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Introducción: La Distrofia Muscular de Duchenne (DMD) y la Atrofia Muscular Espinal (AME) son enfermedades neuromusculares genéticas poco comunes pero graves en la población pediátrica con alta carga de morbilidad y mortalidad. A pesar de avances en su comprensión y búsqueda de opciones terapéuticas dirigidas, persisten vacíos en la detección oportuna, caracterización, seguimiento de pacientes, búsqueda activa de portadores y en algunos países de Latinoamérica sin tamización neonatal. Objetivo: Caracterizar clínica, paraclínica, imagenológica y molecularmente pacientes con diagnóstico presuntivo y confirmado de distrofia muscular de Duchenne (DMD) y Atrofia Muscular Espinal (AME) atendidos en un centro pediátrico de referencia y excelencia del Suroccidente Colombiano. Materiales y Métodos: Estudio observacional de corte transversal en pacientes menores de 18 años con diagnósticos CIE-10 relacionados con DMD y AME. Los datos se exportaron a una matriz de Excel en Office 365 versión 2403, y luego a IBM SPSS versión 29 para realizar un análisis univariado, se emplearon medidas de tendencia central y dispersión para variables numéricas, considerando su distribución, y frecuencias absolutas y porcentajes para variables cualitativas. Resultados: Tras revisar 954 historias clínicas pertenecientes a un centro de atención pediátrica en el Suroccidente Colombiano entre los años 2015 - 2021, se identificaron 422 casos relacionados a Distrofia Muscular de Duchenne (DMD) y Atrofia Muscular Espinal (AME); excluyendo duplicados y registros no relacionados, de estos, se seleccionaron aleatoriamente 99 casos para un análisis exhaustivo utilizando OpenEpi versión 3.01, distribuidos en dos grupos: AME (n=23) y DMD (n=76). Los pacientes confirmados con Distrofia Muscular de Duchenne (DMD) mostraron un inicio de síntomas a los 54,5 ± 29,0 meses y un diagnóstico a los 98,8 ± 34,9 meses, siendo más común en varones con hipotonía y niveles elevados de creatin quinasa (CK), el 54,5% presentaba trastorno cognitivo y el 88.2% tenía antecedentes familiares, en la Atrofia Muscular Espinal (AME), el inicio de síntomas fue a los 28,9 ± 37,7 meses y el diagnóstico a los 37,9 ± 38,2 meses, siendo predominante en mujeres con arreflexia y fasciculaciones, no hubo registros de la función cognitiva en los pacientes confirmados, y el 21,7% tenía antecedentes familiares de AME, además de ligeras elevaciones de CK. En el grupo AME, 9 casos se confirmaron molecularmente y 3 se respaldaron con registros médicos; en contraste, en el grupo de DMD, 22 casos tuvieron confirmación molecular, pero 9 contaban con anotaciones en los registros médicos, aunque estos informes eran incompletos. Conclusiones: La sospecha y diagnóstico temprano de estas enfermedades neurodegenerativas progresivas que se caracterizan por altas tasas de morbilidad y mortalidad es fundamental para impactar en el abordaje holístico que deben recibir los pacientes. Dado al continuo avance en métodos diagnósticos y opciones terapéuticas innovadoras y dirigidas ( medicina de la hiperpersonalización ), se hace necesario crear registros y "big data" médicos- clínicos completos, que cuenten con todas las herramientas actuales disponibles (opciones diagnósticas multimodales) que faciliten el re-contacto de pacientes, seguimiento y poderles ofrecer una atención personalizada, de precisión, que mejore la calidad de vida de ellos, sus familias, contribuyendo en la generación de políticas públicas integradas y dirigidas. (provisto por Infomedic International)

Introduction: Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) are rare but severe genetic neuromuscular diseases in the pediatric population with high burden of morbidity and mortality. Despite advances in their understanding and search for targeted therapeutic options, there are still gaps in timely detection, characterization, patient follow-up, active search for carriers and in some Latin American countries no neonatal screening. Objective: To characterize clinically, paraclinically, imaging and molecularly patients with presumptive and confirmed diagnosis of Duchenne muscular dystrophy (DMD) and Spinal Muscular Atrophy (SMA) attended in a pediatric center of reference and excellence in Southwestern Colombia. Materials and Methods: Observational cross-sectional study in patients under 18 years of age with ICD-10 diagnoses related to DMD and SMA. Data were exported to an Excel matrix in Office 365 version 2403, and then to IBM SPSS version 29 to perform a univariate analysis, measures of central tendency and dispersion were used for numerical variables, considering their distribution, and absolute frequencies and percentages for qualitative variables. Results: After reviewing 954 medical records belonging to a pediatric care center in Southwestern Colombia between 2015 - 2021, 422 cases related to Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) were identified; excluding duplicates and unrelated records, from these, 99 cases were randomly selected for a comprehensive analysis using OpenEpi version 3.01, distributed in two groups: SMA (n=23) and DMD (n=76). Patients confirmed with Duchenne Muscular Dystrophy (DMD) showed symptom onset at 54.5 ± 29.0 months and diagnosis at 98.8 ± 34.9 months, being more common in males with hypotonia and elevated creatin kinase (CK) levels, 54.5% had cognitive impairment and 88. 2% had family history, in Spinal Muscular Atrophy (SMA), the onset of symptoms was at 28.9 ± 37.7 months and diagnosis at 37.9 ± 38.2 months, being predominant in females with areflexia and fasciculations, there were no records of cognitive function in confirmed patients, and 21.7% had family history of SMA, in addition to slight elevations of CK. In the SMA group, 9 cases were molecularly confirmed and 3 were supported by medical records; in contrast, in the DMD group, 22 cases had molecular confirmation, but 9 had annotations in medical records, although these reports were incomplete. Conclusions: Early suspicion and diagnosis of these progressive neurodegenerative diseases characterized by high morbidity and mortality rates is critical to impact the holistic approach patients should receive. Given the continuous advance in diagnostic methods and innovative and targeted therapeutic options (hyperpersonalization medicine), it is necessary to create complete medical-clinical registries and big data, which have all the current tools available (multimodal diagnostic options) to facilitate patient re-contact, follow-up and to be able to offer personalized, precision care that improves the quality of life of patients and their families, contributing to the generation of integrated and targeted public policies. (provided by Infomedic International)

