Trisomy 12p is an extremely rare disorder, in fact approximately 30 cases have been reported around the world. This disorder results from a malsegregation or non-disjunction of a balanced translocation of t(12;18), thus the offspring inherit such a gene. In this report, the father's chromosomal arrangement was 46, XY, t(12;18)(p12.1;p11.31) and the mother had a normal chromosomal arrangement. We identified a neonate with a short- neck, round face, prominent forehead, long philtrum, low-set ears, imperforated anus and congenital megacolon. We then carried out a chromosomal study and diagnosed the trisomy 12p. If one or both parents are known carriers, it is strongly suggested to perform amniocentesis or chorionic villus sampling for every pregnancy and it is also recommended that potential parents receive genetic counseling before any pregnancy.
Amniocentesis ; Anal Canal ; Chorionic Villi Sampling ; Ear ; Female ; Forehead ; Genes, vif ; Genetic Counseling ; Hirschsprung Disease ; Humans ; Infant, Newborn ; Lip ; Mothers ; Neck ; Parents ; Pregnancy ; Trisomy*

No abstract available.
Rhabdomyolysis*

BACKGROUND: Diabetic patients are known to have unusually high mean intraocular pressure (IOP); attributable to autonomic dysfunction and genetic factors. A recent study reported that diabetic complications occur in not only diabetes but also prediabetes. We performed this study to analyze the relationship between glycated hemoglobin A1c (HbA1c) levels and IOP in non-diabetics using electronic medical records at the health screening center of Soon Chun Hyang University Seoul Hospital.METHODS: We considered 16,643 individuals who visited the health screening center of Soon Chun Hyang University Seoul Hospital between November 2015 and September 2017. In total, 3,029 subjects were included in the study. Exclusion criteria included a history of hypertension, diabetes, stroke, cardiovascular disease, hepatitis (A-C), cancer, other disease, fasting blood glucose of 126 mg/dL or higher, HbA1c of 6.5% or higher, and individuals whose binocular IOP could not be measured. We categorized subjects into two groups; those with HbA1c less than or equal to 5.6%, and those with HbA1c greater than 5.6% and less than 6.5%. The mean IOP of each group was compared by gender.RESULTS: After adjusting for factors affecting IOP, analysis of variance was performed to analyze the relationship between HbA1c and IOP. There was no statistically significant difference between the HbA1c groups in males. However, there was a significant difference in IOP between females in the the higher and lower HbA1c groups.CONCLUSION: There was a statistically significant relationship between mean IOP and HbA1c in females without diabetes. Further research is needed with prospective and extensive data collection.
Blood Glucose ; Data Collection ; Diabetes Complications ; Diabetes Mellitus ; Electronic Health Records ; Fasting ; Female ; Health Promotion ; Hemoglobin A, Glycosylated ; Hepatitis ; Humans ; Hypertension ; Intraocular Pressure ; Male ; Mass Screening ; Myocardial Infarction ; Prediabetic State ; Prospective Studies ; Seoul ; Telescopes

BACKGROUND: Moxifloxacin is a newly developed drug which is more potent and safe compared to previous fluoroquinolones. This drug effectively eradicates organisms such as beta-lactamase-producing or other resistant bacteria. Moxifloxacin is known to be effective in treating respiratory infections such as Streptococcus pneumoniae, Haemophilus influenzae, Moraxella catarrhalis, Chlamydia pneumoniae, Legionella spp. and Mycoplasma pneumoniae. METHODS: In a multicenter, randomized, open, comparative study, the efficacy and safety of oral moxifloxacin taken 400 mg once a day and clarithromycin taken 500 mg twice daily for 7 days were compared for the treatment of Korean patients with acute exacerbations of chronic bronchitis. RESULTS: A total of 170 patients were enrolled, and they were divided into two groups:87 in the moxifloxacin group and 83 in the clarithromycin group. Of those enrolled, 76 (35 for bacteriologic efficacy) in the moxifloxacin group and 77 (31 for bacteriologic efficacy) in the clarithromycin group were included in the efficacy analysis. All were included in the safety analysis. Clinical success was noted in 70 (92.1%) of 76 moxifloxacin-treated patients and 71 (92.2%) of 77 clarithromycin-treated patients. Bacteriologic success rate seemed to be higher in moxifloxacin group (73.5%) than in clarithromycin group (54.8%), but statistically insignificant (p=0.098). Drug susceptibility among organisms initially isolated was higher in moxifloxacin group on Streptococcus pneumoniae, Pseudomonas aeruginosa, Klebsiella pneumoniae(p<0.001). Adverse events were reported by 12.8% of 86 patients receiving moxifloxacin and 21.7% of 83 patients receiveing clarithromycin. Headache (4.7% vs 4.8%, moxiflosacin group vs clarithromycin group, respectively) and indigestion (2.3% vs 6.0%, moxifloxacin group vs clarithromycin group, respectively) were the most frequent side effects in the two groups. CONCLUSION: This study demonstrated that for the treatment of acute exacerbations of chronic bronchitis a 7-days course of moxifloxacin 400 mg od was clinically equivalent and microbiologically superior to clarithromycin 500 mg bid.
Bacteria ; Bronchitis, Chronic* ; Chlamydophila pneumoniae ; Clarithromycin* ; Dyspepsia ; Fluoroquinolones ; Haemophilus influenzae ; Headache ; Humans ; Klebsiella ; Legionella ; Moraxella (Branhamella) catarrhalis ; Mycoplasma pneumoniae ; Pneumonia, Mycoplasma ; Pseudomonas aeruginosa ; Respiratory Tract Infections ; Streptococcus pneumoniae

BACKGROUND: Thoracic actinomycosis is a relatively uncommon anaerobic infection caused by Actinomyces israelii. There have been only a few case reports of endobronchial actinomycosis. The aim of this study was to evaluate the clinical manifestation and treatment of endobronchial actinomycosis. MATERIAL AND METHODS: Seven patients with endobronchial actinomycosis, who were diagnosed in the past 10 years, were retrospectively reviewed. RESULTS: Cough and sputum were the most common symptoms. The chest radiograph and computed tomography showed necrotic consolidation (n=3), atelectasis (n=2), mass (n=1) and an endobronchial nodule (n=1). Proximal broncholithiasis was observed in five patients. All cases were initially suspected to have either lung cancer or tuberculosis. In these patients, the median duration of intravenous antibiotics was 3 days (range 0-12 days) and the median duration of oral antibiotics was 147 days (range 20-412 days). Two patients received oral antibiotic therapy only. There was no clinical evidence of a recurrence. CONCLUSION: Endobronchial actinomycosis frequently manifests as a proximal obstructive calcified endobronchial nodule that is associated with distal post-obstructive pneumonia. The possibility of endobronchial actinomycosis is suggested when findings of broncholithiasis are present at chest CT. The traditional recommendation of 2-6 weeks of intravenous antibiotics and 6-12 months of oral antibiotic therapy are not necessarily essential in all cases of endobronchial actinomycosis.
Actinomyces ; Actinomycosis* ; Anti-Bacterial Agents ; Bronchoscopy ; Cough ; Diagnosis* ; Humans ; Lung Neoplasms ; Pneumonia ; Pulmonary Atelectasis ; Radiography, Thoracic ; Recurrence ; Retrospective Studies ; Sputum ; Tomography, X-Ray Computed ; Tuberculosis