Trans men and paternal pregnancy: experiences during the pregnancy-puerperal period. / Homem trans e gestação paterna: experiências durante o período gravídico-puerperal.

This study aims to analyze the experiences of a transgender man during the gestational-puerperal period and the perspective of obstetric nurses in training based on the dynamics and organization of obstetric healthcare in a hospital setting. This qualitative study is based on a case study approach, employing interviews and direct observations to collect data. The analysis was based on the theoretical and normative framework of the Nursing Process, the Theory of Caring, and the theoretical/critical perspective of transfeminism. The results are organized into six categories: Transgender man in the context of pregnancy, childbirth, and postpartum; partnership and parental dimensions; dilemmas faced by the pregnant couple; impressions recorded by the nursing professional; understanding of the case through a theoretical and epistemological lens; implications for healthcare professionals. We underscore the need to promote spaces for continuing education among healthcare professionals and to reformulate legislation in a way that enables the development of public policies based on respect for diversity and equitable care, recognizing the transgender population's specificities in the contexts of pregnancy, childbirth, and postpartum.

Este estudo objetiva analisar as experiências de um homem trans durante o período gravídico-puerperal e a perspectiva de enfermeiras obstetras em formação, a partir das dinâmicas e da organização dos cuidados de saúde obstétricos em ambiente hospitalar. Trata-se de um estudo de abordagem qualitativa, baseado em estudo de caso, em que utilizou entrevistas e observações diretas para a coleta das informações. A análise foi feita a partir do marco teórico e normativo do Processo de Enfermagem, da Teoria dos Cuidados e da perspectiva teórico/crítica do transfeminismo. Os resultados estão organizados em seis categorias: Homem trans em contexto de gestação, parto e puerpério; parceria e dimensões parentais; dilemas enfrentados pelo casal grávido; impressões registradas pela profissional de enfermagem; compreensão do caso sob a lente teórica e epistemológica; implicações para os profissionais da saúde. Destaca-se a necessidade de promover espaços de educação permanente junto aos profissionais da saúde e reformular legislações de maneira a viabilizar a elaboração de políticas públicas baseada no respeito à diversidade e cuidado equânime, reconhecendo as especificidades da população trans nos contextos da gestação, parto e puerpério.

Continuing nursing education actions in the face of homophobia: an integrative review.

OBJECTIVES: to analyze continuing nursing education actions in the scientific literature in the face of homophobia. METHODS: an integrative literature review with structured search in June 2022 in eight databases, using the descriptors Nursing Education, Homophobia, Sexual and Gender Minorities. Final sample consisted of six primary studies. RESULTS: continuing nursing education actions are supported by strategies such as use of teaching materials, lectures, case studies and focus groups, addressing content such as gender identity issues and affective-sexual orientation, health disparities and their relationship with homophobia in healthcare settings. FINAL CONSIDERATIONS: carried out in various healthcare settings, continuing education actions proved to be successful in raising nurses' awareness in facing homophobia in health services, however, their expansion is necessary to create health spaces that meet the specific needs of these people.

Genome-Enabled Analysis of Population Dynamics and Virulence-Associated Loci in the Oat Crown Rust Fungus Puccinia coronata f. sp. avenae.

Puccinia coronata f. sp. avenae (Pca) is an important fungal pathogen causing crown rust that impacts oat production worldwide. Genetic resistance for crop protection against Pca is often overcome by the rapid virulence evolution of the pathogen. This study investigated the factors shaping adaptive evolution of Pca using pathogen populations from distinct geographic regions within the United States and South Africa. Phenotypic and genome-wide sequencing data of these diverse Pca collections, including 217 isolates, uncovered phylogenetic relationships and established distinct genetic composition between populations from northern and southern regions from the United States and South Africa. The population dynamics of Pca involve a bidirectional movement of inoculum between northern and southern regions of the United States and contributions from clonality and sexuality. The population from South Africa is solely clonal. A genome-wide association study (GWAS) employing a haplotype-resolved Pca reference genome was used to define 11 virulence-associated loci corresponding to 25 oat differential lines. These regions were screened to determine candidate Avr effector genes. Overall, the GWAS results allowed us to identify the underlying genetic factors controlling pathogen recognition in an oat differential set used in the United States to assign pathogen races (pathotypes). Key GWAS findings support complex genetic interactions in several oat lines, suggesting allelism among resistance genes or redundancy of genes included in the differential set, multiple resistance genes recognizing genetically linked Avr effector genes, or potentially epistatic relationships. A careful evaluation of the composition of the oat differential set accompanied by the development or implementation of molecular markers is recommended. [Formula: see text] Copyright © 2024 The Author(s). This is an open access article distributed under the CC BY-NC-ND 4.0 International license.

