Nusinersen demonstrates effectiveness in treating spinal muscular atrophy: findings from a three-year nationwide study in Korea.

Introduction: Nusinersen is the first drug approved for spinal muscular atrophy (SMA) treatment. In this study, we aimed to evaluate the long-term safety and efficacy of nusinersen, assess the therapeutic effects based on the treatment initiation timing and baseline motor function, and explore the perception of functional improvement from either parents or patients, utilizing 3-year nationwide follow-up data in South Korea. Methods: We enrolled patients with SMA who were treated with nusinersen under the National Health Insurance coverage, with complete motor score records available and a minimum treatment duration of 6 months. To evaluate the motor function of patients, the Hammersmith Infant Neurological Examination-2 (HINE-2) was used for type 1 and the Expanded Hammersmith Functional Motor Scale (HFMSE) was used for types 2 and 3 patients. A significant improvement was defined as a HINE-2 score gain ≥5 for patients with type 1 and an HFMSE score ≥ 3 for patients with types 2 and 3 SMA. Effects of treatment timing were assessed. Patients with type 2 were further categorized based on baseline motor scores for outcome analysis. We also analyzed a second dataset from five tertiary hospitals with the information on parents/patients-reported impressions of improvement. Results: The study comprised 137 patients, with 21, 103, and 13 patients representing type 1, 2, and 3 SMA, respectively. At the 3-year follow-up, the analysis encompassed 7 patients with type 1, 12 patients with type 2, and none with type 3. Nearly half of all enrolled patients across SMA types (42.8, 59.2 and 46.2%, respectively) reached the 2-year follow-up for analysis. Patients with type 1 SMA exhibited gradual motor function improvement over 1-, 2-, and 3-year follow-ups (16, 9, and 7 patients, respectively). Patients with type 2 SMA demonstrated improvement over 1-, 2-, and 3-year follow-ups (96, 61 and 12 patients, respectively). Early treatment from symptom onset resulted in better outcomes for patients with type 1 and 2 SMA. In the second dataset, 90.7% of 108 patients reported subjective improvement at the 1-year follow-up. Conclusion: Nusinersen treatment for types 1-3 SMA is safe and effective in long-term follow-up. Early treatment initiation was a significant factor affecting long-term motor outcome.

Concomitant occurrence of Turner syndrome and growth hormone deficiency.

Turner syndrome (TS) is a genetic disorder in phenotypic females that has characteristic physical features and presents as partial or complete absence of the second sex chromosome. Growth hormone deficiency (GHD) is a condition caused by insufficient release of growth hormone from the pituitary gland. The concomitant occurrence of TS and GHD is rare and has not yet been reported in Korea. Here we report 2 cases of TS and GHD. In case 1, GHD was initially diagnosed. Karyotyping was performed because of the presence of the typical phenotype and poor response to growth hormone therapy, which revealed 45,X/45,X+mar. The patient showed increased growth velocity after the growth hormone dose was increased. In case 2, a growth hormone provocation test and chromosomal analysis were performed simultaneously because of decreased growth velocity and the typical TS phenotype, which showed GHD and a mosaic karyotype of 45,X/46,XX. The patient showed spontaneous pubertal development. In female patients with short stature, it is important to perform a throughout physical examination and test for hormonal and chromosomal abnormalities because diagnostic accuracy is important for treatment and prognosis.

Increasing incidence of type 1 diabetes among Korean children and adolescents: analysis of data from a nationwide registry in Korea.

BACKGROUND: The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents has increased worldwide. However, the epidemiology of T1DM among Korean youth has not been reported since 2001. We investigated the incidence of T1DM in Korean children and adolescents from 2012 to 2014 and compared it with data from 1995 to 2000. PATIENTS AND METHODS: Data were obtained from the National Health Insurance Service (NHIS) registry, and age- and sex-specific incidence rates were calculated per 100 000 population. RESULTS: In total, 706 patients (326 boys and 380 girls, aged <15 yr) with T1DM were registered in the NHIS during 2012-2014. The incidence rate per 100 000 population was 3.19 (95% confidence interval [CI] 2.96-3.43). We found incidence rates of 1.68, 3.16, and 4.46 in children 0-4, 5-9, and 10-14 yr, respectively. The T1DM incidence was 2.84 in boys and 3.56 in girls. A higher T1DM incidence was seen during 2012-2014 than from 1995-2000 (incidence rate ratio 2.33; p < 0.001). The incidence rate ratios between 1995-2000 and 2012-2014 were 2.31, 2.20, and 2.27 in children 0-4, 5-9, and 10-14 yr, respectively. The annual increase in T1DM incidence was 5.6% (95% CI 5.0-6.3%) between 1995 and 2014. CONCLUSIONS: We observed a significant increase in the T1DM incidence. This increase was higher in boys than in girls, and was highest in children aged 0-4 yr. Studies are needed to evaluate the long-term epidemiological trend of T1DM incidence.

Change in the height of Korean children and adolescents: analysis from the Korea National Health and Nutrition Survey II and V.

