A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem.

People with rare lysosomal storage diseases face challenges in their care that arise from disease complexity and heterogeneity, compounded by many healthcare professionals being unfamiliar with these diseases. These challenges can result in long diagnostic journeys and inadequate care. Over 30 years ago, the Rare Disease Registries for Gaucher, Fabry, Mucopolysaccharidosis type I and Pompe diseases were established to address knowledge gaps in disease natural history, clinical manifestations of disease and treatment outcomes. Evidence generated from the real-world data collected in these registries supports multiple stakeholders, including patients, healthcare providers, drug developers, researchers and regulators. To maximise the impact of real-world evidence from these registries, engagement and collaboration with the patient communities is essential. To this end, the Rare Disease Registries Patient Council was established in 2019 as a partnership between the Rare Disease Registries and global and local patient advocacy groups to share perspectives on how registry data are used and disseminated. The Patient Council has resulted in a number of patient initiatives including patient representation at Rare Disease Registries advisory boards; development of plain language summaries of registry publications to increase availability of real-world evidence to patient communities; and implementation of digital innovations such as electronic patient-reported outcomes, and patient-facing registry reports and electronic consent (in development), all to enhance patient engagement. The Patient Council is building on the foundations of industry-patient advocacy group collaboration to fully integrate patient communities in decision-making and co-create solutions for the rare disease community.

Natural ventilation and surface temperature distribution of piglet crate heated floors / Ventilação natural e temperatura da superfície de pisos aquecidos em escamoteadores

This research had the objective of evaluating the influence of the natural ventilation on the surface temperature distribution of heated crates. The research used six crates from a farrowing room in a commercial swine production farm located in the state of São Paulo, Brazil. Three crates were heated using a heat mat while the other three had the environment heated by incandescent light bulbs (200W) fixed on the lateral wall. The surface temperature of the crate's floor (1.55x0.55m) was registered in 36 points, distributed in 18 quadrants (0.26x0.18m) using an infrared thermometer in three different conditions of the room's natural ventilation: opened, semi-opened, and closed lateral curtain. The isotherms and the temperature distribution of the floor heat were processed using the SURFER® (1995), and the statistical analysis was done using the MINITAB® (Statistical..., 2002). It was found that the room's natural ventilation had a significant influence on crate floor surface temperature distribution. The crate with a heat mat system provided higher temperatures and led to a more homogeneous surface temperature distribution.

O objetivo deste trabalho foi avaliar a influência da ventilação natural sobre a distribuição da temperatura na superfície de pisos aquecidos em escamoteadores. Foram avaliados seis escamoteadores da maternidade de uma granja de suínos localizada no estado de São Paulo. Dentre os escamoteadores avaliados, três deles usavam piso aquecido para o acondicionamento dos leitões, e os outros usavam lâmpadas incandescentes (200W), fixadas na parede lateral do interior do escamoteador. A temperatura da superfície do piso (1,55x0,55m) foi registrada medindo-se 36 pontos distribuídos em 18 quadrantes (0,26x0,18m), por meio de um termômetro infravermelho, em três diferentes condições de ventilação natural: com cortina lateral aberta, semiaberta e totalmente fechada. As isotermas e a distribuição da temperatura sobre o piso aquecido foram processadas usando-se o software SURFER®. Verificou-se que a ventilação natural teve efeito sobre a distribuição da temperatura da superfície do piso dos escamoteadores. O escamoteador aquecido com manta térmica forneceu temperaturas mais altas e distribuição mais homogênea na superfície de contato com os leitões.

Demencia del lóbulo frontal de etiología vascular. Presentación de un caso / Frontal lobe dementia of vascular aetiology. A case report

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Manifestaciones clínicas de la toxoplasmosis cerebral en pacientes cubanos con sida / Clinical features of cerebral toxoplasmosis in cuban patients with aids

Introducción. La neurotoxoplasmosis (NTX) es una de las infecciones oportunistas más frecuentes en el paciente infectado por el virus de inmunodeficiencia humana y se presenta con diversidad de manifestaciones clínicas en el huésped inmunoafectado. Pacientes y métodos. Realizamos un estudio descriptivo horizontal, retrospectivo, en 88 pacientes atendidos en el Instituto Pedro Kourí, durante un período de 3 años, con el diagnóstico clínico de NTX, con el propósito de describir qué formas clínicas de presentación en nuestro medio son las más frecuentes, así como evaluar la utilidad de los exámenes paraclínicos en el diagnóstico presumible. Se les realizó examen clínico, estudio del LCR, detección de los títulos de la inmunofluorescencia indirecta (IFI) para Toxoplasma, estudios imaginológicos (TAC), así como recuento de poblaciones linfocitarias. Resultados. Los síntomas que se presentaron con mayor frecuencia fueron: cefalalgia en un 79 por ciento, fiebre en un 55,68 por ciento, defecto motor en el 44,31 por ciento y trastornos de la conciencia en el 29,54 por ciento de los pacientes. Los títulos de IFI estaban negativos en el 31,54 por ciento de los pacientes, entre 1/16 y 1/32 en el 38,34 por ciento, y entre 1/64 y 1/1.024 en sólo el 30,07 por ciento de los casos. El recuento de linfocitos T CD4+ se encontraba por debajo de 200 células en el 66,7 por ciento de los pacientes; el 72 por ciento de los estudios imaginológicos evidenciaron lesiones típicas, y se asociaron a otras entidades en el 38 por ciento de los casos (linfomas, criptococosis, meningoencefalitis tuberculosa y encefalitis por citomegalovirus). Conclusiones. La NTX en el paciente con sida se presenta frecuentemente en nuestro medio con cefalalgia, asociada a fiebre, déficit motor y trastornos de conciencia, y su diagnóstico debe complementarse con el estudio inmunológico e imaginológico, pues los resultados de los estudios serológicos y del LCR son más inespecíficos en esta enfermedad (AU)