Intrafamilial variability of XYLT2-related spondyloocular syndrome

Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have recently been identified with the use of whole exome sequencing. We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. A novel XYLT2 missense mutation was detected in a region evolutionary conserved across the species. This report along with the previous reports demonstrates that variable expressivity may be possible even within the same family. These two siblings with a novel mutation further expand the clinical and mutational spectrum of spondyloocular syndrome.     

Electron microscopy of cells displaced into the dentinal tubules due to dry cavity preparation.

Using dogs' teeth, cells displaced into the dentinal tubules due to dry cavity preparation were observed using electron microscopy. In order to obtain adequate fixation a new local-perfusion method was employed. Most of the cells which moved into the dentinal tubules were odontoblast nuclei and partly neutrophilic leukocytes and erythrocytes. Not only odontoblast nuclei but also cytoplasmic organelles, such as mitochondria, rough endoplasmic reticulum, free ribosomes, and lysosomes were displaced into the tubules. The weavings of dentinal fibers in the tubules were observed in some areas.     

Effects of the penetration of a root canal filling material into the mandibular canal. 1. Tissue reaction to the material

The root canal filling paste Vitapex (Neo Dental Chemical Products Co., Tokyo), made of calcium hydroxide and iodoform with the addition of silicone oil, was experimentally introduced into the mandibular canals of 29 dogs. Tissue reactions to the paste were examined by radiography, histopathology, and electron microscopy. These examinations revealed that the paste was phagocytosed by macrophages and, in general, was gradually resorbed over time. The paste was also found to cause heterotopic calcification and/or ossification within the area of original penetration.     

Histological suture changes following retraction of the maxillary anterior bone segment after corticotomy

Abstract By cephalometric and dental cast analyses, the effects of corticotomy in combination with 45–50 days retraction of the maxillary anterior segment were evaluated in five female Japanese monkeys (Macaca fuscata). In addition, microscopic changes of the related sutures were examined. According to the analyses of the dental casts, the retraction of the maxillary anterior segment m the experimental group was increased when compared with that of the control group.‘There was no change in Occlusal molar relationship. The cephalometric analysis revealed that the “Point A” and “Metal Implant” on the mid-sagittal site between the upper central incisors in the experimental group showed more pronounced retraction than that in two untreated control animals. These results were histologically evaluated by changes of the suture structure: irregularity of functional arrangement of component cells and fibers, an increase in number of cells, resorption and formation of bone, and an enlargement of the suture width. Resorption of tooth roots and alveolar bone, and irregularity of the periodontal ligament were observed. In general, these histological changes appeared more extensive in the control specimens compared with the experimental Specimens. The osseous histological changes were mainly observed in the compact bone area, while in the spongy bone area of both control and experimental specimens only minimal changes occurred. These results demonstrated the efficacy of combining a corticotomy procedure with retraction of the maxillary anterior bone segment by an orthodontic force.