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Background: Identifying the underlying etiology of developmental delay/intellectual disability (DD/ID) is challenging but important. The genetic diagnosis of unexplained DD/ID helps in the treatment and prognosis of the disability in patients. In this study, we reported our experience of using whole exome sequencing (WES) of children with unexplained DD/ID. Methods: We conducted a retrospective analysis of WES results of children under 19 years of age with unexplained DD/ID between January 2020 and December 2021. The demographic data of all patients and variants identified through WES were evaluated. Furthermore, we evaluated the clinical characteristics that influenced the identification of genetic causes. Results: Forty-one patients with DD/ID were included, of whom 21 (51.2 %) were male. The average age at symptom onset was 1.6 ± 1.3 years, and the duration from symptom onset to diagnosis was 3.1 ± 3.7 years. Hypotonia was the most common symptom (17 patients, 41.5 %), and epilepsy was confirmed in 10 patients (24.4 %). Twenty-two pathogenic/likely pathogenic variants were identified in 20 patients, and three variants of uncertain significance were identified in three patients. Family-based trio Sanger sequencing for candidate variants of 12 families was conducted; 10 variants were de novo, one variant paternally inherited, and two variants compound heterozygous. The diagnostic yield of WES for DD/ID was 48.8 % and was significantly high in patients with an early onset of DD/ID and facial dysmorphism. In contrast, patients with autism spectrum disorder (ASD) were more likely to have negative WES results compared with others without ASD. Conclusion: The diagnostic yield of WES was 48.8 %. We conclude that patients’ characteristics, such as dysmorphic features and the age of symptom onset, can predict the likelihood that WES will identify a causal variant of a phenotype.

In this study, we aimed to provide basic data on the vegetation structure of the Picea jezoensis forest of Gyebangsan, Sobaeksan, Deogyusan, and Jirisan in South Korea and Baekdusan in China and to compare the abiotic and biotic factors correlated with the species composition of Picea jezoensis forests from South Korea and China. The Picea jezoensis forest stand structure was more stable in the Baekdusan region of China than in South Korea. In Sobaeksan, South Korea, a severe decline in Picea jezoensis was observed, and the basal area occupied by the species (2.89 ± 1.11 ㎡/ha; approximately 8% of the total basal area) was lower than that occupied by broad-leaved trees.

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS.

The lack of plant-side energy storage analysis to support nuclear power plants (NPP), has setup this research endeavor to understand the characteristics and role of specific storage technologies and the integration to an NPP. The paper provides a qualitative review of a wide range of configurations for integrating the energy storage system (ESS) to an operating NPP with pressurized water reactor (PWR). The role of ESS technologies most suitable for large-scale storage are evaluated, including thermal energy storage, compressed gas energy storage, and liquid air energy storage. The methods of integration to the NPP steam cycle are introduced and categorized as electrical, mechanical, and thermal, with a review on developments in the integration of ESS with an operating PWR. By adopting simplified off-design modeling for the steam turbines and heat exchangers, the results show the performance of the PWR steam cycle changes with respect to steam bypass rate for thermal and mechanical storage integration options. Analysis of the integrated system characteristics of proposed concepts for three different ESS suggests that certain storage technologies could support steady operation of an NPP. After having reviewed what have been accomplished through the years, the research team presents a list of possible future works.

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroid-stimulating hormone receptor (TSHR) gene. In this report, we describe a case of non-autoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves’ disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and anti-thyroid-stimulating hormone (TSH) receptor antibody were all negative. During follow-up, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Whole-exome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial non-autoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant.

As part of the mushroom surveys in the unexplored areas of Korea in 2019 and 2020, a phalloid fungus was found in a saline sand beach. The specimen was mainly characterized by its reticulate pileus and violet volva with well-developed rhizomorphs. Based on ribosomal DNA internal transcribed spacer (ITS) sequencing and morphological characteristics, the specimen was identified as Phallus hadriani. Additionally, a morphological comparison of closely related species was performed. This study describes for the first time the presence of P. hadriani in Korea.

