Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series

Both Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by mutations of the X-linked dystrophin gene. BMD patients are less affected clinically than DMD patients. We present five patients with a diagnosis of BMD. First, two identical twins, with a deletion of exon 48 of the dystrophin gene, who experienced prominent muscle cramps from the age of three. The histopathological examination of muscle biopsies of these two twins revealed only very slight muscle fiber alterations. Second, two brothers who displayed marked, unusual intrafamilial variability of the clinical picture as well as showing a new point mutation in the dystrophin gene. And finally, a fifth boy who displayed a new point mutation in the dystrophin gene. Although he was clinically asymptomatic at the age of 15 and muscle biopsy only showed very minor myopathic signs, serum Creatine Kinase (CK) levels had been considerably elevated for years. Taken together, these cases add to the spectrum of marked discrepancies in clinical, histopathological and molecular genetic findings in BMD.

Use of straight and curved 3-dimensional titanium miniplates for fracture fixation at the mandibular angle

PURPOSE: The aim of this follow-up study was to evaluate the clinical usefulness of a new type of 3-dimensional (3D) miniplate for open reduction and monocortical fixation of mandibular angle fractures. PATIENTS AND METHODS: In 20 consecutive patients, noncomminuted mandibular angle fractures were treated with open reduction and fixation using a 2 mm 3D miniplate system in a transoral approach. All patients were systematically monitored until 6 months postoperatively. Among the outcome parameters recorded were infection, hardware failure, wound dehiscence, and sensory disturbance of the inferior alveolar nerve. RESULTS: The mean operation time from incision to wound closure was 65 minutes. Two patients had a mucosal wound dehiscence with no consequences. None developed an infection requiring a plate removal. All but 2 patients had normal sensory function 3 months after surgery. Plate fracture occurred in one patient in whom a preceding surgical removal of the third molar had been the reason for the mandibular fracture. In the absence of clinical symptoms, the patient declined plate removal. On final follow-up, fracture healing was considered clinically complete in all patients. CONCLUSIONS: The 3D plating system described here is suitable for fixation of simple mandibular angle fractures and is an easy-to-use alternative to conventional miniplates. The system may be contraindicated in patients in whom insufficient interfragmentary bone contact causes minor stability of the fracture.

Increased plasma endothelin-1 levels in patients with progressive open angle glaucoma

AIM: To compare the plasma levels of endothelin-1 (ET-1) between patients with primary open angle glaucoma with visual field progression despite normal or normalised intraocular pressure and patients with stabile visual fields in a retrospective study. METHODS: The progressive group consisted of 16 primary open angle glaucoma patients and the group with stable visual field consisted of 15 patients. After a 30 minute rest in a supine position, venous blood was obtained for ET-1 dosing. Difference in the plasma level of ET-1 between two groups was compared by means of analysis of covariance (ANCOVA), including age, sex, and mean arterial blood pressure as covariates. RESULTS: ET-1 plasma levels were found to be significantly increased in patients with deteriorating (3.47 (SD 0.75) pg/ml) glaucoma when compared to those with stable (2.59 (SD 0.54) pg/ml) visual fields (p = 0.0007). CONCLUSIONS: Glaucoma patients with visual field progression in spite of normal or normalised intraocular pressure have been found to have increased plasma endothelin-1 levels. It remains to be determined if this is a secondary phenomenon or whether it may have a role in the progression of glaucomatous damage.

Multi-node TOA-DOA cooperative LOS-NLOS localization : enabling high accuracy and reliability

