• Childhood Kidney Diseases
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• 제22권2호
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• pp.64-66
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• 2018

Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease and causes terminal chronic renal failure. ADPKD is characterized by bilateral multiple renal cysts, which are produced by mutations of the PKD1 and PKD2 genes. PKD1 is located on chromosome 16 and encodes a protein that is involved in cell cycle regulation and intracellular calcium transport in epithelial cells and is responsible for 85% of ADPKD cases. Although nine cases of unilateral ADPKD with contralateral kidney agenesis have been reported, there have been no reports of early childhood ADPKD. Here, we report the only case of unilateral ADPKD with contralateral kidney dysplasia in the world in a four year-old girl who was intrauterinely diagnosed since she was 20 weeks old and followed for four years until present.

• 동의신경정신과학회지
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• 제19권2호
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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.

• Journal of Genetic Medicine
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• 제16권1호
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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.

• 한국임상수의학회지
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• 제31권5호
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• pp.466-468
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• 2014

다낭신장병은 신장실질에 다수의 낭포가 형성되는 것을 특징으로 하는 사람, 개, 고양이에서 흔히 있는 유전성 질환으로서, 사육상태의 꼬마하마(pygmy hippopotamus)에서도 몇 몇 증례가 보고되고 있다. 2013년 1월 15일 체중 198킬로그램, 33년령 암컷 꼬마하마의 부검과정 중에 양쪽 신장에서 다낭신장병이 관찰되었다. 한 쪽 신장은 약간 종대된 반면 다른 쪽 신장의 아랫부분은 옅은 황색의 수양성 액체로 채워진 한 개의 큰 낭포가 있었다. 양측 신장 모두 직경 2 mm에서 20 mm의 다양한 크기의 액체가 함유된 다수의 낭포들이 관찰되었다. 상당한 부분의 신장 피질과 수질부가 낭포들로 대체되어 있었다. 현미경 검사에서 낭포들의 안쪽은 낮은 입방세포에서부터 편평상피세포들로 구성되어 있었다. 육안적인 소견과 조직병리학적인 검사로 다낭신장병으로 진단하였다. 본 증례보고는 한국에서 최초로 꼬마하마에서 다낭신장병이 확인된 것이다.

• 대한한방내과학회지
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• 제42권3호
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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.

• 한국임상수의학회지
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• 제27권6호
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• pp.726-728
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• 2010

상염색체 우성 다낭성 신병은 페르시안과 페르시안에서 유래된 품종에서 다발하는 질환으로, 스코티쉬 폴드 고양이에서도 간혹 보고된 바가 있다. 5살령의 수컷 스코티쉬 폴드 고양이가 기본적인 혈액 검사와 복부 초음파 등을 통해 다낭성 신병으로 진단 받은 후 3.5 개월 만에 폐사하였다. 이 고양이는 동배 암컷 고양이를 비롯한 3 마리의 암컷 고양이와 교배하여 14마리의 새끼고양이가 있었으며 연령대는 3개월령에서 8년령으로 다양하였다. 상염색체 우성 다낭성 신병인지를 확인하기 위해 변이된 PKD1 유전자에 대한 유전자 검사가 이루어졌다. 또한 복부 초음파를 통해 신장의 낭성 구조물을 확인하는 검사도 이루어졌다. 총 19마리 (수컷: 13마리, 암컷: 6 마리) 에 대한 검사가 이루어 졌으며 연령대는 3개월에서 8년령 사이였다. 검사 결과, 19마리 모두에서 유전자 검사와 초음파 검사 결과가 일치하였고, 이 중 8마리가 상염색체 우성 다낭성 신병으로 진단되었다. 아직까지 한국에서는 고양이의 상염색체 우성 다낭성 신병은 보고 된바 없으며, 본 조사는 가족 단위의 스코티쉬 폴드 고양이에 발생한 상염색체 우성 다낭성 신병에 대한 첫 보고이다.

• BMB Reports
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• 제44권10호
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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).

• Clinical and Experimental Pediatrics
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• 제50권7호
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• pp.694-697
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• 2007

발작성 운동이상증(Paroxysmal kinesigenic dyskinesia, PKD)은 경련성 발작과 구분해야 하는 드문 신경질환으로써 1940년에 Mount와 Reback에 의해 발작성 무도무위증(paroxysmal dystonic choreoathetosis)란 용어로 처음 보고되었으며 1967년 Kertesz에 의해 처음으로 발작성 운동이상증(Dyskinesia)으로 명명 되어졌다. PKD는 아동기에서 성인기 초에 호발하며 가족성 우성 유전으로도 나타날 수 있고 chromosome 16p11.2-q12.1, 16q13-q22.1, 2q32-36과 관계 있다는 보고가 있다. 증상은 대부분 수 초 이내 멈추나 드물게 5분 이상 지속되는 경우도 있다. 증상 발현 전에 감각 이상 등의 전구 증상이 동반되는 경우가 있으며 의식소실은 동반되지 않는다. 치료는 carbamazepne, phenytoin, valproic acid, clonazepam 등의 항경련제를 투여하는데 일부에서는 oxycarbazepine이나 levodopa를 투여하기도 한다. 저자들은 한 가족의 세명의 형제에서 나타난 발작성 이상운동증을 경험하고 항경련제(Oxcarbamazepine or Carbamazepine)를 통한 좋은 치료성적을 거두었기에 보고하는 바이다.

• Journal of Genetic Medicine
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• 제17권1호
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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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• 제9권8호
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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).