PURPOSE: The mean adult height of Koreans has increased since nationwide anthropological measurements began in 1967. The objective of this study was to evaluate differences in heights of Korean late adolescents and young adults within and between the Second and Fifth Korea National Health and Nutrition Examination Surveys (KNHANES II and V). METHODS: Koreans aged ≤22 years with available measurements of height were enrolled from the KNHANES surveys (KNHANES II: n=3,372 [1,732 males and 1,640 females]; KNHANES V: n=6,190 [3,198 males and 2,992 females]). Differences in the height of KNHANES respondents within and between surveys were evaluated according to age and sex. RESULTS: In KNHANES II, there was no significant difference in height between males aged 17-19 years and those aged 20-22 years (174.3±0.5 cm vs. 174.3±0.6 cm, P=0.995). Females aged 20-22 years were taller than those aged 17-19 years (159.8±0.4 cm vs. 161.0±0.4 cm, P=0.017). Females aged 17-19 years were significantly taller in KNHANES V than in KNHANES II (161.2±0.3 cm vs. 159.8±0.4 cm, P=0.004). Respondents aged 20-22 years were taller in KNHANES V than in KNHANES II, although not significantly so; the difference was 0.3±0.8 cm in males (P=0.721) and 0.5±0.6 cm in females (P=0.386). CONCLUSION: Koreans appear to continue growing even in their late adolescence and early twenties. Consequently, it may be necessary to expand the reference age ranges of the Korean growth chart. Additionally, a longitudinal growth survey is needed to determine growth patterns and secular trend in height among Koreans.

Massive pulmonary hemorrhage in enterovirus 71-infected hand, foot, and mouth disease.

Hand, foot, and mouth disease (HFMD) is an acute, mostly self-limiting infection. Patients usually recover without any sequelae. However, a few cases are life threatening, especially those caused by enterovirus 71 (EV71). A 12-month-old boy was admitted to a primary hospital with high fever and vesicular lesions of the mouth, hands, and feet. After 3 days, he experienced 3 seizure episodes and was referred to our hospital. On admission, he was conscious and his chest radiograph was normal. However, 6 hours later, he suddenly lost consciousness and had developed a massive pulmonary hemorrhage that continued until his death. He experienced several more intermittent seizures, and diffuse infiltration of both lung fields was observed on chest radiography. Intravenous immunoglobulin, dexamethasone, cefotaxime, leukocyte-depleted red blood cells, fresh frozen plasma, inotropics, vitamin K, and endotracheal epinephrine were administered. The patient died 9 hours after intubation, within 3 days from fever onset. EV71 subgenotype C4a was isolated retrospectively from serum and nasopharyngeal swab by real-time reverse transcription-polymerase chain reaction. Here, we report a fatal case of EV71-associated HFMD with sudden-onset massive pulmonary hemorrhage and suspected encephalitis.

The emerging epidemic of hypertension in Asian children and adolescents.

Hypertension has become a serious global public health burden because of its high incidence and concomitant risk of cardiovascular disease. Many studies have verified that risk factors, such as hypertension and obesity which are responsible for cardiovascular disease, start in early childhood. In Asian countries, the prevalence of hypertension in the pediatric age group has become more prevalent than ever before with the increasing obesity epidemic. To tackle the epidemic of cardiovascular disease, a leading cause of death and disability of non-communicable diseases in Asian countries, population-based measures aiming at reducing harmful environmental factors to blood pressure and body weight must be applied to individuals in their early childhood, as early as the fetal stage. This review focused on the prevalence of pediatric hypertension in Asian countries and outlined several considerations for accurate blood pressure (BP) measurement and evaluation, along with an overview of pathophysiology of fetal programming and obesity related with childhood hypertension.

Prevalence of primary immunodeficiency in Korea.

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

Validation study of the Dinamap ProCare 200 upper arm blood pressure monitor in children and adolescents.

PURPOSE: To validate the Dinamap ProCare 200 blood pressure (BP) monitor against a mercury sphygmomanometer in children 7 to 18 years old in accordance with the 2010 International Protocol of European Society of Hypertension (ESH-IP2) and the British Hypertension Society (BHS) protocol. METHODS: Forty-five children were recruited for the study. A validation procedure was performed following the protocol based on the ESH-IP2 and BHS protocols for children and adolescents. Each subject underwent 7 sequential BP measurements alternatively with a mercury sphygmomanometer and the test device by trained nurses. The results were analyzed according to the validation criteria of ESH-IP2. RESULTS: The mean (±SD) difference in the absolute BP values between test device and mercury sphygmomanometer readings was 1.85±1.65 mmHg for systolic BP (SBP) and 4.41±3.53 mmHg for diastolic BP (DBP). These results fulfilled the Association for the Advancement of Medical Instrumentation criterion of a mean±SD below 5±8 mmHg for both SBP and DBP. The percentages of test device-observer mercury sphygmomanometer BP differences within 5, 10, and 15 mmHg were 96%, 100%, and 100% for SBP, and 69%, 92%, and 100% for DBP, respectively, in the part 1 analysis; both SBP and DBP passed the part 1 criteria. In the part 2 analysis, SBP passed the criteria but DBP failed. CONCLUSION: Although the Dinamap ProCare 200 BP monitor failed an adapted ESH-IP2, SBP passed. When comparing BP readings measured by oscillometers and mercury sphygmomanometers, one has to consider the differences between them, particularly in DBP, because DBP can be underestimated.

Anthropometric changes in children and adolescents from 1965 to 2005 in Korea.

The aim of this study was to assess the secular growth changes in Korean children and adolescents during the last four decades. In 2005, 68,790 boys and 62,557 girls were recruited for this study across the nation in 2005. Anthropometric data (weight, height, etc.) were measured. We compared the results of previous nationwide growth studies with this study. The results of this survey indicate that the growth and developmental status of Korean children and adolescents has been changed substantially compared with those in 1965, 1975, 1984, and 1997. The data presented in this study show a distinct secular increase in growth in body height and weight of Korean children and adolescents spanning this period. A nationwide survey every 5 years would be beneficial to establish a reference standard for the growth of children and adolescents according to the socioeconomic, environmental, and nutritional changes.