1.Sex development disorder with discordant chromosome karyotype and gene detection:a case report and literature review
Yan-Lin REN ; Ya-Li LI ; Kun LI ; Fan ZHANG ; Li-Min RONG ; Xiao-Ping YU ; Jun GU ; Yan-Hua KANG ; Ying HE
Medical Journal of Chinese People's Liberation Army 2025;50(1):50-56
Objective To report the diagnosis,treatment,and verification process of a patient with sex development disorder whose chromosomal karyotype and genetic test results are inconsistent,and conduct a literature review to improve the understanding of the mosaic status of sexual development disorders.Methods A 14-year-old patient presented with primary amenorrhea on April 3,2020,at the First Affiliated Hospital of Hebei North University,exhibiting female sexual characteristics.The patient underwent ultrasonic/magnetic resonance imaging of gonads,assessment of gonadal axis function,chromosomal karyotype,and molecular genetic testing,as well as pelvic exploration,malignant gonads resection,and hormone replacement therapy,resulting in drug-induced menstruation.During the diagnosis and treatment,it was found that the patient's chromosomal karyotype analysis was inconsistent with the molecular genetic test results.Subsequently,samples from the three germ layer cells were taken,and fluorescence in situ hybridization(FISH)was used to detect the sex chromosomes in each germ layer cell.XY probes were used to label the gonadal pathological sections to explore the distribution differences of the Y chromosome in the gonads,and changes in anti-Müllerian hormone(AMH)levels before and after surgery were compared.Databases such as Wanfang and PubMed were searched to summarize relevant cohort study literature and understand the current status of research on this disease.Results The patient's body exhibited a significant differences between the 45,X and 46,XY cell lines in different germ layers and within the same layer tissues.The proportion of 45,X in buccal mucosal cells derived from the ectoderm was 30%(6/20),in peripheral blood lymphocytes derived from the mesoderm was 9.7%(11/114),and in bladder shed cells derived from endoderm was 20.4%(22/108).The gonadal pathological sections labeled with XY probes indicated a mosaic state with a reduced Y-chromosome;where the epididymal structure area had a 45,X cell line mosaic of 50.0%,and the malignant area had a normal"Y"content.After gonadal resection,AMH levels significantly dropped from 7.28 pmol/L to<0.07 pmol/L.Literature review revealed that patients with 45,X/46,XY have a complex phenotype spectrum,most with features of Turner syndrome,and female phenotypes are at risk of gonadal tumors.Conclusions In the diagnosis of difficult cases of sex development disorders,when performing peripheral blood karyotype testing,the number of counted cells and analyzed cells should be increased as much as possible,and multi-germ layer cell sampling should be performed.Gonads with a high"Y"mosaic rate are more prone to malignancy in the abdominal cavity.Detecting AMH levels can distinguish cryptorchidism and anorchidism in sexual development disorders with Y chromosomes.
2.Research on the Extraction of Elements of Complex Scenarios of Medical Surge and the Logical Deduction of Evolution
Tian YU ; Nan MENG ; Yiran GAO ; Min WEI ; Yanping WANG ; Lili JIANG ; Xin ZHANG ; Ning NING ; Zheng KANG ; Avdeev SERGEY ; Qunhong WU
Chinese Hospital Management 2025;45(11):11-16,21
Objective Exploring the components of complex scenarios of healthcare surges triggered by major epidemics to provide a theorical basis for building resilience in healthcare organizations.Methods A hybrid analysis method is used to summarize macro-meso-micro multi-level and multi-source heterogeneous information,extract the elements of complex scenarios of medical surge and evaluate the rationality.Fault Tree Analysis method is used to clarify the logical relationship between various scenario elements and construct scenario reasoning paths.Results 10 scenario states,11 disaster-bearing,24 emergency management and 23 scenario results are summarized and extracted to form the key elements of complex surge scenarios.Among them,M4 expansion and coordinated scheduling of key positions,B2 conventional drug inventory emergency/insufficient core treatment drugs,B emergency medical material transportation breakage,S3 disease symptom spectrum shift to severe disease,R13 prevention and control awareness laxity,and M5 media information dissemination management are the key driving factors that promote a major turning point in the scenario.The most positive scenario result is the orderly operation of the medical service system,and the most negative scenario result is the paralysis of the medical service system.Conclusion Medical institutions need to improve emergency plans based on the complex evolution scenarios of medical surges and agile governance capabilities targeting key turning points,focus on dynamically expanding and scheduling personnel in key positions,strengthen material rotation and reserve mechanisms,maintain smooth emergency logistics channels,and improve efficient management of media and public opinion,so as to comprehensively improve overall resilience.
