Pneumoparotid is a rare diagnosis to consider when faced with unexplained parotid swelling. It is caused by an excessive increase of intraoral pressure and reflux of air through the Stensen duct and its glandular branches. It is more likely to occur in persons who have regularly raised intraoral pressure, for example glass and balloon blowers and wind instrument players. It can also be self-induced by habitual tic. Herein, we report a rare case of pneumoparotid with initial presentation of painless swelling in left parotid region. It was caused by habitual cheek inflating and improved with conservative management.

Objective: Precocious puberty is the adrenarche that occurs before the age of 8 in girls. Gonadotropin-releasing hormone stimulation test (GnRH stimulation test), which is widely used in diagnosing precocious puberty, is commonly used to evaluate the activity of the hypothalamus-pituitary-gonad axis, but it has the disadvantages of low sensitivity and laborious blood sampling process. On the other hand, pelvic ultrasonography has the advantage of being inexpensive and easy to test. The purpose of this study was to investigate the usefulness of pelvic ultrasonography for the diagnosis of precocious puberty and whether there is a significant relationship between the GnRH stimulation test and ultrasonography findings. Methods: From January 2016 to September 2021, a total of 234 girls with precocious puberty who visited the Soonchunhyang University Seoul Hospital were subjected to pelvic ultrasonography. Results: The size of both ovaries in the group with a peak luteinizing hormone (LH) value of 10 IU/L or higher in the GnRH stimulation test was significantly larger than that of the group with a peak LH value of less than 7 IU/L. A group with a peak LH value of 10 IU/L or higher in the GnRH stimulation test had 0.63 cm and 0.9 cm significantly larger uterus size than that of the other two groups. Conclusion Uterus and ovary sizes have a positive correlation with peak LH values in the GnRH stimulation test. Pelvic ultrasonography is considered to be a useful test for estimating precocious puberty without causing much discomfort to the child.

Tatton-Brown-Rahman syndrome (TBRS) is a relatively new congenital anomaly syndrome manifesting overgrowth and a broad spectrum of intellectual disability. It is caused by pathogenic variants in the DNA methyltransferase 3 alpha (DNMT3A) gene, mainly de novo inheritance. Overgrowth, mild-to-severe intellectual disability, and other clinical features of TBRS may affect the quality of life of patients and their family members. Thus, early diagnosis by genetic testing and management of these symptoms is critical. We report a case of a 17-year-old male patient with hemihypertrophy who suffered back pain since school age, diagnosed with TBRS-identified DNMT3A gene mutation.

No abstract available.
Bone Marrow* ; Necrosis*

Background: The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea.Purpose: This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors. Methods: Ninety pediatric patients diagnosed with moderate to severe positional plagiocephaly received helmet therapy. Severity of moderate to severe positional plagiocephaly was defined as cranial vault asymmetry (CVA) >10 mm or CVA index (CVAI) >6%. Patients were categorized by age, severity, and daily helmet wear. Multiple regression analysis controlled for factors like sex and prematurity. Treatment success was assessed by comparing pre/post-helmet theray CVA and CVAI, considering normalization or decrease to mild plagiocephaly (CVA ≤10 mm or CVAI ≤6%). Results: A total of 90 participants were enrolled (mean age, 5.6±1.6 months; male, 53 [58.9%]). The mean helmet therapy duration was 6.4±2.7 months, while the mean daily wear time was 18.4±2.7 hours. Among the 90 patients, 66 (73.3%) had moderate disease and 24 (26.7%) had severe disease. The mean CVA and CVAI decreased by 6.3±2.7 mm and 4.3%±1.8% after versus before treatment (P<0.001). Treatment was successful in 76 infants (84.4%). The most effective changes in CVA and CVAI were noted in those who began treatment before 9 months of age (6.2±2.5 mm and 5.0%±1.9%, P<0.001), had high compliance (6.2±2.4 mm and 4.9%±1.9%, P<0.001), and had high severity (8.0±2.3 mm and 6.6%±1.7%, P<0.001). Conclusion Starting helmet treatment before 9 months and wearing it over 15 hours daily yielded better outcomes.

Background: The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea.Purpose: This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors. Methods: Ninety pediatric patients diagnosed with moderate to severe positional plagiocephaly received helmet therapy. Severity of moderate to severe positional plagiocephaly was defined as cranial vault asymmetry (CVA) >10 mm or CVA index (CVAI) >6%. Patients were categorized by age, severity, and daily helmet wear. Multiple regression analysis controlled for factors like sex and prematurity. Treatment success was assessed by comparing pre/post-helmet theray CVA and CVAI, considering normalization or decrease to mild plagiocephaly (CVA ≤10 mm or CVAI ≤6%). Results: A total of 90 participants were enrolled (mean age, 5.6±1.6 months; male, 53 [58.9%]). The mean helmet therapy duration was 6.4±2.7 months, while the mean daily wear time was 18.4±2.7 hours. Among the 90 patients, 66 (73.3%) had moderate disease and 24 (26.7%) had severe disease. The mean CVA and CVAI decreased by 6.3±2.7 mm and 4.3%±1.8% after versus before treatment (P<0.001). Treatment was successful in 76 infants (84.4%). The most effective changes in CVA and CVAI were noted in those who began treatment before 9 months of age (6.2±2.5 mm and 5.0%±1.9%, P<0.001), had high compliance (6.2±2.4 mm and 4.9%±1.9%, P<0.001), and had high severity (8.0±2.3 mm and 6.6%±1.7%, P<0.001). Conclusion Starting helmet treatment before 9 months and wearing it over 15 hours daily yielded better outcomes.

