1.Mutation and Functional Characteristics of MYH9 Responsible for Giant Platelet Syndromes in Korean Patients
Jin Soo HWANG ; Hee Jo BAEK ; Soo Min PARK ; Bo Ram KIM ; Hoon KOOK
Clinical Pediatric Hematology-Oncology 2026;33(1):1-12
Background:
Autosomal dominant giant platelet syndrome (GPS) is characterized by thrombocytopenia, giant platelets, and Döhle-like inclusion bodies in leukocytes.Previous studies suggest relatively preserved platelet structure and function, implicating impaired megakaryocyte fragmentation. This study aimed to identify myosin heavy chain 9 (MYH9) mutations in Korean patients with GPS and to define the associated clinical, molecular and functional characteristics.
Methods:
After detailed personal and family history taking, peripheral blood smears were reviewed for platelet size, count, and leukocyte inclusions. MYH9 mutations were analyzed in peripheral blood mononuclear cells by direct sequencing of selected exons or complementary DNA (cDNA). Computer-assisted structural modeling was performed to evaluate the functional consequences of identified mutations.
Results:
Twenty-two affected individuals from six unrelated families were diagnosed with hereditary macrothrombocytopenia consistent with GPS. The median platelet count was 59,000/L, and the mean platelet volume was markedly increased (17.8 fL). Platelets ranged from approximately half to 1.5 times the size of red blood cells.Döhle-like inclusions were observed in 25-33% of leukocytes in four families. Extrahematologic manifestations included hearing impairment (family with Ile1816Val) and renal involvement, ranging from mild proteinuria to chronic renal failure requiring renal transplantation (family with Lys373Asn). Five families harbored MYH9 mutations—Arg1933Ter, Trp33Cys (novel), Lys373Asn, Ile1816Val, and Arg1165Cys—located in exons 40, 1, 10, 37, and 26, respectively; mutations segregated with affected status.Biochemical analysis revealed decreased MYH9 in soluble fractions with increased insoluble pellets; Trp33Cys and Lys373Asn produced aberrant approximately 140 kDa bands in addition to the normal 224 kDa band. Modeling localized Trp33Cys to the proximal myosin head region implicated in actin interaction.
Conclusion
Five GPS-associated MYH9 mutations were identified, including a novel Trp33Cys variant. Altered MYH9 solubility and disturbed protein–protein interactions may contribute to disease pathogenesis.
2.Cone-beam computed tomography-based analysis of anatomical structures surrounding maxillary molars for palatal endodontic microsurgery
Hyoung-Hoon JO ; Bo-Kyung PARK ; Kun-Hwa SUNG ; Jeong-Bum MIN ; Ho-Keel HWANG
Oral Biology Research 2025;49(4):23-
This study aimed to evaluate anatomical factors influencing the palatal approach for endodontic microsurgery in maxillary molars using cone-beam computed tomography (CBCT). Understanding the spatial relationship between the palatal root apex and surrounding anatomical structures is essential for effective surgical planning. CBCT scans of 100 patients, comprising 200 maxillary first molars and 200 maxillary second molars with 3 separate roots, were retrospectively analyzed. Measurements included palatal bone thickness at the root apex and at a simulated 3-mm resection level, buccolingual root width, palatal soft-tissue thickness, the angle between the palatal root axis and the palatal soft-tissue surface, and the vertical relationship between the palatal root apex and the maxillary sinus floor. Palatal bone thickness at the apex was significantly greater in maxillary first molars than in second molars (4.01 mm vs. 3.39 mm; p<0.05). Palatal bone thickness at the 3-mm level and buccolingual root width did not differ significantly. Palatal soft tissue was significantly thicker in maxillary second molars at both measurement levels (p<0.05). The angle representing the surgical trajectory showed no significant difference between tooth types. Regarding the sinus relationship, type II (apex contacting the sinus floor) was most frequently observed in first molars, whereas type I (sinus floor above the apex) predominated in second molars. No significant difference was found in the mean apex-to-sinus distance between groups. These findings highlight the importance of CBCTbased evaluation of palatal bone, soft tissue, and sinus proximity when evaluating the feasibility and complexity of the palatal approach in endodontic microsurgery.
3.Predicting the response to cardiac resynchronization therapy using in silico heart models: pilot study of comparison between in silico and real cardiac resynchronization therapy outcomes
Jae-Sun UHM ; Minki HWANG ; Eun Bo SHIM ; Daehoon KIM ; Chan Joo LEE ; Jaewon OH ; Hee Tae YU ; Tae-Hoon KIM ; Boyoung JOUNG ; Hui-Nam PAK ; Seok-Min KANG ; Moon-Hyoung LEE
International Journal of Arrhythmia 2025;26(1):e9-
Background and Objectives:
Cardiac resynchronization therapy (CRT) is a treatment option for patients with heart failure and left ventricular (LV) dyssynchrony. However, one-third of CRT patients are non-responders. The objective of this study is to evaluate the feasibility of an in silico electromechanical heart model to predict CRT outcomes.
