• Clinical and Experimental Pediatrics
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• v.64 no.10
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• pp.504-510
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• 2021

Population screening of newborns is an extremely important and informative diagnostic approach that allows early identification of babies who are predisposed to the development of a number of serious diseases. Some of these diseases are known and have effective treatment methods. Neonatal screening enables the early diagnosis and subsequent timely initiation of therapy. This helps to prevent serious complications and reduce the percentage of disability and deaths among newborns and young children. Primary immunodeficiency diseases and primary immunodeficiency syndrome (PIDS) are a heterogeneous group of diseases and conditions based on impaired immune system function associated with developmental defects and characterized by various combinations of recurrent infections, development of autoimmune and lymphoproliferative syndromes (genetic defects in apoptosis, gene mutation Fas receptor or ligand), granulomatous process, and malignant neoplasms. Most of these diseases manifest in infancy and lead to serious illness, disability, and high mortality rates. Until recently, it was impossible to identify children with PIDS before the onset of the first clinical symptoms, which are usually accompanied by complications in the form of severe coinfections of a viral-bacterial-fungal etiology. Modern advances in medical laboratory technology have allowed the identification of children with severe PIDS, manifested by T- and/or B-cell lymphopenia and other disorders of the immune system. This review discusses the main existing strategies and directions used in PIDS screening programs for newborns, including approaches to screening based on excision of T-cell receptors and kappa-recombination excision circles, as well as the potential role and place of next-generation sequencing technology to increase the diagnostic accuracy of these diseases.

• Asian-Australasian Journal of Animal Sciences
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• v.33 no.5
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• pp.704-711
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• 2020

Objective: Muscle fiber types, numbers and area are crucial aspects associated with meat production and quality. However, there are few studies of pig muscle fibre traits in terms of the detection power, false discovery rate and confidence interval precision of whole-genome quantitative trait loci (QTL). We had previously performed genome scanning for muscle fibre traits using 183 microsatellites and detected 8 significant QTLs in a White Duroc×Erhualian F₂ population. The confidence intervals of these QTLs ranged between 11 and 127 centimorgan (cM), which contained hundreds of genes and hampered the identification of QTLs. A whole-genome sequence imputation of the population was used for fine mapping in this study. Methods: A whole-genome sequences association study was performed in the F₂ population. Genotyping was performed for 1,020 individuals (19 F₀, 68 F₁, and 933 F₂). The whole-genome variants were imputed and 21,624,800 single nucleotide polymorphisms (SNPs) were identified and examined for associations to 11 longissimus dorsi muscle fiber traits. Results: A total of 3,201 significant SNPs comprising 7 novel QTLs showing associations with the relative area of fiber type I (I_RA), the fiber number per square centimeter (FN) and the total fiber number (TFN). Moreover, one QTL on pig chromosome 14 was found to affect both FN and TFN. Furthermore, four plausible candidate genes associated with FN (kinase non-catalytic C-lobe domain containing [KNDC1]), TFN (KNDC1), and I_RA (solute carrier family 36 member 4, contactin associated protein like 5, and glutamate metabotropic receptor 8) were identified. Conclusion: An efficient and powerful imputation-based association approach was utilized to identify genes potentially associated with muscle fiber traits. These identified genes and SNPs could be explored to improve meat production and quality via marker-assisted selection in pigs.

• Archives of Pharmacal Research
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• v.29 no.3
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• pp.224-234
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• 2006

