Chromosome 18p deletion syndrome is one of the most frequent autosomal abnormalities with more than 150 reported cases in the world and 7 reported cases in South Korea. Frequent clinical features of 18p deletion syndrome include intellectual disability, growth retardation, and dysmorphic features including ptosis. To the best of our knowledge, sensorineural hearing loss has not been reported in the 18p deletion syndrome until now. A case with sensorineural hearing impairment associated with hypoplasia of bilateral cochlear nerves is presented in this paper. The sensorineural hearing impairment seen in this case could be related with deleted gene(s) located in the short arm of chromosome 18 or be an independent feature unrelated with 18p deletion. Further case reports are required in order to better define the relation between sensorineural hearing loss and the 18p deletion syndrome.
Arm ; Chromosome Deletion ; Chromosome Disorders ; Chromosomes, Human, Pair 18 ; Cochlear Nerve ; Hearing Loss ; Hearing Loss, Sensorineural ; Intellectual Disability ; Republic of Korea

This study aimed to investigate the relationship between meal regularity (i.e. breakfast intake and meal-times), and the risk of metabolic syndrome (MetS) among generally healthy Korean single-person household adults (≤60 years, n=594) based on the Seventh Korean National Health Examination and Nutrition Survey (KNHANES) (2016∼2018).Among men (n=325), the breakfast intake frequency was not significantly associated with the pervalence of MetS. However, men consuming a regular meal at least once a day showed a lower prevalence of MetS compared to those whose meals were irregular. These patterns remained after adjusting for age, smoking and drinking habits, individual income, education level, exercise, and total calorie intake. An association between meal regularity and MetS risk was observed in post-menopausal women (n=84), but not in pre-menopausal women (n=185). More specifically post-menopausal women with irregular breakfast eating habits or eating no breakfast at all showed a significantly higher risk of MetS than those eating breakfast regularly after the adjustment. The analysis revealed an odds ratio (OR) of 8.46, confidence intervals (CIs): 1.149∼62.199, P＜0.05 in irregular breakfast eaters, and an OR of 13.377, CIs: 1.665∼ 107.511, P＜0.05, in those who ate no breakfast. Furthermore, post-menopausal women who had irregular meals daily showed a higher risk of MetS than those consuming one or more regular meals/day after the adjustment (OR:16.888, CIs: 1.258∼226.655, P＜0.05). In conclusion, the results from this study may be used for formulating optimal dietary guidelines for the prevention and the management of MetS in adults in single-person households.

Severe protein-calorie malnutrition, common in patients with advanced liver disease, can seriously undermine the capacity for regeneration and functional restoration of liver. Nutritional supplementation for these patients can improve biochemical and hormonal abnormalities. However, these effects were not identified in patient with nonalcoholic liver cirrhosis. To determine effects of nutritional supplementation in patients with nonalcoholic liver cirrhosis, 77 subjects aged 29 to 69 years participated in this study for 12 weeks and were subdivided into three groups; normal diet group (Control group, n=16), branched-chain amino acid supplementation group (BCAA group, n=31), nutritional supplementation group (NS group, n=30). Anthropometric parameters, hemoglobin, hematocrit, blood cell counts, serum levels of lipids, vitamins, minerals and fatty acid composition, and plasma amino acids were examined. The mean values of age and height, and the initial values of weight and body mass index (BMI) were not different among all groups. After 12 weeks, there were no significant changes in these values in Control group. Only NS group showed significant increases in weight, lean body mass, midarm circumference, triceps skinfold thickness. Serum transferrins were increased both in BCAA and NS groups. Plasma levels of branched-chain amino acids, urea amino acids and glutamic acid were also significantly increased in these groups, but plasma levels of ammonia, serum LDL cholesterol and atherogenic index were decreased. However, there were no significant changes in serum levels of vitamin and mineral and composition of fatty acids in phospholipids in these groups. These results showed that the nutritional supplementation for patients with nonalcoholic liver cirrhosis can more improve nutritional status in these people together with increases of weight, body fat and lean body mass, compared to only BCAA supplementation. To ascertain and investigate the appropriate nutritional supplementation for patients with nonalcoholic liver cirrhosis, further studies are necessary.
Amino Acids ; Amino Acids, Branched-Chain ; Ammonia ; Blood Cell Count ; Body Mass Index ; Body Weight ; Cholesterol, LDL ; Diet ; Fatty Acids ; Glutamic Acid ; Hematocrit ; Humans ; Liver Cirrhosis* ; Liver Diseases ; Liver* ; Minerals ; Nutritional Status ; Phospholipids ; Plasma ; Protein-Energy Malnutrition ; Regeneration ; Skinfold Thickness ; Transferrin ; Transferrins ; Urea ; Vitamins

