Background: Achieving a definitive genetic diagnosis of unexplained multiple congenital anomalies (MCAs) in neonatal intensive care units (NICUs) infants is challenging because of the limited diagnostic capabilities of conventional genetic tests. Although the implementation of whole genome sequencing (WGS) has commenced for diagnosing MCAs, due to constraints in resources and faculty, many NICUs continue to utilize chromosomal microarray (CMA) and/or karyotyping as the initial diagnostic approach. We aimed to evaluate the diagnostic efficacy of WGS in infants with MCAs who have received negative results from karyotyping and/or CMA. Methods: In this prospective study, we enrolled 80 infants with MCAs who were admitted to a NICU at a single center and had received negative results from CMA and/or karyotyping.The phenotypic characteristics were classified according to the International Classification of Diseases and the Human Phenotype Ontology. We assessed the diagnostic yield of trioWGS in infants with normal chromosomal result and explored the process of diagnosing by analyzing both phenotype and genotype. Also, we compared the phenotype and clinical outcomes between the groups diagnosed with WGS and the undiagnosed group. Results: The diagnostic yield of WGS was 26% (21/80), of which 76% were novel variants.There was a higher diagnostic yield in cases of craniofacial abnormalities, including those of the eye and ear, and a lower diagnostic yield in cases of gastrointestinal and genitourinary abnormalities. In addition, higher rates of rehabilitation therapy and gastrostomy were observed in WGS-diagnosed infants than in undiagnosed infants. Conclusion This prospective cohort study assessed the usefulness of trio-WGS following chromosomal analysis for diagnosing MCAs in the NICU and revealed improvements in the diagnostic yield and clinical utility of WGS.

OBJECTIVES: We estimated the population prevalence of antibodies to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), including unreported infections, through a Korea Seroprevalence Study of Monitoring of SARS-CoV-2 Antibody Retention and Transmission (K-SEROSMART) in 258 communities throughout Korea. METHODS: In August 2022, a survey was conducted among 10,000 household members aged 5 years and older, in households selected through two stage probability random sampling. During face-to-face household interviews, participants self-reported their health status, COVID-19 diagnosis and vaccination history, and general characteristics. Subsequently, participants visited a community health center or medical clinic for blood sampling. Blood samples were analyzed for the presence of antibodies to spike proteins (anti-S) and antibodies to nucleocapsid proteins (anti-N) SARS-CoV-2 proteins using an electrochemiluminescence immunoassay. To estimate the population prevalence, the PROC SURVEYMEANS statistical procedure was employed, with weighting to reflect demographic data from July 2022. RESULTS: In total, 9,945 individuals from 5,041 households were surveyed across 258 communities, representing all basic local governments in Korea. The overall population-adjusted prevalence rates of anti-S and anti-N were 97.6% and 57.1%, respectively. Since the Korea Disease Control and Prevention Agency has reported a cumulative incidence of confirmed cases of 37.8% through July 31, 2022, the proportion of unreported infections among all COVID-19 infection was suggested to be 33.9%. CONCLUSIONS The K-SEROSMART represents the first nationwide, community-based seroepidemiologic survey of COVID-19, confirming that most individuals possess antibodies to SARS-CoV-2 and that a significant number of unreported cases existed. Furthermore, this study lays the foundation for a surveillance system to continuously monitor transmission at the community level and the response to COVID-19.

Background: Macrosomia, as an infant with birth weight over 4 kg, can have several perinatal, and neonatal complications. This study aimed to estimate the incidence of macrosomia in Korea and to identify the growth and developmental outcomes and other neonatal complications. Methods: In total, 397,203 infants who were born in 2013 with birth weight ≥ 2.5 kg and who underwent infant health check-up between their 1 st and 7 th visit were included from the National Health Insurance Service database. The information was obtained by the International Classification of Diseases-10 codes or self-reported questionnaires in the National Health Screening Program. Results: The distribution of infants by birth weight was as follows: 384,181 (97%) infants in the 2.5–3.99 kg (reference) group, 12,016 (3%) infants in the 4.0–4.49 kg group, 772 (0.2%) infants in the 4.5–4.99 kg group, and 78 (0.02%) infants in the ≥ 5 kg group. Macrosomia showed significantly higher incidence of sepsis, male sex, and mothers with GDM and birth injury. There was a significant difference in weight, height, and head circumference according to age, birth weight group, and combination of age and birth weight, respectively (P < 0.001). The number of infants with the weight above the 90 th percentile in macrosomia at each health check-up showed higher incidence than in reference group. The mean body mass index significantly differed among the groups, as 50.6 in infants with 2.5–3.99 kg of birth weight, 63.5 with 4.0–4.49 kg, 71.0 with 4.5–4.99 kg, and 73.1 with ≥ 5 kg. There was a significant difference in the incidence of poor developmental results between infants with macrosomia and the reference group at 24, 36 and 48 month of age. Conclusion Macrosomia was significantly associated with the risk of sepsis, birth injury, obesity and developmental problem especially in a boy born from mothers with gestational diabetes mellitus. Careful monitoring and proper strategies for monitoring growth and development are needed.