A taxonomic revision of Korean Ligustrum species is presented based on critical observations of wild populations and herbarium specimens. Species delimitations were re-evaluated on the basis of morphological characters, such as plant height, texture and shape of leaf, shape of inflorescence, shape of drupe and seed, and texture of endocarp. From the results, L. leucanthum (= L. acutissimum), being recorded in Korea, is excluded from the Korean flora because it comes from misidentifications of the herbarium specimen, whose identity is L. obtusifolium. We also treated L.obtusifolium subsp. suave and L. obtusifolium subsp. microphyllum as synonyms of L.obtusifolium. Ligustrum quihoui var. latifolium is placed into synonym of L. quihoui. In addition, the record of L. ovalifolium from Korea has proved to be a misidentification of herbarium specimens, the correct identity of which is L. salicinum. Consequently, we recognized the following six Ligustrum species in Korea: L. japonicum, L. lucidum, L. quihoui, L. salicinum, L. foliosum, and L. obtusifolium. Photographs and a key to six species of Ligustrum were provided in addition to complete descriptions including information on nomenclatural types, synonyms, and taxonomic notes.

To improve our understanding of the relationship between soil higher fungi (belonging to Ascomycota and Basidiomycota) and Abies koreana, we surveyed A. koreana soil fungal communities in a forest in Mt. Halla, Jeju Island, Korea by next-generation sequencing (Illumina Miseq). To confirm the soil higher fungal communities, we collected two types of soils from a defined plot: soils with dead (AKDTs) and living A. koreana (AKLTs), respectively. Soil fungi were classified into 2 phyla, 19 classes, 64 orders, 133 families, 195 genera, and 229 OTUs (895,705 sequence reads). Nonmetric multidimensional scaling (NMDS) showed significantly different soil higher fungal communities between AKDTs and AKLTs (p

Longitudinal bone growth is primarily mediated by the growth plate, which is a specialized cartilaginous structure. Aggrecan, encoded by ACAN, is a primary proteoglycan component of the extracellular matrix in both the growth plate and articular cartilage. Aggrecanopathies have emerged as a phenotype of genetic skeletal disease in humans. A heterozygous ACAN mutation causes short stature, premature growth cessation, and accelerated bone age maturation. We report the case of a 15-year-old boy with familial short stature, with height of 149 cm (Korean standard deviation score [SDS] of -3.6) and weight of 50.5 kg (-1.48 SDS). He presented with mild midfacial hypoplasia, frontal bossing, a broad chest, and a short neck. The father's and mother's heights were 150 cm (-4.8 SDS) and 153 cm (-1.69 SDS), respectively. The patient's bone age was 2–3 years more advanced than his chronological age, and no endocrine abnormalities were detected. Whole-exome sequencing followed by Sanger sequencing revealed a heterozygous ACAN mutation, c.512C>T (p.Ala171Val), in both the proband and his father. Short stature is generally associated with a delayed bone age, and this case suggests that ACAN mutations may be the most likely etiology among patients with short stature and an advanced bone age and should warrant early treatment.

Most macrofungi are cosmopolitan, occurring in both tropical and temperate regions. Studies on diversity and distribution of the mushroom flora in Korea are mainly conducted in major national parks and forest, but there are few studies on species distributed in urbanized areas. As part of the Korea National Arboretum project, we investigated the diversity of mushrooms through examining the distribution of mushrooms in Gyeongsang Province from May to September in 2017. In this province, we surveyed urbanized areas comprising three cultural heritage protection zones (Salix chaenomeloides forest, Tongdo Temple, Placenta Chamber of King Sejong's Princes), two urban parks (Duryu and Amnam parks), and 20 legally protected trees (such as Ginko biloba, Pinus densiflora, Quercus acutissima, Salix hallaisanensis, Zelkova serrata and so on). Consequently, 37 species on legally protected trees, 48 species in urban parks, and 84 species in cultural heritage protection zones were confirmed. A total of 37 families, 90 genera, and 139 species were identified. Of those, three species were confirmed for the first time in Korea. This study provides the basic data for the preparation of protection management protocols for macrofungal flora on legally protected trees and in cultural property protection areas.