3.Gaps and Similarities in Research Use LOINC Codes Utilized in Korean University Hospitals: Towards Semantic Interoperability for Patient Care
Kuenyoul PARK ; Min-Sun KIM ; YeJin OH ; John Hoon RIM ; Shinae YU ; Hyejin RYU ; Eun-Jung CHO ; Kyunghoon LEE ; Ha Nui KIM ; Inha CHUN ; AeKyung KWON ; Sollip KIM ; Jae-Woo CHUNG ; Hyojin CHAE ; Ji Seon OH ; Hyung-Doo PARK ; Mira KANG ; Yeo-Min YUN ; Jong-Baeck LIM ; Young Kyung LEE ; Sail CHUN
Journal of Korean Medical Science 2025;40(1):e4-
Background:
The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings.
Methods:
We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes.
Results:
A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%).
Conclusion
This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.
4.Gaps and Similarities in Research Use LOINC Codes Utilized in Korean University Hospitals: Towards Semantic Interoperability for Patient Care
Kuenyoul PARK ; Min-Sun KIM ; YeJin OH ; John Hoon RIM ; Shinae YU ; Hyejin RYU ; Eun-Jung CHO ; Kyunghoon LEE ; Ha Nui KIM ; Inha CHUN ; AeKyung KWON ; Sollip KIM ; Jae-Woo CHUNG ; Hyojin CHAE ; Ji Seon OH ; Hyung-Doo PARK ; Mira KANG ; Yeo-Min YUN ; Jong-Baeck LIM ; Young Kyung LEE ; Sail CHUN
Journal of Korean Medical Science 2025;40(1):e4-
Background:
The accuracy of Logical Observation Identifiers Names and Codes (LOINC) mappings is reportedly low, and the LOINC codes used for research purposes in Korea have not been validated for accuracy or usability. Our study aimed to evaluate the discrepancies and similarities in interoperability using existing LOINC mappings in actual patient care settings.
Methods:
We collected data on local test codes and their corresponding LOINC mappings from seven university hospitals. Our analysis focused on laboratory tests that are frequently requested, excluding clinical microbiology and molecular tests. Codes from nationwide proficiency tests served as intermediary benchmarks for comparison. A research team, comprising clinical pathologists and terminology experts, utilized the LOINC manual to reach a consensus on determining the most suitable LOINC codes.
Results:
A total of 235 LOINC codes were designated as optimal codes for 162 frequent tests.Among these, 51 test items, including 34 urine tests, required multiple optimal LOINC codes, primarily due to unnoted properties such as whether the test was quantitative or qualitative, or differences in measurement units. We analyzed 962 LOINC codes linked to 162 tests across seven institutions, discovering that 792 (82.3%) of these codes were consistent. Inconsistencies were most common in the analyte component (38 inconsistencies, 33.3%), followed by the method (33 inconsistencies, 28.9%), and properties (13 inconsistencies, 11.4%).
Conclusion
This study reveals a significant inconsistency rate of over 15% in LOINC mappings utilized for research purposes in university hospitals, underlining the necessity for expert verification to enhance interoperability in real patient care.
5.Changes in Dental Caries Risk among Middle School Students Using an ICT-Based Caries Management Program
An-Na YEO ; Yu-Min KANG ; Su-Young LEE
Journal of Dental Hygiene Science 2025;25(1):42-50
Background:
Dental caries is a prevalent public health problem among adolescents that significantly affects their quality of life. The Caries Management by Risk Assessment (CAMBRA) model provides a structured, risk-based approach for caries prevention and management. This study evaluated the effectiveness of the CAMBRA-students mobile application, integrated with an information and communication technology (ICT) based intervention, in modifying caries risk factors in middle school students.