Background: The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea.Purpose: This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors. Methods: Ninety pediatric patients diagnosed with moderate to severe positional plagiocephaly received helmet therapy. Severity of moderate to severe positional plagiocephaly was defined as cranial vault asymmetry (CVA) >10 mm or CVA index (CVAI) >6%. Patients were categorized by age, severity, and daily helmet wear. Multiple regression analysis controlled for factors like sex and prematurity. Treatment success was assessed by comparing pre/post-helmet theray CVA and CVAI, considering normalization or decrease to mild plagiocephaly (CVA ≤10 mm or CVAI ≤6%). Results: A total of 90 participants were enrolled (mean age, 5.6±1.6 months; male, 53 [58.9%]). The mean helmet therapy duration was 6.4±2.7 months, while the mean daily wear time was 18.4±2.7 hours. Among the 90 patients, 66 (73.3%) had moderate disease and 24 (26.7%) had severe disease. The mean CVA and CVAI decreased by 6.3±2.7 mm and 4.3%±1.8% after versus before treatment (P<0.001). Treatment was successful in 76 infants (84.4%). The most effective changes in CVA and CVAI were noted in those who began treatment before 9 months of age (6.2±2.5 mm and 5.0%±1.9%, P<0.001), had high compliance (6.2±2.4 mm and 4.9%±1.9%, P<0.001), and had high severity (8.0±2.3 mm and 6.6%±1.7%, P<0.001). Conclusion Starting helmet treatment before 9 months and wearing it over 15 hours daily yielded better outcomes.

Background: The use of helmet treatment for positional plagiocephaly has increased recently; however, its effect is unknown in Korea.Purpose: This study aimed to investigate the effectiveness of helmet therapy and identify its influencing factors. Methods: Ninety pediatric patients diagnosed with moderate to severe positional plagiocephaly received helmet therapy. Severity of moderate to severe positional plagiocephaly was defined as cranial vault asymmetry (CVA) >10 mm or CVA index (CVAI) >6%. Patients were categorized by age, severity, and daily helmet wear. Multiple regression analysis controlled for factors like sex and prematurity. Treatment success was assessed by comparing pre/post-helmet theray CVA and CVAI, considering normalization or decrease to mild plagiocephaly (CVA ≤10 mm or CVAI ≤6%). Results: A total of 90 participants were enrolled (mean age, 5.6±1.6 months; male, 53 [58.9%]). The mean helmet therapy duration was 6.4±2.7 months, while the mean daily wear time was 18.4±2.7 hours. Among the 90 patients, 66 (73.3%) had moderate disease and 24 (26.7%) had severe disease. The mean CVA and CVAI decreased by 6.3±2.7 mm and 4.3%±1.8% after versus before treatment (P<0.001). Treatment was successful in 76 infants (84.4%). The most effective changes in CVA and CVAI were noted in those who began treatment before 9 months of age (6.2±2.5 mm and 5.0%±1.9%, P<0.001), had high compliance (6.2±2.4 mm and 4.9%±1.9%, P<0.001), and had high severity (8.0±2.3 mm and 6.6%±1.7%, P<0.001). Conclusion Starting helmet treatment before 9 months and wearing it over 15 hours daily yielded better outcomes.

BACKGROUND: Hypobetalipoproteinemia (HBL) is characterized by plasma concentration of lowdensity lipoprotein cholesterol below the fifth percentile in a healthy population. It has been suggested that HBL may be associated with apolipoprotein E (apoE) and apoB polymorphisms, such as apoB 8344 and apoB EcoRI. METHODS: Patients with HBL (n=51) and age-and- sex-matched healthy controls (n=136) were compared for apoE genotyping, apoB 8344 polymorphism and apoB EcoRI polymorphism. ApoE genotyping and apoB EcoRI polymorphism were determined by polymerase chain reaction (PCR) restriction fragment-length polymorphism. ApoB 8344 polymorphism was determined by the PCR-amplification refractory mutation system. We also Search truncated apoB with ECL western blotting in 23 HBL subjects. RESULTS: We could not find any truncated form of apoB. We found significant elevation of the apoE epsilon2 allele frequency of 0.147 in HBL cases compared with 0.063 in healthy controls (P=0.018). The ApoB 8344 polymorphism showed no significant difference between the HBL and the normal control groups. There were no significant apoB EcoRI allele frequency differences between the HBL and the normal groups. There were no significant apoB EcoRI allele frequency differences between the HBL and the normal groups. CONCLUSIONS: We could not find any relationship between HBL either with apoB 8344 or apoB EcoRI polymorphisms, but apoE epsilon2 allele seemed to be associated with HBL in Koreans.
Alleles ; Apolipoprotein E2 ; Apolipoproteins B ; Apolipoproteins E ; Apolipoproteins* ; Blotting, Western ; Cholesterol ; Gene Frequency ; Humans ; Hypobetalipoproteinemias ; Lipoproteins ; Plasma ; Polymerase Chain Reaction

No abstract available.