Korean Journal of Pediatrics最新文献_第9页

Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1. 小儿1型肌强直性营养不良患者的基因型-表型相关性。

Korean Journal of Pediatrics Pub Date : 2019-02-01 Epub Date: 2018-09-23 DOI: 10.3345/kjp.2018.06919

Hyeong Jung Kim, Ji-Hoon Na, Young-Mock Lee

{"title":"Genotype-phenotype correlations in pediatric patients with myotonic dystrophy type 1.","authors":"Hyeong Jung Kim, Ji-Hoon Na, Young-Mock Lee","doi":"10.3345/kjp.2018.06919","DOIUrl":"https://doi.org/10.3345/kjp.2018.06919","url":null,"abstract":"Purpose: Myotonic dystrophy, also known as dystrophia myotonica (DM), is an autosomal dominant disorder with 2 genetically distinct forms. DM type 1 (DM1) is the more common form and is caused by abnormal expansion of cytosine/thymine/guanine (CTG) repeats in the DM protein kinase (DMPK ) gene. Our study aimed to determine whether the age of onset is correlated with CTG repeat length in a population of pediatric patients with DM1.Methods: We retrospectively identified 30 pediatric patients with DM1 that underwent DMPK testing, of which the clinical data of 17 was sufficient. The cohort was divided into 2 subgroups based on the clinical phenotype (congenital-onset vs. late-onset) and number of CTG repeats (<1,000 vs. ≥1,000).Results: We found no significant difference between the age of onset and CTG repeat length in our pediatric patient population. Based on clinical subgrouping, we found that the congenital-onset subgroup was statistically different with respect to several variables, including prematurity, rate of admission to neonatal intensive care unit, need for respiratory support at birth, hypotonia, dysphagia, ventilator dependence, and functional status on last visit, compared to the late-onset subgroup. Based on genetic subgrouping, we found a single variable (poor feeding in neonate) that was significantly different in the large CTG subgroup than that in the small CTG subgroup.Conclusion: Clinical variables exhibiting statistically significant differences between the subgroups should be focused on prognosis and designing tailored management approaches for the patients; our findings will contribute to achieve this important goal for treating patients with DM1.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 2","pages":"55-61"},"PeriodicalIF":0.0,"publicationDate":"2019-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/28/cb/kjp-2018-06919.PMC6382962.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36561683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Nonalcoholic fatty liver disease in obese and nonobese pediatric patients. 肥胖和非肥胖儿童患者的非酒精性脂肪性肝病

Korean Journal of Pediatrics Pub Date : 2019-01-01 Epub Date: 2018-09-17 DOI: 10.3345/kjp.2018.06786

Eun Jeong Kim, Hyun Jin Kim

{"title":"Nonalcoholic fatty liver disease in obese and nonobese pediatric patients.","authors":"Eun Jeong Kim, Hyun Jin Kim","doi":"10.3345/kjp.2018.06786","DOIUrl":"https://doi.org/10.3345/kjp.2018.06786","url":null,"abstract":"Purpose: Obesity is risk factor for nonalcoholic fatty liver disease (NAFLD). However, nonobese patients are also increasingly susceptible to NAFLD. The aim of this study was to compare the clinical characteristics of obese and nonobese pediatric patients with NAFLD.Methods: We retrospectively studied 68 patients who were diagnosed with NAFLD between January 2010 and October 2016 at 10-18 years of age. Body mass index ≥95th percentile for age and sex was defined as obesity. Abdominal ultrasonography and laboratory, anthropometrics measurements were evaluated.Results: Among the 68, 26 (38.2%) were nonobese patients. The ratio of male to female was 5.8:1, and the median age at diagnosis was 13 years (range, 10-17 years). Significant higher triglyceride (223.0 mg/dL vs. 145.9 mg/dL, P=0.047) and total cholesterol levels (211.6 mg/dL vs. 173.2 mg/dL, P=0.011) were shown in nonobese than obese patients. High-density lipoprotein cholesterol level <40 mg/dL (hazard ratio [HR], 6.5; 95% confidence interval [CI], 2.13-7.10; P=0.048), total cholesterol level >200mg/dL (HR, 5.6; 95% CI, 1.23-15.31; P=0.038) and abdominal obesity (HR, 2.53; 95% CI, 1.22-4.68; P=0.013) were significant risk factors for NAFLD in nonobese patients.Conclusion: Nonobese patients present a substantial proportion of pediatric NAFLD cases. Significant abnormal lipid concentrations were found in nonobese and abdominal obesity was important risk factor for nonobese NAFLD.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 1","pages":"30-35"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f3/47/kjp-2018-06786.PMC6351803.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36561600","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6

