OBJECTIVE: Tardive dyskinesia (TD) is one of the serious side effects caused by long-term treatment with neuroleptic medication. Many investigators are trying to elucidate the pathophysiological mechanism of TD, and some candidate genetic polymorphisms have been reported as associated with TD. This study investigated the association of the 5-HT2A receptor promoter gene polymorphisms with TD in Korean schizophrenic subjects. METHODS: The subjects in this study of 5-HT2A receptor gene polymorphisms were 119 schizophrenia patients, 59 with TD and 60 without. TD was evaluated by using the Abnormal Involuntary Movement Scale (AIMS). Genomic DNA was amplified by PCR and digested with MspI. RESULTS: There were no statistically significant differences in the demographic variables of age, sex ratio, duration of illness and duration of antipsychotic drug exposure between the TD and control groups. 1) A-1438G polymorphisms and TD, By comparing the TD and control groups, the -1438A/G allele was found to be associated with a significantly increased risk for TD (x2=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and A-1438G genotype. There were statistically significant differences in the three AIMS categories (x2=6.835, df=2, p=0.033). CONCLUSION: These results suggest that the -1438A/G genotype of the 5-HT2A receptor gene is related to the development of TD. The -1438A/G genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-HT2A receptor gene is partly associated with susceptibility to TD in patients with chronic schizophrenia.
Alleles ; DNA ; Dyskinesias ; Genotype ; Humans ; Movement Disorders* ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Receptor, Serotonin, 5-HT2A* ; Research Personnel ; Schizophrenia ; Sex Ratio

Autoimmune diseases are occasionally associated with other autoimmune diseases in the same patients. Graves disease has been associated with systemic rheumatic diseases including systemic lupus erythematosus (SLE). The diagnosis of Graves disease in patients with SLE is well known, especially in adults, but few case reports have involved children and adolescents. We report a 14-year-old female who presented with Graves disease, proteinuria, arthralgia, decreased complement, and positive antinuclear antibody and who was diagnosed with SLE. Renal biopsy revealed class IV lupus glomerulonephritis. These clinical, laboratory, and histological findings indicate that class IV lupus nephritis may be associated with Graves disease. This possibility should be borne in mind when following patients with Graves disease in order to avoid any delay in the diagnosis and treatment of serious systemic autoimmune diseases such as SLE.
Adolescent ; Adult ; Antibodies, Antinuclear ; Arthralgia ; Autoimmune Diseases ; Biopsy ; Child ; Complement System Proteins ; Female ; Graves Disease ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Proteinuria ; Rheumatic Diseases

Autoimmune diseases are occasionally associated with other autoimmune diseases in the same patients. Graves disease has been associated with systemic rheumatic diseases including systemic lupus erythematosus (SLE). The diagnosis of Graves disease in patients with SLE is well known, especially in adults, but few case reports have involved children and adolescents. We report a 14-year-old female who presented with Graves disease, proteinuria, arthralgia, decreased complement, and positive antinuclear antibody and who was diagnosed with SLE. Renal biopsy revealed class IV lupus glomerulonephritis. These clinical, laboratory, and histological findings indicate that class IV lupus nephritis may be associated with Graves disease. This possibility should be borne in mind when following patients with Graves disease in order to avoid any delay in the diagnosis and treatment of serious systemic autoimmune diseases such as SLE.
Adolescent ; Adult ; Antibodies, Antinuclear ; Arthralgia ; Autoimmune Diseases ; Biopsy ; Child ; Complement System Proteins ; Female ; Graves Disease ; Humans ; Lupus Erythematosus, Systemic ; Lupus Nephritis ; Proteinuria ; Rheumatic Diseases