Effects of long-acting injectable progesterone supplementation at early dioestrus on pregnancy maintenance in beef and dairy recipient cattle.

We tested in the present study the hypothesis that supplementation with long-acting P4 (iP4) at different times of the initial dioestrus improves pregnancy rates in dairy and beef recipients submitted to fixed-time embryo transfer (FTET). Recipients from commercial farms had their oestrous cycle synchronized with an E2/P4-based protocol in three experiments (Exp. 1 to 3). In Exp. 1, dairy heifers (n = 76) and cows (n = 104) were randomly assigned to two experimental groups: the control group (n = 89) and the iP4D4 group (n = 91). For Exps. 2 and 3, suckled beef recipients were used. In Exp. 2, recipients were assigned to two experimental groups: Control group (n = 147) and iP4D7 group (n = 144); whereas in Exp. 3, recipients were randomly assigned to three experimental groups: Control group (n = 85), iP4-D4 group (n = 86) and iP4D7 group (n = 81). Recipients in the iP4D4 and iP4-D7 groups received an i.m. administration of 150 mg iP4, on D4 or D7 (D0 was the day of expected oestrus). On D7, all recipients were evaluated by transrectal ultrasonography and those that had a CL received a fresh or vitrified in vitro-produced embryo. In Exp. 2 and 3, the CL area was also determined by ultrasonography at the time of FTET. The pregnancy diagnosis was performed at 30 days in Exp. 1, 57 days in Exp. 2, and between 40 and 72 days of pregnancy in Exp. 3. In Exp. 1, the pregnancy rate did not differ (p > .1) between the Control group (38.2% [34/89]) and iP4D4 group (49.5% [45/91]); yet, a parity effect indicated a greater (p < .05) pregnancy rate in heifers (57.9% [44/76]) than cows (30.8% [32/104]). In Exp. 2, the pregnancy rate was greater (p < .05) in the iP4D7 group (45.0% [65/144]) than in the Control group (34.0% [50/147]). Also, a greater (p = .08) pregnancy rate was observed for recipients with a small CL (≤2.75 cm2 ) that were treated with iP4 on the day of FTET than the control recipients (46.4% [32/69] vs. 32.6% [28/86]). In Exp. 3, no significant effects (p > .1) of the treatment group or CL size were detected on pregnancy rates at days 30 and 60. In conclusion, the beneficial effects of iP4 supplementation at early dioestrus on pregnancy maintenance may vary according to the experimental conditions, but its use at the time of FTET can be used as an alternative to enhance the fertility of beef recipients in challenging conditions in commercial herds.

Continuing nursing education actions in the face of homophobia: an integrative review / Acciones de educación permanente en enfermería frente a la homofobia: una revisión integradora / Ações de educação permanente da enfermagem frente à homofobia: uma revisão integrativa

ABSTRACT Objectives: to analyze continuing nursing education actions in the scientific literature in the face of homophobia. Methods: an integrative literature review with structured search in June 2022 in eight databases, using the descriptors Nursing Education, Homophobia, Sexual and Gender Minorities. Final sample consisted of six primary studies. Results: continuing nursing education actions are supported by strategies such as use of teaching materials, lectures, case studies and focus groups, addressing content such as gender identity issues and affective-sexual orientation, health disparities and their relationship with homophobia in healthcare settings. Final considerations: carried out in various healthcare settings, continuing education actions proved to be successful in raising nurses' awareness in facing homophobia in health services, however, their expansion is necessary to create health spaces that meet the specific needs of these people.

