GHR and IGF2R genes may contribute to normal variations in craniofacial dimensions: Insights from an admixed population.

INTRODUCTION: This study aimed to determine whether single nucleotide polymorphisms in the growth hormone receptor (GHR) and insulin-like growth factor 2 receptor (IGF2R) genes are associated with different craniofacial phenotypes. METHODS: A total of 596 orthodontic and 98 orthognathic patients from 4 cities in Brazil were included for analyses. Angular and linear cephalometric measurements were obtained, and phenotype characterizations were performed. Genomic DNA was collected from buccal cells and single nucleotide polymorphisms in GHR (rs2910875, rs2973015, rs1509460) and IGF2R (rs2277071, rs6909681, rs6920141) were genotyped by polymerase chain reactions using TaqMan assay. Genotype-phenotype associations were assessed in the total sample (statistical significance was set at P <8.333 × 10-3) and by a meta-analytic approach implemented to calculate the single effect size measurement for the different cohorts. RESULTS: Rare homozygotes for the GHR rs2973015 showed increased measurements for the lower anterior facial height (ANS-Me) and mandibular sagittal lengths (Co-Gn and Go-Pg). In contrast, common homozygotes for the IGF2R rs6920141 presented reduced measurements for these dimensions (ANS-Me and Go-Pg). Furthermore, the less common homozygotes for IGF2R rs2277071 had reduced maxillary sagittal length (Ptm'-A'). The meta-analytical approach replicated the associations of rs2973015 with ANS-Me, rs2277071 with Ptm'-A', and rs6920141 with Go-Pg. CONCLUSIONS: Our results provide further evidence that GHR contributes to the determination of mandibular morphology. In addition, we report that IGF2R is a possible gene associated with variations in craniofacial dimensions. Applying meta-analytical approaches to genetic variation data originating from likely underpowered samples may provide additional insight regarding genotype and/or phenotype associations.

Process Operability Analysis of Membrane-Based Direct Air Capture for Low-Purity CO2 Production.

Addressing climate change constitutes one of the major scientific challenges of this century, and it is widely acknowledged that anthropogenic CO2 emissions largely contribute to this issue. To achieve the "net-zero" target and keep the rise in global average temperature below 1.5 °C, negative emission technologies must be developed and deployed at a large scale. This study investigates the feasibility of using membranes as direct air capture (DAC) technology to extract CO2 from atmospheric air to produce low-purity CO2. In this work, a two-stage hollow fiber membrane module process is designed and modeled using the AVEVA Process Simulation platform to produce a low-purity (≈5%) CO2 permeate stream. Such low-purity CO2 streams could have several possible applications such as algae growth, catalytic oxidation, and enhanced oil recovery. An operability analysis is performed by mapping a feasible range of input parameters, which include membrane surface area and membrane performance metrics, to an output set, which consists of CO2 purity, recovery, and net energy consumption. The base case for this simulation study is generated considering a facilitated transport membrane with high CO2/N2 separation performance (CO2 permeance = 2100 GPU and CO2/N2 selectivity = 1100), when tested under DAC conditions. With a constant membrane area, both membranes' intrinsic performances are found to have a considerable impact on the purity, recovery, and energy consumption. The area of the first module plays a dominant role in determining the recovery, purity, and energy demands, and in fact, increasing the area of the second membrane has a negative impact on the overall energy consumption, without improving the overall purities. The CO2 capture capacity of DAC units is important for implementation and scale-up. In this context, the performed analysis showed that the m-DAC process could be appropriate as a small-capacity system (0.1-1 Mt/year of air), with reasonable recoveries and overall purity. Finally, a preliminary CO2 emissions analysis is carried out for the membrane-based DAC process, which leads to the conclusion that the overall energy grid must be powered by renewable sources for the technology to qualify within the negative emissions category.

Transgender people's knowledge about the adverse effects of cross-hormonization: challenges for nursing.

