1.Global Perspectives on Managing Incidental and Secondary Findings in Genomic Testing:A Comprehensive Review of Policies, Implementation Challenges, and Stakeholder Perspectives
Jisook YIM ; Kyung Sun PARK ; Eul-Ju SEO
Annals of Laboratory Medicine 2026;46(1):16-31
The rapid advancement of genome sequencing has increased the detection of incidental findings (IFs) and secondary findings (SFs), raising complex ethical and practical challenges in both clinical and research settings. This review examines policies, guidelines, and stakeholder perspectives on IF/SF across different jurisdictions, focusing on articles published between 2000 and 2024. We found significant variation in IF/SF reporting practices, reflecting different healthcare systems and ethical frameworks. While the American College of Medical Genetics and Genomics supports proactive SF reporting, European and Canadian policies adopt more conservative approaches. Stakeholder perspectives also varied; patients generally preferred receiving results, whereas healthcare professionals’ support depended on factors including actionability and patient age. Particular challenges emerged in relation to pediatric cases, with ongoing debates about balancing future autonomy with potential medical benefits. Implementation barriers were identified across jurisdictions, including resource constraints, knowledge limitations, and a lack of standardized procedures. Despite consensus on the potential value of IF/SF reporting, inconsistencies in approaches and implementation challenges persist. Current evidence suggests the need for more sophisticated, context-sensitive frameworks that can accommodate different healthcare systems while maintaining consistent ethical standards. Further research is required to understand the long-term effects of different reporting approaches on patients, healthcare systems, and society.
2.The Impact of Omicron Wave on Pediatric Febrile Seizure
Jaehyung JOUNG ; Heewon YANG ; Yoo Jin CHOI ; Jisook LEE ; Yura KO
Journal of Korean Medical Science 2023;38(3):e18-
Background:
The coronavirus disease 2019 (COVID-19) omicron (B.1.1.529) variant reduced the risk of severe disease compared with the original strain and other variants, but it appeared to be highly infectious, which resulted in an exponential increase in confirmed cases in South Korea. As the number of confirmed cases increased, so did the number of pediatric patients’ hospitalization. This study aims to evaluate the frequency and clinical features of febrile seizure associated with the COVID-19 omicron variant in children.
Methods:
We retrospectively reviewed the medical records of children aged under 18 years with febrile seizure who were tested for COVID-19 from February 2020 to April 2022 at Ajou University Hospital, South Korea. Based on the dominant variants, we divided the period into the pre-omicron (from February 2020 to December 2021) and omicron periods (from January 2022 to April 2022) and compared the clinical characteristics between the two. Also, we compared the clinical characteristics of febrile seizure between COVID-19 positive and negative group during the omicron period.
Results:
Among the 308 children, 211 patients (9.2 patients/months) and 97 patients (24.3 patients/months) were grouped into pre-omicron and omicron periods, respectively.Compared with the pre-omicron period, patients in the omicron period showed significantly higher mean age (pre-omicron vs. omicron, 22.0 vs. 28.0 months; P = 0.004) and COVID-19 positive results (pre-omicron vs. omicron, 0.5% vs. 62.9%; P < 0.001). As the COVID-19 confirmed cases in the omicron period increased, the number of COVID-19 associated febrile seizure also increased. In the omicron period, 61 children were confirmed to be positive for COVID-19, and COVID-19 positive group showed statistically significant higher mean age (positive vs. negative, 33.0 vs. 23.0 months; P= 0.003) and peak body temperature than the negative group (positive vs. negative, 39.1°C vs. 38.6°C; P = 0.030). Despite the lack of significance, COVID-19 positive group showed longer seizure time, multiple seizure episodes, and higher prevalence of complex febrile seizure.
Conclusion
The frequency of COVID-19 associated febrile seizure increased in the omicron periods. In addition, in this period, children with febrile seizure diagnosed with COVID-19 had a higher mean age and higher peak body temperature.
