The outcome of short-term low-dose aspirin treatment in Kawasaki disease based on inflammatory markers.
CONCLUSION: Most of the inflammatory marker levels were normalized within 3-4 weeks after the acute phase of KD. New cardiovascular complications did not develop during the course of the short-term aspirin treatment based on the inflammatory marker levels, clinical findings, and echocardiography.
PMID: 28203257 [PubMed - in process] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - February 20, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Recommended immunization schedule for children and adolescents: Immunization Guideline (8th edition) released by the Korean Pediatric Society in 2015.
This report includes the recommended immunization schedule table for children and adolescents based on the 8th (2015) and revised 7th (2012) Immunization Guidelines released by the Committee on Infectious Diseases of the Korean Pediatric Society (KPS). Notable revised recommendations include: reorganization of the immunization table with a list of vaccines on the vertical axis and the corresponding age on the horizontal axis; reflecting the inclusion of Haemophilus influenzae type b vaccine, pneumococcal conjugate vaccine, and hepatitis A vaccine into the National Immunization Program since 2012; addition of general recomm...
Source: Korean Journal of Pediatrics - February 16, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Enteral nutrition for optimal growth in preterm infants.
Authors: Kim MJ
Abstract
Early, aggressive nutrition is an important contributing factor of long-term neurodevelopmental outcomes. To ensure optimal growth in premature infants, adequate protein intake and optimal protein/energy ratio should be emphasized rather than the overall energy intake. Minimal enteral nutrition should be initiated as soon as possible in the first days of life, and feeding advancement should be individualized according to the clinical course of the infant. During hospitalization, enteral nutrition with preterm formula and fortified human milk represent the best feeding practices for...
Source: Korean Journal of Pediatrics - February 16, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Clinical predictors of chest radiographic abnormalities in young children hospitalized with bronchiolitis: a single center study.
CONCLUSION: The current study suggests that chest radiographs in young children with typical clinical manifestations of bronchiolitis have limited value. Nonetheless, young children with clinical factors such as high hs-CRP levels at admission or past history of hospitalization for respiratory illnesses may be more likely to have pathologic chest radiographic findings.
PMID: 28194212 [PubMed - in process] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - February 16, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Predictive factors of resistance to intravenous immunoglobulin and coronary artery lesions in Kawasaki disease.
CONCLUSION: Serum NT-proBNP levels and PMN percentage were significantly elevated in patients with KD with IVIG resistance and CAL. Thus, they may be useful predicting markers for IVIG resistance and development of CAL in KD patients.
PMID: 28194213 [PubMed - in process] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - February 16, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Single-center experience of the Korean-Developmental Screening Test for infants and children.
CONCLUSION: The use of K-DST should be encouraged, especially among children aged over 24 months. Multiple-choice question format for the additional questions is recommended to avoid confusion. We suggest a nationwide study to evaluate and revise the K-DST.
PMID: 28194214 [PubMed - in process] (Source: Korean Journal of Pediatrics)
Source: Korean Journal of Pediatrics - February 16, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Accidental ingestion of E-cigarette liquid nicotine in a 15-month-old child: an infant mortality case of nicotine intoxication.
We present here a mortality case of a 15-month-old child who ingested liquid nicotine mistaking it for cold medicine. When the emergency medical technicians arrived, she was found to have pulseless electrical activity. Spontaneous circulation was restored after approximately 40 minutes of cardiopulmonary resuscitation. The cotinine level in her urine was 1,716 ng/mL. Despite intensive supportive care, severe anoxic brain injury was found on computed tomography and the child ultimately died. This fatality highlights the need for public health efforts to minimize such accidents.
PMID: 28194215 [PubMed - in process] (...
Source: Korean Journal of Pediatrics - February 16, 2017 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A nonsense PAX6 mutation in a family with congenital aniridia.
Authors: Han KH, Lee HJ, Ha IS, Kang HG, Cheong HI
Abstract
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to mutations in the paired box gene-6 (PAX6), which is an essential gene in eye development. Herein, we report a familial case of autosomal dominant congenital aniridia with four affected members in 3 consecutive generations and describe the detailed ophthalmologic findings for one of these members. As expected, mutational analysis revealed a nonsense mutatio...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation.
We report a novel NOD2 genetic mutation that causes BS. A girl, aged 8 years, and her brother, aged 10 years, developed erythematous skin rashes and uveitis. The computed tomography angiogram of the younger sister showed features of midaortic dysplastic syndrome. The brother had more prominent joint involvement than the sister. Their father (38 years) was also affected by uveitis; however, only minimal skin involvement was observed in his case. The paternal aunt (39 years) and her daughter (13 years) were previously diagnosed with sarcoidosis. Mutational analysis revealed a novel c.1439 A>G mutation in the NOD2 gene in ...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Chromosome 11q13 deletion syndrome.
In this report, we describe a 1-year-old girl presenting with ptosis of the left upper eyelid, right auricular deformity, high-arched palate, delayed dentition, simian line on the right hand, microcephaly, and developmental delay. In this patient, we identified a deletion in the chromosome 11q13.2-q13.3 (2.75 Mb) region by using an array-comparative genomic hybridization analysis. The deletion in chromosome 11q13 results in a syndrome characterized by variable clinical manifestations. Some of these manifestations involve craniofacial dysmorphology and require a functional workup for hearing, ophthalmic examinations, and lo...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
1p36 deletion syndrome confirmed by fluorescence in situ hybridization and array-comparative genomic hybridization analysis.
Authors: Kang DS, Shin E, Yu J
Abstract
Pediatric epilepsy can be caused by various conditions, including specific syndromes. 1p36 deletion syndrome is reported in 1 in 5,000-10,000 newborns, and its characteristic clinical features include developmental delay, mental retardation, hypotonia, congenital heart defects, seizure, and facial dysmorphism. However, detection of the terminal deletion in chromosome 1p by conventional G-banded karyotyping is difficult. Here we present a case of epilepsy with profound developmental delay and characteristic phenotypes. A 7-year- and 6-month-old boy experienced afebril...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Interstitial deletion of 5q33.3q35.1 in a boy with severe mental retardation.
Authors: Lee JH, Kim HJ, Yoon JM, Cheon EJ, Lim JW, Ko KO, Lee GM
Abstract
Constitutional interstitial deletions of the long arm of chromosome 5 (5q) are quite rare, and the corresponding phenotype is not yet clearly delineated. Severe mental retardation has been described in most patients who present 5q deletions. Specifically, the interstitial deletion of chromosome 5q33.3q35.1, an extremely rare chromosomal aberration, is characterized by mental retardation, developmental delay, and facial dysmorphism. Although the severity of mental retardation varies across cases, it is the most common feature describ...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.
This study describes the clinical features and outcomes of Korean patients with Phelan-McDermid syndrome. Two patients showing global developmental delay, hypotonia, and speech delay were diagnosed with Phelan-McDermid syndrome via chromosome analysis, fluorescent in situ hybridization, and multiplex ligation-dependent probe amplification analysis. Brain magnetic resonance imaging of Patients 1 and 2 showed delayed myelination and severe communicating hydrocephalus, respectively. Electroencephalography in patient 2 showed high amplitude spike discharges from the left frontotemporoparietal area, but neither patient develope...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 of SLC2A1.
Authors: Lee HH, Hur YJ
Abstract
Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of differen...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
A neonate with Joubert syndrome presenting with symptoms of Horner syndrome.
We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered f...
Source: Korean Journal of Pediatrics - December 28, 2016 Category: Pediatrics Tags: Korean J Pediatr Source Type: research
