• Asian Pacific Journal of Cancer Prevention
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• v.15 no.1
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• pp.45-48
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• 2014

Aims: Early diagnosis is important for cervical cancer treatment. This study aimed to characteriz the microRNA profile and target gene protein levels of cervical cancers in Uygur women for application in early diagnosis. Methods: The profiles of miRNA in cervical cancer and chronic cervicitis were analyzed with miRNAmicroarray V4.0. The expression of miR-101 was detected by real-time PCR and locked nucleotide acid in situ hybridization (LNA-ISH). Cox-2 protein levels were assessed by immunohistochemistry. Results: The microarray identified a set of 12 miRNAs significantly decreased in cervical cancer in comparison to the control group. Quantitative RT-PCR analysis showed miR-101 to be significantly downregulated in cancer tissues (p<0.05) while LNA-ISH showed miR-101 positive rates of 80% (20/25) and 8% (5/25) (p<0.05) in the control and cervical cancer groups. Cox-2 positive rates of cervical cancer and control groups were 84% (21/25) and 8% (2/25) (p<0.05). Conclusions: Use of down-regulation of miR-101 and up-regulation of Cox-2 as markers may play a role in early diagnosis of cervical cancer in Uygur women.

• Asian Pacific Journal of Cancer Prevention
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• v.13 no.9
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• pp.4745-4749
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• 2012

The diagnosis of malignant mesothelioma (MM) remains a clinical challenge and the fluorescence in situ hybridization (FISH) assay has been reported to be one promising tool. The present meta-analysis aimed to establish the overall diagnostic accuracy of FISH for diagnosing MM. After a systematic review of English language studies, the sensitivity, specificity and other measures of accuracy of FISH in the diagnosis of MM were pooled using random-effects models. Summary receiver operating characteristic curves were applied to summarize overall test performance. Nine studies met our inclusion criteria, the pooled sensitivity and specificity for FISH for diagnosing MM being 0.72 (95% CI 0.67-0.76) and 1.00 (95% CI 0.98-1.00), respectively. The positive likelihood ratio was 34.5 (95% CI 14.5-82.10), the negative likelihood ratio was 0.24 (95% CI 0.16-0.36), and the diagnostic odds ratio was 204.9 (95% CI 76.8-546.6), the area under the curve being 0.99. Our data suggest that the FISH assay is likely to be a useful diagnostic tool for confirming MM. However, considering the limited studies and patients included, further large scale studies are needed to confirm these findings.

• 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.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.10
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• pp.4665-4669
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• 2016

Purpose: To evaluate the legitimacy of a diagnosis of ASC-H in 5 cases which were followed up monthly for over 2 years with both cytology and HPV testing. Methods: Some 5 cases out of a total of 25.0 self-sampled Pap test patients diagnosed as ASC-H provided 119 specimens over 2 years, with HPV-DNA testing perormed using a E6 primer. Results: Cases 1, 2 and 3 showed SIL after the ASC-H diagnosis, while cases 4 and 5 showed and maintained NILM. Cases 1, 2 and 3 were further characterized by small atypical compressed binucleated cells, in which HPV was detected by in situ PCR. Case 4 showed a high N/C ratio in cells in sheets with a mild increase in chromatin. Case 5 demonstrated a high N/C ratio in small cells with no increase in chromatin. Conclusion: The finding of a compressed binucleated cells can define the difference between degenerated endocervical columnar cells and small atypical cells suggestive of HSIL. When small compressed binucleated squamous cells are detected, there may be a chance of continuing HPV infection and undetected SIL.

• BMB Reports
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• v.37 no.5
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• pp.522-526
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• 2004

Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that result from the loss of expression of imprinted genes in the paternal (PWS) or maternal (AS) 15q11-q13 chromosome. Diagnosis on a clinical basis is difficult in newborns and young infants; thus, a suitable molecular test capable of revealing chromosomal abnormalities is required. We used a variety of cytogenetic and molecular approaches, such as, chromosome G banding, fluorescent in situ hybridization, a DNA methylation test, and a set of chromosome 15 DNA polymorphisms to characterize a cohort of 27 PWS patients and 24 suspected AS patients. Molecular analysis enabled the reliable diagnosis of 14 PWS and 7 AS patients, and their classification into four groups: (A) 6 of these 14 PWS subjects (44%) had deletions of paternal 15q11-q13; (B) 4 of the 7 AS patients had deletions of maternal 15q11-q13; (C) one PWS patient (8%) had a maternal uniparental disomy (UPD) of chromosome 15; (D) the remaining reliably diagnoses of 7 PWS and 3 AS cases showed abnormal methylation patterns of 15q11-q13 chromosome, but none of the alterations shown by the above groups, although they may have harbored deletions undetected by the markers used. This study highlights the importance of using a combination of cytogenetic and molecular tests for a reliable diagnosis of PWS or AS, and for the identification of genetic alterations.

• Clinical and Experimental Pediatrics
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• v.53 no.3
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• pp.273-285
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• 2010

Completion of the human genome project has allowed a deeper understanding of molecular pathophysiology and has provided invaluable genomic information for the diagnosis of genetic disorders. Advent of new technologies has lead to an explosion in genetic testing. However, this overwhelming stream of genetic information often misleads physicians and patients into a misguided faith in the power of genetic testing. Moreover, genetic testing raises a number of ethical, legal, and social issues. Diagnostic genetic tests can be divided into three primary but overlapping categories: cytogenetic studies (including routine karyotyping, high-resolution karyotyping, and fluorescent in situ hybridization studies), biochemical tests, and DNA-based diagnostic tests. DNA-based testing has grown rapidly over the past decade and includes preandpostnatal testing for the diagnosis of genetic diseases, testing for carriers of genetic diseases, genetic testing for susceptibility to common non-genetic diseases, and screening for common genetic diseases in a particular population. Theoretically, once a gene's structure, function, and association with a disease are well established, the clinical application of genetic testing should be feasible. However, for routine applications in a clinical setting, such tests must satisfy a number of criteria. These criteria include an acceptable degree of clinical and analytical validity, support of a quality assurance program, possibility of modifying the course of the diagnosed disease with treatment, inclusion of pre-and postnatal genetic counseling, and determination of whether the proposed test satisfies cost-benefit criteria and should replace or complement traditional tests. In the near future, the application of genetic testing to common diseases is expected to expand and will likely be extended to include individual pharmacogenetic assessments.

