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Ovarian dysgerminoma with Müllerian anomaly: a case report

Kim HN, Byun JM, Park JO, Yoon HK, Kim DH, Jeong DH, Kim YN, Lee KB, Sung MS

Müllerian anomalies are rare deformities in women, and only a few cases concerning gynecologic malignancies arising in patients with congenital uterine malformations have been reported. Herein, we present the case...
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Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis

Kim YM, Oh A, Kim KS, Yoo HW, Choi JH

PURPOSE: Patients with ovotesticular disorder of sex development (DSD) and mixed gonadal dysgenesis (MGD) usually present with asymmetric gonads and have wide phenotypic variations in internal and external genitalia. The...
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Direct Reprogramming to Human Induced Neuronal Progenitors from Fibroblasts of Familial and Sporadic Parkinson’s Disease Patients

Lee M, Sim H, Ahn H, Ha J, Baek A, Jeon YJ, Son MY, Kim J

In Parkinson’s disease (PD) research, human neuroblastoma and immortalized neural cell lines have been widely used as in vitro models. The advancement in the field of reprogramming technology has provided...
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microRNA-146a Promotes Growth of Acute Leukemia Cells by Downregulating Ciliary Neurotrophic Factor Receptor and Activating JAK2/STAT3 Signaling

Wang L, Zhang H, Lei D

PURPOSE: Acute leukemia (AL) is classified as acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). This study aimed to investigate the effect of miR-146a on childhood AL and its...
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Hypomelanosis of Ito with Multiple Congenital Anomalies

Yu DA, Kwon O, Kim KH

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI...
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Treatment of Hidradenitis Suppurativa Patient with Klinefelter Syndrome by Adalimumab

Shin JY, Hong JY, Lee HJ, Sim CY, Park YL, Lee JS, Lee SY, Kim JE

Hidradenitis suppurativa (HS) is a chronic, inflammatory and painful skin disease with recurrent nodules and tracts involving the intertriginous regions. It is known that the patient with HS shows an...
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Clinicopathological features of premature ovarian insufficiency associated with chromosome abnormalities

Jo HC, Park JK, Baek JC, Park JE, Kang MY, Cho IA

PURPOSE: The aim of this study was to investigate the clinicopathological features of premature ovarian insufficiency (POI) associated with chromosomal abnormalities. MATERIALS AND METHODS: This was a retrospective study of POI...
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Enhanced polo-like kinase 1 expression in myelodysplastic syndromes

Min KI, Park S, Shin SH, Kwon YR, Kim HJ, Kim YJ

BACKGROUND: Cancer is characterized by uncontrolled cellular proliferation, and Polo-like kinase 1 (PLK1), a key regulator of the cell cycle, is overexpressed in many cancers, including acute leukemia and lymphoma....
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Clinical Validation of Non-Invasive Prenatal Testing for Fetal Common Aneuploidies in 1,055 Korean Pregnant Women: a Single Center Experience

Lee DE, Kim H, Park J, Yun T, Park DY, Kim M, Ryu HM

BACKGROUND: Non-invasive prenatal testing (NIPT) using cell-free fetal DNA from maternal plasma for fetal aneuploidy identification is expanding worldwide. The objective of this study was to evaluate the clinical utility...
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A Rare Case of Lethal Prenatal-Onset Infantile Cortical Hyperostosis

Kim ST, Kim H, Kim HH, Lee NH, Han Y, Sung SI, Chang YS, Park WS

Infantile cortical hyperostosis, or Caffey's disease, usually presents with typical radiological features of soft tissue swelling and cortical thickening of the underlying bone. The disease can be fatal when it...
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Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population

Wang M, Wang H, Zhao H, Li L, Liu M, Liu F, Meng F, Fan C

BACKGROUND: 17α-hydroxylase deficiency is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene. The major clinical presentation includes hypertension, hypokalemia,...
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Promyelocytic Leukemoid Reaction: Unusual Findings in a Patient with Sepsis

Kim YK

Neutrophilic leukemoid reaction may occur in many situations, including hemolysis, malignancy, infection, and exposure to certain toxins. It usually shows morphological overlap with chronic myeloid leukemia in which promyelocytes are...
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Prenatal chromosomal microarray analysis of fetus with increased nuchal translucency

Shim SH, Cha DH

Nuchal translucency is an important indicator of an aneuploid fetus in prenatal diagnostics. Previously, only the presence of aneuploid could be confirmed by conventional karyotyping of fetuses with thick nuchal...
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The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing

Choi EM, Lee DH, Kang SJ, Shim YJ, Kim HS, Kim JS, Jeong JI, Ha JS, Jang JH

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...
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Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Heo YJ, Ko JM, Lee YA, Shin CH, Yang SW, Kim MJ, Park SS

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical...
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Prenatally Diagnosed and Surviving Patient with Jarcho-Levin Syndrome: Case Report with Literature Review

Lee CY, Lee NM, Yi DY, Yun SW, Chae SA, Lim IS, Kim GJ

Jarcho-Levin syndrome is a congenital disorder characterized by several vertebral and costal anomalies. Other abnormalities have also been described, including neural tube defects, Arnold-Chiari malformation, renal/urinary tract abnormalities, hydrocephalus, hydroureteronephrosis,...
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Overexpression of indoleamine 2,3-dioxygenase correlates with regulatory T cell phenotype in acute myeloid leukemia patients with normal karyotype

Arandi N, Ramzi M, Safaei F, Monabati A

BACKGROUND: Production of immunosuppressive enzymes such as indoleamine 2,3-dioxygenase (IDO) is one of the strategies employed by hematologic malignancies, including acute myeloid leukemia (AML), to circumvent immune surveillance. Moreover, IDO...
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Characterization of Human Fetal Cartilage Progenitor Cells During Long-Term Expansion in a Xeno-Free Medium

Kim HR, Kim J, Park SR, Min BH, Choi BH

BACKGROUND: Stem cell therapy requires a serum-free and/or chemically-defined medium for commercialization, but it is difficult to find one that supports long-term expansion of cells without compromising their stemness, particularly...
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A Rare Case of Hyponatremia Caused by Reset Osmostat in a Neonate with Cleft Lip, Cleft Palate, and Imperforate Anus

Ahn JG, Lee JE, Chung WY, Koo SH, Shin J, Jeon GW

Hyponatremia is defined as a plasma sodium concentration of < 135 mEq/L. It is a common electrolyte imbalance in newborns. We report the case of a term neonate with cleft...
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Pontine Hypoplasia and Cri-du-chat Syndrome in a Preterm Infant

Jung YJ

A premature infant with gestational age 36⁺⁴ weeks was admitted with respiratory distress syndrome. Surfactant and ventilation were firstly done to improve his respiration. After extubation, weak, high-pitched cry and...
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