GORLIN-GOLTZ SYNDROME: A CASE REPORT

Introdução: O Síndrome de Gorlin-Goltz é uma condição hereditária autossómica dominante rara caracterizada por: carcinomas basocelulares, queratoquistos odontogénicos, depressões palmo-plantares, calcificações da foice cerebral e malformações esqueléticas. Associa-se também a meduloblastoma e outras neoplasias. Caso Clínico: Adolescente de 11 anos, com antecedentes de macrocefalia. Referenciada à consulta de estomatologia por quistos mandibulares recidivantes. O exame anátomo-patológico revelou tratarem-se de queratoquistos odontogénicos, pelo que é encaminhada para a consulta de pediatria. Objetivamente, apresentava macrocefalia e facies “gros seiro” com bossas frontais e hipertelorismo. Efetuou estudo genético, que detetou mutação do gene PTCH1, confirmando a suspeita clínica. Discussão: Os queratoquistos odontogénicos são o achado mais representativo do síndrome de Gorlin-Goltz nas duas primeiras décadas de vida, sendo de extrema importância um elevado índice de suspeição por parte do pediatra, com especial relevância para as alterações minor. Após o estabelecimento do diagnóstico, é necessária uma equipa multidisciplinar para um adequado seguimento e tratamento atempado.Introduction: The Gorlin-Goltz syndrome is a rare autosomal dominant inherited condition characterized by: basal cell carcinomas, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. Medulloblastoma and other tumors are also associated with it. Case report: An 11-year-old female, with a history of macrocephaly, was referred to the Stomatology Department for recurrent mandibular cyst. Histopathological exam revealed odontogenic keratocysts, so the patient was referred to the Pediatric Department. Physical examination revealed macrocephaly and coarse face, with frontal bossing and hy pertelorism. The genetic study performed detected a mutation in PTCH1 gene, confirming the clinical suspicion. Discussion: Odontogenic keratocysts are the most representative finding in Gorlin-Goltz Syndrome in the first two decades of life, therefore a high suspicion level is mandatory among pediatricians concerning detection of minor changes. After the diagnosis, a multidisciplinary team is required for adequate follow-up and timely treatment

Identificação e caracterização de microssatélites de Coffea arabica a partir de dados de sequenciamento de RNA e de BACS.

O café é uma das principais commodities agrícolas mundiais, sendo consumido regularmente por 40% de toda população. As espécies, Coffea arabica L. e Coffea canephora P. são as de maior importância respondendo por 65% e 35% da produção mundial, respectivamente. Em C. arabica , o desenvolvimento de novas cultivares é demorado, podendo levar mais de 20 anos para finalização dos trabalhos. Além disso, estreita base genética de C. arabica dificulta a obtenção de cultivares resistentes a várias pragas e doenças, assim como uma maior tolerância a estresses abióticos. A utilização de marcadores moleculares para análise da diversidade e seleção de genótipos representa uma importante ferramenta para auxiliar o melhoramento e tentar diminuir esses problemas. Neste trabalho foi realizada identificação e análise in silico de SSR?s a partir de dados de RNA-seq de Iapar 59 e de sequências de BACs de Hibrido de Timor 832/2 (CaHT). Para Iapar 59 foram analisados 77 contigs, encontrados 39 SSR?s e desenhados 21 pares de oligonucleotídeos. Para CaHT foram analisados também 77 contigs, encontrados 35 SSR?s e desenhados 29 pares de oligonucleotídeos. Os motivos com maior frequência foram di, tri e tetranucleotídeos, sendo (AT) no motivo mais frequente entre os dois genótipos. Esta busca de sequências repetitivas é de grande importância para futura validação e aumento desses marcadores para estudos de diversidade genética, mapeamento, e a ssociação com características agronômicas de interesse

Using zeta-potential measurements to quantify peptide partition to lipid membranes

© The Author(s) 2011. This article is published with open access at Springerlink.com.Open Access: This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.Many cellular phenomena occur on the biomembranes. There are plenty of molecules (natural or xenobiotics) that interact directly or partially with the cell membrane. Biomolecules, such as several peptides (e.g., antimicrobial peptides) and proteins, exert their effects at the cell membrane level. This feature makes necessary investigating their interactions with lipids to clarify their mechanisms of action and side effects necessary. The determination of molecular lipid/water partition constants (Kp) is frequently used to quantify the extension of the interaction. The determination of this parameter has been achieved by using different methodologies, such as UV-Vis absorption spectrophotometry, fluorescence spectroscopy and ζ-potential measurements. In this work, we derived and tested a mathematical model to determine the Kp from ζ-potential data. The values obtained with this method were compared with those obtained by fluorescence spectroscopy, which is a regular technique used to quantify the interaction of intrinsically fluorescent peptides with selected biomembrane model systems. Two antimicrobial peptides (BP100 and pepR) were evaluated by this new method. The results obtained by this new methodology show that ζ-potential is a powerful technique to quantify peptide/lipid interactions of a wide variety of charged molecules, overcoming some of the limitations inherent to other techniques, such as the need for fluorescent labeling.This work was partially supported by project PTDC/QUI/ 69937/2006 from Fundação para a Ciência e Tecnologia-Ministério da Ciência, Tecnologia e Ensino Superior (FCT-MCTES, Portugal), and by Fundação Calouste Gulbenkian (Portugal). JMF and MMD also thank FCT-MCTES for grants IMM/BT/37-2010 and SFRH/BD/41750/2007, respectively

