Does rapid maxillary expansion improve nasal airway obstruction? A computer fluid dynamics study in patients with nasal mucosa hypertrophy and obstructive adenoids.

INTRODUCTION: Rapid maxillary expansion (RME) expands the maxillary dentition laterally and improves nasal airway obstruction. However, the incidence of nasal airway obstruction improvement after RME is approximately 60%. This study aimed to clarify the beneficial effects of RME on nasal airway obstruction in specific pathologic nasal airway diseases (nasal mucosa hypertrophy and obstructive adenoids) using computer fluid dynamics. METHODS: Sixty subjects (21 boys; mean age 9.1 years) were divided into 3 groups according to their nasal airway condition (control, nasal mucosa hypertrophy, and obstructive adenoids), and those requiring RME had cone-beam computed tomography images taken before and after RME. These data were used to evaluate the nasal airway ventilation condition (pressure) using computer fluid dynamics and measure the cross-sectional area of the nasal airway. RESULTS: The cross-sectional area of the nasal airway significantly increased after RME in all 3 groups. The pressures in the control and nasal mucosa groups significantly reduced after RME but did not change significantly in the adenoid group. The incidence of improvement in nasal airway obstruction in the control, nasal mucosa, and adenoid groups was 90.0%, 31.6%, and 23.1%, respectively. CONCLUSIONS: The incidence of improvement in nasal airway obstruction after RME depends on the nasal airway condition (nasal mucosa hypertrophy and obstructive adenoids). In patients with nonpathologic nasal airway conditions, the obstruction may be sufficiently improved with RME. Furthermore, to some extent, RME may be effective in treating nasal mucosa hypertrophy. However, because of obstructive adenoids, RME was ineffective in patients with nasal airway obstruction.

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Coffin-Siris syndrome (CSS) is a congenital disorder that is characterized by an absent/hypoplastic fifth distal phalanx, psychomotor developmental delay, and coarse facial features. One of the causative genes, ARID1B (AT-rich interactive domain-containing protein 1B), encodes components of the BAF chromatin remodeling complexes. Here, we report a case of a 3-year 8-month-old male with a novel nonsense variant (NM_001374820.1:c.4282C > T, p.(Gln1428*)) in the ARID1B gene, which was identified with whole-exome sequencing. He showed clinical symptoms of cleft soft palate, distinctive facial features (flat nasal bridge, thick eyebrows, and long eyelashes), right cryptorchidism, and hypertrichosis that partially overlapped with CSS. One of the most characteristic features of CSS is absent/hypoplastic fifth distal phalanx. He showed no obvious clinical finding in the lengths of his fingers or in the formation of his fingernails. However, radiographic analyses of the metacarpophalangeal bones revealed shortening of all the distal phalanges and fifth middle phalanges, suggesting brachydactyly. We performed mRNA analyses and revealed that both nonsense-mediated decay and nonsense-associated altered splicing were simultaneously caused by the c.4282C > T nonsense variant. The proband's clinical manifestations fit the previously reported criteria of disease for CSS or intellectual disability with ARID1B variant. Altogether, we suggest that c.4282C > T is a pathogenic variant that causes this clinical phenotype.

Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.

Mucopolysaccharidoses (MPS) are rare lysosomal storage disorders (LSD) characterized by the excessive accumulation of glycosaminoglycans (GAG). Conventional MPS, caused by inborn deficiencies of lysosomal enzymes involved in GAG degradation, display various multisystemic symptoms-including progressive neurological complications, ophthalmological disorders, hearing loss, gastrointestinal and hepatobiliary issues, cardiorespiratory problems, bone and joint abnormalities, dwarfism, and coarse facial features. Mucopolysaccharidosis-Plus Syndrome (MPSPS), an autosomal recessive disease caused by a mutation in the endo-lysosomal tethering protein VPS33A, shows additional renal and hematopoietic abnormalities ("Plus symptoms") uncommon in conventional MPS. Here, we analyze data from biochemical, histological, and physical examinations-particularly of blood counts and kidney function-to further characterize the clinical phenotype of MPSPS. A series of blood tests indicate hematopoietic symptoms including progressive anemia and thrombocytopenia, which correlate with histological observations of hypoplastic bone marrow. High urinary excretion of protein (caused by impairments in renal filtration), hypoalbuminemia, and elevated levels of creatinine, cholesterol, and uric acid indicate renal dysfunction. Histological analyses of MPSPS kidneys similarly suggest the extensive destruction of glomerular structures by foamy podocytes. Height and weight did not significantly deviate from the average, but in some cases, growth began to decline at around six months or one year of age.