RESUMO Objetivo: Avaliar a funcionalidade e fatores associados em crianças e adolescentes com osteogênese imperfeita (OI). Métodos: Estudo transversal com 30 crianças e adolescentes com OI. Foram avaliados prontuários médicos, uso de bisfosfonatos, características socioeconômicas, dinamometria de preensão palmar, equilíbrio, hipermobilidade articular, nível de deambulação e escores do Pediatric Evaluation of Disability Inventory - Computer Adaptative Test (PEDI-CAT). Os dados foram apresentados em média e desvio padrão e comparados por teste t por Mann-Whitney, enquanto os categóricos foram apresentados em frequência e comparados pelo teste exato de Fisher. Análises intragrupos foram realizadas por análise de covariância (ANCOVA) ou Teste de Wilcoxon para postos sinalizados. O teste Tau-b de Kendall foi usado para correlações. Resultados: A idade variou de 6 a 18 anos. A amostra foi dividida em dois grupos de acordo com a gravidade da doença. Casos moderados/graves (n=10) apresentaram menor estatura e força muscular comparadas às dos leves (n=20). Fraqueza muscular foi observada em todos os casos de OI quando comparados à população normal. Não houve diferença nos domínios do PEDI-CAT com exceção do domínio mobilidade. Houve correlação entre o número de fraturas, tipo de OI, peso e equilíbrio e o domínio mobilidade; e entre os domínios Atividades Diárias e Mobilidade e Responsabilidade e Social/cognitivo do PEDI-CAT. Conclusões: Nossos achados sugerem que crianças com OI moderada/severa podem atingir o mesmo nível de funcionalidade que crianças com a forma leve. Fraturas podem ter grande influência no nível de funcionalidade e o tratamento deve enfocar a prevenção e a reabilitação desses eventos. Objetivo . (OI) Métodos 3 médicos bisfosfonatos socioeconômicas palmar articular PEDICAT. PEDICAT PEDI CAT (PEDI-CAT) MannWhitney, MannWhitney Mann Whitney, Whitney Mann-Whitney Fisher ANCOVA (ANCOVA sinalizados Taub Tau b correlações Resultados 1 anos doença moderadosgraves moderados graves n=10 n10 n 10 (n=10 n=20. n20 n=20 20 (n=20) normal mobilidade fraturas Socialcognitivo Social cognitivo CAT. Conclusões moderadasevera moderada severa leve eventos (OI (PEDI-CAT n=1 n1 (n=1 n2 n=2 2 (n=20 n= (n= (n=2 (n

ABSTRACT Objective: The aim of this study was to evaluate the functioning and associated factors in children and adolescents with osteogenesis imperfecta (OI). Methods: This is a cross-sectional study conducted on 30 children and adolescents with OI. Medical records, use of bisphosphonates, socioeconomic status, handgrip strength, balance, joint hypermobility, ambulatory level, and the Pediatric Evaluation of Disability Inventory—Computer Adaptative Test (PEDI-CAT) scores were assessed. Data is presented as mean and standard deviation and Student’s t-test or Mann–Whitney U test. Categorical data is presented as frequency and analyzed using Fisher’s exact test. Within-group analyses were conducted using ANCOVA or Wilcoxon signed-rank test. Correlations used Kendall’s Tau-b test. Results: The participants involved in this study were 6–18 years old. The sample was separated into two groups according to disease severity. The moderate/severe OI group (n=10) presented a lower height and muscular strength than the mild group (n=20). Muscle weakness was observed in all participants with OI when compared with the normal population. No differences were observed between the groups in the PEDI-CAT scores except for the mobility domain. There were correlations between the PEDI-CAT mobility domain and the number of fractures, OI type, weight, and balance; there was also a correlation between the PEDI-CAT daily activities, mobility, responsibility, and social/cognitive domains. Conclusions: The findings suggest that children with moderate/severe forms of OI can achieve the same function levels as children with mild OI. Fractures can have a major influence on the functional level, and treatment should focus on the prevention and rehabilitation of these events when they occur. Objective . (OI) Methods crosssectional cross sectional 3 records bisphosphonates status balance hypermobility level InventoryComputer Inventory Computer PEDICAT PEDI CAT (PEDI-CAT assessed Students Student s ttest t test MannWhitney Mann Whitney Fishers Fisher Withingroup Within signedrank signed rank Kendalls Kendall Taub Tau b Results 618 6 18 6–1 old severity moderatesevere moderate severe n=10 n10 n 10 (n=10 n=20. n20 n=20 20 (n=20) population fractures type weight activities responsibility socialcognitive social cognitive domains Conclusions occur (OI 61 1 6– n=1 n1 (n=1 n2 n=2 2 (n=20 n= (n= (n=2 (n

