Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder reported worldwide. A specific heterozygous mutation (c.617G> A; p.R206H) in the activin A type I receptor gene (ACVR1) is regarded as the genetic cause of FOP in all classically affected individuals worldwide. However, a few patients with FOP variants harbor distinct mutations in ACVR1. We screened a group of FOP Brazilian population for mutations in ACVR1. Of 16 patients with a classic FOP phenotype (10 males and 6 females, age range of 3-42 years), all had the classic mutation (p.R206H). One 21-year-old woman with a variant FOP phenotype had the previously reported c.983G> A mutation (p.G328E). Our study contributes to the understanding of the predominant FOP phenotype and genotype and suggests that variant FOP phenotypes are associated with specific mutations in ACVR1 gene.
No presente estudo foram aplicados 100 questionários (50 por grupo) com o objetivo de identificar quais os principais AINEs recomendados por médicos veterinários (G1) e vendedores/balconistas de lojas agropecuárias (G2) na região Nordeste do Brasil para o tratamento das afecções dos sistemas locomotor e digestório da espécie equina. Para as afecções do sistema locomotor: como primeira opção, a fenilbutazona foi descrita como principal AINE nos dois grupos (G1: 58% e G2: 28%). Como segunda opção, o flunixin meglumine foi o mais recomendado (G1: 32% e G2: 24%). Como terceira opção, o meloxicam foi o mais recomendado também por ambos (G1:26% e G2: 16%). Para as afecções do sistema digestório: como primeira opção, o flunixin meglumine foi o fármaco mais recomendado (G1: 54% e G2: 40%). Como segunda opção, para o G1, flunixin meglumine (36%) e para o G2, a dipirona (30%). Como terceira opção, para o G1, o meloxicam e o DMSO foram os mais citados (18% cada) e para o G2, a fenilbutazona (18%). Os AINEs não seletivos são os mais recomendados por veterinários e vendedores de lojas agropecuárias do Nordeste do Brasil para tratamento das afecções locomotoras e digestivas em equinos, enquanto que os inibidores seletivos para COX-2 ainda são pouco recomendados. O desconhecimento das dosagens técnicas foi constatado em ambos os grupos, com destaque para o G2. Medidas de controle na venda de AINEs e orientação sobre seu uso correto aos profissionais do cavalo fazem-se necessárias.
(150 words) 7AAA+ proteases are degradation machines, which exploit ATP hydrolysis to unfold protein substrates and 8 translocate them through a central pore towards a degradation chamber. FtsH, a bacterial membrane-9 anchored AAA+ protease, plays a vital role in membrane protein quality control. Although cytoplasmic 10 structures are described, the full-length structure of bacterial FtsH is unknown, and the route by which 11 substrates reach the central pore remains unclear. We use electron microscopy to determine the 3D map
The objective of this study was to evaluate the effect of the animal category, the cyclicity, the CIDR reuse, the body condition score (BCS), the inseminator and the bull on the fertility rates of bovine submitted to a FTAI protocol. It was observed that pluriparous demonstrated a higher fertility. The group With Corpus Luteum obtained a higher conception rate. The CIDR of 4th use reduced (P <0.05) the chance of conception. The chances of conception in cows of the Low BCS group were lower (P <0.05), than the cows with intermediate and high BCS. The inseminator and the bull exerted influence on the fertility. Therefore, all factors are important in FTAI programs.
In recent years, the design has been in evidence and showing the importance in leading companies. Then comes the strategic management of the design, an area of knowledge that aims to add value and competitive advantage to companies through a practical meeting. In this context, this research aims to evaluate the current scenario and projections of this knowledge to the market in the Manaus city, Amazonas, Brazil, and to highlight the importance of it as an important factor in project management. Therefore, we adopted the descriptive and quantitative research carried out data collection through a survey with the purpose of extracting data from key stakeholders: Designers and entrepreneurs. Reputable sources of information reveal that the inclusion of design in business has become a trend with the increasing competitiveness of the global market, in contrast, the results of this research show that the local market is still not a reality, but it is already taking the first steps, which tend in the long-term, increase to an advanced level of management.
