Investigation of the SH3BP2 Gene Mutation in Cherubism

Cherubism is a rare developmental lesion of the jaw that is generally inherited as an autosomal dominant trait. Recent studies have revealed point mutations in the SH3BP2 gene in cherubism patients. In this study, we examined a 6-year-old Korean boy and his family. We found a Pro418Arg mutation in the SH3BP2 gene of the patient and his mother. A father and his 30-month-old younger brother had no mutations. Immunohistochemically, the multinucleated giant cells proved positive for CD68 and tartrate-resistant acid phosphatase (TRAP). Numerous spindle-shaped stromal cells expressed a ligand for receptor activator of nuclear factor kB (RANKL), but not in multinucleated giant cells. These results provide evidence that RANKL plays a critical role in the differentiation of osteoclast precursor cells to multinucleated giant cells in cherubism. Additionally, genetic analysis may be a useful method for differentiation of cherubism.</p

Differences of Upper Airway Morphology According to Obesity: Study with Cephalometry and Dynamic MD-CT

ObjectivesWe investigated difference of parameters of polysomnography, cephalometry and dynamic multi-detector computerized tomography (MD-CT) in wake and sleep states according to obesity.MethodsWe evaluated 93 patients who underwent polysomnography and cephalometry. MD-CT was performed in 68 of these 93 patients. Fifty-nine and 34 patients were classified as obese and non-obese, with obesity defined as BMI ≥25. Cephalometry results were analyzed for 12 variables. Using the MD-CT, we evaluated dynamic upper airway morphology in wake and sleep states and divided the upper airway into four parts named as high retropalatal (HRP), low retropalatal (LRP), high retroglossal (HRG), and low retroglossal (LRG). A minimal cross sectional area (mCSA) and collapsibility index (CI) were calculated for each airway level.ResultsDiastolic blood pressure (P=0.0005), neck circumference (P<0.0001), and apnea-hypopnea index (P<0.0001) were statistically significantly different between the obese and non-obese group. Among 12 cephalometric variables, there was a significant difference in only the distance from mandibular plane to hyoid bone (P=0.003). There was statistical difference in CI of HRG and LRG in sleep state (P=0.0449, 0.0281) but no difference in mCSA in wake and sleep states.ConclusionThe obese group had more severe sleep apnea than the non-obese group. We believe that the increased severity of apnea in the obese group may be have been due to increased collapsibility of the upper airway rather than decreased size of the upper airway

Comparison of Physicochemical and Sensory Properties between Cholesterol-removed Gouda Cheese and Gouda Cheese during Ripening

This study was performed to compare physicochemical and sensory properties of cholesterol-removed Gouda cheese (CRGC) and Gouda cheese made in the laboratory during ripening. Composition, short-chain free fatty acids (SCFFA), texture, color, and sensory properties were measured. In chemical composition analyses, moistures were significantly different between control cheeses (42.86%) and sample cheese (48.32%) (p0.05). The amount of cholesterol in control was 82.52 mg/100 g and the percentage of cholesterol removal was 90.7%. SCFFA increased gradually during ripening and its level of CRGC increased and significantly different from that of control (p0.05). In comparison of the control and sample cheeses, hardness, and springiness were not significantly different, but cohesiveness, gumminess, and chewiness were different (p0.05). However, L* value decreased, while a* and b* values tended to increase significantly (p0.05). Therefore, this study suggests that the quality of cholesterol-removed Gouda cheese is not different from the control cheese

Carpal Tunnel Syndrome Caused by Space Occupying Lesions

PURPOSE: To evaluate the diagnosis and treatment of the carpal tunnel syndrome (CTS) due to space occupying lesions (SOL). MATERIALS and METHODS: Eleven patients and 12 cases that underwent surgery for CTS due to SOL were studied retrospectively. We excluded SOL caused by bony lesions, such as malunion of distal radius fracture, volar lunate dislocation, etc. the average age was 51 years. There were 3 men and 8 women. Follow-up period was 12 to 40 months with an average of 18 months. the diagnosis of CTS was made clinically and electrophysiologically. in patients with swelling or tenderness on the area of wrist flexion creases, magnetic resonance imaging (MRI) and/or computed tomogram (CT) were additionally taken as well as the carpal tunnel view. We performed conventional open transverse carpal ligament release and removal of SOL. RESULTS: the types of lesion confirmed by pathologic examination were; tuberculosis tenosynovitis in 3 cases, nonspecific tenosynovitis in 2 cases, and gout in one case. Other SOLs were tumorous condition in five cases, and abnormal palmaris longus hypertrophy in 1 case. Tumorous conditions were due to calcifying mass in 4 cases and ganglion in 1 case. Following surgery, all cases showed alleviation of symptom without recurrence or complications. CONCLUSION: in cases with swelling or tenderness on the area of wrist flexion creases, it is important to obtain a carpal tunnel view, and MRI and/or CT should be supplemented in order to rule out SOLs around the carpal tunnel, if necessary.ope