RESUMO Objetivo: O objetivo deste estudo foi realizar a correlação genótipo-fenótipo entre os resultados de cariótipos e as alterações neurológicas e psiquiátricas apresentadas em pacientes com síndrome de Turner (ST). Métodos: Um estudo retrospectivo foi conduzido nos registros médicos de 10/140 pacientes com ST e deficiências neuropsicológicas atendidos pelo Serviço de Genética Clínica de um hospital do sul do Brasil. Ademais, uma revisão foi realizada pelas plataformas científicas PubMed e Biblioteca Virtual em Saúde (BVS) de artigos publicados entre 1o de janeiro de 2012 e 1o de janeiro de 2023. Foram selecionados 14 artigos em uma análise em duas etapas. Resultados: Nossa pesquisa mostrou potencial correlação entre alterações neurológicas e psiquiátricas em pacientes com ST. Esses achados corroboram os descritos por outros autores — como a elevada prevalência de dificuldades de aprendizagem ou intelectuais. Entretanto, nossa amostra encontrou mais episódios convulsivos do que os descritos em outros estudos. Conclusões: A correlação estabelecida pode ser devida ao efeito dose-dependente do cromossomo X, visto que nossa revisão sugere que o número de cromossomos sexuais ou o desenvolvimento hormonal está associado a habilidades ou deficiências verbais, sociais e cognitivas. Objetivo genótipofenótipo genótipo fenótipo . (ST) Métodos 10140 10 140 10/14 Brasil Ademais BVS (BVS 201 2023 1 etapas Resultados intelectuais Entretanto estudos Conclusões dosedependente dose dependente X verbais cognitivas (ST 1014 10/1 20 202 101 10/ 2

ABSTRACT Objective: The objective of this study was to establish the genotype-phenotype correlation between karyotype results and the neurological and psychiatric alterations presented in patients with Turner syndrome (TS). Methods: A retrospective study was conducted on the medical records of 10/140 patients with TS and neurophysiological abnormalities seen at a university hospital in southern Brazil. In addition, a literature review spanning the period from January 1, 2012 to January 1, 2023 was carried out using the PubMed and Virtual Health Library databases. Results: Our study showed a potential correlation between neurological and psychiatric alterations in patients with TS. These findings are in accordance with those described in literature such as a high prevalence of learning or intellectual disabilities. However, our sample found more seizure episodes than those reported in other studies. Conclusions: The correlation established could be due to X chromosome dose–effect, as the review suggests that sex chromosome number and hormonal development can be associated with verbal, social, and cognitive skills or impairments. Objective genotypephenotype genotype phenotype . (TS) Methods 10140 10 140 10/14 Brazil addition 1 201 202 databases Results disabilities However studies Conclusions doseeffect dose effect dose–effect verbal social impairments (TS 1014 14 10/1 20 101 10/ 2

Abstract Introduction: The initial treatment of stenosing tenosynovitis is usually conservative. When there is no good response, it must be resolved by surgically releasing the A1 pulley, traditionally with open release (OR). However, there is the alternative of ultrasound-guided percutaneous A1 pulley release (UPAR), which has shown similar results. Objective: To evaluate the effectiveness and costs of UPAR compared to OR at our center. Method: A retrospective study was carried out in patients undergoing UPAR. Information on pain scale, mechanical symptoms (Quinnell grades), and disability (QuickDASH) was obtained before and after the procedure. The costs of UPAR and OR alternatives were evaluated. Results: A statistically significant improvement in pain, mechanical symptoms and disability was observed after the procedure. No complications were reported. UPAR was found to be 63% less expensive than the most economical OR alternative. Conclusion: UPAR is a safe and effective alternative to treat “trigger finger or thumb”, with low costs and a shorter recovery period compared to OR. UPAR should be considered as the initial treatment when other options have not been successful.

Resumen Introducción: El tratamiento inicial de la tenosinovitis estenosante suele ser conservador. Cuando no hay buena respuesta debe resolverse liberando quirúrgicamente la polea A1, tradicionalmente con liberación abierta (LA), sin embargo, existe la alternativa de la liberación percutánea de la polea A1 guiada por ultrasonido (LPAUS), que ha mostrado similares resultados. Objetivo: Evaluar la eficacia y costos de LPAUS en comparación con la LA en nuestro centro. Método: Se llevó a cabo un estudio retrospectivo en pacientes sometidos a LPAUS. Se obtuvo información sobre escala del dolor, síntomas mecánicos (grados de Quinnell) y discapacidad (QuickDASH) antes y después del procedimiento. Se evaluaron los costos de este y las alternativas de LA. Resultados: Se observó una mejora estadísticamente significativa en dolor, síntomas mecánicos y discapacidad después del procedimiento. No se informaron complicaciones. La LPAUS resultó ser un 63% menos costosa que la alternativa de LA más económica. Conclusión: La LPAUS es una alternativa segura y efectiva para tratar el «dedo o pulgar en gatillo», con bajos costos y un periodo de recuperación más corto en comparación con la LA. La LPAUS se debe considerar como tratamiento inicial cuando otras opciones no han tenido éxito.

