WFS1 and non-syndromic low-frequency sensorineural hearing loss: A novel mutation in a Portuguese case

Low-frequency sensorineural hearing loss (LFSNHL) is an unusual type of HL in which frequencies at 2000 Hz and below are predominantly affected. Most of the families with LFSNHL carry missense mutations in WFS1 gene, coding for wolframin.     

Familial breast/ovarian cancer and BRCA1/2 genetic screening: the role of immunohistochemistry as an additional method in the selection of patients.

Only 20-25% of families screened for BRCA1/2 mutations are found positive. Because only a positive result is informative, we studied the role of BRCA1/2 immunohistochemistry as an additional method for patient selection. From 53 high-risk-affected probands, 18 (34%) had available paraffin blocks of their tumors and were selected for this study. Mutation screening was done by conformation-sensitive gel electrophoresis and multiplex ligation-dependent probe amplification. For immunohistochemistry, 21 neoplastic specimens (15 breast carcinomas, 5 ovary neoplasms, and 1 rectal adenocarcinoma) were analyzed with BRCA1 (monoclonal antibody, Ab-1, oncogene) and BRCA2 (polyclonal antibody, Ab-2, oncogene) antibodies. Absence of the BRCA1 protein was confirmed in negative tumors by Western blotting. Seven patients were positive for BRCA1/2 mutations: 5 for BRCA1 and 2 for BRCA2. Four out of five positive patients had tumors negative for BRCA1 immunostaining, and the remaining 13 BRCA1-negative patients had positive BRCA1 immunostaining in all tumor samples. Sensitivity to predict for BRCA1 mutation carriers was 80%, and specificity was 100%, with a positive predictive value of 100% and a negative predictive value of 93%. This correlation was statistically significant (p=0.001). No correlation was observed for BRCA2. If larger studies confirm these results, high-risk patients with BRCA1-negative tumors should be screened first for this gene.     

Chemical and behavioral defenses of the neotropical harvestman Camarana flavipalpi (Arachnida: Opiliones)

The defensive secretion of the harvestman Camarana flavipalpi (Gonyleptidae) was chemically characterized, revealing the presence of a single, highly volatile component (2-methyl-5-ethyl-phenol). Individuals do not frequently use chemical defenses and rely mainly on thanatosis as defense. Two types of emission of secretions were recorded: a globule at the gland opening without liquid displacement and liquid displacement along the lateral margins of the dorsal scute with accumulation of fluid at the lateroposterior area of the body. The anterior opening of the ozopore is covered by an integumentary dome that faces the laterodorsal area of the scute. The lateral channel is well defined near the opening of the ozopore and along the lateral margin of the dorsal scute as rows of small granules. The ozopore morphology of C. flavipalpi is similar to closely related species and simplified when compared with other species that promptly release chemical secretions.     

LCA applied to nano scale zero valent iron synthesis

Purpose

Application of zero valent iron nanoparticles is an innovative technology for ground water treatment and soil remediation. There are several methods to synthesise nano scale zero valent iron (nZVI), namely through bottom-up methods which consists on chemical reactions using strong reducing agents. In this work, the environmental impacts and costs were determined for two methods, namely the traditional one that uses sodium borohydride and the green method that uses extracts obtained from natural products.

Methods

The consideration of environment and economic aspects in the earlier stages of the synthesis processes and in the development of new materials is of great importance since it can help to decide if alternative methods are promising and should be further developed aiming more sustainable processes. In this work, life cycle assessment (LCA) was used as an ecodesign strategy evaluating environmental performance of the two synthesis methods, identifying critical stages of the synthesis processes of nZVI. An economic evaluation and a sensitivity analysis considering a different scenario for electricity production were also performed.

Results and discussion

The results obtained in this study showed that the green synthesis method presents lower environmental impacts than the traditional one, roughly 50% lower in the first scenario. In the second scenario, environmental impact of green synthesis corresponds to 38% of the environmental impact of traditional synthesis. In the green method, the critical stage is the extraction process which is closely related to the electricity production. In the traditional method, the reactant use is the critical stage that is related to the production of sodium borohydride. The economic evaluation indicated that the traditional synthesis method is much more expensive than the green synthesis (roughly eight times higher).

Conclusions

From the results obtained, it is possible to conclude that the green synthesis method presents lower environmental impacts in both scenarios and lower costs than the traditional synthesis.