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Objetivo: Evaluar el efecto de los exosomas como tratamiento alternativo en la restauración del síndrome genitourinario de la menopausia en pacientes que acuden a una consulta ginecológica, en Valencia, Estado Carabobo, en el período junio - agosto de 2023. Métodos: Estudio prospectivo, descriptivo, exploratorio, incluyó tres casos de mujeres con diagnóstico de síndrome genitourinario de la menopausia. Se evaluó la respuesta en cuanto a los síntomas, examen clínico según el índice de salud vaginal, la satisfacción con el tratamiento y la tolerabilidad. Se aplicó el tratamiento con exosomas: 2 cc con técnica de punto a punto en todas las paredes vaginales y 1 cc en el vestíbulo, en 3 sesiones, con intervalo de 15 días. Resultados: La edad de las pacientes estuvo entre 53 y 56 años, con un promedio de tiempo de menopausia de 6,6 años. Previo al tratamiento, había un nivel alto de irritación vaginal (100 %), dolor en el introito (100 %), sequedad vaginal, dispareunia, hipersensibilidad y las no relaciones sexuales (66,67 %). Postratamiento predominó la ausencia de los síntomas: sequedad vaginal, dispareunia, hipersensibilidad y dolor en introito (100 %); irritación vaginal y no relaciones sexuales (66,67 %) (p = 0,0001). La mediana del índice de salud vaginal previa fue 13 (10 ­ 13) y posterior fue 18 (17 ­ 20) (p = 0,0476). La satisfacción y tolerabilidad fue de 66,67 %. Una paciente refirió dolor leve. Conclusión: La terapia con exosomas es eficaz para reducir los síntomas y signos del síndrome genitourinario de la menopausia, y bien tolerado(AU)

Objective: To evaluate the effect of exosomes as an alternative treatment in the restoration of genitourinary syndrome of menopause in patients attending a gynecological consultation in Valencia, Carabobo State, in the period June - August 2023. Methods: A prospective, descriptive, exploratory study included three cases of women diagnosed with genitourinary syndrome of menopause. Response was assessed in terms of symptoms, clinical examination according to vaginal health index, satisfaction with treatment and tolerability. Treatment with exosomes was applied: 2 cc with point-to-point technique on all vaginal walls and 1 cc in the vestibule, in 3 sessions, with an interval of 15 days. Results: The age of the patients was between 53 and 56 years, with a mean menopause time of 6.6 years. Prior to treatment, there was a high level of vaginal irritation (100%), pain in the introitus (100%), vaginal dryness, dyspareunia, hypersensitivity and non-sexual intercourse (66.67%). Post-treatment, the absence of symptoms predominated: vaginal dryness, dyspareunia, hypersensitivity and pain in the introitus (100%); vaginal irritation and no sexual intercourse (66.67%) (p = 0.0001). The median index of previous vaginal health was 13 (10 ­ 13) and subsequent was 18 (17 ­ 20) (p = 0.0476). Satisfaction and tolerability was 66.67%. One patient reported mild pain. Conclusion: Exosome therapy is effective in reducing the symptoms and signs of genitourinary syndrome of menopause, and well tolerated(AU)

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La atrofia muscular espinal (AME) 5q es una de las enfermedades neuromusculares de mayor incidencia en la infancia. Sin embargo, la prevalencia de AME tipo 1, su forma más severa de presentación, es menor debido a muertes prematuras evitables antes de los dos años por insuficiencia ventilatoria subtratada. La irrupción de nuevos tratamientos modificadores de la enfermedad pueden cambiar dramáticamente este pronóstico y es una oportunidad para actualizar el manejo respiratorio, a través de cuidados estandarizados básicos, preferentemente no invasivos, abordando la debilidad de los músculos respiratorios, la insuficiencia tusígena y ventilatoria, con un enfoque preventivo. La siguiente revisión literaria entrega estrategias para evitar la intubación y la traqueostomía usando soporte ventilatorio no invasivo (SVN), reclutamiento de volumen pulmonar (RVP) y facilitación de la tos. Se analizan en detalle los protocolos de extubación en niños con AME tipo 1.

Spinal muscular atrophy (SMA) 5q is one of the neuromuscular diseases with the highest incidence in childhood. Nevertheless, the prevalence of its most severe form SMA1 is lower due to premature preventable deaths before two years of age related to ventilatory insufficiency undertreated. The emergence of new disease-modifying treatments can dramatically change this prognosis and is an opportunity to update respiratory management, through basic standardized care, mostly non-invasive, addressing respiratory muscles pump weakness, cough and ventilatory insufficiency with a preventive approach. This literature review provides consensus recommendations for strategies to avoid intubation and tracheostomy using noninvasive ventilatory support (NVS), lung volume recruitment (LVR), and cough facilitation. Extubation protocols in children with SMA type 1 are analyzed in detail.

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El síndrome genitourinario es una entidad hoy en día cada vez más frecuente en la mujer posmenopáusica, con signos y síntomas muy característicos que llevan a la pérdida de calidad de vida de las pacientes, generados por la disminución de estrógenos. Su diagnóstico se realiza mediante una buena historia clínica, exámenes hormonales, estudios urodinámicos y de pH vaginal. Su clínica varía desde sequedad vaginal, atrofia de la misma, vaginitis a repetición, pérdida de orina al esfuerzo, nicturia y dispareunia. A los largo de los años se han protocolizado diferentes tratamientos como reemplazos hormonales, lubricantes y cirugías invasivas vaginales. Pero en los últimos años ha aparecido una nueva terapéutica de láser CO2 fraccionado. Materiales y método. Se realizó un estudio retrospectivo de seis años de evolución, entre los años 2017 y 2023, con más de 300 pacientes tratadas con tecnología láser CO2 fraccionado, con criterios de inclusión y exclusión, protocolizando 3 sesiones cada 30 días y controles hasta los 6 meses. Resultados. Para evaluar los resultados se diseñó una encuentra de satisfacción de 5 puntos, la cual fue presentada luego de cada sesión, encontrando un alto grado de satisfacción en la mejoría clínica a medida que transcurrían las sesiones, con un muy bajo índice de complicaciones. También biopsias con mejorías histológicas que demuestran resultados. Discusión. La aplicación de esta nueva tecnología láser nos abre una posibilidad terapéutica segura, rápida y efectiva para mejorar la sintomatología y calidad de vida de nuestras pacientes con síndrome genitourinario, sumando una nueva terapéutica a todo el arsenal de tratamientos médico-quirúrgicos disponibles a la fecha. Conclusiones. El síndrome genitourinario es una entidad prácticamente inevitable, con síntomas desde leves a graves, que afecta la calidad de vida personal, sexual y social. Los tratamientos hasta la fecha hormonales, tópicos o quirúrgicos han dado mediocres resultados sin estar exentos de complicaciones, por lo que la aparición de la tecnología láser CO2 fraccionada nos ha dado el plus necesario para aportar un tratamiento seguro, eficaz, con mínimas complicaciones y una curva de aprendizaje pequeña

