Sleep Duration and the Risk of Type 2 Diabetes: A Community-Based Cohort Study with a 16-Year Follow-up

Background@#We aimed to investigate the moderating effects of obesity, age, and sex on the association between sleep duration and the development of diabetes in Asians. @*Methods@#We analyzed data from a cohort of the Korean Genome and Epidemiology Study conducted from 2001 to 2020. After excluding shift workers and those with diabetes at baseline, 7,407 participants were stratified into three groups according to sleep duration: ≤5 hoursight, >5 to 7 hoursight (reference), and >7 hoursight. The Cox proportional hazards analyses were used to calculate the hazard ratios (HRs) and 95% confidence intervals (CIs) for incident type 2 diabetes mellitus (T2DM). Subgroup analyses were performed according to obesity, age, and sex. @*Results@#During 16 years of follow-up, 2,024 cases of T2DM were identified. Individuals who slept ≤5 hight had a higher risk of incident diabetes than the reference group (HR, 1.17; 95% CI, 1.02 to 1.33). The subgroup analysis observed a valid interaction with sleep duration only for obesity. A higher risk of T2DM was observed in the ≤5 hoursight group in non-obese individuals, men, and those aged 7 hoursight group in obese individuals (HRs were 1.34 [95% CI, 1.11 to 1.61], 1.22 [95% CI, 1 to 1.49], and 1.18 [95% CI, 1.01 to 1.39], respectively). @*Conclusion@#This study confirmed the effect of sleep deprivation on the risk of T2DM throughout the 16-year follow-up period. This impact was confined to non-obese or young individuals and men. We observed a significant interaction between sleep duration and obesity.

Characteristics of Hearing Loss Among Older Adults in the Korean Genome and Epidemiology Study: A Community-Based Longitudinal Cohort Study With an 8-Year Follow-up

Objectives@#. This study investigated the 8-year incidence and progression of hearing loss (HL) and its types and examined the risk factors for changes in HL. @*Methods@#. This longitudinal cohort study analyzed data from the Korean Genome and Epidemiology Study (KoGES), an ongoing, prospective, community-based cohort study that has been conducted since 2001. Altogether, 1,890 residents of urban areas in Korea aged 45–75 years at time 1 (baseline) were included in the study. Pure-tone audiometry (PTA) testing was performed twice, at time 1 (2008–2009) and time 2 (2015–2018, follow-up), 8 years apart. HL grades were defined as seven mutually exclusive categories following the revised World Health Organization classification. Incidence was defined as PTA >20 dB HL in the better ear at time 2 among those without HL at time 1. Progression was defined as the progressive deterioration of HL among those with HL at time 1. The three types of HL constituted sensorineural (SNHL), conductive, and mixed HL. @*Results@#. At time 1, 36.40% of patients were diagnosed with HL, which increased to 51.64% at time 2. The 8-year incidence of HL was 27.20%, and progressive deterioration of HL occurred in 23.11% of those with HL. SNHL was the most common type of HL, and its prevalence markedly increased at time 2. Multivariate analysis demonstrated that the incidence of HL was significantly associated with increasing age, male sex (odds ratio [OR], 1.73; 95% confidence interval [CI], 1.07–2.81), and diabetes mellitus (OR, 1.43; 95% CI, 1.04–1.96). Alcohol consumption was a risk factor for HL deterioration among those with HL at time 1. @*Conclusion@#. The prevalence and deterioration of HL were extremely high among older adults, and age was the strongest risk factor for these changes. Therefore, timely screening and intervention are necessary to prevent HL and delay its deterioration among older adults.

Severity of Daytime Sleepiness and Parkinsonian-Like Symptoms in Korean Adults Aged 50–64 Years

