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Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.

Purpose: To analyze the difference in bony pelvimetry using magnetic resonance imaging (MRI) in women who delivered vaginally and those who underwent cesarean section (CS) due to cephalopelvic disproportion (CPD).Methods: This retrospective case-control study enrolled Korean women who gave birth to their first child between 37 and 42 weeks of pregnancy and underwent pelvic MRI between January 2014 and June 2020. These women were classified into 3 groups: vaginal delivery (VD), CS due to CPD (CPD-CS), and CS due to reasons other than CPD (Other-CS). In MRI images, true conjugate (TC), obstetric conjugate (OC), mid anterior-posterior (AP) distance (MAD), outlet AP distance (OAD), ischial spine distance (ISD), ischial tuberosity distance (ITD), and pubic angle (PA) were measured.Results: In total, 392 women were enrolled. There were no significant differences in maternal height and body mass index at birth among the 3 groups. The ISD was statistically different between the VD group (106.2±6.4 mm) and the Other-CS group (110.4±8.8 mm) (p=0.014). After multiple regression analysis, short ISD (adjusted odds ratio [aOR], 0.92; 95% confidence interval [CI], 0.87-0.97; p=0.002), short MAD (aOR, 0.95; 95% CI, 0.89-0.99; p=0.047), and short ITD (aOR, 0.95; 95% CI, 0.91-0.99; p=0.019) were significantly associated with CS due to CPD.Conclusion: Short ISD, MAD, and ITD, measured using MRI, are important parameters that can predict CS due to CPD. The accumulation of related research could promote the development of an excellent imaging method in terms of cost-effectiveness. Thus, it may be possible to establish a method to reduce obstetric and perinatal complications due to dystonia.

Wilson disease (WD) is a relatively common genetic hepatic disease in children that is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by the mutation of ATP7B that is potentially fatal if diagnosed late or untreated owing to degenerative aspects in the brain. In the early phase of WD, its initial presentation may include a mild hepatic involvement. WD may be overlooked as a cause of liver disease due to severe obesity, but should not be excluded from the differential diagnosis. We report a case of WD with severe obesity and fatty liver diagnosed in the early phase by targeted gene panel sequencing. We reviewed the endocrine problems associated with WD. Early suspicion of WD is important to improve prognosis.

Diabetic ketoacidosis (DKA) is a medically fatal condition in poorly controlled hyperglycemia or newly diagnosed diabetes mellitus. Severe hypertriglyceridemia (HTG) is an uncommon complication of DKA and can be associated with acute pancreatitis (AP). We present the clinical manifestations, laboratory findings, and management of AP associated with HTG in a 14-year-old girl with DKA. The patient, with a 7-year history of type 2 diabetes presented with epigastric pain, 1 month after stopping insulin injection. DKA, severe HTG, and AP were diagnosed based on the laboratory and imaging tests. She recovered from DKA after conventional treatment for DKA, and her triglyceride (TG) level was reduced from 10,867 mg/dL to the normal range after 7 days of admission without antilipid medication. Given that her C-peptide level was not too low and considering her negative diabetes-related antibodies and high TG level, targeted gene panel sequencing was performed on the genes associated with diabetes and HTG. We identified a heterozygous mutation, c.4607C>T (p. Ala1537Val), in ABCC8 related to maturityonset diabetes of the young (MODY) 12. To our knowledge, this is the first reported case of HTG-induced AP with DKA in a patient with MODY. In addition, we reviewed the literature for pediatric cases of HTG with DKA. In patients with DKA, timely awareness of severe HTG related to insulin deficiency is crucial for improving the consequences of AP. We recommend considering AP in all DKA patients presenting with severe HTG to ensure early and proper management.

