Complete Blood Count Reference Intervals and Patterns of Changes Across Pediatric, Adult, and Geriatric Ages in Korea

BACKGROUND: Sampling a healthy reference population to generate reference intervals (RIs) for complete blood count (CBC) parameters is not common for pediatric and geriatric ages. We established age- and sex-specific RIs for CBC parameters across pediatric, adult, and geriatric ages using secondary data, evaluating patterns of changes in CBC parameters. METHODS: The reference population comprised 804,623 health examinees (66,611 aged 3–17 years; 564,280 aged 18–59 years; 173,732 aged 60–99 years), and, we excluded 22,766 examinees after outlier testing. The CBC parameters (red blood cell [RBC], white blood cell [WBC], and platelet parameters) from 781,857 examinees were studied. We determined statistically significant partitions of age and sex, and calculated RIs according to the CLSI C28-A3 guidelines. RESULTS: RBC parameters increased with age until adulthood and decreased with age in males, but increased before puberty and then decreased with age in females. WBC and platelet counts were the highest in early childhood and decreased with age. Sex differences in each age group were noted: WBC count was higher in males than in females during adulthood, but platelet count was higher in females than in males from puberty onwards (P < 0.001). Neutrophil count was the lowest in early childhood and increased with age. Lymphocyte count decreased with age after peaking in early childhood. Eosinophil count was the highest in childhood and higher in males than in females. Monocyte count was higher in males than in females (P < 0.001). CONCLUSIONS: We provide comprehensive age- and sex-specific RIs for CBC parameters, which show dynamic changes with both age and sex.

Comparison of Traditional and Reverse Syphilis Screening Algorithms in Medical Health Checkups

BACKGROUND: The syphilis diagnostic algorithms applied in different countries vary significantly depending on the local syphilis epidemiology and other considerations, including the expected workload, the need for automation in the laboratory and budget factors. This study was performed to investigate the efficacy of traditional and reverse syphilis diagnostic algorithms during general health checkups. METHODS: In total, 1,000 blood specimens were obtained from 908 men and 92 women during their regular health checkups. Traditional screening and reverse screening were applied to the same specimens using automatic rapid plasma regain (RPR) and Treponema pallidum latex agglutination (TPLA) tests, respectively. Specimens that were reverse algorithm (TPLA) reactive, were subjected to a second treponemal test performed by using the chemiluminescent microparticle immunoassay (CMIA). RESULTS: Of the 1,000 specimens tested, 68 (6.8%) were reactive by reverse screening (TPLA) compared with 11 (1.1%) by traditional screening (RPR). The traditional algorithm failed to detect 48 specimens [TPLA(+)/RPR(−)/CMIA(+)]. The median TPLA cutoff index (COI) was higher in CMIA-reactive cases than in CMIA-nonreactive cases (90.5 vs 12.5 U). CONCLUSIONS: The reverse screening algorithm could detect the subjects with possible latent syphilis who were not detected by the traditional algorithm. Those individuals could be provided with opportunities for evaluating syphilis during their health checkups. The COI values of the initial TPLA test may be helpful in excluding false-positive TPLA test results in the reverse algorithm.

Comparison of Urine Albumin-to-Creatinine Ratio (ACR) Between ACR Strip Test and Quantitative Test in Prediabetes and Diabetes

BACKGROUND: Albuminuria is generally known as a sensitive marker of renal and cardiovascular dysfunction. It can be used to help predict the occurrence of nephropathy and cardiovascular disorders in diabetes. Individuals with prediabetes have a tendency to develop macrovascular and microvascular pathology, resulting in an increased risk of retinopathy, cardiovascular diseases, and chronic renal diseases. We evaluated the clinical value of a strip test for measuring the urinary albumin-to-creatinine ratio (ACR) in prediabetes and diabetes. METHODS: Spot urine samples were obtained from 226 prediabetic and 275 diabetic subjects during regular health checkups. Urinary ACR was measured by using strip and laboratory quantitative tests. RESULTS: The positive rates of albuminuria measured by using the ACR strip test were 15.5% (microalbuminuria, 14.6%; macroalbuminuria, 0.9%) and 30.5% (microalbuminuria, 25.1%; macroalbuminuria, 5.5%) in prediabetes and diabetes, respectively. In the prediabetic population, the sensitivity, specificity, positive predictive value, negative predictive value, and overall accuracy of the ACR strip method were 92.0%, 94.0%, 65.7%, 99.0%, and 93.8%, respectively; the corresponding values in the diabetic population were 80.0%, 91.6%, 81.0%, 91.1%, and 88.0%, respectively. The median [interquartile range] ACR values in the strip tests for measurement ranges of 300 mg/g were 9.4 [6.3-15.4], 46.9 [26.5-87.7], and 368.8 [296.2-575.2] mg/g, respectively, using the laboratory method. CONCLUSIONS: The ACR strip test showed high sensitivity, specificity, and negative predictive value, suggesting that the test can be used to screen for albuminuria in cases of prediabetes and diabetes.

