Cross-cultural Validation of the Health Mindset Scale for Brazil.

Objective To cross-culturally validate the Health Mindset Scale for Brazil, as well as adapt the terms and questionnaires for adequate understanding of Brazilians, using factor analysis as an instrument to validate its reliability. Methods Cross-cultural validation of the Health Mindset Scale into Brazilian Portuguese using the Beaton method, Cronbach's alpha calculation and factor analysis Results The sample consisted of 215 patients aged between 18 and 87 years (M = 41.98; SD = 15.72), with a mean age between 31 and 50 years (42.0%), and female (52 .6%), a marginally significant difference (p < 0.10) between men and women was observed for item 3. In this item, men's mean (M = 5.48; SD = 0.99) was higher than the average for women (M = 5.10; SD = 1.22), with a small effect size for the difference (d = 0.26). Pearson's r correlation coefficient was examined between the mean score and age (r = -0.21; p = 0.002), the result of which indicated a weak, negative and significant linear relationship. The older the age, the lower the average score on the Health Mindset Scale. Conclusion The version of the health-focused mindset scale for Brazilian Portuguese was introduced and cross-culturally validated, demonstrating good reliability with a Cronbach's alpha of 0.786. Consequently, it constitutes a new instrument for clinical practice and can be correlated with established scales in the literature.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy.

Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.

Atrofia muscular espinhal ligada ao cromossomo 5 (AME-5q) é uma doença genética de herança autossômica recessiva causada por mutações no gene SMN1. A AME-5q cursa com degeneração progressiva dos motoneurônios medulares e bulbares, acarretando grave comprometimento motor e respiratório com redução da sobrevida, especialmente nas suas formas clínicas mais graves. Nos últimos anos, terapias modificadoras da doença altamente eficazes, ou que atuam regulando o splicing do exon 7 do gene SMN2 ou adicionando uma cópia do gene SMN1 via terapia gênica, têm surgido, proporcionando uma mudança drástica na história natural da doença. Dessa forma, o desenvolvimento de guias terapêuticos e de consensos de especialistas torna-se importante no sentido de direcionar o uso dessas terapias na prática clínica. Este consenso, preparado por especialistas brasileiros, teve como objetivos revisar as principais terapias modificadoras de doença disponíveis, analisar criticamente os resultados dos estudos clínicos dessas terapias e prover recomendações para seu uso na prática clínica para pacientes com AME-5q. Aspectos relativos ao diagnóstico, aconselhamento genético e seguimento dos pacientes em uso das terapias também são abordados nesse consenso. Assim, esse consenso promove valiosas informações a respeito do manejo atual da AME-5q auxiliando decisões terapêuticas na prática clínica e promovendo ganhos adicionais nos desfechos finais.

Consensus from the Brazilian Academy of Neurology for the diagnosis, genetic counseling, and use of disease-modifying therapies in 5q spinal muscular atrophy / Consenso da Academia Brasileira de Neurologia para diagnóstico, aconselhamento genético e uso de terapias modificadoras na atrofia muscular espinhal 5q

Abstract Spinal muscular atrophy linked to chromosome 5 (SMA-5q) is an autosomal recessive genetic disease caused by mutations in the SMN1. SMA-5q is characterized by progressive degeneration of the spinal cord and bulbar motor neurons, causing severe motor and respiratory impairment with reduced survival, especially in its more severe clinical forms. In recent years, highly effective disease-modifying therapies have emerged, either acting by regulating the splicing of exon 7 of the SMN2 gene or adding a copy of the SMN1 gene through gene therapy, providing a drastic change in the natural history of the disease. In this way, developing therapeutic guides and expert consensus becomes essential to direct the use of these therapies in clinical practice. This consensus, prepared by Brazilian experts, aimed to review the main available disease-modifying therapies, critically analyze the results of clinical studies, and provide recommendations for their use in clinical practice for patients with SMA-5q. This consensus also addresses aspects related to diagnosis, genetic counseling, and follow-up of patients under drug treatment. Thus, this consensus provides valuable information regarding the current management of SMA-5q, helping therapeutic decisions in clinical practice and promoting additional gains in outcomes.

Resumo Atrofia muscular espinhal ligada ao cromossomo 5 (AME-5q) é uma doença genética de herança autossômica recessiva causada por mutações no gene SMN1. A AME-5q cursa com degeneração progressiva dos motoneurônios medulares e bulbares, acarretando grave comprometimento motor e respiratório com redução da sobrevida, especialmente nas suas formas clínicas mais graves. Nos últimos anos, terapias modificadoras da doença altamente eficazes, ou que atuam regulando o splicing do exon 7 do gene SMN2 ou adicionando uma cópia do gene SMN1 via terapia gênica, têm surgido, proporcionando uma mudança drástica na história natural da doença. Dessa forma, o desenvolvimento de guias terapêuticos e de consensos de especialistas torna-se importante no sentido de direcionar o uso dessas terapias na prática clínica. Este consenso, preparado por especialistas brasileiros, teve como objetivos revisar as principais terapias modificadoras de doença disponíveis, analisar criticamente os resultados dos estudos clínicos dessas terapias e prover recomendações para seu uso na prática clínica para pacientes com AME-5q. Aspectos relativos ao diagnóstico, aconselhamento genético e seguimento dos pacientes em uso das terapias também são abordados nesse consenso. Assim, esse consenso promove valiosas informações a respeito do manejo atual da AME-5q auxiliando decisões terapêuticas na prática clínica e promovendo ganhos adicionais nos desfechos finais.