RESUMEN Objetivos: analizar las acciones de educación continua en enfermería en la literatura científica frente a la homofobia. Métodos: revisión integrativa de la literatura con búsqueda estructurada en junio de 2022 en ocho bases de datos, utilizando los descriptores Nursing Education, Homophobia, Sexual and Gender Minorities. La muestra final estuvo compuesta por seis estudios primarios. Resultados: las acciones de educación continua en enfermería se apoyan en estrategias como el uso de materiales didácticos, conferencias, estudios de casos y grupos focales, abordando contenidos como cuestiones de identidad de género y orientación afectivo-sexual, disparidades en salud y su relación con la homofobia en el ámbito de la salud. Consideraciones finales: realizadas en diversos ámbitos de atención de salud, las acciones de educación continua demostraron ser exitosas en la sensibilización de los enfermeros para enfrentar la homofobia en los servicios de salud, sin embargo, su ampliación es necesaria para crear espacios de salud que atiendan las necesidades específicas de estas personas.

RESUMO Objetivos: analisar na literatura científica ações de educação permanente da enfermagem frente à homofobia. Métodos: revisão integrativa da literatura com busca estruturada em junho de 2022 em oito bases de dados, utilizando os descritores Nursing Education, Homophobia, Sexual and Gender Minorities. Amostra final foi composta por seis estudos primários. Resultados: as ações de educação permanente da enfermagem apoiam-se em estratégias como utilização de materiais didáticos, palestras, estudos de casos e grupos focais, com abordagem de conteúdos como questões identitárias de gênero e de orientação afetivossexual, disparidades de saúde e sua relação com a homofobia nos locais de cuidados de saúde. Considerações finais: realizadas em variados cenários de cuidados de saúde, as ações de educação permanente mostraram-se exitosas quanto à sensibilização dos enfermeiros no enfrentamento da homofobia nos serviços de saúde, sendo necessária, no entanto, sua ampliação para a criação de espaços de saúde que atendam às necessidades específicas dessas pessoas.

Classifying Chewing and Rumination in Dairy Cows Using Sound Signals and Machine Learning.

This research paper introduces a novel methodology for classifying jaw movements in dairy cattle into four distinct categories: bites, exclusive chews, chew-bite combinations, and exclusive sorting, under conditions of tall and short particle sizes in wheat straw and Alfalfa hay feeding. Sound signals were recorded and transformed into images using a short-time Fourier transform. A total of 31 texture features were extracted using the gray level co-occurrence matrix, spatial gray level dependence method, gray level run length method, and gray level difference method. Genetic Algorithm (GA) was applied to the data to select the most important features. Six distinct classifiers were employed to classify the jaw movements. The total precision found was 91.62%, 94.48%, 95.9%, 92.8%, 94.18%, and 89.62% for Naive Bayes, k-nearest neighbor, support vector machine, decision tree, multi-layer perceptron, and k-means clustering, respectively. The results of this study provide valuable insights into the nutritional behavior and dietary patterns of dairy cattle. The understanding of how cows consume different types of feed and the identification of any potential health issues or deficiencies in their diets are enhanced by the accurate classification of jaw movements. This information can be used to improve feeding practices, reduce waste, and ensure the well-being and productivity of the cows. The methodology introduced in this study can serve as a valuable tool for livestock managers to evaluate the nutrition of their dairy cattle and make informed decisions about their feeding practices.

Assessment of Preference Behavior of Layer Hens under Different Light Colors and Temperature Environments in Long-Time Footage Using a Computer Vision System.

