Purpose: This study was conducted to determine the malignancy risk and diagnostic value of various types of nonshadowing echogenic foci (NEF) in the risk stratification of thyroid nodules. Methods: A total of 1,018 consecutive thyroid nodules (≥1 cm) with final diagnoses were included. The presence of NEF was determined and types of NEF were classified according to the presence of a comet tail artifact (CTA), location, and size through a prospective evaluation. The associations with malignancy, malignancy risk, and diagnostic value of various types of NEF were assessed. Results: Intrasolid punctate NEF without CTA was the only type of NEF that was an independent predictor of malignancy (P<0.001). The malignancy risk of intrasolid punctate NEF without CTA was substantially higher in solid hypoechoic nodules than in isoechoic or nonsolid nodules (71.3% vs. 9.2%, P<0.001). In solid hypoechoic nodules, slightly increased sensitivity (70.8% vs. 67.9%) for malignancy and a similar malignancy risk (71.4% vs. 71.3%) were observed for intrasolid punctate NEF (with or without CTA) and intrasolid punctate NEF without CTA, respectively. NEF with CTA at the margin of the cystic component was not associated with malignancy or benignity in nonsolid nodules (P>0.05). Conclusion Intrasolid punctate NEF without CTA was the only independent predictor of malignancy. However, solid hypoechoic nodules with intrasolid punctate NEF should be classified as high-suspicion nodules regardless of coexisting CTA. Other types of NEF had no added value for detecting malignancy compared to intrasolid punctate NEF without CTA.

Age Distribution ; Diagnosis ; Female ; Humans ; Male ; Retrospective Studies ; Salivary Gland Calculi ; Salivary Gland Diseases ; Salivary Glands ; Sialadenitis ; Submandibular Gland

A 37-year-old female presented to our hospital with a history of bleeding episodes (excessive bleeding after tooth extraction, gum bleeding, easy bruising, and excessive menstruation) and severe thrombocytopenia (2,000/µL). She had no family history of bleeding tendency or thrombocytopenia. No peripheral lymphadenopathy or splenomegaly was noted. The patient's white blood cell count was normal; hemoglobin was 9.7 g/dL. A peripheral blood smear showed markedly decreased platelets, with occasional giant or large platelets. Bone marrow examination found increased megakaryocytes. The patient also complained of hearing difficulty; a hearing test indicated sensory-neural hearing impairment. Her thrombocytopenia was refractory to treatment with glucocorticosteroids, intravenous gamma-globulin, and danazol. In the 13 years following her initial presentation, the patient required anti-hypertensive treatment, a hearing-aid for progressive hearing loss, and started maintenance kidney dialysis. Her clinical history of refractory thrombocytopenia, progressive hearing impairment, and renal failure suggested myosin heavy chain 9 gene-related congenital syndrome (Epstein syndrome), which was confirmed by the presence of a heterozygous deletion mutation, c.221_223del, (p.Lys74del) in peripheral leukocyte deoxyribonucleic acid.
Adult ; Bone Marrow Examination ; Danazol ; Dialysis ; DNA ; Female ; gamma-Globulins ; Gingiva ; Hearing ; Hearing Loss ; Hearing Loss, Sensorineural ; Hearing Tests ; Hemorrhage ; Humans ; Kidney ; Leukocyte Count ; Leukocytes ; Lymphatic Diseases ; Megakaryocytes ; Myosin Heavy Chains ; Renal Insufficiency ; Renal Insufficiency, Chronic ; Sequence Deletion ; Splenomegaly ; Thrombocytopenia* ; Tooth Extraction

OBJECTIVES: The purpose of this study is to investigate the professional knowledge and perceptions of the early screening of Autism Spectrum Disorder (ASD) in practitioners who have contact with patients with ASD. METHODS: A survey was carried out among 674 practitioners in total, where practitioners are defined as those who work at primary medical centers, public institutions, educational institutions and treatment institutions. The survey was carried out both online and offline, and it mainly focused on 1) knowledge about ASD symptoms, 2) knowledge about the early screening of ASD, 3) measures taken after ASD detection, 4) thoughts on the development of early screening tools for ASD, and 5) the current status of ASD treatment. The data collected were analyzed through descriptive statistics, analysis of frequency and cross tabulation analysis using SPSS WIN 22.0. RESULTS: The results of this study suggest that the practitioners were not aware of the exact symptoms of ASD and their professional knowledge and the environment for early screening were insufficient. Furthermore, very few and inappropriate measures were taken after the detection of ASD. In addition, there was a high demand for early ASD screening tools to be used on site and, regarding treatment, the significance of the implementation of evidence based treatments as well as the continuity of relevant research came to the fore. CONCLUSION: It seems that there is a lack of knowledge and perception of the early screening of ASD and that education and training among practitioners is urgently required. This issue is discussed in more detail in the paper.
Autism Spectrum Disorder* ; Autistic Disorder* ; Education ; Humans ; Mass Screening*

