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Objective: To compare the progression of muscle fibrosis of various site and its relation between cardiac deterioration in Duchenne muscular dystrophy (DMD). In this study aimed to examine the associations between echocardiogram-based cardiac function indices and fibrosis of the abdominal and lower extremity muscles in patients with DMD to facilitate early detection of cardiac dysfunction and identify its predictors. Methods: Twenty-one patients with DMD patients were enrolled in the study. The association between cardiac dysfunction and fibrosis of the abdominal and lower extremity muscles was determined by analyzing the echocardiography and elastography. Non-parametric Spearman rank correlation coefficients were used to examine the pairwise relationships between cardiac function and muscle elasticity. Results: All patients were male and non-ambulant. Their mean age was 18.45±4.28 years. The strain ratios of the abdominal muscle and quadriceps muscles were significantly higher than those of the medial gastrocnemius. The strain ratio of the rectus abdominis muscle has a significant negative correlation with left ventricular ejection fraction. Cardiac function and valvular insufficiency were not significantly correlated with muscle strain ratio. According to the result of our study, the only skeletal muscle which showed significant correlation with cardiac dysfunction was degree abdominal muscle fibrosis. Conclusion: The degree of fibrosis of respiratory muscles was also significantly associated with cardiac dysfunction; therefore, it can be used as a predictor of cardiac dysfunction in patients with DMD in clinical practice. [ABSTRACT FROM AUTHOR]

Introduction: An easy-to-implement and accurate lung function assessment tool for preterm infants is crucial to manage lifelong respiratory morbidities. We aimed to determine which pulmonary function parameters in preterm infants can predict the trajectory of airway obstruction and asthma development after 4 years of age. Methods: We evaluated 52 preterm infants who had undergone both tidal breathing flow-volume loop (TBFVL) and multiple-breath washout (MBW) analyses in infancy and spirometry after the age of 4 years. We evaluated the association between pulmonary function parameters in infancy and childhood and the pulmonary function trajectory until 13 years of age and compared the changes in this trajectory according to pulmonary function parameters in infancy. Results: Time to peak expiratory flow/expiratory time (TPEF/TE) in infancy was associated with FEV1, FEF25-75, and dysanapsis ratio in childhood and differed according to level of airway obstruction assessed by FEV1, FEV1/FVC, and FEF25-75, an asthma development. TPEF/TE was a significant predictive factor for airway obstruction and asthma after 4 years of age, after adjusting for sex, extreme prematurity, duration of supplementary oxygen and mechanical ventilation, and recurrent wheezing during infancy. In premature infants with lower TPEF/TE, subsequent pulmonary function parameters remained low until 13 years of age. Conclusion: In preterm infants, TPEF/TE could be useful to predict airway obstruction and asthma after 4 years of age and even a lower pulmonary function trajectory until 13 years of age. This information may help clinicians to provide lifelong care for pulmonary morbidity in children and adolescents born preterm. [ABSTRACT FROM AUTHOR]

Background: Post-operative delirium (PD) is a common post-operative complication with significant clinical and financial impacts on patients. Erythropoietin (EPO), a multi-functional glycoprotein hormone, exhibits erythropoietic and non-erythropoietic anti-inflammatory properties. This study aimed to determine the role of perioperative EPO administration in the development of postoperative delirium in older adult patients undergoing total joint arthroplasty. Methods: Seventy-one patients (> 65 years old) scheduled for total joint arthroplasty were randomly assigned to two groups: EPO-treated (EPO, n = 35) and placebo (control, n = 36). All patients completed the Mini Mental State Examination (MMSE) pre-operatively and on post-operative day (POD) 2. The confusion assessment method (CAM) was used to assess the patients until discharge (POD 5). Serum C-reactive protein (CRP) and inflammatory cytokine levels were measured and compared pre- and post-operatively. The development of delirium and cognitive dysfunction was evaluated post-operatively. Results: One patient in the control group developed delirium on POD 2 (3.2%), whereas no patient in the EPO group developed PD (0% vs. 3.2%, p = 0.500). Post-operatively there was no significant difference in MMSE scores between groups. Both groups showed increases in pro- and anti-inflammatory cytokine levels, with no significant differences. Similarly, CRP levels, neutrophil/lymphocyte ratio (NLR), and platelet/lymphocyte ratio (PLR) showed no intergroup differences in post-operative inflammatory responses. Conclusions: Perioperative EPO reduced the incidence of post-operative delirium, although not statistically significant, with no differences in post-operative cognitive function and inflammatory responses. Trial registration: The trial was registered on December 12, 2023 at http//clinicaltrials.gov, registration number NCT06178835. [ABSTRACT FROM AUTHOR]

Distinguishing between pathologic complete response and residual cancer after neoadjuvant chemotherapy (NAC) is crucial for treatment decisions, but the current imaging methods face challenges. To address this, we developed deep-learning models using post-NAC dynamic contrast-enhanced MRI and clinical data. A total of 852 women with human epidermal growth factor receptor 2 (HER2)-positive or triple-negative breast cancer were randomly divided into a training set (n = 724) and a validation set (n = 128). A 3D convolutional neural network model was trained on the training set and validated independently. The main models were developed using cropped MRI images, but models using uncropped whole images were also explored. The delayed-phase model demonstrated superior performance compared to the early-phase model (area under the receiver operating characteristic curve [AUC] = 0.74 vs. 0.69, P = 0.013) and the combined model integrating multiple dynamic phases and clinical data (AUC = 0.74 vs. 0.70, P = 0.022). Deep-learning models using uncropped whole images exhibited inferior performance, with AUCs ranging from 0.45 to 0.54. Further refinement and external validation are necessary for enhanced accuracy. [ABSTRACT FROM AUTHOR]

A single session art therapy intervention for Korean-Ukrainians who sought refuge in South Korea integrated Psychological First Aid (PFA) protocols in response to the Russian invasion of Ukraine. The program incorporated the World Health Organization recommended tasks of "look, listen, and link" in a thoughtfully executed two-hour timeframe for adults and children. The program enabled participants to imagine safety, develop self and collective efficacy, and affirm connectedness and hope. From this program, art therapists can work within a PFA framework by emphasizing emotional expression as well as building connections and social networks. [ABSTRACT FROM AUTHOR]

The clinical and genetic characteristics of SYNGAP1 mutations in Korean pediatric patients are not well understood. We retrospectively analyzed 13 individuals with SYNGAP1 mutations from a longitudinal aspect. Clinical data, genetic profiles, and electroencephalography (EEG) patterns were examined. Genotypic analyses included gene panels and whole‐exome sequencing. All patients exhibited global developmental delay from early infancy, with motor development eventually reaching independent ambulation by 3 years of age. Language developmental delay varied significantly from nonverbal to simple sentences, which plateaued in all patients. Patients with the best language outcomes typically managed 2–3‐word sentences, corresponding to a developmental age of 2–3 years. Epilepsy developed in 77% of patients, with onset consistently following developmental delays at a median age of 31 months. Longitudinal EEG data revealed a shift from occipital to frontal epileptiform discharges with age, suggesting a correlation with synaptic maturation. These findings suggest that the critical developmental plateau occurs between the ages of 2 and 5 years and is potentially influenced by epilepsy. By analyzing longitudinal data, our study contributes to a deeper understanding of SYNGAP1‐related DEE, provides potential EEG biomarkers, and underlines the importance of early diagnosis and intervention to address this complex disorder. [ABSTRACT FROM AUTHOR]