ABSTRACT Introduction: Leprosy (Hansen's disease) is a neglected infectious disease that affects skin and peripheral nerves, triggering neuropathies and complications such as deformities and disabilities. Objective: determine epidemiological and clinical characteristics of patients with Leprosy in the Dermatological Specialties Center of the Ministry of Public Health and Social Welfare of Paraguay, from January 2021 to December 2022. Methodology: descriptive, observational, retrospective, cross-sectional study. Data management and analysis was carried out in an electronic spreadsheet (Excel from Microsoft Office 365 version 2405), then descriptive statistics were performed. Results: 123 cases of leprosy were diagnosed, 45 (36.58 %) were women and 78 (63.42 %) were men; the ages were between 17 and 86 years, the most affected range was 41 to 50 years. 112 cases (91.06 %) were multibacillary leprosy. The most frequent sign was infiltrated plaque, present in 88 cases (71.54 %). 58 patients (47.15 %) presented lepromatous reactions, 31 cases of type 1 (53.45 %). 34 cases (27.64 %) presented grade 1 disability and 10 cases (8.13 %) grade 2 disability. Conclusion: The profile of the patient with leprosy was male between 41 and 50 years, the majority being multibacillary cases. Early diagnosis and adequate treatment are essential to reduce the burden of the disease and disabilities.

RESUMEN Introducción: lepra (enfermedad de Hansen) es una patología infecciosa desatendida que afecta piel y nervios periféricos, desencadenando neuropatías y complicaciones como deformidades y discapacidades. Objetivos: determinar características epidemiológicas y clínicas de pacientes con lepra en el Centro de Especialidades Dermatológicas del Ministerio de Salud Pública y Bienestar Social de Paraguay, de enero 2021 a diciembre 2022. Metodología: estudio descriptivo, observacional, retrospectivo, de corte transversal. La gestión y análisis de datos se realizó en planilla electrónica (Excel del programa Microsoft Office 365 versión 2405), luego se realizó estadística descriptiva. Resultados: se diagnosticaron 123 casos de lepra, 45 (36,58 %) eran mujeres y 78 (63,42 %) varones; las edades estaban entre 17 y 86 años, el rango más afectado fue de 41 a 50 años. Eran lepra multibacilar 112 casos (91,06%). El signo más frecuente fue la placa infiltrada, presentada en 88 casos (71,54%). 58 pacientes (47,15%) presentaron reacciones lepromatosas, siendo, 31 casos de tipo 1 (53,45 %). 34 casos (27,64%) presentaron discapacidad grado 1 y 10 casos (8,13%) discapacidad grado 2. Conclusión: el perfil del paciente con lepra fue del sexo masculino entre 41 a 50 años, siendo la mayoría casos multibacilares. Es fundamentales el diagnóstico precoz y el tratamiento adecuado para reducir la carga de la enfermedad y las discapacidades.

Abstract In 2017, Decree 1421 was issued in Colombia, according to which all schools in the country were to welcome students with disabilities and offer them quality opportunities for their entry, permanence and graduation. The Ministry of Education (MEN, 2017a) gave a deadline of five years for this policy to be implemented in the national territory, counted from its approval. The objective of this research is to characterize the pedagogical practices, knowledge and institutional conditions (pedagogical and administrative type) in which a sample of Colombian teachers work, six years after the decree was issued. For this purpose, a transectional non-experimental quantitative design was used and a scale was applied to 249 teachers of early childhood education, elementary school, junior high school and vocational middle school. Based on the findings obtained, it can be concluded that there is a positive change in the pedagogical practices and knowledge of those teachers who have training in inclusion and who work in private schools that receive students with these life trajectories. Even so, the institutional conditions of the teachers surveyed still do not respond to inclusive institutional projects. Since, at the time of writing this paper, we did not find other similar studies in the country, these results are discussed in the light of international research on the subject and in the framework of national policy, and allow extrapolating the challenges faced by the Colombian educational system in welcoming students with disabilities.

