Background: Retinitis pigmentosa (RP) comprises a heterogeneous group of inherited retinal dystrophies. The genetic landscape of RP has been characterized; however, knowledge gaps regarding age-specific genetic variation trends in Korean patients remain. We comprehensively characterized the age-stratified genetic landscape of RP in Korean patients, with a focus on identifying novel mutational trends and clinically actionable insights. Methods: We performed targeted next-generation sequencing of 199 genes associated with RP and related disorders in a cohort of 403 unrelated patients clinically diagnosed as having RP. We analyzed the inheritance patterns, variation spectrum, and prevalence of pathogenic variants, stratifying the results by age, and conducted copy number variation (CNV) analysis. Results: A genetic diagnosis was achieved for 193 of the 403 patients (48%). The diagnostic yield was highest in patients diagnosed before 20 yrs of age (60%), with lower yields in older age groups. Although USH2A and EYS, the most common causative genes in autosomal recessive inheritance, were frequently identified, RPGR pathogenic variants accounted for a significantly larger proportion of genetically solved cases diagnosed before the age of 20 yrs (27%–28%) than in those with later-onset disease (9%–15%). CNVs were identified in 4% of genetically solved cases. Conclusions The results underscore distinct, age-related genetic contributions to RP in Korean patients, with RPGR variants demonstrating relevance in early-onset disease, and provide diagnostic insights to improve current practices. These findings can aid in prioritizing gene therapy targets and refining screening strategies.

Objective: To compare two breast cancer screening strategies, digital mammography (DM) plus radiologist-interpreted automated breast ultrasound (ABUS) and DM plus selective ABUS review, in which only examinations positive for DM or flagged by ABUS artificial intelligence–computer-aided diagnosis (AI-CAD) were reviewed by radiologists. Materials and Methods: This retrospective study included asymptomatic women who underwent DM and ABUS screening for breast cancer between March 2022 and March 2023. The radiologists’ interpretations of DM and ABUS without AI assistance (DM + ABUS_radiologist) were collected from the clinical radiology reports. A selective DM plus ABUS reading strategy was simulated, in which only cases interpreted as positive in the radiologist’s DM report or flagged by retrospectively applied ABUS AI-CAD were triaged for further evaluation through a full review by radiologists (DM + ABUS_AI-CAD). The cancer detection rate (CDR), sensitivity, specificity, and abnormal interpretation rate (AIR) were calculated and compared between DM + ABUS_ radiologist and DM + ABUS_AI-CAD groups using the McNemar’s test. Results: Among 2,275 women (mean age, 56.1 ± 8.6 years), 12 cancers were diagnosed. The sensitivity, CDR and AIR for DM + ABUS_radiologist was 83.3% (10/12; 95% confidence interval [CI]: 51.6–97.9), 4.4 (10/2,275; 95% CI: 2.1–8.1) per 1,000 screening examinations and 16.7% (379/2,275; 95% CI: 15.1–18.3), respectively. DM + ABUS_AI-CAD triaged 84.0% (1,910/2,275) of the examinations as negative in both DM reports and retrospectively applied ABUS AI-CAD, requiring radiologist reassessment in only 16.0% (365/2,275). This approach reduced the AIR to 7.3% (167/2,275) and improved the specificity from 83.7% (1,894/2,263) to 93.1% (2,107/2,263) (all P < 0.001), while maintaining a CDR of 4.8 per 1,000 and a sensitivity of 91.7% (11/12) (all P > 0.999), compared to the DM + ABUS-radiologist. Conclusion An AI-CAD-assisted selective ABUS reading strategy reduces unnecessary recalls and improves specificity, which may help optimize reading priorities and reduce the reading workload while maintaining cancer detection performance.

Background: Daily usage of facial masks during coronavirus disease 2019 pandemic influenced on facial dermatoses. Objective: This study investigated the impact of mask-wearing habits on facial dermatoses. Methods: A nationwide, observational, questionnaire-based survey was conducted from July through August 2021, involving 20 hospitals in Korea. Results: Among 1,958 facial dermatoses, 75.9% of patients experienced aggravation or development of new-onset facial dermatoses after wearing masks. In aggravated or newly developed acne patients (543 out of 743), associated factors were healthcare provider, female gender, and a long duration of mask-wearing. Irritating symptoms, xerosis, and hyperpigmentation were more frequently observed in this group. Aggravated or newly developed rosacea patients (515 out of 660) were likely to be female, young, and have a long duration of mask-wearing per day. Seborrheic dermatitis patients who experienced aggravation or de novo development (132 out of 184) were younger, and they more frequently involved the chin and jaw in addition to the nasolabial folds and both cheeks. Contact dermatitis patients (132 out of 147) with aggravation or de novo development tended to be female, involve both cheeks, and complain of pruritus. Aggravated or newly developed atopic dermatitis patients (165 out of 224) were more likely to be female, and had a higher baseline investigator global assessment score before mask-wearing. Conclusion Clinical features and factors related to aggravation were different according to the types of facial dermatoses.