CORRELATION BETWEEN TYPES OF MINDSET AND QUALITY OF LIFE EVALUATION IN PATIENTS WITH SCOLIOSIS.

Scoliosis is a pathology with multiple etiologies that leads to aesthetic changes, increased morbidity and, especially, psychological damage. Objective: This work aims to compare two mindset types (fixed and growth) and assess levels of quality of life in individuals with scoliosis. Methods: Two questionnaires, Scoliosis Research Society-30 (SRS-30) and Early-Onset Scoliosis-24 Questionnaire (EOSQ-24), associated with the "Health Mindset Scale," were used. We applied the SRS-30 to patients who were independent or whose diagnosis of spinal deformity occurred after the age of 10 years. For patients diagnosed before the age of 10 or who presented dependence due to cognitive impairment, caregivers were subjected to the "Health Mindset Scale" and EOSQ-24 questionnaires. Results: The sample consisted of 35 patients aged from 4 to 46 years, the majority aged from 15 to 18 years old (42.9%), female (71.4%), and with neuromuscular scoliosis (28.6%). The only significant result (p = 0.060) was the increase in pain/discomfort scores in the EOSQ-24 for a patient with a growth mindset. Lastly, there was no statistical difference between groups, however, in patients with a growth mindset, there was a tendency (p = 0.060) to have a higher pain/discomfort score, assessed via the EOSQ-24 score, reported by the caregiver. Level of Evidence III, Retrospective Comparative Study.

A escoliose é uma patologia com múltiplas etiologias e que acarreta alterações estéticas, aumento de morbidade e principalmente danos psicológicos. Objetivo: Comparar dois tipos de mindset (fixo e construtivo) e o nível de qualidade de vida. Métodos: Foram utilizados dois questionários, o Scoliosis Research Society-30 (SRS-30) e o Early-Onset Scoliosis-24 Questionnaire (EOSQ-24), associados à escala Health Mindset Scale. Aplicamos o SRS-30 em pacientes independentes ou cujo diagnóstico de deformidade na coluna ocorreu após os 10 anos. Já no caso de pacientes com diagnóstico antes dos 10 anos ou que apresentassem dependência devido a dificuldades cognitivas, os cuidadores foram submetidos à Health Mindset Scale e ao EOSQ-24. Resultados: A amostra foi composta por 35 pacientes com idades entre 4 e 46 anos, sendo a maioria entre 15 e 18 anos (42,9%), do sexo feminino (71,4%) e com escoliose do tipo neuromuscular (28,6%). O único resultado com significância (p = 0,060) foi o aumento dos escores de dor/desconforto nos questionários EOSQ-24 em paciente com mindset de crescimento. Por fim, não houve diferença estatisticamente significante entre os grupos, porém, em pacientes com mindset construtivo, houve tendência (p = 0,060) de maior escore de dor/desconforto avaliado por meio do EOSQ-24 e referido pelo cuidador. Nível de Evidência III, Estudo Retrospectivo Comparativo.

Development and Validation of the 17-Point Brazilian Portuguese Translated Version of the Modified Japanese Orthopedic Association Score (mJOA-BR17).

BACKGROUND: Cervical spondylotic myelopathy (CSM) is the most common degenerative dysfunction of the spinal cord in the cervical spine in patients older than 55 years. The Japanese Orthopedic Association developed a scoring system to quantify clinical impairment of CSM patients, allocate them according to the degree of impairment, and suggest best timing for surgery. The original version evaluates the upper limb motor function through the ability of feeding with chopsticks, which are not intrinsic in western populations. To compare severity and treatment improvement of any diseases, it is preferable to have modified and translated versions of questionnaires and scores closest to the original ones. The authors present a prospective cohort study to validate the 17-point Brazilian Portuguese translated version of the modified Japanese Orthopedic Association (mJOA-BR17) survey. METHODS: Patients with CSM (n = 36) were allocated to the disease group, while age- and sex-matched healthy volunteers (n = 34) were recruited for the control group. Comparison of statistical analysis of mJOA-BR17 domains for each group was established. After the translation and adaptation of mJOA-BR17, the validation was made through application to the 2 groups. RESULTS: There were statistical differences between groups in total mJOA-BR17 score (CSM, 14.14 ± 2.92; control, 16.68 ± 0.59: P < 0.001), lower limbs motor function (CSM, 3.25 ± 1.02; control, 3.91 ± 0.29: P < 0.001), upper limbs sensory function (CSM, 1.17 ± 0.81; control, 1.86 ± 0.36: P < 0.001), lower limbs sensory function (CSM, 1.62 ± 0.64; control, 2.0 ± 0.0: P < 0.001), and bladder function (CSM, 2.69 ± 0.52; control, 2.97 ± 0.17: P = 0.005). The receiver operating characteristic curve was 0.81, indicating usefulness of the mJOA-BR17 score to identify patients with CSM from healthy controls. CONCLUSIONS: The mJOA-BR17 demonstrated similarity, applicability, and good understanding in comparison to the English-modified version of 17-point JOA score for CSM, becoming a valuable tool to quantify and differentiate CSM patients from healthy individuals.

Health-Related Predictive Factors of Brazilian Children With Early Onset Scoliosis Using the EOSQ-24 and CHQ-PF50 Questionnaires.

