Survival and quality of life for patients affected by spinal muscular atrophy (SMA) are thought to have improved over the last decade due to changes in care. In addition, targeted treatments for SMA ...have been developed based on a better understanding of the molecular pathology. In 2016 and 2017, nusinersen was the first drug to be approved for treatment of all types of SMA in the United States and in Europe based on well-controlled clinical trials in a small subgroup of pediatric SMA patients. Systems are required to monitor treated and untreated SMA patients in a real-life environment to optimize treatment and care, and to provide outcome data to regulators, payers, and the SMA community.
Within SMArtCARE, we conduct a prospective, multicenter non-randomized registration and outcome study. SMArtCARE collects longitudinal data on all available SMA patients independent of their actual treatment regime as disease-specific SMA registry. For this purpose, we provide an online platform for SMA patients seen by health-care providers in Germany, Austria and Switzerland. All data are collected during routine patient visits. Items for data collection are aligned with the international consensus for SMA registries. Data analysis is carried out independent of commercial partners.
A prospective monitoring of all SMA patients will lead to a better understanding of the natural history of SMA and the influence of drug treatment. This is crucial to improve the care of SMA patients. Further, we will establish a network for neuromuscular centers to share experience with SMA patients and to promote research projects on SMA.
German Clinical Trials Register ("Deutsches Register klinischer Studien") DRKS00012699. Registered 09 August 2018. https://www.drks.de/drks_web/navigate.do?navigationId=trial.HTML&TRIAL_ID=DRKS00012699 .
to analyze factors associated with Apgar of 5 minutes less than 7 of newborns of women selected for care at the Center for Normal Birth (ANC).
a descriptive cross-sectional study with data from 9,135 ...newborns collected between July 2001 and December 2012. The analysis used absolute and relative frequency frequencies and bivariate analysis using Pearson's chi-square test or the exact Fisher.
fifty-three newborns (0.6%) had Apgar less than 7 in the 5th minute. The multivariate analysis found a positive association between low Apgar and gestational age less than 37 weeks, gestational pathologies and intercurrences in labor. The presence of the companion was a protective factor.
the Normal Birth Center is a viable option for newborns of low risk women as long as the protocol for screening low-risk women is followed.
assess the implementation of actions to prevent vertical transmission of HIV.
a retrospective cohort study conducted in two maternity hospitals in the city of Montes Claros, State of Minas Gerais. ...All women admitted for childbirth diagnosed with HIV and their respective newborns were included from 2014 to 2017. Data were collected from medical records and analyzed descriptively.
population consisted of 46 pairs of mothers and newborns. Management was considered inadequate in 30 cases of parturient/postpartum women (65.2%) and 14 cases of newborns (30.4%). The main reasons for inadequate maternal management were lack of pharmacological inhibition of lactation (53.3%) and counseling/consent for HIV testing (43.3%). For newborns, late onsetoffirst dose ofZidovudine (50.0%) and no prescriptionofNevirapine (28.6%).
important prevention opportunities were missed, pointing to the need for improved care.
OBJETIVO Comparar os modelos colaborativo e tradicional na assistência ao parto e nascimento. MÉTODOS Estudo transversal realizado com 655 primíparas em quatro hospitais do sistema único de saúde em ...Belo Horizonte, MG, em 2011 (333 mulheres do modelo colaborativo e 322 do modelo tradicional, incluindo aquelas com trabalho de parto induzido e prematuro). Os dados foram coletados em entrevistas e levantamento de prontuários. Foram aplicados os testes Qui-quadrado para comparação e regressão logística múltipla para determinar associação entre o modelo e os desfechos analisados. RESULTADOS Houve diferenças significativas entre os modelos em relação ao nível de escolaridade e trabalho remunerado. No modelo colaborativo houve menor utilização da ocitocina (50,2% no modelo colaborativo versus 65,5% no modelo tradicional; p < 0,001), da ruptura artificial das membranas (54,3% no modelo colaborativo versus 65,9% no modelo tradicional; p = 0,012) e da taxa de episiotomia (16,1% no modelo colaborativo versus 85,2% no modelo tradicional; p < 0,001), e maior utilização de métodos não farmacológicos para alívio da dor (85,0% no modelo colaborativo versus 78,9% no modelo tradicional; p = 0,042). A associação entre o modelo colaborativo e a redução no uso da ocitocina, da ruptura artificial das membranas e da episiotomia manteve-se após o ajuste para fatores de confundimento. O modelo assistencial não esteve associado a complicações neonatais ou maternas nem à utilização de analgesia de condução. CONCLUSÕES Os resultados sugerem que o modelo colaborativo poderá reduzir as intervenções na assistência ao trabalho de parto e parto com resultados perinatais semelhantes.
