Human mitochondrial DNA (mtDNA) is generally used to identify highly degraded forensic samples, particularly when the extracted DNA is not sufficient for nuclear DNA analysis. However, direct sequencing, the most widely used mtDNA analysis method, is laborious and time-consuming, and precludes the simultaneous analysis of many samples. Here, we describe a rapid and simple screening method for mtDNA analysis in Koreans using single base extension (SBE) methods. Sixteen highly polymorphic mtDNA SNPs from the control region were selected, and a multiplex SBE system was constructed to analyze them. Because the developed system consists of two duplex PCRs, which produce small amplicons with fewer than 270 bp, it works well with highly degraded samples such as old skeletal remains. Using this multiplex SBE system, 145 different haplotypes were expected to be observed from 593 unrelated Koreans. Seventy-three haplotypes were expected to be observed only once, and the most frequent haplotype was expected to occur 80 times. Since the mean number of pairwise differences was estimated to be 4.55, the developed system could be useful to exclude samples that do not match evidence and reference samples. Therefore, the multiplex SBE system used in this study will be a useful tool to analyze many samples simultaneously and to efficiently screen out non-matching mtDNA sequences in forensic casework.
Asian Continental Ancestry Group ; DNA ; DNA, Mitochondrial* ; Haplotypes ; Humans ; Mass Screening* ; Methods ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide*

Interferons(IFNs) exhibit an antiproliferative effect on many normal and transformed cells and have in vivo antitumor activity in a variety of cancers. Recent clinical studies have suggested major activity with IFNs, especially in advanced squamous cell carcinoma of the skin and cervix. With the objective of exploring how the IFNs might work in squamous carcinoma cell line, we studied the effect of IFN-a on cervical cancer cell lines. The effect of IFNs on apoptosis and cell cycle of cervical cancer cell lines(C33A, CaSki, SiHa, HeLa, ME-180) was analysed by flow cytometry in time dependent manner. Results were as follows: (1) According to cell count of studied cancer cell lines treated with 2,000 IU/ml IFN-a for 7 days exposure, IFN-a had the antiproliferative effect on all five tested cervical cancer cell lines. Also this antiproliferative effect was confirmed by WST-1 assay. (2) The effect of IFN-a on apoptosis of each cultute was analysed by flow cytometry after 3 days and 7 days exposure with 2,000 IU/ml IFN-a, Apoptosis was not induced by IFN-a treatment. (3) The effect of IFN-a on the cell cycle of each culture was analysed by flow cytometry after 3 days exposure with 2,000 IU/ml IFN-a. As compared to control cells, treatment with IFN-a resulted in a higher proportion of cells in S phase with lower portion of cells with G2/M phase. (4) Time course of IFN-a effect on HPV 16 and HPV 18 E6 mRNA levels was evaluated by northern blot analysis. In CaSki cell line, HPV 16 E6 mRNA expression induced by IFN-a was not inhibited. But in HeLa cell line, HPV 18 E6 inRNA expression was inhibited. IFN-a appears to have the antiproliferative effect on all five tested cervical cancer cell lines and the antiproliferative effect of IFN-a seemed to be induced not by apoptosis but by disruption on specific cell cycle. Also regulation of HPV E6 mRNA expression induced by IFN-a is not directly related to the mechanisms of the antiproliferative effect of IFN-a in cancer cell lines.
Apoptosis ; Blotting, Northern ; Carcinoma, Squamous Cell ; Cell Count ; Cell Cycle ; Cell Line* ; Cervix Uteri ; Female ; Flow Cytometry ; HeLa Cells ; Human papillomavirus 16 ; Human papillomavirus 18 ; Humans ; RNA, Messenger ; S Phase ; Skin ; Uterine Cervical Neoplasms*

