A Novel DHCR7 Mutation in a Smith-Lemli-Opitz Syndrome Infant Presenting with Neonatal Cholestasis

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive malformation syndrome caused by a defect in cholesterol biosynthesis. The incidence is very low in Asians and only one case has been reported in Korea thus far. Recently, we found an infant with neonatal cholestasis. He had microcephaly, ambiguous genitalia, cleft palate, syndactyly of toes, patent ductus arteriosus and hypertrophic pyloric stenosis. The serum cholesterol was decreased and serum 7-dehydrocholesterol was markedly elevated. Genetic analysis of the DHCR7 gene identified a novel missense mutation (Pro227Ser) as well as a known mutation (Gly303Arg) previously identified in a Japanese patient with SLOS. Although rare in Korea, SLOS should be considered in the differential diagnosis of neonatal cholestasis, especially in patients with multiple congenital anomalies and low serum cholesterol levels.Chae JH, 2007, J CHILD NEUROL, V22, P1297, DOI 10.1177/0883073807307099Yu H, 2005, CLIN GENET, V68, P383, DOI 10.1111/j.1399-0004.2005.00515.xMatsumoto Y, 2005, J HUM GENET, V50, P353, DOI 10.1007/s10038-005-0267-3Rossi M, 2005, AM J MED GENET A, V132A, P144, DOI 10.1002/ajmg.a.30426WITSCHBAUMGARTN.M, 2005, HUM MUTAT, V25, P412Herman GE, 2003, HUM MOL GENET, V12, pR75, DOI 10.1093/hmg/ddg072Yu HW, 2000, HUM MOL GENET, V9, P1385Kelley RI, 2000, J MED GENET, V37, P321Witsch-Baumgartner M, 2000, AM J HUM GENET, V66, P402Waterham HR, 1998, AM J HUM GENET, V63, P329Kelley RI, 1998, AM J HUM GENET, V63, P322Fitzky BU, 1998, P NATL ACAD SCI USA, V95, P8181Wassif CA, 1998, AM J HUM GENET, V63, P55Ryan AK, 1998, J MED GENET, V35, P558Moebius FF, 1998, P NATL ACAD SCI USA, V95, P1899Tsukahara M, 1998, AM J MED GENET, V75, P118Cunniff C, 1997, AM J MED GENET, V68, P263Kelley RI, 1997, AM J MED GENET, V68, P251OPITZ JM, 1994, AM J MED GENET, V50, P344TINT GS, 1994, NEW ENGL J MED, V330, P107

Clinicopathological Factors Associated with Oncotype DX Risk Group in Patients with ER+/HER2- Breast Cancer

Oncotype DX (ODX), a 21-gene assay, predicts the recurrence risk in early breast cancer; however, it has high costs and long testing times. We aimed to identify clinicopathological factors that can predict the ODX risk group and serve as alternatives to the ODX test. This retrospective study included 547 estrogen receptor-positive, human epidermal growth factor receptor 2-negative, and lymph node-negative breast cancer patients who underwent ODX testing. Based on the recurrence scores, three ODX risk categories (low: 0–15, intermediate: 16–25, and high: 26–100) were established in patients aged ≤50 years (n = 379), whereas two ODX risk categories (low: 0–25 and high: 26–100) were established in patients aged >50 years (n = 168). Factors selected for analysis included body mass index, menopausal status, type of surgery, and pathological and immunohistochemical features. The ODX risk groups showed significant association with histologic grade (p = 0.0002), progesterone receptor expression (p p p = 0.023) in patients aged ≤50 years. In patients aged >50 years, tumor size (p = 0.022), Ki-67 (p = 0.001), and p53 expression (p = 0.001) were significantly associated with the risk group. Certain clinicopathological factors can predict the ODX risk group and enable decision-making on adjuvant chemotherapy; these factors differ according to age

Reversible Regulation of Enzyme Activity by pH-Responsive Encapsulation in DNA Nanocages

Reversible regulation of enzyme activity by chemical and physical stimuli is often achieved by incorporating stimuli-responsive domains in the enzyme of interest. However, this method is suitable for a limited number of enzymes with well-defined structural and conformational changes. In this study, we present a method to encapsulate enzymes in a DNA cage that could transform its conformation depending on the pH, allowing reversible control of the accessibility of the enzyme to the surrounding environment. This enabled us to regulate various properties of the enzyme, such as its resistance to protease-dependent degradation, binding affinity to the corresponding antibody, and most importantly, enzyme activity. Considering that the size and pH responsiveness of the DNA cage can be easily adjusted by the DNA length and sequence, our method provides a broad-impact platform for controlling enzyme functions without modifying the enzyme of interest

