• Title/Summary/Keyword: Abnormalities Detection

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Pre-vaccination Prevalence and Genotype Distribution of Human Papillomavirus Infection among Women from Urban Tunis: a Cross-sectional Study

  • Guettiti, Haifa;Ennaifer, Emna;Attia, Leila;Chelly, Dalenda;Alaya, Nissaf Ben;Aissa, Rim Ben;Laassili, Thalja;Boubaker, Samir
    • Asian Pacific Journal of Cancer Prevention
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    • v.15 no.21
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    • pp.9361-9365
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    • 2014
  • Background: To estimate the pre-vaccination distribution of human papillomavirus (HPV) types among women from urban Tunis. Materials and Methods: A total of 611 women aged 18-69 years were enrolled in three local gynaecological outpatient departments. All underwent a gynaecological examination with Pap test and dry swab for HPV detection and typing performed by linear array genotyping test (Roche). Cytological examination was conducted on conventional Pap smears. Results: HPV DNA was found in 6.5% of the women; the most frequent HPV types were HPV 16 and HPV 11 at 3.27% and 1.96%, respectively. The second most frequent high risk (HR) HPV type was HPV 58 (0.82%) followed by HPV 18, HPV 31 and HPV 33 found in only 0.33% of women. Single infections with HPV types, targeted by the quadrivalent vaccine (6, 11, 16, and 18), were detected in 3.6 % of the study patients (55% of positive women). HPV infection was found in 3.83% of women with normal cytology and in 47.4% of women with cytological abnormalities. No statistically significant trend in prevalence by age group emerged for any HPV type or for high or low risk types. Conclusions: These data show a relatively low prevalence of HPV infection in women from urban Tunis with a high proportion of HPV16 and HPV58. This should be considered in the upcoming screening programs and vaccination strategy.

Chromosome Aberrations in Porcine Embryo Produced by Nuclear Transfer with Somatic Cell

  • Ah, Ko-Seung;Jin, Song-Sang;Tae, Do-Jeong;Chung, Kil-Saeng;Lee, Hoon-Taek
    • Proceedings of the Korean Society of Embryo Transfer Conference
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    • 2002.11a
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    • pp.73-73
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    • 2002
  • Nuclear transfer (NT) techniques have advanced in the last years, and cloned animals have been produced by using somatic cells in several species including pig. However, it is difficult that the nuclear transfer porcine embryos development to blastocyst stage overcoming the cell block in vitro. Abnormal segregation of chromosomes in nuclear transferred embryos on genome activation stage bring about embryo degeneration, abnormal blastocyst, delayed and low embryo development. Thus, we are evaluated that the correlations of the frequency of embryo developmental rates and chromosome aberration in NT and In viかo fertilization (IVF) derived embryo. We are used for ear-skin-fibroblast cell in NT. If only karyotyping of embryonic cells are chromosomally abnormal, they may difficultly remain undetected. Then, we evaluate the chromosome aberrations, fluorescent in situ hybridization (FISH) with porcine chromosome 1 submetacentric specific DNA probe were excuted. In normal diploid cell nucleus, two hybridization signal was detected. In contrast, abnormal cell figured one or three over signals. The developmental rates of NT and IVF embryos were 55% vs 63%, 32% vs 33% and 13% vs 17% in 2 cell, 8 cell and blastocyst, respectively. When looking at the types of chromosome aberration, the detection of aneuploidy at Day 3 on the embryo culture. The percentage of chromosome aneuploidy of NT and IVF at 4-cell stage 40.0%, 31.3%, respectively. This result indicate that chromosomal abnormalities are associated with low developmental rate in porcine NT embryo. It is also suggest that abnormal porcine embryos produced by NT associated with lower implantation rate, increase abortion rate and production of abnormal fetuses.

