• Journal of Genetic Medicine
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• 제17권2호
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• pp.73-78
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• 2020

Purpose: Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of disorders characterized by impaired neuromuscular transmission. This study aims to provide the clue for early diagnosis and improved therapeutic strategies in CMS. Materials and Methods: Through the targeted panel sequencing including twenty CMS causative genes, eleven patients were genetically confirmed and enrolled in this study. A retrospective medical record review was carried out for the clinical and laboratory data analysis. Results: The age of patients ranged from 5 to 23 years, with the median age of 16 years. The peak age at onset of symptoms was the neonatal period. Seven out of the eleven patients were symptomatic at birth. The most commonly reported initial finding was generalized hypotonia with poor sucking and crying. Mean time to accurate diagnosis was 9.3±5.0 years. Total fifteen different variants in seven genes associated with CMS (DOK7, AGRN, RAPSN, CHRNE, COLQ, SLC5A7, and GFPT1) were identified. Conclusion: We describe the clinical and genetic characteristics of CMS patients and treatment outcome in a single tertiary center. High clinical suspicion and timely molecular diagnosis is particularly important for the tailored therapy to maximize clinical improvement in CMS.

• 대한유전성대사질환학회지
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• 제20권1호
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• pp.24-28
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• 2020

당원병 III형은 GDE 결핍으로 분해되지 않은 당원이 간 또는 근육에 축적되는 유전대사이상질환이다. AGL 유전자 변이에 의해 발생하고 높은 유전적 이질성을 가지고 있다. 당원병 III형의 임상증상은 간 비대, 성장 지연, 저혈당 등이 있다. 이러한 임상 증상은 다른 타입의 당원병의 증상과 비슷하여 임상적으로는 구분하기가 어렵다. 저자들은 간 비대 주소로 내원한 11개월 환아에서 유전자 패널 검사로 진단된 당원병 III형 증례를 보고하고자 한다. 간 조직검사결과 간세포에 글리코겐이 축적되어 있어 당원병을 의심하였으며, 당원병 아형의 감별 진단을 위해 유전자 패널 검사를 시행하였다. 그 결과, AGL 유전자에서 이전에 보고된 바 없는 c.311_312del와 c.3314+1G>A 변이가 이형접합체로 발견되어 당원병 III형으로 진단하였다. 진단 후 생옥수수 전분가루를 복용하는 식이요법 시작하였고, 생후 35개월인 현재까지 급·만성 합병증 없는 상태이다. 또한, 가족 검사를 통해 부모가 각각 보인자임을 확인하였고, 임신된 동생의 융모막 검사에서도 동일한 변이가 확인되어 출산 후 재검 및 조기 식이요법을 시행할 예정이다. 유전자 패널 검사법은 당원병과 같이 임상적으로 구분이 어려우며 높은 유전적 이질성을 가진 질환의 감별 진단 시 시간과 비용을 아낄 수 있어 유용하다. 또한 정확한 분자 유전학적 진단은 환아와 가족에게 질환에 대한 정확한 정보 및 치료 예방, 산전 유전상담을 제공하는 데 도움이 된다.

• Journal of Animal Science and Technology
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• 제46권1호
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• pp.15-22
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• 2004

제주마의 세 구룹의 집단(group I , 제주도축산진홍원 관리마; group Il , 농가사육마; group III, 제주경마장의 경주마)과 외래품종인 Thoroughbred, Mongolian horse 및 Quarter horse에 있어서 transfemin 유전자 분포를 비교하기 위하여 Transferrin 유전자 exon 13, 15 및 16에 대하여 SSCP 분석을 수행하였다. 조사된 유전자의 빈도는 집단간의 유전적 분화거리를 측정하는데 이용되었고 집단분화의 유의성을 검정하였다. 집단분화를 나타내는 Fst 값에 의하면 제주마 group I 은 group Il (0.067) 및 group III(0.070)와는 가깝게 위치하고 있었으나 Mongol 집단과는 0.091 로， Thoroughbred 집단과는 0.189의 유전적으로 거리가 다소 먼 분화된 집단관계를 보여주고 있었다. 또한 제주마 group I 은 외래품종인 Thoroughbred, Mongolian horse, American Quarter 집단뿐만 아니라 제주마 group Il 및 m와도 차별화 되는 집단으로 유지되고 있음을 보여주고 있었다'(p <0.05). 제주 경마장에 경주마로 이용되고 있는 제주마 group ill는 제주마 group I 및 Thoroughbred 품종집단에 대해서 칩단분화에 유의성이 안정 ( p < 0.01)되 었고 나머지 다른 집단과는 집단분화의 유의성이 없었다(p > 0.05). 제주마 group Il, group Ill 및 몽고마 사이에는 분화 확률의 유의성이 없어서 이들 집단간에는 유전자 빈도가 매우 유사한 것으로 생각되었다. 이로서 비교적 짧은 기간에 번식환경의 격려 또는 외래품종의 유전자 유업에 의하여 제주마의 transferrin 유전자 빈도는 제주마 집단간에 이질화를 초래하고 있으며， 집단의 분화가 유전자의 유엽이 원인이라면 혈통보존되는 축산 진홍원의 관리집단 이외의 제주마 집단은 외래 품종의 유전자 유업으로 제주마의 고유한 유전적 특성이 빠른 속도로 희석될 것으로 생각된다.