Genitourinary syndrome is an increasingly frequent entity in postmenopausal women today, with very characteristic signs and symptoms that lead to a loss of quality of life in patients, generated by estrogen depletion, whose diagnosis is made through a good clinical history, hormonal tests, urodynamic and vaginal pH studies. Its symptoms vary from vaginal dryness, vaginal atrophy, repeated vaginitis, loss of urine on exertion, nocturia and dyspareunia. Over the years, different treatments have been protocolized, such as hormone replacements, lubricants, and invasive vaginal surgeries. But in recent years a new fractionated CO2 laser therapy has appeared. Materials and method. A retrospective study of six years of evolution was carried out, between the years 2017 and 2023, with more than 300 patients treated with fractionated CO2 laser technology, with inclusion and exclusion criteria, protocolizing 3 sessions every 30 days and controls until the 6 months. Results. To evaluate the results, a 5-point satisfaction score was designed, which was presented after each session, finding a high degree of satisfaction in the clinical improvement as the sessions progressed with a very low indication of complications. Also biopsies with histological improvements that demonstrate results. Discussion. The application of this new laser technology opens up a safe, fast and effective therapeutic possibility to improve the symptoms and quality of life of our patients with genitourinary syndrome, adding a new therapeutic option to the arsenal of medical-surgical treatments available to date. Conclusions. Genitourinary syndrome is a practically inevitable entity, with symptoms ranging from mild to severe, affecting the quality of personal, sexual and social life. The hormonal, topical or surgical treatments to date have given mediocre results, not being free of complications, so the appearance of fractionated CO2 laser technology has given us the necessary extra to provide a safe, effective treatment, with minimal complications. and a small learning curve.

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La atrofia muscular espinal (AME) de presentación temprana representa la variante más severa, con una expectativa de vida generalmente no mayor a dos años sin soporte ventilatorio, debido a la insuficiencia respiratoria y la dificultad para toser. Tradicionalmente, el manejo respiratorio en muchos países ha incluido la traqueostomía para proporcionar asistencia ventilatoria invasiva de manera continua. No obstante, la introducción de medicamentos de precisión ha modificado la progresión natural de la enfermedad, evidenciando mejoras significativas en los hitos motores y beneficiando también la función respiratoria. A pesar de estas mejoras, en muchos casos sigue siendo necesaria la ventilación intermitente y/o continua, además de la facilitación de la tos. Estas necesidades pueden abordarse de forma no invasiva mediante el soporte ventilatorio no invasivo (SVN), la in-exsuflación mecánica (IEM) y el reclutamiento de volumen pulmonar (RVP), que son considerados pilares del tratamiento respiratorio en enfermedades neuromusculares. Estas estrategias promueven el desarrollo y mantenimiento de la función respiratoria, reduciendo el riesgo de exacerbaciones respiratorias que podrían llevar a intubaciones evitables. Comúnmente, los pacientes con AME experimentan intentos fallidos de extubación siguiendo protocolos tradicionales, siendo catalogados como no extubables y potenciales candidatos a traqueostomía. No obstante, existen protocolos de extubación específicos para AME que emplean SVN e IEM con un alto porcentaje de éxito, evitando traqueostomías innecesarias que pueden complicar la progresión de la enfermedad y afectar la calidad de vida. El enfoque respiratorio no invasivo es una opción de manejo segura tanto en el hospital como en el hogar, ofreciendo una mejor calidad de vida para los pacientes y sus familias.

Early-onset spinal muscular atrophy (SMA) is the most severe variant, with a life expectancy generally not exceeding two years without ventilatory support due to respiratory insufficiency and difficulty in coughing. Traditionally, respiratory management in many countries has included tracheostomy to provide continuous invasive ventilatory support. However, the introduction of precision medicine has altered the natural progression of the disease, showing significant improvements in motor milestones and also benefiting respiratory function. Despite these improvements, many cases still require intermittent and/or continuous ventilation, as well as cough facilitation. These needs can be addressed non-invasively through non-invasive ventilatory support (NIV), mechanical insufflation-exsufflation (MIE), and lung volume recruitment (LVR), which are considered the pillars of respiratory treatment in neuromuscular diseases. These strategies promote the development and maintenance of respiratory function, reducing the risk of respiratory exacerbations that could lead to avoidable intubations. Commonly, SMA patients experience failed extubation attempts following traditional protocols, being labeled as non-extubatable and potential candidates for tracheostomy. Nevertheless, there are specific extubation protocols for SMA that employ NIV and MIE with a high success rate, avoiding unnecessary tracheostomies that can complicate disease progression and impact quality of life. The non-invasive respiratory approach is a safe management option both in the hospital and at home, offering a better quality of life for patients and their families.

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RESUMEN Introducción: Existe evidencia sobre los beneficios del tratamiento no invasivo en la insuficiencia respiratoria aguda (IRA) asociada a la atrofia muscular espinal (AME). Sin embargo, hasta la fecha, no hemos encontrado reportes de casos en nuestro país que describan el manejo no invasivo en la IRA causada por atelectasias masivas en pacientes con AME. El objetivo de este estudio fue describir el abordaje respiratorio no invasivo en un niño con AME tipo II que ingresó con IRA y atelectasia masiva, a un hospital público pediátrico. Presentación del caso: Un niño de 10 años con diagnóstico de AME II ingresó con dificultad respiratoria en el contexto de una atelectasia masiva izquierda. Se implementaron medidas no invasivas, que incluyeron el posicionamiento adecuado, la intensificación de la terapia de higiene bronquial, el aumento del tiempo de ventilación no invasiva y la optimización del equipo de soporte ventilatorio y de la interfaz. Luego de cinco días de tratamiento, se observó una resolución significativa de la atelectasia. Al octavo día, se le otorgó el egreso hospitalario. Conclusión: Se describió el abordaje respiratorio no invasivo en un niño con AME tipo II, el cual resultó favorable para la IRA y la resolución de una atelectasia masiva. Los cuidados respiratorios no invasivos son fundamentales para mejorar la sobrevida y calidad de vida de estos pacientes.