This dissertation investigates high performance cooperative localization in wireless environments based on multi-node time-of-arrival (TOA) and direction-of-arrival (DOA) estimations in line-of-sight (LOS) and non-LOS (NLOS) scenarios. Here, two categories of nodes are assumed: base nodes (BNs) and target nodes (TNs). BNs are equipped with antenna arrays and capable of estimating TOA (range) and DOA (angle). TNs are equipped with Omni-directional antennas and communicate with BNs to allow BNs to localize TNs; thus, the proposed localization is maintained by BNs and TNs cooperation. First, a LOS localization method is proposed, which is based on semi-distributed multi-node TOA-DOA fusion. The proposed technique is applicable to mobile ad-hoc networks (MANETs). We assume LOS is available between BNs and TNs. One BN is selected as the reference BN, and other nodes are localized in the coordinates of the reference BN. Each BN can localize TNs located in its coverage area independently. In addition, a TN might be localized by multiple BNs. High performance localization is attainable via multi-node TOA-DOA fusion. The complexity of the semi-distributed multi-node TOA-DOA fusion is low because the total computational load is distributed across all BNs. To evaluate the localization accuracy of the proposed method, we compare the proposed method with global positioning system (GPS) aided TOA (DOA) fusion, which are applicable to MANETs. The comparison criterion is the localization circular error probability (CEP). The results confirm that the proposed method is suitable for moderate scale MANETs, while GPS-aided TOA fusion is suitable for large scale MANETs. Usually, TOA and DOA of TNs are periodically estimated by BNs. Thus, Kalman filter (KF) is integrated with multi-node TOA-DOA fusion to further improve its performance. The integration of KF and multi-node TOA-DOA fusion is compared with extended-KF (EKF) when it is applied to multiple TOA-DOA estimations made by multiple BNs. The comparison depicts that it is stable (no divergence takes place) and its accuracy is slightly lower than that of the EKF, if the EKF converges. However, the EKF may diverge while the integration of KF and multi-node TOA-DOA fusion does not; thus, the reliability of the proposed method is higher. In addition, the computational complexity of the integration of KF and multi-node TOA-DOA fusion is much lower than that of EKF. In wireless environments, LOS might be obstructed. This degrades the localization reliability. Antenna arrays installed at each BN is incorporated to allow each BN to identify NLOS scenarios independently. Here, a single BN measures the phase difference across two antenna elements using a synchronized bi-receiver system, and maps it into wireless channel’s K-factor. The larger K is, the more likely the channel would be a LOS one. Next, the K-factor is incorporated to identify NLOS scenarios. The performance of this system is characterized in terms of probability of LOS and NLOS identification. The latency of the method is small. Finally, a multi-node NLOS identification and localization method is proposed to improve localization reliability. In this case, multiple BNs engage in the process of NLOS identification, shared reflectors determination and localization, and NLOS TN localization. In NLOS scenarios, when there are three or more shared reflectors, those reflectors are localized via DOA fusion, and then a TN is localized via TOA fusion based on the localization of shared reflectors.

Effect of segmented anodes on the performance and plume of a hall thruster

Development of alternative propellants for Hall thruster operation is an active area of research. Xenon is the current propellant of choice for Hall thrusters, but can be costly in large thrusters and for extended test periods. Condensible propellants may offer an alternative to xenon, as they will not require costly active pumping to remove from a test facility, and may be less expensive to purchase. A method has been developed which uses segmented electrodes in the discharge channel of a Hall thruster to divert discharge current to and from the main anode and thus control the anode temperature. By placing a propellant reservoir in the anode, the evaporation rate, and hence, mass flow of propellant can be controlled. Segmented electrodes for thermal control of a Hall thruster represent a unique strategy of thruster design, and thus the performance of the thruster must be measured to determine the effect the electrodes have on the thruster. Furthermore, the source of any changes in thruster performance due to the adjustment of discharge current between the shims and the main anode must be characterized. A Hall thruster was designed and constructed with segmented electrodes. It was then tested at anode voltages between 300 and 400 V and mass flows between 4 and 6 mg/s, as well as 100%, 75%, 50%, 25%, and <5% of the discharge current on the shim electrodes. The level of current on the shims was adjusted by changing the shim voltage. At each operating point, the thruster performance, plume divergence, ion energy, and multiply charged ion fraction were measured performance exhibited a small change with the level of discharge current on the shim electrodes. Thrust and specific impulse increased by as much as 6% and 7.7%, respectively, as discharge current was shifted from the main anode to the shims at constant anode voltage. Thruster efficiency did not change. Plume divergence was reduced by approximately 4 degrees of half-angle at high levels of current on the shims and at all combinations of mass flow and anode voltage. The fraction of singly charged xenon in the thruster plume varied between approximately 80% and 95% as the anode voltage and mass flow were changed, but did not show a significant change with shim current. Doubly and triply charged xenon made up the remainder of the ions detected. Ion energy exhibited a mixed behavior. The highest voltage present in the thruster largely dictated the most probable energy; either shim or anode voltage, depending on which was higher. The overall change in most probable ion energy was 20-30 eV, the majority of which took place while the shim voltage was higher than the anode voltage. The thrust, specific impulse, plume divergence, and ion energy all indicate that the thruster is capable of a higher performance output at high levels of discharge current on the shims. The lack of a change in efficiency and fraction of multiply charged ions indicate that the thruster can be operated at any level of current on the shims without detrimental effect, and thus a condensible propellant thruster can control the anode temperature without a decrease in efficiency or a change in the multiply charged ion fraction.

