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BACKGROUND: To evaluate transparency practices in randomized controlled trials (RCTs) in dentistry. METHODS: This meta-research study included RCTs in dentistry regardless of topic, methods, or level of detail reported. Only studies in English were considered. We searched PubMed for RCTs in dentistry published in English from December 31, 2016, to December 31, 2021. The screening was performed in duplicate, and data extracted included journal and author details, dental specialty, protocol registration, data and code sharing, conflict of interest declaration, and funding information. A descriptive analysis of the data was performed. We generated maps illustrating the reporting of transparency items by country of the corresponding author and a heat table reflecting reporting levels by dental specialty. RESULTS: A total of 844 RCTs were included. Only 12.86% of studies reported any information about data and code sharing. Protocol registration was reported for 50.36% of RCTs. Conflict of interest (83.41%) and funding (71.68%) declarations were present in most studies. Conflicts of interest and funding were consistently reported regardless of country or specialty, while data and code sharing had a low level of reporting across specialties, as well as low dissemination across the world. Protocol registration exhibited considerable variability. CONCLUSIONS: Considering the importance of RCTs for evidence-based dentistry, it is crucial that everyone who participates in the scientific production and dissemination process actively and consistently promotes adherence to transparent scientific standards, particularly registration of protocols, and sharing of data and code.

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PURPOSE: This systematic review investigated whether drug use is associated with the presence of oral lesions and periodontitis. METHODS: A search was performed for studies that analyzed the presence of periodontitis and/or oral lesions in users of crack, cocaine, and/or marijuana in the PubMed, Scopus, and Web of Science databases. Observational studies in English, Spanish, or Portuguese, without limitation of year, age, and sex, were included. Studies that did not evaluate periodontitis and oral lesions according to the eligibility criteria were excluded. Two authors independently performed study selection and data extraction using a standardized form. The risk of bias of studies included in the meta-analysis was assessed using the Joanna Briggs Institute Critical Appraisal Checklist. The meta-analysis included studies that investigated the association of drug use with the outcome. RESULTS: The initial search resulted in 9,279 articles, from which 16 studies with 15,434 participants were included in the review and 8 studies were included in the meta-analysis. Most studies that evaluated periodontitis in drug users and non-users found a positive association in users. Most studies that analyzed oral lesions reported a higher prevalence, association, or risk of oral lesions in drug users than in non-users. A critical evaluation identified a need to improve the control and reporting of confounding factors in studies on this topic. An association was found between periodontitis and the use of crack, cocaine, and/or marijuana (odds ratio [OR], 1.84; 95% confidence interval [CI], 1.04-3.27; P=0.04) and between oral lesions and the use of these drugs (OR, 2.13; 95% CI, 1.58-2.86; P<0.001). CONCLUSIONS: Drug users are more likely to develop oral lesions and periodontitis than non-users. However, the results should be interpreted with caution, considering the heterogeneity and quality of the studies included in the analysis.

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BACKGROUND AND OBJECTIVES: This study aimed to assess the gender gap in randomized controlled trials (RCTs) in dentistry in terms of authorship, collaborations, metrics, funding and reporting of good research practice and transparecy. METHODS: The search was performed in PubMed for RCTs restricted to English texts in the dental field, indexed from 12/31/2016 to 12/31/2021. Two reviewers screened the studies in line with the eligibility criteria. A total of 844 articles were included. The name and gender of authors, citation metrics, funding, reporting of characteristics of good research practice and transparency were extracted. We considered "collaboration between authors" when the corresponding author was different from the first author. RESULTS: The proportion of women as first authors was 46.56% and 40.12% for corresponding authors. The analysis showed that when a woman is the corresponding author, the probability of the first author also being a woman is 57% higher compared to the first author being a man. For "protocol registration" and "data sharing," the prevalence of reporting was higher when women were first authors. CONCLUSION: A gender gap in dentistry RCTs was identified and related to the participation of women as first and corresponding authors and the collaboration between authors.