PURPOSE: To evaluate the effect of respiration on the sizes of intrathoracic vasculature, and the trachea,and the main bronchus. MATERIALS AND METHODS: Seventeen volunteers (10males aged 20-39 years and 7 females aged20-39 years) underwent spiral CT, between the apex and lowest base of the lung, collimation was 10mm, pitch was 1,and images were obtained at breath hold forced end-inspiration and breath hold forced end-expiration. Crosssecional areas or diameters were measured in each respiration state at the aorta (ascending, descending, lowerthoracic) and great branches, the IVC (thoracic, abdominal), the SVC, pulmonary artery (right main, leftdescending) and the tracheobronchus (trachea, left upper bronchus). Changes in the size of vessels and airwaysbetween the respiration states were evaluated and compared between inspiration and expiration. RESULT: Duringbreath-hold forced end-inspiration CT, the ascending, descending, and lower thoracic aorta and itsbranches(brachiocephalic, left common carotid, left subclavian) as well as the thoracic IVC and SVC and the rightmain and left descending pulmonary arteries decreased in size: during breath-hold forced end-expiration CT, thesize of all these vessels increased. For the trachea, left upper lobe bronchus and abdominal IVC, the situationwas reversed. Statistically significant changes(p<0.05) were noted in the ascending aorta and descending aorta,the lower thoracic aorta, the thoracic and abdominal IVC, the SVC, the right main and left pulmonary arteries, andthe trachea. CONCLUSION: During respiration, changes in the size of the thoracic vasculature and airways isprobably due to changes in intrathoracic pressure. In the measurement and diagnosis of stenosis or dilatation inthe intrathoracic vesculature and airways, respiration states should therefore be considered.
Aorta ; Aorta, Thoracic ; Bronchi* ; Constriction, Pathologic ; Diagnosis ; Dilatation ; Female ; Humans ; Lung ; Pulmonary Artery ; Respiration* ; Tomography, Spiral Computed ; Trachea* ; Volunteers

BACKGROUND: To objectively investigate accommodative response to various refractive stimuli in subjects with normal accommodation. METHODS: This prospective, non-randomized clinical trial included 64 eyes of 32 subjects with a mean spherical equivalent −1.4 diopters (D). We evaluated changes in accommodative power, pupil diameter, astigmatic value, and axis when visual stimuli were applied to binocular, monocular (dominant eye, non-dominant eye, ipsilateral, and contralateral), and pinhole conditions. Visual stimuli were given at 0.25 D (4 m), 2 D (50 cm), 3 D (33 cm), and 4 D (25 cm) and accommodative response was evaluated using open view binocular autorefractor/keratometer. RESULTS: The accommodative response to binocular stimulus was 90.9% of the actual refractive stimulus, while that of the monocular stimulus was 84.6%. The binocular stimulus induced a smaller pupil diameter than did the monocular stimulus. There was no difference in accommodative response between the dominant eye and non-dominant eye or between ipsilateral and contralateral stimuli. As the refractive stimuli became stronger, the absolute astigmatic value increased and the direction of the astigmatism axis became more horizontal. Pinhole glasses required 10%–15% less accommodative power compared with the monocular condition. CONCLUSION: Binocular stimuli enable more precise and effective accommodation than do monocular stimuli. Accommodative response is composed of 90% true accommodation and 10% pseudo-accommodation, and the refractive stimulus in one eye affects the contralateral eye to the same extent. This should be taken into account when developing guidelines for wearing smart glasses while driving, as visual stimulation is applied to only one eye, but far distance attention is constantly needed. TRIAL REGISTRATION: ClinicalTrials.gov Identifier: NCT03557346
Astigmatism ; Eyeglasses ; Glass ; Non-Randomized Controlled Trials as Topic ; Photic Stimulation ; Prospective Studies ; Pupil ; Telescopes*

Purpose: To report a case of solitary fibrous tumor of the orbit in a patient with changes in tumor size and contrast enhancement.Case summary: A 64-year-old male patient presented with dizziness, discomfort on eye movement, anosmia, and proptosis. Orbital computed tomography showed an enhancing mass in the right extraconal space, lateral to the medial rectus and inferior to the superior oblique muscle. The mass appeared to be a cavernous hemangioma and the patient was monitored for changes in mass size and eye movements. After 24 months of follow-up, the mass size and symptoms of right eyelid swelling, proptosis, and diplopia had increased. Excision and biopsy of the mass were performed under general anesthesia. The biopsy confirmed that the mass was a solitary fibrous tumor. The postoperative period was uneventful and no recurrence was observed at 6 months after surgery. Conclusions Solitary fibrous tumor is a soft tissue tumor that rarely occurs in the orbit, and should be considered in cases with an intraorbital mass accompanied by increased size and changes in contrast enhancement on imaging.