BACKGROUND: Assessing the quality of life (QOL) of children with early onset scoliosis (EOS) has been discussed recently. Therefore, the study aimed to apply and correlate the 24-item Early Onset Scoliosis Questionnaire (EOSQ-24) with the 50-item Childhood Health Questionnaire (CHQ-PF50) to find predictive factors impacting QOL. METHODS: Cross-sectional study involving a population of caregivers of patients with EOS. The sample consisted of 72 patients. Two research assistants applied the Portuguese version of the EOSQ-24 and CHQ-PF50 in 3 treatment centers. The EOSQ-24 assesses the subjective response of children with EOS from the parent's point of view. The CHQ is a self-administered questionnaire or parental proxy assessment of the psychological and social status of children aged 5 to 18 years. RESULTS: Of 72 patients, 41 (56.9%) were females, mean age of 11.9 ± 4.2 years. The most common scoliosis was of neuromuscular origin (32%). The CHQ-PF50 showed that family-related items had significant scores. The most affected subcategory was physical function (45.5), and the least affected was mental health (90.8). Thus, the CHQ-PF50 PhS summary index was 27, and the CHQ-PF50 PsS was 71.7. Moreover, the critical categories for the EOSQ-24 questionnaire were daily life and physical function (45.1 and 47.8, respectively), and the least affected categories were transfer and pulmonary function (70.8 and 68.9, respectively). Four subcategories showed a strong correlation between both questionnaires: general health (r = 0.749, P < 0.001), physical function (r = 0.645, P < 0.001), bodily pain (r = 0.714, P < 0.001), and mental health (r = 0.424, P < 0.001). Using CHQ-PF50 as a dependent variable in multiple regression analysis (P = 0.028), the only variable affecting the scores was syndromic scoliosis (P = 0.019; 95% CI -27.4 to -2.5). CONCLUSION: A strong correlation between both questionnaires was seen for general health, physical function, bodily pain, and mental health. Syndromic scoliosis was a predictor of worse QOL according to the CHQ-PF50.

Muscle Ultrasound Changes Correlate With Functional Impairment in Spinal Muscular Atrophy.

OBJECTIVE: We investigated ultrasound patterns of muscle involvement in different types of spinal muscular atrophy (SMA) and their correlation with functional status to determine the pattern of muscle compromise in patients with SMA and the potential role of ultrasound to evaluate disease progression. METHODS: We examined muscles (biceps brachii, rectus femoris, diaphragm, intercostals and thoracic multifidus) of 41 patients with SMA (types 1 to 4) and 46 healthy age- and sex-matched control individuals using B-mode ultrasound for gray-scale analysis (GSA), area (biceps brachii and rectus femoris) and diaphragm thickening ratio. Functional scales were applied to patients only. We analyzed ultrasound abnormalities in specific clinical subtypes and correlated findings with functional status. RESULTS: Compared with controls, patients had reduced muscle area and increased mean GSA for all muscles (p < 0.001), with an established correlation between the increase in GSA and the severity of SMA for biceps brachii, rectus femoris and intercostals (p = 0.03, 0.01 and 0.004 respectively) when using the Hammersmith Functional Motor Scale Expanded. Diaphragm thickening ratio was normal in the majority of patients, and intercostal muscles had higher GSA than diaphragm in relation to the controls. CONCLUSION: Ultrasound is useful for quantifying muscular changes in SMA and correlates with functional status. Diaphragm thickening ratio can be normal even with severe compromise of respiratory muscles in quantitative analysis, and intercostal muscles were more affected than diaphragm.

Molecular survey of hemotropic mycoplasmas in crab-eating raccoons (Procyon cancrivorus) in southern Brazil.

Hemoplasmas are non-cultivable bacterial parasites of erythrocytes that infect domestic and wild animals, as well as humans. Their means of transmission and pathogenesis remain contentious issues and difficult to evaluate in wild animals. Procyon cancrivorus is a South American carnivore and occurs in all Brazilian biomes. In this study, we aimed to investigate occurrences of hemoplasmas infecting P. cancrivorus and to identify their 16S rRNA gene, in southern Brazil. DNA was extracted from spleen and blood samples of P. cancrivorus (n = 9) from different locations. Hemoplasma DNA was detected in six samples, based on 16S rRNA gene amplification and phylogenetic analysis. Four of the six sequences belonged to the "Mycoplasma haemofelis group", which is closely related to genotypes detected in Procyon lotor from the USA; one was within the "Mycoplasma suis group", closely related to "Candidatus Mycoplasma haemominutum"; and one was within the intermediate group between these clusters. Thus, these sequences showed that the molecular identity of hemoplasmas in the population studied was very variable. In five positive animals, Amblyomma aureolatum ticks and a flea (Ctenocephalides felis felis) were collected. The present study describes the first molecular detection of mycoplasmas in P. cancrivorus.

Correlation between types of mindset and quality of life evaluation in patients with scoliosis / Correlação entre os tipos de mentalidade e avaliação da qualidade de vida em pacientes com escoliose

ABSTRACT Scoliosis is a pathology with multiple etiologies that leads to aesthetic changes, increased morbidity and, especially, psychological damage. Objective: This work aims to compare two mindset types (fixed and growth) and assess levels of quality of life in individuals with scoliosis. Methods: Two questionnaires, Scoliosis Research Society-30 (SRS-30) and Early-Onset Scoliosis-24 Questionnaire (EOSQ-24), associated with the "Health Mindset Scale," were used. We applied the SRS-30 to patients who were independent or whose diagnosis of spinal deformity occurred after the age of 10 years. For patients diagnosed before the age of 10 or who presented dependence due to cognitive impairment, caregivers were subjected to the "Health Mindset Scale" and EOSQ-24 questionnaires. Results: The sample consisted of 35 patients aged from 4 to 46 years, the majority aged from 15 to 18 years old (42.9%), female (71.4%), and with neuromuscular scoliosis (28.6%). The only significant result (p = 0.060) was the increase in pain/discomfort scores in the EOSQ-24 for a patient with a growth mindset. Lastly, there was no statistical difference between groups, however, in patients with a growth mindset, there was a tendency (p = 0.060) to have a higher pain/discomfort score, assessed via the EOSQ-24 score, reported by the caregiver. Level of Evidence III, Retrospective Comparative Study.