Background@#and Purpose While excessive daytime sleepiness can predate Parkinson’s disease in late-life, its association with parkinsonian-like (P-L) symptoms in middle age are unknown. Since neurodegeneration can appear decades before a diagnosis of Parkinson’s disease, identifying clinical features associated with this early progression is important. The purpose of this study was to determine the association of daytime sleepiness with P-L symptoms in a population-based sample of middle-aged Korean adults. @*Methods@#During 2013 and 2014, daytime sleepiness and P-L symptoms were assessed in 2,063 males and females aged 50–64 years who were participating in the Korean Genome and Epidemiology Study. The severity of daytime sleepiness was quantified by the score on the Epworth Sleepiness Scale (ESS). Self-reported P-L symptoms included nine motor disorders commonly associated with Parkinson’s disease. Participants with parkinsonism and related conditions are excluded. @*Results@#The prevalence of excessive daytime sleepiness (ESS score >10) was 7.0%. The frequencies of P-L symptoms ranged from 0.5% (for “trouble buttoning buttons”) to 18.4% (for “handwriting smaller than it once was”). After adjustment for covariates and multiple testing, the relative odds of P-L symptoms comparing the 80th and 20th percentiles of ESS scores was 1.6 (p=0.001) for “voice is softer than it once was,” 2.1 (p<0.001) for “balance when walking is poor,” and 1.5 (p=0.002) for “loss of facial expression.” The prevalence of excessive daytime sleepiness increased from 6.3% to 19.8% when the number of symptoms increased from zero to three (p=0.004). @*Conclusions@#In Korean adults aged 50–64 years, daytime sleepiness is significantly associated with P-L symptoms. Whether coexisting daytime sleepiness and P-L symptoms predate extrapyramidal and other impairments in later life warrants further investigation.

Impact of Model-Based Iterative Reconstruction on the Correlation between Computed Tomography Quantification of a Low Lung Attenuation Area and Airway Measurements and Pulmonary Function Test Results in Normal Subjects

OBJECTIVE: To compare correlations between pulmonary function test (PFT) results and different reconstruction algorithms and to suggest the optimal reconstruction protocol for computed tomography (CT) quantification of low lung attenuation areas and airways in healthy individuals. MATERIALS AND METHODS: A total of 259 subjects with normal PFT and chest CT results were included. CT scans were reconstructed using filtered back projection, hybrid-iterative reconstruction, and model-based IR (MIR). For quantitative analysis, the emphysema index (EI) and wall area percentage (WA%) were determined. Subgroup analysis according to smoking history was also performed. RESULTS: The EIs of all the reconstruction algorithms correlated significantly with the forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) (all p < 0.001). The EI of MIR showed the strongest correlation with FEV1/FVC (r = −0.437). WA% showed a significant correlation with FEV1 in all the reconstruction algorithms (all p < 0.05) correlated significantly with FEV1/FVC for MIR only (p < 0.001). The WA% of MIR showed the strongest correlations with FEV1 (r = −0.205) and FEV1/FVC (r = −0.250). In subgroup analysis, the EI of MIR had the strongest correlation with PFT in both ever-smoker and never-smoker subgroups, although there was no significant difference in the EI between the reconstruction algorithms. WA% of MIR showed a significantly thinner airway thickness than the other algorithms (49.7 ± 7.6 in ever-smokers and 49.5 ± 7.5 in never-smokers, all p < 0.001), and also showed the strongest correlation with PFT in both ever-smoker and never-smoker subgroups. CONCLUSION: CT quantification of low lung attenuation areas and airways by means of MIR showed the strongest correlation with PFT results among the algorithms used, in normal subjects.

Self-reported Sleep Impairment in Functional Dyspepsia and Irritable Bowel Syndrome

BACKGROUND/AIMS: Sleep impairment is a common complaint among patients with irritable bowel syndrome (IBS) and functional dyspepsia (FD). This study aimed to evaluate the prevalence of sleep impairment in FD or IBS patients, and to determine whether IBS-FD overlap induced more sleep disturbance than FD or IBS alone. METHODS: A population-based cohort in South Korea including 2251 subjects was asked about gastrointestinal symptoms including IBS and dyspepsia-related symptoms. In addition, sleep disturbance was measured using the Pittsburgh Sleep Quality Index and Epworth Sleepiness Scale questionnaires. One-way ANOVA and logistic regression were used to assess differences among the 4 groups (healthy subjects, IBS alone, FD alone, and IBS-FD overlap). RESULTS: Of 2251 subjects who were surveyed by questionnaire, 2031 responded (92.5% response rate) and were analyzed. The prevalence of IBS, FD, and IBS-FD overlap was 8.0% (95% confidence interval [CI], 6.8–9.2%), 4.8% (95% CI, 3.9–5.8%), and 1.8% (95% CI, 1.2–2.4%), respectively. FD alone, but not IBS alone, was significantly associated with a poorer sleep quality index (OR, 2.68; 95% CI, 1.43–5.01) and more daytime sleepiness (OR, 2.21; 95% CI, 1.14–4.30), compared to healthy subjects. IBS-FD overlap had the greatest likelihood of a poorer sleep quality index (OR, 3.88; 95% CI, 1.83–8.19), daytime sleepiness (OR, 2.47; 95% CI, 1.01–5.67), and insomnia (OR, 2.84; 95% CI, 1.39–5.82), compared to healthy subjects. CONCLUSION: A correlation between functional gastrointestinal disorders and sleep disturbance was demonstrated, which was significantly pronounced in the context of IBS-FD overlap.

