• Title/Summary/Keyword: clinic research

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Prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus

  • Lee, Dongsook;Park, Heeju;Kwak, Sanha;Lee, Soomin;Go, Sanghee;Park, Sohyun;Jo, Sukyung;Kim, Kichul;Lee, Seunggwan;Hwang, Doyeong
    • Journal of Genetic Medicine
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    • v.13 no.2
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    • pp.95-98
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    • 2016
  • We report the prenatal diagnosis of an unbalanced translocation between chromosome Y and chromosome 15 in a female fetus. Cytogenetic analysis of parental chromosomes revealed that the mother had a normal 46,XX karyotype, whereas the father exhibited a 46,XY,der(15)t(Y;15) karyotype. We performed cytogenetic analysis of the father's family as a result of the father and confirmed the same karyotype in his mother and brother. Fluorescence in situ hybridization and quantitative fluorescent-polymerase chain reaction analysis identified the breakpoint and demonstrated the absence of the SRY gene in female members. Thus, the proband inherited this translocation from the father and grandmother. This makes the prediction of the fetal phenotype possible through assessing the grandmother. Therefore, we suggest that conventional cytogenetic and molecular cytogenetic methods, in combination with family history, provide informative results for prenatal diagnosis and prenatal genetic counseling.

Treatment outcomes and prognostic factors in oral tongue cancer: a 20-year retrospective study at the National Cancer Center, South Korea

  • Kim, Min-Gyeong;Choi, Yong-Seok;Youn, Suk Min;Ko, Jae-Hee;Oh, Hyun Jun;Lee, Jong-Ho;Park, Joo-Yong;Choi, Sung-Weon
    • Journal of the Korean Association of Oral and Maxillofacial Surgeons
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    • v.48 no.4
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    • pp.192-200
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    • 2022
  • Objectives: This study aimed to analyze the treatment outcomes and to evaluate the clinicopathological prognostic factors of oral tongue cancer. Patients and Methods: We retrospectively analyzed treatment results and prognostic factors in 205 patients with oral tongue squamous cell carcinoma who were admitted to the National Cancer Center, South Korea, between January 2001 and December 2020. The patients were treated with surgery and postoperative, definitive radiotherapy (RT) or chemoradiotherapy (CRT). Results: Eighteen patients (8.8%) were treated with curative RT or CRT, while the rest (91.2%) were treated with surgery with or without postoperative RT or CRT. The median follow-up period was 30 months (range, 0-234 months). The 5-year overall survival (OS) and 5-year disease-free survival (DFS) were 72% and 63%, respectively. Multivariate analysis revealed that a positive neck nodal status (N1, N2-3) was significantly associated with poorer 5-year OS and DFS, while perineural invasion was associated with poorer 5-year DFS. Conclusion: Cervical metastasis and perineural invasion are significant prognostic predictors, and combination treatments are necessary for improving OS and DFS in patients with these factors.

Sex Determination by Polymerase Chain Reaction (Polymerase Chain Reaction을 이용한 성의 감별)

  • Sohn, Seong-Soo;Kang, Nam-I;Kim, Jae-Myung;Koh, Young-Ho;Suh, Byung-Hee
    • Clinical and Experimental Reproductive Medicine
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    • v.21 no.3
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    • pp.281-284
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    • 1994
  • Sex determination in genomic DNA from human blood leucocytes was performed by amplification of human Y chromosome-specific DNA sequences using PCR technique. A clear DNA fragment(154 nucleotides long) was appeared only in the male genomic DNA, but no specific band was observed in the case of female genomic DNA and negative control. To know the sensitivity of this method, the amplification reaction was performed in genomic DNA diluted to 2pg equivalent to the amonut present in the single human cell, and clear band also observed. The PCR amplification was so succesfully performed in the single leucocyte separated from human blood using micromanipulator that this techniqe is assumed to be applied to single blstomere before embryo transfer.