Resumen En 2017 se expidió en Colombia el decreto 1421, según el cual todas las escuelas del país debían acoger estudiantes con discapacidad y ofrecerles oportunidades de calidad para su ingreso, permanencia y egreso. El Ministerio de Educación dio un plazo de cinco años, contados a partir de su aprobación, para que esta política se implementara en todo el territorio nacional. El objetivo de esta investigación es caracterizar las prácticas pedagógicas, los conocimientos y las condiciones institucionales (de tipo pedagógico-administrativo), en las que labora una muestra de docentes colombianos, seis años después de expedido el decreto. Para ello, se utilizó un diseño cuantitativo no experimental transeccional y la aplicación de una escala a 249 maestros y maestras de distintos niveles educativos. Con base en los hallazgos obtenidos, puede concluirse que hay un cambio positivo en las prácticas pedagógicas y los conocimientos de aquellos docentes que cuentan con formación en inclusión y que laboran en colegios que acogen alumnado con estas trayectorias de vida. Aun así, las condiciones institucionales del profesorado encuestado todavía no responden a proyectos inclusivos. Estos resultados se discuten a la luz de los retos que enfrenta el sistema educativo colombiano en pro de atender alumnado con discapacidad.

RESUMEN En este artículo se busca explicar la situación jurídica de la población penitenciaria con discapacidad en el Perú. Para ello, se realiza un estudio sobre las personas con discapacidad dentro de la realidad penitenciaria peruana, seguido por el análisis del marco jurídico respectivo, así como los avances y desafíos locales de sus derechos. Se propone mejoras al sistema penitenciario en aras de brindar una mayor accesibilidad, disponibilidad, aceptabilidad e inclusión en los establecimientos carcelarios. Estas mejoras consisten en el trato humano de la vulnerabilidad en reemplazo de la política resocializadora tradicional en tanto finalidad de la pena y la instauración de juzgados de ejecución penal para el procesamiento de los beneficios penitenciarios. Se emplea una metodología cualitativa con diseño documental y alcance descriptivo. Por último, como principales hallazgos, dada la extrema vulnerabilidad en que vive la población penitenciaria con discapacidad en el Perú, se destaca la necesidad de dotar a la pena de prisión de fundamentos políticos distributivos, facilitando así la alineación con estándares internacionales de derechos humanos que prioricen la reducción de barreras estructurales. En este respecto, es viable la adopción de la política del trato humano y la implementación de juzgados de ejecución penal con la finalidad de reducir la vulnerabilidad de los reclusos con discapacidad y promover el respeto de sus derechos fundamentales.

ABSTRACT This article aims to elucidate the legal situation of the incarcerated population with disabilities in Peru. To achieve this, a study is conducted on individuals with disabilities within the Peruvian penal reality, followed by an analysis of the corresponding legal framework and local progress and challenges regarding their rights. Proposed improvements to the prison system aim to enhance accessibility, availability, acceptability, and inclusion in correctional facilities. These enhancements involve treating vulnerability with humane considerations, replacing the traditional rehabilitative policy as the primary purpose of punishment. Additionally, the establishment of penal execution courts is proposed for processing penitentiary benefits. A qualitative methodology with a documentary design and descriptive scope is employed. As a key finding, given the extreme vulnerability of the incarcerated population with disabilities in Peru, there is a highlighted need to imbue the prison sentence with distributive political foundations, aligning with international Human Rights standards prioritizing the reduction of structural barriers. In this regard, the adoption of a humane treatment policy and the implementation of penal execution courts are deemed viable measures to reduce the vulnerability of inmates with disabilities and promote the respect of their fundamental rights.

Resumen Introducción: la lepra afecta a millones de personas deteriorando la salud física y mental, generando complicaciones como síntomas depresivos que pueden afectar la calidad de vida. Objetivo: estimar la prevalencia de síntomas depresivos en una agremiación de pacientes y expacientes con enfermedad de Hansen de una ciudad del Caribe colombiano. Materiales y métodos: estudio descriptivo con muestreo no probabilístico en miembros de una agremiación de pacientes y ex-pacientes con enfermedad de Hansen de una ciudad del Caribe colombiano. Los síntomas depresivos fueron estimados mediante test de Beck I y los resultados se contrastaron con variables sociodemográficas y clínicas mediante análisis bivariado. Resultados: participaron 51 personas, con una edad promedio de 52 años (IC 35,7-68,5), y predominio del sexo masculino (57%). El 39% de la población cursó bachillerato, el 25% se encontraban en tratamiento al momento de la encuesta y el 33% presentaban algún grado de discapacidad. El 27%, 16% y 2% de la población presentó depresión leve, moderada y severa respectivamente. El síntoma depresivo más frecuentemente descrito fue la fatiga (13%) seguido de cambios en el apetito (84,2%), llanto (81,6%), y tristeza (79%). No se encontró relación estadísticamente significativa entre presencia de síntomas depresivos y características sociodemográficas, el tratamiento y la discapacidad. Conclusiones: el 35% de los encuestados con el test de Beck I obtuvo calificaciones compatibles con depresión, se recomienda incluir manejo especializado en salud mental dentro del abordaje integral del paciente y expaciente con enfermedad de Hansen.

