1.Prevalence of Dental Anomalies in Patients with Non-syndromic Cleft Lip with or without Cleft Palate
Jisu OH ; Soyeon BAK ; Hyeonheon LEE
Journal of Korean Academy of Pediatric Dentistry 2024;51(1):66-79
This study aimed to assess the prevalence and distribution pattern of dental anomalies in the permanent teeth of patients with non-syndromic cleft lip with or without cleft palate. Additionally, it aimed to compare differences in dental anomalies between cleft and non-cleft areas, considering gender and cleft phenotype. Panoramic radiographs of 164 patients diagnosed with non-syndromic orofacial clefts were retrospectively analyzed by a single examiner to confirm dental anomalies. The dental anomalies investigated included tooth agenesis, supernumerary teeth, microdontia, rotation, ectopic eruption, and enamel hypoplasia. Cleft phenotypes were categorized into 7 types based on medical and dental records. A significantly higher prevalence of supernumerary teeth was observed in males than females within non-cleft areas (p = 0.017), with no significant differences in other dental anomalies. In non-cleft area, patients with cleft palate exhibited a high prevalence of tooth agenesis (p < 0.0001) and microdontia (p = 0.012) compared to other cleft phenotypes. Maxillary incisor rotation was closely associated with adjacent tooth agenesis in unilateral cleft lip and palate cases (p = 0.034). This study suggests that the additional subphenotype based on dental anomalies in patients with orofacial cleft may serve as applicable clinical markers.
2.Aspirin for Primary Prevention of Cardiovascular Disease
Ji Hye KIM ; Min Jung SHIM ; So Young LEE ; Jisu OH ; Sang Hoon KIM
Journal of Lipid and Atherosclerosis 2019;8(2):162-172
Aspirin has been used for decades for the primary and secondary prevention of cardiovascular disease (CVD). The effect of aspirin in secondary prevention is well-known but is still debatable for primary prevention. Despite the controversy, aspirin is believed to have a beneficial effect in primary prevention and has been widely used. However, whether the doubts concerning the wide use of aspirin are correct has resulted in the publication of data from several large clinical trials recently. There are several clinical guidelines from various international organizations on the use of aspirin for the primary prevention of CVD, and they offer some conflicting recommendations. A reduction in the overall incidence of CVD with the development of modern prevention therapies has weakened the impact of aspirin in primary prevention. Large randomized clinical trials have found decreased or no difference in CVD events but a significant increase in the risk of bleeding. Taking aspirin for the primary prevention of CVD is no longer recommended, especially for patients who have a low to moderate risk. An assessment of the balance between the benefits and risks of aspirin use should be considered.
Aspirin
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Cardiovascular Diseases
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Hemorrhage
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Humans
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Incidence
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Primary Prevention
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Publications
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Risk Assessment
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Secondary Prevention
3.Thyroid Dyshormonogenesis Due to Dual Oxidase Maturation Factor 2 Mutation as Non-Transient Status of Hypothyroidism
Jisu LEE ; Sang-gyeom KIM ; Arum OH ; Heon-Seok HAN
International Journal of Thyroidology 2022;15(1):54-59
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 children, who were initially suspected to have transient congenital hypothyroidism (CH), but later confirmed to have permanent CH caused by DUOXA2 mutation. Treatment with levothyroxine was discontinued after confirming thyroid-stimulating hormone (TSH) level to be below 10 μU/mL and normal thyroid scan at the first or second trial-off therapy. However, after therapy cessation, TSH elevated to more than 10 μU/mL, and goiter developed in case 2. As a result, levothyroxine was resumed. Next-generation sequencing showed compound heterozygous mutations of DUOXA2 at Y138X and Y246X in case 1 and homozygous mutations of DUOXA2 at Y246X in case 2. In this report, a longer follow-up is recommended even after treatment termination in transient CH, and genetic studies might help assess the permanence of hypothyroidism in cases of mildly elevated TSH after trial-off therapy.
4.Ultrasonographic Development and Progression of a Thyroid Nodule in a Girl with TPO-Mutated Dyshormonogenesis during Levothyroxine Supplementation
Jisu LEE ; Arum OH ; Heon-Seok HAN
International Journal of Thyroidology 2023;16(1):128-133
Dyshormonogenesis is caused by genetic defects in thyroid hormone synthesis. The most common form is thyroid peroxidase (TPO) deficiency. Clinically variable degree of hypothyroidism and thyroid gland enlargement depend on the severity of the defect. We report 22-year-old female with congenital hypothyroidism (CH) caused by TPO deficiency. Since goitrous CH was diagnosed at 8-year-old, L-thyroxine has been supplemented. Her goiter size was fluctuated according to the compliance on the medication. After 3.5 years of medication, ultrasonography found solid nodule, which was interpreted as nodular hyperplasia pathologically. The nodule size did not change during recent 10 years except peripheral calcification. Genetic analysis using NGS for CH revealed compound heterozygous variants of c.2757del;p.(Met921Trpfs*53) and c.1580G>T;p.(Trp527Leu) in TPO gene. The first variant inherited from asymptomatic mother is pathogenic frame-shift mutation associated with stop codon, and the second one inherited from her asymptomatic father is predicted as deleterious in bioinformatics software program. From this case, we have observed that nodular change and calcification developed from diffuse enlarged goiter in dyshormonogenetic patient. Early molecular diagnosis of dyshormonogenesis and TSH suppression is important for not developing thyroid nodules in case of childhood euthyroid goiter without thyroid autoantibodies.