Human Papillomavirus Genotype Distribution Among 18,815 Women in 13 Korean Cities and Relationship With Cervical Cytology Findings

BACKGROUND: The prevalence and genotype distribution of Human papillomavirus (HPV) infection vary depending on geographical region and the immunity provided by vaccines. This study aimed to clarify the recent prevalence and genotype distribution of HPV according to age and cervical cytology findings in Korea. METHODS: This study included 18,815 health examinees that underwent cervical cytology and HPV genotyping tests at 16 centers of Korean Association of Health Promotion in 13 cities in Korea, between January 2014 and October 2015. HPV was genotyped by using multiplex PCR (Anyplex II HPV 28, Seegene, Korea), which detects 19 high-risk HPVs (HR-HPV) and nine low-risk HPVs (LR-HPV). RESULTS: Overall HPV prevalence was 27.8%, with 22.2% HR-HPV and 11.4% LR-HPV. The five most common carcinogens were HPV 52 (3.2%), 58 (2.7%), 16 (2.0%), 56 (1.9%), and 51 (1.8%). The five most common HR-HPVs in normal cytology samples were HPV 53, 68, 70, 52, and 58, while HPV 16, 52, 58, 33, and 31 were prevalent in high grade squamous intraepithelial lesions (HSIL). In atypical squamous cells of undetermined significance (ASCUS), the prevalence of HR-HPV varied with age; it was highest in those aged <30 yr, declining to a minimum at age 50–59 yr, and then increasing in older women (P<0.05). CONCLUSIONS: The prevalence and distribution of HR-HPV varied with age and cervical cytology findings. This information would be helpful in the development of cervical cancer prevention policies.

Comparing Results of Five Glomerular Filtration Rate-Estimating Equations in the Korean General Population: MDRD Study, Revised Lund-Malmö, and Three CKD-EPI Equations

BACKGROUND: Estimated glomerular filtration rate (eGFR) is a widely used index of kidney function. Recently, new formulas such as the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) equations or the Lund-Malmö equation were introduced for assessing eGFR. We compared them with the Modification of Diet in Renal Disease (MDRD) Study equation in the Korean adult population. METHODS: The study population comprised 1,482 individuals (median age 51 [42-59] yr, 48.9% males) who received annual physical check-ups during the year 2014. Serum creatinine (Cr) and cystatin C (CysC) were measured. We conducted a retrospective analysis using five GFR estimating equations (MDRD Study, revised Lund-Malmö, and Cr and/or CysC-based CKD-EPI equations). Reduced GFR was defined as eGFR <60 mL/min/1.73 m2. RESULTS: For the GFR category distribution, large discrepancies were observed depending on the equation used; category G1 (≥90 mL/min/1.73 m2) ranged from 7.4-81.8%. Compared with the MDRD Study equation, the other four equations overestimated GFR, and CysC-based equations showed a greater difference (-31.3 for CKD-EPI(CysC) and -20.5 for CKD-EPI(Cr-CysC)). CysC-based equations decreased the prevalence of reduced GFR by one third (9.4% in the MDRD Study and 2.4% in CKD-EPI(CysC)). CONCLUSIONS: Our data shows that there are remarkable differences in eGFR assessment in the Korean population depending on the equation used, especially in normal or mildly decreased categories. Further prospective studies are necessary in various clinical settings.