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Genomic Alteration of Bisphenol A Treatment in the Testis of Mice

  • Kim, Seung-Jun;Park, Hye-Won;Youn, Jong-Pil;Ha, Jung-Mi;An, Yu-Ri;Lee, Chang-Hyeon;Oh, Moon-Ju;Oh, Jung-Hwa;Yoon, Seok-Joo;Hwang, Seung-Yong
    • Molecular & Cellular Toxicology
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    • v.5 no.3
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    • pp.216-221
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    • 2009
  • Bisphenol A (BPA) is commonly used in the production of pharmaceutical, industrial, and housing epoxy, as well as polycarbonate plastics. Owing to its extensive use, BPA can contaminate the environment either directly or through derivatives of these products. BPA has been classified as an endocrine disruptor chemicals (EDCs), and the primary toxicity of these EDCs in males involves the induction of reproductive system abnormality. First, in order to evaluate the direct effects on the Y chromosome associated with reproduction, we evaluated Y chromosome abnormalities using a Y chromosome microdeletion detection kit. However, we detected no Yq abnormality as the result of BPA exposure. Secondly, we performed high-density oligonucleotide array-based comparative genome hybridization (CGH) to assess genomic alteration as a component of our toxicity assessment. The results of our data analysis revealed some changes in copy number. Seven observed features were gains or losses in chromosomal DNA (P-value<1.0e-5, average log2 ratio>0.2). Interestingly, 21 probes of chr7:7312289-10272836 (qA1-qA2 in cytoband) were a commonly observed amplification (P-value 3.69e-10). Another region, chr14:4551029-10397399, was also commonly amplified (P-value 2.93e-12, average of log2 ratios in segment>0.3786). These regions include many genes associated with pheromone response, transcription, and signal transduction using ArrayToKegg software. These results help us to understand the molecular mechanisms underlying the reproductive effects induced by BPA.

Detection of Change in Water System Due to Collapse of Laos Xe pian-Xe namnoy Dam Using KOMPSAT-5 Satellites (KOMPSAT-5 위성 영상을 활용한 라오스 세피안-세남노이 댐 붕괴에 따른 수계변화 탐지)

  • Kim, Yunjee;Lee, Moungjin;Lee, Sunmin
    • Korean Journal of Remote Sensing
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    • v.35 no.6_4
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    • pp.1417-1424
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    • 2019
  • Recently, disaster accidents have occurred frequently over the world, and disaster have been continuously studied using remote sensing due to large scale and hard-to-reach features. The collapse of Laos Xe pian-Xe namnoy dam in 2018 also caused a lot of human and economic damage. This study's purpose is to change detect water system due to the collapse of Xe pian-Xe namnoy dam in Laos and to derive areas where future flooding is expected. The water system is extracted from each image of KOMPSAT-5 before and after the dam collapse in order to quantitatively change detect in the water system. The result of the water system area increased more than 10 times after the dam collapse. In addition, it is confirmed that the newly created water system is thickly created in areas of low altitude area. This study result can be used in the future to systematize the pre-response to abnormalities and issues in existing operating dams. And then, if combined with other remote sensing data, more diverse and specific results could be obtained.

Isolation of akabane virus and its molecular diagnosis by reverse transcription polymerase chain reaction (아까바네 바이러스의 분리 및 RT-PCR 진단법에 관한 연구)

  • Cho, Jae-jin;Lee, Chung-gil;Park, Bong-kyun;Chang, Chung-ho;Chung, Chung-won;Cho, In-soo;An, Soo-hwan
    • Korean Journal of Veterinary Research
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    • v.40 no.1
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    • pp.42-48
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    • 2000
  • Akabane disease is transmitted through mosquitoes in cattle, sheep and goats. It shows congenital abnormalities including encephalomyetitis, hydranencephaly, neurogenic arthrogryposis, and deformed neonatal calves. Akabane viruses, 93FMX and K-9 strain, were isolated from fetal matrix of aborted cow and blood of healthy cow, respectively. S gene sequences of 93FMX and K-9 showed 100% homology with that of OBE-1 strain isolated in Japan. Based upon our sequencing data, we synthesized specific primers for PCR diagnosis. Using these primers, we were able to amplify the S gene of Akabane virus not only from the culture fluid of Vero cells but also from the brain tissue of suckling mouse inoculated with, Akabane virus. These PCR products were confirmed by Southern blot hybridization. Not only the sensitivity of PCR test was high enough to detect the viruses of $10^{1.0}TCID_{50}/ml$, but also the time for diagnosis was significantly shorter than that of the virus isolation by tissue culture method. This method was also effective for the detection of Akabane virus in the cerebrum of fetus. RT-PCR method may be used for a useful diagnostic test of the clinical cases of Akabane disease.

