Good’s syndrome is a rare cause of combined B- and T-cell immunodeficiency in adults with a history of thymectomy. The patients with Good’s syndrome are susceptible to encapsulated bacterial infections and opportunistic viral/fungal infections. We report a 63-year-old female patient who was diagnosed with cerebral toxoplasmosis in the middle of monthly immunoglobulin treatment for Good’s syndrome. She was referred owing to progressive dizziness for one week without any neurologic deficits. Although routine laboratory tests and toxoplasma serology exams were within the normal range, brain image studies suggested cerebral toxoplasmosis, which was confirmed by pathology of brain lesions. She was treated with pyrimethamine and sulfadiazine as well as with systemic corticosteroids, and improved without sequelae. Later, her medication was switched to trimethoprim/sulfamethoxazole as a second-line treatment due to sulfadiazine-related neuropathy.

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: Early identification of patients with high-risk papillary thyroid microcarcinoma (PTMC) that is likely to progress has become a critical challenge. We aimed to identify somatic mutations associated with lateral neck lymph node (LN) metastasis (N1b) in patients with PTMC. Methods: Whole-exome sequencing (WES) of 14 PTMCs with no LN metastasis (N0) and 13 N1b PTMCs was performed using primary tumors and matched normal thyroid tissues. Results: The mutational burden was comparable in N0 and N1b tumors, as the median number of mutations was 23 (range, 12 to 46) in N0 and 24 (range, 12 to 50) in N1b PTMC (P=0.918). The most frequent mutations were detected in PGS1, SLC4A8, DAAM2, and HELZ in N1b PTMCs alone, and the K158Q mutation in PGS1 (four patients, Fisher’s exact test P=0.041) was significantly enriched in N1b PTMCs. Based on pathway analysis, somatic mutations belonging to the receptor tyrosine kinase-RAS and NOTCH pathways were most frequently affected in N1b PTMCs. We identified four mutations that are predicted to be pathogenic in four genes based on Clinvar and Combined Annotation-Dependent Depletion score: BRAF, USH2A, CFTR, and PHIP. A missense mutation in CFTR and a nonsense mutation in PHIP were detected in N1b PTMCs only, although in one case each. BRAF mutation was detected in both N0 and N1b PTMCs. Conclusion This first comprehensive WES analysis of the mutational landscape of N0 and N1b PTMCs identified pathogenic genes that affect biological functions associated with the aggressive phenotype of PTMC.

BACKGROUND: Studies on the relationship between thyroid function and anemia in the euthyroid range are scarce. We aimed to evaluate the association between anemia and serum free thyroxine (fT4) and thyrotropin (TSH) in euthyroid adults. METHODS: Data on 5,352 participants aged ≥19 years were obtained from the Korea National Health and Nutrition Examination Survey VI (2013 to 2015). Anemia was defined as hemoglobin (Hb) <13 and <12 g/dL for men and women, respectively. RESULTS: Overall, 6.1% of participants had anemia, and more women (9.9%) had anemia than men (2.8%, P<0.001). In multivariate analysis, serum fT4 levels, but not TSH, were positively associated with serum Hb levels in both sexes (P<0.001, each). Serum Hb levels linearly reduced across decreasing serum fT4 quartile groups in both sexes (P<0.001, each). After adjusting for potential confounding factors, participants with low-normal fT4 had 4.4 (P=0.003) and 2.8 times (P<0.001) higher risk for anemia than those with high-normal fT4 among men and women, respectively. When participants were divided into two groups at 50 years of age, in younger participants, men and women with the first quartile were at higher risk of anemia than men with the second quartile (odds ratio [OR], 3.3; P=0.029) and women with the forth quartile (OR, 3.2; P<0.001), respectively. This association was not observed in older participants. CONCLUSION These results suggest that a low-normal level of serum fT4 was associated with a lower serum Hb level and a higher risk of anemia in euthyroid adults, especially in younger participants.

PURPOSE: This study examined the mediating effects of self-esteem and resilience on the relationship between internalized stigma and quality of life in people with schizophrenia.METHODS: The participants were 123 people with schizophrenia (mean age = 41.87 years; 62.6% men) recruited from Soonchunhyang university hospital, a mental health center, and daytime rehabilitation facilities located in Seoul and Gyeonggi Province in South Korea. Using a cross-sectional survey, participants completed structured questionnaires with psychometric adequacy. The regression method of Baron and Kenny was used to test the mediating effects of self-esteem and resilience on the relationship between internalized stigma and quality of life.RESULTS: Self-esteem and resilience were found to be full and partial mediators, respectively, in the relationship between internalized stigma and quality of life.CONCLUSION: The findings of this study imply that effective future intervention strategies should target improvements in self-esteem and resilience to reduce the negative impact of internalized stigma on the quality of life of people with schizophrenia.
Cross-Sectional Studies ; Gyeonggi-do ; Korea ; Mental Health ; Methods ; Negotiating ; Psychometrics ; Quality of Life ; Rehabilitation ; Resilience, Psychological ; Schizophrenia ; Seoul ; Social Stigma