Following reports of patients with unexplained pneumonia at the end of December 2019 in Wuhan, China, the causative agent was identified as coronavirus (SARS-CoV-2), and the 2019 novel coronavirus disease was named COVID-19 by the World Health Organization. Putative patients with COVID-19 have been identified in South Korea, and attempts have been made to isolate the pathogen from these patients.

Community-based health management policies are needed considering societal aging. We aimed to develop a transitional care model (TCM) program for patients with pneumonia, asthma, and chronic obstructive pulmonary disease. First, we conducted in-depth interviews with patients who were hospitalized, released, and readmitted for those three conditions to identify issues with the current hospitalization/discharge system and post-discharge processes. Next, we developed a new TCM program suited to the realities of the current medical environment. Interviews revealed problems including inadequate awareness of disease and health management; insufficient information exchange between patients, caregivers, and primary medical institutions; and absence/low usage of community-based care services. The investigation applying the new TCM program to patients and following up on readmission rates and life satisfaction after discharge is ongoing. Reviewing these results and conducting further studies in the future will allow improvements to the model.

With the increasing use of the internet and the spread of smartphones, health information seekers obtain considerable information through the internet. As the amount of online health information increases, the need for quality management of health information has been emphasized. The purpose of this study was to investigate the factors affecting the intention of using accredited online health information by applying the extended technology acceptance model (Extended-TAM). An online survey was conducted from September 15, 2016 to October 3, 2016, on 500 men and women aged 19–69 years. The results showed that the greatest factor influencing the acceptance of the accredited health information was perceived usefulness, and the expectation for the quality of the accreditation system was the most important mediator variable. In order to establish the health information accreditation system as a means to provide easy and useful information to the consumers, it is necessary to carry out quality management and promote the system through the continuous monitoring of the accreditation system.
Accreditation ; Female ; Humans ; Intention ; Internet ; Male ; Smartphone

Most of the congenital diaphragmatic hernia (CDH) cases are diagnosed at prenatal period or immediately after birth with severe respiratory symptom. The classic triad, which is respiratory distress, apparent dextrocardia and a scaphoid abdomen, is usually seen in this period. Several case reports have described older infants and children with a wide spectrum of symptoms of CDH, whereas extremely few cases were reported in neonatal period except classic triad such as straungulation of the bowel. These atypical manifestations can lead physician to delayed diagnosis. We report two cases of CDH newborns. First case was diagnosed with pneumoperitoneum following tension pneumothorax, transient diaphragm eventration on 5 days after birth. The other case was diagnosed with failure to thrive and mediastinal mass on 30 days after birth. These cases suggest physicians to consider CDH in late newborn period with pneumoperitoneum following tension pneumothorax, transient diaphragm eventration, failure to thrive, and mediastinal mass.
Abdomen ; Child ; Delayed Diagnosis ; Dextrocardia ; Diaphragmatic Eventration ; Failure to Thrive ; Hernia, Diaphragmatic* ; Humans ; Infant ; Infant, Newborn* ; Parturition ; Pneumoperitoneum ; Pneumothorax

Radiation risk has become well known through epidemiological studies of clinically or occupationally exposed populations, animal experiments, and in vitro studies; however, the study of radiation related or induced disease has been limited in Korea. This study is to find the level of occupational radiation exposure for various kinds of accidents, compensated occupational diseases, related studies, and estimations on future occupational disease risks. Research data of related institutions were additionally investigated. About 67% of 62,553 radiation workers had no exposure or less than 1.2 mSv per year. The 5 reported cases on radiation accident patients in Korea occurred during nondestructive testing. According to the recent rapid increase in the number of workers exposed to radiation, a higher social recognition of cancer, and an increasing cancer mortality rate, it is expected that occupational disease compensation will rapidly increase as well. Therefore, it is important to develop scientific and objective decision methods, such as probability of causation and screening dose in the establishment of an exposure and health surveillance system.
Female ; Humans ; Male ; Neoplasms, Radiation-Induced/*epidemiology ; Nuclear Power Plants ; Occupational Diseases/*epidemiology/etiology ; Occupational Exposure ; Radiation Injuries/*epidemiology ; *Radiation, Ionizing ; Radioactive Hazard Release/*statistics & numerical data ; Republic of Korea/epidemiology