BACKGROUND/OBJECTIVES: This study aimed to test the association between APOA5 3'-UTR variants (rs662799) and cardiometabolic traits in Koreans. SUBJECTS/METHODS: For this study, epidemiological data, Apolipoprotein A5 (APOA5) genotype information, and lymphoblastoid cell line (LCL) biospecimens from a subset of the Ansung-Ansan cohort within the Korean Genome and Epidemiology study (KoGES-ASAS; n = 7,704) as well as epidemiological data along with genomic DNA biospecimens of participants from a subset of the Korea National Health and Nutrition Examination Survey (KNHANES 2011-12; n = 2,235) were obtained. APOA5 mRNA expression was also measured. RESULTS: APOA5 rs662799 genotype distributions in both the KoGES-ASAS and KNHANES groups were 50.6% for TT, 41.3% for TC, and 8.1% for CC, which are similar to those in previous reports. In both groups, minor C allele carriers, particularly subjects with CC homozygosity, had lower high-density lipoprotein (HDL) cholesterol and higher triglyceride levels than TT homozygotes. Linear regression analysis showed that the minor C allele significantly contributed to reduction of circulating HDL cholesterol levels [β = −2.048, P < 0.001; β = −2.199, P < 0.001] as well as elevation of circulating triglyceride levels [β = 0.053, P < 0.001; β = 0.066, P < 0.001] in both the KoGES-ASAS and KNHANES groups. In addition, higher expression levels of APOA5 in LCLs of 64 healthy individuals were negatively associated with body mass index (r = −0.277, P = 0.027) and circulating triglyceride level (r = −0.340, P = 0.006) but not significantly correlated with circulating HDL cholesterol level. On the other hand, we observed no significant difference in the mRNA level of APOA5 according to APOA5 rs662799 polymorphisms. CONCLUSIONS: The C allele of APOA5 rs662799 was found to be significantly associated with cardiometabolic traits in a large Korean population from the KoGES-ASAS and KNHANES. The effect of this genotype may be associated with post-transcriptional regulation, which deserves further experimental confirmation.
Alleles ; Apolipoproteins ; Asian Continental Ancestry Group ; Body Mass Index ; Cell Line ; Cholesterol ; Cholesterol, HDL ; Cohort Studies ; DNA ; Epidemiologic Studies ; Epidemiology ; Genome ; Genotype ; Hand ; Homozygote ; Humans ; Korea ; Linear Models ; Lipoproteins ; Nutrition Surveys ; RNA, Messenger ; Triglycerides