ABSTACT Introduction: Leprosy affects millions of people, impairing both physical and mental health and giving rise to complications such as depressive symptoms that can impact the quality of life. Objective: To estimate the prevalence of depressive symptoms in an association of patients and former patients with Hansen's disease in a city in the Colombian Caribbean. Materials and methods: A descriptive study with non-probabilistic sampling was conducted among members of an association of patients and former patients with Hansen's disease in a city in the Colombian Caribbean. Depressive symptoms were assessed using the Beck Depression Inventory, and the results were compared with sociodemographic and clinical variables through bivariate analysis. Results: Fifty-one individuals participated, with an average age of 52 years (CI 35.7-68.5), and a male predominance (57%). Thirty-nine percent of the population had completed high school, 25% were undergoing treatment at the time of the survey, and 33% had some degree of disability. Twenty-seven percent, 16%, and 2% of the population exhibited mild, moderate, and severe depression, respectively. The most frequently reported depressive symptom was fatigue (13%), followed by changes in appetite (84.2%), crying (81.6%), and sadness (79%). No statistically significant relationship was found between the presence of depressive symptoms and sociodemographic characteristics, treatment, or disability. Conclusions: It is evident that 35% of respondents scored in the range indicative of depression on the Beck Depression Inventory. Specialized mental health management is recommended to be included in the comprehensive care of patients and former patients with Hansen's disease.

Abstract: This study analyzes the experiences of 17 Colombian primary education teachers in caring for students with disabilities, registered in 17 educational institutions in 11 municipalities between 2018 and 2022. Through a narrative design and a questionnaire with open-ended questions, the interactions of these teachers with the educational environment were explored. Twelve psychological and thirteen pedagogical factors were identified, and their impact was examined depending on the types of disabilities and the specific characteristics of the students and educational contexts. The results reveal high variability and subjectivity in these factors, which can both favor and hinder inclusive educational practices. Additionally, the study examines the Individual Plan for Reasonable Adjustments, highlighting significant deficiencies in its implementation and resistance from some school sectors. This underscores challenges in adopting the inclusive education model promoted by the Colombian State. This analysis provides valuable insights for the continuous improvement of inclusive practices in the Colombian educational system

Resumen: Este estudio analiza las experiencias de 17 docentes colombianos de educación primaria en la atención a estudiantes con discapacidad, registradas en 17 instituciones educativas de 11 municipios entre 2018 y 2022. Mediante un diseño narrativo y un cuestionario de preguntas abiertas, se exploraron las interacciones de estos docentes con el entorno educativo. Se identificaron 12 factores psicológicos y 13 pedagógicos y se examinó su impacto en función de los tipos de discapacidad y las características específicas de los estudiantes y contextos educativos. Los resultados revelan una alta variabilidad y subjetividad en estos factores, los cuales pueden ser tanto favorecedores como obstaculizadores de las prácticas educativas inclusivas. Adicionalmente, el estudio examina el Plan Individual de Ajustes Razonables, destacando deficiencias significativas en su implementación y resistencia por parte de algunos sectores escolares, lo cual subraya desafíos en la adopción del modelo de educación inclusiva promovido por el Estado colombiano. Este análisis proporciona insights valiosos para la mejora continua de las prácticas inclusivas en el sistema educativo colombiano

Resumo: Este estudo analisa as experiências de 17 docentes colombianos do ensino primário no atendimento a alunos com deficiência, matriculados em 17 instituições de ensino em 11 municípios entre 2018 e 2022. Por meio de um desenho narrativo e de um questionário de perguntas abertas, foram exploradas as interações destes professores com o ambiente educacional. Foram identificados 12 fatores psicológicos e 13 pedagógicos e o seu impacto foi examinado em função dos tipos de deficiência e das características específicas dos estudantes e dos contextos educativos. Os resultados revelam alta variabilidade e subjetividade nesses fatores, o que pode favorecer ou dificultar práticas educativas inclusivas. Além disso, o estudo examina o Plano Individual de Ajustes Razoáveis, destacando falhas significativas na sua implementação e resistência por parte de alguns setores escolares, o que salienta desafios na adoção do modelo de educação inclusiva promovido pelo Estado colombiano. Esta análise fornece insights valiosos para a melhoria contínua das práticas inclusivas no sistema educacional colombiano

