RESUMEN
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.
Asunto(s)
Extremidad Inferior , Imagen por Resonancia Magnética , Músculo Esquelético , Humanos , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Extremidad Inferior/diagnóstico por imagen , Masculino , Reproducibilidad de los Resultados , Adulto , Femenino , Variaciones Dependientes del Observador , Persona de Mediana EdadRESUMEN
PURPOSE: We assessed the current clinical imaging practice in the primary evaluation of neuromuscular disorders (NMD), with respect to standardized imaging, evaluation and reporting through a European and extra-European-wide survey. METHODS: An online questionnaire was emailed to all European Society of Neuroradiology (ESNR) members (n = 1662) who had expressed their interest in NMD. The questionnaire featured 40 individual items. Information was gathered on the context of the practices, available and preferred imaging modalities, applied imaging protocols and standards for interpretation, reporting and communication. RESULTS: A total of 30 unique entries from European and extra-European academic and non-academic institutions were received. Of these, 70% were neuroradiologists, 23% general radiologists and 7% musculoskeletal radiologists. Of the 30 responding institutes, 40% performed from 20 to 50 neuromuscular scans per year for suspected NMD. The principal modality used for a suspected myopathy was magnetic resonance imaging (MRI) (50%) or "mainly MRI" (47%). The primary imaging modality used for the evaluation of patients suspected of a neuropathy was MRI in 63% of all institutions and "mainly MRI" in 37%. For both muscle and nerve pathology, pelvic girdle and inferior limbs are the most scanned parts of the body (28%), followed by the thigh and leg (24%), whole body MR (24%), scapular girdle (16%), and the thigh in just 8% of institutions. Multiplanar acquisitions were performed in 50% of institutions. Convectional sequences used for muscle MRI included T2-STIR (88%), 2D T1weighted (w) (68%), T1 Dixon or equivalent (52%), T2 Dixon (40%), DWI (36%), 2D T2w (28%), T1 3D and T2 3D (20% respectively). For nerve MRI conventional sequences included T2-STIR (80%), DWI (56%), T2 3D (48%), 2D T2w (48%), T1 3D (44%), T1 Dixon or equivalent (44%), 2D T1 (36%), T2 Dixon (28%). Quantitative sequences were used regularly by 40% respondents. While only 28% of institutions utilized structured reports, a notable 88% of respondents expressed a desire for a standardized consensus structured report. Most of the respondents (93%) would be interested in a common MRI neuromuscular protocol and would like to be trained (87%) by the ESNR society with specific neuromuscular sessions in European annual meetings. CONCLUSIONS: Based on the survey findings, we can conclude that the current approach to neuromuscular imaging varies considerably among European and extra-European countries, both in terms of image acquisition and post-processing. Some of the challenges identified include the translation of research achievements (related to advanced imaging) into practical applications in a clinical setting, implementation of quantitative imaging post-processing techniques, adoption of structured reporting methods, and communication with referring physicians.
Asunto(s)
Imagen por Resonancia Magnética , Humanos , Imagen por Resonancia Magnética/métodos , Encuestas y Cuestionarios , Europa (Continente)RESUMEN
The World Health Organization (WHO) recognizes schistosomiasis as one of the Neglected Tropical Diseases targeted for global elimination in the 2030 Agenda of the Sustainable Development Goals. In Brazil, schistosomiasis mansoni is considered a public health problem, particularly prevalent among vulnerable populations living in areas with poor environmental and sanitary conditions. In 2022, the WHO published a Guideline encompassing recommendations to assist national programs in endemic countries in achieving morbidity control, eliminating schistosomiasis as a public health problem, and advancing towards interrupting transmission. The perspectives presented here, collectively prepared by members of the Oswaldo Cruz Foundation's (Fiocruz) Schistosomiasis Translational Program (FioSchisto), along with invited experts, examine the feasibility of the WHO recommendations for the Brazilian settings, providing appropriate recommendations for public health policies applicable to the epidemiological reality of Brazil, and suggests future research to address relevant issues. In Brazil, the provision of safe water and sanitation should be the key action to achieve schistosomiasis elimination goals. The agencies involved in measures implementation should act together with the Primary Care teams for planning, executing, monitoring, and evaluating actions in priority municipalities based on their epidemiological indicators. Host snails control should prioritize judicious ecological interventions at breeding sites. The Information, Education, and Communication (IEC) strategy should be associated with water and sanitation and other control actions, actively involving school community. To identify infected carriers, FioSchisto recommends a two-stage approach of immunological and molecular tests to verify transmission interruption during the intervention and beyond. Praziquantel administration should be done under medical supervision at the Primary Care level. MDA should be considered in exceptional settings, as a measure of initial attack strategy in locations presenting high endemicity, always integrated with water and sanitation, IEC, and snail control. To assist decision-making, as well as the monitoring and evaluation of strategic actions, there is a need for an Information System. FioSchisto considers this systematization essential to make investments in strategic research to support the improvement of schistosomiasis control actions. Efforts toward schistosomiasis elimination in Brazil will succeed with a paradigm shift from the vertical prescriptive framework to a community-centered approach involving intersectoral and interdisciplinary collaboration.