We employed human SK-MEL-28 cells as a model system to identify cellular proteins that accompany N-(4-methyl)phenyl-O-(4-methoxy)phenyl-thionocarbamate (MMTC)-induced apoptosis based on a proteomic approach. Cell viability tests revealed that SK-MEL-28 skin cancer cells underwent more cell death than normal HaCaT cells in a dose-dependent manner after treatment with MMTC. Two-dimensional electrophoresis in conjunction with matrixassisted laser desorption/ionization-time of flight (MALDI-TOF) mass spectrometry analysis or computer matching with a protein database further revealed that the MMTC-induced apoptosis is accompanied by increased levels of caspase-1, checkpoint suppressor-1, caspase-4, NF-kB inhibitor, AP-2, c-Jun-N-terminal kinase, melanoma inhibitor, granzyme K, G1/S specific cyclin D3, cystein rich protein, Ras-related protein Rab-37 or Ras-related protein Rab-13, and reduced levels of EMS (oncogene), ATP synthase, tyrosine-phosphatase, Cdc25c, 14-3-3 protein or specific structure of nuclear receptor. The migration suppressing effect of MMTC on SK-MEL-28 cell was tested. MMTC suppressed the metastasis of SK-MEL-8 cells. It was also identified that MMTC had little angiogenic effect because it did not suppress the proliferation of HUVEC cell line. These results suggest that MMTC is a novel chemotherapeutic and metastatic agents against the SK-MEL-28 human melanoma cell line.

• Korean Chemical Engineering Research
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• v.57 no.1
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• pp.90-104
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• 2019

In this study, CALPUFF modeling was performed, using a real surface and upper air meterological data to predict trustworthy modeling-results. Pollutant-releases from windscreen chambers of enclosed poultry farms, P1 and P2, and from a open poultry farm, P3, and their diffusing behavior were modeled by CALPUFF modeling with volume sources as well as by finally-adjusted CALPUFF modeling where a linear velocity of upward-exit gas averaged with the weight of each directional-emitting area was applied as a model-linear velocity ($u^M_y$) at a stack, with point sources. In addition, based upon the scenario of poultry farm-releasing odor and particulate matter (PM) removal efficiencies of 0, 20, 50 and 80% or their corresponding emission rates of 100, 80, 50 and 20%, respectively, CALPUFF modeling was performed and concentrations of odor and PM were predicted at the region as a discrete receptor where civil complaints had been frequently filed. The predicted concentrations of ammonia, hydrogen sulfide, $PM_{2.5}$ and $PM_{10}$ were compared with those required to meet according to the offensive odor control law or the atmospheric environmental law. Subsequently their required removal efficiencies at poultry farms of P1, P2 and P3 were estimated. As a result, a priori assumption that pollutant concentrations at their discrete receptors are reduced by the same fraction as pollutant concentrations at P1, P2 and P3 as volume source or point source, were controlled and reduced, was proven applicable in this study. In case of volume source-adopted CALPUFF modeling, its required removal efficiencies of P1 compared with those of point source-adopted CALPUFF modeling, were predicted similar each other. However, In case of volume source-adopted CALPUFF modeling, its required removal efficiencies of both ammonia and $PM_{10}$ at not only P2 but also P3 were predicted higher than those of point source-adopted CALPUFF modeling. Nonetheless, the volume source-adopted CALPUFF modeling was preferred as a safe approach to resolve civil complaints. Accordingly, the required degrees of pollution prevention against ammonia, hydrogen sulfide, $PM_{2.5}$ and $PM_{10}$ at P1 and P2, were estimated in a proper manner.

• Journal of Korean Neurosurgical Society
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• v.30 no.3
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• pp.263-271
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• 2001

Objective : Glioblastomas, the most common type of primary brain tumors, are highly invasive and cause massive tissue destruction at both the tumor invading edges and in areas that are not in direct contact with glioma cells. As a result, patients with high-grade gliomas are faced with a poor prognosis. Such grim statistics emphasize the need to better understand the mechanisms that underlie glioma invasion, as these may lead to the identification of novel targets in the therapy of high grade gliomas. Protein kinase C(PKC) is a family of serine/threonine kinases and an important signal transduction enzyme that conveys signals generated by ligand-receptor interaction at the cell surface to the nucleus. PKC appears to be critical in regulating many aspects of glioma biology. The purpose of this study was to assess accurately the role of PKC in the invasion regulation of human gliomas based on hypothesis that protein kinase C(PKC) is functional in the process of glial tumor cell invasion. Method : To test this hypothesis, U-87 malignant glioma cell line intracellular PKC levels were up and down regulated and their invasiveness was tested. Intracellular PKC level was characterized using PKC activity assays. Invasion assays including barrier migration and spheroid confrontation were used to study the relationship between PKC concentration and invasiveness. Result : The cell line which were treated by PKC inhibitor tamoxifen and hypericin exhibited decreased PKC activity and decreased invasive abilities dose dependently both in matrigel invasion assay and tumor spheroid fetal rat brain aggregates(FRBA) confrontation assay. However, the cell line that was treated by PKC activator 12-O-tetradecanylphorbol-13acetate(TPA) did not exhibit increases in either PKC activity or invasive ability. Conclusion : These studies suggest that PKC may be a useful molecular target for the chemotherapy of glioblastoma and other malignancies and that a therapeutic approach based on the ability of PKC inhibitors may be helpful in preventing invasion.