Floating-Harbor syndrome is a rare autosomal dominant disorder that presents with short stature, facial dysmorphism, significantly delayed bone age, skeletal abnormalities, speech and language problems, and intellectual disabilities. Although short stature is one of the main clinical manifestations, use of growth hormone therapy in Floating-Harbor syndrome patients has been limited. Only a few reports have investigated the response to growth hormone therapy with regard to final adult height. We report the case of a 7-year-old girl with FloatingHarbor syndrome and a heterozygous mutation, c.7330C > T (p.Arg2444*), in the SRCAP gene. The patient exhibited dysmorphic facial features, severe intellectual disabilities, obsessive-compulsive and aggressive behaviors, and short stature without growth hormone deficiency. Her height standard deviation score improved after 55 months of growth hormone therapy.

Since 2013, more than 100 Entoloma (Entolomataceae, Agaricales) collections have been made during field investigations of mushroom flora in Korea. Among these collections, three Entoloma species were identified as new records from Korea. Morphological examinations were made based on the macro- and micro-morphological features of the isolates collected during field visits. To ensure the identity of the isolates at the species level, DNA sequences from four gene regions (rpb2 , ITS, 28S, and mtSSU) were compared. To the best of our knowledge, these are the first records of E. aprile, E. chytrophilum, and E. hirtipes in Korea. Comprehensive descriptions, photographs, and phylogenetic examinations are presented here.

The Tian Shan mountain system is one of the large mountain ranges located in Central Asia. This region is globally recognized as mountain ranges, offering inestimable wealth in fauna and flora with significant biodiversity values. We surveyed macrofungal diversity of Tian Shan in Kyrgyzstan from 2016 to 2018. A collection of macrofungi was made, and these were subjected to sequence comparisons and phylogenetic analysis to ensure the identity of the collected macrofungi. Of those collected, 95 out of 100 specimens were successfully sequenced and compared with those of other related species retrieved from GenBank. The sequenced specimens were classified into 2 phyla, 8 orders, 24 families, 47 genera, and 57 species, based on current taxonomic concepts (combining morphology and phylogeny). To the best of our knowledge, this study provides the first well-documented checklist and phylogenetic analysis of macrofungi recovered from the Tian Shan mountains in Kyrgyzstan.

During the 2014 survey of the mushroom flora of Gwangneung forest in South Korea, we collected two specimens of boletoid mushroom growing on a felled tree of Pinus koraiensis. These specimens were characterized by a light brown to reddish-brown pileus with appressed tomentum, pore surface bluing instantly when bruised, golden-yellow mycelium at the base of stipe, and lignicolous habitat. Both specimens were identified as Buchwaldoboletus lignicola, a rare basidiomycete, based on morphological characteristics and sequences of internal transcribed spacer (ITS; fungal barcode). Here, we describe these specimens and provide the first report of this genus in South Korea.

Abstract Background Current efforts on the optimization of the two-stage cultivation using stress-induced lipid accumulation have mostly focused only on the lipid induction stage. Although recent studies have shown that stress-induced lipid accumulation is affected by the physiological status of the cells harvested at the preceding cultivation stage, this issue has hardly been examined hitherto. Such a study needs to be carried out in a systematic way in order to induce lipid accumulation in a consistent and predictable manner with regard for variances seen at the cultivation stage. Results After a photoautotrophic cultivation of Chlorella sorokiniana HS1 in a modified BG11, harvested cells were re-suspended in the fresh medium, and then NaCl was added as the sole stress inducer with light illumination to induce additional accumulation of lipid. Effects of culture temperature on the lipid accumulation were analyzed by the Kruskal–Wallis test. From the microscopic observation, we had observed a definite increase in lipid body induced by the stress since the cell entered a stationary phase. A multiple linear regression model was developed so as to identify significant parameters to be included for the estimation of lipid induction. As a result, several key parameters at the end of cultivation, such as cell weight, total lipid content, chlorophyll a in a cell, and Fv/Fm, were identified as the important proxy variables for the cell’s physiological status, and the modeling accuracy was achieved by 87.6%. In particular, the variables related to Fv/Fm were shown to have the largest influence, accounting for 65.7% of the total variance, and the Fv/Fm had an optimal point of maximum induction at below its average. Clustering analysis using the K-means algorithm indicated that the algae which are 0.15 pg cell−1 or less in chlorophyll concentration, regardless of other conditions, had achieved high induction results. Conclusion Experimental results showed that it usually achieves high lipid induction after the cells naturally end their division and begin to synthesize lipid. The amount of lipid induction could be estimated by the selected proxy variables, and the estimation method can be adapted according to practical situations such as those with limited measurements.