ABSTRACT Introduction: There is evidence supporting the benefits of non-invasive treatment for acute respiratory failure (ARF) associated with spinal muscular atrophy (SMA). However, to date, no case reports describing the non-invasive management of ARF due to massive atelectasis in patients with SMA are available in our country. The aim of this study was to describe the non-invasive respiratory approach in a child with SMA type II who was admitted with ARF and massive atelectasis to a public pediatric hospital. Case presentation: A 10-year-old child diagnosed with SMA type II was admitted with respiratory failure due to massive atelectasis of the left lung. Non-invasive measures, including proper positioning, enhanced use of airway clearance techniques, prolonged non-invasive ventilation, and optimization of ventilatory support equipment and interface, were implemented. After five days of treatment, a significant improvement in atelectasis was observed. On the eighth day, the patient was discharged. Conclusion: We described the non-invasive respiratory approach in a child with SMA type II, which proved to be beneficial in addressing ARF and massive atelectasis. Non-invasive respiratory care is essential for improving both the survival and quality of life of these patients.

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OBJECTIVES: This study aimed to evaluate the cost-effectiveness of the onasemnogene abeparvovec in relation to nusinersen and risdiplam in the treatment of spinal muscular atrophy type 1 from the perspective of the Brazilian Unified Health System. METHODS: A Markov model was built on a lifetime horizon. Short-term data were obtained from clinical trials of the technologies and from published cohort survival curves (long term). Costs were measured in current 2022 local currency (R$) values and benefits in quality-adjusted life-years (QALYs). Utility values were derived from type 1 spinal muscular atrophy literature, whereas costs related to technologies and maintenance care in each health state were obtained from official sources of reimbursement in Brazil. Deterministic and probabilistic, as well as scenario, sensitivity analyses were performed. RESULTS: Compared with the less costly strategy (nusinersen), the use of onasemnogene abeparvovec resulted in an incremental cost of R$2.468.448,06 ($975 671.169 - purchasing power parity [PPP]) and a 3-QALY increment and incremental cost-effectiveness ratio of R$742.890,92 ($293 632.774 - PPP)/QALY. Risdiplam had an extended dominance from other strategies, resulting in an incremental cost-effectiveness ratio of R$926.586,22 ($366 239.612 - PPP)/QALY compared with nusinersen. Sensitivity analysis showed a significant impact of the follow-up time of the cohort and the cost of acquiring onasemnogene abeparvovec. CONCLUSIONS: Over a lifetime horizon, onasemnogene abeparvovec seems to be a potentially more effective option than nusinersen and risdiplam, albeit with an incremental cost. Such a trade-off should be weighed in efficiency criteria during decision making and outcome monitoring from the perspective of the Brazilian Unified Health System.

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Abstract Objective To analyze the muscle trophism and expression of interleukin-6 in the biceps brachii muscle of rats with incomplete cervical spinal cord injury treated with neuromuscular electrical stimulation (NMES). Methods Adult rats underwent C5-C7 spinal cord hemisection and a 5-week NMES protocol. Trophism of the biceps brachii was assessed using muscle weight/body weight ratio and histological analysis. Interleukin-6 expression from biceps brachii was measured using the enzyme-linked immunosorbent assay technique. Results Preservation of the biceps brachii muscle trophism was found in the NMES treated group, along with prevention of interleukin-6 level reduction. Conclusion Spinal cord injury causes muscle atrophy and decreases interleukin-6 levels. These alterations are partially prevented by NMES. The results suggest a possible NMES action mechanism and underscore the clinical use of this therapeutic tool.

Resumo Objetivo Analisar o trofismo muscular e a de interleucina-6 no músculo bíceps braquial de ratas com lesão medular cervical incompleta tratados com estimulação elétrica neuromuscular (EENM). Métodos Ratas adultas foram submetidas à hemissecção da medula espinal em C5-C7 e a um protocolo de EENM de 5 semanas. O trofismo do bíceps braquial foi avaliado pela relação peso muscular/peso corporal e análise histológica. A expressão de interleucina-6 no bíceps braquial foi medida usando ensaio de imunoabsorção enzimática. Resultados O grupo tratado com EENM apresentou preservação do trofismo muscular, assim como prevenção da redução dos níveis de interleucina-6. Conclusão A lesão da medula espinal causa atrofia muscular e diminui a expressão de interleucina-6. Essas alterações são parcialmente prevenidas pela EENM. Os resultados sugerem um possível mecanismo de ação da EENM e ressaltam o uso clínico desta ferramenta terapêutica.

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Abstract Neuromuscular diseases (NMD) include a broad group of medical conditions with both acquired and genetic causes. In recent years, important advances have been made in the treatment of genetically caused NMD, and most of these advances are due to the implementation of therapies aimed at gene regulation. Among these therapies, gene replacement, small interfering RNA (siRNA), and antisense antinucleotides are the most promising approaches. More importantly, some of these therapies have already gained regulatory approval or are in the final stages of approval. The review focuses on motor neuron diseases, neuropathies, and Duchenne muscular dystrophy, summarizing the most recent developments in gene-based therapies for these conditions.

Resumo Doenças neuromusculares (DNM) compõem um grupo amplo de doenças de causa tanto adquiridas quanto genéticas. Nos últimos anos, importantes avanços ocorreram quanto ao tratamento das DNM de causa genética e grande parte desses avanços se deve à implementação de terapias voltadas para a modificação gênica. Dentre essas terapias, destacam-se as terapias de reposição gênica, uso de RNA de interferência, uso de antinucleotídeos antisense, entre outras. E, mais importante, algumas dessas terapias já se tornaram realidade na prática médica e já foram aprovadas, ou estão a poucos passos da aprovação, por órgãos governamentais regulatórios. Esta revisão aborda aspectos mais recentes quanto ao uso das terapias genéticas avançadas para algumas das formas mais comuns de DNM, em especial para doenças do neurônio motor (esclerose lateral amiotrófica e atrofia muscular espinhal), neuropatias e distrofia muscular de Duchenne.

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Abstract After more than 200 years since its initial description, the clinical diagnosis of Parkinson's disease (PD) remains an often-challenging endeavor, with broad implications that are fundamental for clinical management. Despite major developments in understanding it's pathogenesis, pathological landmarks, non-motor features and potential paraclinical clues, the most accepted diagnostic criteria remain solidly based on a combination of clinical signs. Here, we review this process, discussing its history, clinical criteria, differential diagnoses, ancillary diagnostic testing, and the role of non-motor and pre-motor signs and symptoms.

Resumo Passados mais de 200 anos desde a sua descrição inicial, o diagnóstico clínico da doença de Parkinson (DP) continua a ser um processo muitas vezes desafiante, com amplas implicações que são fundamentais para o manejo clínico. Apesar dos grandes desenvolvimentos na compreensão da sua patogénese, marcadores patológicos, características não motoras e potenciais pistas paraclínicas, os critérios diagnósticos mais aceitos permanecem solidamente baseados numa combinação de sinais clínicos motores. Aqui, revisamos esse processo, discutindo sua história, critérios clínicos, diagnósticos diferenciais, testes diagnósticos complementares e o papel dos sinais e sintomas não motores e pré-motores.

