MATCH provides an overview of segmentation methodologies for IAs and highlights the variability of surface reconstruction. Further, the study emphasizes the need for careful processing of initial segmentation results for a realistic assessment of clinically relevant morphological parameters.

No abstract

We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes.

Skeletal muscle stem cells, called satellite cells and defined by the transcription factor PAX7, are responsible for postnatal muscle growth, homeostasis and regeneration. Attempts to utilize the regenerative potential of muscle stem cells for therapeutic purposes so far failed. We previously established the existence of human PAX7-positive cell colonies with high regenerative potential. We now identified PAX7-negative human muscle-derived cell colonies also positive for the myogenic markers desmin and MYF5. These include cells from a patient with a homozygous PAX7 c.86-1G > A mutation (PAX7null). Single cell and bulk transcriptome analysis show high intra- and inter-donor heterogeneity and reveal the endothelial cell marker CLEC14A to be highly expressed in PAX7null cells. All PAX7-negative cell populations, including PAX7null, form myofibers after transplantation into mice, and regenerate muscle after reinjury. Transplanted PAX7neg cells repopulate the satellite cell niche where they re-express PAX7, or, strikingly, CLEC14A. In conclusion, transplanted human cells do not depend on PAX7 for muscle regeneration.

Haemodynamics and morphology play an important role in the genesis, growth and rupture of cerebral aneurysms. The goal of this study was to generate and analyse statistical wall shear stress (WSS) distributions and shapes in middle cerebral artery (MCA) saccular aneurysms. Unsteady flow was simulated in seven ruptured and 15 unruptured MCA aneurysms. In order to compare these results, all geometries must be brought in a uniform coordinate system. For this, aneurysms with corresponding WSS data were transformed into a uniform spherical shape; then, all geometries were uniformly aligned in threedimensional space. Subsequently, we compared statistical WSS maps and surfaces of ruptured and unruptured aneurysms. No significant ( p . 0.05) differences exist between ruptured and unruptured aneurysms regarding radius and mean WSS. In unruptured aneurysms, statistical WSS map relates regions with high (greater than 3 Pa) WSS to the neck region. In ruptured aneurysms, additional areas with high WSS contiguous to regions of low (less than 1 Pa) WSS are found in the dome region. In ruptured aneurysms, we found significantly lower WSS. The averaged aneurysm surface of unruptured aneurysms is round shaped, whereas the averaged surface of ruptured cases is multi-lobular. Our results confirm the hypothesis of low WSS and irregular shape as the essential rupture risk parameters.