As for all birds, the behavior of chickens is largely determined by environmental conditions. In many production systems, light intensity is low and red feather strains have low contrast with the background, making it impossible to use conventional image segmentation techniques. On the other hand, studies of chicken behavior, even when using video camera resources, depend on human vision to extract the information of interest; and in this case, reduced samples are observed, due to the high cost of time and energy. Our work combined the use of advanced object detection techniques using YOLO v4 architecture to locate chickens in low-quality videos, and we automatically extracted information on the location of birds in more than 648 h of footage. We develop an automated system that allows the chickens to transition among three environments with different illuminations equipped with video cameras to monitor the presence of birds in each compartment, and we automatically count the number of birds in each compartment and determine their preference. Our chicken detection algorithm shows a mean average precision of 99.9%, and a manual inspection of the results showed an accuracy of 98.8%. Behavioral analysis results based on bird unrest index and permanence time indicate that chickens tend to prefer white light and disfavor green light, except in the presence of heat stress when no clear preference can be observed. This study demonstrates the potential of using computer vision techniques with low-resolution, low-cost cameras to monitor chickens in low-light conditions.

Altered structural connectivity in olfactory disfunction after mild COVID-19 using probabilistic tractography.

We aimed to investigate changes in olfactory bulb volume and brain network in the white matter (WM) in patients with persistent olfactory disfunction (OD) following COVID-19. A cross-sectional study evaluated 38 participants with OD after mild COVID-19 and 24 controls, including Sniffin' Sticks identification test (SS-16), MoCA, and brain magnetic resonance imaging. Network-Based Statistics (NBS) and graph theoretical analysis were used to explore the WM. The COVID-19 group had reduced olfactory bulb volume compared to controls. In NBS, COVID-19 patients showed increased structural connectivity in a subnetwork comprising parietal brain regions. Regarding global network topological properties, patients exhibited lower global and local efficiency and higher assortativity than controls. Concerning local network topological properties, patients had reduced local efficiency (left lateral orbital gyrus and pallidum), increased clustering (left lateral orbital gyrus), increased nodal strength (right anterior orbital gyrus), and reduced nodal strength (left amygdala). SS-16 test score was negatively correlated with clustering of whole-brain WM in the COVID-19 group. Thus, patients with OD after COVID-19 had relevant WM network dysfunction with increased connectivity in the parietal sensory cortex. Reduced integration and increased segregation are observed within olfactory-related brain areas might be due to compensatory plasticity mechanisms devoted to recovering olfactory function.

Distorted thoughts as a mediator of depressive symptoms in patients with major depressive disorder: a longitudinal study.

BACKGROUND: Distorted thoughts are common in Major Depressive Disorder (MDD), and can impact patients' perceptions of depression severity, and predict chronicity and treatment response. This study aimed to investigate whether distorted thoughts mediate depressive symptoms in MDD over a 6-month period. METHOD: These are secondary results from a study that followed 119 patients diagnosed with moderate to severe MDD for 6 months. Diagnoses were confirmed by the Structured Interview for DSM-IV (SCID-CV). The analysis was composed of results from the Hamilton Depression Rating Scale (HAMD-17), the Montgomery-Asberg Depression Rating Scale (MADRS), the second edition of the Beck Depression Inventory (BDI-II), and the Depression Thoughts Scale (DTS) collected at weeks 1, 8, 12 and 24. RESULTS: Results showed that the DTS mediated the relationship between depressive symptoms experienced approximately 3 months after starting antidepressant treatment. CONCLUSION: Cognitive distortions were linked as a mediator to depressive symptoms, highlighting the importance of early psychological interventions in patients with MDD who exhibit these distortions. TRIAL REGISTRATION: NCT02268487.

Pilot study of newborn screening for six lysosomal diseases in Brazil.

BACKGROUND: Lysosomal diseases (LDs) are progressive life-threatening disorders that are usually asymptomatic at birth. Specific treatments are available for several LDs, and early intervention improves patient's outcomes. Thus, these diseases benefit from newborn screening (NBS). We have performed a pilot study for six LDs in Brazil by tandem mass spectrometry. METHODS: Dried blood spot (DBS) samples of unselected newborns were analyzed by the Neo-LSD™ kit (Perkin-Elmer) by MS/MS. Samples with low enzyme activity were submitted to the evaluation of specific biomarkers by ultra-performance liquid chromatography tandem-mass spectrometry as the second-tier, and were analyzed by a next-generation sequencing (NGS) multi-gene panel as the third-tier. All tests were performed in the same DBS sample. RESULTS: In 20,066 newborns analyzed, 15 samples showed activity of one enzyme below the cutoff. Two newborns had biochemical and molecular results compatible with Fabry disease, and five newborns had biochemical results and pathogenic variants or variants of unknown significance (VUS) in GAA. CONCLUSIONS: This study indicates that the use of enzyme assay as the first-tier test gives an acceptably low number of positive results that requires second/third tier testing. The possibility to run all tests in a DBS sample makes this protocol applicable to large-scale NBS programs.