Pseudohypoparathyroidism (PHP) is a rare, heterogeneous disorder characterized by end-organ resistance to parathyroid hormone (PTH). PTH resistance causes elevated PTH levels, hypocalcemia, and hyperphosphatemia. Since hypocalcemia causes life-threatening events, early diagnosis is crucial. However, the diagnosis of PHP is elusive during infancy because PHP is usually diagnosed with hypocalcemia-induced symptoms, which develop later in childhood when calcium requirements increase. A 1-month-old girl was referred to our clinic for elevated thyroid-stimulating hormone (TSH) levels on newborn screening. When measured 1 month after levothyroxine treatment, her TSH level normalized. At 4-months-old, multiple hard nodules were noted on her trunk. A punch skin biopsy revealed osteoma cutis associated with Albright’s hereditary osteodystrophy, a major characteristic of PHP. We performed targeted sanger sequencing of the GNAS gene and detected a heterozygous variant c.150dupA (p.Ser51Ilefs*3) in both the proband and her mother, causing frameshift and premature termination mutations. The patient was diagnosed with PHP Ia when she had normal calcium, phosphorous, and PTH levels. We report the early diagnosis of PHP Ia without hypocalcemia. It emphasizes the importance of meticulous physical examination in patients with congenital hypothyroidism.

Purpose Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional SLC5A2 mutations and examine their phenotypic and genetic characteristics in a Korean FRG cohort. We also reviewed the literature and summarized the genotypes of all Korean patients with FRG. Methods A genetic analysis was conducted by directly sequencing all 14 exons of the SLC5A2 gene and their flanking regions in six unrelated Korean children with FRG and their family members. Novel non-synonymous single-nucleotide polymorphisms were identified and compared with known mutations that are repeatedly detected in the Korean population. Results We found two novel mutations [c.274G>A (G92S) and c.1168C>T (L390F)] and one known [c.1382G>A (S461N)] mutation in each family and one recurrent mutation [c.1346G>A (G449D) (rs768392222)] in two pedigrees. The recurrent G449D was predicted to be “possibly damaging,” with a score of 0.883 in Polyphen-2, while G92S, L390F, and S461N were predicted to be “probably damaging,” with scores of 1.000, 0.999, and 0.996, respectively. Conclusions Two novel, one previously reported, and one recurrent mutation were identified in six Korean FRG pedigrees as causative mutations of renal glucosuria. Sequence variations in the SLC5A2 gene were frequently detected in children with persistent isolated glucosuria. A long-term follow-up of this FRG cohort is needed to understand how these specific SGLT2 mutations impair kidney function and energy homeostasis.

An investigation on the habitation of Callipogon relictus Semenov, 1899 in Gwangneung forest was carried out, where the Korea National Arboretum is located. In an investigation spanning the last eleven years (2007–2017), 22 emergence holes, nine pupal chambers, six adults, and two larvae of C. relictus were identified. In this study, biological information about habitation of C. relictus is provided by comparing and combining the results of this investigation with a survey conducted in Ussurisky Nature Reserve, Russia, in 2015. The distribution is also reviewed to include the Korean Peninsula and a new location of South Korea is added to the distribution for C. relictus.

