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1.
Sci Rep ; 14(1): 15059, 2024 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-38956288

RESUMO

Although validated and reliable psychophysical tests of olfactory function are available, an easy-to-use and feasible test has yet to be developed. This study aimed to design a digital odour identification test, evaluate its validity, assess its reliability, establish a normative curve, and explore the impact of demographic factors. The odour identification test was presented with the Multiscent-20, a hand-held, tablet-like digital scent device that features an integrated odour digital delivery system. The identification performance on the 20 odours was assessed using item response theory (IRT). The normative curve was established by administering the test to a large sample of participants (n = 1299). The mean identification score was 17.5 (SD = 2.1). The two-parameter logistic IRT model provided the best fit, revealing variation in item discrimination and difficulty parameters. Educational attainment influenced performance, with primary education associated with lower scores. Additionally, sex was not found to be associated with performance. This study provides initial evidence supporting the validity and reliability of use of the Multiscent-20 as a digital odour identification test. The test's automation and portability enable the standardized delivery of olfactory stimuli and efficient automatic recording and scoring of responses.


Assuntos
Odorantes , Olfato , Humanos , Masculino , Feminino , Odorantes/análise , Adulto , Pessoa de Meia-Idade , Olfato/fisiologia , Adulto Jovem , Adolescente , Reprodutibilidade dos Testes , Idoso
2.
Cien Saude Colet ; 29(4): e16172023, 2024 Apr.
Artigo em Português, Inglês | MEDLINE | ID: mdl-38655954

RESUMO

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.


Assuntos
Período Pós-Parto , Pessoas Transgênero , Adulto , Humanos , Masculino , Gravidez , Atitude do Pessoal de Saúde , Pai/psicologia , Entrevistas como Assunto , Enfermagem Obstétrica , Parto , Pesquisa Qualitativa
3.
Rev Bras Enferm ; 77Suppl 3(Suppl 3): e20230094, 2024.
Artigo em Inglês, Português | MEDLINE | ID: mdl-38477814

RESUMO

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.


Assuntos
Educação Continuada em Enfermagem , Homofobia , Feminino , Humanos , Masculino , Identidade de Gênero , Bases de Dados Factuais , Grupos Focais
4.
Mol Plant Microbe Interact ; 37(3): 290-303, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37955552

RESUMO

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.


Assuntos
Basidiomycota , Resistência à Doença , Puccinia , Resistência à Doença/genética , Avena/genética , Avena/microbiologia , Virulência/genética , Estudo de Associação Genômica Ampla , Filogenia , Doenças das Plantas/microbiologia , Basidiomycota/genética , Dinâmica Populacional
5.
Reprod Domest Anim ; 59(1): e14509, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38037714

RESUMO

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.


Assuntos
Inseminação Artificial , Progesterona , Gravidez , Bovinos , Animais , Feminino , Progesterona/farmacologia , Inseminação Artificial/veterinária , Taxa de Gravidez , Manutenção da Gravidez , Suplementos Nutricionais , Sincronização do Estro/métodos
6.
Rev. bras. enferm ; 77(supl.3): e20230094, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS, BDENF | ID: biblio-1535579

RESUMO

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.

7.
Texto & contexto enferm ; 33: e20230170, 2024. tab, graf
Artigo em Inglês | LILACS-Express | LILACS, BDENF | ID: biblio-1560565

RESUMO

ABSTRACT Objective: to describe the process of developing, validating and assessing an educational booklet to prevent transphobic bullying at school. Method: this is a methodological study, carried out from February to December 2022 at a public school in João Pessoa, Paraíba, Brazil. The educational booklet was developed in accordance with the methodological trajectory proposed by Echer, and submitted to content validity and semantic assessment by expert judges and Elementary School II teachers, respectively. In data analysis, content validity and Intraclass Correlation Coefficients were used, in addition to semantic agreement index. Results: the educational booklet had its content validated with a validity coefficient of 0.981 and an Intraclass Correlation Coefficient of 0.833 for the set of items in the assessment instrument. In semantic assessment, teachers considered the booklet understandable, with a minimum agreement level of 94%. Conclusion: the booklet developed was considered valid by judges, to be used with teachers, individually and in continuing education or health actions, in order to contribute to preventing transphobic bullying at school.