3.Expert opinion on evidence after 2020 Korean Cardiopulmonary Resuscitation Guidelines
Sung Phil CHUNG ; Youdong SOHN ; Jisook LEE ; Youngsuk CHO ; Kyoung-Chul CHA ; Ju Sun HEO ; Ai-Rhan Ellen KIM ; Jae Guk KIM ; Han-Suk KIM ; Hyungoo SHIN ; Chiwon AHN ; Ho Geol WOO ; Byung Kook LEE ; Yong Soo JANG ; Yu Hyeon CHOI ; Sung Oh HWANG ;
Journal of the Korean Society of Emergency Medicine 2023;34(4):287-296
Considerable evidence has been published since the 2020 Korean Cardiopulmonary Resuscitation Guidelines were reported. The International Liaison Committee on Resuscitation (ILCOR) also publishes the Consensus on CPR and Emergency Cardiovascular Care Science with Treatment Recommendations (CoSTR) summary annually. This review provides expert opinions by reviewing the recent evidence on CPR and ILCOR treatment recommendations. The authors reviewed the CoSTR summary published by ILCOR in 2021 and 2022. PICO (population, intervention, comparator, outcome) questions for each topic were reviewed using a systemic or scoping review methodology. Two experts were appointed for each question and reviewed the topic independently. Topics suggested by the reviewers for revision or additional description of the guidelines were discussed at a consensus conference. Forty-three questions were reviewed, including 15 on basic life support, seven on advanced life support, two on pediatric life support, 11 on neonatal life support, six on education and teams, one on first aid, and one related to coronavirus disease 2019 (COVID-19). Finally, the current Korean CPR Guideline was maintained for 28 questions, and expert opinions were suggested for 15 questions.
6.Adrenocortical carcinoma and a sporadic MEN1 mutation in a 3-year-old girl: a case report
Sung Eun KIM ; Na Yeong LEE ; Won Kyoung CHO ; Jisook YIM ; Jae Wook LEE ; Myungshin KIM ; Jae Hee CHUNG ; Min Ho JUNG ; Byung-Kyu SUH ; Moon Bae AHN
Annals of Pediatric Endocrinology & Metabolism 2022;27(4):315-319
Childhood adrenocortical carcinoma (ACC) is a rare disease that is mostly linked to familial cancer syndrome. Although the prevalence of ACC is extremely low in children, it is clinically important to diagnose ACC early because age and tumor stage are closely related to prognosis. From this perspective, understanding the underlying genetics and possible symptoms of ACC is crucial in managing ACC with familial cancer syndromes. In this report, we present the case of a 3-year-old girl who initially presented with symptoms of precocious puberty and was later found to have ACC by imaging analysis. On genetic analysis, the patient was found to have a MEN1 gene mutation. MEN1 mutations are found in patients with multiple endocrine neoplasia type 1 (MEN1), usually precipitating multiple endocrine tumors, including pituitary adenoma, parathyroid hyperplasia, and adrenal tumors. Although MEN1 mutation is usually inherited in an autosomal dominant manner, neither of the patient’s parents had the same mutation, making hers a case of sporadic MEN1 mutation with initial presentation of ACC. The clinical course and further investigations of this patient are discussed in detail in this report.
7.Comparison of the Clinical Characteristics of Pediatric Poisoning Patients Who Visited Emergency Department Before and During the COVID-19 Pandemic
Jeewoon PARK ; Woochan JEON ; Yura KO ; Yoo Jin CHOI ; Heewon YANG ; Jisook LEE
Journal of Korean Medical Science 2022;37(47):e337-
Background:
We aimed to investigate changes in the clinical characteristics of pediatric poisoning patients who visited the emergency department (ED) before and during the coronavirus disease 2019 (COVID-19) pandemic.
Methods:
Poisoning cases below age 18 who visited the ED from January 2018 to December 2021 were retrospectively analysed. The study period was then divided into pre-COVID-19 and COVID-19 pandemic to compare poisoning patterns.
Results:
During the study period, 86,153 visits to the pediatric ED had been recorded, with 625 patients being included the final analysis. During the COVID-19 period, the proportion of poisoned patients increased from 0.62% to 0.98%. The average age of the patients was higher in the COVID-19 period, with 53.4% of the cases being intentional (pre-COVID-19, 32.5%; P < 0.001). Moreover, 70.4% of poisoning cases during the COVID-19 period were caused by drugs (pre-COVID-19, 60.6%; P = 0.038). More patients underwent decontamination and laboratory investigation during the COVID-19 period than during the previous period (P= 0.007 and P < 0.001, respectively). The length of ED stay and the proportion of hospitalisation were significantly greater during the COVID-19 period. After analysing accidental poisoning cases, we found that antipyreticsonsteroidal anti-inflammatory drugs and respiratory drugs were more common in the pre-COVID-19 group, whereas iron/vitamins, cardiovascular drugs and hormones were more common in the COVID-19 group. After analysing intentional poisoning cases, we found that 73.6% and 76.4% of the patients in the pre-COVID-19 and COVID-19 group had a history of psychiatric disease, respectively. Although no difference was observed in the frequency of previous first suicide attempts, 19.0% of the patients in the COVID-19 group attempted suicide more than three times.
