PQBP1, an intellectual disability causative gene, affects bone development and growth.

Polyglutamine tract-binding protein 1 (PQBP1), an intellectual disability causative gene, is involved in transcriptional and post-transcriptional regulation of gene expression in animals, and possibly also in plants. In our previous work, reduced brain size, associated with an elongated cell cycle duration in neural stem cells (NSCs), was observed in the NSCs conditional Pqbp1 gene knockout (cKO) mice, which mimic microcephaly patients. However, the physiological significance of PQBP1 in bone metabolism has not been elucidated. Here, we analyzed the bone phenotype of nestin-Cre Pqbp1-cKO mice. Surprisingly, the Pqbp1-cKO mice were significantly shorter than control mice and had a lower bone mass, shown by micro-computed tomography. Furthermore, bone histology showed impaired bone formation in the Pqbp1-cKO mice as well as a chondrocyte deficiency. Real-time PCR analysis showed reduced osteoblast- and chondrocyte-related gene expression in the Pqbp1-cKO mice, while the osteoclast-related gene expression remained unchanged. These results suggest that PQBP1 in bone marrow mesenchymal stem cells may play a crucial role in bone formation and cartilage development.

An orthodontic-orthognathic patient with obstructive sleep apnea treated with Le Fort I osteotomy advancement and alar cinch suture combined with a muco-musculo-periosteal V-Y closure to minimize nose deformity.

In some severe skeletal Class III patients, mandibular setback surgery using sagittal split ramus osteotomy (SSRO) is performed to correct mandibular protrusion. However, in patients diagnosed with obstructive sleep apnea syndrome (OSAS), the risk of OSAS worsening as a result of the SSRO is very high. Maxillary advancement could reduce the degree of mandibular retropositioning and expand the skeletal framework in the pharyngeal region, leading to enlargement of the airway. However, nasal deformity is an undesirable outcome of the procedure. This case report describes a 23-year-old man with a retruded maxilla and OSAS. The maxillary retrusion was treated using Le Fort I osteotomy with an alar cinch suture and a muco-musculo-periosteal V-Y closure (ACVY). After treatment, better occlusal relationships and improvement in OSAS were observed. Thus, an ACVY could minimize nasolabial deformity.

Patterns of adenoid and tonsil growth in Japanese children and adolescents: A longitudinal study.

Lymphoid tissues, such as adenoids (Ad) and tonsils (Tn), are suggested to undergo hypertrophy during childhood and involution in adulthood. Enlargement of Ad and Tn can cause transient obstruction of the respiratory airways, thus inducing obstructive sleep apnoea. To date, the standard Ad and Tn sizes have not been reported, and there are no explicit objective criteria for evaluating their sizes or deducing whether they have enlarged, reduced, or remained constant over time. Our previous cross-sectional study revealed the age-dependent airway occupation ratio of Ad and Tn in Japanese individuals. We conducted a longitudinal observational study of the Ad and Tn sizes in Japanese individuals aged 6-20 years. Ninety individuals were retrospectively enrolled. The average and standard deviation of the sizes was calculated in 5 age-based groups.

Differential changes in the adenoids and tonsils in Japanese children and teenagers: a cross-sectional study.

When adenoids (Ad) and tonsils (Tn) become hypertrophied, craniofacial and general body growth is affected. However, there are no objective explicit criteria for evaluating the size of the Ad and Tn, and their respective growth patterns remain unclear. This study determined the average proportions of the Ad and Tn sizes to the upper airway area at various developmental stages in Japanese individuals. Lateral cephalometric radiographs were obtained from 300 Japanese children and teenagers (150 boys and 150 girls, aged 6-20 years), and the respective proportions of Ad to the nasopharynx (Ad/Np) and Tn to the oropharynx (Tn/Op) in the upper airway were determined. Average and standard deviation (SD) were calculated for each of the 5 age groups: lower primary school, upper primary school, junior high school, senior high school, and young adults. We investigated the correlation between age and growth patterns of Ad and Tn, and determined the average Ad/Np and Tn/Op. There was an age-related decrease in Ad and Tn size, and a significant positive correlation between Ad/Np and Tn/Op values in the upper primary school group. Both Ad/Np and Tn/Op decrease as individuals approach adulthood. However, the growth patterns of the Ad/Np and Tn/Op differ from each other.