Analysis of Relative Scent Intensity, Volatile Compounds and Gene Expression in Freesia “Shiny Gold”

Scent is one of the most important economic traits in Freesia hybrida. “Shiny Gold”, a popular cultivar in South Korea, is widely cultivated for its scent. The relative scent intensity of “Shiny Gold” was approximately 16% higher in full-bloomed flower when compared to the yellow bud stage, while tissue-specifically, tepals showed higher intensity in electronic-nose (e-nose) analysis. E-nose analysis also showed that the scent intensity of “Shiny Gold” was higher and lower than “10C3-424” and “10C3-894”, respectively, and was similar to “Yvonne”. These results correlated to those of the olfactory tests. In total, 19 volatile compounds, including linalool, β-ocimene, D-limonene, trans-β-ionone were detected in gas chromatography–mass spectrometry analysis. Among these, linalool was the major volatile compound, accounting for 38.7% in “Shiny Gold”. Linalool synthase and TPS gene expression corresponded to the scent intensity of the four cultivars, with the lowest expression in the “10C3-424”. TPS 2, TPS 3, TPS 5, TPS 6 and TPS 8 were highly expressed in both bud and flower in “Shiny Gold”, while the expression of TPS 4 was lower, relative to other TPS genes in both the flowering stages. These results may aid in enhancing scent composition in Freesia cultivars using marker-assisted selection

Seroprevalence of SARS-CoV-2 antibodies during the third wave of COVID-19 in the Seoul metropolitan area of Korea

OBJECTIVES After the third wave of coronavirus disease 2019 (COVID-19), by mid-February 2021, approximately 0.16% of the Korean population was confirmed positive, which appeared to be among the lowest rates worldwide at that time. However, asymptomatic transmission is challenging for COVID-19 surveillance. Therefore, a community-based serosurvey of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection was conducted to understand the effectiveness of Korea’s strong containment strategy. METHODS We collected 5,002 residual sera samples from January 30 to March 3, 2021, from 265 medical facilities in Seoul, 346 in Gyeonggi Province, and 57 in Incheon. Sixty samples from tertiary institutions were excluded. We defined the sub-regions according to the addresses of the medical facilities where the specimens were collected. Elecsys Anti-SARS-CoV-2 was used for screening, and positivity was confirmed using the SARS-CoV-2 sVNT Kit. Prevalence was estimated using sampling weights and the Wilson score interval for a binomial proportion with a 95% confidence interval. RESULTS Among the 4,942 specimens, 32 and 25 tested positive for COVID-19 in the screening and confirmatory tests, respectively. The overall crude prevalence of SARS-CoV-2 antibodies was 0.51%. The population-adjusted overall prevalence was 0.55% in women and 0.38% in men. The region-specific estimation was 0.67% and 0.30% in Gyeonggi Province and Seoul, respectively. No positive cases were detected in Incheon. CONCLUSIONS The proportion of undetected cases in Korea remained low as of early 2021. Therefore, an infection control strategy with exhaustive tracing and widespread pre-emptive testing appears to be effective in containing community spread of COVID-19

HIMH0021 attenuates ethanol-induced liver injury and steatosis in mice

<div><p>Chronic alcohol consumption causes alcohol-induced lipogenesis and promotes hepatic injury by preventing the oxidation of hepatocellular fatty acids through the suppression of the activation of AMP-activated protein kinase (AMPK). HIMH0021, an active flavonoid compound, which is a component of the <i>Acer tegmentosum</i> extract, has been shown to protect against liver damage caused by alcohol consumption. Therefore, in this study, we aimed to determine whether HIMH0021 could regulate alcoholic fatty liver and liver injury in mice. Oral administration of 10 days of Lieber-DeCarli ethanol plus a single binge of 30% ethanol (chronic-plus-binge model) induced steatosis and liver injury and inflammation in mice, which appears similar to the condition observed in human patients with alcohol-related diseases. HIMH0021, which was isolated from the active methanol extract of <i>A</i>. <i>tegmentosum</i>, inhibited alcohol-induced steatosis and attenuated the serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) during hepatocellular alcohol metabolism, both of which promote lipogenesis as well as liver inflammation. Treatment with HIMH0021 conferred protection against lipogenesis and liver injury, inhibited the expression of cytochrome P4502E1, and increased serum adiponectin levels in the mice subjected to chronic-plus-binge feeding. Furthermore, in hepatocytes, HIMH0021 activated fatty acid oxidation by activating pAMPK, which comprises pACC and CPT1a. These findings suggested that HIMH0021 could be used to target a TNFα-related pathway for treating patients with alcoholic hepatitis.</p></div