Background: More than half of acne patients have truncal acne on their chest, back, and shoulders. However, since most studies on acne have focused on the face, data on clinical characteristics and proper management for truncal acne are insufficient. Objective: To establish a Korean Acne Rosacea Society (KARS) consensus for experts’ perception and treatment patterns of truncal acne. Methods: We conducted two rounds of the Dephi technique to gather expert opinion and reach a consensus on truncal acne. The first round comprised 48 questionnaires focusing on various aspects such as epidemiology, clinical features, diagnosis, treatment, prognosis and more, while second rounds consisted of 26 questionnaires. Results: A total of 36 dermatologists (36/38 KARS members, 94.7%) completed this survey. In the first-round survey, consensus was reached on 20 out of the 48 questions (41.7%). In the secondround questionnaire, consensus was achieved on 9 of the 26 questions (34.6%). The most unresponsive lesion to truncal acne treatment was scars (atrophic/hypertrophic). The most commonly used treatments for each non-inflammatory and inflammatory truncal acne lesions were selected to use topical retinoids (78.1% of the responders) and oral antibiotics (93.8% of the responders). Conclusion Our study has yielded valuable insights into the epidemiology, clinical manifestations, diagnosis, treatment, and quality of life of patients with truncal acne. We anticipate that this study will inspire further comprehensive research for individuals with truncal acne.

Purpose: This phenomenological study aimed to comprehend the altered parenting experience of nurses during the coronavirus disease 2019 (COVID-19) pandemic.Method: Using a qualitative approach, the research design employed a phenomenological methodology. The participants were 6 nurses with elementary school-aged children. The nurses were employed in tertiary general hospitals, working on rotating shifts during the COVID-19 pandemic. In-depth interviews were conducted to collect individual data, which were then analyzed using Colaizzi phenomenological method. Results: Analyzing the collected data led to 178 significant results, from which 13 themes were derived. These 13 themes were further integrated into 5 distinct theme clusters: (1) struggling as a nurse-mom, (2) providing a supportive presence, (3) facing challenges in facilitating children's learning activities, (4) navigating parental roles in a chaotic situation, and (5) pursuing physical safety. These clusters were subsequently categorized into four overarching categories: “suffering,” which encompassed the themes of pressure of infection and providing a supportive presence, as well as “controlling,” “parenting,” and “seeking,” representing the remaining clusters, respectively. Conclusion The parenting experiences of shift nurses during the COVID-19 pandemic encompassed various aspects, including the challenges posed by the pressure of infection, the importance of providing a supportive presence, difficulties in managing children’s learning activities, navigating parental roles amid chaotic circumstances, and the pursuit of physical safety. These experiences significantly impact the stability of shift nurses’ caregiving abilities for both their patients and their children. Therefore, it is crucial to establish a comprehensive nationallevel care support system in times of disaster situations like the COVID-19 pandemic.

Background: The Korean Red Cross has conducted serologic tests for C, c, E, e antigens and found 18 D-- donors.In this study, we performed RHCE genotyping to identify the molecular characteristics of the serologic D-- blood type in Korean blood donors. Methods: We performed RHCE-specific PCR-based electrophoresis to check the amplification pattern of each exon.Sanger sequencing was conducted to find the variants in the nucleotide sequence. We determined the RHCE genotype based on the electrophoresis and Sanger sequencing results. Results: Total eight out of 18 D-- donors were participated in this research. In the PCR-based electrophoresis tests, RHCE exons 3, 4, and 6 were not amplified in samples #4, #6, and #8. Also, sample #2 showed an abnormal band pattern of RHCE exon 9. The Sanger sequencing results showed that the nucleotide sequences of the RHCE exons 5, 7, and 8 in samples #4, #6 and #8 corresponded to the nucleotide sequences of RHD exons 5, 7, and 8, respectively, suggesting the possibility of a RHCE-RHD(3-8)-RHCE hybrid allele. The nucleotide sequences of RHCE exons 7 and 8 in sample #2 were the same as the nucleotide sequences of RHD exons 7 and 8, respectively.In samples #1, #3, #5, and #7, no specific variants known to cause D-- phenotype were found. Conclusion RHCE genes partially replaced by the RHD genes were found in four out of eight participants and three of them were identified as ?RHCE*02N.07, which is known as the RHCE null allele. A further study with complete RHCE sequencing could be helpful for an understanding of the molecular mechanisms of samples in which no significant variants were identified.

Objectives: The purpose of this study was to identify whether stress experienced by those working in the local civil service was related to their oral health during the COVID-19 pandemic. Methods: A survey was conducted on 431 civil servants from eight districts, currently working in the Daegu City Hall had COVID-19 related work duties during the pandemic. Results: Several factors associated with oral health related quality of life were explored. Demographic details revealed that men had significantly better oral health related life quality as compared to women; further, being younger, being unmarried, and having a lower position had better outcomes for oral health related quality of life. Regarding the relationship between oral health behavior and oral health related quality of life, it was found that the better the subjective oral health, the higher the rate of not visiting the dentist in the past year. The COVID-19 pandemic has been a particularly important time to explore in order to understand how the stress experienced by local government officials is related to their oral health. It has been especially noted that the higher the work stress, the worse the oral health related quality of life amongst individuals. Conclusions Results of this study emphasize that at a time when fatigue among civil servants is increasing due to the prolonged COVID-19 pandemic, oral conditions caused by stress should be identified and greater awareness should be created about oral health care.

