Prospects for whole genome linkage disequilibrium mapping in domestic dog breeds

Linkage disequilibrium (LD) mapping is commonly used as a fine mapping tool in human genome mapping and has been used with some success for initial disease gene isolation in certain isolated inbred human populations. An understanding of the population history of domestic dog breeds suggests that LID mapping could be routinely utilized in this species for initial genome-wide scans. Such an approach offers significant advantages over traditional linkage analysis. Here, we demonstrate, using canine copper toxicosis in the Bedlington terrier as the model, that LID mapping could be reasonably expected to be a useful strategy in low-resolution, genome-wide scans in pure-bred dogs. Significant LID was demonstrated over distances up to 33.3 cM. It is very unlikely, for a number of reasons discussed, that this result could be extrapolated to the rest of the genome. It is, however, consistent with the expectation given the population structure of canine breeds and, in this breed at least, with the hypothesis that it may be possible to utilize LID in a genome-wide scan. In this study, LD mapping confirmed the location of the copper toxicosis in Bedlington terrier gene (CT-BT) and was able to do so in a population that was refractory to traditional linkage analysis.

alpha-conotoxins PnIA and [A10L] PnIA stabilize different states of the alpha 7-L247T nicotinic acetylcholine receptor

The effects of the native alpha-conotoxin PnIA, its synthetic derivative [ A10L] PnIA and alanine scan derivatives of [ A10L] PnIA were investigated on chick wild type alpha7 and alpha7-L247T mutant nicotinic acetylcholine receptors (nAChRs) expressed in Xenopus oocytes. PnIA and [A10L] PnIA inhibited acetylcholine (ACh)-activated currents at wtalpha7 receptors with IC50 values of 349 and 168 nM, respectively. Rates of onset of inhibition were similar for PnIA and [ A10L] PnIA; however, the rate of recovery was slower for [ A10L] PnIA, indicating that the increased potency of [ A10L] PnIA at alpha7 receptors is conveyed by its slower rate of dissociation from the receptors. All the alanine mutants of [ A10L] PnIA inhibited ACh-activated currents at wtalpha7 receptors. Insertion of an alanine residue between position 5 and 13 and at position 15 significantly reduced the ability of [ A10L] PnIA to inhibit ACh-evoked currents. PnIA inhibited the non-desensitizing ACh-activated currents at alpha7-L247T receptors with an IC50 194 nM. In contrast, [ A10L] PnIA and the alanine mutants potentiated the ACh-activated current alpha7-L247T receptors and in addition [ A10L] PnIA acted as an agonist. PnIA stabilized the receptor in a state that is non-conducting in both the wild type and mutant receptors, whereas [ A10L] PnIA stabilized a state that is non-conducting in the wild type receptor and conducting in the alpha7-L247T mutant. These data indicate that the change of a single amino acid side-chain, at position 10, is sufficient to change the toxin specificity for receptor states in the alpha7-L247T mutant.

Effect of lifter design on drying performance in rotary dryers

Lifter use in dryers improves mass transfer by increasing the amount of surface area available for transfer and also by increasing the velocity of gas over the particle surface. An even cross-sectional distribution of particles in a dryer improves the efficiency of operation by ensuring that evaporation from falling particles is taking place for the maximum fraction of the rotation period of the drier. Studies on lifter design to improve the cross-sectional particle distribution were performed on angled lifters. A single lifter was used and the mass-transfer rate examined as a function of angular lifter displacement. Analysis of the mass transfer characteristics of single lifters allowed performance comparisons and recommendations for lifter design.

Occurrence of storm-generated bedforms along the inner continental shelf - Southeastern Brazil

Levantamentos sonográficos desenvolvidos em duas áreas da plataforma interna adjacente ao estado do Espírito Santo revelam formas de fundo cuja origem é fortemente relacionada a eventos de tempestades. Estas são caracterizadas por alternâncias de bandas de areias finas sobrepostas, de forma alternada, a um fundo de areias grossas, gerando manchas de areias grossas intercaladas abruptamente com faixas de areias finas a profundidades de 25-30 m para GUA e de 05-08 m para BES. Em ambas as áreas as faixas de areias grossas apresentam marcas de ondulação geradas por ondas com orientação levemente paralela a linha de costa. A sedimentologia de GUA é composta por areias finas a muito finas lamosas carbonáticas com cascalhos siliciclásticos e a de BES por areias grossas e médias com cascalhos biodetríticos. Desta forma, é clara a ação de correntes/ondas de tempestade no fundo marinho de GUA e de BES; porém, a classificação quanto ao comportamento hidrodinâmico e ao transporte de sedimento é necessária para as estimativas sobre a formação, transporte e manutenção das feições encontradas.