RESUMEN Objetivo: describir el proceso de desarrollo, validación y evaluación de una cartilla educativa para prevenir el acoso escolar transfóbico. Método: se trata de un estudio metodológico, realizado de febrero a diciembre de 2022 en una escuela pública de João Pessoa, Paraíba, Brazil. La cartilla educativa fue elaborada de acuerdo con la trayectoria metodológica propuesta por Echer, y sometida a validación de contenido y evaluación semántica por jueces expertos y docentes de la Escuela Primaria II, respectivamente. En el análisis de los datos, se utilizaron los coeficientes de validez de contenido y de correlación intraclase, y el índice de concordancia semántica. Resultados: la cartilla educativa tuvo su contenido validado con un coeficiente de validez de 0,981 y un coeficiente de correlación intraclase de 0,833 para el conjunto de ítems del instrumento de evaluación. En la evaluación semántica, los docentes consideraron comprensible el cuadernillo, con un nivel mínimo de acuerdo del 94%. Conclusión: la cartilla desarrollada fue considerada válida por los jueces, para ser utilizada con docentes, de manera individual y en acciones de educación continua o de salud, con el fin de contribuir a la prevención del acoso escolar transfóbico en la escuela.


RESUMO Objetivo: Descrever o processo de desenvolvimento, validação e avaliação de cartilha educacional para prevenção do bullying transfóbico na escola. Método: Trata-se de um estudo metodológico, realizado no período de fevereiro a dezembro de 2022 em uma escola pública de João Pessoa, Paraíba, Brasil. A cartilha educacional foi desenvolvida de acordo com a trajetória metodológica proposta por Echer, e submetida à validação de conteúdo e avaliação semântica por juízes especialistas e professores do Ensino Fundamental II, respectivamente. Na análise dos dados, utilizaram-se os coeficientes de validade de conteúdo e correlação intraclasse, e o índice de concordância semântica. Resultados: A cartilha educacional teve seu conteúdo validado com coeficiente de validade de 0,981 e coeficiente de correlação intraclasse de 0,833 para o conjunto de itens do instrumento de avaliação. Na avaliação semântica, os professores consideraram a cartilha compreensível, com nível de concordância mínima de 94%. Conclusão: A cartilha desenvolvida foi considerada válida por juízes, para ser utilizada com professores, de forma individual e em ações de educação permanente ou em saúde, a fim de contribuir na prevenção do bullying transfóbico na escola.

8.
Ciênc. Saúde Colet. (Impr.) ; 29(4): e16172023, 2024. tab
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1557475

RESUMO

Resumo 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.


Abstract 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.

10.
Animals (Basel) ; 13(18)2023 Sep 10.
Artigo em Inglês | MEDLINE | ID: mdl-37760274

RESUMO

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.

11.
Animals (Basel) ; 13(15)2023 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-37570237

RESUMO

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.

12.
Sci Rep ; 13(1): 12886, 2023 08 09.
Artigo em Inglês | MEDLINE | ID: mdl-37558765

RESUMO

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.


Assuntos
COVID-19 , Substância Branca , Humanos , Imagem de Tensor de Difusão/métodos , Estudos Transversais , COVID-19/patologia , Encéfalo/patologia , Substância Branca/diagnóstico por imagem , Substância Branca/patologia , Imageamento por Ressonância Magnética
13.
Health Qual Life Outcomes ; 21(1): 88, 2023 Aug 14.
Artigo em Inglês | MEDLINE | ID: mdl-37580739

RESUMO

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.


Assuntos
Transtorno Depressivo Maior , Humanos , Antidepressivos/uso terapêutico , Depressão , Transtorno Depressivo Maior/diagnóstico , Estudos Longitudinais , Escalas de Graduação Psiquiátrica , Qualidade de Vida
14.
Mol Genet Metab ; 140(1-2): 107654, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37507255

RESUMO

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.


Assuntos
Doença de Fabry , Triagem Neonatal , Humanos , Recém-Nascido , Triagem Neonatal/métodos , Projetos Piloto , Espectrometria de Massas em Tandem/métodos , Brasil/epidemiologia , Doença de Fabry/diagnóstico
16.
Mov Disord Clin Pract ; 10(3): 452-465, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36949793

RESUMO

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.

17.
J Peripher Nerv Syst ; 28(1): 119-124, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36721348

RESUMO

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.


Assuntos
Pesquisa Biomédica , Doenças Neuromusculares , Humanos , Adulto , Reprodutibilidade dos Testes , Músculo Esquelético , Força Muscular/fisiologia , Doenças Neuromusculares/diagnóstico
18.
Rev Rene (Online) ; 24: e81811, 2023. graf
Artigo em Português | LILACS-Express | LILACS, BDENF | ID: biblio-1422538

RESUMO

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.

19.
Ciênc. cuid. saúde ; 22: e66711, 2023. graf
Artigo em Português | LILACS-Express | LILACS, BDENF | ID: biblio-1447937

RESUMO

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+.

20.
Orphanet J Rare Dis ; 17(1): 407, 2022 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-36348386

RESUMO

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.


Assuntos
Doença de Niemann-Pick Tipo A , Doenças de Niemann-Pick , Recém-Nascido , Humanos , Cromatografia Líquida/métodos , Espectrometria de Massas em Tandem/métodos , Esfingomielina Fosfodiesterase
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