ABSTRACT
PURPOSE: This pilot study assessed changes in the growth plate and growth rates in children during a 6-month period. METHODS: The study included 31 healthy children (17 boys, 14 girls) under evaluation for growth retardation. Height, weight, bone age, insulin like growth factor-1 (IGF-1), and insulin like growth factor binding protein 3 (IGF-BP3) were measured at baseline and after 6 months. In addition, the diameter, thickness, and volume of the femoral and tibial growth plates were measured using magnetic resonance imaging. RESULTS: The mean bone age in boys and girls was 11.7 and 10.7 years, respectively. In boys, height (z score) (−0.2 vs. 0.0), weight (z score) (0.8 vs. 1.1), body mass index (BMI) (z score) (1.27 vs. 1.5), IGF-1 (ng/mL) (343.6 vs. 501.8), and IGF-BP3 (ng/mL) (5,088.5 vs. 5,620.0) were significantly higher after 6 months. In girls, height (z score) (−1.0 vs. −0.7), weight (z score) (−0.5 vs. 0.1), BMI (z score) (−0.02 vs. 0.3), IGF-1 (ng/mL) (329.3 vs. 524.6), and IGF-BP3 (ng/mL) (4,644.4 vs. 5,593.6) were also significantly higher after 6 months. In both sexes, the mean diameter and volume of the femoral and tibial growth plates were significantly increased 6 months later. CONCLUSION: No significant correlation was found between changes in the growth plate and clinical parameters in children with growth retardation in this study, other than correlations of change in femoral diameter with weight and BMI. A larger, long-term study is needed to precisely evaluate the correlation between change in the growth plate and growth.
Subject(s)
Child , Female , Humans , Body Mass Index , Carrier Proteins , Growth Plate , Insulin , Insulin-Like Growth Factor I , Magnetic Resonance Imaging , Pilot ProjectsABSTRACT
PURPOSE: Obstructive sleep apnea syndrome (OSAS) in young children is frequently caused by adenoid and/or tonsillar hypertrophy. Adenoidectomy is the first operative method for childhood chronic rhinosinusitis (CRS). We investigated factors associated with recurrent rhinosinusitis in preschool aged children with OSAS to determine the association of 2 common diseases. METHODS: One hundred forty-six children aged 2–5 years who were diagnosed as having OSAS after polysomnography between December 2003 and April 2016 were enrolled in this study. Children were divided into 2 groups with and without CRS. The 2 groups were compared in the severity of OSAS and allergy diseases and were evaluated for recurrent rhinosinusitis during the follow-up period, 1 year after diagnosis. RESULTS: Among 108 patients with OSAS who were followed up, 81 patients (75%) were diagnosed with CRS. There were no significant difference clinical and allergic characteristics between groups with and without CRS. However, bronchial asthma and otitis media was significantly more prevalent in patients with CRS than in those without (P=0.045 and P=0.000, respectively). Bronchial asthma and adenotonsillectomy was significantly associated with recurrent rhinosinusitis (P=0.005 and P=0.04, respectively) during the 1-year follow-up. CONCLUSION: Approximately 75% of preschool children with OSAS have suffered from CRS. Bronchial asthma is associated with CRS among OSAS children. Recurrent rhinosinusitis is decreased after adenotonsillectomy, and bronchial asthma is an associated factor for recurrent rhinosinusitis after a follow-up. This close relationship childhood OSAS and recurrent rhinosinusitis/bronchial asthma needs further studies to investigate their role in the association.
Subject(s)
Child , Child, Preschool , Humans , Adenoidectomy , Adenoids , Asthma , Diagnosis , Follow-Up Studies , Hypersensitivity , Hypertrophy , Methods , Otitis Media , Polysomnography , Rhinitis , Sinusitis , Sleep Apnea, ObstructiveABSTRACT
PURPOSE: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We reported the first molecularly confirmed Korean patient of XP by targeted exome sequencing. The prevalence of XP included all subtype and carrier frequency of XP-A the using public data were estimated for the first time in South Korea. MATERIALS AND METHODS: We described a 4-year-old Korean girl with clinical diagnosis of XP. We performed targeted exome sequencing in the patient for genetic confirmation considering disease genetic heterogeneity and for differential diagnosis. We verified a carrier frequency of c.390-1G>C in XPA gene known as mutational hot spot using Korean Reference Genome Data Base. We estimated the period prevalence of all subtypes of XP based on claims data of the Health Insurance Review and Assessment Service in South Korea. RESULTS: We identified homozygous splicing mutation of XPA (c.390-1G>C) in the patient. The carrier frequency of risk for XPA (c.390-1G>C) was relatively high 1.608 e-03 (allele count 2/1244). The prevalence of XP in South Korea was 0.3 per million people. CONCLUSION: We expect that c.390-1G>C is hot spot for the mutation of XPA and possible founder variant in South Korea. However, the prevalence in South Korea was extremely low compared with Western countries and Japan.