Association of Homocysteine Levels with Subclinical Coronary Atherosclerosis in Asymptomatic Subjects

BACKGROUND: Progression of atherosclerotic plaques is known to be correlated with elevated circulating homocysteine (Hcy). However, whether the level of Hcy is related with coronary atherosclerosis in the subclinical state is unclear. Therefore, we performed this study to investigate the relationship between blood Hcy levels and subclinical atherosclerosis in asymptomatic self-referred subjects. METHODS: We retrospectively enrolled 2,968 self-referred asymptomatic subjects (1,374 men, 1,594 women) who had undergone both coronary CT angiography (CCTA) and coronary artery calcium scoring. The relationships between atherosclerosis, Hcy, and other clinical factors were assessed. RESULTS: Higher levels of Hcy were related with age, male gender, body mass index (BMI), waist circumference, blood pressure, high density lipoprotein (HDL), triglyceride, blood glucose, HbA1c, hsCRP, and coronary artery calcium score (CACS). Coronary plaque was more frequently found in higher Hcy quartile groups (21.3%, 28.8%, 34.4%, and 34.3%, P50%) was also more frequent in higher Hcy quartile groups (1.8%, 5.4%, 5.0%, and 6.6%, P400) than the first quartile group. CONCLUSIONS: Blood Hcy levels were associated with an increased risk of the presence and extent of subclinical atherosclerosis in asymptomatic subjects.

Association between Metabolic Syndrome and Psychological Characteristics in Korean Postmenopausal Women

BACKGROUND: Metabolic syndrome is a major health problem in postmenopausal women, along with psychological issues. Hence, this study was conducted to investigate the relationship between metabolic syndrome and mental health properties targeting middle-aged menopausal women, and analyzed the psychological factors affecting the prevalence of metabolic syndrome. METHODS: The study subjects were 479 postmenopausal women aged 45-64 years, who had taken their routine health screenings from August to October in 2012. The presence of 3 or more of 5 risk factors constitutes diagnosis of metabolic syndrome. Depression, trait anxiety, and stress level were measured by Beck Depression Inventory, State-Trait Inventory, and Brief Encounter Psychological Instrument, respectively. Multiple logistic regression analysis was performed to confirm the relationship between the metabolic syndrome and psychological characteristics. RESULTS: The prevalence of metabolic syndrome in postmenopausal women was 16.5%. Metabolic syndrome was significantly related with trait anxiety (odds ratio [OR]=16.53, P=0.007) and depression (OR=0.16, P=0.012), after adjusting for age, marital status, educational level, monthly income, body mass index, eating habits and exercise. CONCLUSIONS: Trait anxiety and depression were found to be related with the prevalence of metabolic syndrome in postmenopausal women.

Vitamin D Levels and Prevalence of Vitamin D Deficiency Associated with Sex, Age, Region, and Season in Koreans

BACKGROUND: Although many studies on vitamin D have been conducted, they have not been consistent regarding the method of measurement, the individuals investigated, and the season of blood sampling. Thus, this study was performed to investigate 25-hydroxy vitamin D [25(OH)D] levels and the prevalence of 25(OH)D deficiency by age, region, and season using the standard method for vitamin D measurement. METHODS: A total of 17,252 health examinees (9,180 men and 8,072 women) who were administered the vitamin D test at 16 health promotion centers in 13 cities in Korea from January to December 2013 were selected for this study. Measurements of 25(OH)D2 and 25(OH)D3 were performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) using the MSMS Vitamin D Kit. RESULTS: The levels of 25(OH)D were significantly lower among women than men. The median 25(OH)D value was lowest among men and women in their 20s when compared to other age groups. We observed the lowest levels in January and February and the highest levels in August, September, and October. The prevalence of 25(OH)D deficiency (having levels of <10 ng/mL) was significantly higher among women than men. When different age groups were analyzed, the highest rates of 25(OH)D deficiency were found in their 20s, and prevalence decreased with age (up to an age of 60 years). Lastly, the prevalence of 25(OH)D deficiency was highest in Seoul and the Gyeonggi area when compared to other regions. CONCLUSIONS: Level of 25(OH)D and the prevalence of 25(OH)D deficiency differed by sex, age, month (season), and region.

Vitamin D Levels and Prevalence of Vitamin D Deficiency Associated with Sex, Age, Region, and Season in Koreans

BACKGROUND: Although many studies on vitamin D have been conducted, they have not been consistent regarding the method of measurement, the individuals investigated, and the season of blood sampling. Thus, this study was performed to investigate 25-hydroxy vitamin D [25(OH)D] levels and the prevalence of 25(OH)D deficiency by age, region, and season using the standard method for vitamin D measurement. METHODS: A total of 17,252 health examinees (9,180 men and 8,072 women) who were administered the vitamin D test at 16 health promotion centers in 13 cities in Korea from January to December 2013 were selected for this study. Measurements of 25(OH)D2 and 25(OH)D3 were performed by liquid chromatography-tandem mass spectrometry (LC-MS/MS) using the MSMS Vitamin D Kit. RESULTS: The levels of 25(OH)D were significantly lower among women than men. The median 25(OH)D value was lowest among men and women in their 20s when compared to other age groups. We observed the lowest levels in January and February and the highest levels in August, September, and October. The prevalence of 25(OH)D deficiency (having levels of <10 ng/mL) was significantly higher among women than men. When different age groups were analyzed, the highest rates of 25(OH)D deficiency were found in their 20s, and prevalence decreased with age (up to an age of 60 years). Lastly, the prevalence of 25(OH)D deficiency was highest in Seoul and the Gyeonggi area when compared to other regions. CONCLUSIONS: Level of 25(OH)D and the prevalence of 25(OH)D deficiency differed by sex, age, month (season), and region.

