• Asian Pacific Journal of Cancer Prevention
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• v.15 no.21
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• pp.9495-9498
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• 2014

Background: The difference in prognosis of adult and childhood acute lymphoblastic leukemia (ALL) can be attributed largely to variation in cytogenetic abnormalities with age groups. Cytogenetic analysis in acute leukemia is now routinely used to assist patient management, particularly in terms of diagnosis, disease monitoring, prognosis and risk stratification. Knowing about cytogenetic profile at the time of diagnosis is important in order to take critical decisions in management of the patients. Aim and Objectives: To determine the frequency of cytogenetic abnormalities in Pakistani adult patients with ALL in order to have insights regarding behavior of the disease. Materials and Methods: A retrospective analysis of all the cases of ALL (${\geq}15$years old) diagnosed at Aga Khan University from January 2006 to June 2014 was performed. Phenotype (B/T lineage) was confirmed in all cases by flow cytometry. Cytogenetic analysis was made for all cases using the trypsin-Giemsa banding technique. Karyotypes were interpreted using the International System for Human Cytogenetic Nomenclature (ISCN) criteria. Results: A total of 166 patients were diagnosed as ALL during the study period, of which 151 samples successfully yielded metaphase chromosomes. The male to female ratio was 3.4:1. The majority (n=120, 72.3%) had a B-cell phenotype. A normal karyotype was present in 51% (n=77) of the cases whereas 49% (n=74) had an abnormal karyotype. Of the abnormal cases, 10% showed Philadelphia chromosome; t(9;22)(q34;q11.2). Other poor prognostic cytogenetic subgroups were t(4;11)(q21;q23), hypodiploidy (35-45 chromosomes) and complex karyotype. Hyperdiploidy (47-57 chromosomes) occurred in 6.6%; all of whom were younger than 30 years. Conclusions: This study showed a relatively low prevalence of Philadelphia chromosome in Pakistani adults with ALL with an increase in frequency with age (p=0.003). The cumulative prevalence of Philadelphianegative poor cytogenetic aberrations in different age groups was not significant (p=0.6).

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.30 no.2
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• pp.121-130
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• 2004

The purpose of this study was the long-term clinical and radiological evaluation of conservatively treated condylar fractures in children. This study was therefore undertaken to analyze the long-term effects of treating condylar fractures in children with conservative therapy in order to resolve the controversial question of whether complete remodeling occurs in this age or, if not, whether it is more likely to be associated with certain types of fracture or with other factors. This study was based on a series of 11 consecutive children and adolescents, aged between 3 and 15 years, with fractures of the condylar process who had been treated with conservative therapy at the Department of Oral & Maxillofacial surgery, Inha University Hospital, Inchon, Korea. All patients underwent a clinical investigation with special emphasis on Temporomandibular joint function and facial asymmetry. The patients also underwent a radiologic investigation, focusing on fracture remodeling and symmetry of mandible. It consists of panoramic radiograph, PA & lateral cephalogram and 3-D CT. No patient described impaired temporomandibular joint(TMJ) function or pain on the affected side. 2 of 8 (25%) unilateral and 1 bilateral fractures show slight facial asymmetry. Despite apparently excellent recovery of function, there were marked remodeling changes evident on the CT scan. Such changes are not usually evident on panoramic radiograph. Radiologic investigation showed incomplete remodelling(54.5%) and asymmetry of the mandible (27.3%) in some patients. Conservative treatment of condyle fracture in children results in satisfactory long-term outcome of jaw function despite a relative high frequency of radiologically noted aberrations.

• BMB Reports
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• v.47 no.1
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• pp.27-32
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• 2014

Plant abiotic stress tolerance has been modulated by engineering the trehalose synthesis pathway. However, many stress-tolerant plants that have been genetically engineered for the trehalose synthesis pathway also show abnormal development. The metabolic intermediate trehalose 6-phosphate has the potential to cause aberrations in growth. To avoid growth inhibition by trehalose 6-phosphate, we used a gene that encodes a bifunctional in-frame fusion (BvMTSH) of maltooligosyltrehalose synthase (BvMTS) and maltooligosyltrehalose trehalohydrolase (BvMTH) from the nonpathogenic bacterium Brevibacterium helvolum. BvMTS converts maltooligosaccharides into maltooligosyltrehalose and BvMTH releases trehalose. Transgenic rice plants that over-express BvMTSH under the control of the constitutive rice cytochrome c promoter (101MTSH) or the ABA-inducible Ai promoter (105MTSH) show enhanced drought tolerance without growth inhibition. Moreover, 101MTSH and 105MTSH showed an ABA-hyposensitive phenotype in the roots. Our results suggest that over-expression of BvMTSH enhances drought-stress tolerance without any abnormal growth and showes ABA hyposensitive phenotype in the roots.