Corrigendum to " Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry" [32/100888 (2022) page 1-4].

[This corrects the article DOI: 10.1016/j.ymgmr.2022.100888.].

Parkinson's Disease-Cognitive Rating Scale (PD-CRS): Normative Data and Mild Cognitive Impairment Assessment in Brazil.

Background: The Parkinson's Disease-Cognitive Rating Scale (PD-CRS) assesses posterior-cortical and frontal-subcortical cognitive functioning and distinguishes mild cognitive impairment in Parkinson's disease (PD-MCI); however, it was not evaluated in Brazil. Objectives: To investigate PD-CRS's reliability, validity, normative data, and accuracy for PD-MCI screening in Brazil. Methods: The effects of age, education, and sex on PD-CRS scores were explored. The instrument was tested in 714 individuals (53% female, 21-94 years), with a broad range of education and no neurodegenerative disorder. Trail Making, Consonant Trigrams, Five-Point, and semantic fluency tests were administered for comparison. A second study enrolled patients with PD and intact cognition (n = 44, 59.75 ± 10.79 years) and with PD-MCI (n = 25, 65.76 ± 10.33 years) to investigate criterion validity. PD-CRS subtests were compared with the Cambridge Automated Neuropsychological Battery memory and executive tasks. Results: PD-CRS was unidimensional and reliable (McDonald's ω = 0.83). Using robust multiple regressions, age, and education predicted the total and derived scores in the normative sample. At the 85-point cutoff, PD-MCI was detected with 68% sensitivity and 86% specificity (area under the curve = 0.870). PD-CRS scores strongly correlated with executive and verbal/visual memory tests in both normative and clinical samples. Conclusions: This study investigated the applicability of PD-CRS in the Brazilian context. The scale seems helpful in screening for PD-MCI, with adequate internal consistency and construct validity. The PD-CRS variance is influenced by age and educational level, a critical issue for cognitive testing in countries with educational and cultural heterogeneity.

Inter-rater reliability of the Rasch-modified medical research council scoring criteria for manual muscle testing in neuromuscular diseases.

It was argued that researchers and clinicians are not able to make judgments between most categories of the original Medical Research Council (MRC) scale and that a modified short version would reach higher agreement levels. We aimed to assess the inter-rater reliability for both the original and the Rasch-modified MRC scoring criteria of Manual Muscle Strength tests (MMSt) in patients with neuromuscular diseases. Two MRC scoring criteria were used to score muscle strength using MMSt in 40 muscle groups of the upper and lower limbs in patients with neuromuscular disorders. Three investigators performed the evaluations; the order of the MMSt and the use of the scales were performed according to the preferences of the investigators. The agreement coefficient (Gwet's AC2 ) was used to compute the reliability. Sixty patients (mean age of 39.3 years ± 15.2) with neuromuscular diseases were included. The mean AC2 for the muscle groups of the upper limbs ranged from 0.82 to 0.96 using the modified MRC scale and from 0.86 to 0.96 using the original MRC scale. The AC2 for the lower limb muscle groups ranged from 0.80 to 0.91 (modified MRC scale) and from 0.87 to 0.93 (original MRC scale). These values might be interpreted as "almost perfect agreement" with no significant differences between the scales. The results indicate that both MRC scoring criteria have significant reliability among trained observers. Moreover, the Rasch-modified MRC scale is as reliable as the original MRC scale and can be used in future clinical studies.

