Mucolipidosis II (ML II) or inclusion cell disease (I-cell disease) is a rarely occurring autosomal recessive lysosomal enzyme-targeting disease. This disease is usually found to occur in individuals ...aged between 6 and 12 months, with a clinical phenotype resembling that of Hurler syndrome and radiological findings resembling those of dysostosis multiplex. However, we encountered a rare case of an infant with ML II who presented with prenatal skeletal dysplasia and typical clinical features of severe secondary hyperparathyroidism at birth. A female infant was born at $37^{+1}$ weeks of gestation with a birth weight of 1,690 g (<3rd percentile). Prenatal ultrasonographic findings revealed intrauterine growth retardation and skeletal dysplasia. At birth, the patient had characteristic features of ML II, and skeletal radiographs revealed dysostosis multiplex, similar to rickets. In addition, the patient had high levels of alkaline phosphatase and parathyroid hormone, consistent with severe secondary neonatal hyperparathyroidism. The activities of ${\beta}$-D-hexosaminidase and ${\alpha}$-N-acetylglucosaminidase were moderately decreased in the leukocytes but were 5- to 10-fold higher in the plasma. Examination of a placental biopsy specimen showed foamy vacuolar changes in trophoblasts and syncytiotrophoblasts. The diagnosis of ML II was confirmed via GNPTAB genetic testing, which revealed compound heterozygosity of c.3091C>T (p.Arg1031X) and c.3456_3459dupCAAC (p.Ile1154GlnfsX3), the latter being a novel mutation. The infant was treated with vitamin D supplements but expired because of asphyxia at the age of 2 months.
웨슬리의 성만찬 신학 이세형; Se Hyoung Lee
한국개혁신학,
11/2011, Letnik:
32
Journal Article
이 논문은 "은혜의 수단"과 "성찬을 규칙적으로 시행해야 할 의무"라는 웨슬리의 설교 두 편과 『웨슬리 형제의 성만찬 찬송』( Hymns on the Lord`s Supper)에 나타난 웨슬리의 성만찬을 이해하고 이를 통해 한국교회의 예배 갱신을 제안한다. 웨슬리의 성만찬은 하나님께서 제정하신 은총이 임하는 통로요 수단이다. 성만찬에서 신자들은 그리스도의 ...고난을 기억하고, 그리스도의 현재적 은총을 경험하며, 종말로 하나님 나라의 백성임을 보증 받는다. 또한 성만찬에서 그리스도께서 우리를 위한 봉헌제물이 되시고 우리도 주님을 향해 봉헌제물이 됨으로써 주님과 연합을 경험한다. 이 연합은 생명의 역환으로서 구원의 자리이다. 웨슬리는 초대 교회를 모델로 삼아 성만찬을 예배 속에 회복시켰고, 자신의 부흥운동에 활용하였다. 성찬상에 나오는 자들은 겸손히 자신을 낮추어 스스로 제물이 되시고 동시에 자신들을 위해 대언하시는 대제사장으로서의 주님을 만났다. 이 겸손한 봉헌이 영국 교회를 새롭게 한 원동력이었다. 오늘 한국의 교회는 웨슬리의 성만찬에서 만나는 복음적 회심, 성화적 양육, 겸손한 봉헌의 영성이 절실하게 요청되고 있다.
This article is to both understand John Wesley`s Lord`s Supper by exploring his two sermons, "The Means of Grace" and "The Duty of Constant Communion," and his Hymns on the Lord`s Supper and to suggest the renewal of Korean church worship. Wesley understands the Lord`s Supper as the means of God`s grace. In the Lord`s Supper, the partakers remember the suffering of Jesus Christ, experience the spiritual presence of the Lord Jesus Christ in the Holy Spirit, and have the pledge to confirm that they are people of the Heavenly Kingdom. Also, in the Lord`s Supper, Christ himself becomes an offering for all of us and we are an offering ourselves to the Lord by being united in Christ. I called this unity as the exchange of life between the partaker and Jesus Christ. John Wesley recovered the power of the Lord`s Supper in Christian worship by appealing to the Early Church model and he used the Lord`s Supper as the means of his evangelical movement. In this sense, his sacrament is an evangelical sacrament. The partakers in his days humbly came to the Lord`s table and met Jesus Christ who became an offering and, at the same time, the priest. This humble offering was the dynamic power which brought about growth in the English church. Today, we the Korean churches need earnestly the spirit of such evangelical conversion, along with sanctificational nurture, and humble offering.
