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72 result(s) for "Cristiano, Lara"
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Diagnostic magnetic resonance imaging biomarkers for facioscapulohumeral muscular dystrophy identified by machine learning
BackgroundThe diagnosis of facioscapulohumeral muscular dystrophy (FSHD) can be challenging in patients not displaying the classical phenotype or with atypical clinical features. Despite the identification by magnetic resonance imaging (MRI) of selective patterns of muscle involvement, their specificity and added diagnostic value are unknown.MethodsWe aimed to identify the radiological features more useful to distinguish FSHD from other myopathies and test the diagnostic accuracy of MRI. A retrospective cohort of 295 patients (187 FSHD, 108 non-FSHD) studied by upper and lower-limb muscle MRI was analyzed. Scans were evaluated for the presence of 15 radiological features. A random forest machine learning algorithm was used to identify the most relevant for FSHD diagnosis. Different patterns were created by their combination and diagnostic accuracy of each of them was tested.ResultsThe combination of trapezius involvement and bilateral subscapularis muscle sparing achieved the best diagnostic accuracy (0.89, 95% Confidence Interval [0.85–0.92]) with 0.90 [0.85–0.94] sensitivity and 0.88 [0.80–0.93] specificity. This pattern correctly identified 91% atypical FSHD patients of our cohort. The combination of trapezius involvement, bilateral subscapularis and iliopsoas sparing and asymmetric involvement of upper and lower-limb muscles was pathognomonic for FSHD, yielding a specificity of 0.99 [0.95–1.00].ConclusionsWe identified MRI patterns that showed a high diagnostic power in promptly discriminating FSHD from other muscle disorders, with comparable performance irrespective of typical or atypical clinical features. Upper girdle in addition to lower-limb muscle imaging should be extensively implemented in the diagnostic workup to support or exclude a diagnosis of FSHD.
Functional levels and MRI patterns of muscle involvement in upper limbs in Duchenne muscular dystrophy
The aim of the study was to evaluate the spectrum of upper limb functional activities and imaging finding in a cohort of patients affected by Duchenne muscular dystrophy. Thirty-one patients of age between 5 and 29 years were included in the study (17 ambulant and 14 non-ambulant). They were all assessed using the Performance of Upper Limb (PUL) test and muscle MRI of shoulder, arm and forearm in order to establish if the functional scores obtained at shoulder, mid and distal level related to specific patterns of involvement in each upper limb segment on muscle MRI. At shoulder level, latissimus dorsi, serratus anterior, infraspinatus and subscapularis were always involved, even in patients with full functional scores at shoulder level. Diffuse and severe involvement of all muscles was found in the patients with a PUL shoulder functional score of ≤ 5. At arm level biceps brachii, brachialis and triceps were generally concordantly involved or spared. Some degree of involvement could already be detected in patients with reduced scores on the PUL mid domain. They were generally severely involved in patients with functional scores less than 6 at mid-level. At distal level supinator and pronator muscles were often involved, followed by brachioradialis and, less frequently, by the muscles of the flexor compartment. The extensor muscles were generally completely spared. A diffuse and severe involvement was found only in patients who had very low scores (8 or below) on the PUL distal domain. The integrated use of functional scales and imaging allowed to establish patterns of involvement at each level, and the functional scores that were more frequently associated with diffuse and severe involvement.
Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature
Many qualitative and quantitative Magnetic Resonance Imaging (MRI) techniques have been applied to evaluate muscle fat degeneration in Duchenne muscular dystrophy (DMD) subjects, but only few studies have focused on the upper limbs. We reviewed the literature in order to evaluate the association between muscle MRI findings and motor function levels in the upper limbs of DMD patients. Ten studies with upper limb muscle MRI data were available. Four explored all upper limb segments, while six explored only the forearm. Functional assessments were performed in nine of the ten studies. All of the studies showed a significant correlation between muscle MRI changes and motor function levels in both ambulant and non-ambulant DMD patients.
MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients
Only few studies have reported muscle involvement in spinal muscular atrophy using muscle MRI but this has not been systematically investigated in a large cohort of both pediatric and adult patients with type 2 and type 3 spinal muscular atrophy. The aim of the present study was to define possible patterns of muscle involvement on MRI, assessing both fatty replacement and muscle atrophy, in a cohort of type 2 and type 3 spinal muscular atrophy children and adults (age range 2–45 years), including both ambulant and non-ambulant patients. Muscle MRI protocol consisted in T1-weighted sequences acquired on axial plane covering the pelvis, the thigh, and the leg with contiguous slices. Each muscle was examined through its whole extension using a grading system that allows a semiquantitative evaluation of fatty infiltration. Thigh muscles were also grouped in anterior, posterior, and medial compartment for classification of global atrophy. The results showed a large variability in both type 2 and type 3 spinal muscular atrophy, with a various degree of proximal to distal gradient. Some muscles, such us the adductor longus and gracilis were always selectively spared. In all patients, the involvement was a combination of muscle atrophy and muscle infiltration. The variability observed may help to better understand both natural history and response to new treatments.
Hybrid and/or mixed infection by pig and human Ascaris in a Guarani indigenous village in southern Brazil
Ascaris lumbricoides and Ascaris suum are nematode parasites that infect millions of people and pigs worldwide, respectively. Reports of cross-infection and hybridization between the two species has stimulated molecular epidemiological studies of the Ascaris genus. In this study, we evaluated the dynamics of Ascaris transmission between Guarani indigenous schoolchildren, pigs, and the environment of a village in the state of Paraná, southern Brazil. Parasitological and molecular analyses of fecal samples from humans and pigs, and soil samples from the village were carried out. Eggs of Ascaris spp. were observed in 8.4% (7/83) of human samples, 44.4% (8/18) of pig samples, and 8.9% (6/68) of soil samples. PCR amplification of the ITS-1 locus of the rDNA gene in samples that were positive in the parasitological examination revealed mixed infection and/or hybrids of the two species, A. lumbricoides and A. suum, in human and swine hosts. The soil, which was contaminated by both human and swine feces, also contained eggs of the two Ascaris species and hybrids, thus constituting a source of Ascaris infection for both hosts. DNA from A. lumbricoides and A. suum, individually, was detected in samples from humans and pigs, respectively, and the soil, while DNA from hybrid and/or Ascaris spp. was detected in samples from both hosts and the soil. The results of this study confirm the necessity of a One Health approach with the correct disposal of both human and animal feces to control the spread of human and swine ascariasis.
Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy
Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.
Teachers as multipliers of knowledge about schistosomiasis: a possible approach for health education programmes
Background In the past decade, Brazil has significantly reduced the prevalence of schistosomiasis through a combined effort of early treatment of infected people, expansion of basic sanitation infrastructure and educational measures. Despite these efforts, in some areas, prevalence of schistosomiasis exceeds 20% of the school population, who lack knowledge of the risks of the disease. Action can be taken in schools to empower this population about their health condition. This paper describes the role of the teacher as a multiplier of knowledge about schistosomiasis and proposes two different approaches to training these teachers. Methods This study used mixed methods to evaluate training of teachers and educational intervention with those teachers’ pupils. Two training courses, each with 40 h of face-to-face activity, were offered to 19 teachers, using two different but complementary approaches, based on theoretical references and specific educational strategies: Critical Pedagogical Approach (Training Course I, held in 2013) and Creative Play Approach (Training Course II, held in 2014).The courses included classroom activities, laboratory and field work. After the training, the teachers conducted activities on schistosomiasis with their pupils. These activities involved constructing educational materials and cultural productions. The pupils’ knowledge about the disease was evaluated before the activities and 12 months later. The teachers’ acceptance and perceptions were assessed through structured interviews and subsequent thematic analysis. The Shistosoma mansoni infection status of teachers and their students was also assessed using the Kato Katz stool test. Results The parasitological study showed 31.6% of the teachers and 21.4% of the pupils to be positive for S. mansoni . The teachers’ knowledge of important aspects of schistosomiasis transmission and prevention was fragmented and incorrect prior to the training. The teachers’ knowledge changed significantly after the training and they were strongly accepting of the pedagogical methods used during the training. The level of their pupils’ knowledge about the disease had increased significantly (p < 0.05). However, pupils responded that, even after the educational activities, they still had contact with the city’s contaminated waters (p > 0.05). Conclusions The results of this study underline the importance of schools and teachers as partners in controlling and eliminating schistosomiasis. Teacher training on the disease significantly increases their pupils’ knowledge, reflecting empowerment with regard to local health conditions.