Tecnologias educacionais em saúde para adolescentes e jovens lgbti+: revisão integrativa / Tecnologías educativas en salud para adolescentes y jóvenes lgbti+: revisión integradora / Educational technologies in health for adolescent and young lgbti+: integrative review

RESUMO Objetivo: analisar o desenvolvimento e o uso de tecnologias educacionais em saúde para adolescentes e jovens lésbicas, gays, bissexuais, travestis, transexuais, pessoas intersexo e mais da diversidade sexual e de gênero (LGBTI+). Método: revisão integrativa de literatura, conduzida pela estratégia PICo, com busca nas bases de dados: MEDLINE via PubMed, CINAHL, Embase, Scopus, LILACS e Web of Scienceatualizadaem abril e maio de 2023. Na etapa de seleção, o levantamento bibliográfico foi organizado pelo gerenciador de referências Mendeley® com auxílio do software colaborativo em revisões Rayyan®. Resultados: onze artigos compuseram a amostra final, evidenciando o uso de programas de intervenções virtuais, do vídeo interativo e a utilização de grupos focais e fóruns de discussão virtual como recursos significativos desenvolvidos como intervenções em saúde digital para adolescentes e jovens LGBTI+. Considerações Finais: as tecnologias analisadas têm potencial para lhes alcançar de modo consistente, apoiando seus processos de conhecimento e as tomadas de decisões sobre sua saúde, sendo fontes significativas de informação e aprendizagem, com o acesso virtual representando uma oportunidade-chave no contexto da saúde digital. Recomendam-se fontes digitais de base científica nos cuidados à saúde de adolescentes e jovens LGBTI+.

RESUMEN Objetivo: analizar el desarrollo y uso de tecnologías educativas en salud para adolescentes y jóvenes lesbianas, gays, bisexuales, travestís, transexuales, personas intersexuales y más de la diversidad sexual y de género (LGBTI+). Método: revisión integradora de la literatura, conducida por la estrategia PICo, con búsqueda en las bases de datos: MEDLINE vía PubMed, CINAHL, Embase, Scopus, LILACS y Web ofScience actualizada en abril y mayo de 2023. En la etapa de selección, el estudio bibliográfico fue organizado por el gestor de referencias Mendeley® con ayuda del software colaborativo en revisiones Rayyan®. Resultados: once artículos compusieron la muestra final, evidenciando el uso de programas de intervenciones virtuales, del vídeo interactivo y la utilización de grupos focales y foros de discusión virtual como recursos significativos desarrollados como intervenciones en salud digital para adolescentes y jóvenes LGBTI+. Consideraciones finales: las tecnologías analizadas tienen potencial para alcanzarles de manera consistente, apoyando sus procesos de conocimiento y las decisiones sobre su salud, siendo fuentes significativas de información y aprendizaje, con el acceso virtual representando una oportunidad clave en el contexto de la salud digital. Se recomiendan fuentes digitales de base científica en el cuidado de la salud de adolescentes y jóvenes LGBTI+.

ABSTRACT Objective: to analyze the development and use of educational health technologies for adolescent and young lesbians, gays, bisexuals, transvestites, transsexuals, intersex people and more of sexual and gender diversity (LGBTI+). Method: integrative literature review, conducted by the PICo strategy, with search in the databases: MEDLINE via PubMed, CINAHL, Embase, Scopus, LILACS and Web of Science updated in April and May 2023. In the selection stage, the bibliographic survey was organized by the reference manager Mendeley® with the aid of collaborative software in Rayyan®. Results: eleven articles composed the final sample, evidencing the use of virtual the use of focus groups and virtual discussion forums as significant resources developed as digital health interventions for adolescent and young LGBTI+. Final Thoughts: the technologies analyzed have the potential to reach them consistently, supporting their knowledge processes and decision making about their health, being significant sources of information and learning, with virtual access representing a key opportunity in the context of digital health. Scientific-based digital sources are recommended in the health care of adolescent and young LGBTI+.