Purpose Prior research in the human resources management fields focused primarily on one type of employees’ pro-environmental behaviors yet failed to empirically investigate interrelationships among the distinct dimensions of their pro-environmental behaviors. To build a deeper understanding of the psychological process in becoming an environmental activist in the workplace, this study aims to examine the interrelationships among frontline employees’ green autonomous motivation, green external motivation, environmental concern, self-efficacy and three types of pro-environmental behaviors (i.e. green idea generation behavior, green idea promotion behavior and green idea activist behavior). Design/methodology/approach With the survey method, the data were collected from frontline employees working at hospitality enterprises in South Korea. This study analyzed the collected data, including frequency analysis, reliability analysis, correlation analysis, confirmatory factor analysis and structural equation modeling. Findings The empirical results showed that autonomous motivation significantly influenced environmental concern, self-efficacy, green idea generation behavior and green idea promotion behavior. Also, external motivation significantly affected environmental concern, self-efficacy and green idea promotion behavior. Furthermore, environmental concern had significant influences on self-efficacy and green idea promotion behavior, and self-efficacy had significant effects on green idea generation behavior and green idea promotion behavior. Finally, green idea activist behavior was significantly influenced by green idea generation behavior and green idea promotion behavior only. Practical implications This study proposes managerial implications to hospitality organizations and public policymakers for maximizing the effectiveness and efficiency of their green initiatives via frontline employees’ green idea activist behavior. Originality/value Based on the empirical findings, this study proposes several theoretical and practical implications for the extant literature and the service industry in the context of frontline employees’ three types of pro-environmental behaviors from their working motivation.

PurposeThe study focuses on how to build long-term relationships with multi-channel agencies (MCAs) (dealers) who serve multiple manufacturers on a non-exclusive basis in a business-to-business (B2B) market. This study looks at the framework of relational benefits-commitment-long term orientation in a business-to-business context.Design/methodology/approachData were collected from MCAs of three leading companies in the food distribution business. The survey used established scales to measure the relational benefits (core, operational, social and special treatment), commitment (affective and calculative) and long-term orientation (LTO).FindingsThe findings of the study show that core, social and special treatment benefits influence calculative commitment, and operational and special treatment benefits influence affective commitment. The study also supports that calculative and affective commitment play an important role in understanding the loyalty of MCAs.Originality/valueThe research examines how relational benefits impact commitment and loyalty among MCAs and manufacturers, in a non-exclusive relationship, in the business-to-business environment. This study incorporates social exchange theory (SET), relational benefits paradigm and commitment and long-term orientation in its framework and tests it within the food distribution industry. This study is the first of its kind to examine the effects of relational benefits on MCAs behavior in a food supplier–buyer setting.

Objective: Emerging research suggests weight-neutral approaches to health promotion are effective in supporting overall health, but they have been minimally adopted within physical activity (PA) co...

Due to the genotype–phenotype heterogeneity in retinitis pigmentosa (RP), molecular diagnoses and prediction of disease progression is difficult. This study aimed to report ocular and genetic data from Korean patients with PDE6B-associated RP (PDE6B-RP), and establish genotype–phenotype correlations to predict the clinical course. We retrospectively reviewed targeted next-generation sequencing or whole exome sequencing data for 305 patients with RP, and identified PDE6B-RP in 15 patients (median age, 40.0 years). Amongst these patients, ten previously reported PDE6B variants (c.1280G > A, c.1488del, c.1547T > C, c.1604T > A, c.1669C > T, c.1712C > T, c.2395C > T, c.2492C > T, c.592G > A, and c.815G > A) and one novel variant (c.712del) were identified. Thirteen patients (86.7%) experienced night blindness as the first symptom at a median age of 10.0 years. Median age at diagnosis was 21.0 years and median visual acuity (VA) was 0.20 LogMAR at the time of genetic analysis. Nonlinear mixed models were developed and analysis revealed that VA exponentially decreased over time, while optical coherence tomography parameters linearly decreased, and this was related with visual field constriction. A high proportion of patients with the c.1669C > T variant (7/9, 77.8%) had cystoid macular edema; despite this, patients with this variant did not show a higher rate of functional or structural progression. This study will help clinicians predict functional and structural progression in patients with PDE6B-RP.