A follow-up study of the association between mobile phone use and symptoms of ill health

Objectives: The duration and frequency of mobile phone calls, and their relationship with various health effects, have been investigated in our previous cross-sectional study. This 2-year period follow-up study aimed to assess the changes in these variables of same subjects.Methods: The study population comprised 532 non-patient adult subjects sampled from the Korean Genome Epidemiology Study. The subjects underwent a medical examination at a hospital in 2012/2013 and revisited the same hospital in 2014/2015 to have the same examination for the characteristics of mobile phone use performed. In addition, to evaluate the effects on health, the Headache Impact Test-6 (HIT-6), Psychosocial Well-being Index-Short Form, Beck Depression Inventory, Korean-Instrumental Activities of Daily Living, Perceived Stress Scale, Pittsburgh Sleep Quality Index, and 12-item Short Form Health Survey were analyzed. For all these tests, the higher the score, the greater the effect on health. Variances between scores in all the indices in the baseline and follow-up surveys were calculated, and correlations of each index were analyzed.Results: The average duration per call and HIT-6 score of the subjects decreased significantly compared with those recorded two years ago. The results showed a slight but significant correlation between call duration changes and HIT-6 score changes for female subjects, but not for males. HIT-6 scores in the follow-up survey significantly decreased compared to those in the baseline survey, but long-time call users (subjects whose call duration was ≥5 minutes in both the baseline and follow-up surveys) had no statistically significant reduction in HIT-6 scores.Conclusions: This study suggests that increased call duration is a greater risk factor for increases in headache than any other type of adverse health effect, and that this effect can be chronic.

A follow-up study of the association between mobile phone use and symptoms of ill health

Objectives: The duration and frequency of mobile phone calls, and their relationship with various health effects, have been investigated in our previous cross-sectional study. This 2-year period follow-up study aimed to assess the changes in these variables of same subjects. Methods: The study population comprised 532 non-patient adult subjects sampled from the Korean Genome Epidemiology Study. The subjects underwent a medical examination at a hospital in 2012/2013 and revisited the same hospital in 2014/2015 to have the same examination for the characteristics of mobile phone use performed. In addition, to evaluate the effects on health, the Headache Impact Test-6 (HIT-6), Psychosocial Well-being Index-Short Form, Beck Depression Inventory, Korean-Instrumental Activities of Daily Living, Perceived Stress Scale, Pittsburgh Sleep Quality Index, and 12-item Short Form Health Survey were analyzed. For all these tests, the higher the score, the greater the effect on health. Variances between scores in all the indices in the baseline and follow-up surveys were calculated, and correlations of each index were analyzed. Results: The average duration per call and HIT-6 score of the subjects decreased significantly compared with those recorded two years ago. The results showed a slight but significant correlation between call duration changes and HIT-6 score changes for female subjects, but not for males. HIT-6 scores in the follow-up survey significantly decreased compared to those in the baseline survey, but long-time call users (subjects whose call duration was ≥5 minutes in both the baseline and follow-up surveys) had no statistically significant reduction in HIT-6 scores. Conclusions: This study suggests that increased call duration is a greater risk factor for increases in headache than any other type of adverse health effect, and that this effect can be chronic.