Association of Metabolic Factors and Prostate-Specific Antigen Levels with Prostate Volume in Medical Check-ups

BACKGROUND: Baseline prostate volume (PV) is related with the progression of benign prostatic hyperplasia (BPH). Although recent studies have reported the relationship between BPH and metabolic syndrome, the findings are inconsistent. Thus, this study was performed to investigate the association of PV with metabolic factors and prostate-specific antigen (PSA) in individuals with normal PV and clarify the factors associated with benign prostate enlargement (BPE), including PSA. METHODS: We selected 3,915 health examinees aged >40 yr with a PSA level or =30 mL). We investigated the association of PV with metabolic factors and PSA using multiple linear regression analysis, and clarified the factors associated with BPE using logistic regression analysis. RESULTS: The factors associated with PV were PSA, age, and waist circumference in individuals with normal PV. The factors associated with BPE were age, body mass index (BMI), and PSA. The logistic regression analysis adjusted for age and confounding factors showed that individuals with a BMI of 23-24.9 kg/m2, 25-29.9 kg/m2, and > or =30 kg/m2 had higher odds ratios of 1.580 (95% confidence interval, 1.171-2.131; P=0.003), 1.767 (1.332-2.344; P<0.001), and 2.024 (1.042-3.933; P=0.038), respectively, for BPE than individual with a BMI <23 kg/m2. CONCLUSIONS: Abdominal obesity was significantly associated with PV in individuals with normal PV, whereas obesity was an associated metabolic factor of BPE. PSA level was positively associated with PV.

Relationships between obesity, blood and urinary compositions, and dietary habits and depressed mood in Koreans at the age of 40, a life transition period / 한국영양학회지

This study was designed to investigate the relationships of depressed mood with obesity, blood and urinary compositions, and dietary habits in Koreans at the age of 40, a critical transition to the middle adulthood stage. A total of 27,684 people who have taken the Life Transition Period Health Examination at the Korea Association of Health Promotion in 2011 were divided into two groups; the depressed mood group (DG) and the non-depressed group (NG) according to results of the primary questionnaire for mental health. The results were analyzed using the health examination criteria of the National Health Insurance Corporation. Women and medicaid recipients showed higher incidence of depressed mood than men and health insurance subscribers. People with underweight in BMI or abdominal obesity showed correlation with depressed mood, while there was no significant relationship with metabolic syndrome. Regarding blood and urinary compositions, DG was related to a higher level of hemoglobin and lower levels of HDL-cholesterol and triglyceride, although the relationships diminished after adjustment for other confounder effects. According to dietary habits, more people in DG were categorized as a group for "Needs Much Improvement", and the odds ratio of the depressed mood showed a significant increase. Significant difference regarding the frequency of food items such as milk products, animal proteins, Kimchi, and fruits was observed between DG and NG. In addition, a higher portion of subjects in DG did not consume regular meals and various kinds of food. In conclusion, the depressed mood of 40 year-old adults was significantly related to underweight, higher waist measurement, and undesirable dietary habits. Results of our study can be applicable as a basic resource for development of effective nutrition counseling and education programs for improvement of mental health promotion during the critical transition to the middle adulthood stage.

