A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment

A 24-year old man was referred to the Erasmus MC Bone Center because of an asymptomatic increasing skull defect of the left parietal bone. The defect was first noticed at the age of six, and gradually increased over the years. His medical history was unremarkable, without any known trauma and a negative family history for bone diseases. Laboratory tests showed a low vitamin D level without other abnormalities. Particularly, there was no increase in markers of inflammation or bone turnover. CT-scans of the skull showed an osteolytic region of the parietal skull bone, with a two-centimeter increase in diameter over 9 years. Contrast enhanced MRI showed lymphangiogenic invasion, which was compatible with our suspicion of Gorham-Stout disease. The patient was referred to the neurosurgeon for treatment with a bone graft while considering additional drug treatment. Gorham-Stout or vanishing bone disease is a rare entity characterized by progressive osteolysis with lymphangiogenic bone invasion. Although already reported in 1838, currently the diagnosis and treatment of Gorham-Stout disease is still challenging. The underlying pathophysiology is not clarified yet and several theories exist. The disease usually affects persons younger than 40 years and the majority present with bone disease of the maxillofacial region, the upper extremities or the torso. The clinical presentation includes most frequently pain, swelling, and functional impairment of the affected region, but the disease can also be asymptomatic. Laboratory investigations are usually normal, and diagnosis is based upon imaging and sometimes pathology examination of affected bone tissue. Treatment is experimental and there is no general consensus about the best option due to lack of randomized controlled trials. Case reports showed patients treated with bisphosphonates, interferon-alpha, anti-VEGF therapy, mTOR inhibitors, and radiotherapy. There are some reports of surgery with prosthetic or bone grafts but no long-term follow-up data exist. This paper describes a unique case of Gorham-Stout disease of the parietal skull bone and discusses the current state of knowledge about this rare bone disease

Development and validation of the Religious Collective Self-Esteem scale for children

This study aimed to validate a Religious Collective Self-Esteem Scale (RCSES) that assesses children’s evaluations and judgments about their belonging to a religious group. The RCSES includes 3 subscales: Private Religious Self-Esteem (PrRSE), Public Religious Self-Esteem (PuRSE), and Importance to Religious Identity (RI). Data were gathered from students in 39 primary schools (9 Reformed Protestant, 9 Islamic, 3 Hindu and 18 public schools) across five regions in the Netherlands. Students were asked to complete an anonymous questionnaire containing measures of variables of interest. Subjects were 1,437 6th graders (Mage = 11.72, SD = 0.61; 51.7% girls. 680 Students identified themselves as Muslim (47.3%), 442 (30.8%) as Christian, 278 (19.3%) as Hindu, and 37 (2.6%) children had another religion. Results indicated sufficient internal consistency of RCSES (α = .80), PrRSE (α = .77), PuRSE (α = .73), and RI (α = .60), moderate to high correlations between the subscales and moderate to large test–retest reliability across 1 year (r = .57). Three-factor model fitted the best. Overall, findings support partial measurement and structural invariance across religious groups. Convergent validity was supported by small to moderate correlations with other scales (Individual Self-Esteem Scale, r = .29; Private Ethnic Self-Esteem Scale (PESES), r = .40). Divergent validity was supported by positive small significant correlations with school well-being (r = .18) and social school motivation (r = .19). RCSES and its subscales significantly predicted, over and above PESES, school well-being and school motivation scores. Findings support the reliability and validity of the RCSES for assessing religious collective self-esteem. (PsycINFO Database Record (c) 2017 APA, all rights reserved

Thirty years of research on Crown-of-Thorns Starfish (1986–2016): Scientific advances and emerging opportunities

Research on the coral-eating crown-of-thorns starfish (CoTS) has waxed and waned over the last few decades, mostly in response to population outbreaks at specific locations. This review considers advances in our understanding of the biology and ecology of CoTS based on the resurgence of research interest, which culminated in this current special issue on the Biology, Ecology and Management of Crown-of-Thorns Starfish. More specifically, this review considers progress in addressing 41 specific research questions posed in a seminal review by P. Moran 30 years ago, as well as exploring new directions for CoTS research. Despite the plethora of research on CoTS ( > 1200 research articles), there are persistent knowledge gaps that constrain effective management of outbreaks. Although directly addressing some of these questions will be extremely difficult, there have been considerable advances in understanding the biology of CoTS, if not the proximate and ultimate cause(s) of outbreaks. Moving forward, researchers need to embrace new technologies and opportunities to advance our understanding of CoTS biology and behavior, focusing on key questions that will improve effectiveness of management in reducing the frequency and likelihood of outbreaks, if not preventing them altogether

Enlarged NT (≥3.5 mm) in the first trimester - Not all chromosome aberrations can be detected by NIPT

__Background:__ Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. __Method:__ 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array. __Results:__ After invasive testing a chromosomal abnormality was detected in 137/362 (38 %) fetuses. 100/362 (28 %) cases concerned trisomy 21, 18 or 13, 25/362 (7 %) an aneuploidy of sex chromosomes and 3/362 (0.8 %) triploidy. In 6/362 (1.6 %) a pathogenic structural unbalanced chromosome aberration was seen and in 3/362 (0.8 %) a susceptibility locus for neurodevelopmental disorders was found. We estimated that in 2-10 % of fetuses with enlarged NT a chromosome aberration would be missed by current NIPT approaches. __Conclusion:__ Based on our cohort of fetuses with enlarged NT we may conclude that NIPT, depending on the approach, will miss chromosome aberrations in a significant percentage of pregnancies. Moreover all abnormal NIPT results require confirmatory studies with invasive testing, which will delay definitive diagnosis in ca. 30 % of patients. These figures are important for pretest counseling enabling pregnant women to make informed choices on the prenatal test. Larger cohorts of fetuses with an enlarged NT should be investigated to assess the additional diagnostic value of high resolution array testing for this indication

Quality control for the first large areas of triple-GEM chambers for the CMS endcaps

The CMS Collaboration plans to equip the very forward muon system with triple-GEM detectors that can withstand the environment of the High-Luminosity LHC.This project is at the final stages of R&D and moving to production. A large area of several 100 m 2 are to be instrumented with GEM detectors which will be produced in six different sites around the world. A common construction and quality control procedure is required to ensure the performance of each detector.The quality control steps will include optical inspection,cleaning and baking of all materials and parts used to build the detector,leakage current tests of the GEM foils,high voltage tests,gas leak tests of the chambers and monitoring pressures time,gain calibration to know the optimal operation region of the detector,gain uniformity tests, and studying the efficiency,noise and tracking performance of the detectors in a cosmic stand using scintillator

BNCI Horizon 2020 - Towards a Roadmap for Brain/Neural Computer Interaction

In this paper, we present BNCI Horizon 2020, an EU Coordination and Support Action (CSA) that will provide a roadmap for brain-computer interaction research for the next years, starting in 2013, and aiming at research efforts until 2020 and beyond. The project is a successor of the earlier EU-funded Future BNCI CSA that started in 2010 and produced a roadmap for a shorter time period. We present how we, a consortium of the main European BCI research groups as well as companies and end user representatives, expect to tackle the problem of designing a roadmap for BCI research. In this paper, we define the field with its recent developments, in particular by considering publications and EU-funded research projects, and we discuss how we plan to involve research groups, companies, and user groups in our effort to pave the way for useful and fruitful EU-funded BCI research for the next ten years