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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.

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Abstract Background The Hammersmith Functional Motor Scale Expanded (HFMSE) has been widely used to assess the motor function of patients with spinal muscular atrophy (SMA) older than 2 years, with the ability to sit and/or walk. Objective To translate, cross-culturally adapt and validate the HFMSE to Brazilian Portuguese. Methods The translation process and cross-cultural adaptation followed international guidelines recommendations. The reliability and applicability of the Brazilian version consisted of the application of the HFMSE (in Brazilian Portuguese) to 20 patients with types 2 and 3 SMA. Two examiners assessed the participants for interrater reliability, through the analysis of Kappa reliability agreement (k) and intraclass correlation coefficient (ICC). Results The HFMSE was successfully translated and cross culturally adapted to Brazilian Portuguese. Twenty participants with types 2 and 3 SMA were enrolled in the study (type 2 = 6; type 3 = 14). The ICC for the total score showed very high reliability (ICC =1.00), and the reliability of each of the items individually was considered excellent (Kappa > 0.80). Conclusion The Brazilian version of the HFMSE proved to be valid and reliable for the evaluation of SMA patients older than 2 years with the ability to sit and/or walk.

Resumo Antecedentes A Hammersmith Functional Motor Scale Expanded (HFMSE) tem sido amplamente utilizada para avaliar a função motora de pacientes com atrofia muscular espinhal (AME) maiores de dois anos, com capacidade de sentar e/ou andar. Objetivo Traduzir, adaptar transculturalmente e validar a HFMSE para o português brasileiro. Métodos A tradução e a adaptação transcultural seguiram as diretrizes internacionais. A confiabilidade e a aplicabilidade da versão brasileira consistiram na aplicação da HFMSE (em português brasileiro) em 20 pacientes com AME tipos 2 e 3. Dois examinadores avaliaram os participantes quanto à confiabilidade interexaminadores, por meio da análise da concordância de confiabilidade Kappa (k) e do coeficiente de correlação intraclasse (intraclass correlation coefficient [ICC]). Resultados O processo de tradução e adaptação transcultural da HFMSE para o português brasileiro foi concluído com sucesso. Vinte participantes com AME tipos 2 e 3 foram incluídos no estudo (tipo 2 = 6; tipo 3 = 14). O ICC para o escore total apresentou confiabilidade alta (ICC = 1.00) e a confiabilidade de cada um dos itens individualmente foi considerada excelente (K > 0,80). Conclusão A HFMSE (PT-BR) mostrou-se válida e confiável para a avaliação de pacientes com AME, com mais de dois anos de idade e com capacidade de sentar-se independentemente e/ou andar.

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ABSTRACT OBJECTIVE To investigate the costs and profile of patients who have filed a lawsuit against the Ministry of Health for the treatment of spinal muscular atrophy (SMA) with the onasemnogene abeparvovec (Zolgensma®). METHODS This is a cross-sectional, descriptive study with a census design, based on records of lawsuits filed against the Ministry of Health between January 2019 and September 2022. Data was requested from the Ministry of Health via the Access to Information Act. Information was extracted on the epidemiological profile of the beneficiaries of the lawsuits, as well as the expenses spent by the Ministry of Health in cases where the requests were granted. RESULTS 136 lawsuits were identified, of which 113 (83%) were favorable to patients at a cost of R$ 944.8 million in the period analyzed. Demographic (gender and age), clinical (SMA subtypes, use of ventilatory or nutritional support), and lawsuit (type of legal service) characteristics were not associated with the granting of lawsuits. Prior use of medication (nusinersena or ridisplam) was associated with the dismissal of lawsuits. Of the 113 lawsuits granted in favor of patients, only six (5.3%) would meet the criteria currently established by the National Committee for Health Technology Incorporation - Conitec (children up to six months without ventilatory and nutritional support). R$ 146 million was spent on supplying Zolgensma to children over the age of two, which is outside the recommendation contained in the drug's package leaflet. CONCLUSIONS The Ministry of Health incurs a high cost with the judicialization of Zolgensma for SMA, representing 2.45% of total spending on medicines in the Unified Health System, including spending by the three administrative spheres. Some of the lawsuits have been granted in disagreement with the criteria established by health technology assessment agencies and the drug manufacturer's recommendations.

RESUMO OBJETIVO Investigar os custos e o perfil dos pacientes que demandaram judicialmente o onasemnogene abeparvoveque (Zolgensma®) para o tratamento da atrofia muscular espinhal (AME) no Ministério da Saúde. MÉTODOS Estudo transversal, de natureza descritiva e desenho censitário, com base em registros de ações judiciais movidas contra o Ministério da Saúde no período de janeiro de 2019 a setembro de 2022. Os dados foram solicitados ao Ministério da Saúde, via Lei de Acesso à Informação. Foram extraídas informações sobre o perfil epidemiológico dos beneficiários das ações judiciais, bem como os gastos dispendidos pelo Ministério da Saúde nos casos de deferimento das solicitações. RESULTADOS Foram identificados 136 processos judiciais, dos quais 113 (83%) foram favoráveis aos pacientes ao custo de R$ 944,8 milhões no período analisado. Características demográficas (sexo e idade), clínicas (subtipos da AME, uso de suporte ventilatório ou nutricional) e do processo judicial (tipo de serviço advocatício) não foram associadas com o deferimento das ações judiciais. O uso prévio de medicamento (nusinersena ou ridisplam) foi associado com o indeferimento dos processos judiciais. Das 113 ações judiciais concedidas em favor dos pacientes, apenas seis (5,3%) atenderiam aos critérios estabelecidos atualmente pela Comissão Nacional de Incorporação de Tecnologias - Conitec (crianças com até seis meses sem suporte ventilatório e nutricional). Houve dispêndio de R$ 146 milhões com o fornecimento do Zolgensma para crianças com idade superior a dois anos, que está fora da recomendação contida na bula do medicamento. CONCLUSÕES O Ministério da Saúde incorre em um alto custo com a judicialização do Zolgensma para AME, representando 2,45% do gasto total com medicamentos no Sistema Único de Saúde, incluindo gastos das três esferas administrativas. Parte das demandas judiciais tem sido deferida em divergência com os critérios estabelecidos por agências de avaliação de tecnologias em saúde e recomendações do fabricante do medicamento.