A Prospective Population-based Study of Total Nasal Resistance in Korean Subjects

OBJECTIVES: Rhinomanometry is a widely accepted method for objective assessment of nasal patency. However, few studies have reported the values of otherwise healthy population for nasal resistance in East Asians. The purpose of this study was to measure normal total nasal resistance (TNR) values in a large sample of Korean adults and to reveal parameters contributing to TNR values. METHODS: Subjects were enrolled from a cohort of the Korean Genome and Epidemiology Study. They were evaluated by anthropometry, questionnaire, and active anterior rhinomanometry at transnasal pressures of 100 and 150 Pascal (Pa). RESULTS: The study sample consisted of 2,538 healthy subjects (1,298 women and 1,240 men) aged 20 to 80 years. Normal reference TNR values were 0.19+/-0.08 Pa/cm3/second at 100 Pa and 0.22+/-0.09 Pa/cm3/second at 150 Pa. The TNR of women was significantly higher than that of men (P<0.0001). TNR decreased with increasing age in both genders (P<0.05). In women, lower body weight was related to increasing TNR. In men, current smokers had higher TNR than ex-smokers and never smokers. CONCLUSION: The results of the present study provide information regarding the values of otherwise healthy population of TNR and parameters associated with TNR in Korean adults.

Genetic Variants Associated with Calorie and Macronutrient Intake in a Genome-Wide Association Study

There has been no genome-wide association study (GWAS) for macronutrient intake as a quantitative trait. To explore genetic loci associated with total calorie and macronutrient intake, genome-wide association data of autosomal single nucleotide polymorphisms (SNPs) from Korean adults were analyzed. We conducted a GWAS in 3,690 men and women aged 40 to 60 years from an urban population-based cohort. At the baseline examination (June 18, 2001 through January 29, 2003), DNA samples of the study subjects were collected and analyzed for genotyping. The information of average daily consumption of total calorie, carbohydrate, protein, and fat was obtained from a semi-quantitative food frequency questionnaire and transformed by natural logarithm for analyses after adjustment of calorie intake. Using multivariate linear regression analysis adjusted for age, sex, and height, we tested for 352,021 SNPs and found weak associations, which do not reach genome-wide association significance, with calorie and macronutrient intake. However, a number of SNPs were found to have potential associations with macronutrient intake; in particular, signals in SORBS1 and those in PRKCB1 were likely associated with carbohydrate and fat intake, respectively. We observed an inverse association between the minor allele of the SNPs in these genes and the amount of consumption of carbohydrate or fat. Our GWAS identified loci and minor alleles weakly associated with macronutrient intake. Because SORBS1 and PRKCB1 are reportedly associated with the metabolism of glucose and lipid as well as with obesity-related diseases, further investigations on biological and functional roles of polymorphism of these genes in the relation to macronutrient intake are warranted.

Correlation between Pituitary Insufficiency and Magnetic Resonance Imaging Finding in Non-Functioning Pituitary Adenomas

BACKGROUND: Non-functioning pituitary adenomas (NFPAs) are characterized by the absence of clinical and biochemical evidence of pituitary hormone hypersecretion, and these tumors constitute approximately one third of all the tumors of the anterior pituitary. Recently, hormonal deficiencies have gradually evolved to become the leading presenting signs and symptoms in patients with NFPAs. We investigated pituitary hormonal insufficiencies according to the magnetic resonance imaging (MRI) findings in patients with NFPA. METHODS: We evaluated the patients who were newly diagnosed with NFPA from 1997 through 2009. Among them, we analyzed 387 patients who were tested for their combined pituitary function and who underwent MRI. The severity of the hypopituitarism was determined by the number of deficient axes of the pituitary hormones. On the MRI study, the maximal diameter of the tumor, Hardy's classification, the thickness of the pituitary gland and the presence of stalk compression were evaluated. RESULTS: The mean age was 46.85 +/- 12.93 years (range: 15-86) and 186 patients (48.1%) were male. As assessed on MRI, the tumor diameter was 27.87 +/- 9.93 mm, the thickness of the normal pituitary gland was 1.42 +/- 2.07 mm and stalk compression was observed in 201 patients (51.9%). Hypopituitarism was observed in 333 patients (86.0%). Deficiency for each pituitary hormone was most severe in the patients with Hardy type IIIA. Hypopituitarism was severe in the older age patients (P = 0.001) and the patients with a bigger tumor size (P < 0.001) and the presence of stalk compression (P < 0.001). However, the patients who had a thicker pituitary gland showed less severe hypopituitarism (P < 0.001). Multivariate analysis showed that age, tumor diameter and the thickness of pituitary gland were important determinants for pituitary deficiency (P = 0.004, P < 0.001, P = 0.022, respectively). CONCLUSION: The results suggest that the hormonal deficiencies in patient with NFPA were correlated with the MRI findings, and especially the tumor diameter and preservation of the pituitary gland.