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Lack of any Association between Blood Groups and Lung Cancer, Independent of Histology

  • Oguz, Arzu;Unal, Dilek;Tasdemir, Arzu;Karahan, Samet;Aykas, Fatma;Mutlu, Hasan;Cihan, Yasemin Benderli;Kanbay, Mehmet
    • Asian Pacific Journal of Cancer Prevention
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    • v.14 no.1
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    • pp.453-456
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    • 2013
  • Introduction: Lung cancer, the leading cause of cancer deaths, is divided into 2 main classes based on its biology, therapy and prognosis: non-small cell lung cancer (NSCLC) and small cell lung cancer (SCLC). Many cases are at an advanced stage at diagnosis, which is a major obstacle to improving outcomes. It is important to define the high risk group patients for early diagnosis and chance of cure. Blood group antigens are chemical components on erythrocyte membranes but they are also expressed on a variety of epithelial cells. Links between ABO blood groups with benign or malignant diseases, such as gastric and pancreas cancers, have been observed for a long time. In this study, we aimed to investigate any possible relationship between lung cancer histological subtypes and ABO-Rh blood groups. Materials and Methods: The files of 307 pathologically confirmed lung cancer patients were reviewed retrospectively. Cases with a serologically determined blood group and Rh factor were included and those with a history of another primary cancer were excluded, leaving a total of 221. The distribution of blood groups of the lung cancer patients were compared with the distribution of blood groups of healthy donors admitted to the Turkish Red Crescent Blood Service in our city in the year 2012. Results: There was no significant difference between patients with lung cancer of either type and the control group in terms of distribution of ABO blood groups and Rh factor (p: 0.073). There was also no relationship with non small cell cancer histological subtypes. Conclusions: In this study, we found no relationship between the ABO-Rhesus blood groups and NSCLC and SCLC groups. To our knowledge this is the first analysis of ABO blood groups in SCLC patients.

Analysis of morbidity, mortality, and risk factors of tracheostomy-related complications in patients with oral and maxillofacial cancer

  • Lee, Seung Tae;Kim, Min Gyun;Jeon, Jae Ho;Jeong, Joo Hee;Min, Seung Ki;Park, Joo Yong;Choi, Sung Weon
    • Maxillofacial Plastic and Reconstructive Surgery
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    • v.38
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    • pp.32.1-32.6
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    • 2016
  • Background: This study aimed to analyze and describe the morbidity and mortality associated with tracheostomy in patients with oral cancer and to identify the risk factors associated with tracheostomy complications. Methods: We performed a retrospective chart review of patients who underwent tracheostomy during a major oral cancer resection between March 2001 and January 2016 at the National Cancer Center, Korea. Overall, we included 51 patients who underwent tracheostomy after oral cancer surgery. We assessed the morbidity and mortality of tracheostomy and determined the risks associated with tracheostomy complications. Results: Twenty-two tracheostomy-related complications occurred in 51 patients. The morbidity and mortality rates were 35.2 % (n = 18) and 0 % (n = 0), respectively. Tracheostomy-related complications were tracheitis (n = 4), obstructed tracheostomy (n = 9), displaced tracheostomy (n = 5), air leakage (n = 1), stomal dehiscence (n = 1), and decannulation failure (n = 2). Most complications (19/22) occurred during the early postoperative period. Considering the risk factors for tracheostomy complications, the type of tube used was associated with the occurrence of tracheitis (p < 0.05). Additionally, body mass index and smoking status were associated with tube displacement (p < 0.05). However, no risk factors were significantly associated with obstructed tracheostomy. Conclusions: Patients with risk factors for tracheostomy complications should be carefully observed during the early postoperative period by well-trained medical staff.

Metabolic Syndrome Prevalence in Renal Cell Cancer Patients

  • Bulut, Suleyman;Aktas, Binhan Kagan;Erkmen, Akif Ersoy;Ozden, Cuneyt;Gokkaya, Cevdet Serkan;Baykam, Mehmet Murat;Memis, Ali
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.18
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    • pp.7925-7928
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    • 2014
  • Purpose: Renal cell carcinoma (RCC) is increasingly being recognized as a metabolic disease in recent studies. The aim of the present study was to identify the prevalence of metabolic syndrome (MetS) and its association with RCC among urologic patients. Materials and Methods: The study included a total of 355 participants (117 adult RCC patients and 238 age matched controls) divided into groups, with and without MetS diagnosed using the criteria of the American Heart Association/The National Heart Lung and Blood Institute. Groups were compared statistically and logistic regression analysis was performed to investigate the impact of MetS criteria on RCC risk. Results: Of the 117 RCC patients, 52 (44.4%) and of the 238 controls, 37 (15.5%) had MetS. A significant association (p<0.001) was found between the presence of MetS and RCC (OR: 4.35; 95% CI=2.62-7.21). As the number of MetS components accumulated from 3 to 5, RCC risk increased likewise from 4 to 6 times. Conclusions: MetS is more prevalent in RCC patients in Turkey compared to controls. Risk increases with the number of coexisting MetS components.