference with daily life.

Background: Pain is a common symptom in childhood cancer. Since children spend more time at home, families are increasingly responsible for pain management. This study aimed at assessing pain at home.

Genetic variation in the functional ENG allele inherited from the non-affected parent associates with presence of pulmonary arteriovenous malformation in hereditary hemorrhagic telangiectasia 1 (HHT1) and may influence expression of PTPN14.

HHT shows clinical variability within and between families. Organ site and prevalence of arteriovenous malformations (AVMs) depend on the HHT causative gene and on environmental and genetic modifiers. We tested whether variation in the functional ENG allele, inherited from the unaffected parent, alters risk for pulmonary AVM in HHT1 mutation carriers who are ENG haploinsufficient.

Mutation analysis of alpha-galactosidase a gene in Hungarian Fabry patients.

Unlabelled: AIM was to detect the mutations of alpha-galactosidase A gene in two Hungarian Fabry patients.

Methods: Mutation analysis was performed by polymerase chain reaction (PCR) sequencing of the seven exons and adjacent introns of the alpha-galactosidase A gene.

Results: Case 1.

Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.

Hereditary haemorrhagic telangiectasia (HHT) [corrected] is a vascular dysplasia syndrome caused by mutations in transforming growth factor-β/bone morphogenetic protein pathway genes, ENG and ACVRL1. HHT [corrected] shows considerable variation in clinical manifestations, suggesting environmental and/or genetic modifier effects. Strain-specific penetrance of the vascular phenotypes of Eng(+/-) and Tgfb1(-/-) mice provides further support for genetic modification of transforming growth factor-β pathway deficits.

The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.

Background And Aims: Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease. We examined whether H1069Q, the most common ATP7B mutation, is associated with a specific phenotype.

Methods: Genotyping results in 70 Dutch patients were related to clinical presentation.

Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.

Four unrelated patients with glyceroluria ranging from 7 to 170 mmol/l were studied. The activity of glycerol kinase (GK) in cultured fibroblasts was determined with a specific enzyme assay and with two indirect methods, that is, incorporation into macromolecules of [(14)C] from [(14)C]glycerol and its oxidation to [(14)C]CO(2). Exon amplification and RT-PCR were used to identify mutations.

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia.

Mutations of the Bruton's tyrosine kinase (Btk) gene cause X linked agammaglobulinaemia (XLA). This inherited immunodeficiency disease causes an arrest in B cell differentiation of pre-B cells to mature B cells. In this study we report the characterisation of mutations in the Btk gene in 10 unrelated XLA families.

[Mechanizing the enzyme-linked immunosorbent assay (ELISA) in repressive testing for Trichinella spiralis infections in fattening pigs (author's transl)].

The constuction of and procedure adopted in a rail system for use in a macro-enzyme-linked immunosorbent assay (ELISA) are described. This method is used in the serodiagnosis of Trichinella spiralis infections in fattening pigs. Two persons will be able to test 4,000 sera daily using this system.

Mechanization of the enzyme-linked immunosorbent assay (ELISA) for large scale screening of sera.

An on-line routing system (including dispensers, washing device, spectrophotometer, carts, elevators and identification device) for macro-ELISA is described. The system enables processing of 4,000 sera daily by 2 persons. Test results are presented on a data sheet as a combination of identification number and extinction value.