• Asian Pacific Journal of Cancer Prevention
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• 제15권12호
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• pp.4977-4982
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• 2014

Background: Cytochrome P450 2E1 (CYP2E1) might be involved in the development of bladder cancer. However, previous studies of any association between CYP2E1 RsaI/PstI polymorphism and bladder cancer risk have yielded conflicting results. In this study, we performed a more precise estimation of the relationship by a meta-analysis based on the currently available evidence from the literature. Method: To assess the effect of CYP2E1 RsaI/PstI polymorphism on bladder cancer susceptibility, a meta-analysis of 6 available studies with 1,510 cases and 1,560 controls were performed through Feb 2014. Summary odds ratios (ORs) and corresponding 95% confidence intervals (CIs) were used to estimate the strength of association for CYP2E1 RsaI/PstI polymorphism under different genetic models. Results: When available studies were pooled into the meta-analysis, we found that the C1C2 and C2C2 genotypes of CYP2E1 RsaI/PstI polymorphism significantly decreased bladder cancer risk under different genetic models (heterozygote: OR=0.766, 95%CI=0.613-0.957, $P_{OR}$=0.019; homozygote: OR=0.51, 95%CI=0.303-0.858, $P_{OR}$=0.011; dominant: OR=0.733, 95%CI=0.593-0.905, $P_{OR}$=0.004; recessive: OR=0.565, 95%CI=0.337-0.947, $P_{OR}$=0.030). Subgroup analysis indicated that C2C2 genotype was significantly associated with decreased bladder cancer risk under the homozygote genetic model in Caucasians. There was no evidence of heterogeneity or publication bias. Conclusions: The current meta-analysis suggested that the CYP2E1 RsaI/PstI polymorphism might be associated with bladder cancer susceptibility, especially in Caucasians. Further studies are needed to validate the above conclusion.

• Asian Pacific Journal of Cancer Prevention
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• 제14권12호
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• pp.7243-7249
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• 2013

Numerous studies have been conducted regarding association between TNF-${\alpha}$ and oral cancer risk, but the results remain controversial. The present meta-analysis is performed to acquire a more precise estimation of relationships. Databases of Pubmed, the Cochrane library and the China National Knowledge Internet (CNKI) were retrieved until August 10, 2013. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated with fixed- or random-effect models. The heterogeneity assumption was assessed by I-squared test. Among the eight included case-control studies, all were focused on TNF-${\alpha}$-308G>A and four also concerned the TNF-${\alpha}$-238G>A polymorphism. It was found that oral cancer risk were significant decreased with the TNF-${\alpha}$-308G>A polymorphism in the additive genetic model (GG vs. AA, OR=0.19, 95% CI: [0.04, 1.00], P=0.05, I2=68.9%) and the dominant genetic model (GG+GA vs. AA, OR=0.22, 95% CI: [0.06, 0.82], P=0.03, I2=52.4%); however, no significant association was observed in allele contrast (G vs. A, OR=0.70, 95% CI: [0.23, 2.16], P=0.54, I2=95.9%) and recessive genetic models (GG vs. GA+AA, OR=0.72, 95% CI: [0.33, 1.57], P=0.41, I2=93.1%). For the TNF-${\alpha}$-238G>A polymorphism, significant associations with oral cancer risk were found in the allele contrast (G vs. A, OR=2.75, 95% CI: [1.25, 6.04], P=0.01, I2=0.0%) and recessive genetic models (GG vs. GA+AA, OR=2.23, 95%CI: [1.18, 4.23], P=0.01, I2=0.0%). Conclusively, this meta-analysis indicates that TNF-${\alpha}$ polymorphisms may contribute to the risk of oral cancer. Allele G and the GG+GA genotype of TNF-${\alpha}$-308G>A may decrease the risk of oral cancer, while allele G and the GG genotype of TNF-${\alpha}$-238G>A may cause an increase.

• Genomics & Informatics
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• 제10권2호
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• pp.69-73
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• 2012

The explosive development of genomics technologies including microarrays and next generation sequencing (NGS) has provided comprehensive maps of cancer genomes, including the expression of mRNAs and microRNAs, DNA copy numbers, sequence variations, and epigenetic changes. These genome-wide profiles of the genetic aberrations could reveal the candidates for diagnostic and/or prognostic biomarkers as well as mechanistic insights into tumor development and progression. Recent efforts to establish the huge cancer genome compendium and integrative omics analyses, so-called "integromics", have extended our understanding on the cancer genome, showing its daunting complexity and heterogeneity. However, the challenges of the structured integration, sharing, and interpretation of the big omics data still remain to be resolved. Here, we review several issues raised in cancer omics data analysis, including NGS, focusing particularly on the study design and analysis strategies. This might be helpful to understand the current trends and strategies of the rapidly evolving cancer genomics research.