• Journal of Genetic Medicine
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• v.2 no.2
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• pp.59-63
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• 1998

Between 1988-1998, cytogenetic analyses were performed for 1,476 couples and 162 women with recurrent abortions. We applied GTG-banding, high resolution-banding and FISH (fluorescent in situ hybridization) techniques in this study. The frequency of balanced translocations was 3.6% (112/3114). Of them, 74 cases (2.38%) were reciprocal translocations and 38 (1.22%) were robertsonian translocations. Chromosome aberrations were more frequent in women (80 cases) than in men (32 cases). No phenotypical abnormalities were found in all carriers who had experienced recurrent spontaneous abortions or experienced giving birth to malformed offsprings. Prenatal cytogenetic analyses were carried out on 40 subsequent pregnancies for carrier couples with balanced translocation. The fetal karyotypes showed that 13 cases (32.5%) were normal, 25 (62.5%) were balanced translocations, and two (6%) were unbalanced translocations. It is believed that the frequency of chromosomal abnormalities in patients with recurrent spontaneous abortion is higher than that of the normal population. Most of the fetal samples showed normal karyotypes or balanced translocations matching that of one of their parents. Although the incidence of chromosomal imbalance in the fetuses was relatively low in prenatal cytogenetic analysis, individuals with balanced translocations are predisposed to giving birth to malformed offsprings with partial trisomy or monosomy. Therefore, we recommend the cytogenetic and the prenatal cytogenetic analysis for those who experiences recurrent abortion as well as in case they become pregnant, to prevent the birth of offsprings with chromosomal abnormalities.

• Journal of Genetic Medicine
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• v.12 no.2
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• pp.118-122
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• 2015

Noninvasive prenatal test (NIPT) is a novel screening method for the diagnosis of fetal chromosomal aneuploidies. NIPT is based on technology that detects cell-free fetal DNA in maternal plasma and analyzes it with massively parallel sequencing technology to determine whether the fetus is at risk of trisomy 21, trisomy 18, trisomy 13 or sex chromosome abnormalities (SCAs). NIPT has been reported to have sensitivity of 99% and a false positive rate of less than 1% for detecting trisomy 21 and trisomy 18. Although extension of the application of NIPT to other SCAs has been attempted, there are concerns in extending NIPT to SCAs because of maternal or fetal mosaicism, undetected maternal SCAs, and multiple pregnancies. Recently, we assessed a pregnancy with the rare Turner syndrome mosaicism 45, X/47, XXX, which was reported as 45, X with NIPT. We present the case here and briefly review the current literatures on NIPT in testing for fetal monosomy X. To the best of our knowledge, this is the first report of the 45, X/47, XXX mosaicism in Korea to be reported as 45, X by NIPT with whole genome sequencing. This case report will provide valuable information for counseling women who want to undergo NIPT.

• Molecular & Cellular Toxicology
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• v.5 no.1
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• pp.83-87
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• 2009

In this study, we assessed the stability and toxicological safety of Angelica gigas Nakai (A. gigas Nakai) extract, which is comprised of decursin and decursinol angelate (D/DA). D/DA was tested for mutagenicity using Ames Salmonella tester strains (TA102, TA1535, and TA1537) with or without metabolic activation (S9 mix). No increase in the number of revertants was observed in response to any of the doses tested (1.25, 12.5, 125, and $1,250{\mu}/mLg$). In addition, a chromosome aberration test was conducted in the Chinese hamster lung (CHL) cell line. To accomplish this, cells were treated with D/DA (3.28, 13.12, 52.46, and $209.84{\mu}g/mL$) or with Mitomycin C ($0.1{\mu}/mLg$) as a positive control in the case of no metabolic activation or benzo(a)pyrene ($20{\mu}g/mL$) in the case of metabolic activation. No significant increase in chromosome aberrations was observed in response to treatment with any of these concentrations, regardless of activation of the metabolic system. According to these results, we concluded that D/DA did not induce bacterial reverse mutation or clastogenicity in vitro in the range of concentrations evaluated in these experiments.

• Molecular & Cellular Toxicology
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• v.3 no.1
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• pp.53-59
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• 2007

This study was conducted to evaluate the mutagenic potential of dimethyl isophthalate (DMIP) using Ames bacterial reverse mutation test, chromosomal aberration test and mouse lymphoma $tk^{+/-}$ gene assay. As results, in Ames bacterial reversion assay, DMIP was tested up to the concentration of 5,000 ${\mu}g$/plate and did not induce mutagenicity in Salmonella typhimurium strains TA98, TA100, TA1535 and TA1537, and Escherichia coli WP2uvrA with or without metabolic activation (S9 mix). Using cytotoxicity test, the maximal doses of DMIP for chromosomal aberration assay were determined at 1,250 ${\mu}g/mL$, which was a minimum precipitation concentration ($IC_{50}>1,940\;{\mu}g/mL$ or 10 mM) and at 155 ${\mu}g/mL$ ($IC_{50}:155\;{\mu}g/mL$) in the presence and the absence, respectively, of S9 mix. DMIP in the presence of S9 mix induced statistically significant (P<0.001) increases in the number of cells with chromosome aberrations at the dose levels of over 250 ${\mu}g/mL$, when compared with the negative control. However, DMIP in the absence of S9 mix did not caused significant induction in chromosomal aberrant cells. In MLA, DMIP at the dose range of 242.5-1,940 ${\mu}g/mL$ in the presence of S9 mix induced statistically significant increases in mutation frequencies related to small colony growth, whereas any significant mutation frequency was not observed in absence of S9 mix. From these results, it is conclusively suggested that dimethyl isophthalate may be a clastogen rather than a point mutagen.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.7
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• pp.4393-4398
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• 2013