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Resumen El adenocarcinoma gástrico se asocia con la infección por Helicobacter pylori. La transición a un proceso de carcinogénesis está precedida por atrofia glandular, y los niveles séricos de pepsinógeno I y II (PGI y PGII) se correlacionan con este tipo de lesiones gástricas. El objetivo del trabajo fue estudiar posibles asociaciones de los niveles de pepsinógenos (PG) en suero en relación con la frecuencia de actividad serológica hacia antígenos de H. pylori. Se utilizaron muestras de suero de pacientes con patología gástrica asociada a H. pylori (n = 26) y de individuos asintomáticos como controles (n = 37). Los antígenos seroactivos se identificaron mediante inmunoblot utilizando un extracto proteico de H. pylori. Los títulos de anticuerpos anti-H. pylori y la concentración de PG en suero se determinaron por ELISA. De los 31 antígenos seroactivos identificados, 9 presentaron una frecuencia diferencial entre ambos grupos (116,7; 68,8; 61,9; 54,9; 45,6; 38,3; 36,5; 33,8 y 30,1 kDa) y solo 3 se relacionaron con niveles alterados de PG en suero. En el grupo control, la seropositividad del antígeno de 33,8 kDa se relacionó con un aumento de PGII, mientras que el antígeno de 68,8kDa se relacionó con valores normales de PG (PGII disminuido y PGI/PGII elevado), sugiriendo que la seropositividad a este antígeno podría ser un factor protector frente a patologías gástricas. La seropositividad del antígeno de 54,9 kDa se relacionó con valores alterados de PG indicadores de inflamación y atrofia gástrica (aumento de PGII y disminución de PGI/PGII). La identificación de alteraciones séricas en los niveles de pepsinógeno relacionadas con la seropositividad a los antígenos de 33,8; 54,9 y 68,8 kDa de H. pylori sienta un precedente para futuros estudios como posibles biomarcadores serológicos pronósticos.

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ABSTRACT Background: Gastric atrophy (GA) and intestinal metaplasia (IM) are early stages in the development of gastric cancer. Evaluations are based on the Updated Sydney System, which includes a biopsy of the incisura angularis (IA), and the Operative Link on Gastritis Assessment (OLGA) and Operative Link on Gastritis Assessment using Intestinal Metaplasia (OLGIM) gastric cancer risk staging systems. Objective: To compare the OLGA and OLGIM classifications with and without IA biopsy. In addition, to determine the prevalence of Helicobacter pylori (HP) and pre-neoplastic changes (GA and IM) in different biopsied regions and to identify the exclusive findings of IA. Methods: Observational, prospective, descriptive, unicentric study with 350 patients without a diagnosis of gastric cancer, who underwent upper digestive endoscopy with biopsies at Gastroclínica Itajaí, from March 2020 to May 2022. The histopathological classification of gastritis followed the Updated Sydney System, and the gastric cancer risk assessment followed the OLGA and OLGIM systems. The methodology applied evaluated the scores of the OLGA and OLGIM systems with and without the assessment of the IA biopsy. Statistical analysis was performed using descriptive measures (frequencies, percentages, mean, standard deviation, 95% confidence interval). Ranks were compared using the Kruskal-Wallis or Wilcoxon tests. To analyze the relationship between the frequencies, the bilateral Fisher's exact test was used. Wilson's score with continuity correction was applied to the confidence interval. Results: The median age was 54.7 years, with 52.57% female and 47.43% male patients. The comparison between the used biopsies protocol (corpus + antrum [CA] vs corpus + antrum + incisura angularis [CAI]) and the OLGA and OLGIM stages showed a significant decrease in both staging systems when the biopsy protocol restricted to the corpus and antrum was applied (OLGA CAI vs CA; P=0.008 / OLGIM CAI vs CA; P=0.002). The prevalence of pre-malignant lesions (GA, IM and dysplasia) of the gastric mucosa was (33.4%, 34% and 1.1%, respectively) in the total sample. The antrum region exhibited significantly higher numbers of alteration (P<0.001), except for HP infection, which was present in 24.8% of the patients. Conclusion: Incisura angularis biopsy is important because it increased the number of cases diagnosed in more advanced stages of intestinal metaplasia and atrophy. The study had limitations, with the main one being the relatively small sample size, consisting mostly of healthy individuals, although mostly elderly.

RESUMO Contexto: A atrofia gástrica (AG) e a metaplasia intestinal (MI) são estágios iniciais do desenvolvimento do câncer gástrico. As avaliações são baseadas no Sistema de Sydney Atualizado, que inclui uma biópsia da incisura angular (IA), e nos sistemas de estadiamento de risco de câncer gástrico Operative Link on Gastritis Assessment (OLGA) e Operative Link on Gastritis Assessment using Intestinal Metaplasia (OLGIM). Objetivo: Comparar as classificações OLGA e OLGIM com e sem biópsia da IA. Além disso, determinar a prevalência de Helicobacter pylori (HP) e alterações pré-neoplásicas (AG e MI) em diferentes regiões biopsiadas e identificar os achados exclusivos da IA. Métodos: Estudo observacional, prospectivo, descritivo, unicêntrico, com 350 pacientes sem diagnóstico de câncer gástrico, submetidos à endoscopia digestiva alta com biópsias na Gastroclínica Itajaí, no período de março de 2020 a maio de 2022. A classificação histopatológica da gastrite seguiu o Sistema de Sydney Atualizado, e a avaliação do risco de câncer gástrico seguiu os sistemas OLGA e OLGIM. A metodologia aplicada avaliou os escores dos sistemas OLGA e OLGIM com e sem a avaliação da biópsia da IA. A análise estatística foi realizada por meio de medidas descritivas (frequências, porcentagens, média, desvio padrão, intervalo de confiança de 95%). As classificações foram comparadas usando os testes de Kruskal-Wallis ou Wilcoxon. Para analisar a relação entre as frequências, foi usado o teste exato de Fisher bilateral. O escore de Wilson com correção de continuidade foi aplicado ao intervalo de confiança. Resultados: A idade média foi de 54.7 anos, com 52.57% de pacientes do sexo feminino e 47.43% do sexo masculino. A comparação entre o protocolo de biópsias utilizado (corpo + antro [CA] vs corpo + antro + incisura angular [CAI]) e os estágios OLGA e OLGIM mostrou uma diminuição significativa em ambos os sistemas de estadiamento quando o protocolo de biópsia restrito ao corpo e ao antro foi aplicado (OLGA CAI vs CA; P=0.008 / OLGIM CAI vs CA; P=0.002). A prevalência de lesões pré-malignas (GA, MI e displasia) da mucosa gástrica foi de (33.4%, 34% e 1.1%, respectivamente) na amostra total. A região do antro exibiu um número significativamente maior de alterações (P<0.001), com exceção da infecção por HP, que estava presente em 24.8% dos pacientes. Conclusão: A biópsia de IA é importante porque aumentou o número de casos diagnosticados em estágios mais avançados de MI e AG. O estudo teve limitações, sendo a principal delas o tamanho relativamente pequeno da amostra, composta principalmente por indivíduos saudáveis, embora em sua maioria idosos.