BACKGROUND AND PURPOSE: To analyze 18F-THK5351 positron emission tomography (PET) scans of patients with clinically diagnosed nonfluent/agrammatic variant primary progressive aphasia (navPPA). METHODS: Thirty-one participants, including those with Alzheimer's disease (AD, n=13), navPPA (n=3), and those with normal control (NC, n=15) who completed 3 Tesla magnetic resonance imaging, 18F-THK5351 PET scans, and detailed neuropsychological tests, were included. Voxel-based and region of interest (ROI)-based analyses were performed to evaluate retention of 18F-THK5351 in navPPA patients. RESULTS: In ROI-based analysis, patients with navPPA had higher levels of THK retention in the Broca's area, bilateral inferior frontal lobes, bilateral precentral gyri, and bilateral basal ganglia. Patients with navPPA showed higher levels of THK retention in bilateral frontal lobes (mainly left side) compared than NC in voxel-wise analysis. CONCLUSIONS: In our study, THK retention in navPPA patients was mainly distributed at the frontal region which was well correlated with functional-radiological distribution of navPPA. Our results suggest that tau PET imaging could be a supportive tool for diagnosis of navPPA in combination with a clinical history.
Alzheimer Disease ; Aphasia, Primary Progressive* ; Basal Ganglia ; Broca Area ; Diagnosis ; Frontal Lobe ; Humans ; Magnetic Resonance Imaging ; Neurofibrillary Tangles ; Neuropsychological Tests ; Positron-Emission Tomography ; Primary Progressive Nonfluent Aphasia ; tau Proteins

Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However, the exact prevalence of fragile X syndrome in Korean patients with mental retardation is unknown. We have performed cytogenetic and molecular analysis for fragile X syndrome in 212 Korean patients with mental retardation. Among them, six patients (2.8%) was identified as carrying fragile X syndrome by both cytogenetic and molecular analysis. The results by cytogenetic analysis was identical to those by molecular analysis. Cytogenetic analysis of 6 carriers (mothers of patients with proven fragile X syndrome) showed a fragile X chromosome in one patients (16.7%) while molecular analysis revealed premutation in all patients. PCR method using Klentaq1 Pfu polymerase showed the same results as those by PCR method using Exo(-) Pfu polymerase, but the former method is recommended because of its simplicity in technical aspect. These data suggest that the prevalence of fragile X syndrome in Korean patients with mental retardation is 2.8%, not significantly different from those in Caucasians.
Cytogenetic Analysis ; Cytogenetics ; Diagnosis ; Fragile X Syndrome* ; Humans ; Incidence* ; Intellectual Disability* ; Molecular Biology ; Polymerase Chain Reaction ; Prevalence ; X Chromosome

BACKGROUND AND PURPOSE: There are three distinct subtypes of primary progressive aphasia (PPA): the nonfluent/agrammatic variant (nfvPPA), the semantic variant (svPPA), and the logopenic variant (lvPPA). We sought to characterize the pattern of [¹⁸F]-THK5351 retention across all three subtypes and determine the topography of [¹⁸F]-THK5351 retention correlated with each neurolinguistic score. METHODS: We enrolled 50 participants, comprising 13 PPA patients (3 nfvPPA, 5 svPPA, and 5 lvPPA) and 37 subjects with normal cognition (NC) who underwent 3.0-tesla magnetic resonance imaging, [¹⁸F]-THK5351 positron-emission tomography scans, and detailed neuropsychological tests. The PPA patients additionally participated in extensive neurolinguistic tests. Voxel-wise and region-of-interest-based analyses were performed to analyze [¹⁸F]-THK5351 retention. RESULTS: The nfvPPA patients exhibited higher [¹⁸F]-THK5351 retention in the the left inferior frontal and precentral gyri. In svPPA patients, [¹⁸F]-THK5351 retention was elevated in the anteroinferior and lateral temporal cortices compared to the NC group (left>right). The lvPPA patients exhibited predominant [¹⁸F]-THK5351 retention in the inferior parietal, lateral temporal, and dorsolateral prefrontal cortices, and the precuneus (left>right). [¹⁸F]-THK5351 retention in the left inferior frontal area was associated with lower fluency scores. Comprehension was correlated with [¹⁸F]-THK5351 retention in the left temporal cortices. Repetition was associated with [¹⁸F]-THK5351 retention in the left inferior parietal and posterior temporal areas, while naming difficulty was correlated with retention in the left fusiform and temporal cortices. CONCLUSIONS: The pattern of [¹⁸F]-THK5351 retention was well matched with clinical and radiological findings for each PPA subtype, in agreement with the anatomical and functional location of each language domain.
Aphasia, Primary Progressive ; Cognition ; Comprehension ; Humans ; Magnetic Resonance Imaging ; Neurofibrillary Tangles ; Neuropsychological Tests ; Parietal Lobe ; Positron-Emission Tomography ; Prefrontal Cortex ; Rabeprazole ; Semantics ; Temporal Lobe