RESUMO A escoliose é uma patologia com múltiplas etiologias e que acarreta alterações estéticas, aumento de morbidade e principalmente danos psicológicos. Objetivo: Comparar dois tipos de mindset (fixo e construtivo) e o nível de qualidade de vida. Métodos: Foram utilizados dois questionários, o Scoliosis Research Society-30 (SRS-30) e o Early-Onset Scoliosis-24 Questionnaire (EOSQ-24), associados à escala Health Mindset Scale. Aplicamos o SRS-30 em pacientes independentes ou cujo diagnóstico de deformidade na coluna ocorreu após os 10 anos. Já no caso de pacientes com diagnóstico antes dos 10 anos ou que apresentassem dependência devido a dificuldades cognitivas, os cuidadores foram submetidos à Health Mindset Scale e ao EOSQ-24. Resultados: A amostra foi composta por 35 pacientes com idades entre 4 e 46 anos, sendo a maioria entre 15 e 18 anos (42,9%), do sexo feminino (71,4%) e com escoliose do tipo neuromuscular (28,6%). O único resultado com significância (p = 0,060) foi o aumento dos escores de dor/desconforto nos questionários EOSQ-24 em paciente com mindset de crescimento. Por fim, não houve diferença estatisticamente significante entre os grupos, porém, em pacientes com mindset construtivo, houve tendência (p = 0,060) de maior escore de dor/desconforto avaliado por meio do EOSQ-24 e referido pelo cuidador. Nível de Evidência III, Estudo Retrospectivo Comparativo.

Study on pediatric scoliosis patients at hospital santa casa de misericórdia in são paulo / Estudo sobre pacientes com escoliose pediátrica no hospital santa casa de misericórdia de são paulo / Estudio sobre pacientes pediátricos con escoliosis en el hospital santa casa de misericórdia de são paulo

ABSTRACT: Objective: To carry out registration of patients with scoliosis under 18 years old, followed in a quarternary hospital of high complexity, who need surgical treatment, aiming to identify the reasons for the delay in treatment. Methods: Data collection was carried out in person and by spontaneous demand at the spinal orthopedic specialty outpatient clinic in a tertiary hospital of high complexity from January 2021 to December 2022. The results were compiled in the networked database (Red Cap®). Result: 59 patients were evaluated, 45 female (77.9%) and 14 male (22.1%), with a mean age of 13.7 years. Etiology: 30 idiopathic (50.8%), eight syndromic (13.5%), 11 neuromuscular (18.6%), and ten congenital (16.9%). Of the total, 46 (77.9%) were awaiting surgery and 13 (22.1%) were undergoing conservative treatment. The main causes of treatment delay: unavailability of intraoperative neurophysiological monitoring (19 - 41.3%); unavailability of specific surgical material (16 - 34.8%); difficulty of referral to our institution (6 - 13.1%); loss to follow-up (3 - 6.5%) and limitation in casting making (2 - 4.3%). The mean time between diagnosis and the first consultation is 17.25 months (0 - 140). The average surgical wait until December/2022 was 38.4 months (1 - 156). Conclusion: There is a lack of assistance in the steps of monitoring and treatment in the public health system, from directing the patient with scoliosis to the specialized center to performing the surgical procedure, mainly due to limitations in the use of intraoperative neurophysiological monitoring and the unavailability of specific materials to perform highly complex surgeries. Therapeutic Studies - Investigating the Results of Treatment.

RESUMO: Objetivo: Descrever a epidemiologia de pacientes, menores de 18 anos, com escoliose que aguardam cirurgia em hospital quaternário de alta complexidade e observar os motivos que acarretam atrasos no tratamento. Métodos: Coleta de dados presencial e espontaneamente no ambulatório de ortopedia da coluna vertebral num hospital de alta complexidade, de janeiro de 2021 a dezembro de 2022. Os resultados foram compilados no banco de dados (Red Cap®). Resultados: Foram avaliados 59 pacientes, 45 mulheres (77,9%) e 14 homens (22,1%), com média etária de 13,7 anos. Etiologia: 30 idiopáticas (50,8%), 8 sindrômicas (13,5%), 11 neuromusculares (18,6%) e 10 congênitas (16,9%). Do total, 46 (77,9%) aguardam cirurgia e 13 (22,1%) estavam em tratamento conservador. As principais causas de atraso do tratamento cirúrgico foram: indisponibilidade de monitoração neurofisiológica intraoperatória (19 - 41,3%); indisponibilidade de implantes para escoliose (16 - 34,8%); dificuldade no referenciamento para instituição (6 - 13,1%); perda de seguimento (3 - 6,5%) e limitação na confecção de colete (2 - 4,3%). Tempo médio entre diagnóstico e primeiro atendimento de 17,25 meses (0 - 140). A média de espera cirúrgica até dezembro/2022 era 38,4 meses (1 - 156). Conclusão: Há carência assistencial nas etapas do acompanhamento e no tratamento no Sistema Único de Saúde, desde o direcionamento do paciente com escoliose ao centro especializado até a realização do procedimento cirúrgico, sobretudo devido à limitação na utilização de monitoração neurofisiológica intraoperatória e indisponibilidade de materiais específicos para realização de cirurgias de alta complexidade. Estudos terapêuticos - Investigação dos resultados do tratamento.

