Identification of the KCNJ2 Mutation in a Korean Family with Andersen-Tawil Syndrome and Developmental Delay.

Andersen-Tawil syndrome is a rare autosomal dominant disease characterized by the clinical triad of periodic paralysis, long QT with ventricular arrhythmias, and dysmorphic facial or skeletal features. However, the phenotypic heterogeneity and poor disease awareness of this syndrome can hinder an accurate and timely diagnosis. In this study, we describe a Korean family with Andersen-Tawil syndrome with a G215D mutation of the KCNJ2 gene revealed by diagnostic exome sequencing.

Thyroid dysfunction in very low birth weight preterm infants.

Purpose: Thyroid dysfunction is common in preterm infants. Congenital hypothyroidism causes neurodevelopmental impairment, which is preventable if properly treated. This study was conducted to describe the characteristics of thyroid dysfunction in very low birth weight infants (VLBWIs), evaluate risk factors of hypothyroidism, and suggest the reassessment of thyroid function with an initially normal thyroid-stimulating hormone (TSH) as part of a newborn screening test.

Efficacy of surfactant-TA, calfactant and poractant alfa for preterm infants with respiratory distress syndrome: a retrospective study.

Purpose: To compare the efficacy of the new drug calfactant with the commonly used drugs surfactant-TA and poractant alfa.

Materials And Methods: A total of 332 preterm infants at 24-31 weeks' gestation with respiratory distress syndrome (RDS) were enrolled and allocated to three groups according to the surfactant instilled; Group 1 (n=146, surfactant-TA), Group 2 (n=96, calfactant), and Group 3 (n=90, poractant alfa). The diagnosis of RDS and the decision to replace the pulmonary surfactant were left to the attending physician and based on patient severity determined by chest radiography and blood gas analysis.

Identification of a de novo heterozygous missense FLNB mutation in lethal atelosteogenesis type I by exome sequencing.

Background: Atelosteogenesis type I (AO-I) is a rare lethal skeletal dysplastic disorder characterized by severe short-limbed dwarfism and dislocated hips, knees, and elbows. AO-I is caused by mutations in the filamin B (FLNB) gene; however, several other genes can cause AO-like lethal skeletal dysplasias.

Methods: In order to screen all possible genes associated with AO-like lethal skeletal dysplasias simultaneously, we performed whole-exome sequencing in a female newborn having clinical features of AO-I.

Successful caspofungin treatment of persistent candidemia in extreme prematurity at 23 and 24 weeks' gestation.

Systemic fungal infection continues to be a major cause of mortality in extremely low-birth-weight premature infants. Amphotericin B has been recommended as the primary treatment; however, its use is limited due to drug-induced nephrotoxicity and amphotericin B-resistant candidemia. Caspofungin therapy was initiated in seven extremely premature infants at 23 and 24 weeks' gestation with persistent systemic candidiasis despite liposomal amphotericin B treatment.

Clinical and genetic analysis of a Korean patient with X-linked chondrodysplasia punctata: identification of a novel splicing mutation in the ARSE gene.

X-linked recessive chondrodysplasia punctata (CDPX1) is a rare congenital disorder of bone and cartilage development, characterized by punctate calcification in areas of endochondral bone formation, leading to stippled epiphyses, severe nasal and midfacial hypoplasia, short stature, and brachytelephalangy. CDPX1 is caused by mutations in the arylsulfatase E (ARSE) gene located on chromosome Xp22.3.

Risk factors of transfusion in anemia of very low birth weight infants.

Purpose: Anemia of prematurity is frequent in preterm infants, for which red blood cell (RBC) transfusion remains the treatment of choice. In this study, we attempted to evaluate the characteristics and risk factors of anemia of prematurity, and suggest ways to reduce anemia and the need for multiple transfusions.

Materials And Methods: Preterm infants weighing less than 1500 g (May 2008-May 2009) were divided into two groups depending on whether they received RBC transfusions (transfusion group and non transfusion group).

Immunogenicity, reactogenicity and safety of a human rotavirus vaccine (RIX4414) in Korean infants: a randomized, double-blind, placebo-controlled, phase IV study.

Rotavirus (RV) infection is the primary cause for childhood gastroenteritis worldwide. In Korea, RV infection is most common among children less than 5 years of age. This post-licensure study was conducted to further evaluate the RV vaccine (RIX4414) to provide additional local clinical data to the Korean Food and Drug Association.

A case of de novo duplication of 15q24-q26.3.

Distal duplication, or trisomy 15q, is an extremely rare chromosomal disorder characterized by prenatal and postnatal overgrowth, mental retardation, and craniofacial malformations. Additional abnormalities typically include an unusually short neck, malformations of the fingers and toes, scoliosis and skeletal malformations, genital abnormalities, particularly in affected males, and, in some cases, cardiac defects. The range and severity of symptoms and physical findings may vary from case to case, depending upon the length and location of the duplicated portion of chromosome 15q.

A case of Pfeiffer syndrome with c833_834GC>TG (Cys278Leu) mutation in the FGFR2 gene.

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis.

Granulocyte colony stimulating factor attenuates hyperoxia-induced lung injury by down-modulating inflammatory responses in neonatal rats.

Purpose: Granulocyte colony stimulating factor (G-CSF) has been known to increase neutrophil production and have anti-inflammatory properties, but the effect of G-CSF on pulmonary system is in controversy. We investigated whether G-CSF treatment could attenuate hyperoxia-induced lung injury, and whether this protective effect is mediated by the down-modulation of inflammatory responses in a neonatal rat model.

Materials And Methods: Newborn Sprague-Dawley rats (Orient Co.

The first Korean case of cutaneous lung tissue heterotopia.

Cutaneous lung tissue heterotopia is a very rare disorder where mature lung tissues develop in the skin. This is only the second known report of cutaneous lung tissue heterotopia, with the first by Singer et al. in 1998.