Nova pesquisa sobre as coleções de Richard Spruce na Amazônia: uma colaboração Brasil-Reino Unido

The Northwest Amazon comprises a large region of equatorial forest on the border of Brazil, Colombia and Venezuela, which has been inhabited by indigenous peoples since the pre-colonial period. Today they occupy 80% of its area. Travellers such as Richard Spruce, who visited the region in the 1850s-1860s, described the vitality and dynamics of these populations, demonstrated by the size of their longhouses, their extensive inter-communal ceremonies, and their rich material culture. The biocultural objects and associated information collected by Richard Spruce constitute a unique point of reference for the useful plants, ethnobotany, anthropology and environmental history of the region. Housed at the Royal Botanic Gardens, Kew and the British Museum, both in London, this underresearched collection incorporates indigenous plant-based artefacts, samples of useful plant products, detailed archival notes on the use of plants by inhabitants of the Amazon, and accompanying herbarium voucher collections. This paper focusses on an ongoing research programme aimed at building capacity in Brazil to research, cataloguing and mobilising data from these biocultural collections, and developing these important resources for improved understanding of the useful and cultural properties of plants. It aims to build collaborative relationships, making biocultural collections and associated data freely accessible online, and above all to strengthen capacity of indigenous communities on the Rio Negro for autonomous research into material culture and plant use. We present the activities we have developed in the first two years of the programme. Workshops at Kew, Rio de Janeiro and São Gabriel da Cachoeira have enabled the Spruce collections to be fully digitised and artefacts made available through the Reflora portal (reflora.jbrj.gov. br). Training has been given in collection and study of biocultural objects, both to museum staff and representatives of indigenous communities, and a research agenda developed that focuses on better understanding of the shifting relationships between people and natural resources over the last 200 years. We discuss how a broad collaboration has led to constructive, culturally appropriate engagement with local communities, providing a portal into the world of scientific knowledge and helping to mobilise both scientific and indigenous knowledge in a mutually beneficial manner

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.

BACKGROUND: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. METHODS: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. RESULTS: A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. CONCLUSIONS: Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry

Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment patterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 years. A search was conducted to identify the variables containing both medical and non-medical resource use information within TOSCA. This search was performed both at the level of the core project as well as at the level of the research projects on epilepsy, subependymal giant cell astrocytoma (SEGA), lymphangioleiomyomatosis (LAM), and renal angiomyolipoma (rAML) taking into account the timepoints of the study, age groups, and countries. Data from the quality of life (QoL) research project were analyzed by type of visit and age at enrollment. Treatments varied greatly depending on the clinical manifestation, timepoint in the study, and age groups. GAB Aergics were the most prescribed drugs for epilepsy, and mTOR inhibitors are dramatically replacing surgery in patients with SEGA, despite current recommendations proposing both treatment options. mTOR inhibitors are also becoming common treatments in rAML and LAM patients. Forty-two out of the 143 patients (29.4%) who participated in the QoL research project reported inpatient stays over the last year. Data from non-medical resource use showed the critical impact of TSC on job status and capacity. Disability allowances were more common in children than adults (51.1% vs 38.2%). Psychological counseling, social services and social worker services were needed by <15% of the patients, regardless of age. The long-term nature, together with the variability in its clinical manifestations, makes TSC a complex and resource-demanding disease. The present study shows a comprehensive picture of the resource use implications of TSC

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex

BACKGROUND: This study evaluated the characteristics of subependymal giant cell astrocytoma (SEGA) in patients with tuberous sclerosis complex (TSC) entered into the TuberOus SClerosis registry to increase disease Awareness (TOSCA). METHODS: The study was conducted at 170 sites across 31 countries. Data from patients of any age with a documented clinical visit for TSC in the 12 months preceding enrollment or those newly diagnosed with TSC were entered. RESULTS: SEGA were reported in 554 of 2,216 patients (25%). Median age at diagnosis of SEGA was 8 years (range, 18 years. SEGA were symptomatic in 42.1% of patients. Symptoms included increased seizure frequency (15.8%), behavioural disturbance (11.9%), and regression/loss of cognitive skills (9.9%), in addition to those typically associated with increased intracranial pressure. SEGA were significantly more frequent in patients with TSC2 compared to TSC1 variants (33.7 vs. 13.2 %, p < 0.0001). Main treatment modalities included surgery (59.6%) and mammalian target of rapamycin (mTOR) inhibitors (49%). CONCLUSIONS: Although SEGA diagnosis and growth typically occurs during childhood, SEGA can occur and grow in both infants and adults

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study

The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2

Obstrução nasal e alto escore de Mallampati como fatores de risco associados para Apneia Obstrutiva do Sono Nasal obstruction and high Mallampati score as risk factors for Obstructive Sleep Apnea

Os distúrbios respiratórios do sono estão associados à perviedade das vias aéreas superiores. Obstrução nasal é associada com o aumento de eventos de apneia do sono, principalmente pelo aumento da pressão negativa imposta às vias aéreas durante a inspiração. OBJETIVO: Avaliar a influência da obstrução nasal associada à classificação modificada de Mallampati na gravidade da SAOS. MATERIAIS E MÉTODOS: Foram avaliados e classificados 206 pacientes com queixa de roncos e história sugestiva de SAOS através do Escore Modificado de Mallampati, Friedman, obstrução nasal e quanto à gravidade da SAOS pelo IAH. RESULTADOS: Foram incluídos 168 pacientes que se submeteram ao estudo de polissonografia no laboratório de sono. Uma crostabulação foi feita entre o escore modificado de Mallampati, obstrução nasal e o IAH. O Oddis Ratio entre alto escore de Mallampati e IAH foi OR=5,053, IC 95%=1,458 - 7,517(p = 0,0071). Alto Mallampati associado com obstrução nasal se correlacionam com SAOS (p=0,0227). Entretanto, a influência da obstrução nasal sobre a relação do alto escore de Mallampati e SAOS não foi significativa OR = 2,850, IC 95%=0,992 - 8,189. CONCLUSÃO: A associação de alto escore de Mallampati e obstrução nasal é fator de risco para agravamento da SAOS.Respiratory sleep disorders are strongly associated with upper airway patency. Nasal obstruction is associated with higher incidences of sleep apnea, primarily by increasing the negative pressure on the airway during inspiration. AIMS: To evaluate the influence of nasal obstruction in the worsening of sleep apnea in patients with OSA and a high score on the modified classification of Mallampati. MATERIALS AND METHODS: We evaluated and classified 206 patients complaining of snoring, and with a past suggestive of OSA through the Modified Mallampati score, Friedman, nasal obstruction and the severity of OSA by AHI. RESULTS: 168 patients who underwent polysomnography were included. Cross-plotting was made comparing the modified Mallampati score, nasal obstruction and AIH. The odds ratio between high Mallampati score and AHI was OR = 5.053, 95% CI = 1.458 to 7.517 (p = 0.0071). High Mallampati score associated with nasal obstruction was correlated with OSAS (p = 0.0227). However the influence of nasal obstruction on the relationship of high Mallampati score and OSA was not significant: OR = 2.850, 95% CI = 0.992 to 8.189. CONCLUSION: The combination of high Mallampati score and nasal obstruction represents a greater risk factor for worsening of OSA