• 대한간호학회지
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• 제43권5호
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• pp.579-586
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• 2013

Purpose: This article provides an update and overview of a nursing research program focused on understanding the pathophysiology and management of irritable bowel syndrome (IBS). Methods: This review includes English language papers from the United States, Europe, and Asia (e.g., South Korea) from 1999 to 2013. We addressed IBS as a health problem, emerging etiologies, diagnostic and treatment approaches and the importance of a biopsychosocial model. Results: IBS is a chronic, functional gastrointestinal disorder characterized by recurrent episodes of abdominal pain and alterations in bowel habit (diarrhea, constipation, mixed). It is a condition for which adults, particularly women ages 20-45, seek health care services in both the United States and South Korea. Clinically, nurses play key roles in symptom prevention and management including designing and implementing approaches to enhance the patients' self-management strategies. Multiple mechanisms are believed to participate in the development and maintenance of IBS symptoms including autonomic nervous system dysregulation, intestinal inflammation, intestinal dysbiosis, dietary intolerances, alterations in emotion regulation, heightened visceral pain sensitivity, hypothalamic-pituitary-adrenal dysregulation, and dysmotility. Because IBS tends to occur in families, genetic factors may also contribute to the pathophysiology. Patients with IBS often report a number of co-morbid disorders and/or symptoms including poor sleep. Conclusion: The key to planning effective management strategies is to understand the heterogeneity of this disorder. Interventions for IBS include non-pharmacological strategies such as cognitive behavior therapy, relaxation strategies, and exclusion diets.

• Journal of Korean Neurosurgical Society
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• 제61권3호
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• pp.292-301
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• 2018

Medulloblastoma is the most common malignant brain tumor of childhood and remains a major cause of cancer related mortality in children. Significant scientific advancements have transformed the understanding of medulloblastoma, leading to the recognition of four distinct clinical and molecular subgroups, namely wingless (WNT), sonic hedgehog, group 3, and group 4. Subgroup classification combined with the recognition of subgroup specific molecular alterations has also led to major changes in risk stratification of medulloblastoma patients and these changes have begun to alter clinical trial design, in which the newly recognized subgroups are being incorporated as individualized treatment arms. Despite these recent advancements, identification of effective targeted therapies remains a challenge for several reasons. First, significant molecular heterogeneity exists within the four subgroups, meaning this classification system alone may not be sufficient to predict response to a particular therapy. Second, the majority of novel agents are currently tested at the time of recurrence, after which significant selective pressures have been exerted by radiation and chemotherapy. Recent studies demonstrate selection of tumor sub-clones that exhibit genetic divergence from the primary tumor, exist within metastatic and recurrent tumor populations. Therefore, tumor resampling at the time of recurrence may become necessary to accurately select patients for personalized therapy.

• Asian Pacific Journal of Cancer Prevention
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• 제14권3호
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• pp.1697-1701
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• 2013

Background: Studies of associations between genetic polymorphism of glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1) with risk of nasopharyngeal cancer (NPC) have generated conflicting results. Thus, a meta-analysis was performed to clarify the effects of GSTM1 and GSTT1 polymorphisms on the risk of developing NPC. Materials and Methods: A literature search in two electronic databases namely PubMed and EMBASE up to December 2012 was conducted and eligible papers were finally selected based on the inclusion and exclusion criteria. The pooled odds ratio (OR) and presence of heterogeneity and publication bias in those studies were evaluated. Results: A total of 9 studies concerning nasopharyngeal cancer were evaluated. Analyses of all relevant studies showed increased NPC risk to be significantly associated with the null genotypes of GSTMI (OR=1.43, 95%CI 1.24-1.66) and GSTT1 (OR=1.28, 95%CI=1.09-1.51). In addition, evidence of publication bias was detected among the studies on GSTM1 polymorphism. Conclusions: This meta-analysis demonstrated the GSTM1 and GSTT1 null genotypes are associated with an increased risk of NPC.

• 한국환경과학회지
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• 제21권11호
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• pp.1297-1305
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• 2012

Clonal plants combine sexual and clonal reproduction, which contribute differently to plant fitness. Reproductive analyses have highlighted the importance of clonal growth in shaping the spatial genetic structure in Potentilla conferta Bunge, a herbaceous rhizomatic clonal distributed in hot sand dunes. We investigated the reproduction system of P. conferta at two populations in Mongol and three natural populations in Uzbekistan. The measurements of 19 quantitative or qualitative morphological characters were taken on each of total individuals directly from their natural habitats. Some morphological characteristics between Mongolia and Uzbekistan populations showed a slight heterogeneity of variance. Especially, the length of internodes (LFI and LSI) and characteristics of root (LLR and NOR) were shown a significant difference between two countries (P<0.05). P. conferta of Uzbekistan has most ramets at short distance intervals 30~100 cm. In light conditions, P. conferta of Uzbekistan was significantly less resilience than P. conferta of Mogol. In drought conditions, although there was not shown significant difference, P. conferta in Uzbekistan was less resilience than that in Mogol. The core analysis indicates that P. conferta in Uzbekistan is the more resistant than that of Mongol and seems to do by sexual reproduction strategy during several strong environmental disadvantages such as drought events.