Methods:
A non-equivalent control group pretest-posttest design was used. A total of 131 middle school students aged 13∼14 years participated. The experimental group (n=68) received a risk-based intervention using the CAMBRA-student mobile application for 1 year, while the control group (n=63) received only standard oral health education and underwent pre- and post-tests. Data on caries risk factors; protective factors; disease indicators; and decayed, missing, and filled teeth rates were collected. Paired and independent t-tests were conducted to analyze changes within and between groups.
Results:
The rate of change in the caries risk classification before and after the intervention differed between the groups. In the control group, 50% of the low-risk participants were at a high-risk after 12 months. In the intervention group, 90% of the low-risk participants shifted to the high-risk category, and those classified as extremely high-risk moved to the high-risk category. When comparing changes in the caries risk assessment before and after the intervention, both groups demonstrated a significant increase in protective factors (p<0.001). However, disease indicators increased significantly in the control, whereas no significant change was noted in the intervention group.
Conclusion
This study evaluated the effectiveness of an ICT-based caries management program for middle school students and confirmed changes in protective factors and specific oral health behaviors through personalized interventions. Future studies should investigate the long-term sustainability of such interventions across diverse populations to further establish their effectiveness.
6.Korean Practice Guidelines for Gastric Cancer 2024: An Evidence-based, Multidisciplinary Approach (Update of 2022 Guideline)
In-Ho KIM ; Seung Joo KANG ; Wonyoung CHOI ; An Na SEO ; Bang Wool EOM ; Beodeul KANG ; Bum Jun KIM ; Byung-Hoon MIN ; Chung Hyun TAE ; Chang In CHOI ; Choong-kun LEE ; Ho Jung AN ; Hwa Kyung BYUN ; Hyeon-Su IM ; Hyung-Don KIM ; Jang Ho CHO ; Kyoungjune PAK ; Jae-Joon KIM ; Jae Seok BAE ; Jeong Il YU ; Jeong Won LEE ; Jungyoon CHOI ; Jwa Hoon KIM ; Miyoung CHOI ; Mi Ran JUNG ; Nieun SEO ; Sang Soo EOM ; Soomin AHN ; Soo Jin KIM ; Sung Hak LEE ; Sung Hee LIM ; Tae-Han KIM ; Hye Sook HAN ; On behalf of The Development Working Group for the Korean Practice Guideline for Gastric Cancer 2024
Journal of Gastric Cancer 2025;25(1):5-114
Gastric cancer is one of the most common cancers in both Korea and worldwide. Since 2004, the Korean Practice Guidelines for Gastric Cancer have been regularly updated, with the 4th edition published in 2022. The 4th edition was the result of a collaborative work by an interdisciplinary team, including experts in gastric surgery, gastroenterology, endoscopy, medical oncology, abdominal radiology, pathology, nuclear medicine, radiation oncology, and guideline development methodology. The current guideline is the 5th version, an updated version of the 4th edition. In this guideline, 6 key questions (KQs) were updated or proposed after a collaborative review by the working group, and 7 statements were developed, or revised, or discussed based on a systematic review using the MEDLINE, Embase, Cochrane Library, and KoreaMed database. Over the past 2 years, there have been significant changes in systemic treatment, leading to major updates and revisions focused on this area.Additionally, minor modifications have been made in other sections, incorporating recent research findings. The level of evidence and grading of recommendations were categorized according to the Grading of Recommendations, Assessment, Development and Evaluation system. Key factors for recommendation included the level of evidence, benefit, harm, and clinical applicability. The working group reviewed and discussed the recommendations to reach a consensus. The structure of this guideline remains similar to the 2022 version.Earlier sections cover general considerations, such as screening, diagnosis, and staging of endoscopy, pathology, radiology, and nuclear medicine. In the latter sections, statements are provided for each KQ based on clinical evidence, with flowcharts supporting these statements through meta-analysis and references. This multidisciplinary, evidence-based gastric cancer guideline aims to support clinicians in providing optimal care for gastric cancer patients.