Development of an initial training and evaluation programme for manual lower limb muscle MRI segmentation
Background Magnetic resonance imaging (MRI) quantification of intramuscular fat accumulation is a responsive biomarker in neuromuscular diseases. Despite emergence of automated methods, manual muscle segmentation remains an essential foundation. We aimed to develop a training programme for new observers to demonstrate competence in lower limb muscle segmentation and establish reliability benchmarks for future human observers and machine learning segmentation packages. Methods The learning phase of the training programme comprised a training manual, direct instruction, and eight lower limb MRI scans with reference standard large and small regions of interest (ROIs). The assessment phase used test–retest scans from two patients and two healthy controls. Interscan and interobserver reliability metrics were calculated to identify underperforming outliers and to determine competency benchmarks. Results Three experienced observers undertook the assessment phase, whilst eight new observers completed the full training programme. Two of the new observers were identified as underperforming outliers, relating to variation in size or consistency of segmentations; six had interscan and interobserver reliability equivalent to those of experienced observers. The calculated benchmark for the Sørensen-Dice similarity coefficient between observers was greater than 0.87 and 0.92 for individual thigh and calf muscles, respectively. Interscan and interobserver reliability were significantly higher for large than small ROIs (all p  < 0.001). Conclusions We developed, implemented, and analysed the first formal training programme for manual lower limb muscle segmentation. Large ROI showed superior reliability to small ROI for fat fraction assessment. Relevance statement Observers competent in lower limb muscle segmentation are critical to application of quantitative muscle MRI biomarkers in neuromuscular diseases. This study has established competency benchmarks for future human observers or automated segmentation methods. Key points • Observers competent in muscle segmentation are critical for quantitative muscle MRI biomarkers. • A training programme for muscle segmentation was undertaken by eight new observers. • We established competency benchmarks for future human observers or automated segmentation methods. Graphical Abstract
Do compromisso público ao mimetismo mercantil
As Instituições Comunitárias de Educação Superior (ICES) são organizações da sociedade civil. A lei que as define, de 2013, estabelece que as instituições assim qualificadas se equiparam às IES públicas no acesso a editais de fomento e repasse de recursos públicos. Os avanços legais não apresentaram efeitos significativos. A educação superior brasileira tem se tornado um negócio lucrativo, com concentração de matrículas em poucas IES mercantis, que ofertam cursos com mensalidades baixas, predominantemente em EAD. Instaura-se um cenário de competição dentro do setor privado, contribuindo para a crise do segmento comunitário, que busca reposicionar-se. O artigo verifica a hipótese de que tal reposicionamento é caracterizado por um movimento de isomorfismo mimético das ICES em direção ao segmento privado com fins lucrativos (PCFL). Apresentam-se resultados de pesquisa nos microdados do Censo da Educação Superior de 2015, 2019 e 2022, comparando as ICES com as instituições PCFL e as públicas. Embora a análise tenha limites decorrentes das informações disponíveis, foi possível encontrar o mimetismo referido, com destaque para os indicadores sobre a queda das matrículas presenciais e a aposta no ensino a distância, bem como a participação significativa de professores horistas na composição do corpo docente. No entanto, verificou-se também a presença do chamado isomorfismo coercitivo, quando as instituições se adequam de maneira parecida aos processos de avaliação e regulação do Estado, observado principalmente nos indicadores sobre a titulação e o regime de trabalho parcial e integral do corpo docente.