• The Korean Journal of Physiology
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• v.8 no.2
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• pp.1-17
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• 1974

This experiment was designed to explore the specific functional interrelations between the vestibular semicircular canals and the extraocular muscles which may disclose the neural organization, connecting the vestibular canals and each ocular motor nuclei in the brain system, for vestibuloocular reflex mechanism. In urethane anesthetized rabbits, a fine wire insulated except the cut cross section of its tip was inserted into the canals closely to the ampullary receptor organs through the minute holes provided on the osseous canal wall for monopolar stimulation of each canal nerve. All extraocular muscles of both eyes were ligated and cut at their insertio, and the isometric tension and EMG responses of the extraocular muscles to the vestibular canal nerve stimulation were recorded by means of a physiographic recorder. Upon stimulation of the semicircular canal nerve, direction if the eye movement was also observed. The experimental results were as follows. 1) Single canal nerve stimulation with high frequency square waves (240 cps, 0. 1 msec) caused excitation of three extraocular muscles and inhibition of remaining three muscles in the bilateral eyes; stimulation of any canal nerve of a unilateral labyrinth caused excitation (contraction) of the superior rectus, superior oblique and medial rectus muscles and inhibition (relaxation) of the inferior rectus, inferior oblique and lateral rectos muscles in the ipsilateral eye, and it caused the opposite events in the contralateral eye. 2) By the overlapped stimulation of triple canal nerves of a unilateral labyrinth, unidirectional (excitatory or inhibitory) summation of the individual canal effects on a given extraocular muscles was demonstrated, and this indicates that three different canals of a unilateral vestibular system exert similar effect on a given extraocular muscles. 3) Based on the above experimental evidences, a simple rule by which one can define the vestibular excitatory and inhibitory input sources to all the extraocular muscles is proposed; the superior rectus, superior oblique and medial rectus muscles receive excitatory impulses from the ipsilateral vestibular canals, and the inferior rectus, inferior oblique and lateral rectus muscles from the contralateral canals; the opposite relationship applies for vestibular inhibitory impulses to the extraocular muscles. 4) According to the specific direction of the eye movements induced by the individual canal nerve stimulation, an extraocutar muscle exerting major role (a muscle of primary contraction) and two muscles of synergistic contraction could be differentiated in both eyes. 5) When these experimental results were compared to the well known observations of Cohen et al. (1964) made in the cats, extraocular muscles of primary contraction were the same but those of synergistic contraction were partially different. Moreover, the oblique muscle responses to each canal nerve excitation appeared to be all identical. However, the responnes of horizontal (medial and lateral) and vertical (superior and inferior) rectus muscles showed considerable differences. By critical analysis of these data, the author was able to locate theoretical contradictions in the observations of Cohen et al. but not in the author's results. 6) An attempt was also made to compare the functional observation of this experiment to the morphological findings of Carpenter and his associates obtained by degeneration experiments in the monkeys, and it was able to find some significant coincidence between there two works of different approach. In summary, the author has demonstrated that the well known observations of Cohen et al. on the vestibulo-ocular interrelation contain important experimental errors which can he proved by theoretical evaluation and substantiated by a series of experiments. Based on such experimental evidences, a new rule is proposed to define the interrelation between the vestibular canals and the extraocular muscles.