5.Characterization of anti-factor VIII antibody in a patient with acquired hemophilia A.
Jisu OH ; Yeongmin LIM ; Moon Ju JANG ; Ji Young HUH ; Midori SHIMA ; Doyeun OH
Blood Research 2013;48(1):58-62
Acquired hemophilia A (AHA) is a bleeding disorder caused by the development of an auto-antibody against endogenous factor VIII (FVIII). In this study, the epitope of the autoantibody was identified in a 67-year-old female patient with AHA. A prolonged activated partial thromboplastin time (77.4 s) that failed to correct in an incubation mixing test (68.2 s), a decreased FVIII activity, and a high FVIII inhibitor (14.6 Bethesda units/mL) were observed. Enzyme-linked immunosorbent assay demonstrated that the antibody belonged to the immunoglobulin G4 subclass. An immunoblotting assay revealed the light chain (A3/C1/C2 domain) of FVIII as the binding region of the antibody. The bleeding experienced by our patient resulted from the interference of FVIII binding to both FIX by anti-A3 antibodies and phospholipids and von Willebrand factor by anti-C2 antibodies. To the best of our knowledge, this is the first study in Korea characterizing an autoantibody in the context of AHA.
Antibodies
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Enzyme-Linked Immunosorbent Assay
;
Factor VIII
;
Female
;
Hemophilia A
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Hemorrhage
;
Humans
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Immunoblotting
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Immunoglobulins
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Korea
;
Light
;
Partial Thromboplastin Time
;
Phospholipids
;
von Willebrand Factor
6.Characterization of anti-factor VIII antibody in a patient with acquired hemophilia A.
Jisu OH ; Yeongmin LIM ; Moon Ju JANG ; Ji Young HUH ; Midori SHIMA ; Doyeun OH
Blood Research 2013;48(1):58-62
Acquired hemophilia A (AHA) is a bleeding disorder caused by the development of an auto-antibody against endogenous factor VIII (FVIII). In this study, the epitope of the autoantibody was identified in a 67-year-old female patient with AHA. A prolonged activated partial thromboplastin time (77.4 s) that failed to correct in an incubation mixing test (68.2 s), a decreased FVIII activity, and a high FVIII inhibitor (14.6 Bethesda units/mL) were observed. Enzyme-linked immunosorbent assay demonstrated that the antibody belonged to the immunoglobulin G4 subclass. An immunoblotting assay revealed the light chain (A3/C1/C2 domain) of FVIII as the binding region of the antibody. The bleeding experienced by our patient resulted from the interference of FVIII binding to both FIX by anti-A3 antibodies and phospholipids and von Willebrand factor by anti-C2 antibodies. To the best of our knowledge, this is the first study in Korea characterizing an autoantibody in the context of AHA.
Antibodies
;
Enzyme-Linked Immunosorbent Assay
;
Factor VIII
;
Female
;
Hemophilia A
;
Hemorrhage
;
Humans
;
Immunoblotting
;
Immunoglobulins
;
Korea
;
Light
;
Partial Thromboplastin Time
;
Phospholipids
;
von Willebrand Factor
7.Asymptomatic pneumatosis intestinalis following chemotherapy for B lymphoblastic leukemia with recurrent genetic abnormalities in an adolescent patient.
Dae Kyu SHIN ; Jisu OH ; Harry YOON ; Jo Eun KIM ; So Young CHONG ; Doyeun OH
Korean Journal of Hematology 2012;47(1):74-76
Pneumatosis intestinalis (PI) is a rare condition characterized by multiple pneumocysts in the submucosa or subserosa of the bowel. Here, we report a rare case of asymptomatic PI after chemotherapy induction in an 18-yr-old man with B lymphoblastic leukemia with recurrent genetic abnormalities. The patient was treated conservatively and recovered without complications. The possibility of PI should be considered as a complication during or after chemotherapy for hematologic malignancies. Conservative treatment should be considered unless there are complications, including peritonitis, bowel perforation, and severe sepsis.
