Abstract Congenital hypothyroidism (CH) may be caused by biallelic variants in the TSHR gene. CH due to thyroid dysgenesis has also been linked to pathogenic variants of the nucleotide kinase 2, homeobox 5 (NKX2-5) gene, which can also cause sudden cardiac death from ventricular arrhythmia. In particular, the NKX2-5 p.Arg25Cys missense variant has been repeatedly reported in patients with congenital heart defects and, more rarely, with hypogonadism. We report the case of a 7 year old boy with ventricular arrhythmias, thyroid dysgenesis and intellectual disability, born from consanguineous Tunisian parents. Exome sequencing and segregation analysis revealed two potentially relevant variants: the NKX2-5 p.Arg25Cys variant (maternally inherited), as well as a single heterozygous TSHR p.Gln90Pro variant (paternally inherited). Of note, a male sibling of the proband, presenting with intellectual disability only, carried the same two variants. No other TSHR variants, or other potentially relevant variants were identified. In this proband, despite the identification of variants in two genes potentially correlated to the phenotype, a definite genetic diagnosis could not be reached. This case report highlights the complexity of exome data interpretation, especially when dealing with families presenting complex phenotypes and variable expression of clinical traits.

Abstract Although widely used in medicine, separation technology, and other fields, the effects of cyclodextrins on the activities of phosphoryl transfer enzymes have not been previously evaluated. In vivo studies evaluated the function of cyclodextrins as active compounds. Despite the use of cyclodextrins as active compounds, the effects of cyclodextrins on hepatic and renal tissues remain to be fully elucidated. The primary objective of this study was to evaluate the effects of β- cyclodextrins, methyl-β-cyclodextrin (M-β- cyclodextrins), and (2-hydroxypropyl)-β-cyclodextrin (HP-β-cyclodextrins) on enzyme activities regulating the maintenance of energy homeostasis in the kidney and liver tissues in relation to toxicity. Serum levels of liver and kidney markers were measured, and oxidative stress parameters were assessed. After 60-day treatments, we observed that the administration of β-cyclodextrins and M-β-cyclodextrins inhibited the hepatic activity of pyruvate kinase, an irreversible enzyme within the glycolytic pathway. Additionally, administration of HP-β-cyclodextrins inhibited creatine kinase activity and increased the total sulfhydryl content in kidneys. Here, we demonstrated for the first time that β-cyclodextrins, M-β-cyclodextrins, and HP-β-cyclodextrins cause bioenergetic dysfunction in renal and hepatic tissues. These findings suggest that understanding the balance between cyclodextrins’ efficacy and adverse effects is essential for better accepting their use in medicine.

Abstract Objective: To present scientific evidence, based on a systematic review of the literature, on the benefit of brainstem implants in auditory rehabilitation and language development in children. Methods: A systematic search was used to identify studies that contain information about the benefit of brainstem implants in the auditory rehabilitation and language development of children. The review was conducted based on a structured literature search, following the Preferred Reporting Items for Systematic Reviews and Meta-analysis (PRISMA) checklist. The search was carried out in the PubMed, Web of Science and Scopus databases, using the combination “Auditory brainstem implants” AND “Pediatric”, without restriction of language, period, and location. The quality assessment of the articles was performed using the Study Quality Assessment Tools. Results: Regarding hearing, children with brainstem implants showed sound detection, access to most speech sounds, basic auditory perception skills, recognition of ambient sounds, recognition of some frequently used words and phrases, in addition to some closed-set word discrimination capability. Expressive and comprehensive language were identified in children using auditory brainstem implants, increasing significantly in the short and long terms in most cases; however, in some of the children, such skills remained stable. Conclusion: The auditory brainstem implant can be considered an effective alternative for children with cochlear malformation and/or auditory nerve deficiency and for those who cannot benefit from cochlear implant surgery.

