No abstract

No abstract

Background: The antisense oligonucleotide Nusinersen recently became the first approved drug against spinal muscular atrophy (SMA). It was approved for all ages, albeit the clinical trials were conducted exclusively on children. Hence, clinical data on adults being treated with Nusinersen is scarce. In this case series, we report on drug application, organizational demands, and preliminary effects during the first 10 months of treatment with Nusinersen in seven adult patients. Methods: All patients received intrathecal injections with Nusinersen. In cases with severe spinal deformities, we performed computed tomography (CT)-guided applications. We conducted a total of 40 administrations of Nusinersen. We evaluated the patients with motor, pulmonary, and laboratory assessments, and tracked patient-reported outcome. Results: Intrathecal administration of Nusinersen was successful in most patients, even though access to the lumbar intrathecal space in adults with SMA is often challenging. No severe adverse events occurred. Six of the seven patients reported stabilization of motor function or reduction in symptom severity. The changes in the assessed scores did not reach a significant level within this short time period. Conclusions: Treating adult SMA patients with Nusinersen is feasible and most patients consider it beneficial. It demands a complex organizational and interdisciplinary effort. Due to the slowly decreasing motor functions in adult SMA patients, long observation phases for this recently approved treatment are needed to allow conclusions about effectiveness of Nusinersen in adults.

A 61-year-old woman with neurofibromatosis type 1 (Recklinghausen's disease) was referred for massive swelling of the right forearm, pain, increasing numbness, and impaired movement of the fingers. Angiography demonstrated a 13- x 11-mm aneurysm and a capped rupture of the ulnar artery. Because of the complicated soft-tissue condition, interventional treatment was indicated. Two 360 degrees coils were placed for embolization of the ruptured aneurysm. Arterial involvement in neurofibromatosis is a well known but infrequent occurrence. Stenotic lesions predominate. Aneurysmal defects are less common, and rupture of peripheral arteries is exceptional.

Background It is essential to avoid admission of patients with undetected corona virus disease 2019 (COVID-19) to hospitals’ general wards. Even repeated negative reverse transcription polymerase chain reaction (RT-PCR) results do not rule-out COVID-19 with certainty. The study aimed to evaluate a rule-out strategy for COVID-19 using chest computed tomography (CT) in adults being admitted to the emergency department and suspected of COVID-19. Methods In this prospective, single centre, diagnostic accuracy cohort study, consecutive adults (≥ 18 years) presenting with symptoms consistent with COVID-19 or previous contact to infected individuals, admitted to the emergency department and supposed to be referred to general ward were included in March and April 2020. All participants underwent low-dose chest CT. RT-PCR- and specific antibody tests were used as reference standard. Main outcome measures were sensitivity and specificity of chest CT. Predictive values were calculated based on the theorem of Bayes using Fagan’s nomogram. Results Of 165 participants (56.4% male, 71 ± 16 years) included in the study, the diagnosis of COVID-19 was confirmed with RT-PCR and AB tests in 13 participants (prevalence 7.9%). Sensitivity and specificity of chest CT were 84.6% (95% confidence interval [CI], 54.6–98.1) and 94.7% (95% CI, 89.9–97.7), respectively. Positive and negative likelihood ratio of chest CT were 16.1 (95% CI, 7.9–32.8) and 0.16 (95% CI, 0.05–0.58) and positive and negative predictive value were 57.9% (95% CI, 40.3–73.7) and 98.6% (95% CI, 95.3–99.6), respectively. Conclusion At a low prevalence of COVID-19, chest CT could be used as a complement to repeated RT-PCR testing for early COVID-19 exclusion in adults with suspected infection before referral to hospital’s general wards. Trial registration ClinicalTrials.gov: NCT04357938 April 22, 2020.