Kinship investigations such as paternity are currently solved using sets of (commercially available) highly polymorphic autosomal short tandem repeats (STRs), which lead to powerful likelihood ratios (LR). Still, some difficult cases arise whenever the kinship is much more remote or if the alternative hypotheses are not correctly formulated due to the lack of information (for e.g. there is an unknown relationship between the alleged and the true fathers). In these situations, beyond the routinely used marker set, laboratories usually enlarge the number and/or the type of markers analysed. Among these, autosomal indels and X-chromosome STRs have gained popularity. The aim of this study was to compare the results obtained after complementing an initial set of autosomal STRs with indels or with X-chromosome-specific STRs in simulated paternity cases where the alleged father is a close relative of the real one. Results show that in paternity cases where a low number of incompatibilities are observed, the best strategy is to increase the number of autosomal STRs under analysis. Nevertheless, if these are not available, our study globally shows that in father-daughter duos, a set of 12 X-STRs is more advantageous than 38 highly diverse autosomal biallelic markers. Additionally, the usefulness of X-STRs was also evaluated in cases where only a close relative of the alleged parent (father or mother) is available for testing. For those situations where these markers have the power to exclude, strong LR values are obtained. In the remaining cases, LRs are usually weak and sometimes the results are more likely under the wrong kinship hypothesis.
The Philippines are a group of islands in the Asia-Pacific region harboring a high diversity of cultures, languages and people due to various migration waves and different degrees of admixture between neighboring groups. In this work we studied the most populous region of the country-Metropolitan Manilawith a set of small autosomal insertion deletion (indel) polymorphisms, to assess their genetic diversity and usefulness in forensic context. Using a single-tube multiplex reaction we characterized 38 indels in 195 individuals born in the National Capital Region, allowing to establish an allele frequency database for future reference in forensic applications. The genetic diversity observed was high (average heterozygosity = 0.40890), similar to previous studies in other East Asian populations, and the marker set reached good levels of informativeness, with a combined power of discrimination of 99.999999999997% and combined power of exclusion of 99.50%. In conclusion, our study showed that this simple indel multiplex can be useful for forensic applications in Metropolitan Manila Filipino population. 2015 Elsevier Ireland Ltd. All rights reserved.
Introduction. Although uncommon from a population-based perspective, there is considerable morbidity and mortality associated with malignant tumors of the nose and paranasal sinuses.The objective of this study was to characterize the presentation, risk factors, management and survival of patients with these tumors treated at a single institution.Materials and methods. We retrospectively reviewed the clinical records of patients with malignancies of the nose and paranasal sinuses diagnosed between January 2010 and December 2014 at a tertiary cancer center. Univariate and multivariate analysis were performed.Results. Ninety patients were included in the study. Mean age at diagnosis was 62.8 years (range, 2–95 years) and mean follow-up was 44.5 months (range, 2–113 months). The maxillary sinus (33.3 %) and the nasal cavity (32.2 %) were the most frequent sites of origin. Squamous cell carcinoma (36.7 %), mucosal melanoma (15.6 %) and adenoid cystic carcinoma (10 %) were the most common histologic subtypes. Surgery was the primary treatment for 86.7 % of patients. Recurrence occurred in 45 patients (50 %). The overall 5‑year survival was 39.3 % and disease free-survival was 45.9 %. Survival was significantly decreased in non-smokers (p = 0.022), T3–4 tumors (p = 0.007), positive lymph nodes (p <0.001), nonepithelial tumors (p = 0.036) and positive margins (p = 0.032). Survival was not affected by surgical approach between endoscopic, open and combined approaches (p = 0.088).Conclusion. Prognosis is poor, with high recurrences and low survival, but clearly histology, location and stage-dependent. Sound oncologic principles, with complete resections and negative margins, result in a better outcome.
A cardiomiopatia por estresse, também conhecida como síndrome de takotsubo, é uma forma reversível de disfunção ventricular esquerda aguda que geralmente é desencadeada por estresse emocional ou físico. Esta condição, inicialmente descrita no Japão, tem se tornado cada vez mais reconhecida em todo o mundo. Neste artigo, discutiremos o manejo e o prognóstico da cardiomiopatia por estresse, incluindo as opções de tratamento e as possíveis complicações.
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