Abstract Introduction: Friendship positively influences human development. However, people with disabilities face difficulties in building and maintaining this bond. This study aims to explore and analyze the knowledge networks in the literature on friendship and disabilities from 2017 to 2022. Method: Using PRISMA criteria, the search was conducted in the Scopus and Web of Science databases. VOSviewer and Pajek software were used to construct and analyze the networks. Results: Sixty-eight articles were analyzed. The United States leads in publications, but the United Kingdom is more influential in the network. The main research areas are autism spectrum disorder, intellectual disability, social inclusion, social skills, and violence against people with disabilities. Influential documents address thematic analysis in psychology, and friendship among individuals with autism spectrum disorder and intellectual disability. Conclusions: Knowledge maps and network analysis help explore the literature, allowing an understanding of trends, the foundational intellectual structure, and scientific correlations.

Resumo Introdução: A amizade influencia positivamente o desenvolvimento humano. Todavia, pessoas com deficiencia enfrentam dificuldades para construir e manter esse vínculo. Este estudo objetiva explorar e analisar as redes de conhecimento da literatura sobre amizade e deficiencia de 2017 a 2022. Método: Utilizando critérios Prisma, a busca foi realizada nas bases de dados Scopus e Web of Science. Os softwares VOSviewer e Pajek foram usados para construir e analisar as redes. Resultados: Foram analisados 68 artigos. Os Estados Unidos lideram em publicaçoes, entretanto o Reino Unido é mais influente na rede. As principais investigaçoes na área sao: transtorno do espectro autista, deficiencia intelectual, inclusao social, habilidades sociais e violencia contra a pessoa com deficiencia. Documentos influentes abordam análise temática em psicologia, amizade de pessoas com transtorno do espectro autista e deficiencia intelectual. Conclusões: Os mapas de conhecimento e análise de redes ajudam a explorar a literatura, o que permite compreender tendencias, estrutura intelectual base e correlações científicas.

Universities have historically had ableist leanings that exclude people with disabilities. Yet, people with disabilities have a right to attend institutions of higher education, as does everyone else. What is called for is that institutions transform towards disability inclusion. The purpose of this article is to use the case study of research conducted at University of Cape Town (UCT) to suggest strategies for disability inclusion in institutions of higher education. The research question was: What does research carried out at UCT on disability inclusion related to staff, students, and curriculum tell us about strategies that have been used to achieve inclusion, the effectiveness of these strategies and what recommendations can be made for increasing the level of disability inclusion and equity at UCT? A scoping review of the literature on disability inclusion at UCT was conducted. Selected literature was thematically analysed based on the research question and aligned to the strategic goals of UCT. Four emergent themes are presented: including disability in the decolonial discourse, collaborating to enhance disability inclusion, enhancing disability inclusive social responsiveness, and other strategies to enhance systemic change towards disability inclusion. UCT has made significant strides to include students with disabilities, yet there is much still to be achieved. Disability inclusion in institutions of higher learning is not only about ensuring accessibility, but is also about addressing how disability is understood and how it is included in the curriculum.

Resumo Nesta contribuição para os estudos feministas da deficiência, busquei analisar as vivências de mulheres com deficiência que ocuparam/ocupam cargos de gestão em um Conselho Municipal, destacando suas experiências interseccionais. Para tanto, utilizei as metodologias da Pesquisa Narrativa e da Análise de Conteúdo, além da Pesquisa Participante e Interseccional. Como principal resultado, obtive confirmação de minha hipótese inicial de que mais de um tipo de sistema de opressão pode atuar quando uma mulher com deficiência ocupa um cargo de gestão pública. ocuparamocupam ocuparam ocupam Municipal interseccionais tanto Conteúdo Interseccional resultado pública

Abstract In this contribution to feminist disability studies, I seek to analyze the experiences of women with disabilities who occupied/occupy administrative positions in a Municipal Council, highlighting their intersectional experiences. To do so, I used the methodologies of Narrative Research, Content Analysis, Participatory Research, and Intersectional research. As a main result of the study, I obtained confirmation of my initial hypothesis that more than one type of system of oppression is at work when a woman with a disability occupies a public administrative position. studies occupiedoccupy occupied occupy Council so Research Analysis research study position