PURPOSE: Mycoplasma pneumoniae is a common respiratory pathogen responsible for acute respiratory infections in young children. The standard laboratory methods for the specific diagnosis of M. pneumoniae infection have been isolation in culture and serological methods. The objective of this study was to compare the performance of enzyme-linked immunosorbent assays (ELISA) for the detection of M. pneumoniae specific IgG and IgM antibodies and polymerase chain reaction (PCR) in diagnosis of M. pneumoniae pneumonia. METHODS: For a 1-year period, 111 patients admitted to Severance Hospital and Yongdong Severance Hospital with clinical features of pneumonia and radiographically defined pneumonia were included. Serum specimens and throat swab specimens were obtained at the time of admission. Patients who showed M. pneumoniae antibody titer 1:320 or greater or a fourfold increase in M. pneumoniae antibody titer between acute and convalescent sera obtained 5 days to 3 weeks after the onset of illness were diagnosed as having M. pneumoniae pneumonia. PCR and ELISA were also performed. RESULTS: The sensitivity, specificity, false positivity, and false negativity of PCR were 40.6 percent, 63.3 percent, 69.1 percent, and 27.5 percent, respectively. The sensitivity, specificity, false positivity, and false negativity of ELISA IgM were 9.4 percent, 100 percent, 0 percent, and 26.9 percent, respectively. The sensitivity, specificity, false positivity, and false negativity of the use of PCR and ELISA in combination were 46.9 percent, 63.3 percent, 65.9 percent, and 25.4 percent, respectively. CONCLUSION: These observations suggest that the use of PCR and ELISA in addition to the detection of serum antibody to Mycoplasma pneumoniae using microparticle agglutination would allow the maximal number of diagnoses to be made at a very early phase of infection.
Agglutination ; Antibodies ; Child ; Diagnosis ; Enzyme-Linked Immunosorbent Assay* ; Humans ; Immunoglobulin G ; Immunoglobulin M ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pharynx ; Pneumonia* ; Pneumonia, Mycoplasma* ; Polymerase Chain Reaction* ; Respiratory Tract Infections ; Sensitivity and Specificity

PURPOSE: This is a retrospective descriptive study to determine the incidence of congenital heart disease(CHD) in Jeju and to estimate the suitability of the Jeju population as the subject for a regional birth cohort study. METHODS: All patients with CHD diagnosed by two dimensional echocardiography in Cheju National University Hospital and Halla General Hospital from January 1999 to March 2003 were included in this study. RESULTS: From April 1999 to March 2002, the crude incidence rate was 10.06 per 1,000 live births (236 cases/23,464 live births). Among the 236 cases, the proportion of each type was as follows: Ventricular septal defect(44.9%), atrial septal defect(21.2%), pulmonary stenosis(11.0%), patent ductus arterios us(9.3%), tetralogy of Fallot(3.4%), transposition of great arteries(2.1%), aortic stenosis(1.3%), hypoplastic left heart syndrome(1.3%), coarctation of aorta(0.8%), total anormalous pulmonary venous return(0.8%), tricuspid atresia(0.8%), heterotaxia(0.4%), single ventricle(0.4%), atrioventricular septal defect(0.4%), Ebstein anomaly(0.4%). The male to female ratio was 1:1.380(P=0.011). For unknown reasons, females showed significantly higher incidence in VSD(P=0.005) and PDA(P=0.019). Mortality rate was 0.34 per 1,000 live births. The types of VSD were 72.1% of perimembranous, 16.4% of trabecular muscular, 5.7% of subarterial, and 5.7% of unknown. CONCLUSION: This is the first regional study on the incidence of CHD in Korea. The incidence of CHD in Jeju was 10.06 per 1,000 live births. Most of our cases were VSDs and ASDs. Jeju would be a good subject for a regional cohort study in the future.
Cohort Studies ; Echocardiography ; Female ; Heart ; Heart Defects, Congenital* ; Hospitals, General ; Humans ; Incidence* ; Jeju-do ; Korea ; Live Birth ; Male ; Mortality ; Parturition ; Retrospective Studies

