• Journal of Genetic Medicine
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• v.16 no.1
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• pp.19-22
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• 2019

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

• Journal of Veterinary Clinics
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• v.31 no.5
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• pp.466-468
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• 2014

Polycystic kidney disease (PKD) is characterized by multiple cysts within the renal parenchyma and is a common heritable disease in humans, dogs, and cats. However, a few cases of PKD have been described in captive pygmy hippopotamuses. Bilateral PKD was observed in a 33-year-old, 198-kg female pygmy hippopotamus during its necropsy in Seoul Zoo on 15 January 2013. The diagnosis of PKD was confirmed by gross findings and histopathological examination. One kidney was slightly enlarged, and the lower portion of other kidney contained a large cyst filled with light yellow, watery fluid. Both kidneys had numerous, variably sized fluid-filled cysts of 2 to 20 mm in diameter. Considerable portions of the renal cortex and medulla were replaced by cysts. Microscopic inspection showed that the cysts were lined with low cuboidal to flat epithelial cells. The present case report of PKD in a pygmy hippopotamus is the first in Korea.

• Journal of Oriental Neuropsychiatry
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• v.19 no.2
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• pp.289-297
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• 2008

Paroxysmal Kinesigenic Dyskinesia ( PKD ) is an unusual dyskinesia often precipitated by voluntary movements and characterized by brief episodes of choreic/ dystonic movements. Little is known of the pathophysiology of PKD, although secondary etiologies such as multiple sclerosis, ischemic stroke, birth injury , head trauma, drug abuse, etc. are known to induce the disease. We report a case of a male patient suffering from both legs dystonia for 10 years. He had a past history of drug abuse, and was diagnosed as PKD by a neurologist. We treated him with acupucture and herbal medicine and was able to observe the improvement in certain symtoms and general condition.

• BMB Reports
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• v.44 no.10
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• pp.659-664
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• 2011

As part of the search for biologically active anti-osteoporotic agents that enhance differentiation and mineralization of osteoblastic MC3T3-E1 cells, we identified the ginsenoside Rh2(S), which is an active component in ginseng. Rh2(S) stimulates osteoblastic differentiation and mineralization, as manifested by the up-regulation of differentiation markers (alkaline phosphatase and osteogenic genes) and Alizarin Red staining, respectively. Rh2(S) activates p38 mitogen-activated protein kinase (MAPK) in time- and concentration-dependent manners, and Rh2(S)-induced differentiation and mineralization of osteoblastic cells were totally inhibited in the presence of the p38 MAPK inhibitor, SB203580. In addition, pretreatment with Go6976, a protein kinase D (PKD) inhibitor, significantly reversed the Rh2(S)-induced p38 MAPK activation, indicating that PKD might be an upstream kinase for p38 MAPK in MC3T3-E1 cells. Taken together, these results suggest that Rh2(S) induces the differentiation and mineralization of MC3T3-E1 cells through activation of PKD/p38 MAPK signaling pathways, and these findings provide a molecular basis for the osteogenic effect of Rh2(S).

• The Journal of Internal Korean Medicine
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• v.42 no.3
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• pp.225-238
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• 2021

Objective: This research reviews and investigates the trends in recent clinical studies of polycystic kidney disease (PKD) in China. Method: We searched for clinical studies discussing Oriental medicine-based treatments for PKD in the China National Knowledge Infrastructure (CNKI) database. Thirteen clinical articles published from 2001 to 2019 were analyzed. The search focused on the authors, publication year, type of study, purposes of study, method and duration of treatment, evaluation criteria, and results of the selected articles. Results: Of the articles from the database, 9 case series and 4 randomized controlled trials (RCTs) were analyzed. Ten articles used herbal medicine; 4 used herbal medicine for external use. Gamigyejibokryeong-hwan was the most common herbal prescription. The most frequently used herb was Polia Sclerotium (茯苓), and Cnidii Rhizoma (川芎) was employed in all the external uses. All 13 studies confirmed the efficacy of Oriental medicine treatments. Conclusion: 1. Scientifically designed and more varied clinical studies are required to develop treatments for PKD. 2. The current study could be used as basic data in future clinical studies on treatment and further studies of PKD.

• Journal of Microbiology and Biotechnology
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• v.33 no.2
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• pp.203-210
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• 2023

Taste is classified into five types, each of which has evolved to play its respective role in mammalian survival. Sour taste is one of the important ways to judge whether food has gone bad, and the sour taste receptor (PKD2L1) is the gene behind it. Here, we investigated whether ʟ-pyroglutamic acid interacts with sour taste receptors through electrophysiology and mutation experiments using Xenopus oocytes. R299 of hPKD2L1 was revealed to be involved in ʟ-pyroglutamic acid binding in a concentration-dependent manner. As a result, it is possible to objectify the change in signal intensity according to the concentration of ʟ-pyroglutamic acid, an active ingredient involved in the taste of kimchi, at the molecular level. Since the taste of other ingredients can also be measured with the method used in this experiment, it is expected that an objective database of taste can be created.

