Libyan Boy with Autosomal Recessive Trait (P22-phox Defect) of Chronic Granulomatous Disease

Chronic granulomatous disease (CGD) is a primary immune deficiency disorder of the phagocytes. In this disorder, phagocytic cells (polymorphonuclear leukocytes and monocytes) cannot produce active oxygen metabolites and, therefore, cannot destroy the ingested intracellular bacteria. Clinically, patients with CGD usually have recurrent bacterial and fungal infections causing abscess and granuloma formation in the skin, lymph nodes and visceral organs

Development of Lithium Deposition Techniques for TFTR

The ability to increase the quantity of lithium deposition into TFTR beyond that of the Pellet Injector while minimizing perturbations to the plasma provides interesting experimental and operational options. Two additional lithium deposition tools were developed for possible application during the 1996 Experimental Schedule: a solid lithium target probe for real-time deposition, and a lithium effusion oven for deposition between discharges. The lithium effusion oven was operated in TFTR to deposit lithium on the Inner Limiter in the absence of plasma. This resulted in the third highest power TFTR discharge

Do female association preferences predict the likelihood of reproduction?

Sexual selection acting on male traits through female mate choice is commonly inferred from female association preferences in dichotomous mate choice experiments. However, there are surprisingly few empirical demonstrations that such association preferences predict the likelihood of females reproducing with a particular male. This information is essential to confirm association preferences as good predictors of mate choice. We used green swordtails (<i>Xiphophorus helleri</i>) to test whether association preferences predict the likelihood of a female reproducing with a male. Females were tested for a preference for long- or short-sworded males in a standard dichotomous choice experiment and then allowed free access to either their preferred or non-preferred male. If females subsequently failed to produce fry, they were provided a second unfamiliar male with similar sword length to the first male. Females were more likely to reproduce with preferred than non-preferred males, but for those that reproduced, neither the status (preferred/non-preferred) nor the sword length (long/short) of the male had an effect on brood size or relative investment in growth by the female. There was no overall preference based on sword length in this study, but male sword length did affect likelihood of reproduction, with females more likely to reproduce with long- than short-sworded males (independent of preference for such males in earlier choice tests). These results suggest that female association preferences are good indicators of female mate choice but that ornament characteristics of the male are also important

(q) as a sociolinguistic variable in the Arabic of Gaza City

This study examines the effect of dialect contact between the indigenous residents of Gaza City and refugees originally from the city of Jaffa. The study offers a quantitative sociolinguistic investigation of the variable (q) in the speech of 22 residents of Gaza City. The sample is divided along the lines of dialect background and gender, and it is separated into three age groups. Analysis of the data has revealed that for (q) a significant correlation exists with dialect background and gender, with female speakers and speakers of a Jaffa dialect background showing the highest tendencies to favor the glottal [ʔ] realization for (q). Male speakers in the sample, regardless of their dialect background, showed a tendency to favor the localized [g] realization of (q)

Alliance or acquisition? A mechanisms‐based, policy‐capturing analysis

Research summary: While alliance researchers view prior partner‐specific alliance experience as influencing firms' subsequent alliance or acquisition decisions, empirical evidence on the alliance versus acquisition decision is surprisingly mixed. We offer a reconciliation by proposing and testing an analytical framework that recognizes prior partner‐specific experiences as heterogeneous along three fundamental dimensions: partner‐specific trust, routines, and value certainty. This allows us to use a policy‐capturing methodology to rigorously operationalize and test our mechanism‐level predictions. We find that all three mechanisms can increase the likelihood of a subsequent alliance or acquisition, and in terms of the comparative choice between alliances versus acquisitions, partner‐specific trust pulls towards alliances, and value certainty pulls towards acquisitions. We conclude with a discussion of the theoretical and empirical implications of our approach and method. Managerial summary: This study focuses on an important corporate decision: When a firm has had an alliance with another firm, how would that experience affect the likelihood of a future alliance or acquisition with that same firm? We first suggest that it will depend on three factors: the level of trust that existed in that prior alliance, the extent to which specific work routines were developed, and the degree to which the firm was able to confidently assess the value of the partner firm's resources. We then find that trust is a particularly strong predictor of future alliances, while confidence regarding value more strongly predicts future acquisitions. In this way, we demonstrate more precisely how past corporate choices can affect (consciously or unconsciously) future ones

Airspace Technology Demonstration 2 (ATD-2) Technology Description Document (TDD)