Resumo A disparidade étnico-racial é uma inquietante adversidade que se faz vigente no contexto atual da sociedade brasileira. Durante a pandemia do Novo Coronavírus, diferentes países do mundo apontaram a relação entre esta e outras vulnerabilidades socioeconômicas e a mortalidade pelo vírus. A presente pesquisa objetivou analisar e fundamentar como a disparidade étnico-racial se fez presente durante a pandemia da COVID-19 contextualizando a problemática a partir da análise em duas cidades de médio porte, localizadas no Rio Grande do Sul: Rio Grande-RS e Pelotas-RS. O artigo foi baseado no método de abordagem hipotético-dedutivo, com participação da técnica de pesquisa bibliográfica junto ao estudo de caso, em que foram estimadas as taxas de mortalidade geral da população e as estratificadas entre brancos, pretos e pardos, baseadas nos dados do Registro Civil de Óbitos das cidades referidas. Os resultados obtidos no presente estudo apontam taxas de mortalidade entre pretos superiores às taxas entre os brancos (aumento de 36% em Rio Grande e 46% em Pelotas), similares a resultados obtidos em outros estudos que investigaram metrópoles brasileiras. Nesse ínterim, os achados deste estudo ampliam a problemática da disparidade étnico-racial no contexto da pandemia da COVID-19, para além das grandes metrópoles brasileiras, e evidenciam um problema estrutural em cidades de médio porte.

Abstract Ethnic-racial disparity is a disturbing adversity that is present in the current context of Brazilian society. During the New Coronavirus pandemic, different countries around the world pointed out the relationship between this and other socioeconomic vulnerabilities and mortality from the virus. This research aimed to analyze and substantiate how an ethnic-racial disparity was present during the COVID-19 pandemic, contextualizing the problem from the analysis of two medium-sized cities located in Rio Grande do Sul: Rio Grande, RS and Pelotas, RS. The article was based on the hypothetical-deductive approach method, with the use of the bibliographic research technique together with the case study, in which the general mortality rates of the population and the mortality stratified among whites, blacks and browns were estimated, based on data from the Civil Registry of Deaths in the cities mentioned. The results obtained in the present study show higher mortality rates among blacks than among whites (an increase of 36% in Rio Grande and 46% in Pelotas), similarly to results obtained in other studies that investigated Brazilian metropolises. In the meantime, the findings of this study expand the issue of ethnic-racial disparity in the context of the COVID-19 pandemic beyond the large Brazilian metropolises and highlight a structural problem in medium-sized cities.

Resumo Relatamos um caso de obtenção ex vivo de óvulos, guiada por ultrassonografia, para preservação da fertilidade em uma mulher com tumor ovariano borderline bilateral, para quem a recuperação transvaginal convencional foi considerada insegura, devido ao aumento do risco de disseminação de célulasmalignas. Foi realizada estimulação ovariana com gonadotrofinas. A cirurgia foi agendada de acordo com a resposta ovariana à estimulação gonadotrófica exógena; após ooforectomia por laparoscopia, ~ 37 horas após a maturação folicular, procedeu-se à recuperação extracorpórea de oócitos. Umtotal de 20 folículos ovarianos foi aspirado e 16 complexos cumulus foramobtidos, resultando na vitrificação de 12 oócitos maduros e de 3 oócitos imaturos amadurecidos in vitro. Nosso resultado enfatiza a viabilidade da recuperação ex vivo de oócitos maduros após estimulação ovariana controlada para mulheres com alto risco de disseminação maligna pela captação oocitária realizada convencionalmente pela via transvaginal.

Abstract We report a case of ultrasound-guided ex vivo oocyte retrieval for fertility preservation in a woman with bilateral borderline ovarian tumor, for whom conventional transvaginal oocyte retrieval was deemed unsafe because of the increased risk of malignant cell spillage. Ovarian stimulation with gonadotropins was performed. Surgery was scheduled according to the ovarian response to exogenous gonadotropic stimulation; oophorectomized specimens were obtained by laparoscopy, and oocyte retrieval was performed ~ 37 hours after the ovulatory trigger. The sum of 20 ovarian follicles were aspirated, and 16 oocytes were obtained.We performed vitrification of 12 metaphase II oocytes and 3 oocytes matured in vitro. Our result emphasizes the viability of ex vivo mature oocyte retrieval after controlled ovarian stimulation for those with high risk of malignant dissemination by conventional approach.

