The effect of the developed symmetric upper extremity motion trainer on the cortical activation pattern was investigated in three chronic hemiparetic patients using both fMRI and Fugl-Meyer test. The training program was performed at 1 hr/day, 5 days/week during 6 weeks. Fugl-Meyer tests were performed every two weeks during the training. fMRI was performed at 3T scanner with wrist flexion-extension in two different tasks before and after the training program: the only unaffected hand movement (Task 1) and passive movements of affected hand by the active movement of unaffected hand (Task 2). fMRI studies in Task 1 showed that cortical activations decreased in ipsilateral SMC but increased in contralateral SMC. Task 2 showed cortical reorganizations in bilateral SMC, PMA and SMA. Therefore, it seems that the cortical reorganization in chronic hemiparetic patients can be induced by the training with the developed symmetric upper extremity motion trainer.
Brain Injuries* ; Brain* ; Education ; Hand ; Humans ; Magnetic Resonance Imaging* ; Recovery of Function* ; Upper Extremity* ; Wrist

To evaluate the effect of allergic parameters, such as serum IgE, eosinophil, and skin test on the bronchial hyperresponsiveness (BHR) in patients with chronic airflow obstruction, we performed methacholine bronchial provocation test, pulmonary function test, skin prick test, and measured blood eosinophil counts and serum IgE level from seventy-nine patients who showed persistent fixed airflow obstruction, less than 75% of predicted value in FEV~ and FEV1/FVC, despite of conventional treatment without steroid therapy for more than 3 months. The results were as follows 1) There were 53 patients with BHR and 26 patients without BHR. There were no statistically significant differences in sex, age, and smoking duration between positive BHR group and negative BHR group (p>0.05). 2) There was no statistically significant difference in absolute and predicted value of FVC(p>0.05). But there were significantly lower absolute, predicted value of FEV1 and FEV1/FVC% in positive group compared with negative group (p<0.05). 3) There was somewhat higher trend of serum IgE level in positive group. Skin test was not significantly different between two groups (p > 0.05 ). 4) Blood eosinophil count was significantly higher in positive group than in negative group(p<0.05). Conclusion of this study is that increased bronchial responsiveness in patients with chronic airflow obstruction is inversely related to the level of pulmonary function and significantly associated with blood eosinophilia.
Bronchial Provocation Tests ; Eosinophilia ; Eosinophils ; Humans ; Immunoglobulin E ; Methacholine Chloride ; Pulmonary Disease, Chronic Obstructive* ; Respiratory Function Tests ; Skin ; Skin Tests ; Smoke ; Smoking

PURPOSE: The aim of the current study is to assess the spectrum of genetic variation in the BRIP1 gene among Korean high-risk breast cancer patients who tested negative for the BRCA1/2 mutation. MATERIALS AND METHODS: Overall, 235 Korean patientswith BRCA1/2 mutation-negative high-risk breast cancerwere screened for BRIP1 mutations. The entire BRIP1 gene was analyzed using fluorescent-conformation sensitive gel electrophoresis. In silico analysis of BRIP1 variants was performed using PolyPhen-2 and SIFT. RESULTS: A total of 20 sequence alterations including 12 exonic and eight intronic variantswere found. Among the 12 exonic variants, 10 were missense and two were silent mutations. No protein-truncating mutation was found among the tested patients. Among the 10 missense variants, four (p.L263F, p.L340F, p.L474P, and p.R848H) were predicted to be pathogenic by both PolyPhen-2 and SIFT, and these variants were found in five patients. Of the four missense variants, p.L263F, p.L474P, and p.R848H localize to regions between the helicase motifs, while p.L340F resides in an iron-sulfur domain of BRIP1. CONCLUSION: No protein-truncating mutation in BRIP1 was found among the tested patients. The contribution of BRIP1 variants is thought to be minor in Korean non-BRCA1/2 high-risk breast cancer.
Breast Neoplasms* ; Breast* ; Computer Simulation ; Electrophoresis ; Exons ; Genetic Variation ; Hereditary Breast and Ovarian Cancer Syndrome ; Humans ; Introns ; Korea ; Silent Mutation

BACKGROUND: In humans, after fertilization, the zygote divides into two 2n diploid daughter blastomeres. During this division, DNA is replicated, and the remaining mutually exclusive genetic mutations in the genome of each cell are called post-zygotic variants. Using these somatic mutations, developmental lineages can be reconstructed. How these two blastomeres are contributing to the entire body is not yet identified. This study aims to evaluate the cellular contribution of two blastomeres of 2-cell embryos to the entire body in humans using post-zygotic variants based on whole genome sequencing. METHODS: Tissues from different anatomical areas were obtained from five donated cadavers for use in single-cell clonal expansion and bulk target sequencing. After conducting whole genome sequencing, computational analysis was applied to find the early embryonic mutations of each clone. We developed our in-house bioinformatics pipeline, and filtered variants using strict criteria, composed of mapping quality, base quality scores, depth, soft-clipped reads, and manual inspection, resulting in the construction of embryological phylogenetic cellular trees. RESULTS: Using our in-house pipeline for variant filtering, we could extract accurate true positive variants, and construct the embryological phylogenetic trees for each cadaver. We found that two daughter blastomeres, L1 and L2 (lineage 1 and 2, respectively), derived from the zygote, distribute unequally to the whole body at the clonal level. From bulk target sequencing data, we validated asymmetric contribution by means of the variant allele frequency of L1 and L2. The asymmetric contribution of L1 and L2 varied from person to person. CONCLUSION We confirmed that there is asymmetric contribution of two daughter blastomeres from the first division of the zygote across the whole human body.