Background/Objectives: The aim of this study was to investigate the effect of a custom neck collar with negative sensory feedback for the treatment of torticollis that was previously unresponsive to conservative or surgical treatment. Methods: Twenty-four children diagnosed with unresponsive or intractable torticollis were enrolled in this two-stage, single-arm study. The ipsilateral aspect of the orthosis is adjustable in height and designed to provide support between the clavicle and the mandibular angle on the tilted side. In stage 1 (the adjustment period), the orthosis with a smooth surface was applied for 2 h per day for 3 months. In stage 2, a rough surface with a hook-and-loop fastener (Velcro©) was attached to the collar, and it was worn for a further 2 h a day for 3 months. Twenty children (mean age 63.95 ± 13.44 months) were included in the analysis. Results: The mean torticollis angle was 17.60 ± 5.65° (mean ± SD) at baseline; 14.15 ± 3.62° directly after stage 1; and 6.00 ± 3.67° directly after stage 2 (X2 = 36.685, df = 19, p = 0.000). Conclusions: This study demonstrated the feasibility, therapeutic effect, and safety of a novel tactile feedback orthosis for the treatment of children with torticollis. The use of a custom neck collar with negative sensory feedback may be a viable therapeutic option for the treatment of unresolved or intractable torticollis. [ABSTRACT FROM AUTHOR]

Purpose: Rare diseases necessitate consistent access to specialized health services. In Korea, despite the growing socioeconomic burden, insufficient comprehensive research is available on patients with rare diseases and their families, particularly concerning factors influencing the length of time to diagnosis. The aim of this study was to thoroughly characterize rare pediatric diseases and explore factors impacting the diagnostic odyssey. Methods: The study enrolled patients under 15 years old seeking medical care at the Seoul National University Children’s Hospital Rare Disease Center between January 2022 and December 2023. Participating patients were required to have been diagnosed with one of the 1,248 rare diseases recognized in Korea. A 33-question survey was developed to assess clinical features of the patients, characteristics of their primary caregivers, and their perceptions of ongoing medical care. Results: The study included 101 patients and their families. Regarding perceived cognitive and motor functions, most families indicated moderate or severe limitations (cognitive, 62.4%; motor, 57.4%). Over half of the families (53.5%) reported discontinuing employment to provide patient care. Neurological symptoms represented the most common initial chief concern, with dermatologic symptoms and laboratory test abnormalities also noted. Three factors were associated with time to diagnosis: the number of hospitals visited, whether the districts of residence and diagnosis aligned, and the age at symptom onset. Conclusion: The comprehensive characterization of patients with rare diseases and their families in Korea, along with the identification of factors impacting the diagnostic odyssey, provides key insights for the development of a tailored support system. [ABSTRACT FROM AUTHOR]

Objectives: Cancer is a life-changing experience, and side effects from treatment can make it difficult for survivors to return to their pre-cancer "normal life." We explored the "new normal" and barriers to achieving it among lung cancer survivors who underwent surgery. Methods: Semi-structured interviews were conducted with 32 recurrence-free non–small cell lung cancer survivors. We asked survivors how life had changed; how they defined the "new normal"; barriers that prevent them from achieving a "normal" life; and unmet needs or support for normalcy. Thematic analysis was performed. Results: Defining "new normal" subjectively depends on an individual's expectation of recovery: (1) being able to do what they want without pain or discomfort; (2) being able to do activities they could accomplish before their surgery; and (3) being able to work, earn money, and support their family. We found that (1) persistent symptoms, (2) fear of cancer recurrence, (3) high expectations in recovery, and (4) psychosocial stress and guilty feelings were barriers to achieving a "new normal." The needs and support for normalcy were information on expected trajectories, postoperative management, and support from family and society. Significance of results: Survivors defined the "new normal" differently, depending on their expectations for recovery. Informing survivors about the "new normal" so they could expect possible changes and set realistic goals for their life after cancer. Health professionals need to communicate with survivors about expectations for "normality" from the beginning of treatment, and it should be included in comprehensive survivorship care. [ABSTRACT FROM AUTHOR]

Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms included 'hereditary breast and ovarian cancer' and 'cascade genetic testing' for studies published from 2012–2022. Through searching common databases, and manual search of references, 480 studies were identified after excluding duplications. Each article was reviewed by two researchers independently and 20 studies were included in the final analysis. CASP, RoBANS 2.0, RoB 2.0, and MMAT were used to assess the quality of included studies. A convergent data synthesis method was used to integrate evidence from quantitative and narrative data into categories and subcategories. Evidence points to 3 categories and 12 subcategories of psychosocial barriers and facilitators for cascade testing: (1) facilitators (belief in health protection and prevention; family closeness; decisional empowerment; family support, sense of responsibility; self-efficacy; supportive health professionals); (2) bidirectional concepts (information; perception of genetic/cancer consequences; negative emotions and attitude); and (3) barriers (negative reactions from family and negative family dynamics). Healthcare providers need to systematically evaluate these psychosocial factors, strengthen facilitators and alleviate barriers to promote informed decision-making for communication of genetic test results and uptake of genetic testing. Bidirectional factors merit special consideration and tailored approaches, as they can potentially have a positive or negative influence on family communication and uptake of genetic testing. [ABSTRACT FROM AUTHOR]

Background: While breast ultrasound (US) is a useful tool for diagnosing breast masses, it can entail false‐positive biopsy results because of some overlapping features between benign and malignant breast masses and subjective interpretation. Purpose: To evaluate the performance of conductivity imaging for reducing false‐positive biopsy results related to breast US, as compared to diffusion‐weighted imaging (DWI) and abbreviated MRI consisting of one pre‐ and one post‐contrast T1‐weighted imaging. Study Type: Prospective. Subjects: Seventy‐nine women (median age, 44 years) with 86 Breast Imaging Reporting and Data System (BI‐RADS) category 4 masses as detected by breast US. Field Strength/Sequence: 3‐T, T2‐weighted turbo spin echo sequence, DWI, and abbreviated contrast‐enhanced MRI (T1‐weighted gradient echo sequence). Assessment: US‐guided biopsy (reference standard) was obtained on the same day as MRI. The maximum and mean conductivity parameters from whole and single regions of interest (ROIs) were measured. Apparent diffusion coefficient (ADC) values were obtained from an area with the lowest signal within a lesion on the ADC map. The performance of conductivity, ADC, and abbreviated MRI for reducing false‐positive biopsies was evaluated using the following criteria: lowest conductivity and highest ADC values among malignant breast lesions and BI‐RADS categories 2 or 3 on abbreviated MRI. Statistical Tests: One conductivity parameter with the maximum area under the curve (AUC) from receiver operating characteristics was selected. A P‐value <0.05 was considered statistically significant. Results: US‐guided biopsy revealed 65 benign lesions and 21 malignant lesions. The mean conductivity parameter of the single ROI method was selected (AUC = 0.74). Considering conductivity (≤0.10 S/m), ADC (≥1.60 × 10−3 mm2/sec), and BI‐RADS categories 2 or 3 reduced false‐positive biopsies by 23% (15 of 65), 38% (25 of 65), and 43% (28 of 65), respectively, without missing malignant lesions. Data Conclusion: Conductivity imaging may show lower performance than DWI and abbreviated MRI in reducing unnecessary biopsies. Evidence Level: 2 Technical Efficacy: Stage 2 [ABSTRACT FROM AUTHOR]