Dorsal midline cutaneous stigmata associated with occult spinal dysraphism in pediatric patients. 小儿患者背部中线皮肤红斑与隐匿性脊柱发育异常相关。

Korean Journal of Pediatrics Pub Date : 2019-01-01 Epub Date: 2018-10-01 DOI: 10.3345/kjp.2018.06744

Hyun Jung Sung, Hyun-Seung Lee

{"title":"Dorsal midline cutaneous stigmata associated with occult spinal dysraphism in pediatric patients.","authors":"Hyun Jung Sung, Hyun-Seung Lee","doi":"10.3345/kjp.2018.06744","DOIUrl":"https://doi.org/10.3345/kjp.2018.06744","url":null,"abstract":"Purpose: To investigate the prevalence of occult spinal dysraphism (OSD) and subsequent neurosurgery in pediatric patients with isolated or combined dorsal midline cutaneous stigmata with or without other congenital malformations.Methods: We carried out a retrospective review of patients who underwent sonography or magnetic resonance imaging (MRI) for OSD because of suspicion of dorsal midline cutaneous stigmata (presumed to be a marker for OSD) between January 2012 and June 2017. Information about patient characteristics, physical examination findings, spinal ultrasound and MRI results, neurosurgical notes, and accompanying congenital anomalies was collected.Results: Totally 250 patients (249 ultrasound and one MRI screening) were enrolled for analysis. Eleven patients underwent secondary MRI examinations. The prevalence of OSD confirmed by an MRI was 2.4% (6 patients including one MRI screening). Five patients (2%) had tethered cord and underwent prophylactic neurosurgery, 3 of whom had a sacrococcygeal dimple and a fibrofatty mass. Prevalence of tethered cord increased as markers associated with a sacrococcygeal dimple increased (0.5% of the isolated marker group, 8.1% of the 2-marker group, and 50% of the 3-marker group). Incidence of OSD with surgical detethering in 17 other congenital anomaly patients was 11.8%, which was higher than the 1.3% in 233 patients without other congenital anomalies.Conclusion: Our results suggest that the presence of dorsal midline cutaneous stigmata, particularly fibrofatty masses, along with a sacrococcygeal dimple is associated with OSD or cord tethering requiring surgery. OSD should be suspected in patients with concurrent occurrence of other congenital anomalies.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 2","pages":"68-74"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/07/3c/kjp-2018-06744.PMC6382965.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36561681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 10

Clinical features and prognostic factors of early-onset sepsis: a 7.5-year experience in one neonatal intensive care unit. 早发性脓毒症的临床特征和预后因素:一个新生儿重症监护室7.5年的经验

Korean Journal of Pediatrics Pub Date : 2019-01-01 Epub Date: 2018-09-27 DOI: 10.3345/kjp.2018.06807

Se Jin Kim, Ga Eun Kim, Jae Hyun Park, Sang Lak Lee, Chun Soo Kim

{"title":"Clinical features and prognostic factors of early-onset sepsis: a 7.5-year experience in one neonatal intensive care unit.","authors":"Se Jin Kim, Ga Eun Kim, Jae Hyun Park, Sang Lak Lee, Chun Soo Kim","doi":"10.3345/kjp.2018.06807","DOIUrl":"https://doi.org/10.3345/kjp.2018.06807","url":null,"abstract":"Purpose: In this study, we investigated the clinical features and prognostic factors of early-onset sepsis (EOS) in neonatal intensive care unit (NICU) patients.Methods: A retrospective analysis was conducted on medical records from January 2010 to June 2017 (7.5 years) of a university hospital NICU.Results: There were 45 cases of EOS (1.2%) in 3,862 infants. The most common pathogen responsible for EOS was group B Streptococcus (GBS), implicated in 10 cases (22.2%), followed by Escherichia coli, implicated in 9 cases (20%). The frequency of gram-positive sepsis was higher in term than in preterm infants, whereas the rate of gram-negative infection was higher in preterm than in term infants (P<0.05). The overall mortality was 37.8% (17 of 45), and 47% of deaths occurred within the first 3 days of infection. There were significant differences in terms of gestational age (26.8 weeks vs. 35.1 weeks) and birth weight (957 g vs. 2,520 g) between the death and survival groups. After adjustments based on the difference in gestational age and birth weight between the 2 groups, gram-negative pathogens (odds ratio [OR], 42; 95% confidence interval [CI], 1.4-1,281.8) and some clinical findings, such as neutropenia (OR, 46; 95% CI, 1.3-1,628.7) and decreased activity (OR, 34; 95% CI, 1.8-633.4), were found to be associated with fatality.Conclusion: The common pathogens found to be responsible for EOS in NICU patients are GBS and E. coli. Gram-negative bacterial infections, decreased activity in the early phase of infection, and neutropenia were associated with poor outcomes.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 1","pages":"36-41"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3345/kjp.2018.06807","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36561682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 8