Although a major goal of social justice-based education is to facilitate changes in discriminatory attitudes and behaviors, it can sometimes backfire and elicit negative responses from students. On...

Objective: Despite the popularity of weight loss interventions, research indicates these methods are ineffective for promoting long-term health. College age is a developmentally important age for developing lifelong health habits. FitU is a peer-led non-diet nutrition and physical activity (PA) mentoring intervention developed to promote lifelong health habits for college students. The purpose of this study was to examine the nutrition and PA outcomes of FitU participants. Design: Pre-experimental single group repeated-measures field study design with qualitative programme evaluation feedback at post-test. Setting: FitU participants met with both a nutrition and PA peer mentor four times each for a total of eight sessions. Method: Participants ( N = 125) completed pre- and post-surveys about their nutrition and PA attitudes and behaviours. Results: FitU participants increased their eating competence from pre-to-post assessment and decreased their perceived barriers to healthy eating. Participants also increased their readiness to exercise and reported being more physically active. Conclusion: Findings demonstrate the effectiveness of a peer-led, non-diet mentoring intervention in promoting health-supporting habits among college students.

Examining leadership from a competency perspective allows scholars to understand different dimensions of leader qualities and capacities. From this perspective, our study, based on social capital theory, proposed and tested a model that embraced the concepts of leader competency, knowledge sharing, employee job performance, and employee loyalty in the context of expatriate general managers. The study shows leader competencies are critical for promoting knowledge sharing and enhancing employee job performance. Both knowledge sharing and employee job performance are found to have a direct effect on employee loyalty.

Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the disease manifests with electrolyte imbalances and hyperpigmentation in neonates or young infants due to adrenocortical hormone deficiencies, and 46, XY genetic male CLAH patients can be phenotypically female. Meanwhile, some patients with STAR mutations develop hyperpigmentation and mild signs of adrenal insufficiency, such as hypoglycemia, after infancy. These patients are classified as having nonclassic CLAH (NCCLAH) caused by STAR mutations that retain partial activity of STAR. We present the case of a Korean boy with normal genitalia who was diagnosed with NCCLAH. He presented with whole-body hyperpigmentation and electrolyte abnormalities, which were noted at the age of 17 months after an episode of sepsis with peritonitis. The compound heterozygous mutations p.Gly221Ser and c.653C>T in STAR were identified by targeted gene-panel sequencing. Skin hyperpigmentation should be considered an important clue for diagnosing NCCLAH.

ObjectiveTo evaluate menopause-related changes in body fat distribution and their relationship with insulin resistance in middleaged Korean women.MethodsWe analyzed women aged 40-60 years using data from the National Health and Nutrition Examination Survey conducted from 2008 to 2011. Body fat was measured using dual-energy X-ray absorptiometry. Insulin resistance was assessed using the homeostasis model assessment of insulin resistance (HOMA-IR).ResultsAmong 3,468 participants, menopausal women (n=1,489) had a higher body mass index (BMI) and higher trunk, arm, and head fat percentages than premenopausal women (n=1,979). However, no significant difference was found in the leg fat percentage according to menopausal status. Multivariable regression analysis for HOMA-IR showed that trunk fat percentage, BMI, and waist circumference positively correlated with insulin resistance and leg fat percentage negatively correlated after adjusting for several confounding factors, whereas menopausal status was not associated with HOMAIR.ConclusionMiddle-aged women not only have different body weights and BMI but also have different body fat distributions according to menopausal status. Each fat percentage change in the trunk and leg is differently associated with metabolic health, particularly insulin resistance. To evaluate the metabolic health of middle-aged women, BMI is generally noted; however, body fat distribution, which can be easily assessed using dual-energy X-ray absorptiometry, should also be considered.

