• The Journal of the Korean life insurance medical association
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• v.18
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• pp.107-110
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• 1999

The disorders of congenital metabolic errors causing mental retardation can be prevented by early diagnosis and treatment. We analysed 144,000 neonatal blood samples for phenyketonuria(PKU), maple syrup urine disease(MSUD), homocystinuria(HCU) and histidinuria(HE) by bacterial inhibition method, and galactosemia(GAL) by Paigen method. In our survey, the positive were 4 samples in PKU(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), 8 samples in MSUD(4mg/dl;2, 6mg/dl;2, 8mg/dl;3, 10mg/dl;1), 4 samples in HCU(4mg/dl;2, 6mg/dl;2), 4 samples in Galactosemia(4mg/dl;2, 6mg/dl;1, 8mg/dl;1), respectively. while, no one was positive in HE. The frequncy rate were 1/36,000 for PKU, HCU and GAL, 1/18,000 for MSUD, respectively. But those for HE couldn't be detected in our survey. In this study, the hightest frequency rate was 1/18,000 of MSUD, following were 1/36,000 for PKU, HCU and GAL, respectively. As results our data, it is our opinion that neonatal screening should be performed in terms of national policies for ealy diagnosis and theraphy.

• Journal of Genetic Medicine
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• v.9 no.2
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• pp.73-77
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• 2012

Purpose: Fragile X carrier detection before or at early pregnancy through a wide screening program may not only confer a risk of having offspring with Fragile X syndrome (FXS), but may also confer a risk for Fragile X-associated primary ovarian insufficiency and Fragile X-associated tremor/ataxia syndrome. However, prior to the implementation of such a program, the carrier prevalence in a population and the availability of effective screening test should be evaluated. The aim of our study was to determine the prevalence of premutation carriers and to evaluate the feasibility of screening test. Materials and Methods: The blood samples were obtained from 8,641 pregnant women with no family history of mental retardation. We performed a three-primer CGG repeat primed (RP) PCR using the AmplideX$^{TM}$ FMR1 PCR kit (Asuragen, Inc. Austin, TX, USA). Samples showing full mutation alleles were reflexed to Southern blot analysis for methylation status and sizing. Results: Among the 8,641 women, we found 8 premutation carriers (1:1,090, 0.09%) and 46 women with an intermediate allele (1:190, 0.53%). No woman was found to carry the fully mutated allele. All the detected alleles were within the CGG repeat range of 8-117. Among the 8,641 samples, 29 and 30 CGG repeats represent 66.6% of all cases. The CGG RP PCR method provides robust detection of expanded alleles and resolves allele zygosity, thus minimizing the number of samples that require Southern blot analysis. Conclusion: This is the first study that has focused on the prevalence of FXS premutation carriers and FMR1 allele distribution in normal pregnant women. These data have important implications for population-based fragile X carrier screening in Korea.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.12
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• pp.5089-5095
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• 2014

Background: As a common and essential contrast medium at present, gadobenate dimeglumine has shown better performance than some other agents when applied to Breast Magnetic Resonance Imaging Screening (Breast MRI Screening). Nevertheless, reports on the diagnostic performance of these two mediums (gadobenate dimeglumine and gadopentetate dimeglumine) are not completely consistent. Objective: To assess the diagnostic value of gadobenate dimeglumine and gadopentetate dimeglumine for Breast MRI Screening in patients suffering from breast cancer and to provide more convinced evidence to guide clinical practice in terms of appropriate contrast agents. Data Sources and Review Methods: Original articles in English and Chinese published before January 2013 were selected from available databases (The Cochrane Library, PUBMED, EMBASE, Chinese Biomedical Literature Database, Chinese Scientific Journals Full-text Database, Chinese Journal Full-text). The criteria for inclusion and exclusion were based on the standard for diagnosis tests. Meta-Disc software (Version 1.4) was used for data analysis. Then, the area under curve (AUC) of SROC and the spearman rank correlation of sensitivity against (1-specificity) were calculated. Results: Total of 17 researches involving 1934 patients were included. The pooled sensitivity of gadobenate dimeglumine and gadopentetate dimeglumine were 0.99 (0.97, 1.00) and 0.93 (0.88, 1.00) respectively. The pooled specificity for these two contrast agents were 0.924 (0.902, 0.943) and 0.838 (0.817, 0.858) respectively, and the AUC of SROC curve were 0.9781 and 0.9215 respectively. Conclusions: Gadobenate dimeglumine can be regarded as a more effective and feasible contrast medium for Breast MRI Screening. At least 5% differences in diagnostic performance are usually considered as clinically relevant.