Asunto(s)
Esquistosomiasis , Humanos , Brasil/epidemiología , Esquistosomiasis/epidemiología , Esquistosomiasis/prevención & control , Praziquantel , Organización Mundial de la Salud , AguaRESUMEN
[This corrects the article DOI: 10.3389/fmicb.2022.1048457.].
RESUMEN
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.
Asunto(s)
Educación en Salud , Esquistosomiasis , Humanos , Instituciones Académicas , Estudiantes , Docentes , Esquistosomiasis/epidemiología , Esquistosomiasis/prevención & controlRESUMEN
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.
Asunto(s)
Distrofia Muscular de Duchenne , Antebrazo , Humanos , Imagen por Resonancia Magnética/métodos , Músculo Esquelético , Distrofia Muscular de Duchenne/complicaciones , Distrofia Muscular de Duchenne/diagnóstico por imagen , Extremidad Superior/diagnóstico por imagenRESUMEN
Background: Schistosomiasis is a parasitic disease associated with poverty. It is estimated that 7.1 million people are infected with Schistosoma mansoni in Latin America, with 95% of them living in Brazil. Accurate diagnosis and timely treatment are important measures to control and eliminate schistosomiasis, but diagnostic improvements are needed to detect infections, especially in areas of low endemicity. Methodology: This research aimed to evaluate the performance of 11 diagnostic tests using latent class analysis (LCA). A cross-sectional survey was undertaken in a low endemicity area of the municipality of Malacacheta, Minas Gerais, Brazil. Feces, urine, and blood samples were collected from 400 residents older than 6 years of age, who had not been treated with praziquantel in the 12 months previous to the collection of their samples. The collected samples were examined using parasitological (Helm Test® kit Kato-Katz), nucleic acid amplification tests -NAATs (PCR, qPCR and LAMP on urine; PCR-ELISA, qPCR and LAMP on stool), and immunological (POC-CCA, the commercial anti-Schistosoma mansoni IgG ELISA kit from Euroimmun, and two in-house ELISA assays using either the recombinant antigen PPE or the synthetic peptide Smp150390.1) tests. Results: The positivity rate of the 11 tests evaluated ranged from 5% (qPCR on urine) to 40.8% (commercial ELISA kit). The estimated prevalence of schistosomiasis was 12% (95% CI: 9-15%) according to the LCA. Among all tests assessed, the commercial ELISA kit had the highest estimated sensitivity (100%), while the Kato-Katz had the highest estimated specificity (99%). Based on the accuracy measures observed, we proposed three 2-step diagnostic approaches for the active search of infected people in endemic settings. The approaches proposed consist of combinations of commercial ELISA kit and NAATs tests performed on stool. All the approaches had higher sensitivity and specificity than the mean values observed for the 11 tests (70.4 and 89.5%, respectively). Conclusion: We showed that it is possible to achieve high specificity and sensitivity rates with lower costs by combining serological and NAATs tests, which would assist in the decision-making process for appropriate allocation of public funding aiming to achieve the WHO target of eliminating schistosomiasis as a public health problem by 2030.
RESUMEN
BACKGROUND: The 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. METHODS: We 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. RESULTS: The 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]. CONCLUSIONS: We 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.
Asunto(s)
Distrofia Muscular Facioescapulohumeral , Biomarcadores , Humanos , Aprendizaje Automático , Imagen por Resonancia Magnética/métodos , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Distrofia Muscular Facioescapulohumeral/diagnóstico por imagen , Distrofia Muscular Facioescapulohumeral/genética , Estudios RetrospectivosRESUMEN
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.