Background: Chromosomal translocations are genetic aberrations associated with specific non-Hodgkin lymphoma (NHL) subtypes. This study investigated the differential gene expression profile of Egyptian NHL cases based on a microarray approach. Materials and Methods: The study included tissue samples from 40 NHL patients and 20 normal lymph nodes used as controls. Total RNA was extracted and used for cDNA microarray assays. The quantitative real time polymerase chain reaction was used to identify the aberrantly expressed genes in cancer. Results: Significant associations of 8 up-regulated and 4 down-regulated genes with NHL were observed. Aberrant expression of a new group of genes not reported previously was apparent, including down-regulated NAG14 protein, 3 beta hydroxy-delta 5-c27 steroid oxi-reductase, oxi-glutarate dehydrogenase (lipo-amide), immunoglobulin lambda like polypeptide 3, protein kinase x linked, Hmt1, and caveolin 2 Tetra protein. The up-regulated genes were Rb binding protein 5, DKFZP586J1624 protein, protein kinase inhibitor gamma, zinc finger protein 3, choline ethanolamine phospho-transferase CEPT1, protein phosphatase, and histone deacetylase-3. Conclusions: This study revealed that new differentially expressed genes that may be markers for NHL patients and individuals who are at high risk for cancer development.

• Korean Journal of Head & Neck Oncology
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• v.14 no.1
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• pp.20-26
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• 1998

Objectives: Deletion in the short arm of chromosome 3 is common in many human cancers, including sporadic and hereditary renal carcinomas, small cell lung carcinomas, non-small cell lung carcinomas, and carcinomas of the ovary, breast, and cervix. A high frequency of chromosomal aberrations in head and neck cancers involving chromosome 3p has also been reported. These findings suggest that multiple tumor suppressor genes may be present on the short arm of chromosome 3. Materials and Methods: To investigate the possibility of chromosome 3p deletions in the Korean head and neck cancer patients, we applied a polymerase chain reaction(PCR)-based Restriction Fragment Length Polymorphism analysis to the DNA samples of matched normal mucosa and head and neck squamous cell carcinomas from 19 patients. Results: In the 19 normal samples heterozygosity at the polymorphic loci varied: 6 at the D3F15S2 locus(on telomeric 3p21), 2 at the D3S32 locus(on centromeric 3p21), and 4 at the THRB locus(on centromeric 3p24). In 12 matched carcinoma specimens, LOH(loss of heterozygosity) was observed at D3F15S2 in 1 of 6(17%), D3S32 in 1 of 2(50%), and at THRB in 2 of 4 cases(50%). Conclusion: The frequency of chromosome 3p deletion in the Korean head and neck carcinomas appear as other country did.

• The Journal of Korean Physical Therapy
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• v.13 no.1
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• pp.127-137
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• 2001

Low back pain is significant problem in today's society, with lifetime incidence rate reported between 50% and 90%. Many factors associated with LBP are reported. The purpose of this studies were to be evaluated static standing posture aberrations in chronic LBP in comparison with healthy individuals. The samples including 80 subjects recruited to the following two groups:patients and control(normal) Questionnaires were completed by 40 LBP patients and 40 controls at the department of Physical Therapy, Saejong neurosurgical clinic in Taegu city from October 1, 1999 to March 30, 2000. The angle of lumbar lordosis was measured on lateral x-ray films with standing position. In LBP groups. the mean degree of lumbar lordosis, sacral inclination, and lumbosacral joint angle were 29.9 ${\pm}$ 9.3, 34.8 ${\pm}$ 8.2, and 12.7 ${\pm}$ 5.7 respectively. Control groups, the mean degree of lumbar lordosis, sacral inclination and lumbosacral joint angle were 35.3 ${\pm}$ 7.8, 34.9 ${\pm}$ 6.4 and 12.5 ${\pm}$ 4.3 respectively. there were significantly decreaseds in lumbar lordosis in Low back pain group. lumbar lordosis on the working posture had significant differences among groups(sitting position patients 31.4 ${\pm}$ 9.3, standing position patients 29.4 ${\pm}$ 9.3, sitting position control 35.0 ${\pm}$ 6.4, standing position control 35.5 ${\pm}$ 8.8, respectively) (p=0.034). sacral inclination on the working posture had differences among groups(sitting position patients 35.9 ${\pm}$ 8.7.standing position patients 33.6 ${\pm}$ 7.6, sitting position control 33.9 ${\pm}$ 5.9. standing position control 35.6 ${\pm}$ 6.8, respectively). lumbersacral joint angle on the working Posture had differences among groups(sitting position patients 12.0 ${\pm}$ 5.6, standing position patients 13.4 ${\pm}$ 5.9, sitting position control 11.2 ${\pm}$ 3.0. standing position control 13.4$^{\circ}$, respectively).