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The objective of this study was to map, through a scoping review, the evidence available in the literature on the use of platelet concentrates in compromised patients undergoing oral surgeries. Searches were performed in electronic databases for clinical studies with compromised patients undergoing oral surgery who used platelet concentrates. Only studies published in English were included. Two independent researchers carried out the selection of studies. The study design and objective, surgical procedure and platelet concentrate used, systemic involvement, analyzed outcome, and main results were extracted. A descriptive analysis of the data was performed. Twenty-two studies met the eligibility criteria and were included. Case series was the most frequent study design among the included studies (41.0%). In terms of systemic disability, 19 studies reported patients with cancer and related to surgical treatment 16 studies reported patients underwent treatment for osteonecrosis related to the use of the drug. The most used platelet concentrate was pure platelet-rich fibrin (P-PRF). In general, most studies recommend the use of platelet concentrates. Thus, the results of this study suggest that the evidence related to the use of platelet concentrates in compromised patients when undergoing oral surgeries is still initial. Also, most studies assessed the use of platelet concentrates in patients with osteonecrosis.

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Abstract The objective of this study was to map, through a scoping review, the evidence available in the literature on the use of platelet concentrates in compromised patients undergoing oral surgeries. Searches were performed in electronic databases for clinical studies with compromised patients undergoing oral surgery who used platelet concentrates. Only studies published in English were included. Two independent researchers carried out the selection of studies. The study design and objective, surgical procedure and platelet concentrate used, systemic involvement, analyzed outcome, and main results were extracted. A descriptive analysis of the data was performed. Twenty-two studies met the eligibility criteria and were included. Case series was the most frequent study design among the included studies (41.0%). In terms of systemic disability, 19 studies reported patients with cancer and related to surgical treatment 16 studies reported patients underwent treatment for osteonecrosis related to the use of the drug. The most used platelet concentrate was pure platelet-rich fibrin (P-PRF). In general, most studies recommend the use of platelet concentrates. Thus, the results of this study suggest that the evidence related to the use of platelet concentrates in compromised patients when undergoing oral surgeries is still initial. Also, most studies assessed the use of platelet concentrates in patients with osteonecrosis.

Resumo O objetivo do estudo foi mapear, através de uma revisão de escopo, as evidências disponíveis na literatura sobre o uso de agregrantes plaquetários em pacientes comprometidos e que realizaram cirurgias odontológicas. Pesquisas foram realizadas em bases de dados por estudos clínicos com pacientes comprometidos que realizaram cirurgia odontológica e usaram agragantes plaquetários. Apenas estudos em inglês foram incluídos. Dois pesquisadores independentes realizaram a seleção dos estudos. Os seguintes dados foram extraídos: desenho do estudo, objetivo, procedimento cirúrgico, agregante plaquetário usado, envolvimento sistêmico, desfecho analisado e principais resultados. Uma análise descritiva dos dados foi realizada. Vinte e dois estudos preencheram os critérios de elegibilidade e foram incluídos. Série de casos foi o desenho de estudo mais frequente entre os estudos incluídos (41,0%). Em relação ao comprometimento sistêmico, 19 estudos reportaram pacientes com câncer e em relação ao tratamento cirúrgico, 16 estudos reportaram pacientes que realizavam tratamento para osteonecrose relacionada ao uso de medicamentos. O agregante mais utilizado foi o plasma rico em fribina (P-PRF). Em geral, maioria dos estudos recomendou o uso dos agregantes plaquetários. Assim, os resultados desse estudo sugerem que a evidência relacionada ao uso de agregantes plaquetários em pacientes comprometidos que realizam cirurgia odontológica é ainda inicial. Ainda, a maioria dos estudos avaliaram o uso de agregantes plaquetários em pacientes com osteonecrose.

