No abstract available.

Leri-Weill syndrome or Leri-Weill dyschondrosteosis represents a short stature syndrome that is characterized by symmetric shortening of the forearms and lower legs and a bilateral shortening and bowing of the radius with a dorsal subluxation of the distal ulna(Madelung deformity). Recent genetic analyses demonstrated that functional haploinsufficiency of SHOX(short stature homeobox-containing gene) accounts for Leri-Weill syndrome. Further studies are needed to explain phenotypic heterogeneity of SHOX defect. We experienced a case of Leri-Weill syndrome in a 11-year-old girl with short stature, who revealed typical Madelung deformity, mesomelic(middle segment) dysplasia, and a karyotype of 46,XX. In cases with dyschondrosteosis or Turner-characteristic dysmorphic skeletal features, detection of SHOX mutation is recommended.
Child ; Congenital Abnormalities ; Female ; Forearm ; Haploinsufficiency ; Humans ; Karyotype ; Leg ; Population Characteristics ; Radius

BACKGROUND: Obesity is linked to a wide range of respiratory diseases. Several studies have shown that body weight at baseline and weight change were related to pulmonary function. The purpose of this study was to investigate the relationship between change in body mass index (BMI) and pulmonary function in adults. METHODS: Of those aged 40-64 years at baseline who had initially visited the health promotion center at one university-level hospital from January 2000 to December 2002, 499 (men: 309, women: 190) patients revisited the center over a 5-year period up to December 2009 and were enrolled in the study. Subjects were classified into 4 groups- group 1: normal-normal, group 2: normal-obese, group 3: obese-normal, and group 4: obese-obese, based on their BMI at baseline and follow-up. Forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and FEV1/FVC were measured by spirometry. RESULTS: Change in FEV1/FVC was significantly associated with change in BMI for men in all 4 groups. Change in FEV1/FVC was significantly different between group 1 and 3 and between group 1 and 4. Changes in FEV1, FVC and FEV1/FVC were significantly associated with change in BMI for women in all 4 groups. Change in FEV1 was significantly different between group 3 and 4, and change in FVC was significantly different between group 1 and 3. CONCLUSIONS: These results suggest that a change in BMI is negatively associated with change in pulmonary function. Obesity itself can be a risk factor for pulmonary dysfunction, and a decrease in BMI through weight reduction could reduce pulmonary dysfunction or improve pulmonary function in adults.
Adult ; Aged ; Body Mass Index ; Body Weight ; Female ; Follow-Up Studies ; Forced Expiratory Volume ; Health Promotion ; Humans ; Male ; Obesity ; Risk Factors ; Vital Capacity ; Weight Loss

Purpose: The aim of the study was to investigate risk factors of hearing impairments in preterm infants and analyze factors associated with discrepancies between neonatal hearing screening (NHS) and confirmatory test results. Methods: We analyzed the medical records of 352 preterm infants born at 23 to 32 weeks’ gestational age (GA) who underwent both automated auditory brainstem response (aABR) and confirmatory ABR (cABR). Results: Mean GA, mean birth weight, the incidence of small for GA and cesarean section birth were significantly different between the pass and refer groups on aABR and the normal and abnormal groups of cABR. On univariate analysis, bronchopul monary dysplasia (odds ratio [OR], 2.74; 95% confidence interval [CI], 1.00 to 7.48), intraventricular hemorrhage (OR, 7.02; 95% CI, 1.59 to 31.05), and use of furosemide (OR, 3.84; 95% CI, 1.38 to 10.73) were the factors related to refer results on aABR. Peri ventricular leukomalacia (PVL; OR, 4.00; 95% CI, 1.39 to 11.52) and use of vancomycin (OR, 2.86; 95% CI, 1.22 to 6.73) were associated with abnormal cABR. Twenty-five (7.9%) infants had discrepant aABR and cABR results, particularly males and those in whom vancomycin was used. Conclusion PVL and use of vancomycin were confirmed as independent risk factors for hearing loss in infants born at less than 32 weeks’ GA. Also, discrepancies between the screening and confirmatory test may occur, especially among male infants and those in whom vancomycin was used. The hearing of infants must be assessed more carefully in such groups regardless of NHS results.

No abstract available.
Biopsy*

Plasmodium vivax malaria re-emerged in South Korea in 1993, and epidemics continue since then. We examined genetic variation in the region encompassing the apical membrane antigen-1 (PvAMA-1) of the parasites by DNA sequencing of the 22 re-emerging P. vivax isolates. The genotype of the PvAMA-1, which was based on sequence data previously reported for the polymorphic regions, showed that two haplotypes were present at one polymorphic site. Compared with reported data, the two types, SKOR type I and type II, were similar to Chinese CH-10A and CH-05A isolates, respectively. Thus, the present study showed that two genotypes of AMA-1 genes coexist in the re-emerging Korean P. vivax.
Adult ; Aged ; Amino Acid Sequence ; Animals ; *Antigens, Protozoan ; Base Sequence ; Child ; Female ; Genotype ; Human ; Korea ; Malaria, Vivax/*genetics ; Male ; Membrane Proteins/chemistry/*genetics ; Middle Aged ; Molecular Sequence Data ; Polymorphism (Genetics) ; Protozoan Proteins/chemistry/*genetics ; Support, Non-U.S. Gov't