Association of Blood Homocysteine levels with Subclinical Atherosclerosis in Impaired Fasting Glucose

BACKGROUND: Prediabetes is the condition associated with the development of type 2 diabetes and a risk of cardiovascular disease. Abnormal homocysteine levels have been found to be associated with atherosclerosis in diabetes, but not well studied in pre-diabetes. In this study we investigated the relationship between blood homocysteine levels and subclinical atherosclerosis in the individuals with impaired fasting glucose. METHOD: Individuals with impaired fasting glucose with fasting blood glucose concentrations of 100-125 mg/dL (1,537 men and 1,563 women) were selected from 10,848 health examinees who underwent an ultrasonographic examination of carotid artery during health check-up over 20 yr. The subjects were divided into 4 quartile groups depending on homocysteine levels. We investigated the association of each homocysteine quartile with abnormal carotid intima-media thickness (CIMT) and carotid plaque by using logistic regression analysis. RESULTS: Factors associated with abnormal CIMT and carotid plaque were age, homocysteine levels, blood pressure, and fasting blood glucose levels. Logistic regression analysis adjusted for gender and confounding factors showed that the third- and fourth- quartile homocysteine level groups had higher odds ratios ([OR]-95% confidence interval [CI])- for abnormal CIMT (1.656 [1.11-2.47], P=0.013, 1.966 [1.32-2.93], P=0.001, respectively) and for carotid plaque (1.608 [1.01-2.56], P=0.045, 1.913 [1.22-3.00], P=0.005, respectively) than did the first quartile group. CONCLUSION: Blood homocysteine levels showed a statistically significant correlation with subclinical atherosclerosis in individuals with impaired fasting glucose.

Serologic Survey of Toxoplasmosis in Seoul and Jeju-do, and a Brief Review of Its Seroprevalence in Korea

Knowledge of the prevalence of human Toxoplasma gondii infection is required in the Republic of Korea. In this study, we surveyed the seroprevalence of T. gondii infection and analyzed the risk factors associated with seropositivity among residents in 2 administrative districts; Seoul and the island of Jeju-do, which have contrasting epidemiologic characteristics. Sera and blood collected from 2,150 residents (1,114 in Seoul and 1,036 in Jeju-do) were checked for IgG antibody titers using ELISA and for the T. gondii B1 gene using PCR. In addition, participants completed a questionnaire that solicited information on gender, age, occupation, eating habits, history of contact with animals, and travel abroad. The T. gondii B1 gene was not detected in all residents examined. However, ELISA showed 8.0% (89 of 1,114 sera) positive for IgG antibodies against T. gondii in Seoul and 11.3% (117 of 1,036 sera) in Jeju-do. In both districts, the positive rates were higher in males than in females, and those 40-79 years of age showed higher rates than other ages. In Seoul, residents older than 70 years of age showed the highest positive rate, 14.9%, whereas in Jeju-do the highest prevalence, 15.6%, was in those in their sixties. The higher seropositive rate in Jeju-do than in Seoul may be related to eating habits and occupations. The present results and a review of related literature are indicative of an increased seroprevalence of T. gondii in Korea in recent years.

Relationship of White-Matter Lesions and Lacunar Infarcts with Cardiovascular Risk Factors

BACKGROUND: Magnetic resonance imaging (MRI) findings of white-matter lesions are different from those of lacunar infarcts; however, both these conditions are related to cardiovascular risk factors. This study was performed to investigate the differences in the relationships of white-matter lesions and lacunar infarcts with cardiovascular risk factors and differences between the metabolic characteristics of patients with these conditions. METHODS: We included 4,255 patients who showed neurological deficits during health checkups. These individuals were classified into the following 3 groups on the basis of MRI findings: normal, white-matter lesion, and lacunar infarct. The groups were compared for age; weights; prevalence of metabolic syndrome; and levels of blood pressure, blood glucose, lipid, high sensitivity C-reactive protein, and HbA1c. RESULTS: Age, body mass index (BMI); waist circumference; levels of blood pressure, blood glucose, triglycerides and HbA1c; and prevalence of metabolic syndrome and its components were the highest in lacunar infarct group, followed by white matter lesion group, and normal group. Age and diastolic blood pressure level were related to white matter lesions, and age, systolic blood pressure level, and blood glucose level were related to lacunar infarcts. Further, the prevalence of the above-mentioned lesions increased with increase of the number of the components of metabolic syndrome. CONCLUSIONS: This study suggests that lacunar infarct is more advanced lesion than white matter lesion. Among all the cardiovascular risk factors, high blood pressure and impaired fasting blood glucose levels were significantly related to white-matter lesions and lacunar infarct.