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Coexistent Parathyroid Adenoma and Well Differentiated Thyroid Careinoma (분화성 갑상선암과 공존한 부갑상선 선종)

  • Lee Joon-Ho;Chung Woong-Youn;Park Cheong-Soo
    • Korean Journal of Head & Neck Oncology
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    • v.13 no.2
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    • pp.241-246
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    • 1997
  • It has become evident in recent years that parathyroid adenoma and well differentiated thyroid cancer occur together more than would be expected by chance alone. However, the association between them is not well understood. We have experienced 4 cases of coexistent parathyroid adenoma and well-differentiated thyroid cancer during the past 16 years. None of them had a familial incidence or a history of radiation exposure. Three cases showed symptomatic hypercalcemia(including renal stones, bone pain, joint pain) and in two of them(patient 1 and patient 2), thyroid abnormalities were detected preoperatively by neck ultrasonography or neck CT for evaluation of parathyroid lesions. However, in patient 3, a parathyoid humor was identified and removed incidentally during the course of thyroidectomy. In 3 cases, surgeries for thyroid carcinoma and parathyroid adenoma were performed during the same exploration of the neck, but in patient 4, thyroidectomy preceded parathyroidectomy; The interval between thyroidectomy and subsequent parathyroidectomy was 11 yeras. The thyroid tumors in 3 cases were papillary carcinoma, the sizes of which ranged from 1.0 cm to 1.5 cm in greatest diameter. The remaining case(patient 4) was minimal invasive follicular carcinoma. Total or near-total thyroidectomy with various types of cervical lymphnode dissection and bilateral neck exploration for the parathyroid lesion was performed in 3 cases with papillary carcinoma. Ipsilateral lobectomy and contralateral partial thyroidectomy with consequent unilateral neck exploration for the parathyroid tumor was performed in the case of follicular cancer. In our experience, parathyroid adenoma and well-differentiated thyroid carcinomas can be coexistent and we felt that the attention to the hypercalcemic patients would be needed for detection of this rare condition.

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An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening

  • Chang, Li-Jung;Chen, Shee-Uan;Tsai, Yi-Yi;Hung, Chia-Cheng;Fang, Mei-Ya;Su, Yi-Ning;Yang, Yu-Shih
    • Clinical and Experimental Reproductive Medicine
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    • v.38 no.3
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    • pp.126-134
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    • 2011
  • Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence $in-situ$ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium.

Cow Residual Feed Intake(RFI) monitoring and metabolic abnormality prediction system using wearable device for Milk cow and Beef

  • Chang, Jin-Wook;Kwak, Ho-Young
    • Journal of the Korea Society of Computer and Information
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    • v.26 no.10
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    • pp.139-145
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    • 2021
  • In this paper, by using the cattle feed intake, rumination, and in heat monitoring technology, RFI (Residual Feed Intake) monitoring and wearable devices and PCs for predicting abnormalities in budding target web and smart A monitoring system using a phone application was designed and implemented. With the development of this system, the farmer is expected to increase economic efficiency. By analyzing the feed intake, it is possible to identify the difference between the recommended feed amount based on the cow's weight and the feed amount consumed by the cow, and it is expected that early detection of metabolic disorders (abnormality of metabolism) is possible. Farmers using the results of this thesis can distinguish the cows with the most efficient performance, and the 6-axis motion sensor signals input from the wearable device attached to the cow's skin (neck) and the microphone attached to the wearable device. It is possible to measure the cow's rumination and feed intake through the sound of the cow's throat. In the future, improvements will be made to measure additional vital signs such as heart rate and respiration.