Asunto(s)
Distrofia Muscular de Duchenne , Adolescente , Adulto , Niño , Preescolar , Antebrazo/diagnóstico por imagen , Humanos , Imagen por Resonancia Magnética , Músculo Esquelético/diagnóstico por imagen , Músculos , Distrofia Muscular de Duchenne/diagnóstico por imagen , Extremidad Superior/diagnóstico por imagen , Adulto JovenRESUMEN
INTRODUCTION: Brazilian guidelines for schistosomiasis elimination recommend regular search of infection carriers and their timely treatment. This study evaluates the effect of educational actions (EAs) among schoolchildren on adherence to diagnosis and treatment, as well as on knowledge of the disease. METHODS: In April/2013, a questionnaire was applied to 6th-to-8th-grade pupils of eight public schools to evaluate prior knowledge of disease and self-reported risk behavior. Baseline parasitological survey (PS) was done in May/2013, followed by selective treatment and cure assessment. The schools were then randomly allocated to experimental (EG) and control (CG) groups, with and without EAs, respectively. EAs were conducted for 3 months from August/2013. Questionnaire was reapplied in November/2013, April/2014, October/2014, and October/2015 to evaluate changes in knowledge about the disease and self-reported risk behavior. Two further annual PSs (May/2014 and May/2015), each followed by treatment of positives, allowed to evaluate between-group differences and intra-group changes in adherence to diagnosis and treatment, and to follow-up prevalence and intensity of infection. RESULTS: Adherence to diagnosis did not differ significantly between EG (84.1%) and CG (81.1%) at baseline but was significantly higher in EG in subsequent PSs. Overall, adherence to treatment was higher than 90% in all three PSs; cure was 98.4%, egg-reduction was 99.8% and reinfection, 2.8%. Prevalence fell significantly in EC (from 23.5% to 6.8%) and CG (from 21.8% to 2.4%), the same occurring with intensity (from 54.2 to 4.6 epg in EG and from 38.4 to 1.3 epg in CG). Disease knowledge increased significantly in EG and CG; knowledge about disease transmission increased significantly more in the EG. Self-reported risk behavior remained above 67% and did not differ significantly between EG and CG. CONCLUSION: EAs increased adherence of schoolchildren and improved knowledge about the disease, confirming that EAs are an important tool to enhance schoolchildren participation in control campaigns.
RESUMEN
O trabalho dos educadores pode ser enriquecido com o uso de recursos pedagógicos importantes no processo de ensino e aprendizagem. Considerando este aspecto, uma animação baseada no livro O feitiço da lagoa, de Virginia Schall, que trata do tema esquistossomose foi construída para estimular o conhecimento sobre a doença entre escolares e exibida para alunos do ensino básico em quatro municípios endêmicos: Jaboticatubas, Malacacheta e Santa Luzia, em Minas Gerais; e João Pessoa, na Paraíba. Após sua exibição, um questionário foi aplicado com a finalidade de verificar a aceitação e o entendimento do material. De acordo com as respostas, o desenho animado apresentou boa aceitação. Todos identificaram a esquistossomose como a doença retratada e o caramujo como o transmissor do esquistossomo. Os resultados apontaram que o desenho pode ser um importante recurso pedagógico no processo educativo, auxiliando os programas de controle da endemia, especialmente quando desenvolvidos no espaço escolar.
The educators' work can be enriched with the use of pedagogical resources which are important in the teaching and learning process. With this aspect in mind, a cartoon with the theme schistosomiasis was created, so as to promote knowledge about the disease among middle school students, and exhibited in four endemic municipalities - Jaboticatubas, Malacacheta and Santa Luzia in the state of Minas Gerais; and João Pessoa in the state of Paraíba. The animation was based on the book O feitiço da lagoa by Virginia Schall and it was shown to students in those four towns. A questionnaire was answered by them after the respective exhibitions in order to verify the acceptance and understanding of the material that was shown. According to the responses, the cartoon presented good acceptance. Everyone identified schistosomiasis as the disease displayed, and the snail that transmits the schistosome. The results showed that the cartoon can be an important pedagogical resource in the educational process, helping endemic control programs, especially when these programs are developed in the school environment.
El trabajo de los educadores puede ser enriquecido con el uso de recursos pedagógicos importantes en el proceso de enseñanza y aprendizaje. Considerando este aspecto, un dibujo animado sobre el tema esquistosomiasis fue realizado para estimular el conocimiento, entre estudiantes del ciclo básico, acerca de la enfermedad y exhibido en cuatro municipios endémicos: Jaboticatubas, Malacacheta y Santa Luzia en Minas Gerais; y João Pessoa en Paraíba. La animación fue basada en el libro O feitiço da lagoa de Virginia Schall y fue mostrada a alumnos en las cuatro localidades. Un cuestionario fue aplicado, después de cada proyección, con la finalidad de verificar la aceptación y el entendimiento del material exhibido. De acuerdo con las respuestas, el dibujo tuvo buena aceptación. Todos identificaron la esquistosomiasis como la enfermedad retratada y el caracol como el transmisor del esquistosoma. Los resultados indicaran que el dibujo animado puede ser un importante recurso pedagógico en el proceso educativo, auxiliando a los programas de control de la endemia, especialmente cuando desarrollados en el espacio escolar.