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CYP21A2 deficiency represents 95% of congenital adrenal hyperplasia (CAH) cases, a group of genetic disorders that affect steroid biosynthesis. The genetic and functional analysis provide critical tools to elucidate complex CAH cases. One of the most accessible tools to infer the pathogenicity of new variants is in silico prediction. Here, we analyzed the performance of in silico prediction tools to categorize missense single nucleotide variants (SNVs) of CYP21A2. SNVs of CYP21A2 characterized in vitro by functional assays were selected to assess the performance of online single and meta predictors. SNVs were tested separately or in combination with the related phenotype (severe or mild CAH form). In total, 103 SNVs of CYP21A2 (90 pathogenic and 13 neutral) were used to test the performance of 13 single-predictors and four meta-predictors. All SNVs associated with the severe phenotypes were well categorized by all tools, with an accuracy of between 0.69 (PredictSNP2) and 0.97 (CADD), and Matthews' correlation coefficient (MCC) between 0.49 (PoredicSNP2) and 0.90 (CADD). However, SNVs related to the mild phenotype had more variation, with the accuracy between 0.47 (S3Ds&GO and MAPP) and 0.88 (CADD), and MCC between 0.18 (MAPP) and 0.71 (CADD). From our analysis, we identified four predictors of CYP21A2 variant pathogenicity with good performance, CADD, ConSurf, DANN, and PolyPhen2. These results can be used for future analysis to infer the impact of uncharacterized SNVs in CYP21A2.

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Purpose: This study evaluated the prevalence of dental implant positioning errors and the most frequently affected oral regions. Materials and Methods: A sample was obtained of CBCT images of 590 dental implants from 230 individuals who underwent diagnosis at a radiology center using cone-beam computed tomography from 2017 to 2020. The following variables were considered: thread exposure, violation of the minimum distance between 2 adjacent implants and between the implant and tooth, and implant contact with anatomical structures. Descriptive data analysis and the Pearson chi-square test (P<0.05) were performed to compare findings according to mouth regions. Results: Most (74.4%) of the 590 implants were poorly positioned, with the posterior region of the maxilla being the region most frequently affected by errors. Among the variables analyzed, the most prevalent was thread exposure (54.7%), followed by implant contact with anatomical structures, violation of the recommended distance between 2 implants and violation of the recommended distance between the implant and teeth. Thread exposure was significantly associated with the anterior region of the mandible (P<0.05). The anterior region of the maxilla was associated with violation of the recommended tooth-implant distance (P<0.05) and the recommended distance between 2 adjacent implants (P<0.05). Implant contact with anatomical structures was significantly more likely to occur in the posterior region of the maxilla (P<0.05). Conclusion: Many implants were poorly positioned in the posterior region of the maxilla. Thread exposure was particularly frequent and was significantly associated with the anterior region of the mandible.

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Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction and functional studies are often the only way to classify variants to understand the links to disease-causing effects. Here we investigated the pathogenicity of uncharacterized variants in the CYP21A2 gene reported in Brazilian and Portuguese populations. Physicochemical alterations, residue conservation, and effect on protein structure were accessed by computational analysis. The enzymatic performance was obtained by functional assay with the wild-type and mutant CYP21A2 proteins expressed in HEK293 cells. Computational analysis showed that p.W202R, p.E352V, and p.R484L have severely impaired the protein structure, while p.P35L, p.L199P, and p.P433L have moderate effects. The p.W202R, p.E352V, p.P433L, and p.R484L variants showed residual 21OH activity consistent with the simple virilizing phenotype. The p.P35L and p.L199P variants showed partial 21OH efficiency associated with the non-classical phenotype. Additionally, p.W202R, p.E352V, and p.R484L also modified the protein expression level. We have determined how the selected CYP21A2 gene mutations affect the 21OH activity through structural and activity alteration contributing to the future diagnosis and management of CYP21A2 deficiency.

