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A Case of Epidermolysis Bullosa Simplex (Dowling-Meara 1 Type) in Newborn

Hong G, Choi M

Epidermolysis bullosa is a rare genetic skin disease in which skin easily peels off and blisters are formed with mild mechanical trauma. It is classified into simple, borderline, dysmorphic, and...
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Erythropoietin Reduces Death and Neurodevelopmental Impairment in Neonatal Hypoxic-Ischemic Encephalopathy

Bang SJ, Lee J, Jeon GW, Jun YH

Purpose: Erythropoietin (EPO) is a promising neuroprotective drug. We investigated whether EPO has beneficial effects on neurodevelopmental outcomes in infants with hypoxic-ischemic encephalopathy (HIE). Methods: We retrospectively reviewed the data of...
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First Successful Application of Preimplantation Genetic Diagnosis for Lethal Neonatal Rigidity and Multifocal Seizure Syndrome in Korea: A Case Report

Yeom GE, Jung YH, Kim SY, Choi SA, Kim H, Choi CW

Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by rigidity, intractable multifocal seizures, microcephaly, apnea, and bradycardia immediately after birth. RMFSL is...
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Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report

Hong SJ, Park JE, Sohn YB, Suh YA, Lee JH, Park MS

Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known...
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Rapidly Progressive Pericardial Effusion and Cardiac Tamponade in a Term Infant with an Umbilical Venous Catheter: A Case Report

Park MJ, Ahn JH, Lee HJ, Park HK, Hwang JK, Kim CR, Na JY

Pericardial effusion (PCE) in neonates has various clinical presentations depending on the amount and speed of fluid accumulation and can cause cardiac tamponade (CT). We report a case of rapidly...
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