Adolescent
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Hematologic Neoplasms
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Humans
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Peritonitis
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Precursor Cell Lymphoblastic Leukemia-Lymphoma
;
Sepsis
8.Intramedullary Stabilization Technique Using Headless Compression Screws for Distal Ulnar Fractures
Clinics in Orthopedic Surgery 2020;12(1):130-134
Distal ulnar fractures are commonly accompanied by distal radial fractures, and several treatment options such as plate osteosynthesis and pinning with Kirschner's wires are used. In this study, we present a technique using headless compression screws to achieve bony union of distal ulnar fractures. From November 2016 to November 2018, we treated 11 patients with distal ulnar fractures combined with distal radial fractures with headless compression screws (DePuy Synthes). Patients were instructed to maintain a short-arm splint for less than two weeks after the treatment. The mean time to bony union was 6.5 weeks, mean Quick Disabilities of the Arm, Shoulder, and Hand score was 14.6 points, and mean visual analog scale score was 1.09 points. Full range of motion was possible in all directions after surgery and no specific complications were observed. The suggested technique allows minimal incision and minimally invasive intramedullary fixation and can promote bony union in a simple way without specific complications.
9.Prognostic utility of ADAMTS13 activity for the atypical hemolytic uremic syndrome (aHUS) and comparison of complement serology between aHUS and thrombotic thrombocytopenic purpura
Jisu OH ; Doyeun OH ; Seon Ju LEE ; Jeong Oh KIM ; Nam Keun KIM ; So Young CHONG ; Ji Young HUH ; Ross I BAKER ;
Blood Research 2019;54(3):218-228
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) involves dysregulation of the complement system, but whether this also occurs in thrombotic thrombocytopenic purpura (TTP) remains unclear. Although these conditions are difficult to differentiate clinically, TTP can be distinguished by low (<10%) ADAMTS13 activity. The aim was to identify the differences in complement activation products between TTP and aHUS and investigate ADAMTS13 activity as a prognostic factor in aHUS. METHODS: We analyzed patients with thrombotic microangiopathy diagnosed as TTP (N=48) or aHUS (N=50), selected from a Korean registry (N=551). Complement activation products in the plasma samples collected from the patients prior to treatment and in 40 healthy controls were measured by ELISA. RESULTS: The levels of generalized (C3a), alternate (factor Bb), and terminal (C5a and C5b-9) markers were significantly higher (all P<0.01) in the patients than in the healthy controls. Only the factor Bb levels significantly differed (P=0.008) between the two disease groups. In aHUS patients, high normal ADAMTS13 activity (≥77%) was associated with improved treatment response (OR, 6.769; 95% CI, 1.605–28.542; P=0.005), remission (OR, 6.000; 95% CI, 1.693–21.262; P=0.004), exacerbation (OR, 0.242; 95% CI, 0.064–0.916; P=0.031), and disease-associated mortality rates (OR, 0.155; 95% CI, 0.029–0.813; P=0.017). CONCLUSION: These data suggest that complement biomarkers, except factor Bb, are similarly activated in TTP and aHUS patients, and ADAMTS13 activity can predict the treatment response and outcome in aHUS patients.
Atypical Hemolytic Uremic Syndrome
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Biomarkers
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Complement Activation
;
Complement System Proteins
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Enzyme-Linked Immunosorbent Assay
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Humans
;
Mortality
;
Plasma
;
Purpura, Thrombotic Thrombocytopenic
;
Thrombotic Microangiopathies
10.Metastatic Thyroid Gland Tumor Presenting as an Initial Manifestation of Recurrent Uterine Cervical Cancer.
So Dam HONG ; Jae Kyoung SHIN ; Hee Jin HONG ; Jin Hyung HEO ; So Young CHONG ; Doyoun OH ; Jisu OH
Korean Journal of Medicine 2016;90(1):68-71
Most patients with recurrent uterine cervical cancer have intra-pelvis metastasis with adjacent lymph node involvement, while a lone, distant metastasis is extremely rare. We report a 79-year-old woman with recurrent uterine cervical cancer that presented as thyroid mass with no intra-pelvic recurrence. Four years earlier, the patient had been diagnosed with uterine cervical cancer. She had undergone a course of concurrent chemoradiotherapy to the pelvis and had no subsequent evidence of recurrence. Several weeks before presenting, she had noticed a foreign body sensation in her throat and a palpable mass in the left side of her neck. Clinically, this was metastatic squamous cell carcinoma from the uterine cervix. Patients who present with swelling or palpable nodules in the neck with a previously diagnosed malignancy must be evaluated for metastatic disease, although metastasis from uterine cervical carcinoma to the thyroid gland is rare.
Aged
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Carcinoma, Squamous Cell
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Cervix Uteri
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Chemoradiotherapy
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Female
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Foreign Bodies
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Humans
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Lymph Nodes
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Neck
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Neoplasm Metastasis
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Pelvis
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Pharynx
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Recurrence
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Sensation
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Thyroid Gland*
;
Thyroid Neoplasms
;
Uterine Cervical Neoplasms*