Methods:
The three-dimensional heart geometries of 11 patients (age, 64.0 ± 10.7 years, 4 men) with CRT were constructed from cardiac computed tomography images. The finite element method was used to simulate the electrical wave propagation and mechanics in the heart. We coupled cardiac electrical excitation and mechanical contraction with vascular hemodynamics using a lumped parameter model. We predicted the LV end-diastolic and end-systolic volumes and LV ejection fraction (LVEF) after CRT implantation using the in silico CRT simulation model. A CRT responder was defined as a patient with an absolute LVEF increase ≥ 5%. We compared the in silico CRT outcomes with the real CRT outcomes.
Results:
Two patients were in silico CRT responders, and those 2 patients were also real CRT responders. Nine patients were in silico CRT non-responders, 8 who were real CRT non-responders, and 1 who was a real CRT responder. The in silico CRT outcomes agreed with the real CRT outcomes in 10 of 11 patients. The positive and negative predictive values, accuracy, sensitivity, and specificity of the in silico CRT model were 100%, 88.9%, 90.9%, 66.7%, and 100%, respectively.
Conclusion
The in silico CRT simulation model is feasible for predicting real CRT outcomes.
4.A prospective multicenter clinical study on the efficiency of detachable ball- and spring-retained implant prosthesis
Min-Jung KIM ; Won-Tak CHO ; Su-Hyun HWANG ; Ji-Hyeon BAE ; Eun-Bin BAE ; June-Sung SHIM ; Jong-Eun KIM ; Chang-Mo JEONG ; Jung-Bo HUH
The Journal of Advanced Prosthodontics 2023;15(4):202-213
PURPOSE:
This prospective clinical study was conducted to evaluate the clinical usefulness of the freely detachable zirconia ball- and spring-retained implant prosthesis (BSRP) through a comparative analysis of screw- and cement-retained implant prosthesis (SCRP).
MATERIALS AND METHODS:
A multi-center, randomized, prospective clinical study evaluating the clinical usefulness of the detachable zirconia ball- and spring-retained implant prostheses was conducted. Sixty-four implant prostheses in 64 patients were examined. Periodic observational studies were conducted at 0, 3, 6, and 12 months after delivery of the implant prosthesis. Factors such as implant success rate, marginal bone resorption, periodontal pocket depth, plaque and bleeding index, and prosthetic complications were evaluated, respectively.
RESULTS:
During the 1-year observation period, all implants survived without functional problems and clinical mobility, showing a 100% implant success rate. Marginal bone resorption was significantly higher in the SCRP group than in the BSRP group only at the time of implant prosthesis delivery (P = .043). In all observation periods, periodontal pocket depth was slightly higher in the BSRP group than in the SCRP group, but there was no significant difference (P > .05). The modified plaque index (mPI) scores of both groups were moderate. Higher ratio of a score 2 in modified sulcus bleeding index (mBI) was observed in the BSRP group in the 6- and 12-months observation.
CONCLUSION
Within the limitations of this study, the newly developed zirconia ball- and spring-retained implant prosthesis could be considered as an applicable and predictable treatment method along with the existing screw- and cement-retained prosthesis.
5.Generative Adversarial Network-Based Image Conversion Among Different Computed Tomography Protocols and Vendors: Effects on Accuracy and Variability in Quantifying Regional Disease Patterns of Interstitial Lung Disease
Hye Jeon HWANG ; Hyunjong KIM ; Joon Beom SEO ; Jong Chul YE ; Gyutaek OH ; Sang Min LEE ; Ryoungwoo JANG ; Jihye YUN ; Namkug KIM ; Hee Jun PARK ; Ho Yun LEE ; Soon Ho YOON ; Kyung Eun SHIN ; Jae Wook LEE ; Woocheol KWON ; Joo Sung SUN ; Seulgi YOU ; Myung Hee CHUNG ; Bo Mi GIL ; Jae-Kwang LIM ; Youkyung LEE ; Su Jin HONG ; Yo Won CHOI
Korean Journal of Radiology 2023;24(8):807-820
Objective:
To assess whether computed tomography (CT) conversion across different scan parameters and manufacturers using a routable generative adversarial network (RouteGAN) can improve the accuracy and variability in quantifying interstitial lung disease (ILD) using a deep learning-based automated software.
