Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

<p>Abstract</p> <p>Background</p> <p>Mutations in <it>SLC26A4 </it>cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity). The relationship between mutations in <it>SLC26A4 </it>and Mondini deformity without enlarged vestibular aqueduct has not been studied in any Chinese deaf population. The purpose of this study was to assess whether mutations in the <it>SLC26A4 </it>gene cause Mondini deformity without an enlarged vestibular aqueduct (isolated Mondini deformity) in a Chinese population.</p> <p>Methods</p> <p>In total, 144 patients with sensorineural hearing loss were included and subjected to high-resolution temporal bone CT. Among them, 28 patients with isolated Mondini dysplasia (MD group), 50 patients with enlarged vestibular aqueduct with Mondini dysplasia (EVA with MD group), 50 patients with enlarged vestibular aqueduct without Mondini dysplasia (EVA group), and 16 patients with other types of inner ear malformations (IEM group) were identified. The coding exons of <it>SLC26A4 </it>were analyzed in all subjects.</p> <p>Results</p> <p>DNA sequence analysis of <it>SLC26A4 </it>was performed in all 144 patients. In the different groups, the detection rate of the <it>SLC26A4 </it>mutation differed. In the isolated MD group, only one single allelic mutation in <it>SLC26A4 </it>was found in one patient (1/28, 3.6%). In the EVA with MD group, biallelic and monoallelic <it>SLC26A4 </it>mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. Also, in the EVA group, biallelic and monoallelic <it>SLC26A4 </it>mutations were identified in 46 patients (46/50, 92.0%) and three patients (3/50, 6.0%), respectively. These percentages were identical to those in the EVA plus MD group. Only two patients carried monoallelic mutations of the <it>SLC26A4 </it>gene in the IEM group (2/16, 12.5%). There were significant differences in the frequency of <it>SLC26A4 </it>mutation among the groups (P < 0.001). The detection rate of <it>SLC26A4 </it>mutation in the isolated MD group was significantly lower than in the EVA group (with or without MD; P < 0.001), and there was no significant difference in the detection rate of <it>SLC26A4 </it>between the MD group and IEM group (P > 0.5).</p> <p>Conclusion</p> <p>Although mutations in the <it>SLC26A4 </it>gene were frequently found in Chinese EVA patients with and without MD, there was no evidence to show a relationship between isolated MD and the <it>SLC26A4 </it>gene in the Chinese population examined. Hearing impairment in patients with isolated MD may be caused by factors other than mutations in the <it>SLC26A4 </it>gene.</p

A demand-response method to balance electric power-grids via HVAC systems using active energy-storage: simulation and on-site experiment

With the increasing popularity of renewable energy sources and the globally increasing electricity demand, the task of balancing the intermittent energy supply with varying demand becomes increasingly difficult. Instead of adjusting the supply, improving the demand response (DR) can be a more efficient way to optimize power balance. HVAC (heating, ventilation, and air-conditioning) systems, which operate on the demand side of power-grids, have a huge potential to improve the power balance. To assess their potential in a variable air volume (VAV) air-conditioning system with energy storage tank we introduce a demand response method that combines active cool-energy storage (ACES) with global temperature adjustment (GTA). To confirm the effectiveness of this combined ACES+GTA approach, we conduct measurements with the help of a full-scale VAV air-conditioning test setup. The experimental results are compared with a TRNSYS simulation. The measurements indicate that an energy-storing water-tank can effectively reduce the number of starts and stops for the heat pump. The simulation confirms that the ACES+GTA method can also effectively reduce the peak load of the power grid with little impact on the thermal comfort of the energy consumers. The cost-saving rate, compared to the conventional operating mode (no energy-storage during other periods), reaches 7.02% for an entire cooling season if the GTA method (with DR) is used

APTw combined with mDixon−Quant imaging to distinguish the differentiation degree of cervical squamous carcinoma

BackgroundTo investigate the value of amide proton transfer weighted (APTw) imaging combined with modified Dixon fat quantification (mDixon-Quant) imaging in determining the degree of differentiation of cervical squamous carcinoma (CSC) against histopathologic.MethodsMagnetic resonance imaging (MRI) data were collected from 52 CSC patients. According to histopathologic results, patients were divided into the poorly differentiated group (37 cases) and the well/moderately differentiated group (15 cases). The APTw value by APTw imaging and the fat fraction (FF) and transverse relaxation rate R2* values by mDixon-Quant were independently measured by two radiologists. Intra-class correlation coefficients (ICCs) were used to test the consistency of APTw, FF, and R2* values measured by the two observers. The Mann-Whitney U test was used to analyze the difference in each parameter between the two groups. Logistic regression analysis was used to assess the association between the degree of differentiation on histopathology and imaging parameters by APTw and mDixon Quant. The ROC curve was used to evaluate the diagnostic efficacy of various parameters and their combination in distinguishing the degree of CSC differentiation on histopathology. The DeLong test was used to access the differences among the area under the ROC curves (AUCs). The Pearson correlation coefficient was used to evaluate the correlation between APTw and mDixon-Quant imaging parameters.ResultsThe APTw means were 2.95 ± 0.78% and 2.05 (1.85, 2.65)% in the poorly and well/moderately differentiated groups, respectively. The R2* values were 26.62 (21.99, 33.31)/s and 22.93 ± 6.09/s in the poorly and well/moderately differentiated groups, respectively (P &lt; 0.05). The AUCs of APTw, R2*, and their combination were 0.762, 0.686, and 0.843, respectively. The Delong test suggested statistical significance between R2* and the combination of APTw and R2*. R2* values showed a significant correlation with APTw values in the poorly differentiated group.ConclusionsAPTw combined with mDixon-Quant can be used to efficiently distinguish the differention degrees of CSC diagnosed on histopathology