Dietary tryptophan deficiency and its supplementation compromises inflammatory mechanisms and disease resistance in a teleost fish

Tryptophan participates on several physiological mechanisms of the neuroendocrine-immune network and plays a critical role in macrophages and lymphocytes function. This study intended to evaluate the modulatory effects of dietary tryptophan on the European seabass (Dicentrarchus labrax) immune status, inflammatory response and disease resistance to Photobacterium damselae piscicida. A tryptophan deficient diet (NTRP); a control diet (CTRL); and two other diets supplemented with tryptophan at 0.13% (TRP13) and 0.17% (TRP17) of feed weight were formulated. Fish were sampled at 2 and 4 weeks of feeding and the remaining were i.p. injected with Phdp (3 × 106 cfu/fish) at 4 weeks and the inflammatory response (at 4, 24, 48 and 72 hours post-infection) as well as survival were evaluated. Results suggest that fish immune status was not altered in a tryptophan deficient scenario whereas in response to an inflammatory insult, plasma cortisol levels increased and the immune cell response was compromised, which translated in a lower disease resistance. When dietary tryptophan was offered 30% above its requirement level, plasma cortisol increased and, in response to bacterial infection, a decrease in lymphocytes, monocytes/macrophages and several immune-related genes was observed, also compromising at some degree fish disease resistance.This work was partially supported by Projects ALISSA (reference ALG-01-0247-FEDER-3520), IF/00197/2015 and INFLAMMAA (reference 02/SAICT/2017/032349), financed by Portugal and the European Union through FEDER, COMPETE 2020 and CRESC Algarve 2020, in the framework of Portugal 2020, and through the COMPETE and Operational Human Potential Programmes and national funds through Fundação para a Ciência e a Tecnologia (FCT, Portugal). M. Machado and B. Costas were supported by FCT, Portugal (SFRH/ BD/108243/2015 and IF/00197/2015, respectively). The authors also acknowledge Dr. Nuno Santos (i3S/IBMC) for critically reviewing the manuscript

Kinetic modeling and microbial assessment by fluorescent in situ hybridization in anaerobic sequencing batch biofilm reactors treating sulfate-rich wastewater

This paper reports the results of applying anaerobic sequencing batch biofilm reactors (AnSBBR) for treating sulfate-rich wastewater. The reactor was filled with polyurethane foam matrices or with eucalyptus charcoal, used as the support for biomass attachment. Synthetic wastewater was prepared with two ratios between chemical oxygen demand (COD) and sulfate concentration (COD/SO4(2-)) of 0.4 and 3.2. For a COD/SO4(2-) ratio of 3.2, the AnSBBR performance was influenced by the support material used; the average levels of organic matter removal were 67% and 81% in the reactors filled with polyurethane foam and charcoal, respectively, and both support materials were associated with similar levels of sulfate reduction (above 90%). In both reactors, sulfate-reducing bacteria (SRB) represented more than 65% of the bacterial community. The kinetic model indicated equilibrium between complete- and incomplete-oxidizing SRB in the reactor filled with polyurethane foam and predominantly incomplete-oxidizing SRB in the reactor filled with charcoal. Methanogenic activity seems to have been the determining factor to explain the better performance of the reactor filled with charcoal to remove organic matter at a COD/SO4(2-) ratio of 3.2. For a COD/SO4(2-) ratio of 0.4, low values of sulfate reduction (around 32%) and low reaction rates were observed as a result of the small SRB population (about 20% of the bacterial community). Although the support material did not affect overall performance for this condition, different degradation pathways were observed; incomplete oxidation of organic matter by SRB was the main kinetic pathway and methanogenesis was negligible in both reactors.This work was funded by the Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) and the Financiadora de Estudos e Projetos (FINEP), Brazil. The authors acknowledge the grants received from FAPESP and the Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Brazi

Blood derivatives awaken in regenerative medicine strategies to modulate wound healing