Objective: This study aimed to investigate the feasibility of ultrafast magnetic resonance imaging (MRI) and radiomic features derived from breast MRI for predicting the upstaging of ductal carcinoma in situ (DCIS) diagnosed using percutaneous needle biopsy. Materials and Methods: Between August 2018 and June 2020, 95 patients with 98 DCIS lesions who underwent preoperative breast MRI, including an ultrafast sequence, and subsequent surgery were included. Four ultrafast MRI parameters were analyzed:time-to-enhancement, maximum slope (MS), area under the curve for 60 s after enhancement, and time-to-peak enhancement.One hundred and seven radiomic features were extracted for the whole tumor on the first post-contrast T1WI and T2WI using PyRadiomics. Clinicopathological characteristics, ultrafast MRI findings, and radiomic features were compared between the pure DCIS and DCIS with invasion groups. Prediction models, incorporating clinicopathological, ultrafast MRI, and radiomic features, were developed. Receiver operating characteristic curve analysis and area under the curve (AUC) were used to evaluate model performance in distinguishing between the two groups using leave-one-out cross-validation. Results: Thirty-six of the 98 lesions (36.7%) were confirmed to have invasive components after surgery. Compared to the pure DCIS group, the DCIS with invasion group had a higher nuclear grade (P < 0.001), larger mean lesion size (P = 0.038), larger mean MS (P = 0.002), and different radiomic-related characteristics, including a more extensive tumor volume; higher maximum gray-level intensity; coarser, more complex, and heterogeneous texture; and a greater concentration of high graylevel intensity. No significant differences in AUCs were found between the model incorporating nuclear grade and lesion size (0.687) and the models integrating additional ultrafast MRI and radiomic features (0.680–0.732). Conclusion High nuclear grade, larger lesion size, larger MS, and multiple radiomic features were associated with DCIS upstaging.However, the addition of MS and radiomic features to the prediction model did not significantly improve the prediction performance.

BACKGROUND: The Korean Red Cross has established three nucleic acid amplification test (NAT) centers, and the organization has begun NAT screening for human immunodeficiency virus type 1 (HIV-1) and hepatitis C virus (HCV) for domestic blood donors commencing from February 2005. As a result, between February 2005 and July 2006, it was found that 80 of a total of 3,481,972 donors that were screened were positive for HIV-1 as determined by the NAT. This report will describe the characteristics of the HIV-1 positive reactive donors. METHODS: We attempted to determine the number of HIV-1 positive reactive donors for each NAT center, and attempted to characterize the donors by gender, age, RNA viral load, and the distribution of HIV-1 subtype. RESULTS: Among the 80 HIV-1 positive reactive donors determined by the NAT, 57.5% of the donors were in their twenties and all but one of the donors was male. Of all of the donors, 82.5% were repeated donors and four donors showed antibody negative window periods. The average quantity of HIV-1 RNA for 78 donors was 1.12x105 copies/mL and for the four donors that showed the antibody negative window periods was 2.68x105 copies/mL. The HIV-1 subtypes of 76 cases were all B of group M. CONCLUSION: NAT screening contributes to the safety of the domestic blood supply. Therefore, it is necessary to continue to study the characteristics of the blood that was found to show HIV positivity by the NAT.
Blood Donors ; Hepacivirus ; HIV* ; HIV-1* ; Humans* ; Male ; Mass Screening* ; Nucleic Acid Amplification Techniques* ; Red Cross ; RNA ; Tissue Donors* ; Viral Load

Infectious disease took the leading cause of death in patients with systemic lupus erythematosus (SLE). Especially Salmonella infection occurs more common in SLE patients. We report a case of thyroid abscess caused by Salmonella Group D in a patient with SLE. A patient, 29-year-old female, with SLE was admitted with a painful swelling of the left neck and diarrhea. The painful swelling of neck was revealed as an abscess of the thyroid and Salmonella Group D was isolated from the aspirated material of the thyroid abscess. The patient recovered after surgical drainage and administration of intravenous 3rd cephalosporin.
Abscess* ; Adult ; Cause of Death ; Communicable Diseases ; Diarrhea ; Drainage ; Female ; Humans ; Lupus Erythematosus, Systemic* ; Neck ; Salmonella Infections ; Salmonella* ; Thyroid Gland*