AIM:To investigate the clinicopathologic features of patients with extra-gastrointestinal stromal tumors(EGISTs)in South Korea.METHODS:A total of 51 patients with an EGIST were identified.The ...clinicopathologic features,including sex,age,location,tumor size,histology,mitotic rate,immunohistochemical features,genetic status and survival data,were analyzed.RESULTS:The median age was 55 years(range:29-80years),and male:female ratio was 1:1.04.The most common site was in the mesentery(n=15)followed by the retroperitoneum(n=13)and omentum(n=8).The median tumor size was 9.0 cm(range:2.6-30.0cm)and the median mitotic rate was 5.0/50HPF.(1/50-185/50).KIT was analyzed in 16,which revealed 10cases with wild-type KIT and 6 cases with an exon 11mutation.Among 51 patients,31 patients had undergone surgery,and 10 had unresectable disease and had taken palliative imatinib,which resulted in 22.7 mo of progression-free survival.Of the patients who had undergone surgery,18 did not take adjuvant imatinib,and 8 of these were categorized as"high risk"according to the risk criteria.However,the relapse-free survival was not different(P=0.157)between two groups.CONCLUSION:Because the biologic behaviors of GISTs differ according to the location of the tumor,a more stratified strategy is required for managing EGISTs including incorporation of molecular features.
The principal objective of this study is to provide a new avenue by which to understand God and the problem of evil by employing the concept of Tao in the Taoist cannon, Tao Te Ching. In so doing, ...this study is centered on the reinterpretation of God and evil from the Taoist perspective. In the Taoist philosophy, Tao, as the ultimate reality, has bipolarity: yin and yang, and receptivity and creativity. This bipolarity creates a third factor, "relation," which creates a trinitarian relation--Tao, te, and wu-wei. The interrelationship of Tao, te, and wu-wei as well as the intrarelationship of that trinitarian structure is similar to those of the Christian trinity,--God the Creator, the Redeemer, and the Sustainer--not only in their anthropological approach, but also in their cosmological approach. In this trinitarian relation, each element functions as the principle of connection to the other two elements based on the yin-yang relation. However, in a Taoist theology, wu-wei (God the Spirit) completes the trinitarian structure. In a Taoist theology, as God the Spirit, wu-wei has both an ontological mode (non-action) and an ethical mode (non-action), which appears as God's agape love in God's trinity--God's self-giving love in creation, God's self-sacrificing love in redemption, God's other-embracing love in sustenance--which represents God's self-emptying process. This inclusive and unifying vision of wu-wei helps one to deal with the problem of evil more directly and wholistically. First, good and evil are not the absolute substance, but a relative relation. Second, overcoming evil is not accomplished by enhancing good or inviting the absolute God, but by seeking the balance between good and evil. Third, the human task of tackling the problem of evil cannot be delayed to the future or until after death, but can be realized at the present moment. Fourth, wu-wei, in both its ontological and ethical modes, provides the metaphysical structure to handle the problem of evil theoretically as well as ethically.
