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Biomedical subjects

P Hammond

Publications and source records attributed to P Hammond.

At least 19 recordsLinked to original sources

Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.

BACKGROUND: Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly syndrome characterised by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioural problems, and malformations of the upper extremities. Recently mutations in NIPBL, the human homologue of the Drosophila Nipped-B gene, were found to cause CdLS. Mutations have been found in 39% of reported cases. METHODS: Patients were enrolled in the study and classified into one of four groups based on clinical examination: classic, mild, possible, or definitively not CdLS. Three dimensional photography was taken of 20 subjects, and compared between groups. Behaviour was assessed with specific attention to autism. We searched for mutations in NIPBL and correlated genotype with phenotype. RESULTS: : We found mutations in 56% of cases. CONCLUSIONS: Truncating mutations were generally found to cause a more severe phenotype but this correlation was not absolute. Three dimensional facial imaging demonstrated the potential for classifying facial features. Behavioural problems were highly correlated with the level of adaptive functioning, and also included autism. No correlation of behaviour with the type of mutation was found.

Autistic Disorder↗

Perceptions of facial aesthetics in two and three dimensions.

The aims of this study were to investigate whether the preferred facial relationship chosen by professionals and the general public is Class I and to ascertain whether viewing two-dimensional (2D) or three-dimensional (3D) images had any effect on the ranking of facial attractiveness. Orthodontists (n = 47), maxillofacial surgeons (n = 25) and members of the general public (n = 78) assessed 2D and 3D facial scans of two males and two females that had been morphed to produce five images reflecting different skeletal patterns: Class I, mild and moderate Class II, and mild and moderate Class III. Each assessor placed the images in rank order of preference, after viewing alternate 2D and 3D image formats for each face. The data were analysed using logistic regression. In 2D, professionals (orthodontists and maxillofacial surgeons) chose Class I as the preferred facial image more frequently than the general public for only one of the four faces. However, in 3D format they chose Class I as the preferred facial image for some subject faces more, and others less, frequently when compared with the general public. The gender of the assessor was not significant when assessing the preferred facial relationship for Class I images in either 2D or 3D formats. The oldest assessors (56+ years) were significantly less likely than the younger age groups to select Class I as the preferred facial relationship in both 2D and 3D. In summary, there was too great a degree of variation to say that a difference between 2D and 3D facial images was evident.

Adolescent↗

Experimental determination of the lifetime for the 2p3d(1P0) helium doubly excited state.

Two recent theoretical studies [C. Liu, Phys. Rev. A 64, 010501 (2001)]; M. Zitnik, ibid. 65, 032520 (2002)]] predict that the fluorescence lifetimes of helium doubly excited states converging to He+ N=2 should be longer than that of the He+ 2p ion state. This effect is caused by the electric field of the outer electron which, through Stark mixing, gives the inner fluorescing electron some series specific, stabilizing 2s character. We have obtained the first experimental evidence that confirms this effect by measuring the lifetime of the 2p3d(1P0) doubly excited state. This was determined to be 190+/-30 ps compared to 100 ps for the He+ 2p ion state. The measurements were performed using short pulses of synchrotron radiation to form doubly excited states and recording the arrival time of photons from fluorescence.

Journal Article↗

Decision support tools for clinical trial design.

Many published clinical trials are poorly designed, suggesting that the protocol was incomplete, disorganised, or contained errors. This fact motivated the development of a suite of decision support tools for the design of randomised controlled clinical trials. In this paper we describe these tools, discussing both underlying theoretical issues and usage of the tools. The core tool--Design-a-Trial (DaT)--critiques data entered so as to guide design of a scientifically and ethically sound trial. DaT outputs a text protocol describing the trial, and a corresponding symbolic representation. Linked to DaT is a tool for authoring plans that form part of the trial. A key feature of this tool is the provision of macros for describing commonly occurring plan constructs. We describe another linked tool which generates solutions to Prolog queries requesting advice on how a plan should be revised so as to comply with safety and efficacy requirements. The user is able to navigate a path through the solution search space by interacting with natural language representations of the Prolog sub-goals. This provides the flexibility to generate useful and informative partial solutions, symbolic and textual, for inclusion in the symbolic plan representation and protocol document, respectively.

Clinical Trials as Topic↗

Computational models of oral and craniofacial development, growth, and repair.

This paper illustrates how biological and clinical problems stimulate research in biomedical informatics and how such research contributes to their solution. The computational models described use techniques from Logic Programming, Machine Learning, Computer Vision, and Biomathematics. They address problems in the development, growth, and repair of oral and craniofacial tissues arising in cell biology, clinical genetics, and dentistry. At the micro-level, the dynamic interaction of cells in the oral epithelium is modeled. At the macro-level, models are constructed of either the craniofacial shape of an individual or the craniofacial shape differences within and between healthy and congenitally abnormal populations. In between, in terms of scale, there are models of normal dentition and the use of computerized expert knowledge to guide the design of dental prostheses used to restore function in partially edentulous patients.

Adult↗

Combining biometric and symbolic models for customized, automated prosthesis design.

In a previous paper [Artif. Intell. Med. 5 (1993) 431] we described RaPiD, a knowledge-based system for designing dental prostheses. The present paper discusses how RaPiD has been extended using techniques from computer vision and logic grammars. The first employs point distribution and active shape models (ASMs) to determine dentition from images of casts of patient's jaws. This enables a design to be customized to, and visualised against, an image of a patient's dentition. The second is based on the notion of a path grammar, a form of logic grammar, to generate a path linking an ordered sequence of subcomponents. The shape of an important and complex prosthesis component can be automatically seeded in this fashion. Combining these models now substantially automates the design process, beginning with a photograph of a dental cast and ending with an annotated and validated design diagram ready to guide manufacture.

