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Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?

We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager syndrome or Genée-Wiedemann syndrome and also from cerebro-costo-mandibular syndrome. As chromosome analysis revealed normal male karyotypes, we consider this to be a distinct heritable syndrome that may be either autosomal recessive or X-chromosomal recessive.

Abnormalities, Multiple↗

Anatomical data fusion for quantitative reconstruction in myocardial tomoscintigraphy using a spline model of the thorax organs.

We present the fusion of anatomical data as a method for improving the reconstruction in single photon emission computed tomography (SPECT). Anatomical data is used to deduce a parameterized model of organs in a reconstructed slice using spline curves. This model allows us to define the imaging process, i.e., the direct problem, more adequately, and furthermore to restrict the reconstruction to the emitting zones. Instead of the usual square pixels, we use a new kind of discretization pixel, which fits to the contour in the region of interest. In the reconstruction phase, we estimate the activity in the emitting zones and also the optimum parameters of our model. Concentrating on the left ventricular (LV) wall activity, the simulation and phantom results show an accurate estimation of both the myocardial shape and the radioactive emission.

Computer Simulation↗

Current patterns and electrode types for single-source electrical impedance tomography of the thorax.

Electrical impedance tomography (EIT) estimates the spatial distribution of the electrical tissue properties in a cross section of the body. In the present study, we investigated how the quality of static thoracic images obtained from EIT systems with a single current source and sink is affected by the current pattern employed in the presence of measurement noise. The reconstructed images best reproduced our computational phantom when current source and sink were placed at neighboring electrodes. In this case, the mean squared reconstruction error was an order of magnitude smaller than for all other patterns of current injection studied. At a signal-to-noise ratio of 50 dB, 60% of the reconstructions converged successfully with source and sink at neighboring electrodes, while only 10% or less converged for all other configurations. We relate these results to the fact that neighboring currents strengthen the diagonal structure in the Hessian matrix of the iterative reconstruction process that we employed. We also tested the effects on the reconstruction error of the number and type of electrodes. We found that "compound electrodes" that permit voltage measurement at the site of current injection did not yield any practical improvement of the image quality. In contrast, doubling the number of boundary electrodes reduced the reconstruction error by almost two orders of magnitude.

Biomedical Engineering↗