Purpose: We used next-generation sequencing (NGS) to investigate the genetic causes of suspected genetic short stature in 37 patients, and we describe their phenotypes and various genetic spectra. Methods: We reviewed the medical records of 50 patients who underwent genetic testing using NGS for suspected genetic short stature from June 2019 to December 2022. Patients with short stature caused by nongenetic factors or common chromosomal abnormalities were excluded. Thirty-seven patients from 35 families were enrolled in this study. We administered one of three genetic tests (2 targeted panel tests or whole exome sequencing) to patients according to their phenotypes. Results: Clinical and molecular diagnoses were confirmed in 15 of the 37 patients, for an overall diagnostic yield of 40.5%. Fifteen pathogenic/likely pathogenic variants were identified in 13 genes (ACAN, ANKRD11, ARID1B, CEP152, COL10A1, COL1A2, EXT1, FGFR3, NIPBL, NRAS, PTPN11, SHOX, SLC16A2). The diagnostic rate was highest in patients who were small for their gestational age (7 of 11, 63.6%). Conclusion Genetic evaluation using NGS can be helpful in patients with suspected genetic short stature who have clinical and genetic heterogeneity. Further studies are needed to develop patient selection algorithms and panels containing growth-related genes.

Purpose: The duties of paramedics and emergency medical technicians (P&EMTs) are continuously changing due to developments in medical systems. This study presents evaluation goals for P&EMTs by analyzing their work, especially the tasks that new P&EMTs (with less than 3 years’ experience) find difficult, to foster the training of P&EMTs who could adapt to emergency situations after graduation. Methods: A questionnaire was created based on prior job analyses of P&EMTs. The survey questions were reviewed through focus group interviews, from which 253 task elements were derived. A survey was conducted from July 10, 2023 to October 13, 2023 on the frequency, importance, and difficulty of the 6 occupations in which P&EMTs were employed. Results: The P&EMTs’ most common tasks involved obtaining patients’ medical histories and measuring vital signs, whereas the most important task was cardiopulmonary resuscitation (CPR). The task elements that the P&EMTs found most difficult were newborn delivery and infant CPR. New paramedics reported that treating patients with fractures, poisoning, and childhood fever was difficult, while new EMTs reported that they had difficulty keeping diaries, managing ambulances, and controlling infection. Conclusion Communication was the most important item for P&EMTs, whereas CPR was the most important skill. It is important for P&EMTs to have knowledge of all tasks; however, they also need to master frequently performed tasks and those that pose difficulties in the field. By deriving goals for evaluating P&EMTs, changes could be made to their education, thereby making it possible to train more capable P&EMTs.

Purpose: Next-generation sequencing (NGS)-based tumor panel testing has been reimbursed by the Korean government since 2017. We evaluated the use of NGS-based tumor panel testing in real-world clinical practice, focusing on molecular profiling (MP)-guided breast cancer treatment. Methods: A total of 137 breast cancer patients underwent NGS panel testing between December 2017 and July 2020 at Seoul National University Bundang Hospital (SNUBH).Samples from patients were profiled using an in-house SNUBH pan-cancer panel. Sixty-four patients were profiled on SNUBH Pan_Cancer v1.0, targeting 89 genes, while 73 patients were profiled on SNUBH Pan_Cancer v2.0, targeting 546 genes. Results: Breast cancer subtypes included hormone receptor+/human epidermal growth factor receptor 2 (HER2)− (n = 87), triple-negative (n = 44), and HER2+ (n = 6). Most patients had locally advanced or metastatic cancers (92%). Approximately 92% (126/137) of the patients had significant genomic alterations (tiers I and II), and 62% (85/137) had targetable genomic alterations. The most common targetable genomic alterations were PIK3CA (39%) and ESR1 mutations (9%), followed by ERBB2 (7%), PTEN (7%), BRCA2 (6%), and BRCA1 mutations (4%). Of the 81 patients with locally advanced/metastatic breast cancer with targetable genomic alterations, 6 (7.4%) received MP-guided treatments, including PARP inhibitor (n = 4), ERBB2-directed therapy (n = 1), and PI3K inhibitor (n = 1). Among these 6 patients, 4 participated in clinical trials, 1 underwent treatment at their own expense, and 1 received drugs through an expanded access program. The remaining 66 patients (81%) with targetable genomic alteration did not receive MP-guided treatment due to lack of matched drugs and/or clinical trials, poor performance status, and/or financial burden. Conclusion NGS panel testing allowed MP-guided treatment in only 4.7% (6/127) of patients with advanced breast cancer in a real-world setting. The availability of matched drugs is critical for the realistic implementation of personalized treatment.