ABSTRACT: Effects of plasticizer types and whey protein concentrate (WPC) as coatings were evaluated on internal quality and shelf life of eggs stored for 42 days. Eggs were coated with WPC at 8 % solution combined with the plasticizers glycerol (GLY), sorbitol (SOR), and propylene glycol (PRO). The eggs were stored at 20 °C. Weight loss, Haugh Unit (HU), albumen and yolk pH, and yolk index (YI) were evaluated weekly from day 0 to 42 days. After, electron microscopy of the eggshell structure was performed. The data was submitted to the analysis of variance and the effects of treatment, storage time, and the interaction between these factors were evaluated. There was significant interaction between factors (treatment and periods) for weight loss (p < 0.0001), HU (p < 0.0001), albumen (p < 0.0001), and yolk pH (p < 0.0001), and YI (p < 0.0001). After 42 days, uncoated eggs showed greater weight loss (5.4 %), compared to WPC+GLY, (3.8 %), WPC+SOR (3.3 %) and WPC+PRO (3.9 %). Similar results were verified for HU at 42 days of storage. Uncoated eggs showed HU of 58.46 (B), while coated eggs showed higher values: WPC+GLY – 66.58 (A), WPC+SOR – 68.79 (A), and WPC + PRO – 71.53 (A). The plasticizers GLY, SOR and PRO, associated with WPC, demonstrated effectiveness in maintaining the quality of eggs throughout the 42 days of storage. However, WPC+SOR showed superiority in preserving quality integrity of eggs. This result can be related to the chemical structure of SOR, making the combination more efficient for storage.

Abstract The paper proposes, on the one hand, a reflection on the anthropological methodology. It analyzes how the disciplinary paradigm and research practices neither encourage nor require a systematic clarification of the implicit methodology. On the other hand, the prerogatives of the biographical method are presented, which allows for a sensitive ethnography that tries to be particularly attentive to the “person” factor. Finally, some testimonies of current Wichís women from Misión Nueva Pompeya in the Argentinian Chaco are introduced. These stories were mainly told in Spanish and one of them was translated from the Wichí by the author itself with a young Wichi student. In these testimonies, the protagonists reflect on the meaning of some verbal expressions, propose notional translations, and explain their contexts of use.

Resumen Este artículo se propone, en primer lugar, una reflexión sobre la metodología de trabajo en antropología; se observa cómo las prácticas de investigación y el paradigma disciplinario no favorecen y no requieren una aclaración sistemática de la metodología. En segundo lugar, se presentan las prerrogativas del método biográfico que permite una etnografía sensible y bien atenta a la “persona”. Por último, se introducen algunos testimonios de mujeres wichís del Chaco argentino que viven actualmente en Misión Nueva Pompeya. Se trata de relatos que fueron contados en castellano, uno de ellos traducido de la lengua wichí junto con un joven estudiante. En estos testimonios, los protagonistas reflexionan sobre el significado de algunas expresiones verbales, proponiendo traducciones nocionales y explicando sus contextos de uso.

Abstract After a brief characterization of the Wichi (or Weenhayek) people and their language, and pointing out the circumstances that gave rise to this dossier, the articles are critically reviewed by emphasizing in each case what can be considered as their original contribution. Likewise, a cross-cutting dialogue is established between the articles within each section (the people, the world, the word), and some problems of Wichi studies that cross the dossier as a whole are discussed: for instance, the importance of linguistic data in ethnographic research (and vice versa) or the technical, political and social implications of adopting a writing system for the Wichi/Weenhayek language.

Resumen Luego de dar una breve caracterización de los wichís (o weenhayek) y su lengua y puntualizar las circunstancias que dieron origen a este dossier, se reseñan críticamente los artículos que lo componen, enfatizando en cada caso en qué consiste su contribución original. Asimismo, se establece un diálogo trasversal entre los artículos de cada sección (la gente, el mundo, la palabra) y se discuten algunos problemas de los estudios wichís que atraviesan el dossier en su conjunto, como la importancia de los datos lingüísticos para la etnografía (y viceversa) o las implicancias técnicas, políticas y sociales de la adopción de un sistema de escritura para la lengua wichí/weenhayek.

