Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation

How to capture that business value everyone talks about? : An exploratory case study on business value in agile big data analytics organizations

Background: Big data analytics has been referred to as a hype the past decade, making manyorganizations adopt data-driven processes to stay competitive in their industries. Many of theorganizations adopting big data analytics use agile methodologies where the most importantoutcome is to maximize business value. Multiple scholars argue that big data analytics lead toincreased business value, however, there is a theoretical gap within the literature about how agileorganizations can capture this business value in a practically relevant way. Purpose: Building on a combined definition that capturing business value means being able todefine-, communicate- and measure it, the purpose of this thesis is to explore how agileorganizations capture business value from big data analytics, as well as find out what aspects ofvalue are relevant when defining it. Method: This study follows an abductive research approach by having a foundation in theorythrough the use of a qualitative research design. A single case study of Nike Inc. was conducted togenerate the primary data for this thesis where nine participants from different domains within theorganization were interviewed and the results were analysed with a thematic content analysis. Findings: The findings indicate that, in order for agile organizations to capture business valuegenerated from big data analytics, they need to (1) define the value through a synthezised valuemap, (2) establish a common language with the help of a business translator and agile methods,and (3), measure the business value before-, during- and after the development by usingindividually idenified KPIs derived from the business value definition

The Era of Artificial Intelligence in Swedish Banking : Exploring Customer Attitudes Towards AI as a Substitute to Brick and Mortar Offices

Background: The wave of Artificial Intelligence (AI) is marching on, replacing jobs and traditional services, and is predicted to be one of the biggest marketing trends in the close future. Four of the major Swedish banks have started to implement AI as a customer service channel. Simultaneously, the Swedish banking industry is experiencing an all-time low in customer satisfaction, where one of the main reasons is the diminishing number of local branches. Purpose: The purpose of this thesis is to explore the attitudes that customers have towards AI in customer service, as a substitute to local brick and mortar offices within the Swedish bank industry, as well as uncover any significant factors that could influence these attitudes. Method: This is a qualitative study of exploratory nature where five focus groups have been used to collect empirical data. A total sample of 26 participants, ranging from 20-55 years old, have partaken in the focus groups.  Conclusion: Findings show that there mainly exists a negative attitude towards AI as a substitute to brick-and-mortar offices, but positive attitudes towards it as a complement. Factors that influence the attitudes were found to be Convenience, Perceived Usefulness, Perceived Ease of Use, Trust, Risk and Social influence. Awareness and Prior Technological Experience were found to not have great influence on customer attitudes

β-amyloid pathology and hippocampal atrophy are independently associated with memory function in cognitively healthy elderly

The independent effects of different brain pathologies on age-dependent cognitive decline are unclear. We examined this in 300 cognitively unimpaired elderly individuals from the BioFINDER study. Using cognition as outcome we studied the effects of cerebrospinal fluid biomarkers for amyloid-β (Aβ42/40), neuroinflammation (YKL-40), and neurodegeneration and tau pathology (T-tau and P-tau) as well as MRI measures of white-matter lesions, hippocampal volume (HV), and regional cortical thickness. We found that Aβ positivity and HV were independently associated with memory. Results differed depending on age, with memory being associated with HV (but not Aβ) in older participants (73.3-88.4 years), and with Aβ (but not HV) in relatively younger participants (65.2-73.2 years). This indicates that Aβ and atrophy are independent contributors to memory variability in cognitively healthy elderly and that Aβ mainly affects memory in younger elderly individuals. With advancing age, the effect of brain atrophy overshadows the effect of Aβ on memory function

Regular Expression Patterns

We extend Haskell with regular expression patterns. Regular expression patterns provide means for matching and extracting data which goes well beyond ordinary pattern matching as found in Haskell. It has proven useful for string manipulation and for processing structured data such as XML. Regular expression patterns can be used with arbitrary lists, and work seamlessly together with ordinary pattern matching in Haskell. Our extension is lightweight, it is little more than syntactic sugar. We present a semantics and a type system, and show how to implement it as a preprocessor to Haskell

Folding Domain−Specific Languages: Deep and Shallow Embeddings

A domain-specific language can be implemented by embedding within a general-purpose host language. This embedding may be deep or shallow, depending on whether terms in the language construct syntactic or semantic representations. The deep and shallow styles are closely related, and intimately connected to folds; in this paper, we explore that connection

Formalising Executable Specifications of Low-Level Systems

International audienceFormal models of low-level applications rely often on the distinction between executable layer and underlying hardware abstraction. This is also the case for the model of Pip, a separation kernel formalised and verified in Coq using a shallow embedding. DEC is a deeply embedded imperative typed language with primitive recursion and specified in terms of small-step semantics, which we developed in Coq as a reified counterpart of the shallow embedding used for Pip. In this paper, we introduce DEC and its semantics, we present its interpreter based on the type soundness proof and extracted to Haskell, we introduce a Hoare logic to reason about DEC code, and we use this logic to verify properties of Pip as a case study, comparing the new proofs with those based on the shallow embedding. Notably DEC can import shallow specifications as external functions, thus allowing for reuse of the abstract hardware model