Objective: to verify the association between maternal and neonatal factors and the Apgar score <7 at five minutes of life. Methods: cross-sectional study with 134 newborns. For the analysis of the ...data collected through an instrument developed by the researchers, we used the description of the absolute and relative frequencies and applied the Chi-square or Fisher’s exact tests. Results: of the total number of newborns, 63.0% had primigravida mother, 56.0% were male, 79.0% had been born from normal delivery, 65.0% had required oxygen and 45.0% had been resuscitated in the delivery room. Among women, 71.0% had made use of oxytocin. Conclusion: use of oxytocin, oxygen and resuscitation in the delivery room showed a significant association with Apgar <7 at five minutes of life. Birth weight, rupture membrane time, meconium clearance, type of delivery, and parity were not related to the low Apgar score.
Objetivo: verificar associação entre fatores maternos e neonatais e o índice de Apgar <7 aos cinco minutos de vida. Métodos: estudo transversal com 134 recém-nascidos. Para análise dos dados coletados com instrumento elaborado pelos pesquisadores, utilizou-se a descrição das frequências absolutas e relativas e a aplicação dos testes Qui-quadrado ou exato de Fisher. Resultados: do total de recém-nascidos, 63,0% tinham mãe primigesta, 56,0% eram do sexo masculino, 79,0% nasceram de parto normal, 65,0% demandaram oxigênio e 45,0% foram reanimados na sala de parto. Entre as mulheres, 71,0% utilizaram ocitocina. Conclusão: uso de ocitocina, oxigênio e reanimação em sala de parto mostraram associação significativa com Apgar <7 aos cinco minutos de vida. Peso ao nascer, tempo de bolsa rota, eliminação de mecônio, tipo de parto e paridade não se relacionaram ao baixo valor de Apgar.
Objetivo: identificar a percepção da mulher surda quanto aos cuidados de enfermagem durante a gestação, parto e puerpério. Método: trata-se de um estudo descritivo, com abordagem qualitativa, ...realizada com nove mulheres surdas de uma cidade do norte de Minas Gerais. Utilizou-se uma entrevista semiestruturada na qual o tratamento dos dados se deu por meio da Análise de Conteúdo. Resultados: as mulheres surdas enfrentaram dificuldades na assistência prestada pela equipe de enfermagem durante o período perinatal devido a fatores como: despreparo dos profissionais quanto ao uso da linguagem de sinais; ausência de intérpretes nos serviços; interlocutores que falam rápido demais; e uso de máscaras pelos profissionais, dificultando a leitura labial. Conclusão: a barreira de comunicação é verificada na interação entre surdas e profissionais de saúde, tornando-se indispensável que ambos encontrem formas de interagir para garantir uma assistência de melhor qualidade.
5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of a proximal muscle weakness. Three different drugs have been approved by the European Medicines ...Agency and Food and Drug Administration for the treatment of spinal muscular atrophy patients, however, long-term experience is still scarce. In contrast to clinical trial data with restricted patient populations and short observation periods, we report here real-world evidence on a broad spectrum of patients with early-onset spinal muscular atrophy treated with nusinersen focusing on effects regarding motor milestones, and respiratory and bulbar insufficiency during the first years of treatment. Within the SMArtCARE registry, all patients under treatment with nusinersen who never had the ability to sit independently before the start of treatment were identified for data analysis. The primary outcome of this analysis was the change in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders and motor milestones considering World Health Organization criteria. Further, we evaluated data on the need for ventilator support and tube feeding, and mortality. In total, 143 patients with early-onset spinal muscular atrophy were included in the data analysis with a follow-up period of up to 38 months. We observed major improvements in motor function evaluated with the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders. Improvements were greater in children >2 years of age at start of treatment than in older children. 24.5% of children gained the ability to sit independently. Major improvements were observed during the first 14 months of treatment. The need for intermittent ventilator support and tube feeding increased despite treatment with nusinersen. Our findings confirm the increasing real-world evidence that treatment with nusinersen has a dramatic influence on disease progression and survival in patients with early-onset spinal muscular atrophy. Major improvements in motor function are seen in children younger than 2 years at the start of treatment. Bulbar and respiratory function needs to be closely monitored, as these functions do not improve equivalent to motor function.
Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by muscle weakness and muscle atrophy. Nusinersen acts as a splicing modifier and has recently been approved for intrathecal ...treatment of SMA.
Prior to approval, nusinersen was provided to patients with SMA type 1 in Germany within an Expanded Access Program (EAP). In contrast to previous clinical trials, children of different age groups and different stages of the disease were treated with nusinersen.
We conducted a prospective, longitudinal data collection of patients treated with nusinersen within the EAP in seven neuromuscular centers in Germany. Standardized assessments including CHOP-INTEND and HINE-2 motor milestones were performed at baseline and 60 and 180 days after start of treatment.
Data from 61 SMA type 1 patients (mean age 21.08 months, range 1-93) were available for analysis. After six months of treatment, 47 children (77.0%) improved by ≥4 points in CHOP INTEND score. Mean change in CHOP INTEND score was 9.0±8.0 points. Nineteen patients (31.1%) improved by ≥2 points in HINE-2 motor milestones. Regression analysis revealed age at onset of treatment as major determinant of change in CHOP INTEND from baseline.
When analyzing a broad spectrum of SMA type 1 patients, many children showed an improvement of motor function after six months of treatment with nusinersen, which is generally not expected within the natural course of the disease. Long-term observation and follow-up of patients with later onset types of SMA are crucial to understand the clinical impact of treatment with nusinersen.
Background and purpose
The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and ...therapeutic decision‐making remains challenging, underlining the persistent need for validated biomarkers.
Methods
We applied untargeted proteomic analyses to determine biomarkers in cerebrospinal fluid (CSF) samples of SMA patients under treatment with nusinersen. Identified candidate proteins were validated in CSF samples of SMA patients by Western blot and enzyme‐linked immunosorbent assay. Furthermore, levels of peripheral neurofilament heavy and light chain were determined.
Results
Untargeted proteomic analysis of CSF samples of three SMA type 1 patients revealed the lysosomal protease cathepsin D as a candidate biomarker. Subsequent validation analysis in a larger cohort of 31 pediatric SMA patients (type 1, n = 12; type 2, n = 9; type 3, n = 6; presymptomatically treated, n = 4; age = 0–16 years) revealed a significant decline of cathepsin D levels in SMA patients aged ≥2 months at the start of treatment. Although evident in all older age categories, this decline was only significant in the group of patients who showed a positive motor response. Moreover, downregulation of cathepsin D was evident in muscle biopsies of SMA patients.
Conclusions
We identified a decline of cathepsin D levels in CSF samples of SMA patients under nusinersen treatment that was more pronounced in the group of "treatment responders" than in "nonresponders." We believe that our results indicate a suitability of cathepsin D levels as a possible biomarker in SMA also in older patients, in combination with analysis of peripheral neurofilament light chain in adolescents or alone in adult patients.
Cathepsin D declines in cerebrospinal fluid of nusinersen‐treated spinal muscular atrophy (SMA) patients aged 2 months or older at start of therapy. The decline appears to be associated with response to treatment and indicates suitability as a prognostic biomarker in SMA.
Objetivo: compreender a percepção das puérperas sobre a assistência prestada durante o seu trabalho de parto e parto. Métodos: trata-se de uma pesquisa qualitativa, de caráter descritivo, ...desenvolvida de julho a agosto de 2021 na cidade de Montes Claros-MG. Participaram do estudo sete puérperas que receberam cuidados no parto e nascimento nesta unidade hospitalar, as respondentes incluídas na pesquisa foram aquelas que se submeteram a partos normais e cesáreos na maternidade desta instituição. Resultados: evidenciou-se que as entrevistadas apresentam percepção positiva em relação à assistência ao parto e nascimento do filho. Tal fato foi influenciado pelas práticas adotadas no serviço e os sentimentos vivenciados. Considerações Finais: a humanização das práticas pela instituição e pelos profissionais de saúde proporcionou uma assistência de qualidade para as mulheres. Diante disso, este estudo contribuiu para fortalecer conceitos importantes, e repensar sobre condutas que devem ser abandonadas pelos profissionais de saúde envolvidos no cuidado.
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