Artrite séptica em cão. Relato de caso

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Penfigóide bolhoso. Relato de caso

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Snazer: the simulations and networks analyzer

<p>Abstract</p> <p>Background</p> <p>Networks are widely recognized as key determinants of structure and function in systems that span the biological, physical, and social sciences. They are static pictures of the interactions among the components of complex systems. Often, much effort is required to identify networks as part of particular patterns as well as to visualize and interpret them.</p> <p>From a pure dynamical perspective, simulation represents a relevant <it>way</it>-<it>out</it>. Many simulator tools capitalized on the "noisy" behavior of some systems and used formal models to represent cellular activities as temporal trajectories. Statistical methods have been applied to a fairly large number of replicated trajectories in order to infer knowledge.</p> <p>A tool which both graphically manipulates reactive models and deals with sets of simulation time-course data by aggregation, interpretation and statistical analysis is missing and could add value to simulators.</p> <p>Results</p> <p>We designed and implemented <it>Snazer</it>, the simulations and networks analyzer. Its goal is to aid the processes of visualizing and manipulating reactive models, as well as to share and interpret time-course data produced by stochastic simulators or by any other means.</p> <p>Conclusions</p> <p><it>Snazer </it>is a solid prototype that integrates biological network and simulation time-course data analysis techniques.</p

Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families

<p>Abstract</p> <p>Background</p> <p>Both recurrent and population specific mutations have been found in different areas of the world and more specifically in ethnically defined or isolated populations. The population of Slovenia has over several centuries undergone limited mixing with surrounding populations.</p> <p>The current study was aimed at establishing the mutation spectrum of <it>BRCA1/2 </it>in the Slovenian breast/ovarian cancer families taking advantage of a complete cancer registration database. A second objective was to determine the cancer phenotype of these families.</p> <p>Methods</p> <p>The original population database was composed of cancer patients from the Institute of Oncology Ljubljana in Slovenia which also includes current follow-up status on these patients. The inclusion criteria for the <it>BRCA1/2 </it>screening were: (i) probands with at least two first degree relatives with breast and ovarian cancer; (ii) probands with only two first degree relatives of breast cancer where one must be diagnosed less than 50 years of age; and (iii) individual patients with breast and ovarian cancer, bilateral breast cancer, breast cancer diagnosed before the age of 40 and male breast cancer without any other cancer in the family.</p> <p>Results</p> <p>Probands from 150 different families met the inclusion criteria for mutation analysis of which 145 consented to testing. A <it>BRCA1/2 </it>mutation was found in 56 (39%). Two novel large deletions covering consecutive exons of <it>BRCA1 </it>were found. Five highly recurrent specific mutations were identified (1806C>T, 300T>G, 300T>A, 5382insC in the <it>BRCA1 </it>gene and IVS16-2A>G in the <it>BRCA2 </it>gene). The IVS16-2A>G in the <it>BRCA2 </it>gene appears to be a unique founder mutation in the Slovenian population. A practical implication is that only 4 PCR fragments can be used in a first screen and reveal the cancer predisposing mutation in 67% of the <it>BRCA1/2 </it>positive families. We also observed an exceptionally high frequency of 4 different pathogenic missense mutations, all affecting one of the cryptic cysteine residues of the <it>BRCA1 </it>Ring Finger domain.</p> <p>Conclusion</p> <p>A high mutation detection rate and the frequent occurrence of a limited array of recurring mutations facilitate <it>BRCA1/2 </it>mutation screening in Slovenian families.</p

Predictive models for mutations in mismatch repair genes: implication for genetic counseling in developing countries