Blood components play key roles in the modulation of the wound healing process and, together with the provisional fibrin matrix ability to selectively bind bioactive molecules and control its spatial-temporal presentation, define the complex microenvironment that characterize this biological process. As a biomimetic approach, the use of blood derivatives in regenerative strategies has awakened as a source of multiple therapeutic biomolecules. Nevertheless, and despite their clinical relevance, blood derivatives have been showing inconsistent therapeutic results due to several factors, including proper control over their delivery mechanisms. Herein, we highlight recent trends on the use biomaterials to protect, sequester and deliver these pools of biomolecules in tissue engineering and regenerative medicine approaches. Particular emphasis is given to strategies that enable to control their spatiotemporal delivery and improve the selectivity of presentation profiles of the biomolecules derived from blood derivatives rich in platelets. Finally, we discussed possible directions for biomaterials design to potentiate the aimed regenerative effects of blood derivatives and achieve efficient therapies.BBM acknowledges the financial support from FCT/MCTES (Fundação para a Ciência e a Tecnologia/Ministério da Ciência, Tecnologia, e Ensino Superior) and the Fundo Social Europeu através do Programa Operacional do Capital Humano (FSE/POCH), PD/59/2013 for PD/BD/113807/2015. MGF acknowledges European Union's Horizon 2020 research and innovation programme under the Marie Skłodowska-Curie grant agreement No 706996 (PrinTendon). PB acknowledges RECOGNIZE and NORTE2020 (UTAP-ICDT/CTM-BIO/0023/2014). RMD acknowledges SFRH/BPD/112459/2015.info:eu-repo/semantics/publishedVersio

Fitodisponibilidade de nitrogênio em solo adubado com fertilizante mineral ou lodo de esgoto.

Com a publicação da Política Nacional de Resíduos Sólidos, o lodo de esgoto não poderá ser mais disposto em aterros sanitários. Assim, o uso agrícola se torna ainda mais atrativo. Embora a aplicação deste resíduo ao solo seja normatizada, alguns pontos ainda são questionados, destacando-se a dose calculada a partir da mineralização de nitrogênio quando é realizada mais de uma aplicação ao solo. Portanto, este estudo foi realizado com o objetivo de avaliar a disponibilidade de nitrogênio para plantas de milho em solos previamente tratados com lodo de esgoto. As avaliações foram realizadas em experimento de longo prazo, iniciado em 2001, no qual vem sendo realizada adubação com NPK, dose recomendada de lodo de esgoto ou o dobro desta dose. Concluiu-se que: (i) o teor e a quantidade absorvida de nitrogênio por plantas de milho em solo tratado sucessivamente com a dose recomendada de lodo de esgoto são maiores do que quando é realizada a adubação com NPK; (ii) a quantidade de N absorvida por plantas de milho cultivadas em solo com o dobro da dose recomendada não difere da quantidade absorvida com a adição da dose recomendada, indicando excesso de nitrogênio no solo e maior potencial de contaminação e (iii) a adição do dobro da dose recomendada de lodo de esgoto não resulta em maior produção de massa seca e produtividade quando comparada com a dose recomendada

Salmonella Typhimurium CARRIAGE at slaughter AFTER an enterocolitis outbreak in a swine herd

The aim of this study was to estimate the prevalence of slaughter pigs carrying Salmonella Typhimurium after a entericolitis outbreak in a commercial pig farm. A cross-sectional study was done during the slaughter of a batch of 86 animals. Mesenteric lymph nodes from 43 pigs were collected and pre-enriched in buffered peptone water (1:10) overnight at 37∞C Afterwards, aliquots of 1mL and 0.1mL were transferred to selenite-cystine and Rappaport-Vassiliadis broth, respectively. A loopful of each sample was streaked onto XLT4 and brilliant green agar plates, which were incubated at 37∞C for 24 hours. Salmonella was cultured in 23 out of 43 collected samples (53.48%). Salmonella Typhimurim (13 strains) and Salmonella enterica subs. enterica 1,4,5,12:i:- (10 strains) were isolated. These results indicated that the slaughter of pigs from batches previously affected by enteric salmonellosis may represent a high risk for pork contamination, since there is an positive association between infected pigs before slaughter and carcass contamination

Recomendações para prevenção da COVID-19 no meio rural na região Sul do Brasil.

O que é uma pandemia; Existe diferença entre coronavírus, SARS-CoV-2 e COVID-19; Quais são os principais sintomas de COVID-19; Como ocorre a transmissão; Os animais da propriedade rural podem me transmitir a doença; Mesmo morando na propriedade rural, é possível se contaminar com o coronavírus; Leite e carne podem transmitir a doença; O frio da região Sul pode deixar a doença mais séria; É fácil inativar ("matar") o vírus; Como utilizar a água sanitária para inativar o vírus; Quais as medidas para diminuir o risco de contaminação; Uso correto das máscaras e luvas.bitstream/item/213029/1/COT-103-online.pd