Introduction: Chromogranin A (CGA) is a glycoprotein secreted by several neuroendocrine tissues; therefore, it is a good marker for neuroendocrine tumors, with high specificity for diagnosis and good correlation with disease progression, recurrence and treatment response. Several conditions may lead to "falsely elevated" values of this marker, but reports of occurrence of "falsely low" values due to the hook effect are rare. We report this effect detected in the laboratory evaluation of a patient with neuroendocrine tumor who presented conflicted results of CGA using two different techniques: a traditional immunofluorescence assay and a new directed proteomics method using liquid nanocromatography associated with high-resolution mass spectrometry. Case report: A 64-year-old male patient with chronic renal insufficiency undergoing treatment for a neuroendocrine lung tumor, during treatment progression the patient presented CGA of 359 ng / mL (RR <93 ng / mL) and 179 ng / mL (RR less than 93 ng / mL), both performed using immunofluorescence assay. Later on the follow up a new CGA measurement using guided proteomics methodology resulted in 204,538 ng / mL (RR less than 93 ng / mL), this same sample measurement performed using immunofluorescence assay was 261 ng / mL. This result discrepancy led to the suspicion of a hook effect, what was confirmed after the dilution of the samples (1: 25 and 1: 100) showed results higher than 80,000 ng / mL, which clearly demonstrated that the immunofluorescence assay underestimated the result by more than two orders of magnitude. Discussion and conclusion: The hook effect is a technical pitfall, characterized by the presence of falsely low levels of a substance, which is present in a very elevated concentration, much higher than expected. The most characterized hook effect is with prolactin and to the best of our knowledge; this is the first description of this effect in relation to CGA. The detection of falsely low value of CGA was only possible due to the use of this new technique. Targeted proteomics method is innovative, and proved to be able to give greater accuracy to the CGA result, leading to more appropriate treatment and follow-up for this patient.
Cervical cancer is the fourth most common cancer worldwide, and it is associated with human papillomavirus (HPV) infection. In general, most of cervical lesions regress spontaneously, indicating that HPV infection is not sufficient for inducing carcinogenesis. The immune system has a crucial role in HPV infection control, however there is still much to be investigated. Thus, this study aimed to identify the presence of Langerhans cells (LC, CD1a+) and activated T lymphocytes, induced by HPV-infection. The study enrolled 68 women, aged from 18 to 50 years old. From these, 17 were volunteers without cervical lesion, and 51 presenting HPV-related cervical intraepithelial neoplasia (CIN I-III, n=17 in each group). HPV-DNA was observed in 46 (90.2%) of 51 CIN volunteers, and all of women from the control group were HPV-negative. We observed an increase of CD45RA+ (naives) cells and CD45RO+ (activated, memory) cells distribution in the epithelium and basal layer of high-grade lesions (CIN II and/or CIN III) when compared with the control group. In relation to LC, our study showed a reduced number of these cells in low-grade lesions in all of investigated areas when compared with the control group, according to pre-malign lesions evolution. For CCL20 analysis, we observed an increased number of these chemokine-expressing cells in the stroma area, in relation to lesions severity. On the other hand, we observed a decrease of these cells in the epithelium. An increase of the distribution of CCR6+ (CCL20 receptor) cells in the basal layer of the epithelium in high-grade lesions (CIN II and III) occurred when compared with the control group. Thus, we concluded that LC and T lymphocytes migrate in direction to the epithelium area, where viral infection occurs, in association with the different cervical lesions degree. However, the inflammatory cells bordering the epithelial areas, focusing the stroma area, indicate that HPV can influence the lesions microenvironment, changing negatively the inflammatory cells recruitment to the site of infection.
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