Avaliação oculomotora em pacientes com disfunção vestibular periférica

OBJETIVO: Verificar se os parâmetros dos movimentos sacádicos fixos e randomizados, do rastreio pendular e do nistagmo optocinético na vectonistagmografia digital podem apresentar alterações em pacientes com hipótese diagnóstica de disfunção vestibular periférica. MÉTODO: Foram avaliados 60 pacientes, de ambos os sexos, com tontura de origem vestibular periférica e idade entre 12 e 82 anos. Os achados foram comparados com um padrão de normalidade para os parâmetros dos movimentos oculares estudados. RESULTADOS: Os movimentos sacádicos fixos estavam alterados em 100% dos casos quanto à latência e em 35% quanto à velocidade; os randomizados estavam alterados em 100% quanto à latência, em 78,3% quanto à precisão e 1,7% quanto à velocidade; o rastreio pendular apresentou alteração do ganho nas freqüências de 0,1Hz em 15%, 0,2Hz em 21,7% e 0,4Hz em 13,3%; o nistagmo optocinético apresentou alteração da velocidade angular da componente lenta em 1,7% e do ganho em 5%. CONCLUSÕES: A latência e a velocidade dos movimentos sacádicos fixos; a latência, a precisão e a velocidade dos movimentos randomizados; o ganho do rastreio pendular; a velocidade angular da componente lenta e o ganho do nistagmo optocinético na vectonistagmografia digital podem apresentar alterações em pacientes com hipótese diagnóstica de disfunção vestibular periférica.

Automatic prebent customized prosthesis for pectus excavatum minimally invasive surgery correction

Pectus excavatum is the most common deformity of the thorax. A minimally invasive surgical correction is commonly carried out to remodel the anterior chest wall by using an intrathoracic convex prosthesis in the substernal position. The process of prosthesis modeling and bending still remains an area of improvement. The authors developed a new system, i3DExcavatum, which can automatically model and bend the bar preoperatively based on a thoracic CT scan. This article presents a comparison between automatic and manual bending. The i3DExcavatum was used to personalize prostheses for 41 patients who underwent pectus excavatum surgical correction between 2007 and 2012. Regarding the anatomical variations, the soft-tissue thicknesses external to the ribs show that both symmetric and asymmetric patients always have asymmetric variations, by comparing the patients’ sides. It highlighted that the prosthesis bar should be modeled according to each patient’s rib positions and dimensions. The average differences between the skin and costal line curvature lengths were 84 ± 4 mm and 96 ± 11 mm, for male and female patients, respectively. On the other hand, the i3DExcavatum ensured a smooth curvature of the surgical prosthesis and was capable of predicting and simulating a virtual shape and size of the bar for asymmetric and symmetric patients. In conclusion, the i3DExcavatum allows preoperative personalization according to the thoracic morphology of each patient. It reduces surgery time and minimizes the margin error introduced by the manually bent bar, which only uses a template that copies the chest wall curvature.

Thoracic wall reconstruction using ultrasound images to model/bend the thoracic prosthesis for correction of pectus excavatum

Pectus excavatum is the most common congenital deformity of the anterior thoracic wall. The surgical correction of such deformity, using Nuss procedure, consists in the placement of a personalized convex prosthesis into sub-sternal position to correct the deformity. The aim of this work is the CT-scan substitution by ultrasound imaging for the pre-operative diagnosis and pre-modeling of the prosthesis, in order to avoid patient radiation exposure. To accomplish this, ultrasound images are acquired along an axial plane, followed by a rigid registration method to obtain the spatial transformation between subsequent images. These images are overlapped to reconstruct an axial plane equivalent to a CT-slice. A phantom was used to conduct preliminary experiments and the achieved results were compared with the corresponding CT-data, showing that the proposed methodology can be capable to create a valid approximation of the anterior thoracic wall, which can be used to model/bend the prosthesis

Pectus Excavatum postsurgical outcome based on preoperative soft body dynamics simulation