PURPOSE: The aim of this study was to examine the effect of self-assertive training applying the reality therapy techniques (SATART) on self-esteem and internalized stigma of schizophrenia patients. METHODS: This study was a non-equivalent control group pretest-posttest design and enrolled 55 people with schizophrenia (experimental group=27, control group=28) from two community mental health centers. The SATART was offered twice a week for 6 weeks in a total 12 sessions. Data were collected from February to April, 2017, using the Korean version of the Internalized Stigma of Mental Illness Scale and Rosenberg Self-Esteem Scale. The collected data was analyzed using χ2 test, independent t-test, one-way ANCOVA, and repeated measures ANOVA with using the SPSS/WIN 22.0 program. RESULTS: The experimental group showed significant improvements in self-esteem and recudction of internalized stigma compared to the control group. However, there was no significant improvement on stigma resistance measurement among the subscales of internalized stigma between two groups. CONCLUSION: The findings indicate that the SATART program is effective and could be recommended as a psychosocial intervention for self-esteem enhancement and internalized stigma reduction of people with schizophrenia.
Assertiveness ; Community Mental Health Centers ; Humans ; Reality Therapy ; Schizophrenia ; Self Concept ; Social Stigma

PURPOSE: This study aimed to characterize the relationship between parental stress and nurses' communication as perceived by parents of high-risk newborns in a neonatal intensive care unit (NICU). METHODS: The participants were 54 parents of high-risk newborns in a NICU. Data were collected from January to March 2018. Parental stress and parents' perceptions of nurses' communication ability and styles were measured using a questionnaire. RESULTS: The average scores for parental stress and nurses' communication ability were 3.39 and 4.38 respectively, on a 5-point scale. Parents most commonly reported that nurses showed a friendly communication style, followed by informative and authoritative styles. Mothers and fathers reported significantly different levels of parental stress. Parental stress showed a negative correlation with nurses' perceived verbal communication ability. Higher scores for nurses' verbal communication ability and for friendly and informative communication styles were associated with lower parental stress induced by the environment, the baby's appearance and behaviors, and treatments in the NICU. CONCLUSION: The findings of this study suggest that nurses need to offer proper information for parents and to support parents by encouraging them to express their emotions of stress and by providing parents with therapeutic communication and opportunities to participate in care.
Communication ; Fathers ; Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; Intensive Care, Neonatal ; Mothers ; Parents ; Stress, Psychological

PURPOSE: The purpose of this study was to explore psychiatric nurses' decision making in the use of seclusion and restraint (SR). METHODS: Data were collected using focus group interviews. Two focus group interviews were held with a total of 10 psychiatric nurse participants. All interviews were recorded and transcribed, and data were analyzed using qualitative content analysis. RESULTS: Eleven categories emerged from three main themes. All the themes describe factors that participants took into account when deciding whether to implement SR: 1) Personal factors area: ‘Personal attributes of nurses,’ ‘Attitude of nurses regarding SR,’ ‘Nurses’ ‘physical and emotional states,’ ‘Negative experiences of nurses related to SR’; 2) Relational factors area: ‘The level of cooperation between nurses and doctors,’ ‘Role models created by seniors and colleagues,’ ‘The level of support by nursing assistants,’ ‘Therapeutic relations with patients’; and 3) Environmental factors area: ‘Poor nursing work environment,’ ‘Atmosphere of ward regarding SR,’ and ‘Social atmosphere to raise alarm about SR.’ CONCLUSION: These findings should be considered in the evaluation of the use of SR in psychiatric hospital settings and appropriate strategies used to help minimize the use of restraint.
Atmosphere ; Decision Making ; Focus Groups ; Hospitals, Psychiatric ; Humans ; Nursing ; Psychiatric Nursing ; Qualitative Research ; Restraint, Physical

The aim of this study was to observe the effects of prophylactic palivizumab on hospitalization secondary to respiratory syncytial virus (RSV) infection (RSVhospitalization) in former very low birth weight infants (VLBWI) with bronchopulmonary dysplasia (BPD). This study also sought to identify the risk factors of RSVhospitalizationin this particular infant population. A prospective observational study was conducted between September 2007 and April 2008 in seven Korean hospitals. Children with a history of very low birth weight, a diagnosis of BPD and who were <2 yr old at the onset of the RSV season were included in this study. Palivizumab injections were administered monthly for a maximum of five months during the RSV season. RSVhospitalization rates were reviewed, and RSVhospitalization rates between subgroups were categorized by gestational age, birth weight, and duration of ventilator care. A total of 90 subjects completed the follow-up interviews. The mean gestational age at birth was 26.1+/-1.7 weeks, and the mean birth weight was 889.4+/-222.2 g. The incidence of RSVhospitalization in the study population was 8.9% (8/90), and the mean hospital stay was 11.0+/-5.5 days, including one death. There were no statistically significant differences in the patients' demographic characteristics or risk factors for RSV hospitalization. When subgroup analyses were conducted, there were still no statistically significant differences. The administration of palivizumab prophylaxis during the entire RSV season is important in VLBWI with BPD, regardless of their gestational age and birth weight, or previous ventilator dependency.
Antibiotic Prophylaxis/*methods ; Antiviral Agents/*therapeutic use ; Birth Weight ; Bronchopulmonary Dysplasia/*complications ; Female ; Gestational Age ; Hospitalization/statistics & numerical data ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; *Infant, Very Low Birth Weight ; Length of Stay ; Male ; Palivizumab/*therapeutic use ; Prospective Studies ; Respiratory Syncytial Virus Infections/drug therapy/*epidemiology/prevention & control ; Respiratory Syncytial Viruses/drug effects ; Risk ; Risk Factors