Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene

OBJECTIVES: We studied the clinical and genetic features of familial hypertrophic cardiomyopathy (FHC) caused by an Asp175Asn mutation in the alpha-tropomyosin gene in affected subjects from three unrelated families. BACKGROUND: Correlation of genotype and phenotype has provided important information in FHC caused by beta-cardiac myosin and cardiac troponin T mutations. Comparable analyses of hypertrophic cardiomyopathy caused by alpha-tropomyosin mutations have been hampered by the rarity of these genetic defects. METHODS: The haplotypes of three kindreds with FHC due to an alpha-tropomyosin gene mutation, Asp175Asn, were analyzed. The cardiac histopathologic findings of this mutation are reported. Distribution of left ventricular hypertrophy in affected members was assessed by two-dimensional echocardiography, and patient survival rates were compared. RESULTS: Genetic studies defined unique haplotypes in the three families, demonstrating that independent mutations caused the disease in each. The Asp175Asn mutation caused cardiac histopathologic findings of myocyte hypertrophy, disarray and replacement fibrosis. The severity and distribution of left ventricular hypertrophy varied considerably in affected members from the three families (mean maximal wall thickness +/- SD: 24 +/- 4.5 mm in anterior septum of Family DT; 15 +/- 2.7 mm in anterior septum and free wall of Family DB; 18 +/- 2.1 mm in posterior septum of Family MI), but survival was comparable and favorable. CONCLUSIONS: Nucleotide residue 579 in the alpha-tropomyosin gene may have increased susceptibility to mutation. On cardiac histopathologic study, defects in this sarcomere thin filament component are indistinguishable from other genetic etiologies of hypertrophic cardiomyopathy. The Asp175Asn mutation can elicit different morphologic responses, suggesting that the hypertrophic phenotype is modulated not by genetic etiologic factors alone. In contrast, prognosis reflected genotype; near normal life expectancy is found in hypertrophic cardiomyopathy caused by the alpha-tropomyosin mutation Asp175Asn.     

New avalanche-injection-controlled switch

A new 3-terminal switching device, based on the avalanche-injection effect, is proposed. Its working principle is confirmed both by theoretical and experimental results. Experimental switching times of the order of a nanosecond have been observed.     

Near- and Far-Field Characterization of Planar mm-Wave Antenna Arrays with Waveguide-to-Microstrip Transition

We present the design and characterization of planar mm-wave patch antenna arrays with waveguide-to-microstrip transition using both near- and far-field methods. The arrays were designed for metrological assessment of error sources in antenna measurement. One antenna was designed for the automotive radar frequency range at 77 GHz, while another was designed for the frequency of 94 GHz, which is used, e.g., for imaging radar applications. In addition to the antennas, a simple transition from rectangular waveguide WR-10 to planar microstrip line on Rogers 3003? substrate has been designed based on probe coupling. For determination of the far-field radiation pattern of the antennas, we compare results from two different measurement methods to simulations. Both a far-field antenna measurement system and a planar near-field scanner with near-to-far-field transformation were used to determine the antenna diagrams. The fabricated antennas achieve a good matching and a good agreement between measured and simulated antenna diagrams. The results also show that the far-field scanner achieves more accurate measurement results with regard to simulations than the near-field scanner. The far-field antenna scanning system is built for metrological assessment and antenna calibration. The antennas are the first which were designed to be tested with the measurement system.     

Energy saving in existing buildings by an intelligent use of interoperable ICTs

In this paper, we report a methodology, developed in the context of Smart Energy Efficient Middleware for Public Spaces European Project, aimed at exploiting ICT monitoring and control services to reduce energy usage and CO₂ footprint in existing buildings. The approach does not require significant construction work as it is based on commercial-off-the-shelf devices and, where present, it exploits and integrates existing building management systems with new sensors and actuator networks. To make this possible, the proposed approach leverages upon the following main contributions: (a) to develop an integrated building automation and control system, (b) to implement a middleware for the energy-efficient buildings domain, (c) to provide a multi-dimensional building information modelling-based visualisation, and (d) to raise people’s awareness about energy efficiency. The research approach adopted in the project started with the selection, as case studies, of representative test and reference rooms in modern and historical buildings chosen for having different requirements and constraints in term of sensing and control technologies. Then, according to the features of the selected rooms, the strategies to reduce the energy consumptions were defined, taking into account the potential savings related to lighting, heating, ventilation, and air conditioning (HVAC) systems and other device loads (PC, printers, etc.). The strategies include both the control of building services and devices and the monitoring of environmental conditions and energy consumption. In the paper, the energy savings estimated through simulation, for both HVAC and lighting, are presented to highlight the potential of the designed system. After the implementation of the system in the demonstrator, results will be compared with the monitored data.     