• Asian Pacific Journal of Cancer Prevention
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• v.17 no.sup3
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• pp.263-268
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• 2016

Cervical cancer is the fourth common cancer among women worldwide. Pap smear screening has resulted in deceasing incidence of cervical cancer in developed countries but low uptake of Pap smear screening among women in developing countries is still a public health challenge. The aim of this cross-sectional study was to assess the relationship between self-efficacy and timely uptake of Pap smear among Iranian women. A total of 580 married women referred to primary health care centers covered administratively by Shahid Beheshti University of Medical Sciences in Tehran were administered a questionnaire by trained staff. Data were analyzed with SPSS (version 16) software, using univariate and multivariate logistic regression. The mean age for participants was $33.1{\pm}8.8years$. There was a significant association between self-efficacy and Pap smear screening (P<0.01). There was also a positive correlation between duration of marriage and husband's education with Pap smear uptake (P<0.01). In univariate analysis, there was a significant association between Pap smear uptake and level of selfefficacy (OR = 15.3 for intermediate and OR=7.4 for good level), duration of marriage (OR = 5.7 for 5-14 years and OR=10.4 for more than 15), age (OR =2.7 for 27-34 years and OR=7.4 for more than 35 years) and husband education level (OR=2.3 for more than 12 years of education). In multivariate analysis, significant associations persisted between Pap smear uptake and self-efficacy (OR = 23.8; 95% CI: 8.7, 65.5), duration of marriage (OR = 5.9; 95% CI: 2.8, 12.2), age (OR = 3.9; 95% CI: 1.2, 12.9) and husband's education (OR = 2.5; 95% CI: 2.0, 10.3). Efforts are needed to increase women's knowledge about cervical cancer and improve their self-efficacy and perceptions of the Pap smear screening in order to reduce cervical cancer incidence and mortality rates.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.5
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• pp.3131-3137
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• 2013

Background: Visual inspection of cervix with acetic acid (VIA) is offered at 252 centers in 64 districts of Bangladesh. VIA+ve women are managed at colposcopy clinics of Bangabandhu Sheikh Mujib Medical University (BSMMU) and 14 Medical College Hospitals (MCHs). This research work has been supported by 'UICC Cancer Prevention Campaign' programme. Objectives: This study explored the role of print materials and electronic media to improve cervical cancer screening in the present socio-cultural context of Bangladesh. Methods: This study was performed from January to August 2011 at two upazilas of Bangladesh (Singair with screening facility and Sonargaon without screening facility). Data were collected by focus group discussion (FGD) with women, husbands and community people before and after intervention. Information on cervical cancer screening and VIA camps was disseminated using advertisement through local cable line of the television, microphone announcement, service providers and leaflet throughout the week prior to a VIA camp. Three-day VIA camps were organized at the upazila health complex (UHC) of both upazilas. Quantitative data was gathered from women at the camps on source of information on VIA and the best method of awareness creation. Results: The population was aware of "cancer" and a notable number knew about cervical cancer. Baseline awareness on prevention and VIA was low and it was negligible where screening services were unavailable. Awareness was increased fourfold in both upazilas after interventions and half of the women and the majority of the community people became aware of screening and available facilities. Cable line advertisement (25.5%), microphone announcement (21.4%), and discussion sessions (20.4%) were effective for awareness creation on VIA. Television was mentioned as the best method (37.4%) of awareness creation. Conclusion: Television should be used for nation-wide awareness creation. For local awareness creation, cable line advertisement, microphone announcements and health education at Uthan Baithaks/ EPI sessions can easily be adopted by the government.

• Korean Journal of Family Medicine
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• v.39 no.6
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• pp.333-339
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• 2018

Background: There is a distinction in alcohol consumption behavior between adults and college students. This study aims to verify the usability and the optimal cutoff point of Alcohol Use Disorders Identification Test-Korean revised version (AUDIT-KR) for screening alcohol use disorder in college students when the diagnostic and statistical manual of mental disorders (DSM), 5th edition diagnostic criteria is applied. Methods: A total of 922 college students living in Daejeon were enrolled and divided into two groups based on how many items they corresponded to among DSM-5 alcohol use disorder diagnostic criteria: those who corresponded to ${\geq}2$ of the 11 items were classified into the patient group (107 males, 89 females) while the others into the control group (311 males, 415 females). The participants were evaluated using AUDIT-KR to find the optimal cutoff point for screening alcohol use disorder, sensitivity, and specificity. Results: The mean${\pm}$standard deviation scores in the AUDIT-KR were $12.76{\pm}7.27$, $10.72{\pm}4.62$ for males and females, respectively, in the patient group. In contrast, in the control group the scores were $6.26{\pm}5.23$ and $3.95{\pm}3.59$ in males and females, respectively. The area under the receiver operating characteristic curve (95% confidence interval) regarding alcohol use disorder screening by AUDIT-KR was 0.768 (0.715-0.821) and 0.883 (0.848-0.919) for males and females, respectively. The optimal cutoff point of alcohol use disorder for males was >9, sensitivity 64.49%, and specificity 76.85%. The optimal cutoff point for females was >6, sensitivity 82.02%, and specificity 80.48%. Conclusion: This study suggested that AUDIT-KR can be used as a screening tool for alcohol use disorder in groups of college students when DSM-5 diagnosis criteria are applied.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.1
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• pp.215-220
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• 2014

