Mutations in the plectin gene (PLEC1) cause epidermolysis bullosa simplex (EBS), which may associate with muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). The association of EBS with congenital myasthenic syndrome (CMS) is also suspected to result from PLEC1 mutations. We report here a consanguineous patient with EBS and CMS for whom mutational analysis of PLEC1 revealed a homozygous 36...

The objective of this study was to systematically characterize motor units (MUs) of the musculature of the lower face. MU endplate positions and principal muscle fiber orientations relative to facial landmarks were identified. This was done by the analysis of motor unit action potentials (MUAPs) in the surface electromyogram. Thirteen specially trained, healthy subjects performed selective cont...

Bone is a dynamic structure and is known to respond to changes in the load over time, in accordance with Wolff’s law. It states that the bone changes its shape and internal architecture in response to stresses acting on it [1]. Therefore, any structural changes in the spine may lead to bone remodeling due to changes in the optimal stress pattern. The changes in apparent density and thickness of...

BACKGROUND Discectomies are a common surgical treatment for disc herniations in the canine spine. However, the effect of these procedures on intervertebral disc tissue is not fully understood. The objective of this study was to assess degenerative changes of cervical spinal segments undergoing discectomy procedures, in vivo. RESULTS Discectomies led to a 60% drop in disc height and 24% drop i...

The aim of this study was to explore the degree of degeneration of endplate chondrocytes in different tension regions induced by intermittent cyclic mechanical tension (ICMT) in vitro. Rat endplate chondrocytes were harvested and treated with 10% ICMT for 8 h/day with a frequency of 0.5 Hz. A cartilage degeneration model was induced using an FX‑5000T cell strain‑loading system. The experiment w...

We have developed a technique, called synaptic reconstruction, that permits nerve terminals of living vertebrate neuromuscular junctions (NMJs) to be isolated and then manually recombined with vacant endplate sites to form functional synapses. By reconstructing NMJs with various combinations of pre- and postsynaptic partners, or with varying degrees of pre- to postsynaptic alignment, the functi...

OBJECTIVE It remains debatable whether cervical spine fusion cages should be filled with any kind of bone or bone substitute. Cortical and subcortical bone from the anterior and posterior osteophytes of the segment could be used to fill the cage. The purposes of the present study are to evaluate the clinical outcomes and radiological outcomes including bone fusion and subsidence that occurred a...

This note summarizes results from a preliminary stress analysis of several shaped driftchamber endplates using the PC-based finite-element-analysis program ALGOR. We infer from evidence presented below that both the stresses and displacements in thin shaped endplates under uniform wire load scale as 1/thickness. A rough understanding is that the stresses are primarily tension and compression in...