Construction cost estimation using a case-based reasoning hybrid genetic algorithm based on local search method

Estimates of project costs in the early stages of a construction project have a significant impact on the operator\u27s decision-making in essential matters, such as the site\u27s decision or the construction period. However, it is not easy to carry out the initial stage with confidence, because information such as design books and specifications is not available. In previous studies, case-based reasoning (CBR) is used to estimate initial construction costs, and genetic algorithms are used to calculate the weight of the retrieve phase in CBR\u27s process. However, it is difficult to draw a better solution than the current one, because existing genetic algorithms use random numbers. To overcome these limitations, we reflect correlation numbers in the genetic algorithms by using the method of local search. Then, we determine the weights using a hybrid genetic algorithm that combines local search and genetic algorithms. A case-based reasoning model was developed using a hybrid genetic algorithm. Then, the model was verified with construction cost data that were not used for the development of the model. As a result, it was found that the hybrid genetic algorithm and case-based reasoning applied with the local search performed better than the existing solution. The detail mean error value was found to be 3.52%, 6.15%, and 0.33% higher for each case than the previous one

Institutional Change and Continuity in Koreas Central Agencies, 1948-2011

This article analyzes Koreas central agencies, which have been organized and reorganized to support presidential executive leadership since the foundation of the Republic. Each central agency has carried out the standardization of a core administrative function which is essential to the operation of administrative apparatuses, including policy planning and coordination, budgeting, organizing, staffing, legislation, public relations, central-local relations, control and performance evaluation, etc. The six decades of institutionalization can be characterized, based on the central agencies proportion of the total administrative apparatus, into three phases: high (more than 35 percent, 1948-1961), middle (around 20 percent, 1962-2007), and low (about 10 percent, 2008-present). Regardless of the changing size and organizational configuration of the central agencies, however, their roles and influence as core executive apparatuses have remained largely unchanged, especially since the early 1960s. More than 67 percent, on average, of the heads and deputy heads of CAs have been former public servants, less than 18 percent have been former politicians, and about 15percent have been former outside experts. This strong bureaucratic background has oriented Koreas core executive policy direction significantly toward longterm, consistent, and plan rationality rather than short-term, flexible, and democratic responsiveness

Proteomic and biochemical analyses reveal the activation of unfolded protein response, ERK-1/2 and ribosomal protein S6 signaling in experimental autoimmune myocarditis rat model

<p>Abstract</p> <p>Background</p> <p>To investigate the molecular and cellular pathogenesis underlying myocarditis, we used an experimental autoimmune myocarditis (EAM)-induced heart failure rat model that represents T cell mediated postinflammatory heart disorders.</p> <p>Results</p> <p>By performing unbiased 2-dimensional electrophoresis of protein extracts from control rat heart tissues and EAM rat heart tissues, followed by nano-HPLC-ESI-QIT-MS, 67 proteins were identified from 71 spots that exhibited significantly altered expression levels. The majority of up-regulated proteins were confidently associated with unfolded protein responses (UPR), while the majority of down-regulated proteins were involved with the generation of precursor metabolites and energy metabolism in mitochondria. Although there was no difference in AKT signaling between EAM rat heart tissues and control rat heart tissues, the amounts and activities of extracellular signal-regulated kinase (ERK)-1/2 and ribosomal protein S6 (rpS6) were significantly increased. By comparing our data with the previously reported myocardial proteome of the Coxsackie viruses of group B (CVB)-mediated myocarditis model, we found that UPR-related proteins were commonly up-regulated in two murine myocarditis models. Even though only two out of 29 down-regulated proteins in EAM rat heart tissues were also dysregulated in CVB-infected rat heart tissues, other proteins known to be involved with the generation of precursor metabolites and energy metabolism in mitochondria were also dysregulated in CVB-mediated myocarditis rat heart tissues, suggesting that impairment of mitochondrial functions may be a common underlying mechanism of the two murine myocarditis models.</p> <p>Conclusions</p> <p>UPR, ERK-1/2 and S6RP signaling were activated in both EAM- and CVB-induced myocarditis murine models. Thus, the conserved components of signaling pathways in two murine models of acute myocarditis could be targets for developing new therapeutic drugs or methods aimed at treating enigmatic myocarditis.</p