Pectus excavatum is the most common congenital deformity of the anterior chest wall, in which an abnormal formation of the rib cage gives the chest a caved-in or sunken appearance. Today, the surgical correction of this deformity is carried out in children and adults through Nuss technic, which consists in the placement of a prosthetic bar under the sternum and over the ribs. Although this technique has been shown to be safe and reliable, not all patients have achieved adequate cosmetic outcome. This often leads to psychological problems and social stress, before and after the surgical correction. This paper targets this particular problem by presenting a method to predict the patient surgical outcome based on pre-surgical imagiologic information and chest skin dynamic modulation. The proposed approach uses the patient pre-surgical thoracic CT scan and anatomical-surgical references to perform a 3D segmentation of the left ribs, right ribs, sternum and skin. The technique encompasses three steps: a) approximation of the cartilages, between the ribs and the sternum, trough b-spline interpolation; b) a volumetric mass spring model that connects two layers - inner skin layer based on the outer pleura contour and the outer surface skin; and c) displacement of the sternum according to the prosthetic bar position. A dynamic model of the skin around the chest wall region was generated, capable of simulating the effect of the movement of the prosthetic bar along the sternum. The results were compared and validated with patient postsurgical skin surface acquired with Polhemus FastSCAN system

Variations of the soft tissue thicknesses external to the ribs in Pectus Excavatum patients

Background: Surgical repair of pectus excavatum (PE) has become more popular due to improvements in the minimally invasive Nuss procedure. The pre-surgical assessment of PE patients requires Computerized Tomography (CT), as the malformation characteristics vary from patient to patient. Objective: This work aims to characterize soft tissue thickness (STT) external to the ribs among PE patients. It also presents a comparative analysis between the anterior chest wall surface before and after surgical correction. Methods: Through surrounding tissue segmentation in CT data, STT values were calculated at different lines along the thoracic wall, with a reference point in the intersection of coronal and median planes. The comparative analysis between the two 3D anterior chest surfaces sets a surgical correction influence area (SCIA) and a volume of interest (VOI) based on image processing algorithms, 3D surface algorithms, and registration methods. Results: There are always variations between left and right side STTs (2.54±2.05 mm and 2.95±2.97 mm for female and male patients, respectively). STTs are dependent on age, sex, and body mass index of each patient. On female patients, breast tissue induces additional errors in bar manual

Automatic modeling of an orthotic bracing for nonoperative correction of PectusCarinatum

Pectus Carinatum is a deformity of the chest wall, characterized by an anterior protrusion of the sternum, often corrected surgically due to cosmetic motivation. This work presents an alternative approach to the current open surgery option, proposing a novel technique based on a personalized orthosis. Two different processes for the orthosis’ personalization are presented. One based on a 3D laser scan of the patient chest, followed by the reconstruction of the thoracic wall mesh using a radial basis function, and a second one, based on a computer tomography scan followed by a neighbouring cells algorithm. The axial position where the orthosis is to be located is automatically calculated using a Ray-Triangle intersection method, whose outcome is input to a pseudo Kochenek interpolating spline method to define the orthosis curvature. Results show that no significant differences exist between the patient chest physiognomy and the curvature angle and size of the orthosis, allowing a better cosmetic outcome and less initial discomfort

Automatic prebent customized prosthesis for pectus excavatum minimally invasive surgery correction

Pectus excavatum is the most common deformity of the thorax. A minimally invasive surgical correction is commonly carried out to remodel the anterior chest wall by using an intrathoracic convex prosthesis in the substernal position. The process of prosthesis modeling and bending still remains an area of improvement. The authors developed a new system, i3DExcavatum, which can automatically model and bend the bar preoperatively based on a thoracic CT scan. This article presents a comparison between automatic and manual bending. The i3DExcavatum was used to personalize prostheses for 41 patients who underwent pectus excavatum surgical correction between 2007 and 2012. Regarding the anatomical variations, the soft-tissue thicknesses external to the ribs show that both symmetric and asymmetric patients always have asymmetric variations, by comparing the patients’ sides. It highlighted that the prosthesis bar should be modeled according to each patient’s rib positions and dimensions. The average differences between the skin and costal line curvature lengths were 84 ± 4 mm and 96 ± 11 mm, for male and female patients, respectively. On the other hand, the i3DExcavatum ensured a smooth curvature of the surgical prosthesis and was capable of predicting and simulating a virtual shape and size of the bar for asymmetric and symmetric patients. In conclusion, the i3DExcavatum allows preoperative personalization according to the thoracic morphology of each patient. It reduces surgery time and minimizes the margin error introduced by the manually bent bar, which only uses a template that copies the chest wall curvature.