OBJECTIVES: to identify trans women's and men's knowledge about the adverse effects of cross-hormonization and understand the repercussions of hormonization practices on trans women's and men's health. METHODS: exploratory, descriptive, qualitative research, developed with 41 participants, from July 2019 to February 2020, in a trans health outpatient clinic. Thematic-categorical content analysis was used. RESULTS: from the analysis, the categories emerged: Knowledge about the adverse effects of cross-hormonization; and Cross-hormonization practices and their meaning. FINAL CONSIDERATIONS: nursing practices, based on the identification of knowledge about adverse effects and the understanding of cross-hormonization practices in trans women's and men's health, can result in more inclusive care.

Masculinities under construction, bodies under (re)construction: trans men's desires, contradictions, and ambiguities in the transexualizing process. / Masculinidades em construção, corpos em (re)construção: desejos, contradições e ambiguidades de homens trans no processo transexualizador.

This paper presents the research results on the strategies, expectations, and desires of 28 transsexual men in building their masculinities and reconstructing their bodies through cross-hormonization. The qualitative research was carried out in an outpatient clinic of the transsexualization process in a city in the metropolitan region of Rio de Janeiro. We employed semi-structured interviews and participant observation from November 2019 to January 2020 to collect data. Content analysis guided the analysis of the statements from which the discussed categories emerged. The categories were discussed in the light of the concepts of gender, transsexuality, and masculinity, besides references from studies on ethnicity/skin color in their articulations with health. The data revealed desires, contradictions, and ambiguities regarding the construction of masculinity and the (re)construction of bodies more suited to it. They also evidenced the desire for the male bodily standard achieved through hormonization and surgeries, and black skin color emerged as a critical inequality mark. We concluded that, while refuting many male model features, these men want to enter this world and blend in with the crowd as men, thus experiencing fuller masculinity.

O artigo traz os resultados de uma pesquisa sobre as estratégias, expectativas e desejos de 28 homens transexuais na construção das suas masculinidades e reconstrução de seus corpos por meio da hormonização cruzada. A pesquisa qualitativa foi realizada em um ambulatório do processo transexualizador de um município da região metropolitana do Rio de Janeiro. Para a construção dos dados, foram utilizadas a entrevista semiestruturada e a observação participante, empreendidas entre os meses de novembro de 2019 e janeiro de 2020. A análise de conteúdo orientou a análise das falas, das quais emergiram as categorias que foram discutidas à luz dos conceitos de gênero, transexualidade e masculinidades, além de referências de estudos sobre raça/cor em suas articulações com a saúde. Os dados revelaram desejos, contradições e ambiguidades no que diz respeito à construção da masculinidade e à (re)construção de corpos mais adequados a ela; evidenciaram o desejo pelo padrão corporal de masculinidade que seria conquistado por meio da hormonização e de cirurgias, e a cor negra surgiu como uma importante marca de desigualdade. Concluímos que, mesmo refutando muitos traços do modelo de masculinidade, esses homens desejam adentrar esse mundo e confundir-se na multidão como homens, vivenciando a masculinidade mais plena.

Transgender people's knowledge about the adverse effects of cross-hormonization: challenges for nursing / Conocimiento de personas transgénero sobre los efectos adversos de la hormonización cruzada: desafíos para la enfermería / Conhecimento de pessoas transgênero sobre os efeitos adversos da hormonização cruzada: desafios para a enfermagem

ABSTRACT Objectives: to identify trans women's and men's knowledge about the adverse effects of cross-hormonization and understand the repercussions of hormonization practices on trans women's and men's health. Methods: exploratory, descriptive, qualitative research, developed with 41 participants, from July 2019 to February 2020, in a trans health outpatient clinic. Thematic-categorical content analysis was used. Results: from the analysis, the categories emerged: Knowledge about the adverse effects of cross-hormonization; and Cross-hormonization practices and their meaning. Final Considerations: nursing practices, based on the identification of knowledge about adverse effects and the understanding of cross-hormonization practices in trans women's and men's health, can result in more inclusive care.

