Thalassaemia: its diagnosis and interpretation in past skeletal populations

The diagnosis of thalassaemia in archaeological populations has long been hindered by a lack of pathogonomic features, and the non-specific nature of cribra orbitalia and porotic hyperostosis. In fact, clinical research has highlighted more specific diagnostic criteria for thalassaemia major and intermedia based on changes to the thorax (‘rib-within-a-rib’ and costal osteomas). A recent re-examination of 364 child skeletons from Romano-British Poundbury Camp, Dorset revealed children with general ‘wasting’ of the bones and three children who demonstrated a variety of severe lesions (e.g. zygomatic bone and rib hypertrophy, porotic hyperostosis, rib lesions, osteopenia and pitted diaphyseal shafts) that are inconsistent with dietary deficiency alone, and more consistent with a diagnosis of genetic anaemia. Two of these children displayed rib lesions typical of those seen in modern cases of thalassaemia. The children of Poundbury Camp represent the first cases of genetic anaemia identified in a British archaeological population. As thalassaemia is a condition strongly linked to Mediterranean communities, the presence of this condition in a child from England, found within a mausoleum, suggests that they were born to wealthy immigrant parents living in this small Roman settlement in Dorset. This paper explores the diagnostic criteria for genetic anaemia in the archaeological literature and what its presence in ancient populations can contribute to our knowledge of past human migration.

Adaptive alarm processor for fault diagnosis on power transmission networks

The authors describe a learning classifier system (LCS) which employs genetic algorithms (GA) for adaptive online diagnosis of power transmission network faults. The system monitors switchgear indications produced by a transmission network, reporting fault diagnoses on any patterns indicative of faulted components. The system evaluates the accuracy of diagnoses via a fault simulator developed by National Grid Co. and adapts to reflect the current network topology by use of genetic algorithms.

Low-order dynamical behavior in the martian atmosphere: Diagnosis of general circulation model results

The hypothesis of a low dimensional martian climate attractor is investigated by the application of the proper orthogonal decomposition (POD) to a simulation of martian atmospheric circulation using the UK Mars general circulation model (UK-MGCM). In this article we focus on a time series of the interval between autumn and winter in the northern hemisphere, when baroclinic activity is intense. The POD is a statistical technique that allows the attribution of total energy (TE) to particular structures embedded in the UK-MGCM time-evolving circulation. These structures are called empirical orthogonal functions (EOFs). Ordering the EOFs according to their associated energy content, we were able to determine the necessary number to account for a chosen amount of atmospheric TE. We show that for Mars a large fraction of TE is explained by just a few EOFs (with 90% TE in 23 EOFs), which apparently support the initial hypothesis. We also show that the resulting EOFs represent classical types of atmospheric motion, such as thermal tides and transient waves. Thus, POD is shown to be an efficient method for the identification of different classes of atmospheric modes. It also provides insight into the non-linear interaction of these modes.

Power transmission network simulation for fault diagnosis

The authors discuss an implementation of an object oriented (OO) fault simulator and its use within an adaptive fault diagnostic system. The simulator models the flow of faults around a power network, reporting switchgear indications and protection messages that would be expected in a real fault scenario. The simulator has been used to train an adaptive fault diagnostic system; results and implications are discussed.

Assessing behavioural manifestations prior to clinical diagnosis of Huntington disease: "anger and irritability" and "obsessions and compulsions"

The Functional Rating Scale Taskforce for pre-Huntington Disease (FuRST-pHD) is a multinational, multidisciplinary initiative with the goal of developing a data-driven, comprehensive, psychometrically sound, rating scale for assessing symptoms and functional ability in prodromal and early Huntington disease (HD) gene expansion carriers. The process involves input from numerous sources to identify relevant symptom domains, including HD individuals, caregivers, and experts from a variety of fields, as well as knowledge gained from the analysis of data from ongoing large-scale studies in HD using existing clinical scales. This is an iterative process in which an ongoing series of field tests in prodromal (prHD) and early HD individuals provides the team with data on which to make decisions regarding which questions should undergo further development or testing and which should be excluded. We report here the development and assessment of the first iteration of interview questions aimed to assess "Anger and Irritability" and "Obsessions and Compulsions" in prHD individuals.

Early detection of ovarian cancer in samples pre-diagnosis using CA125 and MALDI-MS peaks

Aim: A nested case-control discovery study was undertaken 10 test whether information within the serum peptidome can improve on the utility of CA125 for early ovarian cancer detection. Materials and Methods: High-throughput matrix-assisted laser desorption ionisation mass spectrometry (MALDI-MS) was used to profile 295 serum samples from women pre-dating their ovarian cancer diagnosis and from 585 matched control samples. Classification rules incorporating CA125 and MS peak intensities were tested for discriminating ability. Results: Two peaks were found which in combination with CA125 discriminated cases from controls up to 15 and 11 months before diagnosis, respectively, and earlier than using CA125 alone. One peak was identified as connective tissue-activating peptide III (CTAPIII), whilst the other was putatively identified as platelet factor 4 (PF4). ELISA data supported the down-regulation of PF4 in early cancer cases. Conclusion: Serum peptide information with CA125 improves lead time for early detection of ovarian cancer. The candidate markers are platelet-derived chemokines, suggesting a link between platelet function and tumour development.