Purpose: Tubulinopathy represents a group of disorders caused by variants in tubulin genes, which present with a wide spectrum of brain malformations. This study was conducted to provide insight into the phenotypic and genetic spectra of tubulinopathy within the Korean pediatric population. Methods: Among individuals who underwent genetic testing at a pediatric neurology clinic between June 2011 and December 2021, 15 patients with tubulin gene variants were retrospectively recruited. Clinical features, genetic information, and brain imaging findings were retrospectively reviewed. Results: The genetic spectra of the patients included TUBA1A (n=5, 33.3%), TUBB4A (n=6, 40.0%), TUBB3 (n=2, 13.3%), TUBB (n=1, 6.7%), and TUBB2A (n=1, 6.7%) variants. Two novel mutations were identified: a c.497A>G; p.(Lys166Arg) variant in TUBA1A and a c.907G>C; p.(Ala303Pro) variant in TUBB. All 15 patients exhibited developmental delays, with a broad spectrum of severity. Other common manifestations included microcephaly (n=10; 66.7%) and seizures (n=9; 60%). A review of the neuroimaging data revealed a range of findings that were both genotype-specific and overlapping across genotypes. In cases of TUBA1A mutation (n=5), four patients (80%) presented with pachygyria and polymicrogyria, while three (60%) displayed cerebellar hypoplasia and dysplasia. All patients with TUBB4A variants (n=6) exhibited hypomyelination, and three (50%) had cerebellar dysplasia. Conclusion: This study represents the first cohort analysis of tubulin gene mutations associated with tubulinopathy in a Korean pediatric population. It suggests that these mutations can produce a broad spectrum of neurodevelopmental and neuroimaging findings and should be considered within the differential diagnosis in relevant clinical scenarios. [ABSTRACT FROM AUTHOR]

WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related developmental phenotypes that we can model in zebrafish. The patient phenotypic spectrum includes developmental delay/intellectual disability, hypotonia, distinct craniofacial features and variable presence of brain, renal, cardiac and musculoskeletal abnormalities. We demonstrate that WDR44 variants associated with more severe disease impair ciliogenesis initiation and ciliary signaling. Because WDR44 negatively regulates ciliogenesis, it was surprising that pathogenic missense variants showed reduced abundance, which we link to misfolding of WDR autonomous repeats and degradation by the proteasome. We discover that disease severity correlates with increased RAB11 binding, which we propose drives ciliogenesis initiation dysregulation. Finally, we discover interdomain interactions between the WDR and NH2-terminal region that contains the RAB11 binding domain (RBD) and show patient variants disrupt this association. This study provides new insights into WDR44 WDR structure and characterizes a new syndrome that could result from impaired ciliogenesis. A vesicle trafficking Rab11 effector switch is important for ciliogenesis. Here, the authors report a ciliopathy-related disorder caused by variants in WDR44, a Rab11 effector. WDR44 variants show higher affinity for Rab11 and can impair ciliogenesis. [ABSTRACT FROM AUTHOR]

ISCA2 loss of function leads to leukodystrophy and developmental regression (multiple mitochondrial dysfunctions syndrome 4 (MMDS4)). We present a first Korean case of MMDS4 presenting with rapid developmental regression and leukodystrophy after febrile episode, mimicking post-infectious encephalitis. The patient had displayed normal development until 12 months of age. At 13 months of age, one month after experiencing a post-vaccination fever, she quickly progressed to being unable to sit unassisted nor speak any words. Analysis of the cerebrospinal fluid (CSF) revealed lympho-dominant pleocytosis. Amino acid analysis of both the serum and CSF demonstrated elevated glycine exclusively in the CSF. Diffuse leukodystrophy was noted in the brain magnetic resonance image. Whole exome sequencing revealed compound heterozygous ISCA2 variants of c.166T>G, p.C56G and c.422A>C, p.Q141P. No evidence of mitochondrial disease other than bilateral optic atrophy was noted. In cases of early onset rapid developmental regression with leukodystrophy, MMDS4 should be considered. [ABSTRACT FROM AUTHOR]

Clinical practice is an important educational tool for nursing students, and their emotions during clinical practice should be accurately understood. This study aimed to develop and verify the validity and reliability of a clinical practicum transition shock scale (CPT-shock) to measure Korean nursing students' emotional responses when transitioning from a theoretical learning process to clinical practice. This research design was a methodological study and the content, construct, criterion validity, and reliability of the items were verified. Content validity was evaluated by seven experts. The preliminary survey was conducted on 24 nursing students, and the factor analysis was conducted on 331 nursing students in various regions of Korea. Confirmatory factor analysis confirmed the model fit (χ2/df = 1.741, GFI = 0.930, AGFI = 0.902, NFI = 0.869, TLI = 0.923, CFI = 0.938, RMR = 0.035, RMSEA = 0.047) and established discrimination and convergence validity. Positive and negative correlations were found with existing transition shock (r = 0.779) and clinical practice adaptation (r = −0.505), respectively (p < 0.001), thus establishing criterion validity. The reliability was good, with a Cronbach's α of 0.85. The clinical practicum transition shock scale reflects nursing students' practice environment and is expected to accurately measure nursing students' unique emotional shock. [ABSTRACT FROM AUTHOR]

As biochar improves soil fertility and crop productivity, there is a growing interest in it as a resource for sustainable agriculture. Miscanthus sacchariflorus has promising applications in various industries because it has a large amount of biomass. However, research on the agricultural utilization of Miscanthus-derived biochar is insufficient. The aim of this study was to demonstrate the effects of Miscanthus biochar on the soil environment and soybean growth. First, Miscanthus biochar was amended at different levels (3 or 10 tons/ha) in upland soil, after which the soil properties, root development, and yield of soybeans were compared with the control (without biochar). In the soil amended with 10 tons/ha of biochar (BC10), organic matter (OM) and available phosphate increased 1.6 and 2.0 times, respectively, compared with that in the control soil (CON). In addition, the soil dehydrogenase activity increased by 70% in BC10, and 16S rRNA gene sequence analysis revealed that the structure of the microbial community changed after amendment with biochar. The bacterial phyla that differed between CON and BC10 were Acidobacteria and Chloroflexi, which are known to be involved in carbon cycling. Owing to these changes in soil properties, the root dry weight and number of nodules in soybeans increased by 23% and 27%, respectively, and the seed yield increased 1.5-fold in BC10. In conclusion, Miscanthus biochar increased the fertility of soybean-growing soil and consequently increased seed yield. This study is valuable for the practical application of biochar for sustainable agriculture. [ABSTRACT FROM AUTHOR]