Purpose: This study aims to determine nursing students’ orientation toward patient-centered care (PCC) and identify its influencing factors: their personality traits, empathy, and psychological capital (PsyCap). A mediating model was used to test the role of PsyCap in the association between empathy and PCC. Methods: This cross-sectional study included 300 nursing students from seven universities in South Korea. Their orientation toward PCC was measured using the Patient-Practitioner Orientation Scale (PPOS). Moreover, we analyzed the data using independent t-tests, ANOVA, Pearson's r, and SPSS PROCESS macro. Results: The overall mean score on the PPOS was 3.82±0.43, with the Caring and Sharing subscales accounting for 3.95±0.68 and 3.69±0.50, respectively. Nursing students’ satisfaction with their majors, practicums, and motivation for choosing this profession was significantly related to Caring-not Sharing. Nevertheless, PsyCap positively influenced both Caring (β=.24, p<.001) and Sharing (β=.18, p=.002). While empathy failed to significantly impact both Caring (β=.12, p=.087) and Sharing (β=.01, p=.931). PsyCap mediated the association of empathy with Caring (β=.20, p=.004); however, the same was not true for Sharing (β=.07, p=.366). Conclusion The findings indicate that the orientation of Korean nursing students toward PCC is not high. Therefore, to improve the PPOS Caring subscale, nurse educators should formulate better strategies to enhance nursing students’ satisfaction with their major and practicums, empathy, and PsyCap. The importance of sharing health-related information with patients and family caregivers should be emphasized in the nursing curriculum.

Purpose: Breast cancer is mainly diagnosed using core needle biopsy (CNB), although other biopsy methods, including vacuum-assisted biopsy (VAB), may also be used. We compared differences in clinical characteristics and prognoses of patients with breast cancer according to biopsy methods used for diagnosis. Methods: A total of 98,457 patients who underwent various biopsy methods (CNB, fine-needle aspiration [FNA], VAB, and excisional biopsy) for diagnosing breast cancer were recruited. Using CNB as a reference, related clinicopathological factors and prognostic differences between biopsy methods were analyzed retrospectively using large-scale data from the Korean Breast Cancer Society Registration System. The associations between biopsy methods and clinicopathological factors were compared using multinomial logistic regression analysis, and the prognoses of patients undergoing the different biopsy methods, as breast cancer-specific survival (BCSS) and overall survival (OS), were compared using the Kaplan-Meier method and Cox proportional hazard model. Results: Univariate and multivariate analyses showed that unlike FNA, both VAB and excisional biopsy were significantly associated with tumor size, palpability, tumor stage, and histologic grade as relatively good prognostic factors compared to CNB. In particular, VAB showed lower odds ratios for these factors than excisional biopsy. In the univariate analysis, the prognosis of patients undergoing VAB was better than that of those undergoing CNB with respect to BCSS (hazard ratio [HR], 0.188, p < 0.001) and OS (HR, 0.359; p < 0.001). However, in the multivariate analysis, there were no significant prognostic differences from CNB in both BCSS and OS; differences were only evident for FNA. Conclusion In this study, we showed that the characteristics of breast cancer differed according to various biopsy methods. Although VAB is not a standard method for breast cancer diagnosis, it showed no prognostic differences to CNB.

Purpose: This study aimed to predict a heavy nodal burden (≥3 metastatic axillary lymph nodes [LNs]) using axillary ultrasonography (US) and US-guided fine-needle aspiration biopsy (FNAB) in patients with early-stage breast cancer. Methods: We retrospectively reviewed the medical records of 403 women (404 cancers) who underwent US-guided FNAB for axillary LN staging from January 2006 to December 2015. US findings and US-guided FNAB results were reviewed and compared using pathology results as the reference. Diagnostic performance was analyzed, and clinicopathological and radiological findings were compared between patients with <3 metastatic LNs and ≥3 metastatic LNs. Results: The final pathology results revealed that 20.5% of cancers had heavy nodal metastases. US-guided FNAB showed significantly higher sensitivity (79.0% vs. 63.0%, P=0.009) and specificity (84.8% vs. 79.3%, P=0.036) in predicting heavy nodal metastases than did US. The presence of a larger number of suspicious LNs (two or more) on axillary US and positive FNAB results were significantly correlated with a heavy nodal burden in the multivariate analysis. The odds ratios were 4.20 (95% confidence interval [CI], 1.90 to 9.39) for two suspicious LNs, 9.40 (95% CI, 2.99 to 29.54) for three or more suspicious LNs, and 14.22 (95% CI, 6.78 to 29.82) for positive FNAB results. Conclusion The number of suspicious LNs detected on axillary US and FNAB results can help predict a heavy axillary nodal burden in patients with early-stage breast cancer.

