Celiac disease

Celiac disease is a chronic intestinal disease caused by intolerance to gluten. It is characterized by immune-mediated enteropathy, associated with maldigestion and malabsorption of most nutrients and vitamins. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. The main symptoms are: stomach pain, gas, and bloating, diarrhea, weight loss, anemia, edema, bone or joint pain. Prevalence for clinically overt celiac disease varies from 1:270 in Finland to 1:5000 in North America. Since celiac disease can be asymptomatic, most subjects are not diagnosed or they can present with atypical symptoms. Furthermore, severe inflammation of the small bowel can be present without any gastrointestinal symptoms. The diagnosis should be made early since celiac disease causes growth retardation in untreated children and atypical symptoms like infertility or neurological symptoms. Diagnosis requires endoscopy with jejunal biopsy. In addition, tissue-transglutaminase antibodies are important to confirm the diagnosis since there are other diseases which can mimic celiac disease. The exact cause of celiac disease is unknown but is thought to be primarily immune mediated (tissue-transglutaminase autoantigen); often the disease is inherited. Management consists in life long withdrawal of dietary gluten, which leads to significant clinical and histological improvement. However, complete normalization of histology can take years

Síndrome ADULT: descrição clínica de cinco membros da mesma família, aspectos histológicos e investigação de mutação genética no p63

A ADULT (acro-dermato-ungueal-lacrimal-tooth) é uma síndrome genética humana que se manifesta clinicamente por alterações cutâneas e do desenvolvimento dos apêndices embrionários. Sua etiologia foi identificada inicialmente em 2001, mas atualmente sabe-se que está relacionada a mais de uma mutação no gene p63. Apesar de descrita pela primeira vez há quase duas décadas (1993) na Alemanha, a síndrome ainda é pouco reportada e esta é a primeira família brasileira descrita. Neste trabalho descrevemos os aspectos clínicos de cinco indivíduos de uma mesma família, os quais apresentavam manifestações fenotípicas compatíveis com a síndrome ADULT. Os achados clínicos incluem atelia/hipotelia, fotossensibilidade, distrofia ungueal, anormalidades dentárias e obstrução do ducto lacrimal. A adermatoglifia, manifestação clínica demonstrada em todos os acometidos desta família, não fora descrita anteriormente nos portadores da síndrome. A avaliação histológica por microscopia óptica evidenciou retificação das papilas dérmicas e a análise por microscopia eletrônica mostrou alteração nas fibras colágenas da derme. O sequenciamento genético através de amostras de sangue periférico identificou uma mutação no gene p63, previamente conhecida como R298Q.ADULT (acro-dermato-ungueal-tooth) is a human genetic syndrome that manifests clinically by skin and embryonic appendages anomalies. This syndrome pathogenesis was first identified in 2001, but nowadays it is related to more than one mutation in p63 gene. Although described almost 20 years ago (1993) in Germany, this syndrome still have few reports and this is the first brazilian family. We report here the clinical aspects of five members of a family which clinical features corresponded to phenotypic ADULT manifestations. The clinical aspects included athelia/hypotelia, photosensitivity, dystophic nails, tooth anomalies and lacrimal duct obstruction. The adermatoglyphia, manifestation found in all affected members of this family, was not described before. The histologic examination demonstrated flattening of dermal papillae and electron microsopy showed disrupted collagen fibers. The genetic sequencing of blood ssample found a mutation in p63 gene, already known as R298Q

Two-point motional Stark effect diagnostic for Madison Symmetric Torus

A high-precision spectral motional Stark effect (MSE) diagnostic provides internal magnetic field measurements for Madison Symmetric Torus (MST) plasmas. Currently, MST uses two spatial views-on the magnetic axis and on the midminor (off-axis) radius, the latter added recently. A new analysis scheme has been developed to infer both the pitch angle and the magnitude of the magnetic field from MSE spectra. Systematic errors are reduced by using atomic data from atomic data and analysis structure in the fit. Reconstructed current density and safety factor profiles are more strongly and globally constrained with the addition of the off-axis radius measurement than with the on-axis one only

A new model-discriminant training algorithm for hybrid NN-HMM systems

This paper describes a hybrid system for continuous speech recognition consisting of a neural network (NN) and a hidden Markov model (HMM). The system is based on a multilayer perceptron, which approximates the a-posteriori probability of a sequence of states, derived from semi-continuous hidden Markov models. The classification is based on a total score for each hybrid model, attained from a Viterbi search on the state probabilities. Due to the unintended discrimination between the states in each model, a new training algorithm for the hybrid neural networks is presented. The utilized error function approximates the misclassification rate of the hybrid system. The discriminance between the correct and the incorrect models is optimized during the training by the "Generalized Probabilistic Descent Algorithm\u27;, resulting in a minimum classification error. No explicit target values for the neural net output nodes are used, as in the usual backpropagation algorithm with a quadratic error function. In basic experiments up to 56% recognition rate were achieved on a vowel classification task and up to 69 % on a consonant cluster classification task

Motion of four-dimensional rigid body around a fixed point: an elementary approach. I

The goal of this note is to give the explicit solution of Euler-Frahm equations for the Manakov four-dimensional case by elementary means. For this, we use some results from the original papers by Schottky [Sch 1891], Koetter [Koe 1892], Weber [We 1878], and Caspary [Ca 1893]. We hope that such approach will be useful for the solution of the problem of $n$-dimensional top.Comment: LaTeX, 9 page

Reconstruction of nuclear quadrupole interaction in (In,Ga)As/GaAs quantum dots observed by transmission electron microscopy

A microscopic study of the individual annealed (In,Ga)As/GaAs quantum dots is done by means of high-resolution transmission electron microscopy. The Cauchy-Green strain-tensor component distribution and the chemical composition of the (In,Ga)As alloy are extracted from the microscopy images. The image processing allows for the reconstruction of the strain-induced electric-field gradients at the individual atomic columns extracting thereby the magnitude and asymmetry parameter of the nuclear quadrupole interaction. Nuclear magnetic resonance absorption spectra are analyzed for parallel and transverse mutual orientations of the electric-field gradient and a static magnetic field.Comment: 8 pages, 6 figure

True mid-infrared Pr3+ absorption cross-section in a selenide-chalcogenide host-glass

The mid-infrared (MIR) spans the 3-25 m wavelength range. Rare-earth-ion doped selenide-chalcogenide glasses are being developed for direct-emission MIR fibre lasers. The true Pr3+ absorption cross-section in the 3.5-6 µm wavelength region of a Pr3+-doped (500 ppmw of Pr3+ i.e. 9.47 x 1019 Pr3+ ions cm-3) GeAsGaSe host-glass is presented, after numerically removing the underlying, extrinsic vibrational absorption due to [H-Se-] contamination of the host-glass