We investigated the correlation between standardized uptake value (SUV) of 18F-fluorodeoxyglucose (FDG) positron emission tomography (PET)/computed tomography (CT) and conductivity parameters in breast cancer and explored the feasibility of conductivity as an imaging biomarker. Both SUV and conductivity have the potential to reflect the tumors' heterogeneous characteristics, but their correlations have not been investigated until now. Forty four women diagnosed with breast cancer who underwent breast MRI and 18F-FDG PET/CT at the time of diagnosis were included. Among them, 17 women received neoadjuvant chemotherapy followed by surgery and 27 women underwent upfront surgery. For conductivity parameters, maximum and mean values of the tumor region-of-interests were examined. For SUV parameters, SUVmax, SUVmean, and SUVpeak of the tumor region-of-interests were examined. Correlations between conductivity and SUV were evaluated, and among them, the highest correlation was observed between mean conductivity and SUVpeak (Spearman's correlation coefficient = 0.381). In a subgroup analysis for 27 women with upfront surgery, tumors with lymphovascular invasion (LVI) showed higher mean conductivity than those without LVI (median: 0.49 S/m vs 0.06 S/m, p < 0.001). In conclusion, our study shows a low positive correlation between SUVpeak and mean conductivity in breast cancer. Furthermore, conductivity showed a potential to noninvasively predict LVI status. [ABSTRACT FROM AUTHOR]

Purpose: To develop a prediction model incorporating clinicopathological information, US, and MRI to diagnose axillary lymph node (LN) metastasis with acceptable false negative rate (FNR) in patients with early stage, clinically node-negative breast cancers. Methods: In this single center retrospective study, the inclusion criteria comprised women with clinical T1 or T2 and N0 breast cancers who underwent preoperative US and MRI between January 2017 and July 2018. Patients were temporally divided into the development and validation cohorts. Clinicopathological information, US, and MRI findings were collected. Two prediction models (US model and combined US and MRI model) were created using logistic regression analysis from the development cohort. FNRs of the two models were compared using the McNemar test. Results: A total of 964 women comprised the development (603 women, 54 ± 11 years) and validation (361 women, 53 ± 10 years) cohorts with 107 (18%) and 77 (21%) axillary LN metastases in each cohort, respectively. The US model consisted of tumor size and morphology of LN on US. The combined US and MRI model consisted of asymmetry of LN number, long diameter of LN, tumor type, and multiplicity of breast cancers on MRI, in addition to tumor size and morphology of LN on US. The combined model showed significantly lower FNR than the US model in both development (5% vs. 32%, P <.001) and validation (9% vs. 35%, P <.001) cohorts. Conclusion: Our prediction model combining US and MRI characteristics of index cancer and LN lowered FNR compared to using US alone, and could potentially lead to avoid unnecessary SLNB in early stage, clinically node-negative breast cancers. [ABSTRACT FROM AUTHOR]

Four species of Erythrotrichia (E. biseriata, E. reflexa, E. tetraseriata, E. carnea) have been reported in Korea, but phylogenetic studies have not been conducted on them. We analyzed two newly collected Erythrotrichia isolates using rbcL DNA sequences and determined their species status using four DNA-based species delimitation methods. One isolate (KNU-1) grouped with E. carnea in three methods: Assemble Species by Automatic Partitioning, both single-threshold and multiple-threshold general mixed yule coalescent, but grouped as a distinct species in the statistical parsimony network analysis. A second isolate (KNU-2) was considered a distinct species in all the above species-delimitation methods. We propose the name, Erythrotrichia johnawestii sp. nov., for this new species. The new species was different from E. carnea in lacking a thick outer cell wall layer and with a smaller cell size. Mature monosporangia produced raised openings that released monospores. Cell walls were not detected in newly released monospores but began to appear when the spore attached to the substratum and produced rhizoids. Sexual reproduction was not observed during the four-year culture period. [ABSTRACT FROM AUTHOR]

Squid Game, a Netflix original series about children's games turned into deathmatches, has become a phenomenal global success and has captivated the latest cultural and media scenes. This article examines the representation of games in Squid Game to argue that their unprecedented appeal to the masses derives from a paradoxical human desire for ruthless competition and moral cooperation. That is, while Squid Game presents a superb allegory of the degree to which contemporary game playing is driven by consumer capitalism, it simultaneously unfolds a moving drama in the midst of competition where unanticipated team spirit is kindled and underdogs win against all odds. Focusing on a dialectic between result-oriented competition and utopian cooperation, the article concludes that the huge popularity of Squid Game demonstrates the contemporary spectator's need for a hybrid entertainment when watching games. [ABSTRACT FROM AUTHOR]

Winning more than 300 awards and overachieving at the box office worldwide, Parasite remains a perfect marriage of arthouse and mainstream, social commentary and entertainment. However, the rapturous reception of the film belies the odd paucity of critical conversation, eclipsed by an explosion of "opinions." This article examines the way Parasite , by offering unlimited pleasures of interpretation of its elaborate cinematic details, leaves the theme of social disparity unchallenged: a process that would be best illuminated by Walter Benjamin's phrase, "the aestheticization of politics." The first part borrows from David Harvey and Bruno Latour and examines the film's spatialization of social inequality within two opposite dwellings. The second part analyzes Parasite 's merging of smell and poverty, using Jacques Ranciere's term, "the distribution of the sensible." The last part delves into the things abundant in Parasite , how the exotic Korean objects designed to supplement action and characterization overpower the film and thus erase sociopolitical potentialities. The fact that Parasite was financed by a South Korean chaebol , which ironically created the film's artistic aura, shows that contemporary filmmaking cannot break free from neoliberalism but has become a cultural "parasite." [ABSTRACT FROM AUTHOR]

Since Russia invaded Ukraine in February 2022, there has been an urgent need to provide mental healthcare and share various practices for Ukrainian war refugees. This study urgently focuses on the need for art therapy to support the mental health of Ukrainian refugees, Koryo-saram, who are staying in the Republic of Korea due to the wartime emergency. It also examines the impact of art therapy intervention on anxiety and subjective stress. The single-session art therapy with the 54 Koryo-saram refugees aged 13-68 showed the effectiveness of the art therapy intervention. The results indicate that GAD-7 (t = 3.092, p = 0.003) and SUDs (t = 3.335, p = 0.002) were statistically significant within the intervention group. In addition, satisfaction assessments of the qualitatively analyzed participants showed that Ukrainian Koryo-saram had a positive experience of art therapy. Therefore single-session art therapy in this study demonstrated the efficacy of art therapy for the anxiety and subjective distress of Ukrainian Koryo-saram refugees. This result suggests that the intervention of art therapy as immediate mental healthcare for refugees facing war could benefit the mental health of Koryo-saram refugees. [ABSTRACT FROM AUTHOR]

Background: During transoral robot‐assisted thyroidectomy, there is a risk of increasing intracranial pressure because the site of CO2 insufflation is narrow and close to the brain. Methods: We analyzed the pre‐ to post‐CO2 neck insufflation change in the optic nerve sheath diameter during transoral robot‐assisted thyroidectomy. Changes in vital‐signs, airway pressure, and arterial carbon dioxide pressure were analyzed along with postoperative complications. Results: Among the 30 participants, the post‐CO2 inflation mean optic nerve sheath diameter (5.64 ± 0.54 mm) was higher than the pre‐induction diameter (4.81 ± 0.37 mm) with a mean difference of 0.83 (95% CI, 0.69–0.97; p < 0.001), but returned to baseline after CO2 deflation in most cases. One participant had sustained increased optic nerve sheath diameter (6.35 mm) associated with severe new‐onset postoperative headache. Conclusion: Transient elevation in the intracranial pressure during low‐pressure CO2 neck insufflation in the transoral robot‐assisted thyroidectomy did not appear to adversely affect patients. [ABSTRACT FROM AUTHOR]