Anthropometry↗

Observation of triplet doubly excited states in single photon excitation from ground state helium.

We have observed, for the first time, LS-forbidden triplet doubly excited states, in single photon excitation of ground state helium, below the second ionization threshold. These states are identified as (3)D(o) and (3)P(o) and their excitation is due to spin-orbit interaction that mixes them with the optically allowed (1)P(o) states. This observation is possible due to the very high efficiency in detecting metastable atoms created after the fluorescence decay of the doubly excited states, and the new capabilities of third generation synchrotron vacuum ultraviolet sources with high resolution beam lines.

Journal Article↗

Tooth preparation.

This final article in the series describes the modification of teeth to improve their shape for the support and retention of RPDs.

Denture, Partial, Removable↗

Initial prosthetic treatment.

This article describes measures designed to provide short-term solutions to existing RPD problems and to establish an optimum oral environment for the provision of definitive prostheses.

Denture Rebasing↗

Connectors.

This article describes the types and functions of connectors for RPDS. It also considers the relative merits and limitations of these connectors.

Acrylic Resins↗

Indirect retention.

This article explains the mechanism of indirect retention for RPDs and discusses the factors which determine its effectiveness. Examples are given of designs which incorporate indirect retention.

Dental Abutments↗

Clasp design.

Explore the source record for details and available documents.

Dental Clasps↗

Classifying vertical facial deformity using supervised and unsupervised learning.

OBJECTIVES: To evaluate the potential for machine learning techniques to identify objective criteria for classifying vertical facial deformity. METHODS: 19 parameters were determined from 131 lateral skull radiographs. Classifications were induced from raw data with simple visualisation, C5.0 and Kohonen feature maps; and using a Point Distribution Model (PDM) of shape templates comprising points taken from digitised radiographs. RESULTS: The induced decision trees enable a direct comparison of clinicians' idiosyncrasies in classification. Unsupervised algorithms induce models that are potentially more objective, but their blackbox nature makes them unsuitable for clinical application. The PDM methodology gives dramatic visualisations of two modes separating horizontal and vertical facial growth. Kohonen feature maps favour one clinician and PDM the other. Clinical response suggests that while Clinician 1 places greater weight on 5 of 6 parameters, Clinician 2 relies on more parameters that capture facial shape. CONCLUSIONS: While machine learning and statistical analyses classify subjects for vertical facial height, they have limited application in their present form. The supervised learning algorithm C5.0 is effective for generating rules for individual clinicians but its inherent bias invalidates its use for objective classification of facial form for research purposes. On the other hand, promising results from unsupervised strategies (especially the PDM) suggest a potential use for objective classification and further identification and analysis of ambiguous cases. At present, such methodologies may be unsuitable for clinical application because of the invisibility of their underlying processes. Further study is required with additional patient data and a wider group of clinicians.

Algorithms↗

Communication between the dentist and the dental technician.

Factors contributing to good RPD design are described, including the respective inputs of the dentist and dental technician. Poor communication in current practice is reported and an appropriate format for a work authorization presented.

Communication↗

Radiative decay of doubly excited states in helium below the He+ (N = 2) ionization threshold

The radiative decay of (1)P(o) doubly excited states in helium has been investigated using a novel apparatus in which metastable atoms and vacuum ultraviolet photons are detected. The intensity ratio of the energetically narrow (sp,2n-)(1)P(o) and (2p,nd)(1)P(o) series to the broader (sp,2n+)(1)P(o) series is strikingly enhanced in comparison with conventional photoabsorption, photoion, or photoelectron measurements using synchrotron radiation. The experimental approach is a new way forward for the study of energetically narrow doubly excited states.

Journal Article↗

Abundant tissue butyrylcholinesterase and its possible function in the acetylcholinesterase knockout mouse.

We have described recently an acetylcholinesterase (AChE) knockout mouse. While comparing the tissue distribution of AChE and butyrylcholinesterase (BChE), we found that extraction buffers containing Triton X-100 strongly inhibited mouse BChE activity. In contrast, buffers with Tween 20 caused no inhibition of BChE. Conventional techniques grossly underestimated BChE activity by up to 15-fold. In Tween 20 buffer, the intestine, serum, lung, liver, and heart had higher BChE than AChE activity. Only brain had higher AChE than BChE activity in AChE +/+ mice. These findings contradict the dogma, based mainly on observations in Triton X-100 extracts, that BChE is a minor cholinesterase in animal tissues. AChE +/- mice had 50% of normal AChE activity and AChE -/- mice had none, but all mice had similar levels of BChE activity. BChE was inhibited by Triton X-100 in all species tested, except rat and chicken. Inhibition was reversible and competitive with substrate binding. The active site of rat BChE was unique, having an arginine in place of leucine at position 286 (human BChE numbering) in the acyl-binding pocket of the active site, thus explaining the lack of inhibition of rat BChE by Triton X-100. The generally high levels of BChE activity in tissues, including the motor endplate, and the observation that mice live without AChE, suggest that BChE has an essential function in nullizygous mice and probably in wild-type mice as well.

Acetylcholinesterase↗