Resumo O complexo da esclerose tuberosa (CET) é uma doença autossômica dominante caracterizada pelo desenvolvimento de hamartomas no sistema nervoso central, coração, pele, pulmões e rins e outras manifestações, incluindo convulsões, tubérculos corticais, linhas de migração radial, autismo e deficiência cognitiva. A doença está associada a variantes patogênicas nos genes TSC1 ou TSC2, resultando na hiperativação da via mTOR, um importante regulador do crescimento e metabolismo celular. Consequentemente, a hiperativação da via mTOR leva à proliferação anormal do tecido e ao desenvolvimento de tumores sólidos. O envolvimento renal no CET é caracterizado pelo desenvolvimento de lesões císticas, carcinoma de células renais e angiomiolipomas renais, que podem progredir e causar dor, sangramento e perda da função renal. Nos últimos anos, houve uma mudança notável na abordagem terapêutica do CET, especialmente no tratamento das manifestações renais. Os inibidores de mTOR surgiram como a principal opção terapêutica, enquanto intervenções cirúrgicas como nefrectomia e embolização são reservadas principalmente para complicações que não respondem ao tratamento clínico, como hemorragia renal grave. Esta revisão se concentra nas principais características clínicas do CET, nos mecanismos subjacentes ao envolvimento renal, nos recentes avanços na terapia para lesões renais e nas perspectivas futuras. (CET central coração pele convulsões corticais radial cognitiva TSC TSC2 celular Consequentemente sólidos císticas dor anos clínico grave futuras

Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant disease characterized by the development of hamartomas in the central nervous system, heart, skin, lungs, and kidneys and other manifestations including seizures, cortical tubers, radial migration lines, autism and cognitive disability. The disease is associated with pathogenic variants in the TSC1 or TSC2 genes, resulting in the hyperactivation of the mTOR pathway, a key regulator of cell growth and metabolism. Consequently, the hyperactivation of the mTOR pathway leads to abnormal tissue proliferation and the development of solid tumors. Kidney involvement in TSC is characterized by the development of cystic lesions, renal cell carcinoma and renal angiomyolipomas, which may progress and cause pain, bleeding, and loss of kidney function. Over the past years, there has been a notable shift in the therapeutic approach to TSC, particularly in addressing renal manifestations. mTOR inhibitors have emerged as the primary therapeutic option, whereas surgical interventions like nephrectomy and embolization being reserved primarily for complications unresponsive to clinical treatment, such as severe renal hemorrhage. This review focuses on the main clinical characteristics of TSC, the mechanisms underlying kidney involvement, the recent advances in therapy for kidney lesions, and the future perspectives. (TSC system heart skin lungs seizures tubers lines disability genes metabolism Consequently tumors lesions angiomyolipomas pain bleeding function years option treatment hemorrhage perspectives

Rare diseases (RDs) are individually rare but collectively common, affecting an estimated 1 in 15 individuals in South Africa (SA). Patients with an RD often face a long diagnostic odyssey (>5 years on average) and many obstacles in accessing healthcare. A scoping review was conducted to assess the impact of the COVID-19 pandemic on the SA RD community. Fourteen studies met the inclusion criteria and were explored using thematic analysis, which showed that RD patients were further marginalised during the pandemic, particularly in access to healthcare. Increased inclusivity in policy creation and integrated community-based healthcare are recommended to ensure that RD patients are not an afterthought in future crises.

ABSTRACT Objectives. To determine the requirement and time to mechanical ventilation and Intensive Care Unit (ICU), hospitalization and hospitalization time, death and disability of the axonal variants of Guillain-Barré Syndrome (GBS) in comparison with the acute demyelinating variant in patients of all the ages. Materials and methods. The systematic review that included patients with GBS. The exposure variable was the axonal variants and the comparator was acute inflammatory demyelinating polyneuropathy (AIDP). The outcomes were the requirement and time on mechanical ventilation (MV), requirement and time in the ICU, hospitalization time, disability and death. The NewCasttle-Ottawa Scale (NOS) was used to assess risk of bias. A meta-analysis was conducted to calculate mean differences and relative risks (RR) with their 95% confidence intervals (CI) using inverse variances and random effects models. Results. Of the 3116 articles found, 46 met the selection criteria. The time on MV was 7.42 days (95% CI: 0.36 to 1.48) and the hospitalization time was 3.11 (95% CI: 0.73 to 5.49) days for the axonal variants. The axonal variants had a RR of 0.47 (95% CI: 0.24 to 0.92) for the requirement of MV in adults, but it was 1.68 (95% CI: 1.25 to 2.25) in children. There was a high statistical heterogeneity. Conclusions. Axonal variants showed, on average, longer MV and hospitalization time, overall and by subgroups. A high MV requirement was found for axonal variants in children; it was lower for adults.