Purpose: The purpose of this study was to explore the lived experience of body alteration and body image with regard to immediate breast reconstruction among women with breast cancer. Methods: Data were collected from July to December 2020 through individual in-depth interviews with 15 women who had undergone immediate breast reconstruction due to breast cancer. Verbatim transcripts were analyzed using Colaizzi’s phenomenological analysis. Results: The following four theme clusters emerged. First, “revalued meaning of breasts due to cancer” illustrated the fact that cancer removal surgery brought the participants to reconsider the meaning of their breasts. Second, “had no choice but breast reconstruction” demonstrated the participants’ decision-making process of not wanting to lose breasts. Third, “unsatisfied breasts despite reconstruction” portrayed the distress due to the unexpected surgical outcomes. Finally, “restarted everyday routines with the altered body” described the healing process of the participants by accepting their changed body. Conclusion In Korea, where family-centeredness and fidelity are highly valued, women perceived their breasts not only as a symbol of femininity but as the mediator connecting the self to family. Despite the distress related to imperfect breasts, the participants were thankful for their reconstructed breasts. Breast reconstruction helped them return to daily life as the psychological trauma of breast cancer was healed. The participants rebuilt their body image by accepting their scarred new body. This may allow health professionals to provide constructive and culturally appropriate counseling in advance by providing insight into women’s perception of their body image with regard to breast reconstruction.

Purpose: The purpose of this study was to explore the lived experience of body alteration and body image with regard to immediate breast reconstruction among women with breast cancer. Methods: Data were collected from July to December 2020 through individual in-depth interviews with 15 women who had undergone immediate breast reconstruction due to breast cancer. Verbatim transcripts were analyzed using Colaizzi’s phenomenological analysis. Results: The following four theme clusters emerged. First, “revalued meaning of breasts due to cancer” illustrated the fact that cancer removal surgery brought the participants to reconsider the meaning of their breasts. Second, “had no choice but breast reconstruction” demonstrated the participants’ decision-making process of not wanting to lose breasts. Third, “unsatisfied breasts despite reconstruction” portrayed the distress due to the unexpected surgical outcomes. Finally, “restarted everyday routines with the altered body” described the healing process of the participants by accepting their changed body. Conclusion In Korea, where family-centeredness and fidelity are highly valued, women perceived their breasts not only as a symbol of femininity but as the mediator connecting the self to family. Despite the distress related to imperfect breasts, the participants were thankful for their reconstructed breasts. Breast reconstruction helped them return to daily life as the psychological trauma of breast cancer was healed. The participants rebuilt their body image by accepting their scarred new body. This may allow health professionals to provide constructive and culturally appropriate counseling in advance by providing insight into women’s perception of their body image with regard to breast reconstruction.

Background: The main barrier to the effective rheumatoid arthritis (RA) therapy is poor adherence. Coronavirus disease 2019 (COVID-19) pandemic have led to a significant change in the pattern and the number of medical visits. We assessed changing patterns of medical visits and no-show, and identified factors associated with no-show in patients with RA during COVID-19 pandemic. Methods: RA patients treated with disease-modifying antirheumatic drugs at least 6 months who had been in remission or those with mild disease activity were observed for 6 months from February to July 2020. No-show was defined as a missed appointment that was not previously cancelled by the patient and several variables that might affect no-show were examined. Results: A total of 376 patients and 1,189 appointments were evaluated. Among 376 patients, 164 patients (43.6%) missed appointment more than one time and no-show rate was 17.2% during COVID-19 pandemic. During the observation, face-to-face visits gradually increased and no-show gradually decreased. The logistic regression analysis identified previous history of no-show (adjusted odds ratio [OR], 2.225; 95% confidence interval [CI], 1.422–3.479; P < 0.001) and fewer numbers of comorbidities (adjusted OR, 0.749; 95% CI, 0.584–0.961; P = 0.023) as the independent factors associated with no-show. Conclusion Monthly analysis showed that the no-show rate and the pattern of medical visits gradually changed in patients with RA during COVID-19 pandemic. Moreover, we found that previous history of no-show and fewer numbers of comorbidities as the independent factors associated with no-show.