The composition of monocotyledonous geophytes of the Fergana Valley, one of the most densely populated regions of Middle Asia, consisting of 206 species, 27 genera, and 10 families was documented. Among them, four species were detected for the first time in the Uzbekistan flora and eight species were added to the composition of the mountain ridges surrounding the valley. The major families are Amaryllidaceae (84; 40.77%), Liliaceae (63; 30.58%), Iridaceae (22; 10.67%), and Asphodelaceae (13; 6.46%). The flora is dominated by the Mountain Middle Asian elements—136 species that are 67% of all monocotyledonous geophytes of the Fergana Valley. Forty-five species are endemic or subendemic species of the Fergana Valley. Twenty-two species of them are included in The Red Data Book of the Republic of Uzbekistan. Keywords: Flora, Geophytes, Fergana Valley, Mountain Central Asia, Endemic

A new white-flowered species of Gagea is described from the Sary-Chelek Nature Reserve (Chatkal Range, Kyrgyzstan), which grows at a relatively low elevation in shallow shady niches on gorge walls formed by conglomerates. In its habit and flower color, this species resembles G. delicatula but differs from the latter mainly in the number and location of bulbils in generative and vegetative individuals. Keywords: Chatkal Range, Gagea Salisb., Liliaceae, Sary-Chelek Reserve, Western Tian Shan

Gymnopilus junonius, a well-known poisonous mushroom, is distributed worldwide. It contains a hallucinogenic alkaloid psilocybin and several other bioactive compounds. The mitochondrial genome, a circular DNA molecule of 161,145 bp, comprises 15 protein-coding genes, 24 transfer RNA genes, and 2 ribosomal RNA genes. The guanine-cytosine content was 31.56%. Based on the mitochondrial genome sequence, a phylogenetic tree was constructed to demonstrate the phylogenetic relationship. In this study, the phylogenetic positions of G. junonius and its related genera were determined.

We report a complete chloroplast genome sequence of Malus sieversii. The CP genome was 160,223 bp in length with a typical quadripartite structure. Length of large single-copy (LSC) was 88,334 bp, whereas small single-copy (SSC) was 19,179 bp in length. A pair of inverted repeats (IR) were 26,355 bp. In total, 128 genes were found including 83 protein-coding genes, 37 tRNA genes, and 8 rRNA genes. The phylogenetic analysis on concatenated data set retrieved from 78 protein-coding genes revealed that M. sieversii was closely related with both M. ×domestica and M. sylvestris.

We analyzed the complete mitochondrial genome of a social wasp, Vespa simillima simillima from South Korea prior to a systematic study on Korean Vespidae. The mitogenome is 16,740 bp in length, includes 13 protein-coding genes (PCGs), 22 tRNAs, 2 rRNAs, and a 228 bp short A + T-rich region. The overall base composition is 82.0% AT and 18.0% GC. The maximum-likelihood analysis suggested that V. s. simillima is closely related to V. bicolor, another species of Vespidae.

Hypoglycemia was detected in a 15-year-old girl due to loss of consciousness. She was diagnosed with Graves' disease and was being treated with methimazole for the past 4 months. A paradoxically increased insulin levels was found when she suffered from the hypoglycemic episode. An imaging study showed no mass lesion in the pancreas, and insulin antibodies were found in the serum. She was diagnosed with insulin autoimmune syndrome. Her HLA typing was performed, and it revealed HLA-DRB1 *04:06. The patient was treated with a corticosteroid for 2 months. After discontinuing the steroid, the insulin antibody titer decreased dramatically, and she did not have any episode of hypoglycemia since. This is the first report of insulin autoimmune syndrome in a Korean girl, and we have revealed the connection between HLA type and insulin autoimmune syndrome in Korea.

Electrode material capacities and cycle performances must improve for large-scale applications such as energy storage systems. Numerous investigations have developed cathode materials to improve lithium-ion batteries (LIBs) performance: however, few have examined new anode materials. In this study, we synthesized a Ni-B/reduced graphene oxide (RGO) composites via a simple chemical reaction method to enhance the stability of electrodes in LIBs. A well-dispersed B, as a component of Ni-B composite, shortened the diffusion distance of lithium ion and allowed for the reversible storage and release of lithium ions. The incorporation of RGO significantly enhanced the dispersion of the Ni-B particles, preventing aggregation and enhancing the electrochemical performance. The long-term cyclic capacity of Ni-B/RGO reached approximately 1200 mAh g−1 at 400 mA g−1. Moreover, well-dispersed B from the reduction of B2O3 enhanced reactions with Li ions, gradually increasing the capacity. After several cycles, Ni-B/RGO maintained its structure without volume changes and with a uniform dispersion of elements. Therefore, Ni-B/RGO exhibited high stability over long cycles, leading to high reversibility. The combination of these features renders Ni-B/RGO a promising lithium storage material for LIBs.