Scope and constraint in the diagnosis of cluttering: combining two perspectives

A chapter outlining a theoretical position on the definition of the speech language disorder, cluttering.

The Empirical Forcing Function as a tool for the diagnosis of large-scale atmospheric anomalies

The time-mean quasi-geostrophic potential vorticity equation of the atmospheric flow on isobaric surfaces can explicitly include an atmospheric (internal) forcing term of the stationary-eddy flow. In fact, neglecting some non-linear terms in this equation, this forcing can be mathematically expressed as a single function, called Empirical Forcing Function (EFF), which is equal to the material derivative of the time-mean potential vorticity. Furthermore, the EFF can be decomposed as a sum of seven components, each one representing a forcing mechanism of different nature. These mechanisms include diabatic components associated with the radiative forcing, latent heat release and frictional dissipation, and components related to transient eddy transports of heat and momentum. All these factors quantify the role of the transient eddies in forcing the atmospheric circulation. In order to assess the relevance of the EFF in diagnosing large-scale anomalies in the atmospheric circulation, the relationship between the EFF and the occurrence of strong North Atlantic ridges over the Eastern North Atlantic is analyzed, which are often precursors of severe droughts over Western Iberia. For such events, the EFF pattern depicts a clear dipolar structure over the North Atlantic; cyclonic (anticyclonic) forcing of potential vorticity is found upstream (downstream) of the anomalously strong ridges. Results also show that the most significant components are related to the diabatic processes. Lastly, these results highlight the relevance of the EFF in diagnosing large-scale anomalies, also providing some insight into their interaction with different physical mechanisms.

Wavelet-based ULF wave diagnosis of substorm expansion phase onset

Using a discrete wavelet transform with a Meyer wavelet basis, we present a new quantitative algorithm for determining the onset time of Pi1 and Pi2 ULF waves in the nightside ionosphere with ∼20- to 40-s resolution at substorm expansion phase onset. We validate the algorithm by comparing both the ULF wave onset time and location to the optical onset determined by the Imager for Magnetopause-to-Aurora Global Exploration (IMAGE)–Far Ultraviolet Imager (FUV) instrument. In each of the six events analyzed, five substorm onsets and one pseudobreakup, the ULF onset is observed prior to the global optical onset observed by IMAGE at a station closely conjugate to the optical onset. The observed ULF onset times expand both latitudinally and longitudinally away from an epicenter of ULF wave power in the ionosphere. We further discuss the utility of the algorithm for diagnosing pseudobreakups and the relationship of the ULF onset epicenter to the meridians of elements of the substorm current wedge. The importance of the technique for establishing the causal sequence of events at substorm onset, especially in support of the multisatellite Time History of Events and Macroscale Interactions During Substorms (THEMIS) mission, is also described.

'Doctor, Doctor...' entrepreneurial diagnosis and market making

Doctor-patient jokes are universally popular because of the information asymmetries within the diagnostic relationship. We contend that entrepreneurial diagnosis is present in markets where consumers are unable to diagnose their own problems and, instead, may rely on the entrepreneur to diagnose them. Entrepreneurial diagnosis is a cognitive skill possessed by the entrepreneur. It is an identifiable subset of entrepreneurial judgment and can be modeled – which we attempt to do. In order to overcome the information asymmetries and exploit opportunities, we suggest that entrepreneurs must invest in market making innovations (as distinct from product innovations) such as trustworthy reputations. The diagnostic entrepreneur described in this paper represents a creative response to difficult diagnostic problems and helps to explain the success of many firms whose products are not particularly innovative but which are perceived as offering high standards of service. These firms are trusted not only for their truthfulness about the quality of their product, but for their honesty, confidentiality and understanding in helping customers identify the most appropriate product to their needs.

Towards the computer-aided diagnosis of dementia based on the geometric and network connectivity of structural MRI data

We present an intuitive geometric approach for analysing the structure and fragility of T1-weighted structural MRI scans of human brains. Apart from computing characteristics like the surface area and volume of regions of the brain that consist of highly active voxels, we also employ Network Theory in order to test how close these regions are to breaking apart. This analysis is used in an attempt to automatically classify subjects into three categories: Alzheimer’s disease, mild cognitive impairment and healthy controls, for the CADDementia Challenge.