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Abstract Background Spinal muscular atrophy (SMA) is a rare genetic disease that causes progressive muscle weakness and impacts motor function. The type I is the most severe presentation and affects infants before 6 months old. In addition, the instruments available for assessing motor function have limitations when applied to infants with neuromuscular diseases and significant muscle weakness. Objective To translate, cross-culturally adapt, and validate the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) to Brazilian Portuguese. Methods The present study comprised the translation, synthesis of translations, backtranslation, consolidation by a committee of experts, and test of the final version of the CHOP INTEND in 13 patients with SMA type I. We also assessed the content validity and reliability of the translated version. Results The scale was translated considering semantic, structural, idiomatic, and cultural aspects. All agreement rates were > 0.8, the overall content validity index of the instrument was 0.98, and inter-rater reliability using the intraclass correlation coefficient was 0.998. Conclusion The Brazilian version of the CHOP INTEND met semantic and technical equivalence criteria with the original version and was valid and reliable for patients with SMA type I.

Resumo Antecedentes A atrofia muscular espinhal (AME) é uma doença genética rara que provoca fraqueza muscular progressiva com impacto sobre a motricidade dos pacientes. A AME tipo I é considerada o tipo mais grave e acomete lactentes antes dos 6 meses de idade. As escalas disponíveis para avaliação das aquisições motoras mostram limitações para uso com crianças pequenas com doenças neuromusculares e fraqueza importante. Objetivo Realizar a tradução, adaptação transcultural e validação para a língua portuguesa do Brasil da Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND, na sigla em inglês). Métodos O presente estudo seguiu as etapas de tradução, síntese das traduções, retrotradução, consolidação por comitê de especialistas e teste com 13 pacientes com AME tipo 1. Foi avaliada a validade de conteúdo e a confiabilidade do instrumento. Resultados A escala foi traduzida considerando os aspectos semânticos, estruturais, idiomáticos e culturais. Todas as taxas de concordância foram > 0,8. O índice de validade de conteúdo geral do instrumento foi de 0,98. A confiabilidade interavaliadores analisada através do coeficiente de correlação intraclasse (ICC, na sigla em inglês) demonstrou um valor de ICC = 0,998. Conclusão A versão da CHOP INTEND em português atende aos critérios de equivalência semântica e técnica em relação à versão original e apresenta validade de conteúdo e confiabilidade para seu uso na população de pacientes com AME tipo I.

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Aim: To establish the relationship between consuming foods considered risk factors for gastric cancer and trophic changes in gastric mucosa. Materials and methods: Cross-sectional study. We included patients older than 18 admitted for upper GI endoscopy with biopsies who adequately answered a survey of personal history and eating habits. Those with a history of gastric cancer or gastric surgical resection for any reason were excluded. The association between feeding variables and trophic changes in the gastric mucosa was estimated. Results: In a population of 1,096 patients, the average age was 51 years (standard deviation [SD]: 15.5), and 59% were women. Trophic changes in the gastric mucosa were identified in 173 patients (15.8%). No statistical association was found between the independent variables of eating habits, obesity, and positive Helicobacter pylori versus the variable "trophic changes," unlike the variable "family history of gastric cancer" (odds ratio [OR]: 1.49 95% confidence interval [CI]: 1.03-2.17, p = 0.036). One case of high-grade dysplasia was detected in the study population (0.91 cases in 1,000 patients). Conclusions: No association was established between eating habits and trophic changes in the gastric mucosa in the studied population. A family history of gastric cancer is a statistically significant risk factor for developing atrophy, metaplasia, or dysplasia changes.

Objetivo: establecer la relación entre el consumo de alimentos considerados como factores de riesgo para cáncer gástrico y la presencia de cambios tróficos de la mucosa gástrica. Materiales y métodos: estudio de corte transversal. Se incluyeron los pacientes mayores de 18 años admitidos para realización de endoscopia digestiva superior con toma de biopsias que respondieron adecuadamente una encuesta de antecedentes personales y hábitos de alimentación. Se excluyeron aquellos con antecedente de cáncer gástrico o resección quirúrgica gástrica por cualquier motivo. Se estimó la asociación entre las variables de alimentación y la presencia de cambios tróficos de la mucosa gástrica. Resultados: en una población de 1096 pacientes, el promedio de la edad fue 51 años (desviación estándar [DE]: 15,5), y correspondió en un 59% a mujeres. Se identificaron cambios tróficos de la mucosa gástrica en 173 pacientes (15,8%). No se obtuvo asociación estadística entre las variables independientes de hábitos de alimentación, obesidad y Helicobacter pylori positivo frente a la variable "cambios tróficos", a diferencia de la variable "antecedente familiar de cáncer gástrico" (odds ratio [OR]: 1,49; intervalo de confianza [IC] 95%: 1,03-2,17; p = 0,036). Se obtuvo 1 caso de displasia de alto grado en la población estudiada (0,91 casos en 1000 pacientes). Conclusiones: no se estableció una asociación entre los hábitos de alimentación y la presencia de cambios tróficos de la mucosa gástrica en la población estudiada. El antecedente familiar de cáncer gástrico se muestra como un factor de riesgo estadísticamente significativo para el desarrollo de cambios de atrofia, metaplasia o displasia.