Materials and Methods:
This study included patients with ILD who underwent thin-section CT. Unmatched CT images obtained using scanners from four manufacturers (vendors A-D), standard- or low-radiation doses, and sharp or medium kernels were classified into groups 1–7 according to acquisition conditions. CT images in groups 2–7 were converted into the target CT sty le (Group 1: vendor A, standard dose, and sharp kernel) using a RouteGAN. ILD was quantified on original and converted CT images using a deep learning-based software (Aview, Coreline Soft). The accuracy of quantification was analyzed using the dice similarity coefficient (DSC) and pixel-wise overlap accuracy metrics against manual quantification by a radiologist. Five radiologists evaluated quantification accuracy using a 10-point visual scoring system.
Results:
Three hundred and fifty CT slices from 150 patients (mean age: 67.6 ± 10.7 years; 56 females) were included. The overlap accuracies for quantifying total abnormalities in groups 2–7 improved after CT conversion (original vs. converted: 0.63vs. 0.68 for DSC, 0.66 vs. 0.70 for pixel-wise recall, and 0.68 vs. 0.73 for pixel-wise precision; P < 0.002 for all). The DSCs of fibrosis score, honeycombing, and reticulation significantly increased after CT conversion (0.32 vs. 0.64, 0.19 vs. 0.47, and 0.23 vs. 0.54, P < 0.002 for all), whereas those of ground-glass opacity, consolidation, and emphysema did not change significantly or decreased slightly. The radiologists’ scores were significantly higher (P < 0.001) and less variable on converted CT.
Conclusion
CT conversion using a RouteGAN can improve the accuracy and variability of CT images obtained using different scan parameters and manufacturers in deep learning-based quantification of ILD.
6.In silico screening method for non‑responders to cardiac resynchronization therapy in patients with heart failure: a pilot study
Minki HWANG ; Jae‑Sun UHM ; Min Cheol PARK ; Eun Bo SHIM ; Chan Joo LEE ; Jaewon OH ; Hee Tae YU ; Tae‑Hoon KIM ; Boyoung JOUNG ; Hui‑Nam PAK ; Seok‑Min KANG ; Moon‑Hyoung LEE
International Journal of Arrhythmia 2022;23(1):2-
Background:
Cardiac resynchronization therapy (CRT) is an effective treatment option for patients with heart failure (HF) and left ventricular (LV) dyssynchrony. However, the problem of some patients not responding to CRT remains unresolved. This study aimed to propose a novel in silico method for CRT simulation.
Methods:
Three-dimensional heart geometry was constructed from computed tomography images. The finite ele‑ ment method was used to elucidate the electric wave propagation in the heart. The electric excitation and mechani‑ cal contraction were coupled with vascular hemodynamics by the lumped parameter model. The model parameters for three-dimensional (3D) heart and vascular mechanics were estimated by matching computed variables with measured physiological parameters. CRT effects were simulated in a patient with HF and left bundle branch block (LBBB). LV end-diastolic (LVEDV) and end-systolic volumes (LVESV), LV ejection fraction (LVEF), and CRT responsiveness measured from the in silico simulation model were compared with those from clinical observation. A CRT responder was defined as absolute increase in LVEF ≥ 5% or relative increase in LVEF ≥ 15%.
Results:
A 68-year-old female with nonischemic HF and LBBB was retrospectively included. The in silico CRT simu‑ lation modeling revealed that changes in LVEDV, LVESV, and LVEF by CRT were from 174 to 173 mL, 116 to 104 mL, and 33 to 40%, respectively. Absolute and relative ΔLVEF were 7% and 18%, respectively, signifying a CRT responder.In clinical observation, echocardiography showed that changes in LVEDV, LVESV, and LVEF by CRT were from 162 to 119 mL, 114 to 69 mL, and 29 to 42%, respectively. Absolute and relative ΔLVESV were 13% and 31%, respectively, also signifying a CRT responder. CRT responsiveness from the in silico CRT simulation model was concordant with that in the clinical observation.
Conclusion
This in silico CRT simulation method is a feasible technique to screen for CRT non-responders in patients with HF and LBBB.
7.Recombinant proteins of spike protein of SARS-CoV-2 with the Omicron receptor-binding domain induce production of highly Omicron-specific neutralizing antibodies
Hyangju KANG ; Daniel KIM ; Kyungmin MIN ; Minhee PARK ; Seok-Hyun KIM ; Eun-Ju SOHN ; Bo-Hwa CHOI ; Inhwan HWANG
Clinical and Experimental Vaccine Research 2022;11(3):285-289
Various vaccines have been developed to fight severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for the coronavirus disease 2019 pandemic.However, new variants of SARS-CoV-2 undermine the effort to fight SARS-CoV-2. Here, we produced S proteins harboring the receptor-binding domain (RBD) of the Omicron variant in plants. Plant-produced S proteins together with adjuvant CIA09A triggered strong immune responses in mice. Antibodies in serum inhibited interaction of recombinant human angiotensinconverting enzyme 2 with RBD of the Omicron variant, but not RBD of other variants. These results suggest that antibodies induced by RBD of the Omicron variant are highly specific for the Omicron RBD, but not for that of other variants.