The variations of the occipital sinus were studied in 50 Korean adult cadavers. The morphology of the sinus was classified into 5 types accordingo to its number and the connection with the marginal sinus. These results were compared with the data of the occipital sinus of bones (Sir and Chung, 1907). And the opening of the occipital sinus in the confluens sinuum was observed. 1. A single small occipital sinus was found in 40%. Single occiital sinus with two large marginal sinuses was observed in 8%. The single sinus with a left marginal sinus (6%) and with a right marginal sinus(4%) were present. Double occipital sinuses were observed in 10% of the cadavers. No occipital sinus was discernible in 32%. 2. There were 39 openings of the occipital sinus including the double sinuses. The occipital sinuses communicated with the confluence sinuum in 35 cases (89.7%), with the straight sinus in 5.1% and with the right or left transverse sinus in 1 case, respectively. The openings in the confluens sinuum were found on the left side(51.3%), on the right side (10.3%) and in the center(28.2%). 3. The diameters of the occipital sinus were variable according to the connection with the sigmoid sinus. 4. The difference was found between the data of the morphological types of the occipital sinus that were studied in cadavers and in dry bones.
Adult* ; Cadaver ; Colon, Sigmoid ; Humans

Purpose: The prevalence of nonalcoholic steatohepatitis (NASH) is increasing with the increasing prevalence of childhood obesity. Although NASH has a high risk of progression to liver fibrosis and cirrhosis, few studies have reported noninvasive markers for predicting hepatic fibrosis in children. This study aimed to evaluate and compare the diagnostic accuracies of serologic biomarkers and scoring systems for hepatic fibrosis in obese children with NASH. Methods: A total of 96 children were diagnosed with NASH based on liver biopsy findings and divided into two groups according to the degree of liver fibrosis: mild (stage 0–1) or advanced (stage 2–4). Clinical and laboratory parameters and serum levels of hyaluronic acid and type IV collagen were measured. The aspartate aminotransferase/platelet ratio index (APRI) and fibrosis-4 (FIB-4) score were calculated. Results: Among the noninvasive markers, only serum type IV collagen level and FIB-4 were significantly different between the two groups. The area under the receiver operating curve of each biomarker and scoring system was 0.80 (95% confidence interval [CI]: 0.70–0.90) for type IV collagen at an optimal cutoff of 148 ng/mL (sensitivity 69.8%, specificity 84.6%), followed by 0.69 (95% CI: 0.57–0.83) for APRI, 0.68 (95% CI: 0.56–0.80) for FIB-4, and 0.65 (95% CI: 0.53-0.77) for hyaluronic acid. Conclusion Type IV collagen as a single noninvasive serologic biomarker for hepatic fibrosis and FIB-4 as a hepatic fibrosis score are beneficial in predicting advanced hepatic fibrosis and determining proper diagnosis and treatment strategies before fibrosis progresses in obese children with NASH.

Strabismus fixus is very rare and the convergent form is rarely accompanied by blepharoptosis. We successfully treated one patient with high myopia whose convergent strabismus fixus, accompanied by blepharoptosis, became severe after cataract surgery. We report the case with a discussion of its pathology. We performed levator advancement operation, bilateral lateral rectus 11 mm resection, and bilateral medial rectus 8 mm recession. The suture was removed after maintaining temporary traction suture for 6 days. Blepharoptosis was completely corrected by postoperative 2 months. Esodeviation was 15PD, which was not increased compared with immediately after surgery. Satisfactory cosmetic outcome was obtained.
Aged ; Blepharoptosis/complications/*surgery ; Female ; Humans ; Myopia/complications ; Oculomotor Muscles/*surgery ; Ophthalmologic Surgical Procedures/methods ; Strabismus/complications/*surgery ; Treatment Outcome