This study aimed to evaluate the effect of dietary fiber supplementation with snack type on functional constipation. We conducted a double blind case-control study with 3 groups; placebo, low dose group (LD: insoluble fiber 7 g/d + soluble fiber 1.2 g/d) and high dose group (HD: insoluble fiber 14 g/d + soluble fiber 2.4 g/d), which were randomly assigned out of subjects with functional constipation, defined by modified Rome II criteria. We measured anthropometric parameters and evaluated the bowel movement frequency, stool type, straining, sense of complete evacuation, abdominal discomfort/pain, abdominal inflation, relief and colon transit time before, during the supplementation. Both LD and HD groups had significant improvement in straining, sense of complete evacuation and satisfactory relief compared with placebo group (p<0.05). When subdivide by baseline colon transit time (less than 24 hrs/24 hrs or more and less than 72 hrs/72 hrs or more) , only HD group had significantly improvement; colon transit time recovered near by 24 hrs in subjects of 'less than 24 hrs' (from 7.57+/-1.40 hrs to 25.2+/-3.91 hrs, p<0.01) and reduced in those of '24hr or more and less than 72 hr' (from 47.0+/-3.36 hrs to 31.3+/-4.31 hrs, p<0.01) and '72 hr or more' (from 106.7+/-10.7 hrs to 85.0+/-13.1 hrs, p<0.05) subjects. Particularly, positive effect of fiber supplementation on straining and sense of complete evacuation in test groups seemed to be greater in subjects of '24 hrs or less' and '24 hrs or more and less than 72 hrs' than those of '72 hrs or more'. In conclusion, subjects with functional constipation, particularly those having colon transit time less than 72 hrs can significantly improve, at least in part, symptom related to constipation by fiber supplementation of snack type without serious side effects.
Case-Control Studies ; Colon ; Constipation* ; Dietary Fiber ; Inflation, Economic ; Snacks

PURPOSE: The resuscitation room is the hub of intensive care and focused management within the emergency department (ED). For patients with life-threatening conditions, immediate triage and proper treatment using the resuscitation room is important. This study was conducted to assess the epidemiology of patients using the resuscitation room in an emergency department. METHODS:This was a retrospective observational study. Eligible subjects were enrolled through the National Emergency Department Information System from July 2007 to September 2008. All subjects came through a single regional emergency center that logs more than 45,000 patients annually. Pediatric patients less than 15 years of age and those who were dead on arrival at the ED were excluded. The Emergency Severity Index (ESI) version IV was used as a triage tool, and characteristics and ESI levels of patients using or not using resuscitation rooms were compared. RESULTS: The total number of eligible subjects was 40,926 and the male-female ratio was 1:0.92. The numbers of patients using the resuscitation room was 1,050 (2.99%). Patients using the resuscitation room were older than the patients not using the resuscitation room, were more likely to have used an ambulance to visit the ED, and had a higher mortality rate and a higher admission rate. A majority of staff members had the authority to put patients in the resuscitation room. Among them were professors 18.19%, emergency residents 11.43%, certified emergency nurses 40.57%, emergency nurses 19.43%, emergency medical technicians 2.86%, and paramedics 6.19%. Critical care was done in the resuscitation room for cardiopulmonary resuscitation 11.66%, intubation 26.33%, ventilation 1.71%, defibrillation 5.73%, and other 54.57%. The most frequent ESI levels of patients using the resuscitation room was 1 (57.89%); an ESI score of 3 (72.01%) was the most frequent value for patients not using the resuscitation room. CONCLUSION: Patient using the resuscitation room were older, more likely to have used an ambulance, and had a higher mortality rate, admission rate and ESI level.
Allied Health Personnel ; Ambulances ; Cardiopulmonary Resuscitation ; Critical Care ; Emergencies ; Emergency Medical Technicians ; Humans ; Information Systems ; Critical Care ; Intubation ; Porphyrins ; Resuscitation ; Retrospective Studies ; Severity of Illness Index ; Triage ; Ventilation

Ischemic colitis is the most common form of ischemic injury to the gastrointestinal tract and this frequently occurs in the elderly. It manifests with sudden, left lower abdominal pain, diarrhea and hematochezia. Radiologic modalities such as barium enema may be helpful in delineating the degree and location of ischemic colitis, but colonoscopy is the procedure of choice for making the diagnosis. Ischemic colitis generally runs a benign course lasting a few days and it requires only supportive treatment in most cases. Complications of ischemic colitis and recurrence are rare. We report here on a case of colonic stricture that was caused by ischemic colitis, and we include a brief review of the relevant literature.
Abdominal Pain ; Aged ; Barium ; Colitis ; Colitis, Ischemic ; Colon ; Colonoscopy ; Constriction, Pathologic ; Diarrhea ; Enema ; Gastrointestinal Hemorrhage ; Gastrointestinal Tract ; Humans ; Recurrence