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INTRODUCCIÓN: La ecografía muscular es una herramienta válida para monitorizar la pérdida de masa muscular de personas críticamente enfermas. El nivel de experiencia es clave para la precisión de las mediciones. Objetivo: Evaluar la confiabilidad interobservador de evaluadores experimentados y novatos midiendo grosor y eco-intensidad del cuádriceps y tibial anterior. Métodos: Estudio observacional transversal. Participaron 24 kinesiólogos de cuidados críticos; 5 experimentados (> 4 años de experiencia ecográfica) y 19 novatos (sin experiencia previa, por lo que recibieron entrenamiento de 16 horas). De forma estandarizada, cada evaluador midió ecográficamente el grosor (centímetros) del cuádriceps y tibial anterior de 10 modelos sanos y jóvenes usando equipos portátiles (transductores lineales y convexos). Se calculó el Coeficiente de Correlación Intraclase y el Cambio Mínimo Detectable (95% intervalo de confianza). Además, los novatos calificaron la eco-intensidad de 19 ecografías musculares de personas críticamente enfermas con la escala Heckmatt (calificación visual cualitativa) y se midió el acuerdo con los experimentados (Spearman Rho). RESULTADOS: Se realizaron 960 mediciones de grosor muscular (experimentados = 200 y novatos = 760). La media del grosor del cuádriceps y tibial anterior fue 4,4 ± 0,77 y 2,4 ± 0,35 centímetros para los experimentados y 4,2 ± 0,80 y 2,2 ± 0,39 centímetros para los novatos, respectivamente. La confiabilidad de cuádriceps y tibial anterior fue 0,82 y 0,86 para los experimentados y 0,76 y 0,41 para los novatos. El Cambio Mínimo Detectable osciló entre 0,14-0,33 centímetros. La puntuación media de Heckmatt fue 2,6 ± 0,83 puntos, con una confiabilidad de 0,68 y una concordancia con los experimentados de 0,78 [p < 0,001]. CONCLUSIONES: La confiabilidad interobservador de los experimentados fue excelente y la de los novatos moderada a buena. El nivel de experiencia podría determinar los resultados de confiabilidad.

BACKGROUND: Muscle ultrasound is a valid tool to monitor muscle mass loss in critically ill patients. The level of experience is essential to the accuracy of the measurements. Aim: To evaluate the interobserver reliability of experienced and novice raters measuring muscle thickness and echo intensity of the quadriceps and tibialis anterior. MATERIAL AND METHODS: Cross-sectional observational study. Twenty-four critical care physiotherapists participated (5 experienced and 19 novice). Following a standardized ultrasound protocol, each rater measured the thickness (centimeters) of the quadriceps and tibialis anterior of 10 healthy and young models using linear and convex probes of portable devices. The Intraclass Correlation Coefficient and the Minimal Detectable Change (95% confidence interval) were calculated. Additionally, the novices scored the echo intensity of 19 muscle ultrasound images of critically ill patients using the Heckmatt score (qualitative assessment). The agreement with experienced raters was evaluated (Spearman Rho). Results: 960 muscle thickness measurements were performed (experienced = 200 and novice = 760). The mean thickness of the quadriceps and tibialis anterior was 4.4 ± 0.77 and 2.4 ± 0.35 centimeters for the experienced and 4.2 ± 0.80 and 2.2 ± 0.39 centimeters for the novices, respectively. Quadriceps' and tibialis' anterior reliability were 0.82 and 0.86 for experienced and 0.76 and 0.41 for novices, respectively. The Minimal Detectable Change ranged from 0.14-0.33 centimeters. The mean Heckmatt score was 2.6 ± 0.83 points, with a reliability of 0.68 and an agreement with the experimenters of 0.78 [p < 0.001]. CONCLUSIONS: Interobserver reliability was excellent for experienced raters and moderate to good for novice raters. The level of experience could determine the reliability of the results.

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La atrofodermia idiopática de Pasini y Pierini es una entidad poco frecuente y de etiología aún no esclarecida, se presenta con una frecuencia hasta seis veces mayor en mujeres que en hombres y una posible asociación con la esclerodermia localizada (morfea). Paciente femenina de 30 años, quien consultó por una lesión asintomática de dos años de evolución en el glúteo izquierdo. En el examen físico se evidenció una placa ovalada, deprimida y acrómica en su centro, que mide cinco por diez centímetros. La paciente había sido tratada previamente con múltiples terapias tópicas sin obtener mejoría clínica. Se realizó la biopsia de piel que demostraba cambios mínimos en epidermis, homogenización y adelgazamiento de colágeno sin afección de anexos. Se hizo correlación con los hallazgos clínicos y se decidió iniciar tratamiento con esteroides intralesionales de alta potencia (acetónido de triamcinolona). Posterior a la administración de dos aplicaciones del medicamento, con cuatro semanas de diferencia entre ellas, se evidenció la resolución completa de la dermatosis. Un mes después de la última dosis la paciente no mostró recidivas

diopathic atrophoderma of Pasini and Pierini is a rare entity of unclear etiology, occurring as much as six times more frequently in women than in men, with a possible association with localized scleroderma (morphea). It is about a 30 years old woman who consulted with an asymptomatic lesion of two years of evolution on the left gluteal region. Physical examination revealed an oval plaque, depressed and acromic in its center, measuring five by ten centimeters. A 30 years old female patient who consulted about an asymptomatic lesion of two years of evolution on the left gluteal region. Physical examination revealed an oval plaque, depressed and acromic in its center, measuring five by ten centimeters. The patient was previously treated with multiple topical therapies without clinical improvement.Skin biopsy showed minimal changes in the epidermis, homogenization, and thinning of the collagen without adnexal involvement. After a correlation was made with the clinical findings, starting treatment with high-potency intralesional steroids (triamcinolone acetonide) was recommended. After administering two applications of the drug, four weeks apart, the complete resolution of the dermatosis was evidenced. One month after the last dose, the patient showed no recurrence

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Gastric adenocarcinoma is associated with Helicobacter pylori infection. The transition to a carcinogenic process is preceded by glandular atrophy and serum levels of pepsinogen I and II (PGI and PGII) correlate with this type of gastric lesions. Possible associations of serum PG levels in relation to the frequency of serological activity against H. pylori antigens were studied. Serum samples from patients with gastric pathology associated with H. pylori (n=26) and asymptomatic individuals as controls (n=37) were used. Seroactive antigens were identified by immunoblot using a protein extract of H. pylori. The antibody titers anti-H. pylori and the concentration of PGs in serum was determined by ELISA. Thirty-one seroactive antigens were identified, nine of which exhibited a differential frequency between both groups (116.7, 68.8, 61.9, 54.9, 45.6, 38.3, 36.5, 33.8 and 30.1kDa) and only 3 were related to altered levels of PGs in serum. In the control group, the seropositivity of the 33.8kDa antigen was related to an increase in PGII, while the 68.8kDa antigen was related to normal PG values (decreased PGII and elevated PGI/PGII levels) indicating that seropositivity to this antigen could be a protective factor to gastric pathology. The seropositivity of the 54.9kDa antigen was related to altered values of PGs indicative of inflammation and gastric atrophy (increased in PGII and decreased in PGI/PGII). The identification of serum alterations in pepsinogen levels related to seropositivity to H. pylori 33.8, 54.9 and 68.8kDa antigens sets a precedent for further study as possible prognostic serological biomarkers.

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