RESUMEN: Objetivo: Describir la epidemiología de los pacientes menores de 18 años con escoliosis en un hospital cuaternario de alta complejidad y observar los motivos que llevan a retrasos en el tratamiento. Métodos: Recolección de datos presencial y espontánea en el ambulatorio de ortopedia de columna, de enero 2021 a diciembre 2022. Los resultados fueron recopilados en la base de datos (Red Cap®). Resultado: Se evaluaron 59 pacientes, 45 mujeres (77,9%) y 14 hombres (22,1%), con una edad promedio de 13,7 años. Etiología: 30 idiopáticas (50,8%), 8 sindrómicas (13,5%), 11 neuromusculares (18,6%) y 10 congénitas (16,9%). Del total, 46 (77,9%) estaban pendientes de cirugía y 13 (22,1%) estaban en tratamiento conservador. Las principales causas de retraso en el tratamiento quirúrgico fueron: indisponibilidad de monitorización neurofisiológica intraoperatoria (19 - 41,3%); indisponibilidad de implantes para escoliosis (16 - 34,8%); dificultad para hacer referencia a la institución (6 - 13,1%); pérdida de seguimiento (3 - 6,5%) y limitación en la confección de un chaleco (2 - 4,3%). Tiempo promedio diagnóstico y primera atención de 17,25 meses (0 - 140). Espera quirúrgica promedio: hasta diciembre/2022 fue de 38,4 meses (1 - 156). Conclusión: Existe falta de asistencia en las etapas de seguimiento y tratamiento en el Sistema Único de Salud, desde la dirección del paciente con escoliosis al centro especializado hasta la realización del procedimiento quirúrgico, debido principalmente a la limitación en el uso de instrumentos neurofisiológicos intraoperatorios. Estudios terapéuticos - Investigación de los resultados del tratamiento.

Relato de caso: oclusão percutânea de septo interatrial multifenestrado guiada por ecocardiograma transesofágico tridimensional / Case report: percutaneous occlusion of multifenestrated interatrial septum guided by three-dimensional transesophageal echocardiography

INTRODUÇÃO E/OU FUNDAMENTOS: O fechamento percutâneo é o método terapêutico de escolha nas comunicações interatriais do tipo ostium secundum com anatomia favorável. A ecocardiografia transesofágica com mapeamento de fluxo em cores é usada para a avaliação anatômica e monitoramento durante todo o procedimento. O método permite a aferição do defeito em diferentes planos, medida do diâmetro estirado pela técnica do "stop-flow", o que auxilia na seleção do dispositivo; além de ser fundamental durante o processo de abertura do disco esquerdo, cintura e disco direito, checagem do posicionamento final da prótese e diagnóstico de possíveis complicações imediatas. A obtenção da imagem tridimensional (3D) em tempo real facilita a compreensão da localização dos defeitos e a relação dos mesmos com as estruturas adjacentes. RELATO DO CASO: Paciente masculino, 59 anos, sintomático (classe funcional II/III da NYHA), encaminhado ao serviço de cardiopatias congênitas para oclusão percutânea de defeito do septo interatrial do tipo ostium secundum. O ecocardiograma transesofágico realizado no laboratório de hemodinâmica identificou septo interatrial multifenestrado com sobrecarga volumétrica das cavidades cardíacas direitas. A complementação 3D através da projeção "em face" do septo interatrial em posição anatômica, auxiliou na definição da presença de três comunicações, uma de localização mais posterior medindo 15mm e, outras duas de 4mm e 5mm. A tecnologia 3D permitiu o fechamento da maior comunicação interatrial com prótese Amplatzer nº30, sem intercorrências. O ecocardiograma de controle demonstrou dispositivo bem posicionado, sem comprometer estruturas adjacentes, com comunicação residual de 3,5 mm em região anterossuperior do septo. CONCLUSÕES: A imagem 3D em casos de septo interatrial multifenestrado otimiza a definição da estratégia de qual defeito ser atravessado com os guias e cateteres e a escolha da dimensão da prótese pensando na cobertura dos defeitos menores adjacentes pelos discos de retenção. Conjuntamente, a imagem 3D indica de forma mais precisa em qual defeito os cateteres estão passando, já que o bidimensional pode não definir claramente, principalmente quando os orifícios estão próximos entre si. O caso apresentado retrata uma anatomia complexa do defeito do septo interatrial, caracterizada pelo septo multifenestrado, o que pode ser desafiador para o tratamento por via percutânea. Foi demonstrada a importância da complementação ecocardiográfica 3D como ferramenta na avaliação anatômica precisa dentro da sala de cateterismo.

Gene therapy in neuromuscular disorders.

Monogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to toxic effects. Spinal Muscular Atrophy (SMA) is a good example of a monogenic disease that currently has an AAV9-based vector gene therapy as a therapeutic option. In this review, we intend to discuss the viral vectors and their mechanisms of action, in addition to reviewing the clinical trials that supported the approval of gene therapy (AVXS-101) for SMA as well as neuromuscular diseases that are potentially treatable with gene replacement therapy.

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders.