Conclusion
During the COVID-19 pandemic, intentional poisoning cases, especially in adolescence, increased and were treated more. Many of the patients with intentional poisoning had a history of mental illness or suicide in the past. Therefore, it seems that policy consideration for mentally vulnerable adolescents during this new pandemic period is necessary.
8.Comparison of Base Deficit and Vital Signs as Criteria for Hemorrhagic Shock Classification in Children with Trauma
Yura KO ; Jung Heon KIM ; Kyungjin HWANG ; Jisook LEE ; Yo HUH
Yonsei Medical Journal 2021;62(4):352-358
Purpose:
Base deficit (BD) is superior to vital signs in predicting trauma outcomes in adults. The authors aimed to compare BD and vital signs as criteria for the four-tiered hemorrhagic shock classification in children with trauma.
Materials and Methods:
We retrospectively reviewed the data of 1046 injured children who visited a Korean academic hospital from 2010 through 2018. These children were classified separately based on BD (class I, BD ≤2.0 mmol/L; II, 2.1–6.0 mmol/L; III, 6.1–10 mmol/L; and IV, ≥10.1 mmol/L) and vital signs (<13 years: age-adjusted hypotension and tachycardia, and Glasgow Coma Scale; 13–17 years: the 2012 Advanced Trauma Life Support classification). The two methods were compared on a class-by-class basis regarding the outcomes: mortality, early transfusion (overall and massive), and early surgical interventions for the torso or major vessels.
Results:
In total, 603 children were enrolled, of whom 6.6% died. With the worsening of BD and vital signs, the outcome rates increased stepwise (most p<0.001; only between surgical interventions and vital signs, p=0.035). Mortality more commonly occurred in BD-based class IV than in vital signs-based class IV (58.8% vs. 32.7%, p=0.008). Early transfusion was more commonly performed in BD-based class III than in vital signs-based class III (overall, 73.8% vs. 53.7%, p=0.007; massive, 37.5% vs. 15.8%, p=0.001). No significant differences were found in the rates of early surgical interventions between the two methods.
Conclusion
BD can be a better predictor of outcomes than vital signs in children with severe hemorrhagic shock.
9.Clinical Assessments and MRI Findings Suggesting Early Surgical Treatment for Patients with Medial Epicondylitis
Hyungin PARK ; Seok HAHN ; Jisook YI ; Jin-Young BANG ; Youngbok KIM ; Hyung Kyung JUNG ; Jiyeon BAIK
Journal of the Korean Radiological Society 2021;82(3):613-625
Purpose:
To evaluate the MRI findings and clinical factors that are characteristic of patients who ultimately undergo surgery for medial epicondylitis.
Materials and Methods:
Fifty-two consecutive patients who were diagnosed with medial epicondylitis and underwent an elbow MRI between March 2010 and December 2018 were included in this retrospective study. The patients’ demographic information, clinical data, and MRI findings were evaluated. All variables were compared between the conservative treatment and surgical treatment groups. Logistic regression analyses were conducted to identify which factors were associated with surgical treatment.
Results:
Common flexor tear (CFT) tear size showed a statistically significant difference in both the transverse and longitudinal planes (p < 0.001, p = 0.013). The CFT abnormality grade significantly differed in both the transverse and longitudinal planes (p = 0.022, p = 0.003). A significant difference was also found in the medial collateral ligament abnormality (p = 0.025). Logistic regression analyses showed that only the transverse diameter of the CFT tear size (odds ratio:1.864; 95% confidence interval: 1.264–2.750) was correlated with surgical treatment.
Conclusion
Of patients diagnosed with medial epicondylitis, patients with a larger transverse CFT tear size tend to undergo surgical treatment ultimately.
10.Anti-Myelin Oligodendrocyte Glycoprotein Syndrome with Findings Resembling “Snake-Eye Appearance”: a Case Report
Sujin HONG ; Jisook YI ; Ho-joon LEE ; Seok HAHN ; Yun-jung LIM ; Yedaun LEE ; Kyong Jin SHIN
Investigative Magnetic Resonance Imaging 2021;25(3):189-192
Anti-myelin oligodendrocyte glycoprotein (anti-MOG) syndrome is an immunemediated inflammatory condition of the central nervous system, which usually involves spinal cord and optic nerves. Herein, we studied the case of a 57-yearold female patient who presented with acute/subacute symptoms of sphincter dysfunction, paraparesis, and ocular pain. The patient was diagnosed with anti-MOG syndrome with findings resembling snake-eye appearance (SEA), characterized by nearly symmetrical round high signal intensity lesions located at anterior horns (gray matter) on T2-weighted image.

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