Hydrangea luteovenosa is a member of the family Hydrangeaceae. The complete chloroplast genome sequence of H. luteovenosa was characterized from MiSeq (Illumina Co.) pair-end sequencing data. The chloroplast genome of H. luteovenosa was 157,494 bp in length with a pair of inverted repeats (IRs) (25,126 bp) which were separated by a large single-copy (LSC) (86,596 bp) and a small single-copy regions (SSC) (18,646 bp). It contained 129 genes including 85 protein-coding genes, 36 tRNA genes, and 8 ribosomal RNA genes. The maximum-likelihood phylogenetic analysis with the previously reported chloroplast genomes showed that H. luteovenosa is most closely related to the tribe Hydrangeeae.

In this study, we predict the habitat suitability of Thuja koraiensis, an endemic plant species on the Korean Peninsula, and establish management strategies for its conservation. To achieve this, field surveys were conducted on the Korean Peninsula and northeastern China to determine species occurrence points. An ensemble modeling approach was implemented, combining the Random Forest, Generalized Boosted Model, and Generalized Linear Model algorithms, to explore suitable habitats. Our results show that under current climate conditions, wide suitable habitats can be found in South Korea. Furthermore, our analysis indicated that elevation had the greatest impact on the availability of suitable habitats. On the basis of the shared socioeconomic pathway data presented in the Intergovernmental Panel on Climate Change (IPCC) 6th Assessment Report, changes in future habitat distribution were observed for the 2050s (2040-2060) and 2070s (2060-2080). The results indicated a significant decrease in the availability of suitable habitats in South Korea, while relatively wide suitable habitats were observed in North Korea. In particular, the elevation of suitable habitat areas gradually increased, suggesting that future suitable habitats may become isolated. These research findings substantiate the necessity for implementing appropriate measures to conserve and manage the climate-vulnerable species T. koraiensis to ensure its long-term preservation and sustainable management. [ABSTRACT FROM AUTHOR]

Thuja koraiensis Nakai (Cupressaceae) is an endangered conifer species that holds significant ecological importance as an endemic plant in Korea. To facilitate the adaptive management of ecosystems on the Korean peninsula in the face of climate change, the use of species distribution models (SDMs) can be instrumental in supporting climate-adaptive forest restoration programs. In this study, we collected occurrence and bioclimatic data from remote sensing to analyze the current and projected distribution of T. koraiensis. We employed four different SDMs, namely, the general additive model, generalized boosted model, general linear model, and random forest, to predict the potential distribution of T. koraiensis under both current and future climate scenarios. To assess the risk of extinction for this species, we utilized ensemble-averaged models to estimate the extent of area loss in currently suitable habitats for T. koraiensis, with a focus on stable true skill statistic (TSS) results exceeding 0.9. Encouragingly, our results indicate that T. koraiensis is likely to persist into the 2070s, specifically when considering the representative concentration pathway (RCP) 4.5 scenario for climate change on the Korean peninsula. These findings provide robust predictions regarding the future habitat occupancy probabilities of T. koraiensis populations across South Korea. Moreover, they contribute to the development of climate-adaptive forest restoration programs, taking into account long-term perspectives. [ABSTRACT FROM AUTHOR]

This article discusses the use of personal digital assistants (PDAs) in transfusion practices to improve patient safety. The authors conducted a retrospective analysis of PDA data collected at a single tertiary hospital in Korea. They found that PDAs were used for bedside checks in 95% of transfusion cases, and the overall PDA mismatch rate was 0.17%. The study identified 63 near-miss events that could have resulted in incorrect blood component transfusions, including 23 ABO-incompatible transfusions. The authors suggest that incorporating PDAs into transfusion practices can enhance the quality of care and reduce the risk of transfusion errors. [Extracted from the article]