BACKGROUND: The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. OBJECTIVE: We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. METHODS: Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. RESULTS: There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. CONCLUSION: The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.

The Location of Disease-Causing DES Variants Determines the Severity of Phenotype and the Morphology of Sarcoplasmic Aggregates.

Desmin (DES) is the main intermediate muscle filament that connects myofibrils individually and with the nucleus, sarcolemma, and organelles. Pathogenic variants of DES cause desminopathy, a disorder affecting the heart and skeletal muscles. We aimed to analyze the clinical features, morphology, and distribution of desmin aggregates in skeletal muscle biopsies of patients with desminopathy and to correlate these findings with the type and location of disease-causing DES variants. This retrospective study included 30 patients from 20 families with molecularly confirmed desminopathy from 2 neuromuscular referral centers. We identified 2 distinct patterns of desmin aggregates: well-demarcated subsarcolemmal aggregates and diffuse aggregates with poorly delimited borders. Pathogenic variants located in the 1B segment and the tail domain of the desmin molecule are more likely to present with early-onset cardiomyopathy compared to patients with variants in other segments. All patients with mutations in the 1B segment had well-demarcated subsarcolemmal aggregates, but none of the patients with variants in other desmin segments showed such histological features. We suggest that variants located in the 1B segment lead to well-shaped subsarcolemmal desmin aggregation and cause disease with more frequent cardiac manifestations. These findings will facilitate early identification of patients with potentially severe cardiac syndromes.

Effect of the COVID-19 pandemic on patients with inherited neuromuscular disorders / Efeito da pandemia do COVID-19 em pacientes com doenças neuromusculares hereditárias

ABSTRACT Background The COVID-19 pandemic has brought substantial challenges for current practices in treating hereditary neuromuscular disorders (hNMDs). However, this infection has not been the only concern for these patients. Social distancing has compromised multidisciplinary assistance and physical activity, and has brought about several mental health issues. We presented a follow-up on 363 patients with hNMDs at a Brazilian tertiary center during the peak of the COVID-19 pandemic. Objective We aimed to show the frequency and severity of SARS-CoV-2 infection among hNMD patients and to demonstrate the effects of the pandemic on life habits, disease progression and multidisciplinary supportive care status. Methods Three hundred and sixty-three patients (58% male and 42% female) were followed for three months through three teleconsultations during the peak of the COVID-19 pandemic in Brazil. Results There were decreases in the numbers of patients who underwent physical, respiratory and speech therapies. For several patients, their appetite (33%) and sleep habits (25%) changed. Physical exercises and therapies were interrupted for most of the patients. They reported new onset/worsening of fatigue (17%), pain (17%), contractions (14%) and scoliosis (7%). Irritability and sleep, weight and appetite changes, and especially diminished appetite and weight loss, were more frequent in the group that reported disease worsening. There was a low COVID-19 contamination rate (0.8%), and all infected patients had a mild presentation. Conclusion The isolation by itself was protective from a COVID-19 infection perspective. However, this isolation might also trigger a complex scenario with life habit changes that are associated with an unfavorable course for the NMD.

RESUMO Antecedentes: A Pandemia por COVID-19 tem trazido desafios subtanciais para a prática clínica no tratamento das doenças neuromusculares hereditárias (DNMh). A infecção não tem sido a única preocupação para os pacientes. O distanciamento social tem comprometido a assistência multidisciplinar, atividade física e tem trazido problemas mentais em decorrência do próprio isolamento. Nós apresentamos aqui um seguimento de 363 pacientes com DNMh de um centro terciário Brasileiro durante o pico da Pandemia de Covid-19. Objetivos: Mostrar a frequência e gravidade da infecção por Sars-Cov-2 em pacientes com DNMh e demonstrar os efeitos da pandemia nos hábitos de vida, na progressão da doença e no cuidado multidisciplinary. Métodos Trezentos e sessenta e três pacientes (58% homens and 42% mulheres) foram acompanhados por 3 meses através de 3 teleconsultas durante o pico da Pandemia de Covid-19 no Brasil. Resultados Houve um decréscimo no número de pacientes que faziam terapia física, respiratória e fonoaudiológica. Em muitos pacientes, o apetite (33%) e hábitos do sono (25%) se alteraram. Exercícios físicos e terapias foram interrompidas pela maioria dos pacientes. Physical exercises and therapies were interrupted for most of the patients. Eles relataram piora ou aparecimento de fadiga (17%), dor (17%), retrações (14%), e escoliose (7%). Irritabilidade, mudanças no sono, peso e apetite, sendo principalmente diminuição do apetite e peso foram mais frequentemente encontrados em pacientes que apresentaram piora clinica da doença. Houve uma baixa taxa de contaminação por Covid-19 (0.8%), e todos os pacientes infectado apresentaram quadro clinico leve. Conclusão O isolamento por si só se mostrou protetor na perspectiva de infecção por Covid-19, mas pode desencadear um cenário complexo com mudanças nos hábitos de vida e curso desfavorável da doença de base.

Guillain-Barré syndrome spectrum as manifestation of HIV-related immune reconstitution inflammatory syndrome: case report and literature review.