OBJECTIVE: To investigate the musculoskeletal symptoms of migrant workers. We focused on the relationship between job stress and musculoskeletal symptoms. METHOD: A questionnaire was administered to 502 migrant workers who visited NGO migrant worker centers located in Gyung-gi province. A structured, self-reported questionnaire was administered to participants in order to capture the following information: sociodemographics, health factors including past medical history, work related characteristics, job stress, and musculoskeletal symptoms. The job stress questionnaires were used according to KOSS-26 and musculoskeletal symptoms were measured using KOSHA Code H-30-2003. We used multiple logistic regression analysis to assess the relationship between risk factors which included job stress, and musculoskeletal symptoms. RESULTS: The prevalence rate of musculoskeletal symptoms in survey subjects was 35.1%. Other than job stress factors, past medical history was the only factor that had a statistical relationship to musculoskeletal symptoms (P<0.01). In the domains of job stress, physical environment (OR 1.62, 95% CI: 1.03~2.54), job demand (OR 2.43, 95% CI: 1.46~4.03), job insecurity (OR 1.59, 95% CI: 1.03~2.47), occupational climate (OR 2.30, 95% CI: 1.27~4.19) were most likely experience musculoskeletal symptoms. CONCLUSION: The job stress factor appeared to correlate more with musculoskeletal symptoms than with sociodemographics or other factors. Hence, in order to prevent migrant worker's musculoskeletal symptoms, we believe that intervention in job stress (physical environment, job demand, job insecurity, occupational climate) is necessary.
Climate ; Humans ; Logistic Models ; Prevalence ; Questionnaires ; Risk Factors ; Transients and Migrants

BACKGROUND: It is well-known that organic solvents can cause various neurologic toxicities, and in particular, it had been reported that Parkinson's syndrome can be caused by organic solvents. CASE REPORT: A 53-year-old man who had worked for 13 years as a shipyard spray and brush painter and manifested with moderate cognitive disorder and was diagnosed with chronic toxic encephalopathy. We can assume he had had considerable exposure to organic solvents considering the estimates of the amounts of organic solvents in his work place. He had no specific medical history. The Minnesota Multiphasic Personality Inventory (MMPI) showed mild cognitive deficit, depression, and anxiety. Single Photon Emission Computed Tomography (SPECT) indicated a slightly decreased flow at the edge of the left temporal brain area, while T2 brain Magnetic Resonance Imaging (MRI) showed no specific signs except for ischemic changes in small vessels in the periventricular and subcortical white matter. He was also diagnosed with both carpal tunnel syndrome and peripheral neuropathy through a neuroconductive study. Several years later, he developed progressive bradykinesia and rigidity and, later, resting tremors in the left hand. He was diagnosed with Parkinson's disease and treated with dopaminergic agents, but there was no effect. After that, he was given deep brain stimulation, both. As a result, his tremor is improved. but, the rigidity remained. Three years later, He has continuously received dopaminergic therapy. but, he complains about tremors in both hands and more greatly reduced cognitive function. CONCLUSION: In this case, we assumed by patient's work history and exposure estimates that he was exposed to excessive levels of organic solvents. The clinical symptoms of this patient were very similar to those from Parkinson's disease, but the psychological symptom appeared earlier than the other symptoms and there was no response to dopaminergic agents. We conclude that this case is likely Parkinson's syndrome caused by organic solvents.
Anxiety ; Brain ; Carpal Tunnel Syndrome ; Deep Brain Stimulation ; Depression ; Dopamine Agents ; Hand ; Humans ; Hypogonadism ; Hypokinesia ; Magnetic Resonance Imaging ; Middle Aged ; Mitochondrial Diseases ; MMPI ; Neurotoxicity Syndromes ; Ophthalmoplegia ; Parkinson Disease ; Peripheral Nervous System Diseases ; Solvents ; Tomography, Emission-Computed, Single-Photon ; Tremor ; Workplace