Introduction: In recent years, the erector spinae plane block (ESPB) has seen widespread use to treat acute and chronic pain in the regions of the thoracic spine. While limited data suggest its increasing utilization for pain management distal to the thoracic, abdomen and trunk, the anesthetic spread and analgesic mechanism of ESPB at the level of the lumbar spine has not been fully described or understood. Methods: This is an observational anatomic cadaveric study to assess the distribution of solution following an ESPB block performed at the fourth lumbar vertebrae (L4) using ultrasound guidance to evaluate the spread of a 20 ml solution consisting of local anesthetic and methylene blue. The study was performed in an anatomy lab in a large academic medical center. Following injection of local anesthetic with contrast dye, cadaveric dissection was performed to better understand the extent of contrast dye and to determine the degree of staining to further predict analgesic potential. We reviewed the findings of other ESPB cadaveric studies currently available for comparison. Results: Following cadaveric dissection in an anatomy lab, the contrast dye was observed in the ESP space, and staining was found most cranially at L2 and extending caudally underneath the sacrum. Evaluating the depth of its spread, we found it to be confined to the posterior compartment of the spine sparing the nerve roots bilaterally, which is consistent with the only other cadaveric study of ESPB performed at L4. Conclusion: Our results demonstrate the clinical utility of lumbar ESPB where posterior confinement of local anesthesia is preferred. However, further investigation is needed to determine the efficacy of ESPB in lower extremity analgesia which is predicated on ventral nerve root involvement. [ABSTRACT FROM AUTHOR]

Obesity is a major cause of conditions such as type 2 diabetes and non-alcoholic fatty liver disease, posing a threat to public health worldwide. Here, we analyzed the anti-obesity effects of a standardized ethanol extract of Cassia mimosoides var. nomame Makino (EECM) in vitro and in vivo. Treatment of 3T3-L1 adipocytes with EECM suppressed adipogenesis and lipogenesis via the AMP-activated protein kinase pathway by downregulating the expression levels of CCAAT/enhancer-binding protein-alpha, peroxisome proliferator-activated receptor (PPAR)-γ, sterol regulatory element-binding protein-1, and fatty acid synthase and upregulating the acetyl-CoA carboxylase. EECM inhibited mitotic clonal expansion during early adipocyte differentiation. Oral administration of EECM for 10 weeks significantly alleviated body weight gain and body fat accumulation in high-fat diet (HFD)-fed mice. EECM mitigated adipogenesis and lipid accumulation in white adipose and liver tissues of HFD-induced obese mice. It regulated the levels of adipogenic hormones including insulin, leptin, and adipokine in the blood plasma. In brown adipose tissue, EECM induced the expression of thermogenic factors such as uncoupling protein-1, PPAR-α, PPARγ co-activator-1α, sirtuin 1, and cytochrome c oxidase IV. EECM restored the gut microbiome composition at the phylum level and alleviated dysbiosis. Therefore, EECM may be used as a promising therapeutic agent for the prevention of obesity. [ABSTRACT FROM AUTHOR]

The current comparative study sought to identify psychosocial stressors of corona-virus disease 2019 (COVID-19)–dedicated (n = 110) and non-COVID-19–dedicated (n = 118) nurses (herein referred to as COVID nurses and non-COVID nurses, respectively). Data were collected online from October 20, 2020, to April 1, 2021. Significant predictors of mental health for COVID nurses were purpose/meaning (β = −0.32, p < 0.001), perceived stigma (β = 0.25, p = 0.001), perceived work environment improvement (β = −0.22, p = 0.004), and absolute work intensity (β = 0.26, p = 0.004). For non-COVID nurses, predictors were purpose/meaning (β = −0.34, p < 0.001) and absolute work intensity (β = 0.26, p = 0.003). It is necessary to develop programs and policies that support the mental health of nursing staff. Administrative efforts should be made to create a work environment that allows nurses to focus on their work during health crises, such as the COVID-19 pandemic. Nursing staff should be supported so that appropriate working hours are maintained and breaks are guaranteed. [Journal of Psychosocial Nursing and Mental Health Services, 61(1), 39–46.] [ABSTRACT FROM AUTHOR]

Objectives: This study reports on the long-term effects of the Better Life After Cancer: Energy, Strength, and Support (BLESS) program, a 12-week social capital-based exercise adherence program for breast cancer survivors (BCS), implemented using a randomized controlled trial design. The study investigated outcomes related to cancerrelated fatigue (CRF), quality of life (QOL), physical activity, depression, anxiety, sleep quality, and social capital. Methods: Participants who had moderate or greater CRF were randomly assigned to the intervention (n = 24), consisting of supervised and home-based exercise, or the control (n = 26), who received exercise leaflets. Generalized estimating equations models were fitted for the outcome variables. The assessment points were baseline (M1), immediately after completing the intervention at 12 weeks (M2), 1 month (M3), and 6 months post-intervention (M4). Results: A significant reduction in the total CRF score was found for both groups. We observed a significant time by group effect at M2, indicating a reduction of behavioral/severity CRF scores and a higher increase of physical activity. Also, there was an increase in the QOL score of both groups at M2, M3, and M4, compared to M1. Both groups had reduced anxiety at M3 and M4 compared to M1. The time by group effect for depression, sleep quality and social capital was not statistically significant. Conclusion: This 12-week exercise adherence program improved behavioral/severity CRF and physical activity post-intervention. Both the experimental group and control group showed significant improvements in CRF, QOL, and anxiety domains compared to the baseline, which extended to 6 months post-intervention. [ABSTRACT FROM AUTHOR]

We herein report the influences of glass fibers (GFs) on the thermal stability and long-term mechanical performance at elevated temperatures of thermotropic liquid crystal polyester (TLCP) composites for advanced applications in the industrial sectors of automotive, electric/electronics, aerospace, and construction. For this purpose, TLCP-based composites with 10–40 wt% GF loadings are fabricated by facile melt-mixing and injection-molding. The scanning electron microscopy (SEM) images and X-ray diffraction patterns demonstrate that the GFs are dispersed in the TLCP matrix with a microfibrillar structure. The specific interactions between TLCP and GFs in the composites are identified by ATR FT-IR spectroscopic analyses. The thermal degradation temperatures of the composites increase slightly with the increment of GFs with high thermal stability and heat capacity. The long-term mechanical durability of TLCP/GF composites at 150 °C is analyzed by obtaining time-dependent storage modulus master curves based on the stepped isothermal method and time–temperature superposition principle. The dynamic mechanical moduli, activation energy, and long-term mechanical durability are found to be highly enhanced for TLCP composites with higher GF loadings, which is owing to the efficient stress transfer from the TLCP matrix to reinforcing GF fillers via specific interactions at the composite interface. [ABSTRACT FROM AUTHOR]

