A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the gene. Five Cypriot patients (four males and one female) were diagnosed with a CblC defect. Age at diagnosis ranged from 10 days to 9 months.

No one-size-fits-all: Multi-actor perspectives on public participation and digital participatory platforms.

This paper explores the perspectives of different urban actors regarding public participation in the context of the increasing incorporation of digital technologies and urban platforms. The study is based on three workshops with local governance actors, six semi-structured interviews with academics in the fields of public participation and digital technologies and a citizen survey with 260 respondents. The results provide multi-perspective insights into the challenges of participatory processes and are synthesized into three contributions: (i) guidelines for effective public participation, including factors that encourage or discourage citizen engagement; (ii) guidelines for designing participatory platforms, highlighting specific features that promote digital engagement (i.

Nucleated synthetic cells with genetically driven intercompartment communication.

Eukaryotic cells are characterized by multiple chemically distinct compartments, one of the most notable being the nucleus. Within these compartments, there is a continuous exchange of information, chemicals, and signaling molecules, essential for coordinating and regulating cellular activities. One of the main goals of bottom-up synthetic biology is to enhance the complexity of synthetic cells by establishing functional compartmentalization.

Visualizing Actin Packing and the Effects of Actin Attachment on Lipid Membrane Viscosity Using Molecular Rotors.

The actin cytoskeleton and its elaborate interplay with the plasma membrane participate in and control numerous biological processes in eukaryotic cells. Malfunction of actin networks and changes in their dynamics are related to various diseases, from actin myopathies to uncontrolled cell growth and tumorigenesis. Importantly, the biophysical and mechanical properties of actin and its assemblies are deeply intertwined with the biological functions of the cytoskeleton.

Inherited metabolic disorders in Cyprus.

Selective screening for inherited metabolic disorders (IMD) began in Cyprus in 1990. Over the last thirty-three years 7388 patients were investigated for IMD and 200 diagnoses were made (diagnostic yield 2.7%).