A 34-year-old man presented with a history of 21-days of gait unsteadiness and diplopia. Ten days before presentation, he developed limb weakness and in the last three days reduced consciousness. HIV infection was diagnosed three months ago (CD4+ = 160 cells/mm3; viral load HIV-1 = 144.000 copies/mL), and antiretroviral therapy was initiated. Impaired consciousness, ophthalmoplegia, limb weakness, ataxia, areflexia, and Babinsky´s sign were noted. At that moment, CD4+ count was 372 cells/mm 3 and viral load HIV-1 <50 copies/mL. The clinical, laboratory and neurophysiological findings suggest overlapping Guillain-Barre syndrome (GBS) and Bickerstaff brainstem encephalitis as manifestation of HIV-related immune reconstitution inflammatory syndrome (IRIS). Here, we review and discuss 7 cases (including the present report) of GBS spectrum as manifestation of HIV-related IRIS.

Gene therapy in neuromuscular disorders / Terapia gênica nas doenças neuromusculares

Abstract Monogenic neuromuscular disorders are potentially treatable through gene therapy. Using viral vectors, a therapeutic transgene aims to restore normal levels of a protein not produced by the defective gene, or to silence a gene whose expression leads to toxic effects. Spinal Muscular Atrophy (SMA) is a good example of a monogenic disease that currently has an AAV9-based vector gene therapy as a therapeutic option. In this review, we intend to discuss the viral vectors and their mechanisms of action, in addition to reviewing the clinical trials that supported the approval of gene therapy (AVXS-101) for SMA as well as neuromuscular diseases that are potentially treatable with gene replacement therapy.

Resumo Doenças neuromusculares monogênicas são potencialmente tratáveis através de terapia gênica. Utilizando-se de vetores virais, um transgene terapêutico objetiva repor os níveis normais de uma proteina não produzida pelo gene defeituoso ou silenciar um gene cuja expressão leva a efeitos tóxicos. A Atrofia Muscular Espinhal (AME) é um bom exemplo de doença monogenica que atualmente tem uma terapia gênica com vetor viral AAV9 como opção terapêutica. Nesta revisão, pretendemos discutir os vetores virais e macanismos de ação utilizados, além de revisar os ensaios clínicos que embasaram a aprovação da terapia gênica (AVXS-101) para AME, assim como doenças neuromusculares potencialmente tratáveis com terapia de reposição gênica.

Quality assessment of systematic reviews of surgical treatment of cervical spine degenerative diseases: an overview.

OBJECTIVE: To gather all systematic reviews of surgical treatment of degenerative cervical diseases and assess their quality, conclusions and outcomes. METHODS: A literature search for systematic reviews of surgical treatment of degenerative cervical diseases was conducted. Studies should have at least one surgical procedure as an intervention. Included studies were assessed for quality through Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) and Assessment of Multiple Systematic Reviews (AMSTAR) questionnaires. Quality of studies was rated accordingly to their final score as very poor (<30%), poor (30%-50%), fair (50%-70%), good (70%-90%), and excellent (>90%). If an article reported a conclusion addressing its primary objective with supportive statistical evidence for it, they were deemed to have an evidence-based conclusion. RESULTS: A total of 65 systematic reviews were included. According to AMSTAR and PRISMA, 1.5% to 6.2% of studies were rated as excellent, while good studies counted for 21.5% to 47.7%. According to AMSTAR, most studies were of fair quality (46.2%), and 6.2% of very poor quality. Mean PRISMA score was 70.2%, meaning studies of good quality. For both tools, performing a meta-analysis significantly increased studies scores and quality. Cervical spondylosis studies reached highest scores among diseases analyzed. Authors stated conclusions for interventions compared in 70.7% of studies, and only two of them were not supported by statistical evidence. CONCLUSION: Systematic reviews of surgical treatment of cervical degenerative diseases present "fair" to "good" quality in their majority, and most of the reported conclusions are supported by statistical evidence. Including a meta-analysis significantly increases the quality of a systematic review.

Quality assessment of systematic reviews of surgical treatment of cervical spine degenerative diseases: an overview

ABSTRACT Objective To gather all systematic reviews of surgical treatment of degenerative cervical diseases and assess their quality, conclusions and outcomes. Methods A literature search for systematic reviews of surgical treatment of degenerative cervical diseases was conducted. Studies should have at least one surgical procedure as an intervention. Included studies were assessed for quality through Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) and Assessment of Multiple Systematic Reviews (AMSTAR) questionnaires. Quality of studies was rated accordingly to their final score as very poor (<30%), poor (30%-50%), fair (50%-70%), good (70%-90%), and excellent (>90%). If an article reported a conclusion addressing its primary objective with supportive statistical evidence for it, they were deemed to have an evidence-based conclusion. Results A total of 65 systematic reviews were included. According to AMSTAR and PRISMA, 1.5% to 6.2% of studies were rated as excellent, while good studies counted for 21.5% to 47.7%. According to AMSTAR, most studies were of fair quality (46.2%), and 6.2% of very poor quality. Mean PRISMA score was 70.2%, meaning studies of good quality. For both tools, performing a meta-analysis significantly increased studies scores and quality. Cervical spondylosis studies reached highest scores among diseases analyzed. Authors stated conclusions for interventions compared in 70.7% of studies, and only two of them were not supported by statistical evidence. Conclusion Systematic reviews of surgical treatment of cervical degenerative diseases present "fair" to "good" quality in their majority, and most of the reported conclusions are supported by statistical evidence. Including a meta-analysis significantly increases the quality of a systematic review.