OBJECTIVES: The purpose of this study is to investigate the characteristics of drinking patterns and the prevalence of hazardous drinking and alcohol use disorder with the assessment of alcohol policy needs in community population of urban city in Korea. METHODS: Data was collected from 1,000 residents in a single urban city in Korea, from June 1 to July 31, 2011 by a questionnaire. As research tools, socio-demographic characteristics composed of variables based on study purpose, alcohol problems and alcohol use disorder state scales composed with Alcohol Use Disorder Identification Test(AUDIT) and Cut down, Annoyed, Guilty, Eye-opener(CAGE), and the assessment of alcohol policy needs in community population questions were used. RESULTS: The lifetime experience of alcohol drinking was 97.4%. For the frequency of drinking, 21.9% of population responded 2 to 4 times per weekly. 24.4% of male had one time or more high risk drinking, defined as having four or more drinks in a sitting, per week. 51.6% experienced the first time drinking of alcohol in adolescence. The lifetime prevalence of hazardous drinking and alcohol use disorder were 14.9% and 3.3%, respectively using AUDIT. Alcohol use disorder were 9.6% with the CAGE scale. Problem drinking were 8.4% in this study. They requested the program such as prevention education(57.2%), construction of liaison system to treatment facilities( 50.1%), alcohol counseling and intervention(41.7%), and rehabilitation program(39.8%). CONCLUSIONS: These results demonstrate that alcohol problem and alcohol use disorder were much prevalent, and these problem started in the earlier age. It is necessary to develop an effective alcohol prevention program or policy with considering the needs in community population.
Adolescent ; Alcohol Drinking ; Counseling ; Drinking ; Humans ; Korea ; Male ; Prevalence ; Questionnaires ; Weights and Measures

We evaluated the effect of antiandrogens on both fetal and adult rats, noting especially the morphological changes in the gubernaculum and testicular descent. Two antiandrogens, flutamide and 5a-reductase inhibitor 4-methyl-4-aza-5-pregnane-3-one-20[s] carboxylate (4-MAPC) produce gross and histological changes in the gubernaculum, as well as having an effect on testicular descent. While the gubernacula of controls were like full water-drop at day 20 of gestation. the gubernacula of fetuses treated with flutamide were thin and elliptical and the gubernacula of fetuses treated with 4-MAPC were thin and elliptical or like small water-drop. The position of the gubernaculum was near the bladder neck and lower border of pelvic cavity, regardless of the antiandrogen treatment. But, the degree of invagination of gubernaculum into abdominal wall tended to be less in fetuses treated with either antiandrogen. The muscular layer of gubernaculum treated with either anti-androgen tended to be thinner than controls. In adult rats treated from embryo to adult with flutamide, atrophy of the sex accessory glands and hypospadias were occurred and the scrotums were bifid or undeveloped on one side which the testis remained in the abdomen. We feel that flutamide and 4-MAPC cannot interfere with trans-abdominal testicular descent, but can induce the morphological changes in gubernaculum with failure of the trans-inguinal testicular descent. Also, it would be suggested that the gubernaculum has not Wolffian duct like testosterone dependency shown in differentiation of epididymis, vas deferens and seminal vesicle, because of the presence of the effect of both flutamide and 4-MAPC on gubernaculum.
Abdomen ; Abdominal Wall ; Adult ; Androgen Antagonists* ; Animals ; Atrophy ; Embryonic Structures ; Epididymis ; Female ; Fetus ; Flutamide ; Humans ; Hypospadias ; Male ; Neck ; Pregnancy ; Rats* ; Scrotum ; Seminal Vesicles ; Testis ; Testosterone ; Urinary Bladder ; Vas Deferens ; Wolffian Ducts