Obstáculos no acesso a serviços públicos de saúde por travestis e pessoas transexuais: revisão integrativa / Obstacles in the access to public health services by transvestites and transgender persons: an integrative review

RESUMO Objetivo descrever obstáculos ao acesso dos serviços de saúde da população travestis e de pessoas transexuais. Métodos revisão integrativa, realizada no período de julho a agosto de 2022, efetuada nas bases de dados: LILACS, MEDLINE, Web of Science e SCOPUS. Resultados foram encontrados 472 estudos primários, contudo, ao final do processo de análise, 14 produções foram incluídas ao estudo. Observaram-se obstáculos ao acesso à saúde, como a invisibilidade das especificidades da saúde, a ausência de informação e de preparo dos profissionais, a susceptibilidade, que aparece na etapa juvenil e a resistência no cuidado às infecções sexualmente transmissíveis, destacando a necessidade de investir na produção de políticas que afirmam o direito à saúde para esse segmento da população. Conclusão verificou-se carência de estudos sobre o acesso de travestis e transgêneros à serviços de saúde. Essas dificuldades estão associadas ao conservadorismo, à heteronormatividade, à falta de implementação e de regulamentação de políticas públicas para eles. Contribuições para a prática o presente artigo apresenta informações de acesso à saúde da população travesti e trans, facilitando o olhar das necessidades específicas dessa população.

ABSTRACT Objective to describe obstacles to the access to health services of the transvestite and transgender population. Methods integrative review, conducted from July to August 2022, in the following databases: LILACS, MEDLINE, Web of Science and SCOPUS. Results 472 primary studies were found; however, at the end of the analysis process, 14 productions were included in the study. Obstacles to access to health were observed, such as the invisibility of health specificities, the lack of information and preparation of professionals, the susceptibility, which appears in the juvenile stage, and the resistance to care for sexually transmitted infections, highlighting the need to invest in the production of policies that affirm the right to health for this segment of the population. Conclusion there was a lack of studies on the access of transvestites and transgenders to health services. These difficulties are associated with conservatism, heteronormativity, lack of implementation and regulation of public policies for them. Contributions to practice this article presents information about access to health care for the transvestite and transgender population, facilitating the view of the specific needs of this population.

Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency.

BACKGROUND: Acid sphingomyelinase deficiency (ASMD) is a lysosomal disorder caused by deficiency of acid sphingomyelinase (ASM) leading to the accumulation of sphingomyelin (SM) in a variety of cell types. Lysosphingomyelin (LysoSM) is the de-acetylated form of SM and it has been shown as a biomarker for ASMD in tissues, plasma, and dried blood spots (DBS) and lysosphingomyelin-509 (LysoSM509) is the carboxylated analogue of LysoSM. High levels of Lysosphingomyelin 509 (LysoSM509) have also been shown in ASMD patients. In this study, we report the utility of the quantification of LysoSM and LysoSM509 in DBS of patients from Latin America with ASMD by ultra-performance liquid chromatography tandem mass spectrometry (UPLC-MS/MS). RESULTS: DBS samples from 14 ASMD patients were compared with 15 controls, and 44 general newborns. All patients had their diagnosis confirmed by the quantification of ASM and the measurement of the activity of chitotriosidase. All patients had significantly higher levels of lysoSM and lysoSM509 compared to controls and general newborns. CONCLUSIONS: The quantification of lysosphingolipids in DBS is a valuable tool for the diagnosis of ASMD patients and lysoSM can be useful in the differential diagnosis with NPC. This method is also valuable in the ASMD newborn screening process.

Brain microstructural changes and fatigue after COVID-19.