Asunto(s)
Humanos , Esquistosomiasis , Educación en Salud , Educación Primaria y Secundaria , Materiales Educativos y de Divulgación , Comunicación en Salud , Brasil , Encuestas y Cuestionarios , DibujoRESUMEN
The partial trisomy 13q encompasses an extensive variability of phenotypic and radiological findings including leukoencephalopathy and brain malformations such as holoprosencephaly, callosal dysgenesis, hippocampal hypoplasia, olfactory hypoplasia, and vermian hypoplasia. We report for the first time a case of a 23-year-old patient affected by de novo partial 13q22.1q34 trisomy (41.7 Mb, 72,365,975-114,077,122x3) presenting with hemiparesis related to both ischemic and haemorrhagic cerebral lesions compatible with cerebral vasculitis due to a possible combination of genetic and immunological interaction.
RESUMEN
Hidradenitis suppurativa (HS) is a chronic, inflammatory, disease of the hair follicle. Intralesional corticosteroid treatment in HS patients has been reported, and while several data described this route of administration as an efficient delivery system, its efficacy is still debated. The aim of this study was to explore the clinical efficacy and the effect on quality of life (QoL) of an innovative intralesional treatment in HS patients. This was an interventional prospective study. The treatment consisted of two intralesional ultrasound-guided injections of triamcinolone plus lincomycin, at baseline and after 2 weeks. Lesions and QoL were evaluated at baseline and at 4 weeks following intralesional therapy. All clinical variables of 36 HS patients significantly improved after 4 weeks. Mean values of the visual analog scale (VAS) pain decreased from 4.6 to 1.5, P = .027. The Bodily Pain (BP) scale of the Short-Form Health Survey (SF-36) significantly improved from 36.2 at baseline to 53.9 at 4-week follow-up (P < .001). On a scale from 0 to 10, over 90% of the patients gave a satisfaction score of 8 or more. This combination of corticosteroids and antibiotics delivered intralesionally seems to be effective, as it improved both patient- and physician-reported outcomes.
Asunto(s)
Hidradenitis Supurativa , Calidad de Vida , Hidradenitis Supurativa/diagnóstico por imagen , Hidradenitis Supurativa/tratamiento farmacológico , Humanos , Lincomicina , Proyectos Piloto , Estudios Prospectivos , Triamcinolona , Ultrasonografía IntervencionalRESUMEN
We present extensive clinical, serological, morphological and muscle imaging data of a 66-year-old man with isolated bilateral ptosis and external ophthalmoplegia secondary to Immune checkpoint inhibitors (Pembrolizumab). He had elevated CK level (>5000 UI/L). No facial, bulbar, proximal, distal or axial muscular weakness was observed. Electromyography (EMG) showed myopathic pattern, with spontaneous activity. Myositis specific antibodies and anti-striational antibodies were negative. Cardiac and respiratory functions were preserved. Skeletal muscle MRI was unremarkable, whereas extraocular muscles revealed bilateral hyperintensities in inferior rectus, medial rectus and superior oblique muscles in both T1 and STIR sequences, with mild muscle atrophy. Muscle biopsy showed endomysial inflammatory infiltrates, MHC-1 expression was observed in clusters of non-necrotic cells. CD56 positive cells were observed in perifascicular regions. Patient discontinued Pembrolizumab and received corticosteroid treatment with progressive clinical improvement and CK normalization. Our findings support this clinical entity, suggesting that isolated ocular myositis represents a subgroup of generalised myositis with predominant ocular symptoms.
Asunto(s)
Antineoplásicos Inmunológicos/efectos adversos , Inhibidores de Puntos de Control Inmunológico/administración & dosificación , Neoplasias Renales/tratamiento farmacológico , Miositis/inducido químicamente , Miositis/diagnóstico , Músculos Oculomotores , Anciano , Anticuerpos Monoclonales Humanizados/efectos adversos , Blefaroptosis/inducido químicamente , Blefaroptosis/etiología , Humanos , Masculino , Miositis/complicaciones , Oftalmoplejía/inducido químicamente , Oftalmoplejía/etiologíaRESUMEN
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.