This Technology Description Document (TDD) provides an overview of the technology for the Phase 1 Baseline Integrated Arrival, Departure, and Surface (IADS) prototype system of the National Aeronautics and Space Administration's (NASA) Airspace Technology Demonstration 2 (ATD-2) project, to be demonstrated beginning in 2017 at Charlotte Douglas International Airport (CLT). Development, integration, and field demonstration of relevant technologies of the IADS system directly address recommendations made by the Next Generation Air Transportation System (NextGen) Integration Working Group (NIWG) on Surface and Data Sharing and the Surface Collaborative Decision Making (Surface CDM) concept of operations developed jointly by the Federal Aviation Administration (FAA) and aviation industry partners. NASA is developing the IADS traffic management system under the ATD-2 project in coordination with the FAA, flight operators, CLT airport, and the National Air Traffic Controllers Association (NATCA). The primary goal of ATD-2 is to improve the predictability and operational efficiency of the air traffic system in metroplex environments, through the enhancement, development, and integration of the nation's most advanced and sophisticated arrival, departure, and surface prediction, scheduling, and management systems. The ATD-2 project is a 5-year research activity beginning in 2015 and extending through 2020. The Phase 1 Baseline IADS capability resulting from the ATD-2 research will be demonstrated at the CLT airport beginning in 2017. Phase 1 will provide the initial demonstration of the integrated system with strategic and tactical scheduling, tactical departure scheduling to an en route meter point, and an early implementation prototype of a Terminal Flight Data Manager (TFDM) Electronic Flight Data (EFD) system. The strategic surface scheduling element of the capability is consistent with the Surface CDM Concept of Operations published in 2014 by the FAA Surface Operations Directorate

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing. Immunoblotting, in vitro enzymatic assay, and label-free shotgun proteomic profiling were performed in the patient's fibroblasts. RESULTS: The predominant clinical presentation of the patient was a childhood onset, asymmetric progressive multifocal motor neuropathy. In addition, he presented with macrocephaly, autism spectrum disorder, and skin hamartomas, considered as clinical criteria for PTEN-related hamartoma tumor syndrome. Extensive tumor screening did not detect any malignancies. We detected a novel de novo heterozygous c.269T>C, p.(Phe90Ser) PTEN variant, which was absent in both parents. The pathogenicity of the variant is supported by altered expression of several PTEN-associated proteins involved in tumorigenesis. Moreover, fibroblasts showed a defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4-trisphosphate. In support of our findings, focal hypermyelination leading to peripheral neuropathy has been reported in PTEN-deficient mice. CONCLUSION: We describe a novel phenotype, PTEN-associated multifocal demyelinating motor neuropathy with a skin hamartoma syndrome. A similar mechanism may potentially underlie other forms of Charcot-Marie-Tooth disease with involvement of the phosphatidylinositol pathway

The SNAPSHOT study protocol : SNAcking, Physical activity, Self-regulation, and Heart rate Over Time

Peer reviewedPublisher PD

How physicians perceive and utilize information from a teratogen information service: The Motherisk Program

BACKGROUND: Teratogen information services have been developed around the world to disseminate information regarding the safety of maternal exposures during pregnancy. The Motherisk Program in Toronto, Canada, fields thousands of these inquiries per year. Our primary objective was to evaluate the perception and utilization of information received from us by physicians. Our secondary objective was to examine their information seeking behavior, in particular regarding teratogen information. METHODS: A one page survey was sent to physicians who had called Motherisk for information concerning pregnancy exposures in the previous 30 days for three months. Among the questions that were asked were demographics, which included gender, years in practice, specialty, information resources, and how they utilized the information received from Motherisk. RESULTS: We received 118/200 completed questionnaires (59% response rate). The mean age of the respondents was: 42 ± 9 years, mean years of practice was: 14 ± 8 years, males: 46(38%) and females 72(62%) and 95(80%) were family physicians. 56(48%) researched their question prior to calling Motherisk, 106(91%) and passed on the information received to their patient verbatim. The top four resources for information were: 1) The CPS (PDR), 2) textbooks, 3) journals and 4) colleagues. Only 8% used the Medline for gathering information. CONCLUSIONS: Physicians feel that a teratogen information service is an important component in the management of women exposed to drugs, chemicals, radiation and infections diseases etc. during pregnancy. Despite the advent of the electronic age, a minority of the physicians in our survey elected to use electronic means to seek information