• Journal of the Korean institute of surface engineering
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• v.55 no.6
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• pp.342-352
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• 2022

Purine catabolite screening enables reliable diagnosis of certain diseases. In this regard, the development of a facile detection strategy with high sensitivity and selectivity is demanded for point-of-care applications. In this work, the simultaneous detection of uric acid (UA), xanthine (XA), and hypoxanthine (HX) was carried out as model purine catabolites by surface-enhanced Raman Spectroscopy (SERS). The detection assay was conducted by employing high-aspect ratio Au nanopillar substrates coupled with in-situ Au electrodeposition on the substrates. The additional modification of the Au nanopillar substrates via electrodeposition was found to be an effective method to encapsulate molecules in solution into nanogaps of growing Au films that increase metal-molecule contact and improve substrate's sensitivity and selectivity. In complex solutions, the approach facilitated ternary identification of UA, XA, and HX down to concentration limits of 4.33 𝜇M, 0.71 𝜇M, and 0.22 𝜇M, respectively, which are comparable to their existing levels in normal human physiology. These results demonstrate that the proposed platform is reliable for practical point-of-care analysis of biofluids where solution matrix effects greatly reduce selectivity and sensitivity for rapid on-site disease diagnosis.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.49-51
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• 1998

Wolf-Hirschhorn syndrome (WHS) is caused by a deletion of the short arm on chromosome 4 and is characterized by multiple congenital abnormalities, growth and mental retardation. In this case report, we performed amniocentesis for the chromosome analysis on a 25-year-old pregnant woman at 16 weeks of gestation whom we suspected of Edward's syndrome by the triple test of maternal serum and ultrasonography. The result of analysis revealed a karyotype of the fetus with 46,XY,del(4)(p15) by trypsin Giemsa's banding technique. With the result, we were able to diagnose the fetus as having WHS. As such, after therapeutic termination of the pregnancy, we confirmed WHS through the sampling of tissue by both trypsin Giemsa's banding and fluorescence in situ hybridization (FISH) method. To determine the origin of the WHS, we further tested the karyotypes of the parents. As parental karyotypes were found to be normal, we determined the case of the fetal WHS to be de novo.

• International Journal of Industrial Entomology and Biomaterials
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• v.47 no.1
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• pp.1-11
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• 2023

The Indian golden muga silkworm, Antheraea assamensis Helfer is an economically important wild silkworm endemic to Northeastern part of India. In recent years, climate change has posed a threat to muga silk production due to the requirement that larvae be reared outdoors. Since the muga silkworm larvae are exposed to the vagaries of nature, the changing climate has increased the incidence of microbial diseases in the rearing fields. Accurate diagnosis of the disease causing pathogens and its associated epidemiology are prerequisites to manage the diseases in the rearing field. Although conventional microbial culturing methods are widely used to identify pathogenic bacteria, they would not provide meaningful information on a wide variety of silkworm pathogens. The information on use of molecular diagnostic tools in detection of microbial pathogens of wild silk moths is very limited. A wide range of molecular and immunodiagnostic techniques including denaturing gradient gel electrophoresis (DGGE), random amplified polymorphism (RAPD), 16S rRNA/ITSA gene sequencing, multiplex polymerase chain reaction (M-PCR), fluorescence in situ hybridization (FISH), immunofluorescence, and repetitive-element PCR (Rep-PCR), have been used for detecting and characterizing the pathogens of insects with economic significance. Nevertheless, the application of these molecular tools for detecting and typing entomopathogens in surveillance studies of muga silkworm rearing is very limited. Here, we discuss the possible application of these molecular techniques, their advantages and major limitations. These methods show promise in better management of diseases in muga ecosystem.

• Journal of Korea Technical Association of The Pulp and Paper Industry
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• v.33 no.5
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• pp.1-11
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• 2001

In the past, abundant and clean water was available for paper mills'use. However, the growth of population and industry made water less available nowadays. Also, environmental regulation limits wastewater discharge, which affects mill operation cost. Therefore, paper mills are under pressure to use more recycled water and mill system closure. As a result, chemical and physical parameters of water are changing and new environment if being created for microorganisms in paper mill system as well. The more soluble or suspended organic materials are increased as more water is recycled and less or scarce dissolved oxygen is available, depending on the degree of recycled water usage. Microorganism flora ill paper mill system will be a1so shifted according to the environmental change of mill system. Anaerobic bacteria, including sulfate reducing bacteria (SRB), will be dominant in the system as very low or almost no oxygen available in the system. Nevertheless, it is common in domestic paper mills that employ the same and old biocides as a means of microbial control, and microbiological control is often less recognized or even neglected. The right biocide selection for increased reductive environment of mills is critical for operation and estimated loss from paper quality defects such as sheet break, holes due to microbiological cause is tremendous compared to the microbiological control cost. It is imperative to investigate and diagnosis the environmental change of mills for right control of cumbersome microorganisms. Several useful diagnosis tools, including new technology employing OFM(Optical Fouling Monitor) in situ, are illustrated.