No Association Between Single Nucleotide Polymorphisms in Distal-Less Homeobox-6 (DLX6) and Autism Spectrum Disorders (ASD) from the Korean Male Population

OBJECTIVES: Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by abnormalities of social functioning, communication and behavior. The association of the 7q21-34 region with ASD has been reported. The DLX6 gene, which is located at the 7q22 region, is one of the positional and functional candidate genes for ASD. We found that there is no association between DLX6 polymorphisms and ASD in the Korean male population. METHODS: We selected three single nucleotide polymorphisms (SNPs) that might be implicated in the change of the DLX6 gene expression. The genomic DNA was collected from the venous blood of 147 male controls and 179 male patients with ASD. The genotypes of the selected SNPs were determined using the Illumina GoldenGate assay, and the statistical analyses were performed using HapAnalyzer software and SAS Enterprise. RESULTS: We found no association of the three SNPs in the DLX6 gene with ASD in the Korean male population. CONCLUSION: Our study suggests that the three SNPs in the DLX6 gene are not associated with ASD, and we need to analyze the previously reported regions for their associations with ASD.

Polymorphisms in RAS Guanyl-releasing Protein 3 are Associated with Chronic Liver Disease and Hepatocellular Carcinoma in a Korean Population

RAS guanyl-releasing protein 3 (RasGRP3), a member of the Ras subfamily of GTPases, functions as a guanosine triphosphate (GTP)/guanosine diphosphate (GDP)-regulated switch that cycles between inactive GDP- and active GTP-bound states during signal transduction. Various growth factors enhance hepatocellular carcinoma (HCC) proliferation via activation of the Ras/Raf-1/ extracellular signal-regulated kinase (ERK) pathway, which depends on RasGRP3 activation. We investigated the relationship between polymorphisms in RasGRP3 and progression of hepatitis B virus (HBV)-infected HCC in a Korean population. Nineteen RasGRP3 SNPs were genotyped in 206 patients with chronic liver disease (CLD) and 86 patients with HCC. Our results revealed that the T allele of the rs7597095 SNP and the C allele of the rs7592762 SNP increased susceptibility to HCC (OR=1.55, p=0.04 and OR=1.81~2.61, p=0.01~0.03, respectively). Moreover, patients who possessed the haplotype (ht) 1 ( A-T-C-G) or diplotype (dt) 1 ( ht1/ht1) variations had increased susceptibility to HCC (OR=1.79 ~2.78, p=0.01~0.03). In addition, we identified an association between haplotype1 (ht1) and the age of HCC onset; the age of HCC onset are earlier in ht1 +/+ than ht1 +/- or ht1 -/- (HR=0.42~0.66, p=0.006~0.015). Thus, our data suggest that RasGRP3 SNPs are significantly associated with an increased risk of developing HCC.

Erythropoietin-producing Human Hepatocellular Carcinoma Receptor B1 Polymorphisms are Associated with HBV-infected Chronic Liver Disease and Hepatocellular Carcinoma in a Korean Population

Erythropoietin-producing human hepatocellular carcinoma receptor B1 (EPHB1) is a member of the Eph family of receptor tyrosine kinases that mediate vascular system development. Eph receptor overexpression has been observed in various cancers and is related to the malignant transformation, metastasis, and differentiation of cancers, including hepatocellular carcinoma (HCC). Eph receptors regulate cell migration and attachment to the extracellular matrix by modulating integrin activity. EphrinB1, the ligand of EPHB1, has been shown to regulate HCC carcinogenesis. Here, we sought to determine whether EPHB1 polymorphisms are associated with hepatitis B virus (HBV)-infected liver diseases, including chronic liver disease (CLD) and HCC. We genotyped 26 EPHB1 single nucleotide polymorphisms (SNPs) in 399 Korean CLD, HCC, and LD (CLD+HCC) cases and seroconverted controls (HBV clearance, CLE) using the GoldenGate assay. Two SNPs (rs6793828 and rs11717042) and 1 haplotype that were composed of these SNPs were associated with an increased risk for CLD, HCC, and LD (CLD+HCC) compared with CLE. Haplotypes that could be associated with HBV-infected liver diseases by affecting downstream signaling were located in the Eph tyrosine kinase domain of EPHB1. Therefore, we suggest that EPHB1 SNPs, haplotypes, and diplotypes may be genetic markers for the progression of HBV-associated acute hepatitis to CLD and HCC.

