Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management

Floating-Harbor syndrome (FHS) is a rare, heritable disorder caused by variants in the SRCAP gene. Most individuals with FHS have characteristic facial features, short stature, and speech and language impairment. Although FHS has been likely under-diagnosed due to a combination of lack of recognition of the clinical phenotype and limited access to genomic testing, it is a rare condition with around 100 individuals reported in the medical literature. Case series have been biased towards younger individuals (vast majority <20 years of age) meaning that it has been challenging to provide accurate medical advice for affected individuals in adulthood. We report two young adults with FHS who presented with intracranial haemorrhage likely secondary to cerebrovascular aneurysms, with devastating consequences, making a total of four FHS patients reported with significant cerebrovascular abnormalities. Three of four patients had hypertension, at least one in conjunction with normal renal structure. We consider possible relationships between hypertension, renal pathology and aneurysms in the context of FHS, and consider mechanisms through which disruption of the SRCAP protein may lead to vascular pathology. We recommend that clinicians should have a low threshold to investigate symptoms suggestive of cerebrovascular disease in FHS. We advise that patients with FHS should have annual blood pressure monitoring from adolescence, renal ultrasound at diagnosis repeated in adulthood, and timely investigation of any neurological symptoms. For patients with FHS, particularly with hypertension, we advise that clinicians should consider at least one MRA (Magnetic Resonance Imaging with Angiography) to check for cerebral aneurysms

Academic attitudes toward new media: An exploratory multidisciplinary study

© 2016, Published with license by Taylor & Francis.This article looks at the attitudes of UK academics toward new media, utilizing organizational and sociocultural understandings of fields of scholarly enquiry. It focuses on four traditionally distinct disciplines—art and design, computer science, health science, and politics and international relations—representative of the range of approaches in higher education. Agreement was found among respondents across disciplinary communities about what new media represent and how they support their work. Analysis of semantic differential charts identified two dimensions underlying attitudes—“flexibility” and “fitness for scholarly purposes.” Rather than being anchored by epistemological divisions, new media are assessed by practical viewpoints relating to the activity types they allow, and by traditional measures of reliability. In response to questions about other characteristics of their disciplines (such as reputation and audience diversity), distinctions are in evidence, although in some cases these are not traditional ones

Ιστορική και πολεοδομική εξέλιξη της πόλης του Βερολίνου - Συγκριτική μελέτη αναβάθμισης υποβαθμισμένων περιοχών σε Αθήνα και Βερολίνο

130 σ.Αντικείμενο της διπλωματικής εργασίας είναι η ιστορική αναδρομή και πολεοδομική εξέλιξη της πόλης του Βερολίνου από την ίδρυσή της μέχρι σήμερα, όπως και η σύγκριση δύο πρώην υποβαθμισμένων περιοχών που αναβαθμίστηκαν τις τελευταίες δύο δεκαετίες, σε Βερολίνο και Αθήνα αντίστοιχα. Η περιγραφή αυτή έχει ως σκοπό την παρουσίαση της σπουδαιότητας και του ρόλου του Βερολίνου δια μέσου των αιώνων, την επισήμανση των πολιτικών, νομοθετικών και πολεοδομικών γεγονότων και εξελίξεων που έπαιξαν σημαντικό ρόλο στην πορεία του, καθώς και τον εντοπισμό ομοιοτήτων και διαφορών από την ανάλυση της σύγκρισης των δύο περιοχών μελέτης. Η παρούσα διπλωματική εργασία αποτελείται από έξι κεφάλαια. Στο Κεφάλαιο 1 δίνονται γενικές πληροφορίες για το Βερολίνο, περιγράφοντας τη γεωγραφική θέση και έκταση, το κλίμα, τον πληθυσμό, τα δημογραφικά στοιχεία και την διοικητική διαίρεση της πόλης. Στο Κεφάλαιο 2 παρουσιάζεται η ιστορική αναδρομή του Βερολίνου από την ίδρυση του το 1237 μέχρι και σήμερα, επισημαίνοντας τα σημαντικότερα ιστορικά γεγονότα. Στο Κεφάλαιο 3 αναλύονται πολεοδομικά σχέδια (Σχέδια Χρήσης Γης), που έπαιξαν σημαντικό ρόλο στην εξέλιξη του Βερολίνου, ως προς τον σκοπό, το περιεχόμενο και τις επιπτώσεις τους, περιγράφοντας παράλληλα την πολιτική, νομοθετική και πολεοδομική εξέλιξη της πόλης. Στο Κεφάλαιο 4 εξετάζεται η αναβάθμιση της περιοχή μελέτης Warschauer Straße του Βερολίνου. Στο Κεφάλαιο 5 εξετάζεται η αναβάθμιση της περιοχής μελέτης του Γκαζιού της Αθήνας. Στο Κεφάλαιο 6 περιλαμβάνονται τα συμπεράσματα και τα αποτελέσματα της σύγκρισης των δύο περιοχών μελέτης.Subject of the thesis is the historical overview and urban development of the city of Berlin from its foundation until today, as well as the comparison of two formerly degraded areas that have been upgraded over the past two decades, in Berlin and Athens respectively. This description is intended to show the importance and role of Berlin through the ages, highlight political, legislative and planning events and developments that played an important role in its course, and identify similarities and differences from the comparison analysis of the two study areas. This thesis consists of six chapters. Chapter 1 contains general information about Berlin, describing the geographical location and area, climate, population, demographics and administrative division of the city. Chapter 2 presents the historical overview of Berlin from its founding in 1237 until today, highlighting the most important historical events. In Chapter 3 we continue with the analysis of the aim, the contents, and the impact of urban plans (Land Use Plans), which played an important role in the evolution of Berlin, while describing the political, legislative and urban development of the city. Chapter 4 examines the upgrade of the study area Warschauer Straße, Berlin. Chapter 5 examines the upgrade of the study area of Gazi, Athens. Chapter 6 gives the conclusions and results of the comparison of the two study areas.Βασίλειος Σ. Βλάχο

Communicating future overheating risks to building design practitioners:Using the Low Carbon Futures tool

The Low Carbon Futures tool provides a probabilistic assessment of future overheating risks and cooling demands for domestic and nondomestic buildings in the UK. The approach adopted for the development of the Low Carbon Futures tool includes academic rigour within the development of the calculation engine, and also practitioner feedback throughout the process. This paper discusses the journey of the tool from modelling and simulation to the practitioner engagement, which took place by means of a questionnaire, focus groups and interviews with building design professionals aimed at understanding how the issue of overheating in buildings is being addressed. Throughout these events, the synergies between designing for low-carbon targets and designing for a future climate were explored. A final dissemination event was held to identify output styles that could be generated by the Low Carbon Futures tool that would be more practical and useful for specific client types. The workshop discussions serve to shape the outputs from the tool, and the feedback gathered will be used to inform a number of output styles, based on client type. Practical application: This paper outlines the development of the Low Carbon Futures tool for analysing overheating risks in buildings and discusses the practitioner feedback obtained from industry professionals on the use and applicability of the tool, in a final event hosted by the Low Carbon Futures research team in London. This event confirmed that practitioners need to be comfortable with the layout and format of the output in order to communicate its meaning and possible implications to a range of clients. A balanced output is required, which conveys some of the complexity of the underlying analysis, but which is easily understood and conveyed to a potentially lay audience. </jats:p