Anestesia para colocación de nusinersen intratecal en pacientes con atrofia muscular espinal / Anesthesia for instillation of intratecal nusinersen in patients for muscular atrophy

We present a series of four patients diagnosed with Spinal Muscular Atrophy (SMA), 2 type II, 2 type III, for placement of spinal nusinersen/Spinraza under general anesthesia with propofol. This new treatment can improve the quality of life of these patients. Its management represents a challenge for anesthesiologists as they try to provide not only adequate general anesthesia but containment to adolescent or young patients. In particular, patients that need to enter into the operating room several times a year.

Presentamos una serie de 4 pacientes con diagnóstico de atrofia muscular espinal (AME) 2 tipo II y 2 tipo III, para colocación de nusinersen/Spinraza raquídeo bajo anestesia general con propofol. Este nuevo tratamiento puede mejorar la calidad de vida de los pacientes. Su manejo representa un desafío para los anestesiólogos que intentamos brindar no solo una adecuada anestesia general sino contención a pacientes adolescentes o jóvenes que necesitan ingresar al quirófano varias veces al año.

Spinal muscular atrophy 5Q - Treatment with nusinersen

The Guidelines Project, an initiative of the Brazilian Medical Association, aims to combine information from the medical field in order to standardize producers to assist the reasoning and decision-making of doctors. The information provided through this project must be assessed and criticized by the physician responsible for the conduct that will be adopted, depending on the conditions and the clinical status of each patient.

Therapeutic advances in 5q-linked spinal muscular atrophy / Avanços terapêuticos na atrofia muscular espinhal ligada ao cromossomo 5q

ABSTRACT Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However, promising specific therapies are currently being developed based on different mechanisms to increase the level of SMN protein; in particular, intrathecal antisense oligonucleotides that prevent the skipping of exon 7 during SMN2 transcription, and intravenous SMN1 insertion using viral vector. These therapeutic perspectives open a new era in the natural history of the disease. In this review, we intend to discuss the most recent and promising therapeutic strategies, with special consideration to the pathogenesis of the disease and the mechanisms of action of such therapies.

RESUMO A atrofia muscular espinhal (AME) é uma grave doença dos neurônios motores, de grande variabilidade clínica e causada na maioria dos casos por mutação em homozigose no gene SMN1. Pelo menos quatro fenótipos clínicos distintos são reconhecidos com base na idade de início e no grau de envolvimento motor. Tal variabilidade clínica é em parte relacionada com o número de cópias do gene SMN2. Até recentemente, apenas terapias de suporte estavam disponíveis. Atualmente, terapias especificas estão sendo desenvolvidas com base em diferentes mecanismos para aumentar o nível de proteína SMN; em particular oligonucleotídeos antissenso por via intratecal e inserção de cópia do gene SMN1, via endovenosa, usando vetor viral. Nesta revisão, objetivamos discutir as mais recentes e promissoras estratégias terapêuticas, com consideração especial aos aspectos patogênicos da doença e aos mecanismos de ação de tais terapias.

Efficacy and Safety of an Oral SMAD7 Antisense Drug for Active Crohn's Disease / 대한소화기학회지

No abstract available.

Brazilian Portuguese version of the Patient Competency Rating Scale (PCRS-R-BR): semantic adaptation and validity / Versão em português brasileiro da Patient Competency Rating Scale (PCRS-R-BR): adaptação semântica e validade

This study describes the adaptation of a revised Brazilian version of the Patient Competency Rating Scale (PCRS-R-BR), which focuses on executive, mnemonic, and attention functions. Evidence of content-based and external validity is also reported. The cross-cultural adaptation was conducted in five phases: 1) translations and back translations; 2) item analysis by authors; 3) classification by experts; 4) revisions and reformulations by authors; 5) pilot study with a sample of patients with mild and moderate/severe traumatic brain injury (TBI). Data were analyzed descriptively, and the PCRS-R-BR scores of groups with mild vs. moderate/severe TBI were compared using the Mann-Whitney test. Patients and their relatives were divided into groups and compared using repeated-measures analysis. The results of the PCRS-R-BR questionnaire for relatives and discrepancy scores of patients with moderate/severe TBI revealed significantly more impairment than that found in the group of patients with mild TBI. There were significant differences between item and total scores of both groups of patients and relatives. Results indicated a high level of item content agreement between experts. This study found initial evidence of PCRS-R-BR content-based and external validity when the questionnaire was applied to patients with mild and moderate/severe TBI and their relatives.

O presente artigo teve como objetivo apresentar a adaptação transcultural e evidências de validade externa e de conteúdo da versão brasileira revisada da Patient Competency Rating Scale (PCRS-R-BR), com foco nas funções executivas, mnemônicas e atencionais. A adaptação transcultural incluiu cinco fases: 1) tradução e retrotradução; 2) análise de itens por autores; 3) análise de especialistas; 4) revisões e reformulações dos autores; 5) estudo piloto em pacientes com traumatismo cranioencefálico (TCE) leve e moderado/grave. Os dados foram analisados descritivamente e os pacientes com TCE leve e moderado/grave foram comparados nos escores da PCRS-R-BR pelo teste Mann-Whitney. Os pacientes e familiares foram comparados por grupo através da análise de medidas repetidas. Os pacientes com TCE moderado/grave tiveram maior prejuízo que os pacientes com TCE leve no formulário da PCRS-R-BR dos familiares e no escore de discrepância entre pacientes e familiares. Os resultados indicam bons e altos níveis de concordância entre especialistas frente aos componentes avaliados pelos itens. Esse estudo apresentou evidências iniciais de validade de conteúdo da PCRS-R-BR para pacientes com TCE leve e moderado/severo e seus familiares.