Posttraumatic Anosmia and Ageusia: Incidence and Recovery with Relevance to the Hemorrhage and Fracture on the Frontal Base

OBJECTIVE: We studied whether frontal skull base fracture has an impact on the occurrence and recovery of anosmia and/or ageusia following frontal traumatic brain injury (TBI). METHODS: Between May 2003 and April 2005, 102 consecutive patients who had hemorrhage or contusion on the frontal lobe base were conservatively treated. Relevant clinical and radiographic data were collected, and assessment of impaired smell and taste sensation were also surveyed up to at least 12 months post-injury. RESULTS: Among 102 patients, anosmia was noted in 22 (21.6%), of whom 10 had ageusia at a mean 4.4 days after trauma. Bilateral frontal lobe injuries were noted in 20 of 22 patients with anosmia and in all 10 patients with ageusia. Frontal skull base fracture was noted in 41 patients, of whom 9 (21.4%) had anosmia and 4 (9.5%) had ageusia. There was no statistical difference in the occurrence of anosmia and ageusia between patients with or without fracture. Of the 22 patients with anosmia, recovery from anosmia occurred in nine (40.9%) at the interval of 6 to 24 months after trauma, of whom six had frontal skull base fracture and three were not associated with fracture. Recovery of anosmia was significantly higher in patients without fracture than those with fracture (p<0.05). Recovery from ageusia occurred in only two of 10 patients at the interval of 18 to 20 months after trauma and was not eminent in patients without fracture. CONCLUSION: One should be alert and seek possibile occurrence of the anosmia and/or ageusia following frontal TBI. It is suggested that recovery is quite less likely if such patients have fractures on the frontal base, and these patients should wait for at least 6 to 18 months to anticipate such recovery if there is no injury to the central olfactory structures.

Subsidence of Cylindrical Cage (AMSLUTM Cage): Postoperative 1 Year Follow-up of the Cervical Anterior Interbody Fusion

OBJECTIVE: There are numerous reports on the primary stabilizing effects of the different cervical cages for cervical radiculopathy. But, little is known about the subsidence which may be clinical problem postoperatively. The goal of this study is to evaluate subsidence of cage and investigate the correlation between radiologic subsidence and clinical outcome. METHODS: To assess possible subsidence, the authors investigated clinical and radiological results of the onehundred patients who underwent anterior cervical fusion by using AMSLUTM cage during the period between January 2003 and June 2005. Preoperative and postoperative lateral radiographs were measured for height of intervertebral disc space where cages were placed. Intervertebral disc space was measured by dividing the sum of anterior, posterior, and midpoint interbody distance by 3. Follow-up time was 6 to 12 months. Subsidence was defined as any change in at least one of our parameters of at least 3 mm. RESULTS: Subsidence was found in 22 patients (22%). The mean value of subsidence was 2.21 mm, and mean subsidence rate was 22%. There were no cases of the clinical status deterioration during the follow-up period. No posterior or anterior migration was observed. CONCLUSION: The phenomenon of subsidence is seen in substantial number of patients. Nevertheless, clinical and radiological results of the surgery were favorable. An excessive subsidence may result in hardware failure. Endplate preservation may enables us to control subsidence and reduce the number of complications.

Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population

Most common diseases are caused by multiple genetic and environmental factors. Among the genetic factors, single nucleotide polymorphisms (SNPs) are common DNA sequence variations in individuals and can serve as important genetic markers. Recently, investigations of gene-based and whole genome-based SNPs have been applied to association studies for marker discovery. However, SNPs are so population-specific that the association needs to be verified. Fifty-five genes and 384 SNPs were selected based on association with disease. Genotypes of 337 SNPs in candidate genes were determined using Illumina Sentrix Array Matrix (SAM) chips by an allelespecific extension method in 364 unrelated Korean individuals. Allelic frequencies of SNPs were compared with those of other populations obtained from the International HapMap database. Minor allele frequencies, linkage disequilibrium blocks, tagSNPs, and haplotypes of functional candidate SNPs in 55 genetic disease-associated genes were provided. Our data may provide useful information for the selection of genetic markers for genebased genetic disease-association studies of the Korean population.

