No abstract available.

No abstract available.
Child* ; Humans

Various methodologies for the genetic analysis of longitudinal data have been proposed and applied to data from large-scale genome-wide association studies (GWAS) to identify single nucleotide polymorphisms (SNPs) associated with traits of interest and to detect SNP-time interactions. We recently proposed a grid-based Bayesian mixed model for longitudinal genetic data and showed that our Bayesian method increased the statistical power compared to the corresponding univariate method and well detected SNP-time interactions. In this paper, we further analyze longitudinal obesity-related traits such as body mass index, hip circumference, waist circumference, and waist-hip ratio from Korea Association Resource data to evaluate the proposed Bayesian method. We first conducted GWAS analyses of cross-sectional traits and combined the results of GWAS analyses through a meta-analysis based on a trajectory model and a random-effects model. We then applied our Bayesian method to a subset of SNPs selected by meta-analysis to further discover SNPs associated with traits of interest and SNP-time interactions. The proposed Bayesian method identified several novel SNPs associated with longitudinal obesity-related traits, and almost 25% of the identified SNPs had significant p-values for SNP-time interactions.

BACKGROUND: Fragile X syndrome is one of the most common causes of mental retardation. For its prevention, detection of premutation range CGG repeat in FMR1 gene is necessary. The aim of our study was to determine the prevalence of premutation range of CGG repeat in neonate, and to evaluate the possibility of screening test. METHODS: DNA were extracted from Guthrie paper blood spot, referred for neonatal metabolic screening test, collected during the period of March 1996 through August 1996, at Chunchon Sacred Heart Hospital. Then FMR1 gene involving CGG repeat was amplified by polymerase chain reaction, and then abnormal expansion of CGG were analyzed by agarose gel electrophoresis and digoxigenin labelled chemiluminescent detection method. RESULTS: Four cases among 669 PCR product were appeared to have abnormal CGG expansion and 3 out of the 4 cases were confirmed to have abnormal CGG repeat by chemiluminescent detection method. CONCLUSION: We found 3 premutation range CGG expansion with a prevalence of 1/233 in neonate. Although PCR based agarose gel electrophoresis alone is not suitable for screening test, it could be a useful tool for fragile X screening test in combination with chemiluminescent detection method.
Digoxigenin ; DNA ; Electrophoresis, Agar Gel ; Fragile X Syndrome ; Gangwon-do ; Heart ; Humans ; Infant, Newborn ; Intellectual Disability ; Mass Screening ; Polymerase Chain Reaction* ; Prevalence*

Objective: Commonly, brain temperature is estimated from measurements of body temperature. However, temperature difference between brain and body is still controversy.The objective of this study is to know temperature gradient between the brain and axilla according to body temperature in the patient with brain injury. Methods: A total of 135 patients who had undergone cranial operation and had the thermal diffusion flow meter (TDF) insert were included in this analysis. The brain and axilla temperatures were measured simultaneously every 2 hours with TDF (2 kinds of devices:SABER 2000 and Hemedex) and a mercury thermometer. Saved data were divided into 3 groups according to axillary temperature. Three groups are hypothermia group (less than 36.4°C), normothermia group (between 36.5°C and 37.5°C), and hyperthermia group (more than 37.6°C). Results: The temperature difference between brain temperature and axillary temperature was 0.93±0.50°C in all data pairs, whereas it was 1.28±0.56°C in hypothermia, 0.87±0.43°C in normothermia, and 0.71±0.41°C in hyperthermia. The temperature difference was statistically significant between the hypothermia and normothermia groups (p=0.000), but not between the normothermia and hyperthermia group (p=0.201). Conclusion This study show that brain temperature is significantly higher than the axillary temperature and hypothermia therapy is associated with large brain-axilla temperature gradients. If you do not have a special brain temperature measuring device, the results of this study will help predict brain temperature by measuring axillary temperature.

A 39-year old female presented with chronic spinal subdural hematoma manifesting as low back pain and radiating pain from both legs. Magnetic resonance imaging (MRI) showed spinal subdural hematoma (SDH) extending from L4 to S2 leading to severe central spinal canal stenosis. One day after admission, she complained of nausea and severe headache. Computed tomography of the brain revealed chronic SDH associated with midline shift. Intracranial chronic SDH was evacuated through two burr holes. Back pain and radiating leg pain derived from the spinal SDH diminished about 2 weeks after admission and spinal SDH was completely resolved on MRI obtained 3 months after onset. Physicians should be aware of such a condition and check the possibility of concurrent cranial SDH in patients with spinal SDH, especially with non-traumatic origin.
Back Pain ; Brain ; Constriction, Pathologic ; Female ; Headache ; Hematoma, Subdural ; Hematoma, Subdural, Spinal ; Humans ; Leg ; Low Back Pain ; Magnetic Resonance Imaging ; Nausea ; Spinal Canal