Static and dynamic contact angle measurement on rough surfaces using sessile drop profile analysis with application to water management in low temperature fuel cells

Fuel Cells are a promising alternative energy technology. One of the biggest problems that exists in fuel cell is that of water management. A better understanding of wettability characteristics in the fuel cells is needed to alleviate the problem of water management. Contact angle data on gas diffusion layers (GDL) of the fuel cells can be used to characterize the wettability of GDL in fuel cells. A contact angle measurement program has been developed to measure the contact angle of sessile drops from drop images. Digitization of drop images induces pixel errors in the contact angle measurement process. The resulting uncertainty in contact angle measurement has been analyzed. An experimental apparatus has been developed for contact angle measurements at different temperature, with the feature to measure advancing and receding contact angles on gas diffusion layers of fuel cells.

Divergence along a steep ecological gradient in lake whitefish (Coregonus sp.)

To understand mechanisms structuring diversity in young adaptive radiations, quantitative and unbiased information about genetic and phenotypic diversity is much needed. Here, we present the first in-depth investigation of whitefish diversity in a Swiss lake, with continuous spawning habitat sampling in both time and space. Our results show a clear cline like pattern in genetics and morphology of populations sampled along an ecological depth gradient in Lake Neuchâtel. Divergent natural selection appears to be involved in shaping this cline given that trait specific P(ST)-values are significantly higher than F(ST)-values when comparing populations caught at different depths. These differences also tend to increase with increasing differences in depth, indicating adaptive divergence along a depth gradient, which persists despite considerable gene flow between adjacent demes. It however remains unclear, whether the observed pattern is a result of currently stable selection-gene flow balance, incipient speciation, or reverse speciation due to anthropogenic habitat alteration causing two formerly divergent species to collapse into a single gene pool.

Impingement-free hip motion: the 'normal' angle alpha after osteochondroplasty

Femoroacetabular impingement is considered a cause of hip osteoarthrosis. In cam impingement, an aspherical head-neck junction is squeezed into the joint and causes acetabular cartilage damage. The anterior offset angle alpha, observed on a lateral crosstable radiograph, reflects the location where the femoral head becomes aspheric. Previous studies reported a mean angle alpha of 42 degrees in asymptomatic patients. Currently, it is believed an angle alpha of 50 degrees to 55 degrees is normal. The aim of this study was to identify that angle alpha which allows impingement-free motion. In 45 patients who underwent surgical treatment for femoroacetabular impingement, we measured the angle alpha preoperatively, immediately postoperatively, and 1 year postoperatively. All hips underwent femoral correction and, if necessary, acetabular correction. The correction was considered sufficient when, in 90 degrees hip flexion, an internal rotation of 20 degrees to 25 degrees was possible. The angle alpha was corrected from a preoperative mean of 66 degrees (range, 45 degrees - 79 degrees) to 43 degrees (range, 34 degrees - 60 degrees) postoperatively. Because the acetabulum is corrected to normal first, the femoral correction is tested against a normal acetabulum. We therefore concluded an angle alpha of 43 degrees achieved surgically and with impingement-free motion, represents the normal angle alpha, an angle lower than that currently considered sufficient.