Mosaic Trisomy 18 in a Five-Month-Old Infant - Case Report

Individuals with mosaic trisomy 18, only approximately 5% of all trisomy 18 cases, carry both a trisomy 18 and an euploid cell line. Their clinical findings are highly variable, from the absence of dysmorphic features to the complete trisomy 18 syndrome. A five month old daughter of a 38-year-old mother, with vomiting and feeding problems, was referred to our department. She was undernourished and had axial hypotony and developmental delay, an irregular pattern of hypopigmentation on the right side of the abdomen, and moderate sagittal body asymmetry with left-side muscular hemihypotrophy.Mild craniofacial dysmorphy included dolichocephaly, frontal bossing, prominent occiput, long downslanting palpebral fissures, hypertelorism, and retrognathia. A complex heart defect with atrial and ventricular septal defects, pulmonary artery stenosis, and bicuspid aortic valve was identified. Cytogenetic analysis revealedmosaic trisomy 18with trisomy in 90%of peripheral lymphocytes and 17%of skin fibroblasts.This case adds to our knowledge of the phenotypic spectrum and the natural history of mosaic trisomy 18 by adding a dysmorphic feature and a cardiac abnormality that, to the best of our knowledge, had not been previously described.

Anti-Tumor Necrosis Factor Alpha-Induced Drug Eruptions: One Patient, More Than a Pattern

Background: Tumor necrosis factor alpha (TNFα) antagonists are effective in treating several immune-inflammatory diseases, including psoriasis and inflammatory bowel disease. The paradoxical and unpredictable induction of psoriasis and psoriasiform skin lesions is a recognized adverse event, although of unclear aetiology. However, histological analysis of these eruptions remains insufficient, yet suggesting that some might constitute a new pattern of adverse drug reaction, rather than true psoriasis. Case report: The authors report the case of a 43-year-old woman with severe recalcitrant Crohn disease who started treatment with infliximab. There was also a personal history of mild plaque psoriasis without clinical expression for the past eight years. She developed a heterogeneous cutaneous eruption of psoriasiform morphology with pustules and crusts after the third infliximab infusion. The histopathological diagnosis was of a Sweet-like dermatosis. The patient was successfully treated with cyclosporine in association with both topical corticosteroid and vitamin D3 analogue. Three weeks after switching to adalimumab a new psoriasiform eruption was observed, histologically compatible with a psoriasiform drug eruption. Despite this, and considering the beneficial effect on the inflammatory bowel disease, it was decided to maintain treatment with adalimumab and to treat through with topicals, with progressive control of skin disease. Discussion: Not much is known about the pathogenesis of psoriasiform eruptions induced by biological therapies, but genetic predisposition and Koebner phenomenon may contribute to it. Histopathology can add new facets to the comprehension of psoriasiform reactions. In fact, histopathologic patterns of such skin lesions appear to be varied, in a clear asymmetry with clinical findings. Conclusion: The sequential identification in the same patient of two clinical and histopathologic patterns of drug reaction to TNFα antagonists is rare. Additionally, to the authors’ knowledge, there is only one other description in literature of a TNFα antagonist-induced Sweet-like dermatosis, emphasizing the singularity of this case report.

Fiscal adjustments and sovereign default in different government systems

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Economics from the NOVA – School of Business and Economics

The effects Ishares IBovespa index fund creation on the liquidity of underlying stocks

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Finance from the NOVA – School of Business and Economics

Molecular tools to dissect the role of Dmrt2a and Dmrt2b in the left-right axis formation in zebrafish

Dissertação para obtenção do Grau de Mestre em Genética Molecular e Biomedicina

Corporate social responsibility levels and firm performance: Evidence from countries in crisis

A Work Project, presented as part of the requirements for the Award of a Masters Degree in Finance from the NOVA – School of Business and Economics

Fiscal adjustments and sovereign default in different government systems

This paper extends the model of Spolaore (2004) about adjustments in di erent government systems for the context of scal adjustments and sovereign default. We introduce asymmetry between groups in income and preferences towards scal reforms. Default a ects di erently each group and becomes a possibility if reforms are not enacted after public nance solvency shocks, in uencing the political game according to its likelihood. With the extensions, new situations which were not possible with the previous framework arise. After the exposition of the model, the Argentine default in 2001 provides an example of the political con icts addressed by the model.

Isokinetic dynamometry of knee flexors and extensors: comparative study among non-athletes, jumper athletes and runner athletes

Participation in intensive sports activities leads to muscular specializations that may generate alterations in involved articular forces and cause static (posture) and dynamic changes (alterations of articular stability, coordination, etc.). Prevention of injury requires specific functional muscular evaluation in all athletes and for any kind of sport. OBJECTIVE: To dynamically evaluate, through isokinetic tests, the peak torque, total work, and average power of the knee flexor and extensor muscles of jumper and runner athletes and compare them to those of a non-athletic population, evaluating dominance and balance between agonistic and antagonistic muscle groups. RESULTS: In the non-athlete group, we noted a higher asymmetry between the dominant and nondominant members. The jumpers had the highest values of the evaluated parameters of all groups, whereas parameters for the runners were intermediate between non-athletes and jumpers.

