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.)
Twenty-seven cases of infantile myofibromatosis presenting with dermatological manifestations were retrospectively reviewed. Approximately 80% were solitary lesions and 50% of these appeared on the head and neck. Around 60% were present at or soon after birth. Most lesions were dermal or subcutaneous, although some were intramuscular and intraosseous. The clinical appearance was non-specific leading to frequent misdiagnosis. While most patients presented with nodules, atrophic depressed lesions and warty pedunculated lesions were also seen. Although 7% of lesions recurred after excision, spontaneous resolution was also documented.
While most dermal melanocytoses are congenital or have an onset in early childhood, there is a group which is clearly acquired, with an onset in adult life. While the Mongolian spot typically disappears in childhood, other dermal melanocytoses persist for life. A brief review of the clinical spectrum of the dermal melanocytoses is undertaken and three illustrative cases are described: a case of congenital naevus of Ota, a case of acquired bilateral naevus of Ota-like macules, and an unusual case of a congenital dermal melanocytotic lesion on the left had which began to spread in adulthood. The possibilities regarding the pathogenesis of this intriguing group of disorders are considered.
Objective: To assess the effect of use (washing and wearing) on the photoprotection provided by a cotton fabric. Methods: Twenty jersey‐knit pure cotton T‐shirts were worn for 4–8 hours per week and washed weekly for 10 weeks. Fabric samples taken before and after use were compared. Main outcome measures: Fabric ultraviolet protection factor (UPF) was calculated from spectrophotometric ultraviolet radiation transmission data. Changes in fabric structure and hole size were determined for samples from one T‐shirt by light microscopy and image analysis. Results: UPF increased consistently and significantly after use, from a mean of 19.0 to 40.6. A corresponding reduction in fabric hole area was seen under the light microscope and confirmed on image analysis (from 8.0% to 3.9% of total image area). Conclusion: UPF of pure cotton garments may improve after use, at least in the short term. The increase is mostly accounted for by reduction in fabric hole area due to shrinkage.
Aim To determine what effect a period of prolonged washing and drying of a garment would have on the photoprotection afforded by the fabric of that garment.Materials and Methods Five pure cotton T-shirts from the same production lot were subjected to 36 consecutive standard washes. The fabric sun protection factors (SPFs) calculated from spectrophotometric UVR transmission data for samples taken from each garment after use were compared with those of control samples taken from the same garment prior to the study.Results There was a significant increase in fabric SPF after one wash in all shirts with no further change in 4 of 5 shirts after a further 35 washes.Conclusion The effect on fabric SPF of the first wash can account for most of the effect on fabric SPF of wash and wear in the use of a garment. The SPF rating of a pure cotton garment as new is valid for the standard lifetime of that garment. 0926-9959/95/509.50 © 1995 Elsevier Science B.V. All rights reseived SSDI 0926-9959(95)00053-4 D. G. Stanford et al. /J. Eur. Acad. Dermatol. Venereol. 5 (1995) 28-30 •29
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.