PURPOSE: Most paraquat poisonings are easily diagnosed by history taking on physical examination, however, some are failed to be diagnosed initially if the poisoning was veiled. The purpose of this study was to explore the clinical characteristics of veiled paraquat poisoning. METHODS: We retrospectively reviewed the medical records of patients whose discharge diagnosis was paraquat poisoning in one university teaching hospital between 1 Jan, 2001 and 31 Dec, 2010. Veiled paraquat poisoning was determined when there was a positive urine paraquat kit in patients who did not mention paraquat poisoning in an initial physical examination or had unknown cause of pulmonary fibrosis, acute renal failure, or multi-organ failure. RESULTS: Of the 117 patients with paraquat poisoning during the study period, 6 patients (5.1%) had veiled paraquat poisoning. The clinical characteristics were 1) proteinuria - 6 (100%), 2) increased creatinine - 4 (66.7%), 3) green skin stains - 2 (33.3%), 4) mucosal ulcer - 3 (50%). Blood chemistry results were variable. CONCLUSION: We should suspect veiled paraquat poisoning for patients who have proteinuria, increased creatinine, green skin stain, mucosal ulcer and vomiting, or if they have rapidly progressing acute renal failure or multi-organ failure with unknown cause, even if patients didn't mention about paraquat poisoning upon the initial physical examination. In cases with the above clinical conditions, a thorough repeated physical examination including history taking and use of urine paraquat kits should be performed.
Acute Kidney Injury ; Coloring Agents ; Creatinine ; Hospitals, Teaching ; Humans ; Medical Records ; Paraquat ; Physical Examination ; Proteinuria ; Pulmonary Fibrosis ; Retrospective Studies ; Skin ; Ulcer ; Vomiting

OBJECTIVE: Some candidate gene polymorphisms were reported to be associated with tardive dyskinesia (TD). The aim of this study was to investigate the association of the 5-HT2A receptor gene polymorphisms with TD in Korean schizophrenic subjects. METHOD: Subjects were of 59 schizophrenic patients with TD and 60 schizophrenic patients without TD for studying of 5-HT2A receptor gene polymorphisms. TD was evaluated using the Abnormal Involuntary Movement Scale(AIMS). Genomic DNA was amplified by PCR and digestion with MspI and BsmI. RESULT: There were no statistically significant differences in the demographic variables, such as age, male to female percentage, duration of illnesses and duration of antipsychotic drug exposure between the TD group and control group. 1) T102C polymorphisms and TD Comparing the TD group and control group, the 102T/C allele was associated with a significantly increased risk for TD (chi2=5.560, df=1, p=0.018). 2) Three AIMS categories of TD and T102C genotype. There were statistically significant differences in the three AIMS categories(chi2=6.835, df=2, p=0.033). CONCLUSION: These result suggest 102T/C genotypes of the 5-HT2A receptor gene are related to the development of TD. The 102T/C genotypes were associated with significantly higher AIMS orofacial dyskinesia scores. These findings suggest that the 5-HT2A receptor gene is significantly associated with susceptibility to TD in patients with chronic schizophrenia.
Alleles ; Digestion ; DNA ; Dyskinesias ; Female ; Genotype ; Humans ; Male ; Movement Disorders* ; Polymerase Chain Reaction ; Receptor, Serotonin, 5-HT2A* ; Schizophrenia