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PURPOSE: To evaluate the impact of prior use of corticosteroids before dental extractions on oral health-related quality-of-life (OHRQoL). METHODS: A randomized and triple-blind (patient, surgeon, and examiner) clinical trial was designed. The individuals were randomly allocated to 2 groups: test and placebo. In the test group, 2 capsules of 4 mg dexamethasone were administered orally. In the placebo group, subjects received 2 capsules with the same characteristics. In both groups, the administration took place 1 hour before the procedure. OHRQoL was assessed by the Brazilian version of Oral Health Impact Profile 14 (OHIP-14). The OHIP-14 questionnaire and the assessment methods for clinical parameters were collected preoperatively and postoperatively. Multilevel linear regression models fitted the associations between preoperative use of corticosteroids and overall and domain-specific OHIP-14 scores over time. RESULTS: One hundred fourteen patients were selected for the study; however, 21 were excluded for not returning to postoperative control on the seventh day, resulting in 93 patients assessed (test = 44 and placebo = 49). The pain had a negative impact on OHRQoL (P < .01); however, the use of the drug had no statistically significant influence on OHRQoL (P = .62) and the clinical outcomes of pain (P = .63), mouth aperture (P = .05), and edema (P = .69). CONCLUSIONS: The use of the 8 mg dexamethasone administered orally before the procedure was not effective on the improvement of the quality-of-life of patients undergoing dental extraction. However, using the medication seems to result in an improvement in the postoperative period of patients who had impacted teeth. Further research involving the analysis of OHRQoL must be performed, and other dosages and means of administration must be tested.

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Cystic fibrosis (CF) is a genetic disease caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are over 2,000 different pathogenic and non-pathogenic variants described in association with a broad clinical heterogeneity. In this work, we identified a novel variant S511Lfs*2 in CFTR gene that has not been reported in patients with CF. The patient was a female genotyped with c.1000C>T (legacy name: R334W) variant (pathogenic, CF-causing) and the novel variant (S511Lfs*2). We verified the amino acid sequence, the protein structure, and predicted the pathogenicity employing computational analysis. Our findings showed that S511Lfs*2 is a frameshift variant and suggest that it is associated with severe CF phenotype, as it leads to a lack of CFTR protein synthesis, and consequently the loss of its functional activity.

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INTRODUCTION: The incorporation of molecular genetic testing into cystic fibrosis (CF) screening programs increases the specificity of the diagnostic strategy and has the potential to decrease the rate of false- positive results. In this sense, our objective was to develop a genotyping assay that could detect 25 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene with high sensitivity and that could be incorporated into the routine of newborn screening, complementing the current existing protocol used in our public health institution. METHODS: A mini-sequencing assay was standardized using single-base extension in a previously genotyped control sample. This strategy was validated in a Brazilian cohort of CF patients by Sanger sequencing. RESULTS: The inclusion of the 25 variants in the current newborn screening program increased the identification rates of two alleles from 33 to 52.43% in CF patients. This new approach was able to detect a total of 37 variants, which represents 93.01% of all mutated alleles described in the last CF Brazilian Register. CONCLUSIONS: Mini-sequencing for the simultaneous detection of 25 CFTR gene variants improves the screening of Brazilian newborns and decreases the number of inconclusive cases. This method uses minimal hands-on time and is suited for rapid screening, which reduces sample processing costs.

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The nematicidal effect of different organic materials was evaluated in order to develop a non-chemical alternative soil treatment for control of the free-living stages of small ruminant gastrointestinal nematodes. The selected organic materials were residues from the juice industry of acerola, cashew, grape, guava, papaya and pineapple, as well as castor residue from the biodiesel industry. LC90 results showed that pineapple residue was the most efficient inhibitor of larval development, followed by castor, grape, cashew, acerola, guava and papaya. Castor residue was also a good source of nitrogen and was used in a greenhouse experiment to prevent larval development in contaminated goat faeces that was deposited in pots containing the grasses Brachiaria brizantha (var. Paiaguás) or Megathyrsus maximus x M. infestum (var. Massai). Castor residue caused a significant (P < 0.05) reduction (85.04%) in Paiaguás grass contamination (L3.dry mass-1) and a reduction of 17.35% in Massai grass contamination (P > 0.05), with an increase in the biomass production of Massai (251.43%, P < 0.05) and Paiaguás (109.19%, P > 0.05) grasses. This strategy, called Econemat®, with good results in vitro shows to be promising on pasture increasing phytomass production.