Rapid and accurate detection of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is essential for the successful control of the current global COVID-19 pandemic. The real-time reverse transcription polymerase chain reaction (Real-time RT-PCR) is the most widely used detection technique. This research describes the development of two novel multiplex real-time RT-PCR kits, AccuPower® COVID-19 Multiplex Real-Time RT-PCR Kit (NCVM) specifically designed for use with the ExiStation™48 system (comprised of ExiPrep™48 Dx and Exicycler™96 by BIONEER, Korea) for sample RNA extraction and PCR detection, and AccuPower® SARS-CoV-2 Multiplex Real-Time RT-PCR Kit (SCVM) designed to be compatible with manufacturers’ on-market PCR instruments. The limit of detection (LoD) of NCVM was 120 copies/μL and the LoD of the SCVM was 2 copies/mL for both the gene and the SARS-CoV-2 gene (N gene and RdRp gene). The AccuPower® kits demonstrated high precision with no cross reactivity to other respiratory-related microorganisms. The clinical performance of AccuPower® kits was evaluated using the following clinical samples: sputum and nasopharyngeal/oropharyngeal swab (NPS/OPS) samples. Overall agreement of the AccuPower® kits with a Food and Drug Administration (FDA) approved emergency use authorized commercial kit (STANDARD™ M nCoV Real-Time Detection kit, SD BIOSENSOR, Korea) was above 95% (Cohen’s kappa coefficient ≥ 0.95), with a sensitivity of over 95%. The NPS/OPS specimen pooling experiment was conducted to verify the usability of AccuPower® kits on pooled samples and the results showed greater than 90% agreement with individual NPS/OPS samples. The clinical performance of AccuPower® kits with saliva samples was also compared with NPS/OPS samples and demonstrated over 95% agreement (Cohen’s kappa coefficient > 0.95). This study shows the BIONEER NCVM and SCVM assays are comparable with the current standard confirmation assay and are suitable for effective clinical management and control of SARS-CoV-2.

This conceptual paper is about the relationship between cultural value orientations and personal value systems in relation to predicting pro-environmental behavior in hospitality and tourism via a comprehensive literature review undertaken in the social sciences field. Based on the conceptual aspects of this topic, this paper demonstrates awareness of the wider literature and focuses on tourism and hospitality as special kinds of consumer products and behaviors, with consideration of the differences in approaches to the subject of personal values demonstrated by hospitality and tourism scholars. Based on the comprehensive literature review of research on personal values and cultural values, this study proposes conceptual differences and provides some recommendations for using cultural value orientations and personal value systems in the prediction of pro-environmental behavior in the hospitality and tourism study.

Although everyone experiences stress, researchers have repeatedly found that traditionally marginalized community members experience stressors that members from privileged groups do not exp...

To understand and modify TiO2 for organic photoreaction, two points are important: improving light absorption and retaining adsorption sites for organic reagents. Herein, we tuning the absorption and adsorption of TiO2 by introducing the defects on each phase of TiO2, called phase-mixed structures of ordered anatase (OA) and disordered rutile (DR) (OA/DR P25) and disordered anatase (DA) and ordered rutile (OR) (DA/OR P25). Disordered structure of TiO2 broadened the absorption wavelength range including visible light, but changed surface structure reduced the adsorptivity of organic reactant. Additionally, anatase and rutile phase of TiO2 has different surface properties and energy band structure, so keeping the crystalline anatase surface for adsorption was important while introducing the TiO2. Thus, it is assumed that the phase combination of OA and DR can be the best photocatalytic structure of TiO2 even without any supporting materials and/or co-catalysts. In fact, the arylation yield of OA/DR P25 is the highest (63.4%), compared to those of untreated P25 (40.0%) and DA/OR (20.1%), highlighting the potential of OA/DR P25 in various visible light-driven photocatalytic organic reactions.