Background: Phase I of the Korean Undiagnosed Diseases Program (KUDP), performed for 3 years, has been completed. The Phase I program aimed to solve the problem of undiagnosed patients throughout the country and develop infrastructure, including a data management system and functional core laboratory, for long-term translational research. Herein, we share the clinical experiences of the Phase I program and introduce the activities of the functional core laboratory and data management system.Results: During the program (2018-2020), 458 patients were enrolled and classified into 3 groups according to the following criteria: (I) those with a specific clinical assessment which can be verified by direct testing (32 patients); (II) those with a disease group with genetic and phenotypic heterogeneity (353 patients); and (III) those with atypical presentations or diseases unknown to date (73 patients). All patients underwent individualized diagnostic processes based on the decision of an expert consortium. Confirmative diagnoses were obtained for 242 patients (52.8%). The diagnostic yield was different for each group: 81.3% for Group I, 53.3% for Group II, and 38.4% for Group III. Diagnoses were made by next-generation sequencing for 204 patients (84.3%) and other genetic testing for 35 patients (14.5%). Three patients (1.2%) were diagnosed with nongenetic disorders. The KUDP functional core laboratory, with a group of experts, organized a streamlined research pipeline covering various resources, including animal models, stem cells, structural modeling and metabolic and biochemical approaches. Regular data review was performed to screen for candidate genes among undiagnosed patients, and six different genes were identified for functional research. We also developed a web-based database system that supports clinical cohort management and provides a matchmaker exchange protocol based on a matchbox, likely to reinforce the nationwide clinical network and further international collaboration.Conclusions: The KUDP evaluated the unmet needs of undiagnosed patients and established infrastructure for a data-sharing system and future functional research. The advancement of the KUDP may lead to sustainable bench-to-bedside research in Korea and contribute to ongoing international collaboration. [ABSTRACT FROM AUTHOR]

Purpose: Patients with self-limited epilepsy with centrotemporal spikes (SLECTS) rarely experience generalized tonic-clonic seizures (GTCS) after remission, and post-remission GTCS has not been thoroughly described in earlier studies. Herein, we describe the clinical and electrographic features of GTCS after a substantial period of seizure freedom in patients with SLECTS. Methods: This study included six patients (three boys and three girls) diagnosed with SLECTS who later developed GTCS after or near remission. Medical records, including clinical data and serial electroencephalography (EEG) recordings, were retrospectively reviewed for all patients. Results: Patients' age at SLECTS onset ranged from 5.2 to 10.2 years (mean, 8.4 years), while seizure cessation was achieved between 8 and 12.2 years. During SLECTS, typical centrotemporal spikes were observed in all patients, and generalized spike-and-wave discharges were observed in three patients. The age at the first episode of subsequent GTCS ranged from 14.4 to 17.3 years (mean, 15.8 years), constituting an average interval of 5.6 years after the last episode of seizures (range, 4.1 to 8.1 years). EEG at subsequent episodes of GTCS revealed generalized discharges in two patients, focal discharges in two other patients, and normal discharges in the remaining two patients. Two patients had multiple episodes of GTCS. Conclusion: Although rare, GTCS may occur near or after remission in patients with SLECTS, and clinicians should be aware of this. Subsequent GTCS may be a manifestation of idiopathic generalized epilepsy. However, large-scale studies are needed to determine the nature of such episodes of GTCS and their associated risk factors. [ABSTRACT FROM AUTHOR]

Art therapy is useful for immigrant youth to reduce depression, anxiety and stress through visualised images. This study determined indications of psychological outcomes, acceptability and satisfaction of art therapy among Korean immigrant youth. A quasi-experiment (one-group pre-, post-test) design, with 25 young people (13–24 years old) in the Republic of Korea receiving five weekly sessions of art therapy from November 2020 to March 2021. Patient Health Questionnaire-9, Generalised Anxiety Disorder-7 and Perceived Stress Scale were used as psychological measurements to determine the programme's indications of outcomes; acceptability and satisfaction were measured. The level of depression severity and perceived stress level was improved and the level of depression severity was maintained at the three-month follow-up as a result of art therapy. According to the acceptance rate, 79.2% found it useful and 78.2% found it enjoyable. Art therapy for Korean immigrant youth has the promising result. However, extensive study is necessary to rigorously examine its effectiveness and develop interventions suitable across cultures. This study showed that art therapy could be an acceptable and efficacious therapeutic mental health intervention for immigrant youth who face challenges with verbal communication and undergo acculturative stress. This study was conducted to examine the outcomes of psychological measurements, and acceptability of, as well as satisfaction with, five sessions of art therapy delivered to 25 Korean immigrant youths (13–24 years old). The study found positive changes perceived by immigrant youths. The levels of depression severity and perceived stress were improved, and the reduced depression severity was maintained at the three-month follow-up. The study also reported art therapy as 79.2% found it useful and 78.2% found it enjoyable, contributing to their psychological stability. Overall, art therapy could be an acceptable and efficacious therapeutic mental health intervention for immigrant youths, who face challenges with verbal communication and experience acculturative stress. [ABSTRACT FROM AUTHOR]

Various treatment methods are used for noninvasive body contouring. To evaluate the efficacy and safety of a newly designed cryolipolysis device using a three‐dimensional cooling method for abdominal fat reduction. Twenty‐five participants with clinically apparent abdominal fat tissue participated in the study. The thickness of fat tissue below the umbilicus level was measured using a caliper at baseline and 12 weeks after the first treatment. The height of abdominal subcutaneous fat tissue on ultrasonography and participant satisfaction were assessed at every visit for 16 weeks. All adverse events (AEs) during the study period were recorded. p values <0.05 were considered statistically significant. Twenty‐four participants completed this study; the mean BMI of participants was 29.34 ± 2.36 kg/m2. The mean thickness of abdominal subcutaneous fat was significantly lower at 12 weeks (40.4 ± 6.8 mm, p < 0.001) than at baseline (49.3 ± 8.5 mm). Differences in the height of abdominal subcutaneous fat compared to that at baseline were 1.02 ± 0.41 cm (12 weeks, p < 0.001) and 1.13 ± 0.44 cm (16 weeks, p < 0.001). Rates of abdominal subcutaneous fat reduction at 12 and 16 weeks compared to that at baseline were 28.45% and 31.13%, respectively. The ratio of abdominal circumference to hip circumference at 12 and 16 weeks was significantly decreased compared to that at baseline. Most participants (95.8%) reported improvement in satisfaction scores at 16 weeks. There were no serious AEs during the entire study period. The study demonstrated the efficacy of a noninvasive cryolipolysis device using a three‐dimensional cooling method for reducing abdominal subcutaneous fat. [ABSTRACT FROM AUTHOR]

An input‐series quasi‐resonant (QR) flyback high‐voltage switching mode power supply (SMPS) based on an integrated transformer has been designed and analysed. It is capable of converting a high DC input voltage to lower DC voltage to power the control components of high‐power converters in a DC microgrid. An integrated transformer, combined with identical duty cycle control, is adopted to achieve automatic equalization of the series modules effectively even without employing any voltage or current equalization control strategy, of which effect is analysed theoretically. The design of the control system, based on QR flyback SMPS is given, which is implemented by peak current control, and a DCM small‐signal model for the designed SMPS is established, which indicates that the system has high stability and accuracy to ensure normal operation across a broad range of input voltages. Finally, the validity of the theoretical analysis and the proposed method is demonstrated by the development of a 48 W SMPS experimental prototype, which is composed of three input‐series modules. The overall efficiency of the prototype has been improved due to the adoption of QR. The proposed design and analysis methods can be extended to other input‐series isolated DC/DC topologies. [ABSTRACT FROM AUTHOR]

