Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population.

OBJECTIVE: This study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans. METHODS: In this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K). In addition, we screened the 3 most common pathogenic NOTCH3 variants (p.Arg75Pro, p.Arg544Cys, and p.Arg578Cys) for 1,000 individuals on Jeju Island, where the largest number of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported in Korea. RESULTS: The pathogenic NOTCH3 variant (p.Arg544Cys) was found in 0.12% of sequences in the KRGDB, and 3 pathogenic variants (p.Arg75Pro, p.Arg182Cys, and p.Arg544Cys) were present in 0.44% of the Korea1K database. Of the 1,000 individuals on Jeju Island, we found 2 cysteine-altering NOTCH3 variants (p.Arg544Cys variant in 9 and p.Arg578Cys in 1 individual) in 1.00% of the participants (95% confidence interval: 0.48%-1.83%). The presence of cysteine-altering NOTCH3 variants was significantly associated with a history of stroke (p < 0.001). DISCUSSION: Pathogenic NOTCH3 variants are frequently found in the general Korean population. Such a high prevalence of pathogenic variants could threaten the brain health of tens of thousands to hundreds of thousands of older adults in Korea.

Craniomaxillofacial Changes Using High-Pull J-Hook Headgear and Mini-Implant Anchorage in Adolescents: A Structural Superimposition Method.

OBJECTIVE: The aim of this study was to compare the craniomaxillofacial changes when using high-pull J-hook headgear (HPJH) and mini-implants (MIs) as maxillary anchorage in adolescents. STUDY DESIGN: 40 female adolescents with dentoalvolar protrusion were divided into 2 groups; the HPJH group (n=20) and the MI group (n=20). Lateral cephalograms taken before treatment (T0) and after anterior tooth retraction (T1) were superimposed on the stable structures and then craniomaxillofacial changes were evaluated. RESULTS: The cranial base angle, SNB, and facial angle decreased in the HPJH group but increased in the MI group. ANB decreased more in the MI group than in the HPJH group. Mandibular plane angle increased in the HPJH group but decreased in the MI group. Facial height index increased in the MI group while it showed no change in the HPJH group. Mandibular true rotation occurred clockwise in the HPJH group and counterclockwise in the MI group. Maxillary central incisors were intruded and retracted more in the MI group than in the HPJH group. Maxillary first molars were extruded in the HPJH group and were intruded in the MI group. Maxillary first molars were protracted more in the HPJH group than in the MI group. Mandibular central incisors were retracted more in the HPJH group than the MI group. Mandibular first molars were extruded more in the MI group than in the HPJH group. CONCLUSION: More favorable craniomaxillofacial changes occurred in the MI group than in the HPJH group.