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Abstract The nematicidal effect of different organic materials was evaluated in order to develop a non-chemical alternative soil treatment for control of the free-living stages of small ruminant gastrointestinal nematodes. The selected organic materials were residues from the juice industry of acerola, cashew, grape, guava, papaya and pineapple, as well as castor residue from the biodiesel industry. LC90 results showed that pineapple residue was the most efficient inhibitor of larval development, followed by castor, grape, cashew, acerola, guava and papaya. Castor residue was also a good source of nitrogen and was used in a greenhouse experiment to prevent larval development in contaminated goat faeces that was deposited in pots containing the grasses Brachiaria brizantha (var. Paiaguás) or Megathyrsus maximus x M. infestum (var. Massai). Castor residue caused a significant (P < 0.05) reduction (85.04%) in Paiaguás grass contamination (L3.dry mass-1) and a reduction of 17.35% in Massai grass contamination (P > 0.05), with an increase in the biomass production of Massai (251.43%, P < 0.05) and Paiaguás (109.19%, P > 0.05) grasses. This strategy, called Econemat®, with good results in vitro shows to be promising on pasture increasing phytomass production.

Resumo O efeito nematicida de diferentes materiais orgânicos foi avaliado, com o objetivo de desenvolver um tratamento alternativo não químico do solo para o controle dos estágios de vida livre de nematoides gastrintestinais de pequenos ruminantes. Os materiais orgânicos selecionados foram resíduos da indústria de suco de acerola, caju, uva, goiaba, mamão e abacaxi, além do resíduo de mamona da indústria de biodiesel. Os resultados da LC90 mostraram que o resíduo de abacaxi foi o mais eficiente inibidor do desenvolvimento larval, seguido pela mamona, uva, caju, acerola, goiaba e mamão. O resíduo de mamona também se mostrou uma boa fonte de nitrogênio, sendo usado em experimento em casa de vegetação para prevenir o desenvolvimento larval em fezes contaminadas, depositadas em vasos, contendo as gramíneas Brachiaria brizantha (var. Paiaguás) ou Megathyrsus maximus x M. infestum (var. Massai). O resíduo de mamona reduziu (85,04%) significativamente (P < 0,05) a contaminação no capim-Paiaguás (L3.dry massa-1), 17,35% no capim Massai (P> 0,05), e aumentou a produção de biomassa das gramíneas Massai (251,43%, P <0,05) e Paiaguás (109,19%, P> 0,05). Essa estratégia, chamada Econemat®, com bons resultados in vitro, mostra-se promissora nas pastagens aumentando a produção de fitomassa.

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Abstract Objective: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. Results: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. Conclusions: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

Resumo Objetivo: Descrever os resultados obtidos em um programa de triagem neonatal após sua implementação e avaliar os perfis clínicos e moleculares de casos confirmados e suspeitos de hiperplasia adrenal congênita. Métodos: Foi feito um estudo transversal. Recém-nascidos com suspeita da doença devido aos altos níveis de 17-alfa-hidroxiprogesterona e ajustados pelo peso ao nascer foram selecionados. A hiperplasia adrenal congênita clássica (forma perdedora de sal e forma virilizante simples) foi diagnosticada por um aumento nos níveis de 17-alfa-hidroxiprogesterona confirmado no reteste, avaliação clínica e genótipo determinado com o uso do ensaio SNaPshot e amplificação multiplex de sondas dependente de ligação. Resultados: Após 24 meses, 15 casos clássicos de hiperplasia adrenal congênita foram diagnosticados em 217.965 recém-nascidos, com uma incidência estimada de 1:14.531. De 132 pacientes, sete não clássicos e 14 heterozigotos foram submetidos à triagem para mutações no gene CYP21A2 e 96 pacientes apresentaram resultados falso-positivos com CYP21A2 do tipo selvagem. No reteste, níveis aumentados de 17-alfa-hidroxiprogesterona foram encontrados em pacientes com hiperplasia adrenal congênita clássica e mostraram correlação significativa com HAC clássica relacionada ao genótipo. As mutações mais frequentes foram IVS2-13A/C>G, seguidas de deleção gênica ou eventos de rearranjo na forma clássica. Em casos de doenças não clássicas e heterozigose, a mutação p.Val282Leu foi a mais comum. Conclusões: Os resultados ressaltam a eficácia da triagem neonatal para a hiperplasia adrenal congênita no sistema público de saúde e indicam que a estratégia adotada foi adequada. A segunda coleta de amostras, juntamente com a genotipagem dos casos suspeitos, ajudou a diagnosticar adequadamente os casos graves e mais leves e diferenciá-los de pacientes com resultado falso-positivo.