Hypoxemia and multiple organ dysfunction are significant contributors to mortality in patients with pediatric acute respiratory distress syndrome (PARDS). P50, the oxygen tension at which hemoglobin is 50% saturated, is a measure of hemoglobin-oxygen affinity, and its alteration might have implications for tissue hypoxia and organ dysfunction. The purpose of this single-center, retrospective study was to evaluate P50 levels in PARDS and to determine the association between P50 and clinical outcomes. The study included 212 children diagnosed with PARDS according to the Pediatric Acute Lung Injury Consensus Conference definition who required invasive mechanical ventilation and had arterial blood gas results of hemoglobin oxygen saturation < 97% at the time of diagnosis. P50 levels were calculated using Doyle's method, and organ dysfunction was assessed using the Pediatric Logistic Organ Dysfunction-2 score. Most patients exhibited more than one dysfunctional extrapulmonary organ at PARDS onset. P50 increased with increasing PARDS severity (mild (26.6 [24.9–29.6]), moderate (26.8 [25.0–29.5]), and severe PARDS (29.1 [26.1–32.4] mmHg; P = 0.025). Moreover, P50 demonstrated a significant positive association with extrapulmonary organ dysfunction score (β = 0.158, P = 0.007) and risk of mortality (adjusted hazard ratio, 1.056; 95% confidence interval, 1.015–1.098; P = 0.007), irrespective of initial PARDS severity. The relationship between P50 and mortality was largely mediated by extrapulmonary organ dysfunction. A high P50 value at the time of PARDS diagnosis may be associated with mortality via dysfunctional extrapulmonary organs. Future studies should consider P50 as a potential candidate index for risk stratification of PARDS patients. [ABSTRACT FROM AUTHOR]

Background: Aminoacyl tRNA transferases play an essential role in protein biosynthesis, and variants of these enzymes result in various human diseases. FARSA, which encodes the α subunit of cytosolic phenylalanyl-tRNA synthetase, was recently reported as a suspected causal gene for multiorgan disorder. This study aimed to validate the pathogenicity of variants in the FARSA gene.Results: Exome sequencing revealed novel compound heterozygous variants in FARSA, P347L and R475Q, from a patient who initially presented neonatal-onset failure to thrive, liver dysfunction, and frequent respiratory infections. His developmental milestones were nearly arrested, and the patient died at 28 months of age as a result of progressive hepatic and respiratory failure. The P347L variant was predicted to disrupt heterodimer interaction and failed to form a functional heterotetramer by structural and biochemical analyses. R475 is located at a highly conserved site and is reported to be involved in phenylalanine activation and transfer to tRNA. The R475Q mutant FARSA were co-purified with FARSB, but the mutant enzyme showed an approximately 36% reduction in activity in our assay relative to the wild-type protein. Additional functional analyses on variants from previous reports (N410K, F256L, R404C, E418D, and F277V) were conducted. The R404C variant from a patient waiting for organ transplantation also failed to form tetramers but the E418D, N410K, F256L, and F277V variants did not affect tetramer formation. In the functional assay, the N410K located at the phenylalanine-binding site exhibited no catalytic activity, whereas other variants (E418D, F256L and F277V) exhibited lower ATPase activity than wild-type FARSA at low phenylalanine concentrations.Conclusions: Our data demonstrated the pathogenicity of biallelic variants in FARSA and suggested the implication of hypomorphic variants in severe phenotypes. [ABSTRACT FROM AUTHOR]

Aim: To investigate the clinical characteristics and prevalence of paediatric anti‐myelin oligodendrocyte glycoprotein (MOG) antibody‐associated autoimmune encephalitis. Method: A total of 94 paediatric patients (46 males, 48 females, median age 9 years 5 months, range: 8 months–17 years 8 months) with autoimmune encephalitis were recruited at Seoul National University Children's Hospital. We evaluated autoantibody status and identified patients with anti‐MOG antibody‐associated autoimmune encephalitis. Retrospective reviews of medical records were performed to describe clinical presentations, laboratory findings, treatments, and outcomes. Results: Eight patients (five males, three females, median age 11 years 9 months) with anti‐MOG antibody‐associated encephalitis were identified (8.5% of those with autoimmune encephalitis), one of whom was copositive for anti‐N‐methyl‐d‐aspartate receptor (NMDAR) antibodies. Anti‐NMDAR antibodies were identified in 23 patients (23 out of 94, 24.5%). Unilateral or bilateral cortical involvement was identified in five patients. Focal contrast enhancement was also identified in three of the five patients with cortical lesions. All patients showed favourable response to immunotherapy with a Modified Rankin Scale ≤2 at the last follow‐up. Relapse was found in one patient and clinico‐radiological remission was achieved with cyclic intravenous immunoglobulin therapy. Interpretation: Anti‐MOG antibody‐associated encephalitis accounts for a significant proportion of clinically defined paediatric patients with autoimmune encephalitis. Anti‐MOG antibody‐associated encephalitis should be included in the clinical spectrum of anti‐MOG‐associated diseases. [ABSTRACT FROM AUTHOR]

We herein report the morphology, rheological, thermal, and dynamic mechanical properties of thermotropic polyarylate/polycarbonate (PAR/PC, 70/30 by wt%) blends, which are compatibilized via melt-processing in the presence of different tetrabutylammonium tetraphenylborate catalyst loadings of 0.0–1.0 phr. The electron microscopic images exhibit that the compatibility of PAR/PC blends is improved with increasing the catalyst loading at the melt-compounding. The infrared spectroscopic analysis reveals the formation of PAR-co-PC copolymers in the melt-compounded blends via catalyst-assisted interchange reactions between ester groups of PAR and carbonate groups of PC. Accordingly, the shear moduli and complex viscosity at a melt state increase for the melt-processed blends with higher catalyst loadings. In addition, the melt-crystallization and melting temperatures of PAR and the glass transition temperature of PC tend to decrease for the blends manufactured at higher catalyst contents due to the shortening of crystallizable PAR and amorphous PC segments. Interestingly, the residue at 800 °C increases for the melt-processed blends with higher catalyst loadings. The elastic storage moduli of compatibilized PAR/PCT blends at a glassy sate are almost the same as that of neat PAR and far higher than that of neat PC. It is thus believed that PAR/PC blends can be efficiently compatibilized via catalyst-assisted ester-carbonate interchange reactions through a facile and scalable melt-compounding process and they can be used as engineering polymeric materials that alleviate the disadvantages of thermotropic PAR caused by its high anisotropic structure and physical properties. [ABSTRACT FROM AUTHOR]

Purpose: This study aims to explore consumers' perceptions of stealing thunder and to investigate significant factors for maximizing its effect. Design/methodology/approach: This study used a mixed-methods approach. First, qualitative responses from 286 Korean participants were collected and analyzed (Study 1). Second, the experiment employed a randomized 2 (crisis communication timing: stealing thunder vs thunder) × 2 (transparent vs nontransparent communication) × 2 (follow-up actions: good vs poor) between-subjects experimental design with 426 Korean participants to investigate and confirm the results of Study 1. Findings: Qualitative data showed that the participants' evaluation of corporations' stealing thunder strategy is complicated. Some do not perceive corporate use of stealing thunder at face value, but rather view it as yet another hopeless, selfish and irresponsible crisis communication strategy, distrusting it based on strong cynicism toward all corporations. An experiment confirmed that stealing thunder was significantly more effective in eliciting consumers' ethical judgment (EJ) and word-of-mouth (WOM) on corporations than the thunder strategy. Significant two-way interaction effects between crisis timing and follow-up actions showed that the stealing thunder strategy should be accompanied by follow-up actions to increase consumers' credibility and WOM intentions. Originality/value: This study investigated how consumers evaluate stealing thunder by adopting both a qualitative and quantitative approach to explore how they make meaning out of this phenomenon. [ABSTRACT FROM AUTHOR]