ABSTRACT The objective with this research was to compare milk quality parameters among herds characterized by different levels of milk production. The research involved 1080 bulk milk samples collected from 30 dairy herds, which produce milk for Parmigiano Reggiano cheese, during three years. Each milk sample was analysed for fat, crude protein, titratable acidity, total bacterial count, somatic cells, coliform bacteria, and Clostridia spores. Least mean values were obtained by ANOVA using milk production intervals from 6000 to 7999 (L-group), from 8000 to 9999 (M-group), and from 10000 to 12000 kg/cow/lactation (H-group) as fixed milk production classes. Increased milk production was associated with a reduction in milk fat content (from 3.54 in the L-group milk to 3.29 g/100 g in the H-group milk). An improvement in the hygienic-sanitary quality of milk was observed with increasing milk production. In fact, a progressive decrease in the total bacterial count (from 95 in the L-group milk to 45 103 cfu/mL in the H-group milk), number of coliforms (from 2294 in the L-group milk to 1342 cfu/mL in the H-group milk), and somatic cell number (from 382 in the L-group milk to 209 103 cells/mL in the H-group milk) was observed with the increase in milk production level. Finally, it appears that higher milk yield is connected with significant positive effects on the lactodynamometric properties of milk.

RESUMO Racional: A devolução da funcionalidade contrátil da parede abdominal é uma das metas no reparo das hérnias abdominais. Contudo, o entendimento do core deve necessariamente fazer parte na escolha do método de avaliação desse desfecho. Objetivo: Avaliar o papel dos músculos da parede anterolateral na função da parede abdominal com base na correlação entre o sinal de ativação muscular obtido na eletromiografia de superfície e torque produzido durante testes de força validados. Métodos: A ativação dos músculos reto abdominal, oblíquo externo, e oblíquo interno e transverso foi avaliada por eletromiografia de superfície durante dois testes validados. Etapa: 1-A, contração isométrica em decúbito dorsal; 1-B, contração isométrica em decúbito lateral; 2-A, teste isocinético no Biodex; e 2-B, teste isométrico no Biodex. Resultados: Foram avaliados 20 voluntários saudáveis. O coeficiente de correlação linear entre os dados de valor quadrático médio/Pico obtidos análise do sinal da eletromiografia de superfície para cada músculo e o Pico de torque foram sempre <0,2 e estatisticamente insignificantes (p<0.05). A relação agonista/antagonista demonstrou correlação positiva, significativa e de fraca a moderada no músculo externo oblíquo (Pico, p=0,027; valor quadrático médio, 0,564). Os resultados eletromiografia de superfície estiveram positivamente correlacionados nos diferentes protocolos de contração abdominal e também com um questionário de atividade física diária. Conclusões: Não houve correlação entre o exame de eletromiografia de superfície e o torque mensurado por um instrumento validado, exceto em uma variável que não representa diretamente a geração de torque.

ABSTRACT Background: Restoring the contractile function to the abdominal wall is a major goal in hernia repair. However, the core understanding is required when choosing the method for outcome assessment. Aim: To assess the role of the anterolateral abdominal muscles on abdominal wall function in patients undergoing hernia repair by analysis of correlation between the surface electromyography activation signal of these muscles and torque produced during validated strength tests. Methods: Activation of the rectus abdominis, external oblique, and internal oblique/transverse abdominis muscles was evaluated by surface electromyography during two validated tests: Step: 1-A, isometric contraction in dorsal decubitus; 1-B, isometric contraction in lateral decubitus; 2-A, isokinetic Biodex testing; and 2-B, isometric Biodex testing. Results: Twenty healthy volunteers were evaluated. The linear correlation coefficient between root mean square/peak data obtained from surface electromyography signal analysis for each muscle and the peak torque variable was always <0.2 and statistically non-significant (p<0.05). The agonist/antagonist ratio showed a positive, significant, weak-to-moderate correlation in the external oblique (Peak, p=0.027; root mean square, 0.564). Surface electromyography results correlated positively among different abdominal contraction protocols, as well as with a daily physical activity questionnaire. Conclusions: There was no correlation between surface electromyography examination of the anterolateral abdominal wall muscles and torque measured by a validated instrument, except in a variable that does not directly represent torque generation.