RESUMEN Objetivos: identificar los conocimientos de mujeres y hombres trans sobre los efectos adversos de la hormonización cruzada y comprender las repercusiones de las prácticas de hormonalización en la salud de mujeres y hombres trans. Métodos: investigación exploratoria, descriptiva, cualitativa, desarrollada con 41 participantes, de julio de 2019 a febrero de 2020, en un ambulatorio de salud trans. Se utilizó análisis de contenido temático-categórico. Resultados: del análisis surgieron las categorías: Conocimiento sobre los efectos adversos de la hormonización cruzada; y Prácticas de hormonización cruzada y su significado. Consideraciones Finales: las prácticas de enfermería, basadas en la identificación de conocimientos sobre efectos adversos y la comprensión de prácticas de hormonización cruzada en la salud de mujeres y hombres trans, pueden resultar en cuidados más inclusivos.

RESUMO Objetivos: identificar o conhecimento de mulheres e homens trans sobre os efeitos adversos da hormonização cruzada e compreender as repercussões das práticas da hormonização na saúde de mulheres e homens trans. Métodos: pesquisa exploratória, descritiva, qualitativa, desenvolvida com 41 participantes, no período de julho de 2019 a fevereiro de 2020, em um ambulatório de saúde trans. Utilizou-se a análise de conteúdo temático-categorial. Resultados: a partir da análise, emergiram as categorias: Conhecimento sobre os efeitos adversos da hormonização cruzada; e Práticas da hormonização cruzada e seu significado. Considerações Finais: as práticas de enfermagem, a partir da identificação do conhecimento sobre os efeitos adversos e da compreensão das práticas da hormonização cruzada na saúde das mulheres e dos homens trans, podem se concretizar no cuidado mais inclusivo.

Tooth agenesis-related GLI2 and GLI3 genes may contribute to craniofacial skeletal morphology in humans.

OBJECTIVE: The present cross-sectional, multi-centre, genetic study aimed to determine, whether single nucleotide polymorphisms (SNPs) in tooth agenesis (TA)-associated GLI2 and GLI3 genes contribute to the development of craniofacial skeletal morphology in humans. DESIGN: Orthodontic patients from an ethnically heterogeneous population were selected for the present study (n = 594). The presence or absence of TA was determined by analysis of panoramic radiography and dental records. The subjects were classified according to their skeletal malocclusion and facial growth pattern by means of digital cephalometric analysis. Genomic DNA was extracted from squamous epithelial cells of the buccal mucosa and SNPs in GLI2 (rs3738880, rs2278741) and GLI3 (rs929387, rs846266) were analysed by polymerase chain reaction using TaqMan chemistry and end-point analysis. RESULTS: Class II skeletal malocclusion presented a significantly lower frequency of TA (P < 0.05). Subjects without TA showed significantly higher ANB angles (P < 0.05). Genotype and/or allele distributions of the SNPs in GLI2 (rs3738880, rs2278741) and GLI3 (rs846266) were associated with the presence of TA (P < 0.05). The SNPs rs3738880, rs2278741 and rs929387 were also associated with some type of skeletal malocclusion (P < 0.05), but not with the facial growth pattern (P > 0.05). The G allele for TA-related GLI2 rs3738880 was strongly linked to the presence of Class III skeletal malocclusion (OR = 2.03; 95% CI = 1.37-3.03; P<3125 × 10-6). GLI2 rs2278741 C allele was overrepresented in individuals without TA, suggesting it as a protective factor for this dental phenotype (OR = 0.43; 95% CI = 0.24-0.78; P<625 × 10-5). CONCLUSION: The present study suggests that SNPs in TA-associated GLI2 and GLI3 genes may also play a role in the development of skeletal malocclusions. rs3738880 and rs2278741 in GLI2 seems to contribute to the genetic background for skeletal Class III and TA, respectively. TA could be an additional predictor of craniofacial morphology in some cases. Further research replicating the reported associations should be performed.