7.Effects of Pancreatitis and Type 2 Diabetes Mellitus on the Development of Pancreatic Cancer: A Nationwide Nested Case-Control Study
Young-eun KIM ; Min Heui YU ; Chung Mo NAM ; Eun Seok KANG
Diabetes & Metabolism Journal 2025;49(2):252-263
Background:
Despite diabetes mellitus (DM) and pancreatitis being known risk factors for pancreatic cancer, patients with these conditions are not included in pancreatic cancer screening due to the low incidence of pancreatic cancer in these populations. This study aimed to determine the high-risk subgroup of patients with diabetes and pancreatitis that would benefit from pancreatic cancer screening.
Methods:
A nested case-control study was conducted using data from the National Health Information Database of the Korean National Health Insurance Service. Patients were categorized into the following groups: type 2 diabetes mellitus only (T2DM-only), pancreatitis-only (PAN-only), T2DM followed by pancreatitis (T2DM-PAN), post-pancreatitis diabetes mellitus (PPDM), and no diabetes and no pancreatitis (NDNP). Conditional logistic regression was used to determine significant associations of each group with pancreatic cancer development risk.
Results:
The risk of pancreatic cancer was significantly higher in the T2DM-PAN (adjusted odds ratio [AOR], 4.96; 95% confidence interval [CI], 4.48 to 5.49) and PPDM (AOR, 4.71; 95% CI, 4.12 to 5.37) groups than in the NDNP group. Compared to patients in the NDNP group, those with PPDM using insulin had a 17-fold increased risk (AOR, 16.72; 95% CI, 9.50 to 29.43), and individuals with PPDM who had diabetes for less than 3 years had a more than 8-fold increased risk of pancreatic cancer (AOR, 8.83; 95% CI, 5.99 to 13.01).
Conclusion
In patients with post-pancreatitis diabetes, insulin use or shorter duration of diabetes was associated with a higher risk of pancreatic cancer, suggesting that patients in these subgroups may require close monitoring for pancreatic cancer development.
9.Effects of Pancreatitis and Type 2 Diabetes Mellitus on the Development of Pancreatic Cancer: A Nationwide Nested Case-Control Study
Young-eun KIM ; Min Heui YU ; Chung Mo NAM ; Eun Seok KANG
Diabetes & Metabolism Journal 2025;49(2):252-263
Background:
Despite diabetes mellitus (DM) and pancreatitis being known risk factors for pancreatic cancer, patients with these conditions are not included in pancreatic cancer screening due to the low incidence of pancreatic cancer in these populations. This study aimed to determine the high-risk subgroup of patients with diabetes and pancreatitis that would benefit from pancreatic cancer screening.
Methods:
A nested case-control study was conducted using data from the National Health Information Database of the Korean National Health Insurance Service. Patients were categorized into the following groups: type 2 diabetes mellitus only (T2DM-only), pancreatitis-only (PAN-only), T2DM followed by pancreatitis (T2DM-PAN), post-pancreatitis diabetes mellitus (PPDM), and no diabetes and no pancreatitis (NDNP). Conditional logistic regression was used to determine significant associations of each group with pancreatic cancer development risk.
Results:
The risk of pancreatic cancer was significantly higher in the T2DM-PAN (adjusted odds ratio [AOR], 4.96; 95% confidence interval [CI], 4.48 to 5.49) and PPDM (AOR, 4.71; 95% CI, 4.12 to 5.37) groups than in the NDNP group. Compared to patients in the NDNP group, those with PPDM using insulin had a 17-fold increased risk (AOR, 16.72; 95% CI, 9.50 to 29.43), and individuals with PPDM who had diabetes for less than 3 years had a more than 8-fold increased risk of pancreatic cancer (AOR, 8.83; 95% CI, 5.99 to 13.01).
Conclusion
In patients with post-pancreatitis diabetes, insulin use or shorter duration of diabetes was associated with a higher risk of pancreatic cancer, suggesting that patients in these subgroups may require close monitoring for pancreatic cancer development.

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