Genetic overgrowth syndrome: A single center's experience

  • Cheon, Chong Kun;Kim, Yoo-Mi;Yoon, Ju Young;Kim, Young A
    • Journal of Genetic Medicine
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    • v.15 no.2
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    • pp.64-71
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    • 2018
  • Purpose: Overgrowth syndromes are conditions that involve generalized or localized areas of excess growth. In this study, the clinical, molecular, and genetic characteristics of Korean patients with overgrowth syndrome were analyzed. Materials and Methods: We recruited 13 patients who presented with overgrowth syndrome. All patients fulfilled inclusion criteria of overgrowth syndrome. Analysis of the clinical and molecular investigations of patients with overgrowth syndrome was performed retrospectively. Results: Among the 13 patients with overgrowth syndrome, 9 patients (69.2%) were found to have molecular and genetic causes. Among the seven patients with Sotos syndrome (SS), two had a 5q35microdeletion that was confirmed by fluorescent in situ hybridization. In two patients with SS, intragenic mutations including a novel mutation, c.5993T>A (p.M1998L), were found by Sanger sequencing. One patient had one copy deletion of NDS1 gene which was confirmed by multiplex ligation-dependent probe amplification. Among five patients with Beckwith-Wiedemann syndrome, three had aberrant imprinting control regions; 2 hypermethylation of the differentially methylated region of H19, 1 hypomethylation of the differentially methylated region of Kv. In one patient displaying overlapping clinical features of SS, a de novo heterozygous deletion in the chromosomal region 7q22.1-22.3 was found by single nucleotide polymorphism-based microarray. Conclusion: Considering high detection rate of molecular and genetic abnormalities in this study, rigorous investigations of overgrowth syndrome may be an important tool for the early diagnosis and genetic counseling. A detailed molecular analysis of the rearranged regions may supply the clues for the identification of genes involved in growth regulation.

Clinical Characteristics and Gustatory Profiles in Patients with Subjective Taste Complaints

  • Kim, Seo-Yeong;Byun, Jin-Seok;Jung, Jae-Kwang;Choi, Jae-Kap
    • Journal of Oral Medicine and Pain
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    • v.44 no.3
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    • pp.103-111
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    • 2019
  • Purpose: Patients with taste complaints presenting with various abnormal perceptions and alterations in gustatory function are often encountered in dental clinics. Since taste perception is thought to be influenced by numerous factors including neurological and psychological factors, the gustatory profiles of patients complaining of taste abnormalities should be very different. However, the gustatory profiles based on the clinical subtypes of taste complaints have not been fully studied. This study aimed to better understand the gustatory profiles depending on the clinical subtypes of taste complaints. Methods: Clinical data from 169 patients with complaints of altered taste were retrospectively collected to analyse their clinical and gustatory profiles. These complaints were subdivided into hypergeusia, hypogeusia, and dysgeusia for each taste quality according to the clinical types of these complaints. The gustatory profiles were then established by analysing the detection and recognition thresholds for each taste quality depending on the clinical subtypes of taste complaints. Results: Clinical analysis revealed that patients with taste complaints had widely diverse clinical profiles. There were significant differences between males and females with taste complaints in the prevalence rates of symptoms like dry mouth, tongue coating, and burning sensation. While hypogeusia (76.3%) was the most frequent type of taste complaint, it was revealed that the taste thresholds were not always consistent with the patient's description of gustatory symptoms. Conclusions: Patients with taste complaints exhibited diverse clinical profiles with sex differences. Considering the diversity of the taste complaints, the quantitative gustatory testing methods can be valuable to differentially evaluate the presence and intensity of altered taste in patients with these complaints.