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OBJECTIVE: To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. METHODS: A cross-sectional study was conducted. Newborns with suspected disease due to high 17-hydroxyprogesterone levels and adjusted for birth weight were selected. Classical congenital adrenal hyperplasia (salt-wasting and simple virilizing forms) was diagnosed by an increase in 17-hydroxyprogesterone levels as confirmed in the retest, clinical evaluation, and genotype determined by SNaPshot and multiplex ligation-dependent probe amplification. RESULTS: After 24 months, 15 classic congenital adrenal hyperplasia cases were diagnosed in a total of 217,965 newborns, with an estimated incidence of 1:14,531. From 132 patients, seven non-classical and 14 heterozygous patients were screened for CYP21A2 mutations, and 96 patients presented false positives with wild type CYP21A2. On retest, increased 17-hydroxyprogesterone levels were found in classical congenital adrenal hyperplasia patients and showed significant correlation with genotype-related classical genital adrenal hyperplasia. The most frequent mutations were IVS2-13A/C>G followed by gene deletion or rearrangement events in the classical form. In non-classical and heterozygous diseases, p.Val282Leu was the most common mutation. CONCLUSIONS: The results underscore the effectiveness of congenital adrenal hyperplasia neonatal screening in the public health system and indicate that the adopted strategy was appropriate. The second sample collection along with genotyping of suspected cases helped to properly diagnose both severe and milder cases and delineate them from false positive patients.

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The nematicidal effect of different organic materials was evaluated in order to develop a non-chemical alternative soil treatment for control of the free-living stages of small ruminant gastrointestinal nematodes. The selected organic materials were residues from the juice industry of acerola, cashew, grape, guava, papaya and pineapple, as well as castor residue from the biodiesel industry. LC90 results showed that pineapple residue was the most efficient inhibitor of larval development, followed by castor, grape, cashew, acerola, guava and papaya. Castor residue was also a good source of nitrogen and was used in a greenhouse experiment to prevent larval development in contaminated goat faeces that was deposited in pots containing the grasses Brachiaria brizantha (var. Paiaguás) or Megathyrsus maximus x M. infestum (var. Massai). Castor residue caused a significant (P 0.05) reduction (85.04%) in Paiaguás grass contamination (L3.dry mass-1) and a reduction of 17.35% in Massai grass contamination (P > 0.05), with an increase in the biomass production of Massai (251.43%, P 0.05) and Paiaguás (109.19%, P > 0.05) grasses. This strategy, called Econemat®, with good results in vitro shows to be promising on pasture increasing phytomass production.(AU)

O efeito nematicida de diferentes materiais orgânicos foi avaliado, com o objetivo de desenvolver um tratamento alternativo não químico do solo para o controle dos estágios de vida livre de nematoides gastrintestinais de pequenos ruminantes. Os materiais orgânicos selecionados foram resíduos da indústria de suco de acerola, caju, uva, goiaba, mamão e abacaxi, além do resíduo de mamona da indústria de biodiesel. Os resultados da LC90 mostraram que o resíduo de abacaxi foi o mais eficiente inibidor do desenvolvimento larval, seguido pela mamona, uva, caju, acerola, goiaba e mamão. O resíduo de mamona também se mostrou uma boa fonte de nitrogênio, sendo usado em experimento em casa de vegetação para prevenir o desenvolvimento larval em fezes contaminadas, depositadas em vasos, contendo as gramíneas Brachiaria brizantha (var. Paiaguás) ou Megathyrsus maximus x M. infestum (var. Massai). O resíduo de mamona reduziu (85,04%) significativamente (P 0,05) a contaminação no capim-Paiaguás (L3.dry massa-1), 17,35% no capim Massai (P> 0,05), e aumentou a produção de biomassa das gramíneas Massai (251,43%, P 0,05) e Paiaguás (109,19%, P> 0,05). Essa estratégia, chamada Econemat®, com bons resultados in vitro, mostra-se promissora nas pastagens aumentando a produção de fitomassa.(AU)

