The molecular basis of low activity levels of coagulation factor VII: a Brazilian cohort.

Inherited factor VII (FVII) deficiency is the most common among the rare bleeding disorders. It is transmitted as an autosomal recessive inheritance, due to mutations in the FVII gene (F7). Molecular studies of FVII deficiency are rare in non-Caucasian populations. The aim of the study was to evaluate the molecular basis behind low levels of FVII activity (FVII:C) levels in a cohort of Brazilian patients. A total of 34 patients with low FVII levels were clinically evaluated and submitted to laboratory tests, among these, prothrombin time and FVII:C, with different thromboplastins. All exons and intron/exon boundaries of F7 were amplified and sequenced. A total of 14 genetic alterations were identified, of which six were described previously, c.1091G>A, c.1151C>T, c.-323_-313insCCTATATCCT, c.285G>A, c.525C>T, c.1238G>A and eight (54.0%) and eight were new, c.128G>A, c.252C>T, c.348G>A, c.417G>A, c.426G>A, c.745_747delGTG, c.843G>A and c.805+52C>T. In addition to the mutation c.1091G>A, known as FVII Padua, the mutation c.1151C>T also presented discrepant FVII:C levels when tested with human and rabbit brain thromboplastin. There was no association between phenotype and genotype. Most of the identified genetic alterations found were polymorphisms. Low levels of FVII:C in this population were mostly related to polymorphisms in F7 and associated with a mild clinical phenotype. Mutation c.1151C>T was associated with discrepant levels of FVII:C using different thromboplastins, such as reported with FVII Padua.

Feeding ecology and trophic comparisons of six shark species in a coastal ecosystem off southern Brazil.

The diets of six shark species, Sphyrna lewini, Sphyrna zygaena, Carcharhinus obscurus, Carcharhinus limbatus, Rhizoprionodon lalandii and Galeocerdo cuvier, were investigated in a subtropical coastal ecosystem of southern Brazil. Stomach content data were obtained to assess foraging niche segregation and ontogenetic shifts in the diets of these sharks. Five of the shark species off the Paraná coast were ichthyophagous, with the exception of S. zygaena, which was teutophagous. With the exception of G. cuvier, which had a generalist diet, the other five species displayed specialization in their feeding. Ontogenetic shifts were observed in C. obscurus and S. lewini with large individuals consuming elasmobranchs. Owing to the diet overlap between C. obscurus and S. lewini, C. obscurus and C. limbatus and R. lalandii and C. limbatus, future studies on the spatial and temporal distributions of these species are needed to understand the extent of competitive interactions.

The assessment of round lytic lesions in sternotomies.

OBJECTIVE: The aims of this study were to define imaging findings and to identify any predisposing factors for the development of the round lytic lesion across the margins of sternotomy during the process of bone healing. METHODS: We searched all chest CT scans performed between 2007 and 2012 and selected patients who had three studies performed in the recent, late and latest post-operative periods. Patients presenting any complications related to wound healing were excluded from the study. CT features of the sternotomy and possible instability factors were assessed. RESULTS: From 15689 chest CT images analysed, 68 patients fulfilled the criteria. The development of a round lytic lesion was observed in 35 and 39 patients in the late and latest post-operative periods, respectively, and there was an association between mild misalignment of margins in the recent post-operative period and the development of a round lesion in the follow-up periods (p=0.010 and p=0.002, respectively). CONCLUSION: Sternotomies exhibit a delayed and unusual pattern of bone healing, and minimal instability factors during bone closure could trigger the development of a lytic lesion that is part of the normal healing process. ADVANCES IN KNOWLEDGE: This lytic bone lesion is part of the bone healing, and its appearance should not be mistaken as infection or malignancy, even in a suggestive clinical setting.

Fish and aquatic habitat conservation in South America: a continental overview with emphasis on neotropical systems.

Fish conservation in South America is a pressing issue. The biodiversity of fishes, just as with all other groups of plants and animals, is far from fully known. Continuing habitat loss may result in biodiversity losses before full species diversity is known. In this review, the main river basins of South America (Magdalena, Orinoco, Amazon and Paraná-La Plata system), together with key aquatic habitats (mangrove-fringed estuaries of the tropical humid, tropical semi-arid and subtropical regions) are analysed in terms of their characteristics and main concerns. Habitat loss was the main concern identified for all South American ecosystems. It may be caused by damming of rivers, deforestation, water pollution, mining, poor agricultural practice or inadequate management practice. Habitat loss has a direct consequence, which is a decrease in the availability of living resources, a serious social and economic issue, especially for South American nations which are all developing countries. The introduction of exotic species and overfishing were also identified as widespread across the continent and its main freshwater, coastal and marine ecosystems. Finally, suggestions are made to find ways to overcome these problems. The main suggestion is a change of paradigm and a new design for conservation actions, starting with integrated research and aiming at the co-ordinated and harmonized management of the main transboundary waters of the continent. The actions would be focused on habitat conservation and social rescue of the less well-off populations of indigenous and non-indigenous peoples. Energy and freshwater demands will also have to be rescaled in order to control habitat loss.

Primary oral tuberculosis: a report of a case diagnosed by polymerase chain reaction.

We present a case of primary oral tuberculosis, affecting the maxillary gingiva and causing alveolar bone loss in a 34-year-old Colombian female patient. Definitive diagnosis was facilitated by polymerase chain reaction analysis, a useful modern tool for the diagnosis of infectious diseases. The location and clinical presentation of this lesion is unusual and underlines the importance of considering tuberculosis in the differential diagnosis of oral lesions that affect the gingiva and alveolar bone.

[Non conventional diagnostic methods for tuberculosis]. / Métodos de diagnóstico no convencionales para la tuberculosis.

This revision show the advantage and disadvantage of some diagnostic methods for tuberculosis and mycobacterium identification.

[Diagnosis of tuberculosis meningitis by detection of adenosine deaminase activity and amplification of nucleotide sequences with PCR]. / Diagnóstico de meningitis tuberculosa por la determinación de la actividad de adenosina deaminasa y la amplificación de secuencias nucleotídicas por PCR.

Tuberculous meningitis (TBM) is the most severe and lethal form of tuberculosis. The rapid bacteriological diagnosis with the conventional techniques is nearly impossible in TBM. There for many patients are treated with anti-TBC drugs without a definitive diagnosis. A more fast and accurate diagnostic method is necessary, in order to initiate the treatment on time to prevent the irreversible neurologic sequel or death. We evaluated the use of two rapid methods: Adenosine deaminase activity (ADA) and polymerase chain reaction (PCR) for IS6110 and mtp40 sequences on cerebrospinal fluid (CSF) from chronic meningitis patients. For ADA activity > 8.0 U/L the sensibility and specificity was 80% and 91%. PCR sensibility was 80% and specificity 97%. ADA activity and PCR on CSF could be specially useful as complementary tools in the early diagnosis of TBM.