Clinical practice guideline for the diagnosis and treatment of pediatric obesity: recommendations from the Committee on Pediatric Obesity of the Korean Society of Pediatric Gastroenterology Hepatology and Nutrition. 诊断和治疗儿童肥胖的临床实践指南:韩国儿科胃肠病学肝病与营养学会儿童肥胖委员会的建议。

Korean Journal of Pediatrics Pub Date : 2019-01-01 Epub Date: 2018-12-27 DOI: 10.3345/kjp.2018.07360

Dae Yong Yi, Soon Chul Kim, Ji Hyuk Lee, Eun Hye Lee, Jae Young Kim, Yong Joo Kim, Ki Soo Kang, Jeana Hong, Jung Ok Shim, Yoon Lee, Ben Kang, Yeoun Joo Lee, Mi Jin Kim, Jin Soo Moon, Hong Koh, JeongAe You, Young-Sook Kwak, Hyunjung Lim, Hye Ran Yang

{"title":"Clinical practice guideline for the diagnosis and treatment of pediatric obesity: recommendations from the Committee on Pediatric Obesity of the Korean Society of Pediatric Gastroenterology Hepatology and Nutrition.","authors":"Dae Yong Yi, Soon Chul Kim, Ji Hyuk Lee, Eun Hye Lee, Jae Young Kim, Yong Joo Kim, Ki Soo Kang, Jeana Hong, Jung Ok Shim, Yoon Lee, Ben Kang, Yeoun Joo Lee, Mi Jin Kim, Jin Soo Moon, Hong Koh, JeongAe You, Young-Sook Kwak, Hyunjung Lim, Hye Ran Yang","doi":"10.3345/kjp.2018.07360","DOIUrl":"https://doi.org/10.3345/kjp.2018.07360","url":null,"abstract":"The Committee on Pediatric Obesity of the Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition newly developed the first Korean Guideline on the Diagnosis and Treatment of Obesity in Children and Adolescents to deliver an evidence-based systematic approach to childhood obesity in South Korea. The following areas were systematically reviewed, especially on the basis of all available references published in South Korea and worldwide, and new guidelines were established in each area with the strength of recommendations based on the levels of evidence: (1) definition and diagnosis of overweight and obesity in children and adolescents; (2) principles of treatment of pediatric obesity; (3) behavioral interventions for children and adolescents with obesity, including diet, exercise, lifestyle, and mental health; (4) pharmacotherapy; and (5) bariatric surgery.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"62 1","pages":"3-21"},"PeriodicalIF":0.0,"publicationDate":"2019-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3345/kjp.2018.07360","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36817293","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 24

What should we do to prevent and manage obesity in children and adolescents? 我们应该做些什么来预防和管理儿童和青少年肥胖?

Korean Journal of Pediatrics Pub Date : 2019-01-01 Epub Date: 2019-01-11 DOI: 10.3345/kjp.2018.07374

Hye Ran Yang

引用次数: 2

Particulate matter and childhood allergic diseases. 颗粒物与儿童过敏性疾病。

Korean Journal of Pediatrics Pub Date : 2019-01-01 Epub Date: 2018-11-07 DOI: 10.3345/kjp.2018.07045

Song-I Yang

引用次数: 15

The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing. 通过靶向外显子组测序诊断出具有新型SRCAP突变的浮港综合征的第一例韩国病例。

Korean Journal of Pediatrics Pub Date : 2018-12-01 Epub Date: 2018-09-16 DOI: 10.3345/kjp.2018.06289

Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang

{"title":"The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing.","authors":"Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang","doi":"10.3345/kjp.2018.06289","DOIUrl":"https://doi.org/10.3345/kjp.2018.06289","url":null,"abstract":"Floating-Harbor syndrome is a rare autosomal dominant genetic disorder associated with SRCAP mutation. To date, approximately 50 cases of Floating-Harbor syndrome have been reported, but none have been reported in Korea yet. Floating-Harbor syndrome is characterized by delayed bony maturation, unique facial features, and language impairment. Here, we present a 6-year-old boy with a triangular face, deep-set protruding eyes, low-set ears, wide nose with narrow nasal bridge, short philtrum, long thin lips, clinodactyly, and developmental delay that was transferred to our pediatric clinic for genetic evaluation. He showed progressive delay in the area of language and cognition-adaption as he grew. He had previously undergone chromosomal analysis at another hospital due to his language delay, but his karyotype was normal. We performed targeted exome sequencing, considering several syndromes with similar phenotypes. Library preparation was performed with the TruSight One sequencing panel, which enriches the sample for about 4,800 genes of clinical relevance. Massively parallel sequencing was conducted with NextSeq. An identified variant was confirmed by Sanger sequencing of the patient and his parents. Finally, the patient was confirmed as the first Korean case of Floating-Harbor syndrome with a novel SRCAP (Snf2 related CREBBP activator protein) mutation (c.7732dupT, p.Ser2578Phefs*6), resulting in early termination of the protein; it was not found in either of his healthy parents or a control population. To our knowledge, this is the first study to describe a boy with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing in Korea.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"61 12","pages":"403-406"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.3345/kjp.2018.06289","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36561605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 4

The adiposity rebound in the 21st century children: meaning for what? 21世纪儿童肥胖反弹:意味着什么?

Korean Journal of Pediatrics Pub Date : 2018-12-01 Epub Date: 2018-12-06 DOI: 10.3345/kjp.2018.07227

Min Jae Kang

引用次数: 31

The improvement of right ventricular function after adenotonsillectomy in children with obstructive sleep apnea. 阻塞性睡眠呼吸暂停患儿腺扁桃体切除术后右心室功能的改善。

Korean Journal of Pediatrics Pub Date : 2018-12-01 Epub Date: 2018-10-26 DOI: 10.3345/kjp.2018.06436

Dong Yeop Kim, Kyung Ok Ko, Jae Woo Lim, Jung Min Yoon, Young Hwa Song, Eun Jeong Cheon

{"title":"The improvement of right ventricular function after adenotonsillectomy in children with obstructive sleep apnea.","authors":"Dong Yeop Kim, Kyung Ok Ko, Jae Woo Lim, Jung Min Yoon, Young Hwa Song, Eun Jeong Cheon","doi":"10.3345/kjp.2018.06436","DOIUrl":"https://doi.org/10.3345/kjp.2018.06436","url":null,"abstract":"Purpose: Adenotonsillar hypertrophy (ATH) that causes upper airway obstruction might lead to chronic hypoxemic pulmonary vasoconstriction and right ventricular (RV) dysfunction. We aimed to evaluate whether adenotonsillectomy (T&A) in children suffering from obstructive sleep apnea (OSA) due to severe ATH could improve RV function.Methods: Thirty-seven children (boy:girl=21:16; mean age, 9.52±2.20 years), who underwent T&A forsleep apnea due to ATH, were included. We analyzedthe mean pulmonary artery pressure (mPAP), the presence and the maximal velocity of tricuspid regurgitation (TR), the tricuspid annular plane systolic excursion (TAPSE), and the right ventricular myocardial performance index (RVMPI) with tissue Doppler echocardiography (TDE) by transthoracic echocardiography pre- and post-T&A. The follow-up period was 1.78±0.27 years.Results: Only the RVMPI using TDE improved after T&A (42.18±2.03 vs. 40±1.86, P=0.001). The absolute value of TAPSE increased (21.45±0.90 mm vs. 22.30±1.10 mm, P=0.001) but there was no change in the z score of TAPSE pre- and post-T&A (1.19±0.34 vs. 1.24±0.30, P=0.194). The mPAP was within normal range in children with ATH, and there was no significant difference between pre- and post-T&A (19.6±3.40 vs. 18.7±2.68, P=0.052). There was no difference in the presence and the maximal velocity of TR (P=0.058).Conclusion: RVMPI using TDE could be an early parameter of RV function in children with OSA due to ATH.","PeriodicalId":17863,"journal":{"name":"Korean Journal of Pediatrics","volume":"61 12","pages":"392-396"},"PeriodicalIF":0.0,"publicationDate":"2018-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d0/b3/kjp-2018-06436.PMC6313087.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"36617952","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 6