Background: Fatigue and cognitive complaints are the most frequent persistent symptoms in patients after severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. This study aimed to assess fatigue and neuropsychological performance and investigate changes in the thickness and volume of gray matter (GM) and microstructural abnormalities in the white matter (WM) in a group of patients with mild-to-moderate coronavirus disease 2019 (COVID-19). Methods: We studied 56 COVID-19 patients and 37 matched controls using magnetic resonance imaging (MRI). Cognition was assessed using Montreal Cognitive Assessment and Cambridge Neuropsychological Test Automated Battery, and fatigue was assessed using Chalder Fatigue Scale (CFQ-11). T1-weighted MRI was used to assess GM thickness and volume. Fiber-specific apparent fiber density (FD), free water index, and diffusion tensor imaging data were extracted using diffusion-weighted MRI (d-MRI). d-MRI data were correlated with clinical and cognitive measures using partial correlations and general linear modeling. Results: COVID-19 patients had mild-to-moderate acute illness (95% non-hospitalized). The average period between real-time quantitative reverse transcription polymerase chain reaction-based diagnosis and clinical/MRI assessments was 93.3 (±26.4) days. The COVID-19 group had higher total CFQ-11 scores than the control group (p < 0.001). There were no differences in neuropsychological performance between groups. The COVID-19 group had lower FD in the association, projection, and commissural tracts, but no change in GM. The corona radiata, corticospinal tract, corpus callosum, arcuate fasciculus, cingulate, fornix, inferior fronto-occipital fasciculus, inferior longitudinal fasciculus, superior longitudinal fasciculus, and uncinate fasciculus were involved. CFQ-11 scores, performance in reaction time, and visual memory tests correlated with microstructural changes in patients with COVID-19. Conclusions: Quantitative d-MRI detected changes in the WM microstructure of patients recovering from COVID-19. This study suggests a possible brain substrate underlying the symptoms caused by SARS-CoV-2 during medium- to long-term recovery.

Creatine and creatinine quantification in olympic athletes: dried blood spot analysis pilot study.

Capillary dried blood spot (DBS) samples facilitate field-based collection without venipuncture. This pilot study aims to evaluate the viability of creatine (Cr) and creatinine (Crt) quantification using fresh capillary serum (CrS/CrtS) and DBS samples (CrDBS/CrtDBS), using Flow Injection Analysis Mass Spectrometry (FIA - MS). Nine Olympic Athletes provided a capillary blood sample to assess CrS/CrtS and CrDBS/CrtDBS quantified by FIA - MS. No difference between CrtS (mean ± SD: 813.6 ± 102.4 µmol/L) and CrtDBS (812.4 ± 108.1 µmol/L) was observed with acceptable variance [SEM 88.7; CV 10.7%; ICC 0.57 (CI 95% 0.06 - 0.84)] and agreement [very strong (Spearman: r = 0.77; p < 0.01) or strong (Pearson: r = 0.56; p = 0.04); Bland Altman: lower (-193) and upper (+196) limits of agreement]. CrS (mean ± SD: 691.8 ± 165.2 µmol/L) was significantly different to CrDBS (2911 ± 571.4 µmol/L) with unacceptable variance [SEM 171.6; CV 27%; ICC 0.002 (CI 95% -0.02 - 0.07)] and 'weak' agreement [Spearman: r = 0.21, p = 0.47 and Pearson: r = 0.06, p = 0.84; Bland Altman lower (-3367) and upper (-1072) limits of agreement]. Crt quantification is viable using both CrtS and CrtDBS (but not for Cr and CrS/CrDBS), with the DBS tissue handling technique offering several methodological and practice facing advantages. Future work should expand upon the sample size, explore sport/discipline relevant analytes across a full competitive season, including key training, recovery and performance blocks of their periodized performance plan.

Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C.

Niemann-Pick disease type C (NPC) is a lysosomal disorder caused by impaired cholesterol metabolism. Levels of lysosphingomyelin 509 (LysoSM509) have been shown elevated in dried blood spots (DBS) of NPC and acid sphingomyelinase deficiency patients. In this study, we report our experience using a two-tier approach (1st tier is the quantification of lysoSM509 by ultra-performance liquid chromatography tandem mass spectrometry followed by the 2nd tier with next-generation sequencing of the NPC1 and NPC2 genes). DBS samples from 450 suspected patients were received by the NPC Brazil network. Of these, 33 samples had elevated levels of lysoSM509, and in 25 of them, variants classified as pathogenic, likely pathogenic, or of unknown significance were identified in the NPC1 or NPC2 genes by next-generation sequencing. The quantification of lysoSM509 in DBS as a first-tier test for the diagnosis of NPC followed by molecular analysis of the NPC1 and NPC2 genes almost doubled the detection rate when compared to the performance of chitotriosidase activity as a first-tier biomarker, and it could likely be increased with the addition of a third tier with MLPA of the two genes involved. This strategy seems suitable for the neonatal screening (NBS) of NPC if this disease is eventually adopted by NBS programs.