• Clinical and Experimental Pediatrics
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• v.50 no.7
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• pp.694-697
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• 2007

Paroxysmal kinesigenic dyskinesia (PKD), previously referred to as movement-provoked seizures, is a rare neurological condition that is characterized by short duration dystonic or choreoathetotic movements precipitated by sudden movement, a change in position or hyperventilation. It can be difficult to distinguish this syndrome from seizures. We reported on three brothers in one family all of whom developed abnormal involuntary dystonic or choreoathetotic movement with a tingling or stiffness sensory aura. Evaluations of the patients included general physical examinations, endoclinologic, metabolic studies, chromosomal analysis, video electroencephalograms and brain MRI imaging. All of these studies were normal except for an arachnoid cyst found in one patient. All symptoms showed excellent response to oxcarbamazepine ($Trileptal^{(R)}$) or carbamazepine. Use of the video electroencephalogram can help differentiate familial PKD from seizures.

• Journal of Genetic Medicine
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• v.17 no.1
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• pp.51-54
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• 2020

Since the American College of Medical Genetics and Genomics and Association of Molecular Pathology published their guidelines in 2015, most interpretations of genetic tests have followed them. However, all variants have only limited evidence along 28 interpretation standards, especially de novo variants. When de novo variants, which are classified as variants of uncertain significance (VUS) due to lack of evidence, are detected, segregation in the affected family could provide an important key to clarifying the variants. Autosomal dominant polycystic kidney disease is the most common inherited kidney disorder with pathogenic variants in the PKD1 or PKD2 genes. We detected a novel in-frame deletion variant in the PKD1 gene, c.7575_7577del (p.(Cys2526del)), which was interpreted as a VUS. We analyzed this variant in a Korean family to decide for segregation. Here, we report the variant as a likely pathogenic variant based on the evidence of segregation in three affected relatives and two unaffected members.

• The Journal of Asian Finance, Economics and Business
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• v.9 no.8
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• pp.123-134
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• 2022

In 2021 One Tambon One Product (OTOP) food products reached $3,447 billion domestically and $200 million internationally. Mirroring Japan's highly successful OVOP (One Village One Product) poverty reduction and rural employment program, Thailand's OTOP program has since become a global model of success as well. From May through June 2022, OTOP snack food vendor entrepreneurs were contacted and asked to contribute their opinions about what factors affected their enterprise's food product quality. Using systematic random sampling across six Thai regions, 311 export entrepreneurs, production managers, and marketing managers participated. The results revealed that product innovation (PDTI), process innovation (PCSI), packaging design (PKD), and the 4P marketing mix (4PMM) all positively influenced OTOP snack food product quality (PDQ), which, when combined, had a total effect R² value of 27%. Also, the latent variable TE values for PDTI, PKD, 4PMM, and PCSI, were 0.38, 0.29, 0.22 and 0.11, respectively. Seven of the nine hypotheses examined were supported, with packaging design (PKD) determined to have the greatest influence on the 4P marketing mix (4PMM).

• Tissue Engineering and Regenerative Medicine
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• v.15 no.6
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• pp.793-801
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• 2018

BACKGROUND: The aim of this study was to evaluate the combined effect of low-level laser treatment (LLLT) and recombinant human bone morphological protein-2 (rhBMP-2) applied to hypoxic-cultured MC3T3-E1 osteoblastic cells and to determine possible signaling pathways underlying differentiation and mineralization of osteoblasts under hypoxia. METHODS: MC3T3-E1 cells were cultured under 1% oxygen tension for 72 h. Cell cultures were divided into four groups: normoxia control, low-level laser (LLL) alone, rhBMP-2 combined with LLLT, and rhBMP-2 under hypoxia. Laser irradiation was applied at 0, 24, and 48 h. Cells were treated with rhBMP-2 at 50 ng/mL. Alkaline phosphatase activity was measured at 3, 7, and 14 days to evaluate osteoblastic differentiation. Cell mineralization was determined with Alizarin red S staining at 7 and 14 days. Western blot assays were performed to evaluate whether p38/protein kinase D (PKD) signaling was involved. RESULTS: The results indicate that LLLT and rhBMP-2 synergistically increased alkaline phosphatase (ALP) activity and mineralization. Western blot analyses showed that expression of type I collagen, runt-related transcription factor 2 (RUNX2), and Osterix (Osx), increased and expression of hypoxia-inducible factor 1-alpha ($HIF-1{\alpha}$), decreased more in the LLLT and rhBMP-2 combined group than in the rhBMP-2 or LLL alone groups. Moreover, LLLT and rhBMP-2 stimulated p38 phosphorylation and rhBMP-2 and LLLT increased Prkd1 phosphorylation. CONCLUSION: Combined treatment with rhBMP-2 and LLL induced differentiation and mineralization of hypoxic-cultured MC3T3-E1 osteoblasts by activating p38/PKD signaling in vitro.