PURPOSE: In Korea, pregnancy termination is frequently reported among women who took medications for an acute or chronic disease during pregnancy, for fear of teratogenic risk. We have previously shown that a service providing evidence-based information is helpful for women who week counseling to make a rational decision regarding their pregnancies. This study aimed to evaluate whether termination of pregnancy based on such perceptions, is justified using the 'DRug Exposure and risk Assessment in Moms' (DREAM) registry. METHODS: The study included 5,032 consenting pregnant women from the clinic and call center at the Korean Motherisk Program, from November 1999 to October 2008. The DREAM registry recorded the pregnancy outcomes (preterm birth, low birth weight, intrauterine fetal death, and congenital anomaly) of 3,328 women. RESULTS: Among women exposed to medications, time of exposure ranged from 3.5-4.6 weeks of gestation. There were 1,308 different drugs prescribed to these women. The drug most frequently prescribed was acetaminophen followed by chlorpheniramine maleate, and pseudoephedrine. There were 4.7% (n=156/3,328) women who underwent a voluntary abortion for fear of birth defects. We compared frequency of birth defects between exposed women and unexposed pregnant women in our institution during gestation. The frequency of major congenital malformations was 2.5% (n=74/2,977) in exposed group and 2.9% (n=75/2,573) in unexposed group (P=0.32). There was no statistically significant difference between exposed and control group in the rate of preterm births, intrauterine fetal death and low-birth weight babies. CONCLUSION: We did not observe increased risk of congenital malformations and adverse pregnancy outcomes in a population of pregnant women exposed to a variety of medications. Therefore these medications are not considered teratogen.
Acetaminophen ; Chlorpheniramine ; Chronic Disease ; Congenital Abnormalities ; Counseling ; Female ; Fetal Death ; Humans ; Infant, Low Birth Weight ; Infant, Newborn ; Korea ; Maleates ; Parturition ; Pregnancy ; Pregnancy Outcome ; Pregnant Women ; Premature Birth ; Pseudoephedrine ; Risk Assessment

The Committee of Clinical Practice Guidelines of the Korean Diabetes Association revised and updated the 6th Clinical Practice Guidelines in 2019. Targets of glycemic, blood pressure, and lipid control in type 2 diabetes mellitus (T2DM) were updated. The obese and overweight population is increasing steadily in Korea, and half of the Koreans with diabetes are obese. Evidence-based recommendations for weight-loss therapy for obesity management as treatment for hyperglycemia in T2DM were provided. In addition, evidence from large clinical studies assessing cardiovascular outcomes following the use of sodium-glucose cotransporter-2 inhibitors and glucagon-like peptide 1 receptor agonists in patients with T2DM were incorporated into the recommendations.
Blood Pressure ; Diabetes Mellitus, Type 2 ; Diagnosis ; Glucagon-Like Peptide 1 ; Humans ; Hyperglycemia ; Korea ; Obesity ; Overweight

In May 2023, the Committee of Clinical Practice Guidelines of the Korean Diabetes Association published the revised clinical practice guidelines for Korean adults with diabetes and prediabetes. We incorporated the latest clinical research findings through a comprehensive systematic literature review and applied them in a manner suitable for the Korean population. These guidelines are designed for all healthcare providers nationwide, including physicians, diabetes experts, and certified diabetes educators who manage patients with diabetes or individuals at risk of developing diabetes. Based on recent changes in international guidelines and the results of a Korean epidemiological study, the recommended age for diabetes screening has been lowered. In collaboration with the relevant Korean medical societies, recently revised guidelines for managing hypertension and dyslipidemia in patients with diabetes have been incorporated into this guideline. An abridgment containing practical information on patient education and systematic management in the clinic was published separately.