Impact of the sitting position on lumbar lordosis and its correlation with pelvic parameters / Impacto da posição sentada na lordose lombar e sua correlação com parâmetros pélvicos / Impacto de la posición sentada en la lordosis lumbar y su correlación con parámetros pélvicos

ABSTRACT Objective: To evaluateboth the correlation between lumbar accommodation and pelvic parametersin different types of lordosis and the participation of different lumbar segments in the accommodation of lordosis in the standing and sitting positions. Methods: A retrospective study analyzingpatient images in standing and sitting positions. Correlations were conducted among the measured data: Cobb angle of the lumbar lordosis (LL,type of lordosis, pelvic incidence (PI),sacral slope (SS),pelvic tilt (PT), and the angulation of the L1-L2/L2-L3/L3-L4/L4-L5/L5-S1 segments. Results: Fortypatients were included, 20 men and 20 women. The mean age was 60.8 (±11.5). Of these patients, 10.3% were classified as Roussouly type 2, 35.9% as type 3, 25.6% as type 3A, and 28.2%as type 4.There was a weakcorrelation between LL and PT, however, an inverse correlation between the two (r=-0.183 and p=0.264) was observed. SS hadthe strongest correlation with LL (r> 0.75). Only the correlation between LL and PI was stronger when sitting than standing (p=0.014). The pelvic parameters and angulations of the segments and lumbar discs when standing and sitting were different (p<0.05). In both positions, there was a difference in the contribution of the segments to the LL (p<0.001). On average, the differences in LL between standing and sitting wereequal among theRoussouly classifications (p=0.332). Conclusions: There was a correlation between the LL and the pelvic parameters, being more evident with the SS than with the other parameters. There was no difference in the accommodation of the LL in the different Roussouly types either standing or sitting. Regardless of the position,the L4-S1 segments were predominant in the composition of LL. Level of evidence IV; Retrospective.

RESUMO Objetivo: Avaliar a correlação entre a acomodação lombar eos parâmetros pélvicosem diferentes tipos de lordose coma participação dos seguimentos lombares na acomodação da lordose nas posições ortostáticae sentada. Métodos: Estudo retrospectivo de análise de imagens de pacientes em ortostasia e sentados. Foi realizada correlação entre os dados mensurados: ângulo de Cobb da lordose lombar (LL); tipo de lordose; incidência pélvica (IP); inclinação sacral (IS); versão pélvica (VP) e angulação dos seguimentos L1-L2, L2-L3/L3-L4/L4-L5, L5-S1. Resultados: Foram incluídos 40 pacientes, 20 homens e 20 mulheres. Média de idade 60,8 anos (±11,5). Desses pacientes, 10,3% foram classificados como tipo 2 de Roussouly, 35,9% como tipo 3, 25,6% como tipo 3A e 28,2% como tipo 4. Observou-se baixa correlação entreLL eVP que, no entanto, apresentou correlação inversa entre as duas (r=-0,183 e p=0,264). A IS apresentou maior correlação com a LL (r>0,75). Apenas a correlação da LL com IPfoi maior na posição sentadado que na ortostática (p=0,014). Os parâmetros pélvicos, as angulações dos seguimentos e discos lombares em ortostasia e sentado apresentaram diferença entre si (p<0,05). Em ambas as posições houve diferença na contribuição dos seguimentos na LL (p<0,001). As diferenças da LL entre ortostasia e sentado foram em média iguais entre as classificações de Roussouly (p=0,332). Conclusões: Houve correlação da LL com os parâmetros pélvicos, sendo mais evidente com a IS do que com os demais parâmetros. Não houve diferença na acomodação da LL nos diferentes tipos de Roussouly em ortostasia ou sentado. Independentementeda posição, L4-S1 são predominantes na composição da LL. Nível de Evidência IV; Estudo Retrospectivo.

RESUMEN Objetivo: Evaluar la correlación entre la acomodación lumbar y los parámetros pélvicos en diferentes tipos de lordosis con la participación de los segmentos lumbares en la acomodación de la lordosis en posición ortostática y sentada. Métodos: Estudio retrospectivo de análisis de imágenes de pacientes en ortostasis y sentados. Se realizó la correlación entre los datos medidos: ángulo de Cobb de la lordosis lumbar (LL); tipo de lordosis; incidencia pélvica (IP); pendiente sacra (PS); versión pélvica (VP) y angulación de los segmentos L1-L2/L2-L3/L3-L4/L4-L5/L5-S1. Resultados: Se incluyeron 40 pacientes, 20 hombres y 20 mujeres. La edad media fue de 60,8 (±11,5). De estos pacientes, el 10,3% fueron clasificados como tipo 2 de Roussouly, el 35,9% tipo 3, el 25,6% tipo 3A y el 28,2% como tipo 4. Se observó baja correlación de LL con VP, que, sin embargo,presentó una correlación inversa entre ambas (r= -0,183 y p=0,264). La PSpresentó la mayor correlación con la LL (r> 0,75). Solo la correlación de la LL con IP fue mayor en la posición sentada que en la ortostática (p=0,014). Los parámetros pélvicos, las angulaciones de los segmentos y los discos lumbares en ortostasis y posición sentadapresentaron una diferenciaentre ellos (p<0,05). En ambas posiciones, hubo una diferencia en la contribución de los segmentos a la LL (p<0,001). Las diferencias de LL entre ortostasis y posición sentada fueron, en promedio, iguales entre las clasificaciones de Roussouly (p=0,332). Conclusiones: Hubo una correlación entre la LL y los parámetros pélvicos, siendo más evidente con la PS que con los demás parámetros. No hubo diferencia en la acomodación de la LL en los diferentes tipos de Roussouly en ortostasis o posición sentada. Independientemente de la posición, L4-S1 predominan en la composición de la LL. Nivel de Evidencia IV; Estudio Retrospectivo.