Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay.

Background: Heterozygous variants in (), encoding an essential and ubiquitously expressed cation channel, may cause hypomagnesemia, but current evidence is insufficient to draw definite conclusions and it is unclear whether any other phenotypes can occur.

Methods: Individuals with unexplained hypomagnesemia underwent whole-exome sequencing which identified variants. Pathogenicity of the identified variants was assessed by combining phenotypic, functional and analyses.

Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants.

Variants in the CNNM2 gene are causative for hypomagnesaemia, seizures and intellectual disability, although the phenotypes can be variable. This study aims to understand the genotype-phenotype relationship in affected individuals with CNNM2 variants by phenotypic, functional and structural analysis of new as well as previously reported variants. This results in the identification of seven variants that significantly affect CNNM2-mediated Mg transport.

IntAct: A nondisruptive internal tagging strategy to study the organization and function of actin isoforms.

Mammals have 6 highly conserved actin isoforms with nonredundant biological functions. The molecular basis of isoform specificity, however, remains elusive due to a lack of tools. Here, we describe the development of IntAct, an internal tagging strategy to study actin isoforms in fixed and living cells.

Removal of a Bent Humeral Intramedullary Nail: A Case Report and Review of Removal Techniques.

Case: We present a case of a (65°) bent intramedullary nail (IMN) in a humerus after a pseudoarthrosis in a 65-year-old man. Bent IMNs have been described in femurs and tibias, but are considered rare. Possibly even rarer is the bending of a humeral IMN.

Genetic and drug-induced hypomagnesemia: different cause, same mechanism.

Magnesium (Mg2+) plays an essential role in many biological processes. Mg2+ deficiency is therefore associated with a wide range of clinical effects including muscle cramps, fatigue, seizures and arrhythmias. To maintain sufficient Mg2+ levels, (re)absorption of Mg2+ in the intestine and kidney is tightly regulated.