Background/Aims: This study aim to evaluate the relationship between the Hill grade confirmed by esophagogastroduodenoscopy (EGD) and the degree of gastroesophageal reflux (GER) by 24-hour multichannel intraluminal impedance-pH monitoring (MII-pH) in children suspected of having gastroesophageal reflux disease (GERD). Methods: A retrospective review of 105 children and adolescents who underwent EGD and MII-pH for the evaluation of GERD from March 2013 to July 2019 was performed. Clinical features and results of EGD and 24-hour MII-pH were collected and statistically analyzed. Results: Hill grades 1, 2, 3, and 4 were identified using EGD in 56 (53.3%), 22 (22.0%), 16 (15.2%), and 11 (10.5%) patients, respectively. As the Hill grade increased, the proportion of neurological diseases (P < 0.001) and endoscopic erosive esophagitis (P < 0.001) increased significantly. The acid exposure index, bolus exposure index, number of reflux episodes, and number of GER reaching proximal extent on MII-pH increased significantly as the endoscopic Hill grade increased (all P < 0.001). Linear regression analysis revealed an increase in the Hill grade by 1 increased the acid exposure index by 2.0%, bolus exposure index by 0.7%, number of reflux episodes by 18.9 episodes, and the number of GER reaching the proximal esophagus increased by 10.5 episodes on average (all P < 0.001). Conclusions Hill grade on EGD was associated with GER in children. Estimating the degree of GER by applying Hill grade in the retroflexion view may be useful in practice when evaluating children suspected with GERD.

Background/Aims: This study aim to evaluate the relationship between the Hill grade confirmed by esophagogastroduodenoscopy (EGD) and the degree of gastroesophageal reflux (GER) by 24-hour multichannel intraluminal impedance-pH monitoring (MII-pH) in children suspected of having gastroesophageal reflux disease (GERD). Methods: A retrospective review of 105 children and adolescents who underwent EGD and MII-pH for the evaluation of GERD from March 2013 to July 2019 was performed. Clinical features and results of EGD and 24-hour MII-pH were collected and statistically analyzed. Results: Hill grades 1, 2, 3, and 4 were identified using EGD in 56 (53.3%), 22 (22.0%), 16 (15.2%), and 11 (10.5%) patients, respectively. As the Hill grade increased, the proportion of neurological diseases (P < 0.001) and endoscopic erosive esophagitis (P < 0.001) increased significantly. The acid exposure index, bolus exposure index, number of reflux episodes, and number of GER reaching proximal extent on MII-pH increased significantly as the endoscopic Hill grade increased (all P < 0.001). Linear regression analysis revealed an increase in the Hill grade by 1 increased the acid exposure index by 2.0%, bolus exposure index by 0.7%, number of reflux episodes by 18.9 episodes, and the number of GER reaching the proximal esophagus increased by 10.5 episodes on average (all P < 0.001). Conclusions Hill grade on EGD was associated with GER in children. Estimating the degree of GER by applying Hill grade in the retroflexion view may be useful in practice when evaluating children suspected with GERD.

Two of the synaptic receptors involved in the regulation of micturition, P2X(3) receptor, which is operated by ATP, and vanilloid receptor 1 (VR1), which is operated by capsaicin, are regarded as newcomers. To investigate the possibility that these receptors act as therapeutic targets for treatment of an overactive bladder, we investigated their distribution and reciprocal relationship. Eight-week-old Sprague Dawley rats were injected with retrograde nerve tracer within the bladder wall, and 15 rats were injected with 0.5% acetic acid inside the bladder. After a week, the animals were killed, and their dorsal root ganglia (DRG) at the levels of L6 and S1 were harvested. Immunohistochemistry or Western blot analysis of P2X(3) and VR1 were performed on the DRG. The DRG neurons with afferent fibers from the bladder had increased expression of VR1 and downregulated P2X(3) receptors. The P2X(3) receptor and VR1 seemed to account for the important parts of the hypersensitivity of the inflammatory bladder. We conclude that the simultaneous modulations of both P2X(3) receptor and VR1 may have a synergic effect on the treatment of overactive bladder and may produce greater response rates.
Acetic Acid ; Adenosine Triphosphate ; Animals ; Blotting, Western ; Capsaicin ; Diagnosis-Related Groups ; Ganglia, Spinal ; Hypersensitivity ; Immunohistochemistry ; Neurons ; Rats ; Rats, Sprague-Dawley ; Receptors, Neurotransmitter ; Urinary Bladder ; Urinary Bladder, Overactive ; Urination