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Treatment of congenital hypogonadotropic hypogonadism in male patients

Lee HS, Shim YS, Hwang JS

Congenital hypogonadotropic hypogonadism (CHH) is characterized by complete or partial failure of pubertal development because of inadequate secretion of gonadotropic hormones. CHH consists of hypogonadotropic hypogonadism with anosmia or hyposmia,...
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A Case of Secondary Anetoderma after Rapidly Involuting Congenital Hemangioma

Chang HJ, Woo YR, Cho SH, Lee JD, Kim HS

  • KMID: 2532853
  • Korean J Dermatol.
  • 2022 Aug;60(7):457-459.
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Correction of pixie ear: infraauricular skin redraping method

Kim JH, Yang YB, Oh DY

Patients with pixie ear have an attached, tapering, and low-set earlobe. Traditional methods usually describe excision of the caudal portion of the lobule and reattachment in a more superior position....
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Changes in Corneal Thickness in Congenital Glaucoma, Using Anterior Segment Optical Coherence Tomography

Lee C, Lee EJ, Jang Y, Han JC, Kee CW

Purpose: We examined corneal thickness, particularly morphological changes in the limbus, as the intraocular pressure increased in patients with congenital glaucoma. Methods: We retrospectively studied 31 children (47 eyes) with congenital...
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Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study

Wie JH, Han YJ, Kim SH, Kim MY, Cho HY, Lee MY, Chung JH, Lee SM, Oh Sy, Lee JH, Boo HY, Cho GJ, Kwon HS, Kim BJ, Park MH, Ryu HM, Ko HS

Purpose: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. Materials and Methods: This study was conducted as...
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A Bicentric Propensity Matched Analysis of 158 Patients Comparing Porcine Versus Bovine Stented Bioprosthetic Valves in Pulmonary Position

Ramchandani B, Sánchez R, Rey J, Polo L, Gonzalez , Lamas MJ, Centella T, Díez J, Aroca

Background and Objectives: Pulmonary valve replacement (PVR) is the most common operation in adults with congenital heart disease (CHD). There is controversy regarding the best bioprosthesis. We compare the performance...
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Evolution of Medical Conferences for Congenital Heart Disease Imagers in the Era of COVID-19: From Onsite to Virtual Meetings

Tsai IC, Goo HW, Latiff HA, Goo SY, Park SJ

Due to COVID-19, onsite medical conferences were converted to virtual or hybrid formats, which have been widely accepted and successful. However, hands-on training and workshops among groups studying congenital heart...
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Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa

Kwak JJ, Kim HR, Byeon SH

Here, we report early treatment outcomes of gene therapy for early onset retinitis pigmentosa (RP) (Leber congenital amaurosis) associated with biallelic RPE65 mutation in a 30-year-old female patient. Initially, her...
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Deep-learning segmentation of ultrasound images for automated calculation of the hydronephrosis area to renal parenchyma ratio

Song SH, Han JH, Kim KS, Cho YA, Youn HJ, Kim YI, Kweon J

Purpose: We investigated the feasibility of measuring the hydronephrosis area to renal parenchyma (HARP) ratio from ultrasound images using a deep-learning network. Materials and Methods: The coronal renal ultrasound images of...
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Antenatal diagnosis of congenital heart disease by 3D ultrasonography using spatiotemporal image correlation with HDlive Flow and HDlive Flow silhouette rendering modes

Malho AS, Bravo-Valenzuela NJ, Ximenes R, Peixoto AB, Araujo Júnior E

This pictorial review describes the assessment of a great variety of types of congenital heart disease by three-dimensional ultrasonography with spatiotemporal image correlation using HDlive and the HDlive Flow silhouette...
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Congenital cystic adenomatoid malformation of the lung: a case report with embryological review

Gosain R, Motwani R

Congenital cystic adenomatoid malformation (CCAM) is a rare developmental dysplastic lesion that affects the fetal bronchial tree. Etiopathogenesis is still poorly understood. Most accepted view is that of abnormal branching...
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Multidisciplinary Management of Congenital Diaphragmatic Hernia: from Womb to Home

Lee BS

Despite recent advances in prenatal diagnosis and newborn treatment strategies, the survival rate of congenital diaphragmatic hernia (CDH) has not changed much in the range of 60% to 80% over...
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Outcomes of the Warden Procedure for Anomalous Pulmonary Venous Return to the Superior Vena Cava: A 17-Year Experience

Lim SC, Kwak JG, Cho S, Min J, Lee S, Kwon HW, Kim WH

Background: Surgical repair of partial anomalous pulmonary venous return (PAPVR) to the superior vena cava (SVC) using the Warden procedure has favorable outcomes. However, there remain some concerns after the...
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Association between Physical Activity and Chronotropic Incompetence in Patients with Complex Congenital Heart Disease

Kim HJ, Yoon JK, Kim CH, Kim SH, Franklin BA, Jae SY

Purpose: Although chronotropic incompetence (CI) is common in patients with complex congenital heart disease (CHD) and is associated with adverse cardiovascular outcomes, few data are available regarding modifiable predictors of...
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Neurodevelopmental outcomes and comorbidities of children with congenital muscular torticollis: evaluation using the National Health Screening Program for Infants and Children database

Kim OH, Lee SW, Ha EK, Kim JH, Jo YH, Rhie S, Han MY, Chae KY

Background: Congenital muscular torticollis (CMT) is a common musculoskeletal disorder occurring at birth or in infancy. Purpose: This study aimed to investigate the risk of comorbidities in CMT and explore the...
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Feasibility of Single-Stage Posterior Passive Correction and Fusion Surgery for Congenital Scoliosis in Adolescent Patients Who Have Attained Skeletal Maturity

Chiu CK, Tan RL, Gani SMA, Chong JSL, Chung WH, Chan CYW, Kwan MK

Study Design: Retrospective study. Purpose: To report the perioperative and radiological outcomes of single-stage posterior passive correction and fusion (SSPPCF) in adolescent patients who present with congenital scoliosis. Overview of Literature: The...
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Perinatal Prognostic Factors for Congenital Diaphragmatic Hernia: A Korean Single-Center Study

Jeon S, Jeong MH, Jeong SH, Park SJ, Lee N, Bae MH, Park KH, Byun SY, Kim SH, Cho YH, Kim C, Han YM

Purpose: This study aimed to identify prognostic factors based on treatment outcomes for congenital diaphragmatic hernia (CDH) at a single-center and to identify factors that may improve these outcomes. Methods: Thirty-five...
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Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism

Lee J, Kim Sg, Oh A, Han HS

Dual oxidase maturation factor 2 (DUOXA2) is necessary for the enzymatic activity of dual oxidase 2 (DUOX2) to generate hydrogen peroxide production during thyroid hormone synthesis. We describe two Korean...
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Early postoperative arrhythmias after pediatric congenital heart disease surgery: a 5-year audit from a lower- to middle-income country

Ishaque S, Akhtar S, Ladak AA, Martins RS, Memon MKY, Kazmi AR, Mahmood F, Haque Au

Background: Arrhythmias are known complication after surgery for congenital heart disease (CHD). This study aimed to identify and discuss their immediate prevalence, diagnosis and management at a tertiary care hospital...
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Genetics and genomics of bone marrow failure syndrome

Kim HY, Kim HJ, Kim SH

Inherited bone marrow failure syndrome (IBMFS) is a group of clinically heterogeneous disorders characterized by significant hematological cytopenias of one or more hematopoietic cell lineages and is associated with an...
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