Asunto(s)
Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Atrofia Muscular Espinal/diagnóstico por imagen , Atrofia Muscular Espinal/patología , Adiposidad/fisiología , Adolescente , Adulto , Atrofia/patología , Niño , Preescolar , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Músculo Esquelético/metabolismo , Atrofia Muscular Espinal/metabolismo , Estudios Prospectivos , Atrofias Musculares Espinales de la Infancia/diagnóstico por imagen , Atrofias Musculares Espinales de la Infancia/metabolismo , Atrofias Musculares Espinales de la Infancia/patología , Adulto JovenRESUMEN
OBJECTIVE: To assess whether structured reports (SRs) of MRI in patients with inherited neuromuscular disorders (IND) provide more clinically relevant information than non-structured reports (NSRs) and whether neuroradiologists' expertise affects completeness of reports. MATERIAL AND METHODS: Lower limbs' MRI reports of patients with IND produced by neuroradiologists with different level of expertise (> 15 years vs. < 15 years of experience in reading IND-MRI) before and after implementation of a SR template were included. Reports were assessed for the presence of 9 key features relevant for IND management. Reports and images were evaluated by neurologists who assessed: disease-specific muscular involvement pattern; presence of sufficient information to order the appropriate genetic/diagnostic tests; presence of sufficient information to make therapeutic decision/perform biopsy and necessity to review MRI images. Mann-Whitney and Fisher's exact tests were used to compare the number of key features for NSR and SR and neurologists' answers for reports produced by neuroradiologists with different experience. RESULTS: Thirty-one SRs and 101 NSRs were reviewed. A median of 8 and 6 key features was present in SR and NSR, respectively (p value < 0.0001). When reports were produced by less expert neuroradiologists, neurologists recognized muscular involvement pattern, had sufficient information for clinical decision-making/perform biopsy more often with SR than NSR (p values: < 0.0001), and needed to evaluate images less often with SR (p value: 0.0001). When reports produced by expert neuroradiologists were evaluated, no significant difference in neurologists' answers was observed. CONCLUSION: SR of IND-MRI contained more often clinically relevant information considered important for disease management than NSR. Radiologist's expertise affects completeness of NSR reports.
Asunto(s)
Extremidad Inferior , Imagen por Resonancia Magnética/métodos , Registros Médicos/normas , Enfermedades Neuromusculares/diagnóstico por imagen , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
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.
Asunto(s)
Imagen por Resonancia Magnética , Músculos/fisiopatología , Distrofia Muscular de Duchenne/fisiopatología , Extremidad Superior/fisiopatología , Adolescente , Adulto , Niño , Preescolar , HumanosRESUMEN
OBJECTIVE: The aim of our study was to determine inter-observer agreement in the ultrasonographic identification of the anterolateral ligament (ALL) and in the evaluation of its length and thickness in healthy subjects. METHODS: 80 healthy volunteers (160 knees) (42 males and 38 females) were enrolled in the study. All subjects underwent ultrasound (US) examination of both knees, performed by two physicians with over ten years of musculoskeletal US experience. In order to keep the ALL under optimal tension, the knee was flexed at approximately 30-35°, slightly internally rotated and length and thickness of the ligament were measured. RESULTS: ALL was identified in 93.8% (150 out of 160) and in 92.5% (148 out of 160) of the knees by Evaluator 1 and Evaluator 2, respectively. Interobserver agreement was substantial to almost perfect for the visualization of the ALL ( =0.90) and for measurements of its length (ICC = 0.83), and strong for measurements of its thickness (ICC = 0.75). CONCLUSION: In our study on healthy subjects, ALL has been visualized with a high rate of reproducibility. Further studies are needed to see if US may be a reliable and reproducible diagnostic tool in patients with traumatic or degenerative knee disorders. LEVEL OF EVIDENCE: II, evidence obtained from cohort study.
RESUMEN
OBJECTIVE: to characterize printed educational materials about schistosomiasis produced at federal, state and municipal levels in Brazil. METHODS: the educational materials were characterized considering the following categories: 'format', 'parasite and intermediate host', 'definitive host (ill)' and 'disease'. RESULTS: 60 materials were assessed, three had no information about risk activities and 41 indicated more than one popular name for the disease, thus allowing greater reach among the target audience in diverse endemic areas; the biological cycle was missing or incorrect in 53 materials; the intermediate host (snail) was incorrectly illustrated, with use of stereotyped images in 39 and no image in one material; diagnosis was mentioned in 36 materials. CONCLUSION: the printed educational materials assessed had incorrect content which may compromise health education efforts; little attention was paid to schistosomiasis diagnosis.