Purpose: Alpha-fetoprotein (AFP) is a prognostic marker for hepatocellular carcinoma (HCC). We investigated the prognostic value of AFP levels in patients who achieved complete response (CR) to transarterial chemoembolization (TACE) for HCC. Materials and Methods: Between 2005 and 2018, 890 patients with HCC who achieved a CR to TACE were recruited. An AFP responder was defined as a patient who showed elevated levels of AFP (>10 ng/mL) during TACE, but showed normalization or a >50% reduction in AFP levels after achieving a CR. Results: Among the recruited patients, 569 (63.9%) with naïve HCC and 321 (36.1%) with recurrent HCC after complete resection were treated. Before TACE, 305 (34.3%) patients had multiple tumors, 219 (24.6%) had a maximal tumor size >3 cm, and 22 (2.5%) had portal vein tumor thrombosis. The median AFP level after achieving a CR was 6.36 ng/mL. After a CR, 473 (53.1%) patients experienced recurrence, and 417 (46.9%) died [median progression-free survival (PFS) and overall survival (OS) of 16.3 and 62.8 months, respectively]. High AFP levels at CR (>20 ng/mL) were independently associated with a shorter PFS [hazard ratio (HR)=1.403] and OS (HR=1.284), together with tumor multiplicity at TACE (HR=1.518 and 1.666, respectively). AFP non-responders at CR (76.2%, n=359 of 471) showed a shorter PFS (median 10.5 months vs. 15.5 months, HR=1.375) and OS (median 41.4 months vs. 61.8 months, HR=1.424) than AFP responders (all p=0.001). Conclusion High AFP levels and AFP non-responders were independently associated with poor outcomes after TACE. AFP holds clinical implications for detailed risk stratification upon achieving a CR after TACE.

PURPOSE: The purpose of this study was to investigate hemato-oncology patients' discomfort and bleeding in relation to the bedrest time after bone marrow examination. METHODS: A descriptive correlational study was conducted. The data were collected using self-report questionnaire from total of 131 patients who underwent bone marrow examination from January 2017 to September 2017. Data were analyzed with descriptive statistics, Wilcoxon Signed-rank test, McNemar's test and logistic regression. RESULTS: The level of discomfort after 4 hours of bedrest was significantly higher when compared to 2 hours of bedrest(p<.001). The occurrence of bleeding after 2 hours of bedrest was significantly higher than 4 hours of bedrest(p<.001), however the degree of bleeding was slight. No bleeding occurred in 84% of the patients after 2 hours of bedrest. CONCLUSION: The results of this study demonstrated that shortening the bed rest time after bone marrow examination was helpful in improving the patient's well-being. Bedrest time could be shortened according to the site of bone marrow examination and patient's condition.
Bed Rest ; Bone Marrow Examination ; Bone Marrow ; Hemorrhage ; Humans ; Logistic Models

OBJECTIVE: We aimed to develop the clinical guideline for headache by the systematic review and synthesis of existing evidence-based guidelines. The purpose of developing the guideline was to improve the appropriateness of diagnosis and treatment of headache disorder, and consequently, to improve patients’ pain control and quality of life. The guideline broadly covers the differential diagnosis and treatment of tension-type headache, migraine, cluster headache, and medication-overuse headache. METHODS: This is a methodological study based on the ADAPTE methodology, including a systematic review of the literature, quality assessment of the guidelines using the Appraisal of Clinical Guidelines for REsearch & Evaluation II (AGREE II) Instrument, as well as an external review using a Delphi technique. The inclusion criteria for systematic search were as follows: topic-relevant, up-to-date guidelines including evidence from within 5 years, evidence-based guidelines, guidelines written in English or Korean, and guidelines issued by academic institutions or government agencies. RESULTS: We selected five guidelines and conducted their quality assessment using the AGREE II Instrument. As a result, one guideline was found to be eligible for adaptation. For 13 key questions, a total of 39 recommendations were proposed with the grading system and revised using the nominal group technique. CONCLUSION: Recommendations should be applied to actual clinical sites to achieve the ultimate goal of this guideline; therefore, follow-up activities, such as monitoring of guideline usage and assessment of applicability of the recommendations, should be performed in the future. Further assessment of the effectiveness of the guideline in Korea is needed.
Cluster Headache ; Delphi Technique ; Diagnosis ; Diagnosis, Differential ; Follow-Up Studies ; Government Agencies ; Headache Disorders ; Headache ; Korea ; Methods ; Migraine Disorders ; Quality of Life ; Tension-Type Headache