Objective: The present study investigated whether protodioscin (PD), a steroidal saponin mainly found in rhizome of Dioscorea species, alleviates oxidative stress-induced damage of porcine oocytes during in vitro maturation. Methods: Oocytes were treated with different concentrations of PD (0, 1, 10, 100, and 200 µM) in the presence of 200 µM H2O2 during in vitro maturation. Following maturation, spindle morphology and mitogen-activated protein kinase activity was assessed along with reactive oxygen species level, GSH activity, and mRNA expression of endogenous antioxidant genes at the MII stage. On the day 7 after parthenogenetic activation, blastocyst formation rate was calculated and the quality of embryo and mRNA expression of development-related genes was evaluated. Results: Developmental competence was significantly poorer in the 0 µM PD-treated (control) group than in the non-treated (normal) and 10 µM PD-treated (10PD) groups. Although the reactive oxygen species level did not significantly differ between these three groups, the glutathione level and mRNA expression of antioxidant genes (superoxide dismutase 1 [SOD1], SOD2, nuclear factor erythroid 2-related factor 2 [Nrf2], and hemo oxygenase-1 [HO-1]) were significantly higher in the normal and 10PD groups than in the control group. In addition, the percentage of oocytes with defective spindle and abnormal chromosomal alignment was significantly lower and the ratio of phosphorylated p44/42 to total p44/42 was significantly higher in the normal and 10PD groups than in the control group. The total cell number per blastocyst was significantly higher in the 10PD group than in the control group. The percentage of apoptotic cells in blastocysts was highest in the control group; however, the difference was not significant. mRNA expression of developmentrelated genes (POU domain, class 5, transcription factor 1 [POU5F1], caudal type homeobox 2 [CDX2], Nanog homeobox [NANOG]) was consistently increased by addition of PD. Conclusion: The PD effectively improves the developmental competence and quality of blastocysts by protecting porcine oocytes against oxidative stress. [ABSTRACT FROM AUTHOR]

Morning glory syndrome (MGS) is a rare congenital optic disc anomaly with a characteristic fundal finding with severe visual impairment. It may occur in association with various systemic manifestations, even though most of the reported cases were isolated. A 6-year-old male visited the nephrology clinic with a history of microscopic hematuria and at the age of 12 years, he was diagnosed thin glomerular basement membrane nephropathy by kidney biopsy. After the following years, the patient had progressive deterioration of visual acuity, and diagnosed as MGS. Whole Exome Sequencing of this patient and his mother revealed heterozygous COL4A4 mutations [c.81_86del (p.Ile29_Leu30del)]. It is more reasonable to consider MGS seen in this patient as a coincidental finding of autosomal dominant Alport syndrome. To our knowledge, this case represents the first case report of autosomal dominant Alport syndrome associated with MGS. [ABSTRACT FROM AUTHOR]

Due to natural and human factors，dunhuang frescoes in China have gradually degenerated. China has conducted digital transformation of frescoes since 1990. However, it requires expensive research costs. Most of the visitors passively accept transformation contents and lack subjective participation. The paper focuses on produces a prototype of Dunhuang frescoes on the CoSpaces EDU. It was implemented as a metaverse through procedures such as transforming the cave into 3D, mapping images to the cave model and developing CoBlocks. The research puts forward a more specific methodology without expensive costs of development. The paper makes it easier to realize the immersive and interactive virtual Dunhuang frescoes world, to improve the tourism contents and educational effect. This research carries on the statistics to the product result which develops according to the user experience of 100 different ages, has obtained the good feedback. The research results need to be improved is to strengthen the processing of graphic details. Therefore, Optimization and improvement of the result will be carried out in the future research. [ABSTRACT FROM AUTHOR]