To analyze the genetic causes of congenital hypothyroidism through the targeted exome sequencing of pediatric patients with congenital hypothyroidism with thyroid glandPermanent, subclinical, and transient hypothyroidism were diagnosed in 15 (75%), three (15%), and two (10%) patients, respectively. Genetic mutations were identified in 16 patients (80% positivity rate). Targeted exome sequencing of eight genes identified 24 variants in these patients: 11Targeted exome sequencing identified the genetic causes of congenital hypothyroidism with thyroid gland

Given that the market is becoming more competitive, it is imperative to understand what influences purchasing decisions of global consumers as consumer trends change regarding botanic cosmetics for anti-aging, maintaining appearance and skin health. This study considers and examines susceptibility to global consumer culture (SGCC) (conformity to consumer trend, social prestige, and quality perception) and its effect on affective commitment, which in turn influences behavioral commitment and loyalty in the context of the botanic cosmetic industry. In addition to examining the structural relationships among the variables, we test whether purchase experience moderates the proposed relationships. The results are as follows. First, conformity to consumer trends has a significant effect on emotional commitment, but is not positively associated with behavioral commitment. Second, social prestige has no significant direct effect on either emotional or behavioral commitment. Third, quality perception has a significant impact on emotional commitment, but no positive impact on behavioral commitment. Fourth, both emotional commitment and behavioral commitment affect brand loyalty, and behavioral commitment in particular has a significant effect on brand loyalty. Finally, through the analysis of the moderating effect on the cosmetic purchasing experience, first, it was confirmed that the less purchasing experience, the stronger the effect of conformity to consumption trend (CCT) on emotional commitment and behavioral commitment.

Baraitser-Winter Cerebro-fronto-facial syndrome (BWCFF, OMIM #243310, #614583) is caused by a heterozygous gain-of-function mutation of

Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial dysmorphism, and skeletal abnormalities. We report the clinical and molecular analysis of a family with ASS. A 31-month-old boy and his cousin were initially mistaken for having Noonan syndrome owing to short stature and facial dysmorphism. Considering the family history, we suspected the possibility of an X-linked genetic disease and performed targeted gene panel sequencing; a novel hemizygous variant c.1192-1 GA in

Critical reflective practice (CRP) facilitates macro-level reflections about social contexts and power structures through the interrogation of one’s own experiences (Knowles & Gilbourne, 2010). Despite the importance of CRP, examples of how one actually engages in CRP are scarce in sport psychology. Moreover, given that writing in academia is traditionally “author evacuated” (Knowles & Gilbourne, 2010, p. 512), it is questionable how traditional writing practices help facilitate critical reflections. Thus, the purpose of this study was to examine how sport psychology professionals can engage in CRP through the use of author-centered writing. Specifically, we responded to Knowles and Gilbourne’s (2010) call to use autoethnography as a way to engage in, as well as document, critical reflective writing. Through author-centered writing, we reflected on normalized practices that can hinder CRP. The detailed written accounts and collaborative process helped us recognize how the personal is political (Hanisch, 2006), and why culture and power are always important for sport psychology professionals to consider.

Coffin-Siris syndrome (OMIM #135900) is an autosomal dominant inherited disorder, characterized by dysmorphic features, congenital anomalies, and developmental delay. We report the clinical and molecular findings in a patient with Coffin-Siris syndrome. A 3-year-and-6-month-old boy presented with developmental delay, distinctive facial features, hypertrichosis, partial agenesis of the corpus callosum, fifth digit nail hypoplasia, congenital anomalies, and growth retardation. Targeted gene panel sequencing identified a novel heterozygous frameshift mutation c.2147_2148insAC in ARID1B which was predicted as a premature stop codon p. (Gln717Argfs*29). This is the second report of Coffin-Siris syndrome in Korea. Targeted gene panel sequencing can be used as an effective tool for the diagnosis of rare complex syndromes such as Coffin-Siris syndrome.