Purpose: X-linked myotubular myopathy (XLMTM) is a rare condition of centronuclear myopathy caused by myotubularin 1 (MTM1) mutations. Patients with XLMTM show different neurodevelopmental outcomes after the neonatal period depending on age and acquired hypoxic damage. We aim to evaluate the clinical characteristics and neurodevelopmental outcomes of patients with XLMTM who were followed up at a single center. It is essential to understand the volume and conditions to prepare for being a candidate for new therapeutic strategies. Methods: Patients diagnosed with centronuclear myopathy by muscle pathology and MTM1 mutation analysis were included. We retrospectively investigated motor milestones, communication skills, and bulbar and respiratory function in the patients. The patients were categorized into two groups: with and without hypoxic insults (HI). Results: All 13 patients were severely affected by neonatal hypotonia and required respiratory support and a feeding tube during the neonatal period. The follow-up duration was 4.4 years (range, 0.3 to 8.9). In the non-HI group, developmental milestones were delayed but were slowly achieved. Some patients underwent training in oral feeding with thickened foods and weaning from ventilation. Patients with HI showed poor motor function catch-up and communication skills. Three deaths were associated with acute respiratory failure. Conclusion: Patients with XLMTM without HI can survive long-term with the slow achievement of motor milestones and bulbar and respiratory function. However, hypoxic brain damage following acute respiratory failure negatively influences their developmental potential or even lead to death. Therefore, parental education for proper respiratory management is necessary, especially for young children. [ABSTRACT FROM AUTHOR]

Purpose: Caveolinopathy is a disease caused by caveolin-3 (CAV3) mutations that shows a wide clinical spectrum, including isolated hyperCKemia and limb-girdle muscular dystrophy. While recent advances in next-generation sequencing (NGS) have enabled earlier diagnosis of this disease, it remains difficult to predict the clinical course of each patient. Methods: This study summarizes the clinical presentations of 13 genetically confirmed caveolinopathy patients in four Korean families. Genetic diagnosis was performed using NGS technologies for probands and Sanger sequencing for the other family members. Results: Four coding mutations were found (p.Val103_Val104del, p.Asp28Glu, p.Pro105Leu, and p.Arg27Gln), and each family showed autosomal dominant inheritance. While all 13 cases had hyperCKemia, only five of them showed some myopathic features including ankle contracture, calf hypertrophy, exercise intolerance, and muscle cramping. This high proportion of asymptomatic cases suggests both that these mutations may be associated with a mild phenotype and that caveolinopathy may be an underdiagnosed disease. Conclusion: This study extends our understanding of caveolinopathy; in particular, the findings suggest the need to consider caveolinopathy in patients with incidental findings of creatine kinase elevation. NGS may be a useful method in the differential diagnosis of such cases. [ABSTRACT FROM AUTHOR]

Purpose: Wieacker-Wolff syndrome is a rare disease caused by X-linked zinc finger C4H2-type containing (ZC4H2) mutations. It is characterized by arthrogryposis multiplex congenita (AMC) and intellectual disability (ID), including impairment of central and peripheral synaptic plasticity. Currently, it is named "ZC4H2-associated rare disease" (ZARD) due to various clinical features other than AMC and ID. Here, we report six cases of ZARD, and describe their variable clinical phenotypes. Methods: We analyzed the detailed clinical features and genotypes of six patients diagnosed by whole-exome sequencing or a chromosomal microarray. Results: In the four male patients, hemizygous mutations were found (c. 245A>C in two patients, c. 610C>A in one patient, and c.637C>T in one patient), and all variants were identified by Sanger sequencing. In the female patients, a 1.16-Mb deletion in Xq11.2, including ZC4H2, was identified by chromosomal microarray. All patients had heterogeneous phenotypes with variable severities. Motor delay was observed in all patients, four of whom could not walk independently. Other neurological features included ID, spasticity, and seizures. The craniofacial features included microcephaly, low-set ears, strabismus, ptosis, ocular motor apraxia, a U-shaped upper lip vermilion, short neck, and microretrognathia. The most common musculoskeletal symptoms were multiple arthrogryposis: metacarpophalangeal joint contracture, clubfoot, distal muscle weakness, Achilles tendon contracture, knee flexion contracture, camptodactyly, elbow flexion contracture, and hip subluxation. Conclusion: The ZARD phenotypes were prominent in male patients, and female patients with loss of function showed more severe symptoms. Further research is needed to clarify phenotypic variability in this rare disorder. [ABSTRACT FROM AUTHOR]

Bronchopulmonary dysplasia (BPD) can cause respiratory morbidity beyond the neonatal period. We aimed to analyze the association of BPD on childhood lower respiratory illness (LRI) and asthma among patients diagnosed with respiratory distress syndrome (RDS). This case–control study analyzed data between 2002 and 2015 from a nationwide database. We included 55,066 children with RDS. Two-year LRI and asthma at ages 3 and 5 were assessed. Readmission for LRIs within 2 years of birth occurred in 53.9% and 37.9% of the BPD (n = 9470) and non-BPD (n = 45,596) cases, respectively. In the BPD group, the median number of hospitalizations, mechanical ventilation and oxygen use rates were significantly higher, while the hospitalization duration was significantly longer (P < 0.001 for all). The relative risk of BPD was 1.42 (1.39–1.45) on total readmission and 6.53 (5.96–7.15) on intensive care unit readmission. Asthma prevalence was significantly higher in BPD group (57.6% vs. 48.9% at age 3 and 44.3% vs. 38.2% at age 5, P < 0.001). In children with RDS, BPD could affect repetitive and worse LRI as an independent risk factor for respiratory morbidity during the first 2 years of life. BPD may also be a crucial risk factor for asthma in preschoolers. [ABSTRACT FROM AUTHOR]

Bronchopulmonary dysplasia (BPD) can cause respiratory morbidity beyond the neonatal period. We aimed to analyze the association of BPD on childhood lower respiratory illness (LRI) and asthma among patients diagnosed with respiratory distress syndrome (RDS). This case–control study analyzed data between 2002 and 2015 from a nationwide database. We included 55,066 children with RDS. Two-year LRI and asthma at ages 3 and 5 were assessed. Readmission for LRIs within 2 years of birth occurred in 53.9% and 37.9% of the BPD (n = 9470) and non-BPD (n = 45,596) cases, respectively. In the BPD group, the median number of hospitalizations, mechanical ventilation and oxygen use rates were significantly higher, while the hospitalization duration was significantly longer (P < 0.001 for all). The relative risk of BPD was 1.42 (1.39–1.45) on total readmission and 6.53 (5.96–7.15) on intensive care unit readmission. Asthma prevalence was significantly higher in BPD group (57.6% vs. 48.9% at age 3 and 44.3% vs. 38.2% at age 5, P < 0.001). In children with RDS, BPD could affect repetitive and worse LRI as an independent risk factor for respiratory morbidity during the first 2 years of life. BPD may also be a crucial risk factor for asthma in preschoolers. [ABSTRACT FROM AUTHOR]