Objective: To determine the expression of E-cadherin, ${\beta}$-catenin, and transcription factor 4 (TCF4) proteins in gastric diseases with relation to Helicobacter pylori infection. Methods: A total of 309 patients including 60 with superficial gastritis (SG), 57 with atrophic gastritis (AG) and 192 with gastric cancer (GC), were enrolled. The expression of E-cadherin, ${\beta}$-catenin, TCF4 proteins in the gastric mucosa was detected by immunohistochemistry and H. pylori infection by immunohistochemistry and PCR. Results: The expression rates of E-cadherin were significantly higher in SG and AG than in GC (P<0.01), while those of ${\beta}$-catenin in the nucleus were significantly lower in SG and AG than in GC (P<0.05). In GC cases, the expression rates of E-cadherin, ${\beta}$-catenin and TCF4 were significantly higher in the intestinal type than in the diffuse type (P<0.05). In GC patients, the expression rate of E-cadherin was significantly higher in the presence of H. pylori than in the absence of infection (P=0.011). Moreover, the expression level of TCF4 and ${\beta}$-catenin protein was significantly higher in the nucleus and cytoplasm in H. pylori positive than in H. pylori negative GC patients, especially in those with the intestinal type (all P < 0.05). Conclusion: The expression of E-cadherin and ${\beta}$-catenin progressively decreases during the process of GC tumorigenesis, while overexpression of TCF4 occurs. H. pylori infection is associated with a significant increase in the expression of E-cadherin and ${\beta}$-catenin in the cytoplasm and nucleus in GC patients, especially those with the intestinal type.

• Proceedings of the PSK Conference
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• 2001.04a
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• pp.223.2-223.2
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• 2001

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.4
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• pp.1667-1670
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• 2014

Background: Calprotectin in feces seems to be a more sensitive marker for gastrointestinal (GI) cancers than fecal occult blood, but its specificity may be too low for screening average risk populations. This study aims at evaluating the diagnostic value of fecal calprotectin as a screening biomarker for GI malignancies. Materials and Methods: In a case-control study, 100 patients with GI malignancies (50 patients with colorectal cancer and 50 patients with gastric cancer) and 50 controls were recruited in Tabriz Imam Reza and Sina hospitals during a 24-month period. One to two weeks after the last endoscopy/colonoscopy, fecal specimens were collected by the patients and examined by ELISA method for quantitative measurement of calprotectin content. The results were compared between the three groups. Results: The mean fecal calprotectin level was $109.1{\pm}105.3$ (2.3-454.3, median:74), $241.1{\pm}205.2$ (3.4-610.0, median:19.3) and $45.9{\pm}55.1{\mu}g/g$ (1.3-257.1, median:19.3) in gastric cancer, colorectal cancer and control group, respectively, the differences being significant (p<0.001) and remaining after adjustment for age. The optimal cut-off point for fecal calprotectin was ${\geq}75.8{\mu}g/g$ for distinguishing colorectal cancer from normal cases (sensitivity and specificity of 80% and 84%, respectively). This value was ${\geq}41.9{\mu}g/g$ for distinguishing gastric cancer from normal cases (sensitivity and specificity of 62%). Conclusions: Our results revealed that fecal calprotectin might be a useful and non-invasive biomarker for distinguishing colorectal cancer from non-malignant GI conditions. However, due to low sensitivity and specificity, this biomarker may not help physicians distinguishing gastric cancer cases from healthy subjects.

• Clinical and Experimental Pediatrics
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• v.63 no.2
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• pp.34-43
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• 2020

Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity. Thus, many countries have started disease screening programs for neonates. The present study aimed to determine the worldwide prevalence of classic phenylketonuria using the data of neonatal screening studies.The PubMed, Web of Sciences, Sciences Direct, ProQuest, and Scopus databases were searched for related articles. Article quality was evaluated using the Joanna Briggs Institute Critical Appraisal Evaluation Checklist. A random effect was used to calculate the pooled prevalence, and a phenylketonuria prevalence per 100,000 neonates was reported. A total of 53 studies with 119,152,905 participants conducted in 1964-2017 were included in this systematic review. The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand. A total of 46 studies were entered into the meta-analysis for pooled prevalence estimation. The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates (95% confidence interval, 5.07-6.93). The meta-regression test showed high heterogeneity in the worldwide disease prevalence (I²=99%). Heterogeneity in the worldwide prevalence of phenylketonuria is high, possibly due to differences in factors affecting the disease, such as consanguineous marriages and genetic reserves in different countries, study performance, diagnostic tests, cutoff points, and sample size.