RESUMO: Objetivou-se avaliar alguns padrões físico-quimicos do leite cru refrigerado em relação ao atendimento aos padrões de qualidade brasileiros em pequenas propriedades da Região Sul do Brasil. O teor de gordura, proteína bruta (PB), sólidos totais (ST), contagem de células somáticas (CCS) e contagem total em placas (CTP) do leite cru refrigerado de 78 pequenas propriedades foram analisadas mensalmente entre outubro de 2014 e fevereiro de 2017. Verificou-se que 96% das amostras atenderam às regulamentações brasileiras para teor de gordura, 87% para PB e 91% para ST. Os valores médios de CTP e CCS foram superiores aos limites máximos estabelecidos pela regulamentação brasileira. Pequenas propriedades da Região Sul do Brasil produzem leite com adequado padrão para os principais indicadores químicos. No entanto, existe uma lacuna importante no cumprimento das práticas higiênico-sanitárias, levando a altos níveis de leite cru refrigerado que não atendem os limites da regulamentação brasileira.

ABSTRACT: This study aimed to evaluates some physical chemical aspects of chilled raw milk that meet Brazilian quality standards in smallholder farms from southern Region of Brazil. The fat content, crude protein (CP), total solids (TS), somatic cell count (SCC), and total plate count (TPC) of the chilled raw milk from 78 smallholder farms was analyzed between Oct 2014 and Feb 2017. It was found that 96% of the samples met the Brazilian regulations for fat content, 87% for CP, and 91% for TS. The mean values of TPC and SCC were higher than the maximum limits established by Brazilian regulations. Smallholder farms from Southern Region of Brazil produce milk with an adequate standard for the main chemical indicators. However, there is an important gap in compliance with hygienic-sanitary practices, leading to high levels of chilled raw milk that does not meet the limits of Brazilian regulations.

Abstract In the last three decades the consumption of meats in Mexico has changed due to the variations in their prices and the income of the population. The present investigation analyzes the relationship between the income of the population and the demand for meats in Mexico from 1980 to 2016. The analysis of the demand was made from elasticities calculated by means of the almost ideal demand system model (AIDS). The results indicate that the consumption of chicken and sheep meat responds in greater proportion to the changes in the income of the population. Chicken meat has responded better to market changes, while the beef and pork industry faces international competition and the national poultry industry. It is concluded that the development of the meat industry in Mexico is subject to an improvement in the purchasing power of the population, in which case, the most benefited industry is chicken.

Resumen En las últimas tres décadas el consumo de carnes en México ha cambiado debido a las variaciones en sus precios y del ingreso de la población. La presente investigación analiza la relación entre el ingreso de la población y la demanda de carnes en México de 1980 a 2016. El análisis de la demanda se realizó a partir de elasticidades calculadas mediante el modelo sistema de demanda casi ideal (AIDS). Los resultados indican que el consumo de carne de pollo y ovino responden en mayor proporción a los cambios en el ingreso de la población. La carne de pollo ha respondido mejor a los cambios del mercado, mientras que la industria de carne de bovino y porcino se enfrentan a la competencia internacional y a la industria avícola nacional. Se concluye que el desarrollo de la industria de carne en México se encuentra sujeta a un mejoramiento del poder adquisitivo de la población, en cuyo caso, la industria más beneficiada es la de pollo.

RESUMO A prática da calagem pode influenciar a lixiviação de herbicidas nos solos, especialmente os com caráter ácido fraco, como é o caso do picloram. O estudo da lixiviação mantendo-se a estrutura do solo é um fator importante quando se busca compreender a dinâmica de herbicidas e possíveis impactos ambientais. Assim, objetivou-se avaliar o efeito da calagem na lixiviação do picloram em um Latossolo Vermelho Amarelo distrófico, em condições de campo, a partir de planta bioindicadora. O experimento foi organizado em delineamento inteiramente casualizado (DIC), no esquema de parcela subdividida, com fatorial na parcela. Os fatores da parcela corresponderam a duas condições de solo (sem e com calagem) e 5 concentrações do picloram (0; 384; 768; 1152; 1536 g ha-1), e o fator da subparcela foram 5 profundidades do solo (0-8, 8-16, 16-24, 24-32 e 32-40 cm), com quatro repetições. Tubos foram introduzidos no solo, onde, em parte dos tratamentos, aplicou-se calcário superficialmente. Após noventa dias, as diferentes doses do picloram foram aplicadas na superfície de cada tubo e os mesmos foram retirados após um acúmulo de 128 mm de chuva, para realização do bioensaio, com plantas de pepino (Cucumis sativus). Foram realizadas avaliações do desenvolvimento das plantas (fitointoxicação e biomassa da parte aérea) 21 dias após a semeadura. Concluiu-se que o picloram apresentou alta taxa de lixiviação em todas as condições estudadas e a calagem aumentou a lixiviação do picloram em doses inferiores a 768 g ha-1.