Genetic variants in ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns.

OBJECTIVE: This study aimed to evaluate the association of genetic variants inACTN3 and MYO1H with craniofacial skeletal patterns in Brazilians. DESIGN: This cross-sectional study enrolled orthodontic and orthognathic patients selected from 4 regions of Brazil. Lateral cephalograms were used and digital cephalometric tracings and analyzes were performed for craniofacial phenotype determination. Participants were classified according to the skeletal malocclusion in Class I, II or III; and according to the facial type in Mesofacial, Dolichofacial or Brachyfacial. Genomic DNA was extracted from saliva samples containing exfoliated buccal epithelial cells and analyzed for genetic variants inACTN3 (rs678397 and rs1815739) and MYO1H (rs10850110) by real-time PCR. Chi-square or Fisher's exact tests were used for statistical analysis (α = 5%). RESULTS: A total of 646 patients were included in the present study. There was statistically significant association of the genotypes and/or alleles distributions with the skeletal malocclusion (sagittal skeletal pattern) and facial type (vertical pattern) for the variants assessed inACTN3 (P < 0.05). For the genetic variant evaluated in MYO1H, there was statistically significant difference between the genotypes frequencies for skeletal Class I and Class II (P < 0.05). The reported associations were different depending on the region evaluated. CONCLUSION: ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns in Brazilian populations.

Masculinidades em construção, corpos em (re)construção: desejos, contradições e ambiguidades de homens trans no processo transexualizador / Masculinities under construction, bodies under (re)construction: trans men's desires, contradictions, and ambiguities in the transexualizing process

Resumo O artigo traz os resultados de uma pesquisa sobre as estratégias, expectativas e desejos de 28 homens transexuais na construção das suas masculinidades e reconstrução de seus corpos por meio da hormonização cruzada. A pesquisa qualitativa foi realizada em um ambulatório do processo transexualizador de um município da região metropolitana do Rio de Janeiro. Para a construção dos dados, foram utilizadas a entrevista semiestruturada e a observação participante, empreendidas entre os meses de novembro de 2019 e janeiro de 2020. A análise de conteúdo orientou a análise das falas, das quais emergiram as categorias que foram discutidas à luz dos conceitos de gênero, transexualidade e masculinidades, além de referências de estudos sobre raça/cor em suas articulações com a saúde. Os dados revelaram desejos, contradições e ambiguidades no que diz respeito à construção da masculinidade e à (re)construção de corpos mais adequados a ela; evidenciaram o desejo pelo padrão corporal de masculinidade que seria conquistado por meio da hormonização e de cirurgias, e a cor negra surgiu como uma importante marca de desigualdade. Concluímos que, mesmo refutando muitos traços do modelo de masculinidade, esses homens desejam adentrar esse mundo e confundir-se na multidão como homens, vivenciando a masculinidade mais plena.

Abstract This paper presents the research results on the strategies, expectations, and desires of 28 transsexual men in building their masculinities and reconstructing their bodies through cross-hormonization. The qualitative research was carried out in an outpatient clinic of the transsexualization process in a city in the metropolitan region of Rio de Janeiro. We employed semi-structured interviews and participant observation from November 2019 to January 2020 to collect data. Content analysis guided the analysis of the statements from which the discussed categories emerged. The categories were discussed in the light of the concepts of gender, transsexuality, and masculinity, besides references from studies on ethnicity/skin color in their articulations with health. The data revealed desires, contradictions, and ambiguities regarding the construction of masculinity and the (re)construction of bodies more suited to it. They also evidenced the desire for the male bodily standard achieved through hormonization and surgeries, and black skin color emerged as a critical inequality mark. We concluded that, while refuting many male model features, these men want to enter this world and blend in with the crowd as men, thus experiencing fuller masculinity.