BACKGROUNDSpinal muscular atrophy is an autosomal recessive neuromuscular disorder that is caused by an insufficient level of survival motor neuron (SMN) protein. Nusinersen is an antisense oligonucleotide drug that modifies pre-messenger RNA splicing of the SMN2 gene and thus promotes increased production of full-length SMN protein. METHODSWe conducted a randomized, double-blind, sham-controlled, phase 3 efficacy and safety trial of nusinersen in infants with spinal muscular atrophy. The primary end points were a motor-milestone response (defined according to results on the Hammersmith Infant Neurological Examination) and event-free survival (time to death or the use of permanent assisted ventilation). Secondary end points included overall survival and subgroup analyses of event-free survival according to disease duration at screening. Only the first primary end point was tested in a prespecified interim analysis. To control the overall type I error rate at 0.05, a hierarchical testing strategy was used for the second primary end point and the secondary end points in the final analysis. RESULTSIn the interim analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (21 of 51 infants [41%] vs. 0 of 27 [0%], P<0.001), and this result prompted early termination of the trial. In the final analysis, a significantly higher percentage of infants in the nusinersen group than in the control group had a motor-milestone response (37 of 73 infants [51%] vs. 0 of 37 [0%]), and the likelihood of event-free survival was higher in the nusinersen group than in the control group (hazard ratio for death or the use of permanent assisted ventilation, 0.53; P = 0.005). The likelihood of overall survival was higher in the nusinersen group than in the control group (hazard ratio for death, 0.37; P = 0.004), and infants with a shorter disease duration at screening were more likely than those with a longer disease duration to benefit from nusinersen. The incidence and severity of adverse events were similar in the two groups. CONCLUSIONSAmong infants with spinal muscular atrophy, those who received nusinersen were more likely to be alive and have improvements in motor function than those in the control group. Early treatment may be necessary to maximize the benefit of the drug. (Funded by Biogen and Ionis Pharmaceuticals; ENDEAR ClinicalTrials.gov number, NCT02193074.)
Acute cerebellitis is a rare condition often considered within the group of acute postinfectious cerebellar ataxia despite its distinctive clinical and imaging features. We retrieved clinical, laboratory, and follow-up data of 15 children diagnosed with acute cerebellitis in our department between 2011 and 2019. There were 10 boys and 5 girls aged 3-15 years, median 9.5 years. The most common first symptoms were ataxia, vomiting, and headache. Magnetic resonance imaging (MRI) generally showed bilateral symmetrical T2 hyperintense changes with moderate swelling in the cerebellar cortex. Tonsillar herniation was present in 73.3% and obstructive hydrocephalus in 26.6%. Etiologic workup for infectious pathogens revealed Mycoplasma pneumoniae, influenza A virus, cytomegalovirus, and varicella zoster virus in 1 case each. Fourteen of 15 patients were treated with intravenous and/or oral steroids and 8 cases with intravenous immunoglobulin. No patient required surgical decompression. Neurologic examination median 12 months later revealed ataxia and dysmetria in 4 cases (27%), accompanied by memory difficulties, dysarthria or tremor. Follow-up magnetic resonance imaging (MRI; n = 12) showed diffuse cerebellar cortical T2-hyperintense signal changes in 11 cases and cerebellar atrophy in 9. The diagnosis of acute cerebellitis rather than acute postinfectious cerebellar ataxia should be considered when headache and vomiting accompany ataxia in a child. Acute cerebellitis heals with sequelae in about one-third of cases. The absence of fatalities in our series suggests early diagnosis, and steroid treatment can increase the chance of recovery. MRI results were not found to be predictive of outcome.
Background/Aims: To evaluate children with gallstone in respect to demographic features, type of presentation, predisposing risk factors, laboratory features, complications, and outcome. Materials and Methods: Overall, 124 children with sonographically diagnosed gallstone were stratified into group 1 (symptomatic) and group 2 (asymptomatic). The data on demographic features, predisposing risk factors, laboratory features, complications, and outcome were collected from medical charts and compared by using convenient statistical methods.Results: There were 76 (61%) children in group 1. Females were significantly older than males at the time of diagnosis (p=0.001). After adjusting for age and sex, asymptomatic presentation was associated with hemolytic anemia (r=346, <0.001) and being an oncologic patient (r=248, p=0.006). No risk factor was specifically associated with having a symptomatic presentation. Sixteen children (12.9%) developed complications: 14 (18.4%) in group 1 and 2 (4.2%) in group 2 (p=0.027). Gallstone resolution was detected in 20 (29.4%) and 10 children (23.3%) in groups 1 and 2, respectively (p=0.477). Resolution was observed in 43.8% of children with ceftriaxone-associated gallstone. The rate of resolution with ursodeoxycholic acid (UDCA) was similar to that observed with expectant management. Gallstone resolution was evident in 9 infants (50.0%) and was significantly higher than children over 2 years of age (21 out of 106 children, 19.8%) (p=0.006). The most important factor associated with gallstone resolution was to be an infant (<2 years of age) at the time of diagnosis (OR: 3.1; 95% CI: 1.1-8.8; p=0.034). Conclusion: Ceftriaxone-associated gallstones are most likely to resolve but do not always undergo spontaneous resolution. UDCA treatment seems to be ineffective. Young age is a favorable factor for gallstone resolution. The rate of complications in children with asymptomatic presentation is considerably low. Thus, clinical follow-up rather than surgical intervention is suggested in children with asymptomatic presentation and in infants.
The coronavirus disease 2019 (COVID-19) caused by SARS-CoV-2 appeared in Wuhan, China in December 2019 and quickly spread around the world and is considered a global pandemic. This disease, which is pre-infected with respiratory and cardiovascular system symptoms, can also occur in many organ systems. Since the beginning of the pandemic, cases related to neurological involvement have been reported in the literature and studies coercing neurological findings and complications have been published. COVID-19 can cause wide spectrum of neurological phenotypes from severe to milder. To the best of our knowledge, our case is the first report describing the chorea in a patient associated with COVİD-19. In this article, we aim to present a patient who was admitted with chorea on the 3rd day of the COVID-19 followed by Sydenham chorea, which had already improved. This report expands the phenotypic spectrum of COVID-19 and suggests that COVID-19 can be associated with or trigger chorea.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.