ABSTRACT The practice of liming may influence the leaching of herbicides in soils, especially those with weak acid character, such as picloram. The study on leaching, preserving soil structure, is an important factor when one intends to understand the dynamics of herbicides and environmental impacts. Thus, the effect of liming on picloram leaching in a dystrophic Red Yellow Latosol under field conditions was studied using a bioindicator plant. The experiment was set up in a completely randomized design (CRD), in split-plot scheme, with factorial in the plot. The factors of the plot corresponded to two soil conditions (presence and absence of liming) and 5 picloram concentrations (0; 384; 768; 1152; 1536 g ha-1), and the factor of the subplot was 5 soil depths (0-8, 8-16, 16-24, 24-32 and 32-40 cm), with four replicates. Pipes were introduced into the soil and, in part of the treatments, limestone was applied superficially. After ninety days, the different doses of picloram were applied on the surface of each pipe and these pipes were withdrawn after an accumulated rainfall of 128 mm, to perform the bioassay using cucumber plants (Cucumis sativus). Evaluations of plant development (phytotoxicity and shoot biomass) were carried out 21 days after sowing. It was concluded that picloram showed high leaching rate under all studied conditions and liming increased picloram leaching at doses lower than 768 g ha-1.

Abstract: Type 1 diabetes (T1D) is the result of the selective destruction of the pancreatic β-cells by T cells of the immune system. Although spleen is a secondary lymphoid organ, it is also involved in the T1D pathogenesis. However, the alterations in a variety of cellular processes of this disease need to be further understood. We aimed to analyze the benefits of resveratrol, and its complexed form on diabetic complications in the spleen of rats. To this end, we investigated important enzymes of phosphoryl transfer network, and Na+, K+-ATPase activity. Wistar rats were divided into non-diabetic groups: Control, Ethanol, Resveratrol, Hydroxypropyl-β-cyclodextrin, Resveratrol-hydroxypropyl-β-cyclodextrin, and diabetic groups with the same treatments. Diabetes was induced by a single dose of 60 mg/kg of streptozocin intraperitoneally, and treatments by intragastric gavage once daily for 60 days. Hyperglycemia reduced creatine kinase activity, which was reversed by the administration of resveratrol. Na+, K+-ATPase activity was greatly affected, but it was reversed by resveratrol and resveratrol-hydroxypropyl-β-cyclodextrin. This suggest an energetic imbalance in the spleen of diabetic rats, and in case this also occurs in the diabetic patients, it is possible that resveratrol supplementation could be beneficial to the better functioning of the spleen in diabetic patients.

Abstract: The orchid seed banks of Atlantic Forest may be considered a key strategy for the conservation of species threatened with extinction by indiscriminate collection or habitat destruction. The aim of this study was to evaluate the seed viability, to choose the best culture medium for the asymbiotic germination and evaluate germination, after storage for different periods and temperatures for the Brazilian native orchids: Gomesa praetexta (Rchb.f.) M.W.Chase & N.H.Williams, Gomesa forbesii (Hook.) M.W.Chase & N.H.Williams, Gomesa recurva R.Br. and Grandiphyllum divaricatum (Lindl.) Docha Neto. Knudson C (KC), Murashige & Skoog (MS), half-strength MS (1/2 MS macro- and micro-nutrients) and Woody Plant Medium (WPM) culture media were tested for germination. The WPM culture medium was the best for asymbiotic germination of all species evaluated, with high germination percentages and improved seedling development. Seeds of G. divaricatum, G. praetexta, G. recurva and G. forbesii indicated orthodox behavior, with high viability rates after 12 months of storage, being recommended the storage temperature of -80°C for the first three species and -20°C for G. forbesii. The protocol developed in the present study was efficient for seed bank storage, in vitro germination and seedling production of G. divaricatum and G. praetexta, contributing to conservation strategies of these species.