224 research outputs found
From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders
BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other midline CNS, urogenital & hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at ...postprin
Situs inversus totalis in a fetus with a deletion at 7q36.2 detected on microarray analysis
Laterality disorders are a heterogeneous group of disorders associated with maternal diseases (maternal IDDM), maternal exposures to teratogens (retinoic acid), chromosome abnormalities and single gene disorders (ZIC3 mutation). We report on a fetus with a submicroscopic deletion at 7q36.2 with right atrial isomerism (RAI). CASE: The mother was a 30y G4P1SA2L1 and the father was 35y. Both were healthy and non-consanguineous and their family history was non-contributory. They had a healthy son and daughter and had two miscarriages. MSS was negative. Detailed fetal U/S and echocardiography at 20w showed: RAI with ...postprin
Assessing the Proposed IAM, UAW, and USW Merger: Critical Issues and Potential Outcomes
[Excerpt] We examine the many difficult issues facing the IAM, UAW, and USW as they move toward the creation of a single organization. In order to place this merger in con- text, the larger issue of mergers in the American labor movement will be addressed, as will the origins and history of each of the three unions. The specific issues confronting the unions will be examined in three categories — structure, administration, and functions and services. We conclude with an assessment of the current status of the unification effort and the prospects for its realization
What Are You Looking At? Team Fight Prediction Through Player Camera
Esport is a large and still growing industry with vast audiences. Multiplayer Online Battle Arenas (MOBAs), a sub-genre of esports, possess a very complex environment, which often leads to experts missing important coverage while broadcasting live competitions. One common game event that holds significant importance for broadcasting is referred to as a team fight engagement. Professional player's own knowledge and understanding of the game may provide a solution to this problem. This paper suggests a model that predicts and detects ongoing team fights in a live scenario. This approach outlines a novel technique of deriving representations of a complex game environment by relying on player knowledge. This is done by analysing the positions of the in-game characters and their associated cameras, utilising this data to train a neural network. The proposed model is able to both assist in the production of live esport coverage as well as provide a live, expert-derived, analysis of the game without the need of relying on outside sources
Spatio-temporal changes in chimpanzee density and abundance in the Greater Mahale Ecosystem, Tanzania
Authors would like to acknowledge the Arcus Foundation, Jane Goodall Institute, United States Agency for International Development (USAID), National Aeronautics and Space Administration (NASA), The Nature Conservancy, and Frankfurt Zoological Society for supporting, facilitating, and funding this work.Species conservation and management require reliable information about animal distribution and population size. Better management actions within a species' range can be achieved by identifying the location and timing of population changes. In the Greater Mahale Ecosystem (GME), western Tanzania, deforestation due to the expansion of human settlements and agriculture, annual burning, and logging are known threats to wildlife. For one of the most charismatic species, the Endangered eastern chimpanzee (Pan troglodytes schweinfurthii), about 75% of the individuals are distributed outside national park boundaries, requiring monitoring and protection efforts over a vast landscape of various protection statuses. These efforts are especially challenging when we lack data on trends in density and population size. To predict spatio-temporal chimpanzee density and abundance across the GME, we employed density surface modelling, fitting a generalised additive model to a ten-year time series data set of nest counts based on line transect surveys. Chimpanzee population declined at an annual rate of 2.41%, including declines of 1.72% in riparian forests (hereafter forests), 2.05% in miombo-woodlands (hereafter woodlands) and 3.45% in non-forests. These population declines were accompanied by ecosystem-wide declines in vegetation types of 1.36% and 0.32% per year for forests and woodlands, respectively; we estimated an annual increase of 1.35% for non-forests. Our model predicted the highest chimpanzee density in forests (0.86 chimpanzees/km2, 95% CI 0.60-1.23; as of 2020), followed by woodlands (0.19, 95% CI 0.12-0.30) and non-forests (0.18, 95% CI 0.10-1.33). Although forests