Objective: If fertilization does not occur within a specific period, the quality of unfertilized oocytes in the oviduct (in vivo aging) or in culture (in vitro aging) will deteriorate over time. Icariin (ICA), found in all species of Epimedium herbs, has strong antioxidant activity, and is thought to exert anti-aging effects in vitro. We asked whether ICA protects oocytes against age-related changes in vitro. Methods: We analyzed the reactive oxygen species (ROS) levels and expression of anti- oxidant, maternal, and estrogen receptor genes, and along with spindle morphology, and the developmental competence and quality of embryos in the presence and absence of ICA. Results: Treatment with 5 μM ICA (ICA-5) led to a significant reduction in ROS activity, but increased mRNA expression of glutathione and antioxidant genes (superoxide dismutase 1 [SOD1], SOD2, peroxiredoxin 5, and nuclear factor erythroid 2-like 2), during aging in vitro. In addition, ICA-5 prevented defects in spindle formation and chromosomal alignment, and increased mRNA expression of cytoplasmic maturation factor genes (bone morphogenetic protein 15, cyclin B1, MOS proto-oncogene, serine/threonine kinase, and growth differentiation factor-9). It also prevented apoptosis, increased mRNA expression of antiapoptotic genes (BCL2-like 1 and baculoviral IAP repeat-containing 5), and reduced mRNA expression of pro-apoptotic genes (BCL2 antagonist/killer 1 and activation of caspase-3). Although the maturation and cleavage rates were similar in all groups, the total cell number per blastocyst and the percentage of apoptotic cells at the blastocyst stage were higher and lower, respectively, in the control and ICA-5 groups than in the aging group. Conclusion: ICA protects oocytes against damage during aging in vitro; therefore, it can be used to improve assisted reproductive technologies. [ABSTRACT FROM AUTHOR]

Background: Patients with ongoing or expected bleeding require platelet (PLT) transfusions; however, owing to the testing required after a blood donation, manufacturing PLT products may take 1.5-2.0 days after a request is made. This supply-demand mismatch leads clinicians to retain spare PLTs for transfusions, leading to increased PLT discard rates. We developed a PLT inventory management program to supply PLTs more efficiently to patients requiring PLT transfusions within the expiration date, while reducing PLT discard rates. Methods: PLT concentrates (58,863 and 58,357 units) and apheresis products (7,905 and 8,441 units) were analyzed from May 2015 to November 2017 and from December 2017 to January 2020, respectively. We developed a program to manage total PLT inventories and prospective PLT transfusion patients based on blood type, blood product, and remaining period of efficacy; the program facilitates PLT preparation transfer to non-designated patients within the remaining period of efficacy. Results: The overall PLT concentrate discard rate was 3,254 (2.78%): 1,811 (3.07%) units before and 1,443 units (2.41%) after program application (P <0.001). The discard rate owing to expiration was reduced from 69 units (3.81%) before to two units (0.14%) after program application (P <0.001). Conclusions: This program can guide the allocation of PLT preparations based on the remaining period of efficacy, enabling PLT products to be used before their expiration date and reducing PLT product discard rate. [ABSTRACT FROM AUTHOR]

Nonautoimmune hyperthyroidism is a very rare cause of congenital hyperthyroidism that is usually caused by an activating mutation in the thyroidstimulating hormone receptor (TSHR) gene. In this report, we describe a case of nonautoimmune hyperthyroidism in a patient with TSHR mutation. Our patient was the younger of a set of twins born at 36 weeks and 6 days of gestation. The patient was noted to be more irritable than the older twin at 80 days of age, and the mother was taking methimazole for Graves' disease that had been diagnosed 12 years prior. Therefore, a thyroid function test was conducted for the patient. The results revealed subclinical hyperthyroidism, and tests of antithyroglobulin antibody, antithyroid peroxidase antibody, and antithyroidstimulating hormone (TSH) receptor antibody were all negative. During followup, at around 4 months of age, free T4 increased to 2.89 ng/dL, and TSH was still low at 0.01 μIU/mL; therefore, 3 mg/day of methimazole was initiated. Wholeexome sequencing showed a heterozygous variant of c.1800C>T (p.Ala627Val) in the TSHR gene. Testing in the family confirmed an identical variant in the patient's mother, leading to diagnosis of familial nonautoimmune hyperthyroidism inherited in an autosomal dominant pattern. This is the second report of A627V confirmed as a germline variant. [ABSTRACT FROM AUTHOR]