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Cystic fibrosis newborn screening was implemented in Brazil by the Public Health System in 2012. Because of cost, only 1 mutation was tested - p.Phe508del. We developed a robust low-cost genetic test for screening 11 CFTR gene mutations with potential use in developing countries.

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BACKGROUND: Steroid 21-hydroxylase deficiency due to CYP21A2 gene mutations represents more than 90% of all congenital adrenal hyperplasia cases. This deficiency is screened by measuring levels of 17-hydroxyprogesterone, which may vary, causing false positive or false negative results. In order to assist the diagnosis, molecular methodologies have been employed. This work aimed to perform genotyping assays to detect mutations in the CYP21A2 gene and compare the findings with other population studies. METHODS: The SNaPshot assay was developed to simultaneously detect 12 frequent point mutations in the CYP21A2 gene (p.Arg409Cys, p.Gln319Ter, p.Arg357Trp, p.Leu308PhefsTer6, p.Val237Glu, IVS2-13A/C > G, p.Ile173Asn, p.Pro31Leu, p.Pro454Ser, p.Val282Leu, p.Gly111ValfsTer21 and p.His63Leu). The direct sequencing and multiplex ligation-dependent probe amplification assays were used to confirm point mutations present in the developed method. The latter was also used to search large deletions and gene conversion, complementing the investigation. A total of 166 cases were studied. RESULTS: The SNaPshot assay was successfully developed to detect the 12 mutations. The results of mutation analysis indicated 84 pathogenic alleles in 48 cases, with p.Val282Leu (27.1%) and IVS2-13A/C > G (20.8%) being the most frequently found mutations. Between the findings of this study and those of other South American studies, there were significant differences in frequency for p.Pro31Leu and p.Val282Leu (p < 0.001). A new variant T in IVS2-13A/C > G was identified in two patients via the SNaPshot assay. CONCLUSION: The molecular strategy developed for CYP21A2 gene mutation screening allowed us to detect the principle mutations described around the world. Furthermore, the first Southern Brazilian mutation frequencies concerning the CYP21A2 gene were obtained.

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BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with accumulation of 17 hydroxyprogesterone (17-OHP). Early diagnosis of CAH based on newborn screening is possible before the development of symptoms and allows proper treatment, correct sex assignment, and reduced mortality rates. This study describes the results obtained in the first year of a public CAH screening program in the state of Rio Grande do Sul, Brazil. METHODS: We reviewed the screening database in search of babies with suspected CAH, that is, altered birth-weight adjusted 17-OHP values at screening. The following data were analyzed for this population: screening 17-OHP values, retest 17-OHP values, serum 17-OHP values for those with confirmed CAH on retest, maternal and newborn data, and family history of CAH. For the screening program, 17-OHP levels are determined on dried blood spots obtained in filter paper with GSP solid phase time-resolved immunofluorescence. RESULTS: Of 108,409 newborns screened, eight were diagnosed with CAH (four males, four females). The incidence of CAH in the state was 1:13,551. Six cases were identified as classic salt-wasting CAH and two were cases of virilizing CAH. The positive predictive value (PPV) of the initial screening (before diagnostic confirmation) was 1.6%. The overall rate of false positive results was 0.47%. The number of false positive results was higher among newborns with birth weight < 2000 g. CONCLUSION: The present results support the need for CAH screening by the public health care system in the state, and show that the strategy adopted is adequate. PPV and false positive results were similar to those reported for other states of Brazil with similar ethnic backgrounds.

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