Two-dimensional analysis of a test structure for lifetime profilemeasurements

A new electrical measurement technique has been proposed that allows one to obtain the “local” lifetime value in Si layers, by superposing ac measurements on a dc bias in a three-terminal test structure, and hence to extract a lifetime “profile” along the depth of the layer by varying the voltage bias. In this paper two-dimensional effects that could arise due to the lateral current flow in the test structure are studied, and are related to the modifications of the lifetime profile extracted. Both a simplified analysis and 2-D simulations of the test structure behavior allow one to explain the 2-D effects responsible for deviation of the lifetime profile from the correct one as dependent on the geometry of the test structure. Moreover design rules are given for the test structure, that keep the error in the profile extracted within safe limits     

Self-reported compliance with diabetes self-management during pregnancy

OBJECTIVE: The current study examined regimen compliance in pregnant women with pre-existing (overt) diabetes across multiple self-care tasks at three times during the pregnancy: mid-second, early third, and late third trimesters. METHOD: Forty-nine pregnant women with Type I (68%) or Type II (32%) diabetes completed measures to assess compliance with the diabetic regimen, major and minor life stressors, and social support for the diabetic regimen. RESULTS: Pregnant women with overt diabetes generally reported being compliant with their self-care regimen. There were, however, notable differences in reported compliance levels across different regimen tasks. Specifically, 74 to 79 percent of women reported being always compliant with dietary recommendations compared to 86 to 88 percent for insulin administration, 85 to 89 percent in managing insulin reactions, and 94 to 96 percent for glucose testing. Furthermore, stress in the form of major and minor life events and regimen-related social support were significantly related to self-reported compliance with dietary recommendations. There was no relationship between compliance and blood glucose levels. CONCLUSIONS: These findings suggest that psychiatric consultants focus on ways to increase social support as one means of improving compliance in pregnant women with diabetes.     

Pancreatic cancer. Analysis of 149 cases in our 17-year experience

The Authors analyse a series of 149 consecutive patients with carcinoma of the pancreas or the periampullary region. Curative surgical treatment was achievable in 55 patients, palliative procedures included surgery in 68 patients; biliary decompression with endoscopic or percutaneous procedure in 25 patients and chemotherapy in one patient with lymphoma. Perioperative complications consisted in gastroplegia (33%), pancreatic fistula (22%), biliary fistula (7.3%), abdominal abscess (5.5%) and hemoperitoneum (1.8%). Five patients died within 30 days after surgery (9%). The overall median postoperative survival was 37, 29 and 21 months in papillary, choledochal and pancreatic cancer, respectively.     

Thioethyl‐Porphyrazine/Nanocarbon Hybrids for Photoinduced Electron Transfer

A novel pyrene‐substituted thioethyl‐porphyrazine ( PzPy ) and the formation of supramolecular assembly with nanocarbons demonstrating photoinduced electron transfer ability are designed. As revealed by spectroscopic and electrochemical studies, PzPy displays wide spectral absorption in the visible range, charge separation upon photoexcitation, as well as bandgap and highest occupied/lowest unoccupied molecular orbital (HOMO/LUMO) energy values, matching the key requirements of organic optoelectronic. Moreover, the presence of a pyrene moiety promotes attractive interactions with π‐conjugated systems. In particular, theoretical calculations show that in the PzPy the HOMO and LUMO are localized on different positions of the molecule, i.e., the HOMO on the pyrene moiety and the LUMO on the macrocycle. Therefore, HOMO–LUMO excitation gives rise to a charge separation, preventing excitons recombination. Two kinds of noncovalent hybrid composites are prepared by mixing the PzPy with single‐wall carbon nanotubes (SWNTs) and graphene nanoflakes (GNFs), respectively, and used for photocurrent generation through charge transfer processes between PzPy and nanocarbons. Photoconduction experiments show photocurrent generation upon visible light irradiation of both PzPy /SWNT and PzPy /GNF composites (0.78 and 0.71 mA W^?1 at 500 nm, respectively), demonstrating their suitability for optoelectronic applications and light harvesting systems.     

Brief intervention for harm reduction with alcohol-positive older adolescents in a hospital emergency department.

This study evaluated the use of a brief motivational interview (MI) to reduce alcohol-related consequences and use among adolescents treated in an emergency room (ER) following an alcohol-related event. Patients aged 18 to 19 years (N?=?94) were randomly assigned to receive either MI or standard care (SC). Assessment and intervention were conducted in the ER during or after the patient's treatment. Follow-up assessments showed that patients who received the MI had a significantly lower incidence of drinking and driving, traffic violations, alcohol-related injuries, and alcohol-related problems than patients who received SC. Both conditions showed reduced alcohol consumption. The harm-reduction focus of the MI was evident in that MI reduced negative outcomes related to drinking, beyond what was produced by the precipitating event plus SC alone. (PsycINFO Database Record (c) 2010 APA, all rights reserved)