8.Effect of an Individually Tailored Program Based on Self-Measurement of Blood Glucose on Health Behavior and HbA1c in Diabetes and Pre-diabetes Patients
Yoon-kyung KIM ; Bo-Ra KIM ; Eun-Suk YOO ; Seo-Yeong YUN ; Mi-Jeong JEONG ; Ji-Hye CHOI ; Jae-Soon CHOI ; Hyun-Jin SUNG ; Young-Suk KANG ; Min-Sook LEE ; Tae-Yoon HWANG
Journal of Agricultural Medicine & Community Health 2022;47(2):67-77
Objective:
This study was to evaluate the effectiveness of an individually tailored program based on self-measurement of blood glucose on health behavior and HbA1c in diabetes and pre-diabetes patients.
Methods:
The program consisted of seven sessions for 12 weeks which were carried out every two weeks. Almost all sessions were progressed on untact method except for the first and last session. The 71 subjects were assessed for their knowledge of diabetes, health behavior, the experience of self-measurement of blood glucose, body mass Index (BMI) and hemoglobin A1c (HbA1c) at before and after the program. They were also evaluated on their degree of utilization of blood glucose measurements after the program.
Results:
Each mean score on their knowledge of diabetes, health behavior and the experience of self-measurement of blood glucose was significantly increased from 14.77, 25.50, and 2.70 to 15.41, 28.40, and 4.81, respectively. Each mean score on both BMI and HbA1c (n=53) was significantly decreased from 24.47kg/m2 and 7.27% to 24.01kg/m2 and 6.67%, respectively. The post-HbA1c had a significant negative correlation(r=-0.415) with the degree of utilization of blood glucose measurements. The degree of utilization of blood glucose measurements had a significant positive correlation(r=0.581) with post-health behavior.
Conclusions
The program shows effectiveness in improving HbA1c in Type 2 diabetes and pre-diabetes patients. The post-HbA1c might be related to the degree of utilization of blood glucose measurements which might be related to the health behavior.
9.Lymphomatoid Granulomatosis Involving the Lung and Brain in a Child: A Case Report
Sook Min HWANG ; So-Young YOO ; Ji Hye KIM ; Tae Yeon JEON ; Sae Lin OH ; Eun Yoon CHO ; Bo-Kyung JE
Journal of the Korean Radiological Society 2021;82(1):267-273
Lymphomatoid granulomatosis (LG) is a rare B-cell type angiocentric lymphoproliferative disease that can progress to extranodal lymphoma with high mortality. It most commonly affects the lungs, although extrapulmonary systems, including the brain and skin, can also be involved. LG in pediatric patients has been very rarely reported in the literature with limited imaging features. Herein, we report a pediatric case of LG involving the lung and brain with characteristic imaging findings.
10.Comparing Outcomes of Retrograde Intramedullary Nail and Locking Plate Fixation in Distal Femoral Fractures
Byung-Ho YOON ; Bo Kwon HWANG ; Hyoung-Keun OH ; Suk Kyu CHOO ; Jong Min SOHN ; Yerl-Bo SUNG
Journal of the Korean Fracture Society 2021;34(4):131-136
Purpose:
We compared the radiological and clinical results of fixation for distal femoral fracture (DFF) using a locking compression plate (LCP) or a retrograde intramedullary nail (RIN).
Materials and Methods:
From October 2003 to February 2020, 52 cases of DFF with a minimum 1-year follow-up (with a mean follow-up of 19.1 months) were included: 31 were treated with LCP and 21 with RIN. The operation time, blood loss, and hospitalization period were compared, and the incidence of postoperative nonunion, malunion, delayed union and metal failure and other post-operative complications were evaluated and compared.
Results:
There was no significant difference in the operating time between the two groups, but the mean blood loss was significantly higher in the LCP group (LCP 683.5 ml vs RIN; 134.9 ml; p=0.015). In 49 out of 52 cases, bone union was achieved without additional surgery in an average of 6.8 months, and a complete union was achieved after additional surgery in three cases of nonunion (LCP 2 cases vs RIN 1 case; p=0.065). One case of malunion and superficial infection was confirmed in each group.
Conclusion
Internal fixation using LCP and RIN give good outcomes with a low complication rate and can therefore be considered useful surgical treatments for DFF.

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