BACKGROUND: Simplified acute physiology score 3 (SAPS3) was developed in 2005 to evaluate intensive care unit (ICU) performance and to predict patient mortality or disease severity. The score is usually calculated by doctors, but it requires substantial human resources. And many nurse-lead studies use this scoring system. In the present study, we examined the inter-rater reliability of SAPS3 among nurses in an ICU. METHODS: Five ICU nurses who worked in an ICU for a mean length of 7.8 years were educated for 2 hours about SAPS3 score and its components. Each nurse scored 26 patients, and the intraclass correlation coefficient (ICC) of the total scores and each subset were evaluated. RESULTS: The ICC (95% confidence interval) of SAPS3 score was 0.89 (0.82-0.95), that of subset I was 0.90 (0.82-0.95), subset II was 0.54 (0.35-0.73), and subset III was 0.95 (0.91-0.97). The ICC of predicted mortality was 0.91 (0.85-0.96). CONCLUSIONS: The ICC of SAPS3 score and predicted mortality among ICU nurses were reliable. According to these ICC values, SAPS3 score is a reliable scale to be used by nurses. The ICC of subset II was lower than those of the other subsets, suggesting that education of SAPS3 should focus on the definition of each subset II component.
Critical Care ; Education ; Humans ; Intensive Care Units* ; Mortality ; Observer Variation ; Physiology* ; Severity of Illness Index

Stem cell therapies are administered during the acute phase of stroke to preserve the penumbral tissues from ischemic injury. However, the effect of repeated cell therapy during the acute phase remains unclear. In this study, we investigated and compared the functional outcome of single (two days post-injury) and repeated (two and nine days post-injury) treatment with human umbilical cord derived mesenchymal stem cells (hUCB-MSCs) after middle cerebral artery occlusion (MCAO). The rotarod and limb placement tests were utilized to investigate functional outcomes, while infarct volume and tissue damage were measured by immunofluorescent staining for neovascularization, neurogenesis, apoptosis, and inflammation in the penumbral zones. We observed notable motor dysfunction and a significant decrease in infarcted brain volume, as well as increases in neurons and vessels in both single and repeated hUCB-MSC treatments compared to the control group. Interestingly, repeated administration of hUCB-MSCs was not found to elicit additional or synergistic improvements over monotherapy. This study suggests that a clearer understanding of the therapeutic window after stroke will facilitate the development of more efficient treatment protocols in the clinical application of stem cell therapy.
Animals ; Apoptosis ; Brain ; Brain Ischemia* ; Cell- and Tissue-Based Therapy ; Clinical Protocols ; Extremities ; Humans* ; Infarction, Middle Cerebral Artery ; Inflammation ; Ischemia ; Mesenchymal Stromal Cells* ; Neurogenesis ; Neurons ; Rats* ; Stem Cells ; Stroke ; Umbilical Cord*

Intracerebral hemorrhage (ICH) is one of the devastating types of stroke. Human umbilical cord blood-derived mesenchymal stem cells (hUCB-MSCs) have potential benefits in recovery from brain damage following ICH. This study aimed to identify the beneficial effects of hUCB-MSCs and investigate whether they have anti-inflammatory effects on the ICH brain via neurotrophic factors or cytokines. hUCB-MSCs were transplanted into a collagenase-induced ICH rat model. At 2, 9, 16, and 30 days after ICH, rotarod and limb placement tests were performed to measure behavioral outcomes. ICH rats were sacrificed to evaluate the volume of lesion using H&E staining. Immunostaining was performed to investigate neurogenesis, angiogenesis, and anti-apoptosis at 4 weeks after transplantation. Inflammatory factors (TNF-alpha, COX-2, microglia, and neutrophils) were analyzed by immunofluorescence staining, RT-PCR, and Western blot at 3 days after transplantation. hUCB-MSCs were associated with neurological benefits and reduction in lesion volume. The hUCB-MSCs-treated group tended to reveal high levels of neurogenesis, angiogenesis, and anti-apoptosis (significant for angiogenesis). The expression levels of inflammatory factors tended to be reduced in the hUCB-MSCs-treated group compared with the controls. Our study suggests that hUCB-MSCs may improve neurological outcomes and modulate inflammation-associated immune cells and cytokines in ICH-induced inflammatory responses.
Animals ; Apoptosis ; Blotting, Western ; Brain ; Cerebral Hemorrhage* ; Cytokines ; Extremities ; Fluorescent Antibody Technique ; Humans ; Mesenchymal Stromal Cells* ; Microglia ; Models, Animal* ; Nerve Growth Factors ; Neurogenesis ; Rats ; Stroke ; Umbilical Cord*

BACKGROUND: Using analysis of air samples from the workplace, we report on one case of pneumoconiosis in an individual who has been working in a polytetrafluoroethylene (PTFE) spraying process for 28 years. CASE PRESENTATION: The patient was diagnosed with granulomatous lung disease caused by PTFE using computed tomography (CT), lung biopsy and electron microscopy. To assess the qualitative and quantitative exposure to PTFE in workplace, Fourier transform infrared spectroscopy (FT-IR), energy-dispersive X-ray spectroscopy (EDX) and thermogravimetric analysis (TGA) were performed on air samples from the workplace. The presence of PTFE particles was confirmed, and the airborne concentration of PTFE was estimated to be 0.75 mg/m3. CONCLUSIONS: This case demonstrates that long-term exposure to PTFE spraying can cause granulomatous lung lesions such as pneumoconiosis; such lesions appear to be caused not by the degradation products of PTFE from high temperatures but by spraying the particles of PTFE. Along with air-sampling analysis, we suggest monitoring the concentration of airborne PTFE particles related to chronic lung disease.
Biopsy ; Humans ; Hygiene ; Lung ; Lung Diseases ; Microscopy, Electron ; Occupational Diseases ; Pneumoconiosis ; Polytetrafluoroethylene ; Spectroscopy, Fourier Transform Infrared ; Spectrum Analysis