Sexing the human skull through the mastoid process

OBJECTIVE: The purpose of this study was to evaluate the significance for sex determination of the measurement of the area formed by the xerographic projection of 3 craniometric points related to the mastoid process: the porion, asterion, and mastoidale points. METHOD: Sixty skulls, 30 male and 30 female, were analyzed. A xerographic copy of each side of the skull was obtained. On each xerographic copy, the craniometric points were marked to demarcate a triangle. The area (mm²) of the demarcated triangle for each side of the skull (right (D) and left (E) sides) was determined, and the total value of these measures (T) was calculated. RESULTS: Concerning the right area of the male and female skulls, 60% of the values overlapped; for the left area, 51.67% overlapped, and for the total area, 36.67% overlapped. The analysis of the differences between the sexes in the areas studied was significant for the 3 areas. Regarding the total area, which is the preferred measurement because of the asymmetry between the sides of the skull, the value of the mean was 1505.32 mm² for male skulls, which was greater than the maximum value obtained in the female skulls. The value of the mean for female skulls was 1221.24 mm², less than the minimum value obtained for the male skulls. CONCLUSIONS: This study demonstrates a significant result in the 3 studied areas, (D), (E), and (T). The total area values show less overlapping of values between the sexes, and therefore can be used for sexing human skulls. For the population studied, values of the total area that were greater than or equal to 1447.40 mm² belonged to male crania (95% confidence). Values for this area that were less than or equal to 1260.36 mm² belonged to female crania (95% confidence).

Crowdfunding campaigns: Perceived quality and success

Research in Crowdfunding is an emerging priority within the field of Entrepreneurship. Hundreds of platforms provide nowadays multiple Crowdfunding schemes which are intended to make it easier for entrepreneurs and others to collect money from the crowd. However, only a few campaigns become successful as others don’t reach the pre-established funding goal. It is thus necessary to keep on understanding the dynamics of these platforms and the factors which justify success. The asymmetry of information has been shown to be a delicate issue as people perceive quality in different manners. As so, this research aims to understand which components of perceived quality mostly influence investments decisions. Mainly Entrepreneurship and Marketing theories were explored along the way. This is research follows a causal approach where nineteen hypotheses are tested. An experimental survey was conducted and data was collected from 127 people who were asked to evaluate one of the most important pieces of any Crowdfunding campaign – the pitch video – and consequently invest on the presented products.

Cross-delisting, financial constraints and investment sensitivities

We investigate the impact of cross-delisting on firms’ financial constraints and investment sensitivities. We find that firms that cross-delisted from a U.S. stock exchange face stronger post-delisting financial constraints than their cross-listed counterparts, as measured by investment-to-cash flow sensitivity. Following a delisting, the sensitivity of investment-to-cash flow increases significantly and firms also tend to save more cash out of cash flows. Moreover, this increase appears to be primarily driven by informational frictions that constrain access to external financing. We document that information asymmetry problems are stronger for firms from countries with weaker shareholders protection and for firms from less developed capital markets.

Earnings management and stock price crashes post-crossdelisting

We test whether cross-delisted firms from the major U.S. stock exchanges experience an increase in crash risk associated with earnings management. Consistent with our prediction, we find that earnings management have a greater positive impact on stock price crash risk post-cross-delisting when compared to a sample of still cross-listed firms. Moreover, our results suggest that this effect is more pronounced for crossdelisted firms from countries with weaker investor protection and poorer quality of their information environment. We further examine whether managers’ ability to manipulate earnings increases post-cross-delisting around seasoned equity offerings. Our evidence shows that cross-delisted firms that engage in earnings management to inflate reported earnings prior to a seasoned equity offering are more likely to observe a subsequent stock price crash.

Ergonomics, anthropometrics, and kinetic evaluation of gait: A case study

This study aimed to develop appropriate changes in a pair of shoes in order to improve the gait of an individual selected for this case study. This analysis took into account ergonomic aspects, namely those relating to the individual’s anthropometrics. Gait analysis was done with the adapted footwear both before and after intervention.A conventional X-ray was performed, which revealed a 29-mm left lower limb shortening and possible foot adduction. The anthropometric assessment confirmed a 27-mm asymmetry between the left knee and foot.Corrective changes were implemented in the left boot, with a 20-mm increase in the plantar aspect and approximately 30-mm in the calcaneus area.The pressure-mapping system WalkinSense was used for the kinetic gait analysis. Results showed some improvement in plantar pressure distribution after corrective changes in footwear. Peak pressure in the left foot decreased from 2.8kg/cm2 to 1.6kg/cm2. The second peak also showed a marked decrease. The right foot presented with a reduction in peak plantar pressure from 2.7kg/cm2 to 2.3kg/cm2.After identifying asymmetries, the associated pathologies and modifyingthe footwear, a kinetic analysis of gait before and after altering the footwear was undertaken, which showed improvements in the gait. According to the obtained results, it was possible to demonstrate that the initially proposed objectives were achieved, i.e., the changes in footwear resulted in an improvement of the analyzed individual.

Evaluating balance, stability and gait symmetry of stroke patients using kinematic and dynamic gait lab data

Dissertação de mestrado integrado em Engenharia Biomédica

Measurement of transverse energy-energy correlations in multi-jet events in pp collisions at s√=7 TeV using the ATLAS detector and determination of the strong coupling constant αs(mZ)

High transverse momentum jets produced in pp collisions at a centre of mass energy of 7 TeV are used to measure the transverse energy--energy correlation function and its associated azimuthal asymmetry. The data were recorded with the ATLAS detector at the LHC in the year 2011 and correspond to an integrated luminosity of 158 pb−1. The selection criteria demand the average transverse momentum of the two leading jets in an event to be larger than 250 GeV. The data at detector level are well described by Monte Carlo event generators. They are unfolded to the particle level and compared with theoretical calculations at next-to-leading-order accuracy. The agreement between data and theory is good and provides a precision test of perturbative Quantum Chromodynamics at large momentum transfers. From this comparison, the strong coupling constant given at the Z boson mass is determined to be αs(mZ)=0.1173±0.0010 (exp.) +0.0065−0.0026 (theo.).