Aneurysmal Subarachnoid Hemorrhage Associated with Achondroplasia: Case Report / 대한뇌혈관외과학회지

Patients with achondroplasia manifest various neurologic symptoms including megaencephaly, hydrocephalus, and progressive myelopathy or radiculopathy secondary to spinal stenosis. However, only anecdotal postmortem reports proved ruptured aneurysm or vascular malformation as a source of intracranial hemorrhage. We herein report a case of a 26-year-old woman with achondroplasia who underwent uneventful surgical treatment for the aneurysmal subarachnoid hemorrhage. In this literature, we review the pathophysiologic mechanism and emphasize the necessity of considering the possibility of sudden mental deterioration in achondroplastic patient.

Comparison of Protein Expression in Normal Myometrium and Uterine Leiomyoma Using Two-Dimensional Gel Electrophoresis in Korean Women / 대한산부인과학회잡지

OBJECTIVE: Comparison of protein expression by two-dimensional gel electrophoresis (2-DE) in normal myometrium and uterine leiomyoma in Korean women. METHODS: Normal myometrium and uterine leiomyoma tissues were solubilized with 2-DE buffer and the first dimension of PROTEAN IEF CELL, isoelectric focusing (IEF), was performed using pH4-8 linear IPG strips of 17 cm. And then running 12% sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS- PAGE) and sliver stain. Scanned image analyzed using PDQuest 2-D softwareTM. Protein spot spectrum was identified by assisted laser desorption/ionization-time of fighting (MALDI-TOF) and the protein mass spectrums identification were performed by searching protein databases of Swiss-prot/TrEMBL, Mascot and MS-FIT. RESULTS: In this study, we found 17 up-regulated proteins (phosphate carrier protein, 60 kDa heat shock protein, acidic calcium-independent, glutathione transferase omega, chloride intracellular channel 4, Ras-related protein Rab-11B, phosphatidylinositol transfer protein alpha isoform, type II keratin subunit protein, Cofilin 2 isoform 1, transgelin, ATP carrier protein, alpha-catenin homolog, parkinson disease 2, apo-cellular retinoic acid binding protein II, osteoglycin preproprotein, proteasome activator subunit 1 isoform, Unnamed protein) and 7 down-regulated proteins (Serum amyloid P component, annexin IV, alpha 1 actin precursor, hypoxanthine-guanine phosphoribosyltransferase, tumor necrosis factor receptor superfamily member EDAR precursor, peroxiredoxin 2, translation elongation factor EF-Tu precursor) between myometrium and leiomyoma. CONCLUSION: 2-DE offer total protein expression between normal myometrium and uterine leiomyoma, and searching of differently expressed protein for the diagnostic markers of leiomyoma.

Atlantoaxial Subluxation due to Psoriatic Arthritis

Atlantoaxial subluxation causing spinal cord compression at the craniovertebral junction may develop in patients with rheumatoid or psoriatic arthritis. There have been only a few reports of atlantoaxial subluxation in patients with psoriatic arthritis in the world. The authors report a case of psoriatic arthritis with atlantoaxial subluxation accompaning periodontoid pannus formation. This 53-year-old man with a 3-year history of psoriatic skin lesion presented with nuchal pain and myelopathy. We performed decompression by C1 total laminectomy with transarticular screw fixation and obtained remarkable improvement in motor function and immediate postoperative stability.

Efficacy of Calcium Sulfate Pellets as Bone Graft Substitute in Lumbar Posterolateral Fusion

OBJECTIVE: The authors investigated the efficacy of the calcium sulfate(OsteoSet(r) pellets) as an autograft extender when used to perform posterolateral lumbar fusions. PATIENTS AND METHODS: Twenty patients who underwent lumbar posterolateral arthrodesis for various spinal diseases between October 1999 and March 2000 were evaluated. Arthrodesis was performed by transpedicular screw fixation and bone grafting with a mixture of autograft + calcium sulfate in a 1:1 ratio. At time intervals of 1, 2, 3, and 6 months, postoperative radiographs were obtained to review the resorption of calcium sulfate and the evidence of fusion. A modified Lenke scale was used to assess the status of the fusion. RESULTS: At 2 months after operation, the average modified Lenke scale score for the OsteoSet(r) pellets group was 3.8. However at 6 months after operation, the average modified Lenke scale score for the OsteoSet(r) pellets group was 1.8. Resorption of calcium sulfate pellets was revealed in all cases at 6 months after surgery. CONCLUSION: It is presumed that a combination of calcium sulfate and autograft can play a role as an effective autograft extender in the posterolateral spinal fusion.