History of the Korean Society of Blood Transfusion and Blood Services in Korea / 대한수혈학회지

The Korean Society of Blood Transfusion (KSBT) was established in Seoul in 1982 by a group of physicians of clinical pathology (currently laboratory medicine), internal medicine, paediatrics, anaesthesiology, and surgery, who were members of the Korean Society of Hematology, in which they had been actively engaged as transfusion specialists. However, these physicians were dissatisfied with the lack of public recognition of blood transfusion and the unrealistic blood service system and therefore attempted to build an influential organization for improvement of blood services and transfusion medicine. The mission of the KSBT is to advance the science and practice of transfusion medicine. The KSBT advocates for education and research in the fields of transfusion medicine and for safe blood in blood services. The inaugural KSBT conference, with approximately 50 participants, was held in November, 1982; since then, annual conferences and educational workshops have been held regularly once or twice a year. Currently, the KSBT has approximately 800 members, who are practitioners of blood transfusion (holders of M.D.) or staff members of blood services (holders of other professional degrees). The Society also publishes the Korean Journal of Blood Transfusion (first issue published in 1990) and guidelines for blood services. A Society web site (http://www.transfusion.or.kr) was started in 2001, with the hope of increasingly providing information and feedback to members on a real-time basis. The KSBT has been an active participant in international activities. In 1995, the KSBT hosted the Sixth ISBT Western Pacific Regional Congress in Seoul and will host the 33rd ISBT Congress in Seoul in 2014. Since its inauguration, the KSBT has had key roles not only in education and research in the fields of transfusion medicine but also in development of safe-blood services during the last 30 years.

Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea

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.

Prenatal Population Screening for Fragile X Carrier and the Prevalence of Premutation Carriers in Korea

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.

Incidence and Spectrum of Chromosomal Abnormalities associated with Spontaneous Abortions in Korea: 470 Products of Conception over a Period of 6 Years (2005-2010)

PURPOSE: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea. MATERIALS AND METHODS: Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age. RESULTS: The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3%), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities. CONCLUSIONS: We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.

Relationship between Hemoglobin A1c Levels and Metabolic Syndrome using Data Collected during a Medical Check-ups Program

BACKGROUND: Hemoglobin A1c (HbA1c) level is an indicator of the average blood glucose concentration of the past 2 to 3 months. Studies on the association of HbA1c levels with cardiovascular disease have reported inconsistent findings groups stratified by gender, age, and race. Therefore we conducted this study to determine the relationship between HbA1c levels and metabolic syndrome in a Korean population participating in medical check-up programs. METHODS: The study population comprised 7,301 nondiabetic Korean subjects (3,384 men and 3,917 women) who had enrolled for a medical check-up program. All subjects were divided into 5 groups on the basis of their HbA1c levels. Age, blood pressure, abdominal obesity, fasting glucose levels, lipid profile and high sensitivity C-reactive protein (hsCRP) levels were compared among the groups. In addition, we also investigated the association of HbA1c levels with cardiovascular risk factors and metabolic syndrome. RESULTS: Age, waist circumference, body mass index, blood pressure, hsCRP levels, lipid profile and fasting glucose levels differed significantly among the 5 HbA1c groups, both in men and women. The possibility of the occurrence of metabolic syndrome increased as HbA1c levels increased, both in men and women. Abdominal obesity was the most common component of metabolic syndrome and more prominently occurred in women. CONCLUSIONS: HbA1c levels were significantly correlated to metabolic syndrome among these Korean subjects and abdominal obesity was the most frequently observed component of metabolic syndrome. Thus, abdominal obesity should be treated when high HbA1c levels are detected, particularly in women, even though the patient is not diabetic.

A Case of Post-Essential Thrombocythemia Myelofibrosis with Severe Osteosclerosis / 대한진단검사의학회지

Essential thrombocythemia (ET) is a chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. After many years, a few patients with ET may develop bone marrow (BM) fibrosis and rarely develop osteosclerosis. A 60-yr-old female was admitted due to severe left upper quadrant abdominal discomfort. She had been diagnosed as ET 19 yrs ago. On liver computed tomography severe splenomegaly was shown. Laboratory tests revealed WBC 24.3x10(9)/L, hemoglobin 13.4 g/dL, platelets 432x10(9)/L, lactate dehydrogenase 4,065 IU/L (reference range; 240-480). Blood smear demonstrated leukoerythroblastosis, teardrop cells, and giant and hypogranular platelets. BM study revealed inadequate aspirate due to dry tap. BM biopsy showed clusters of dysplastic megakaryocytes, grade 3 fibrosis, and severe osteosclerosis. Major/minor BCR-ABL1 rearrangement and JAK2 V617F mutation were not detected. Cytogenetic studies revealed normal karyotype. According to the 2008 WHO diagnostic criteria, the patient was diagnosed as having post-essential thrombocythemia myelofibrosis with severe osteosclerosis.