No abstract available.
Adenocarcinoma* ; Scrotum* ; Stomach Neoplasms*

59 children seen from Jan. 1990 to Jun. 1994 with epilepsy were retrospectively reviewed to evaluate the tendency of recurrence and the risk factors after the antiepileptic drug discontinuation. The population consisted of 59 children who were seizure free for more than 2 years and followed up for more than 1 year after the discontinuation via department of pediatrics, Yonsei University, Wonju College of Medicine. We analyzed risk factors of recurrence(age of seizure onset, seizure frequency before treatment, interval from seizure onset to start of treatment, duration from neurologic disorders, and EEG done just before discontinuation) between non-recurrent group(43 patients) and recurrent group(16 patients). The results were as follows: 1) In 59 patients with epilepsy, 16(27.1%) patients showed recurrence after the discontinuation and 14(87.5%) patients of those were developed during taperring and within less than 1 year. The probability of recurrent seizure by Kaplan-Meier curve at 12 and 24 months after discontinuation are 23.7% and 33.6% respectively. 2) There were significant differences on seizure frequency before treatement, duration from start of treatment to control (9.5months vs 31.1months), and associated neurologic disorders(11.6% vs. 56.2%) between non-recurrent and recurrent group. 3) There were no significant differences on age at seizure onset(70.6 months vs. 58.5months), interval from seizure onset to start of treatment(9.5months vs. 6.6months), length of seizure free(49.7months vs 39.3months), abnormal EEG finding done just before withdrawal(23.2% vs. 25.0% ) between non-recurrent and recurrent group.
Child ; Electroencephalography ; Epilepsy* ; Gangwon-do ; Humans ; Nervous System Diseases ; Pediatrics ; Recurrence* ; Retrospective Studies ; Risk Factors* ; Seizures

BACKGROUND: The aim of this study is to evaluate the influence of immunosuppressants on in-hospital mortality from sepsis. METHODS: Using data of the Health Insurance Review & Assessment Service, we collected data from patients who were admitted to the hospital due to sepsis from 2009 to 2013. Based on drugs commonly used for immunosuppression caused by various diseases, patients were divided into three groups; immunosuppressant group, steroid-only group, and control group. Patients with no history of immunosuppressants or steroids were assigned to the control group. To identify risk factors of in-hospital mortality in sepsis, we compared differences in patient characteristics, comorbidities, intensive care unit (ICU) care requirements, and immunodeficiency profiles. Subgroup analysis according to age was also performed. RESULTS: Of the 185,671 included patients, 13,935 (7.5%) were in the steroid-only group and 2,771 patients (1.5%) were in the immunosuppressant group. The overall in-hospital mortality was 38.9% and showed an increasing trend with age. The steroid-only group showed the lowest in-hospital mortality among the three groups except the patients younger than 30 years. The steroid-only group and immunosuppressant group received ICU treatment more frequently (p < 0.001), stayed longer in the hospital (p < 0.001), and showed higher medical expenditure (p < 0.001) compared to the normal group. Univariate and multivariate analyses revealed that age, male gender, comorbidities (especially malignancy), and ICU treatment had a significant effect on in-hospital mortality. CONCLUSIONS: Despite longer hospital length of stay and more frequent need for ICU care, the in-hospital mortality was lower in patients taking immunosuppressive drugs than in patients not taking immunosuppressive drugs.
Comorbidity ; Health Expenditures ; Hospital Mortality ; Humans ; Immunosuppression ; Immunosuppressive Agents ; Insurance* ; Insurance, Health ; Intensive Care Units ; Korea* ; Length of Stay ; Male ; Mortality ; Multivariate Analysis ; Risk Factors ; Sepsis* ; Steroids

PURPOSE: After delivery, eating brown seaweed soup is a typical Korean tranditional habit. But, excessive intake of iodine transiently inhibits biosynthesis and secretion of thyroid hormones if a certain threshold of iodine is reached in the serum. The aim of our study was to demonstrate whether the observed the elevations of TSH level in the breast fed neonatal infants was caused by mother's eating brown seaweed soup or not. METHODS: We performed neonatal TSH test by enzyme linked immunosorbent assay(FRELISA Screenig TSH) and cheked TSH level for 178 newborns with a appropriate gestational age. We divided the study subject into 3 groups, the group used breast feeding, mother had taken brown seaweed soup and blood sampled at 6th day after birth was categorized Group A, formular feeding, blood sampled at the 4th days after birth was categorized Group B, breast feeding and had taken brown seaweed soup and blood sampled at the 19th day after birth was categorized Group C. RESULTS: 1) The mean TSH level was 1.5+/-1.3 uU/ml in Group A, 3.3+/-2.5uU/ml in Group B, 1.7+/-l.3uU/ml in Group C(Group A vs Group B: p<0.05, Group A vs Group C: p<0.05). 2) There was no statistical significances between the TSH levels and the amount of brown seaweed soup which mother had one day, the duration which mother had brown seaweed soup and duration of breast feeding. CONCLUSIONS: Mother had taken brown seaweed soup about 3 times a day in korea at present days, There was no significant changes of TSH levels in the beast fed newborn infants after the korean mother had taken brown seaweed soup.
Breast Feeding* ; Breast* ; Eating* ; Gestational Age ; Humans ; Infant ; Infant, Newborn* ; Iodine ; Korea ; Mothers ; Parturition ; Seaweed* ; Thyroid Hormones