represent only 6% of the landscape, they support nearly a quarter of the chimpanzee population (769 chimpanzees, 95% CI 536-1,103). Woodlands dominate the landscape (71%) and thus support more than a half of the chimpanzee population (2,294; 95% CI 1,420-3,707). The remaining quarter of the landscape is represented by non-forests and supports another quarter of the chimpanzee population (750; 95% CI 408-1,381). Given the pressures on the remaining suitable habitat in Tanzania and the need of chimpanzees to access both forest and woodland vegetation to survive, we urge future management actions to increase resources and expand the efforts to protect critical forest and woodland habitat and promote strategies and policies that more effectively prevent irreversible losses. We suggest that regular monitoring programmes implement a systematic random design to effectively inform and allocate conservation actions and facilitate inter-annual comparisons for trend-monitoring, measuring conservation success and guiding adaptive management.Publisher PDFPeer reviewe
Prenatal diagnosis of scalp congenital hemangiopericytoma
Hemangiopericytoma (HPC) is a rare form of vascular tumour. It consists of extensive proliferation of pericapillary cells (pericytes). The most common locations are the head and neck, lower extremities and retroperitoneum. HPC can be benign or malignant. Malignant HPC can metastasize to other areas of the body, usually to the lungs. Up to 5-10% HPCs present in childhood and 5-40% occur in the 1st year of life. We report a fetal case of HPC presenting as an ultrasound finding of a forehead mass. CASE: The proband was a 23y P1 Caucasian woman and her husband was 22y and of same descent. The couple was healthy and non-consanguineous. Early fetal ultrasounds werepostprin
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. METHODS: Through ongoing collaboration, we had collected patients with strikingly-similar phenotype. Trio-based exome sequencing was first performed in Patient 2 through Deciphering Developmental Disorders study. Proband-only exome sequencing had previously been independently performed in Patient 4. Following identification of a candidate gene variant in Patient 2, the same variant was subsequently confirmed from exome data in Patient 4. Sanger sequencing was used to validate this variant in Patients 1, 3; confirm paternal inheritance in Patient 5. RESULTS: A recurrent, novel variant NM_006494.2:c.266A>G p.(Tyr89Cys) in ERF was identified in five affected individuals: de novo (patient 1, 2 and 3) and inherited from an affected father (patient 4 and 5). p.Tyr89Cys is an aromatic polar neutral to polar neutral amino acid substitution, at a highly conserved position and lies within the functionally important ETS-domain of the protein. The recurrent ERF c.266A>C p.(Tyr89Cys) variant causes Chitayat syndrome. DISCUSSION: ERF variants have previously been associated with complex craniosynostosis. In contrast, none of the patients with the c.266A>G p.(Tyr89Cys) variant have craniosynostosis. CONCLUSIONS: We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF
Using Drones to Determine Chimpanzee Absences at the Edge of Their Distribution in Western Tanzania
Effective species conservation management relies on detailed species distribution data. For many species, such as chimpanzees (Pan troglodytes), distribution data are collected during ground surveys. For chimpanzees, such ground surveys usually focus on detection of the nests they build instead of detection of the chimpanzees themselves due to their low density. However, due to the large areas they still occur in, such surveys are very costly to conduct and repeat frequently to monitor populations over time. Species distribution models are more accurate if they include presence as well as absence data. Earlier studies used drones to determine chimpanzee presence using nests. In this study, therefore, we explored the use of drones to determine the absence of chimpanzee nests in areas we flew over on the edge of the chimpanzee distribution in western Tanzania. We conducted 13 flights with a fixed-wing drone and collected 3560 images for which manual inspection took 180 h. Flights were divided into a total of 746 25 m2 plots for which we determined the absence probability of nests. In three flights, we detected nests, in eight, absence was assumed based on a 95% probability criterion, and in two flights, nest absence could not be assumed. Our study indicates that drones can be used to cover relatively large areas to determine the absence of chimpanzees. To fully benefit from the usage of drones to determine the presence and absence of chimpanzees, it is crucial that methods are developed to automate nest detection in images
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