Variations of the soft tissue thicknesses external to the ribs in pectus excavatum patients

Background: Surgical repair of pectus excavatum (PE) has become more popular due to improvements in the minimally invasive Nuss procedure. The pre-surgical assessment of PE patients requires Computerized Tomography (CT), as the malformation characteristics vary from patient to patient. Objective: This work aims to characterize soft tissue thickness (STT) external to the ribs among PE patients. It also presents a comparative analysis between the anterior chest wall surface before and after surgical correction. Methods: Through surrounding tissue segmentation in CT data, STT values were calculated at different lines along the thoracic wall, with a reference point in the intersection of coronal and median planes. The comparative analysis between the two 3D anterior chest surfaces sets a surgical correction influence area (SCIA) and a volume of interest (VOI) based on image processing algorithms, 3D surface algorithms, and registration methods. Results: There are always variations between left and right side STTs (2.54±2.05 mm and 2.95±2.97 mm for female and male patients, respectively). STTs are dependent on age, sex, and body mass index of each patient. On female patients, breast tissue induces additional errors in bar manual

Automatic prebent customized prosthesis for pectus excavatum minimally invasive surgery correction

Pectus excavatum is the most common deformity of the thorax. A minimally invasive surgical correction is commonly carried out to remodel the anterior chest wall by using an intrathoracic convex prosthesis in the substernal position. The process of prosthesis modeling and bending still remains an area of improvement. The authors developed a new system, i3DExcavatum, which can automatically model and bend the bar preoperatively based on a thoracic CT scan. This article presents a comparison between automatic and manual bending. The i3DExcavatum was used to personalize prostheses for 41 patients who underwent pectus excavatum surgical correction between 2007 and 2012. Regarding the anatomical variations, the soft-tissue thicknesses external to the ribs show that both symmetric and asymmetric patients always have asymmetric variations, by comparing the patients’ sides. It highlighted that the prosthesis bar should be modeled according to each patient’s rib positions and dimensions. The average differences between the skin and costal line curvature lengths were 84 ± 4 mm and 96 ± 11 mm, for male and female patients, respectively. On the other hand, the i3DExcavatum ensured a smooth curvature of the surgical prosthesis and was capable of predicting and simulating a virtual shape and size of the bar for asymmetric and symmetric patients. In conclusion, the i3DExcavatum allows preoperative personalization according to the thoracic morphology of each patient. It reduces surgery time and minimizes the margin error introduced by the manually bent bar, which only uses a template that copies the chest wall curvature.

Automatic modeling of an orthotic bracing for nonoperative correction of pectus carinatum

Pectus Carinatum is a deformity of the chest wall, characterized by an anterior protrusion of the sternum, often corrected surgically due to cosmetic motivation. This work presents an alternative approach to the current open surgery option, proposing a novel technique based on a personalized orthosis. Two different processes for the orthosis’ personalization are presented. One based on a 3D laser scan of the patient chest, followed by the reconstruction of the thoracic wall mesh using a radial basis function, and a second one, based on a computer tomography scan followed by a neighbouring cells algorithm. The axial position where the orthosis is to be located is automatically calculated using a Ray-Triangle intersection method, whose outcome is input to a pseudo Kochenek interpolating spline method to define the orthosis curvature. Results show that no significant differences exist between the patient chest physiognomy and the curvature angle and size of the orthosis, allowing a better cosmetic outcome and less initial discomfort.

Voxel-based registration of simulated and real patient CBCT data for accurate dental implant pose estimation

The success of dental implant-supported prosthesis is directly linked to the accuracy obtained during implant’s pose estimation (position and orientation). Although traditional impression techniques and recent digital acquisition methods are acceptably accurate, a simultaneously fast, accurate and operator-independent methodology is still lacking. Hereto, an image-based framework is proposed to estimate the patient-specific implant’s pose using cone-beam computed tomography (CBCT) and prior knowledge of implanted model. The pose estimation is accomplished in a threestep approach: (1) a region-of-interest is extracted from the CBCT data using 2 operator-defined points at the implant’s main axis; (2) a simulated CBCT volume of the known implanted model is generated through Feldkamp-Davis-Kress reconstruction and coarsely aligned to the defined axis; and (3) a voxel-based rigid registration is performed to optimally align both patient and simulated CBCT data, extracting the implant’s pose from the optimal transformation. Three experiments were performed to evaluate the framework: (1) an in silico study using 48 implants distributed through 12 tridimensional synthetic mandibular models; (2) an in vitro study using an artificial mandible with 2 dental implants acquired with an i-CAT system; and (3) two clinical case studies. The results shown positional errors of 67±34μm and 108μm, and angular misfits of 0.15±0.08º and 1.4º, for experiment 1 and 2, respectively. Moreover, in experiment 3, visual assessment of clinical data results shown a coherent alignment of the reference implant. Overall, a novel image-based framework for implants’ pose estimation from CBCT data was proposed, showing accurate results in agreement with dental prosthesis modelling requirements.