RESUMEN Objetivos. Determinar el requerimiento y tiempo para ventilación mecánica y Unidad de Cuidados Intensivos (UCI), hospitalización y tiempo de hospitalización, muerte y discapacidad de las variantes axonales del Síndrome de Guillain-Barré (SGB) en comparación con la variante aguda desmielinizante en pacientes de todas las edades. Materiales y métodos. Revisión sistemática que incluyó pacientes con SGB; la exposición fueron las variantes axonales y el comparador la polineuropatía desmielinizante inflamatoria aguda (AIDP) los desenlaces fueron el requerimiento y tiempo en ventilación mecánica (VM), requerimiento y tiempo en la UCI, tiempo de hospitalización, discapacidad y muerte. Se utilizó la escala NewCasttle-Ottawa (NOS) para evaluar el riesgo de sesgo. Se realizó un metaanálisis para calcular las diferencias de medias y los riesgos relativos (RR) con sus intervalos de confianza (IC) del 95% utilizando varianzas inversas y modelos de efectos aleatorios. Resultados. De los 3116 artículos encontrados, 46 cumplieron los criterios de selección. El tiempo en VM fue 7,42 días (IC95%: 0,36 a 1,48) y el tiempo de hospitalización fue 3,11 (IC95%: 0,73 a 5,49) días en las variantes axonales. Las variantes axonales tuvieron un RR de 0,47 (IC95%: 0,24 a 0,92) para el requerimiento de VM en adultos, pero en niños fue de 1,68 (IC95%: 1,25 a 2,25). Hubo una alta heterogeneidad estadística. Conclusiones. Las variantes axonales tienen en promedio mayor tiempo de VM y de hospitalización, en total y por subgrupos. Se observó un mayor requerimiento de VM para las variantes axonales en niños; mientras que en los adultos fue menor.

Resumen El trastorno depresivo mayor (TDM) ha ganado relevancia en los últimos años, ya que es una de las principales causas de discapacidad a nivel mundial y ejerce un impacto significativo en la vida diaria de quienes lo experimentan. La relación entre la disbiosis intestinal y el TDM ha surgido como un componente crucial en el ámbito de la salud mental. La microbiota intestinal, que abarca una amplia diversidad de microorganismos, establece una conexión bidireccional con el TDM a través del eje microbiota-intestino-cerebro, la neuroinflamación y alteración de la función cerebral. El presente trabajo tuvo como objetivo, analizar la relación entre los problemas de equilibrio de los microorganismos en el intestino (fenómeno conocido como “disbiosis”) y el TDM. Se adoptó un enfoque cualitativo que combinó análisis bibliográfico y descriptivo, priorizando fuentes primarias en psicología, neurociencia y microbiología. Se examinaron investigaciones en inglés y español desde 2019 hasta 2023 utilizando motores de búsqueda y bases de datos reconocidas. En este contexto, se observó que el uso de probióticos se ha vuelto cada vez más relevante como parte del tratamiento complementario para el TDM. Los probióticos, como Lactobacillus plantarum DP189 y la bacteria Roseburia intestinalis, ejercen un impacto positivo en la microbiota intestinal, integridad de la barrera hematoencefálica y producción de neurotransmisores. La revisión destaca el papel crucial de la microbiota intestinal en el TDM y la prometedora utilidad de los probióticos como tratamiento complementario. Esto sugiere nuevas perspectivas terapéuticas y subraya la importancia de futuras investigaciones para comprender mejor esta compleja interacción.

Abstract Major depressive disorder (MDD) has gained relevance in recent years, as it is one of the main causes of disability worldwide and has a significant impact on the daily lives of those who experience it. The relationship between gut dysbiosis and MDD has emerged as a crucial component in the field of mental health. The gut microbiota, which encompasses a wide diversity of microorganisms, establishes a bidirectional connection with MDD through the microbiota-gut-brain axis, neuroinflammation and alteration of brain function. The objective of this work was to analyze the relationship between problems with the balance of microorganisms in the intestine (a phenomenon known as “dysbiosis”) and MDD. A qualitative approach was adopted that combined bibliographic and descriptive analysis, prioritizing primary sources in psychology, neuroscience and microbiology. Research in English and Spanish from 2019 to 2023 was examined using recognized search engines and databases. In this context, it was observed that the use of probiotics has become increasingly relevant as part of complementary treatment for MDD. Probiotics, such as Lactobacillus plantarum DP189 and the bacteria Roseburia intestinalis, have a positive impact on the intestinal microbiota, blood-brain barrier integrity, and neurotransmitter production. The review highlights the crucial role of gut microbiota in MDD and the promising utility of probiotics as a complementary treatment. This suggests new therapeutic perspectives and underlines the importance of future research to better understand this complex interaction.