A novel somatic mutation in GNB2 provides new insights to the pathogenesis of Sturge-Weber syndrome.

Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by vascular malformations affecting skin, eyes and leptomeninges of the brain, which can lead to glaucoma, seizures and intellectual disability. The discovery of a disease-causing somatic missense mutation in the GNAQ gene, encoding an alpha chain of heterotrimeric G-proteins, has initiated efforts to understand how G-proteins contribute to SWS pathogenesis. The mutation is predominantly detected in endothelial cells and is currently believed to affect downstream MAPK signalling.

Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.

Patients with PEX3 mutations usually present with a severe form of Zellweger spectrum disorder with death in the first year of life. Whole exome sequencing in adult siblings with intellectual disability revealed a homozygous variant in PEX3 that abolishes the normal splice site. A cryptic acceptor splice site is activated and an in-frame transcript with a deletion is produced.

Pathogenic variants in KCTD7 perturb neuronal K+ fluxes and glutamine transport.

Progressive myoclonus epilepsy is a heterogeneous group of disorders characterized by myoclonic and tonic-clonic seizures, ataxia and cognitive decline. We here present two affected brothers. At 9 months of age the elder brother developed ataxia and myoclonic jerks.

Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.

Background: The genetic understanding of primary familial brain calcification (PFBC) has increased considerably in recent years due to the finding of causal genes like SLC20A2, PDGFRB and PDGFB. The phenotype of PFBC is complex and has as of yet been poorly delineated. The most common clinical presentations include movement disorders, cognitive symptoms and psychiatric conditions.

Combined inhibition of the cell cycle related proteins Wee1 and Chk1/2 induces synergistic anti-cancer effect in melanoma.

Background: Malignant melanoma has an increasing incidence rate and the metastatic disease is notoriously resistant to standard chemotherapy. Loss of cell cycle checkpoints is frequently found in many cancer types and makes the cells reliant on compensatory mechanisms to control progression. This feature may be exploited in therapy, and kinases involved in checkpoint regulation, such as Wee1 and Chk1/2, have thus become attractive therapeutic targets.

Extrahepatic bile duct atresia and viral involvement.

Several etiological factors have been suggested in the pathogenesis of extrahepatic biliary atresia (EHBA); congenital, metabolic, infectious, and multifactorial. Herein we present a study of 10 children with EHBA, the aim being to explore viral infection as a possible cause of their condition. During a period of 2 yr, all infants with EHBA were included in a study and examined on viral disease on admittance for Kasai operation.

Primary health care in war and disaster and the NorAid system.

When the infrastructure in a community is destroyed by manmade or natural disaster, even the simplest health services may be difficult to maintain. By the Alma Ata declaration, the World Health Organization (WHO) proclaimed, "Health for all by the year 2000." The program is designed to cover the basic health needs as defined by the Primary Health Care (PHC) system.

[Cytomegalovirus infection in neonates. Diagnosis and therapeutic experiences].

Approximately 0.5-1% of all newborns are born infected with cytomegalovirus (CMV), but of these only one out of ten show symptoms at birth, most often with hepatosplenomegaly, thrombocytopenia, and/or brain affection. Of the remaining nine, one may later develop sequelae with hearing loss and/or mental retardation.

[When children become acutely ill].

This article covers various aspects characteristic of acute paediatric medicine, such as special symptomatology and physical parameters that differ with age. The aim is to increase the confidence of newly trained colleagues in their examination of small children, and to make them alert to the development of alarming symptoms. Some simple routines for initial treatment in hospital are also suggested.