AIM: To assess the efficacy and safety of weekly docetaxel plus a fixed-dose rate(FDR) of gemcitabine in metastatic esophageal squamous cell carcinoma(SCC).METHODS: A multi-center, open-label, ...prospective phase Ⅱ study was designed.Thirty-three esophageal SCC patients with documented progression after fluoropyrimidine/platinum-based first-line chemotherapy were enrolled and treated with docetaxel 35 mg/m2 and gemcitabine 1000 mg/m2 iv at a FDR(10 mg/m2 per minute) on days 1 and 8.Treatment was repeatedevery twenty-one days until disease progression, unacceptable toxicity, or consent withdrawal.The primary endpoint was response rate(RR), and secondary endpoints were safety, progression-free survival(PFS) and overall survival(OS).RESULTS: Combination of weekly docetaxel and FDR gemcitabine was well tolerated: the most common treatment-related adverse events were anemia(97%), fatigue(64%) and neutropenia(55%).One patient with multiple lung and lymph node metastases died of respiratory failure after receiving four cycles of chemotherapy, and the possibility of drug-induced pneumonitis could not be completely excluded.Disease control(objective response plus stable disease) in the ITT population was achieved in 88% of patients, and the overall RR was 30%(95%CI: 15%-46%).The median PFS and OS were 4.0(95%CI: 3.4-4.6) and 8.8 mo(95%CI: 7.8-9.8 mo), respectively.CONCLUSION: A combination of weekly docetaxel and FDR gemcitabine showed promising antitumor activity and tolerability in previously treated, metastatic esophageal SCC.
This study used resting state functional magnetic resonance imaging (rsfMRI) to investigate whole brain networks in patients with persistent postural perceptual dizziness (PPPD). We compared rsfMRI ...data from 38 patients with PPPD and 38 healthy controls using whole brain and region of interest analyses. We examined correlations among connectivity and clinical variables and tested the ability of a machine learning algorithm to classify subjects using rsfMRI results. Patients with PPPD showed: (a) increased connectivity of subcallosal cortex with left superior lateral occipital cortex and left middle frontal gyrus, (b) decreased connectivity of left hippocampus with bilateral central opercular cortices, left posterior opercular cortex, right insular cortex and cerebellum, and (c) decreased connectivity between right nucleus accumbens and anterior left temporal fusiform cortex. After controlling for anxiety and depression as covariates, patients with PPPD still showed decreased connectivity between left hippocampus and right inferior frontal gyrus, bilateral temporal lobes, bilateral insular cortices, bilateral central opercular cortex, left parietal opercular cortex, bilateral occipital lobes and cerebellum (bilateral lobules VI and V, and left I–IV). Dizziness handicap, anxiety, and depression correlated with connectivity in clinically meaningful brain regions. The machine learning algorithm correctly classified patients and controls with a sensitivity of 78.4%, specificity of 76.9%, and area under the curve = 0.88 using 11 connectivity parameters. Patients with PPPD showed reduced connectivity among the areas involved in multisensory vestibular processing and spatial cognition, but increased connectivity in networks linking visual and emotional processing. Connectivity patterns may become an imaging biomarker of PPPD.
All cancers harbor molecular alterations in their genomes. The transcriptional consequences of these somatic mutations have not yet been comprehensively explored in lung cancer. Here we present the ...first large scale RNA sequencing study of lung adenocarcinoma, demonstrating its power to identify somatic point mutations as well as transcriptional variants such as gene fusions, alternative splicing events, and expression outliers. Our results reveal the genetic basis of 200 lung adenocarcinomas in Koreans including deep characterization of 87 surgical specimens by transcriptome sequencing. We identified driver somatic mutations in cancer genes including EGFR, KRAS, NRAS, BRAF, PIK3CA, MET, and CTNNB1. Candidates for novel driver mutations were also identified in genes newly implicated in lung adenocarcinoma such as LMTK2, ARID1A, NOTCH2, and SMARCA4. We found 45 fusion genes, eight of which were chimeric tyrosine kinases involving ALK, RET, ROS1, FGFR2, AXL, and PDGFRA. Among 17 recurrent alternative splicing events, we identified exon 14 skipping in the proto-oncogene MET as highly likely to be a cancer driver. The number of somatic mutations and expression outliers varied markedly between individual cancers and was strongly correlated with smoking history of patients. We identified genomic blocks within which gene expression levels were consistently increased or decreased that could be explained by copy number alterations in samples. We also found an association between lymph node metastasis and somatic mutations in TP53. These findings broaden our understanding of lung adenocarcinoma and may also lead to new diagnostic and therapeutic approaches.