<p>Abstract</p> <p>Background</p> <p>Lynch syndrome (LS) is the most common form of inherited predisposition to colorectal cancer (CRC), accounting for 2-5% of all CRC. LS is an autosomal dominant disease characterized by mutations in the mismatch repair genes mutL homolog 1 (MLH1), mutS homolog 2 (MSH2), postmeiotic segregation increased 1 (PMS1), post-meiotic segregation increased 2 (PMS2) and mutS homolog 6 (MSH6). Mutation risk prediction models can be incorporated into clinical practice, facilitating the decision-making process and identifying individuals for molecular investigation. This is extremely important in countries with limited economic resources. This study aims to evaluate sensitivity and specificity of five predictive models for germline mutations in repair genes in a sample of individuals with suspected Lynch syndrome.</p> <p>Methods</p> <p>Blood samples from 88 patients were analyzed through sequencing MLH1, MSH2 and MSH6 genes. The probability of detecting a mutation was calculated using the PREMM, Barnetson, MMRpro, Wijnen and Myriad models. To evaluate the sensitivity and specificity of the models, receiver operating characteristic curves were constructed.</p> <p>Results</p> <p>Of the 88 patients included in this analysis, 31 mutations were identified: 16 were found in the MSH2 gene, 15 in the MLH1 gene and no pathogenic mutations were identified in the MSH6 gene. It was observed that the AUC for the PREMM (0.846), Barnetson (0.850), MMRpro (0.821) and Wijnen (0.807) models did not present significant statistical difference. The Myriad model presented lower AUC (0.704) than the four other models evaluated. Considering thresholds of ≥ 5%, the models sensitivity varied between 1 (Myriad) and 0.87 (Wijnen) and specificity ranged from 0 (Myriad) to 0.38 (Barnetson).</p> <p>Conclusions</p> <p>The Barnetson, PREMM, MMRpro and Wijnen models present similar AUC. The AUC of the Myriad model is statistically inferior to the four other models.</p

Complex proximal humerus fractures: Hertel’s criteria reliability to predict head necrosis

Background: The risk of post-traumatic humeral head avascular necrosis (AVN), regardless of the treatment, has a high reported incidence. In 2004, Hertel et al. stated that the most relevant predictors of ischemia after intracapsular fracture treated with osteosynthesis are the calcar length, medial hinge integrity and some specific fracture types. Based on Hertel’s model, the purpose of this study is to evaluate both its reliability and weaknesses in our series of 267 fractures, assessing how the anatomical configuration of fracture, the quality of reduction and its maintenance were predictive of osteonecrosis development, and so to suggest a treatment choice algorithm. Materials and methods: A retrospective study, level of evidence IV, was conducted to duly assess the radiographic features of 267 fractures treated from 2004 to 2010 following Hertel’s criteria treated with open reduction and internal fixation by angular stability plates and screws. The average age was 65.2&nbsp;years. The average follow-up was 28.3&nbsp;±&nbsp;17.0&nbsp;months. The percentage of AVN, the quality and maintenance of reduction obtained during surgery were evaluated. Results: The AVN incidence was 3.7&nbsp;%. No significant correlation with gender, age and fracture type was found. At the last follow-up X-ray, only 30&nbsp;% presented all Hertel’s good predictors in the AVN group, 4.7&nbsp;% in the non-AVN group (p&nbsp;&lt;&nbsp;0.05). About quality of reduction in the AVN group, it was poor in 50&nbsp;%; while in the non-AVN group, it was poor in 3.4&nbsp;% (p&nbsp;&lt;&nbsp;0.05). Four patients with AVN were symptomatic, and three needed a second surgery. Conclusions: Hertel’s criteria are important in the surgical planning, but they are not sufficient: an accurate evaluation of the calcar area fracture in three planes is required. All fractures involving calcar area should be studied with CT. Level of evidence: IV

Hertel 7 fracture of the humeral head. Can two different fixation systems (Diphos/PHP) lead to different outcomes? A retrospective study

OBJECTIVE: To compare clinical outcomes and complication rates in the medium-to-long-term follow-up of Hertel 7 humeral head fractures treated with two different locking plates. MATERIALS AND METHODS: A total of 52 patients with type 7 humeral head fracture (in accordance with Hertel classification) were enrolled retrospectively: 24 patients [4 male, 20 female; mean age (standard deviation [SD]): 68.9 (5.8) years] were treated with Diphos H plate (Group A) and 28 patients [6 male, 22 female; mean age (SD): 61.0 (7.5) years] with Proximal Humeral Plate (PHP; Group B). The mean follow-up periods were 25.6 and 18.9 months, respectively. Functional outcomes were assessed using the Constant score and Disabilities of the Arm, Shoulder and Hand (DASH) score; X-ray evaluation was also performed and complications were recorded. RESULTS: The mean Constant score in the Diphos and PHP groups at follow-up were 75.6 (SD 13.4) and 78.9 (SD 12.8), respectively (p>0.05). The DASH score was similar in both groups (Diphos: 18.6, range 0-51.5; PHP: 16.8, range 0-47.8) (p>0.05). In our series, 9.6% of patients had complications; these included a case of aseptic non-union and a case of avascular necrosis of the humeral head in each group, and a secondary screw perforation in a patient treated with Diphos. CONCLUSIONS: In patients with Hertel 7 proximal humeral fractures, Diphos and PHP lead to similar satisfactory functional outcomes and are associated with low complication rates; this confirms that both are useful implants for the treatment of this pattern of fracture