Following the celebrated discovery of graphene, considerable attention has been directed toward the rich spectrum of properties offered by van der Waals crystals. However, studies have been largely ...limited to their 2D properties due to lack of 1D structures. Here, the growth of high‐yield, single‐crystalline 1D nanobelts composed of transition metal ditellurides at low temperatures (T ≤ 500 °C) and in short reaction times (t ≤ 10 min) via the use of tellurium‐rich eutectic metal alloys is reported. The synthesized semimetallic 1D products are highly pure, stoichiometric, structurally uniform, and free of defects, resulting in high electrical performances. Furthermore, complete compositional tuning of the ternary ditelluride nanobelts is achieved with suppressed phase separation, applicable to the creation of unprecedented low‐dimensional materials/devices. This approach may inspire new growth/fabrication strategies of 1D layered nanostructures, which may offer unique properties that are not available in other materials.
Single‐crystalline 1D nanobelts composed of (WxMo1−x)Te2 (0 ≤ x ≤ 1) can be prepared on any arbitrary substrates at low temperatures and in short reaction times via the use of Te‐rich eutectic metal alloys. The realization of high‐quality, stoichiometric 1D (WxMo1−x)Te2 crystals will not only diversify the renowned 2D materials family, but also provide many new opportunities in various fields.
Although the personal protective equipment (PPE) used by healthcare workers (HCWs) effectively blocks hazardous substances and pathogens, it does not fully rule out the possibility of infection, as ...pathogens surviving on the fabric surface pose a substantial risk of cross‐infection through unintended means. Therefore, PPE materials that exhibit effective biocidal activity while minimizing contamination by viscous body fluids (e.g., blood and saliva) and pathogen‐laden droplets are highly sought. In this study, petal‐like nanostructures (PNSs) are synthesized through the vertical rearrangement of colloidal lamellar bilayers via evaporation‐induced self‐assembly of octadecylamine, silica‐alumina sol, and diverse photosensitizer. The developed method is compatible with various fabrics and imparts visible‐light‐activated antimicrobial and superhydrophobic‐based antifouling activities. PNS‐coated fabrics could provide a high level of protection and effectively block pathogen transmission as exemplified by their ability to roll off viscous body fluids reducing bacterial droplet adhesion and to inactivate various microorganisms. The combination of antifouling and photobiocidal activities results in the complete inactivation of sprayed pathogen‐laden droplets within 30 min. Thus, this study paves the way for effective contagious disease management and the protection of HCWs in general medical environments, inspiring further research on the fabrication of materials that integrate multiple useful functionalities.
Novel coatings based on petal‐like nanostructures (PNSs) are prepared by simple dip coating using the evaporation‐induced self‐assembly of rose bengal, octadecylamine, and silica‐alumina sol. PNS‐functionalized fabrics demonstrate high protection and disinfection efficiency against hazardous materials such as bacterial droplets and body fluids based on multifunctional superhydrophobic nanostructure‐activated antifouling and visible‐light‐activated photobiocidal properties.
Brown adipose tissue (BAT) plays a pivotal role in maintaining body temperature and energy homeostasis. BAT dysfunction is associated with impaired metabolic health. Here, we show that Ssu72 ...phosphatase is essential for mRNA translation of genes required for thermogenesis in BAT. Ssu72 is found to be highly expressed in BAT among adipose tissue depots, and the expression level of Ssu72 is increased upon acute cold exposure. Mice lacking adipocyte Ssu72 exhibit cold intolerance during acute cold exposure. Mechanistically, Ssu72 deficiency alters cytosolic mRNA translation program through hyperphosphorylation of eIF2α and reduces translation of mitochondrial oxidative phosphorylation (OXPHOS) subunits, resulting in mitochondrial dysfunction and defective thermogenesis in BAT. In addition, metabolic dysfunction in Ssu72-deficient BAT returns to almost normal after restoring Ssu72 expression. In summary, our findings demonstrate that cold-responsive Ssu72 phosphatase is involved in cytosolic translation of key thermogenic effectors via dephosphorylation of eIF2α in brown adipocytes, providing insights into metabolic benefits of Ssu72.
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