3:36 PM Abstract No. 350 Intrathecal catheter and port placement for nusinersen infusion in patients with spinal muscular atrophy and spinal fusion: Technical note

Spinal muscular atrophy (SMA) is among the most common monogenic causes of spinal motor neuron(SMN) degeneration with severely affected cases having a median survival of less than 2 years of age. Nusinersen (Spinraza) is a novel antisense oligonucleotide administered intrathecally for treatment of SMA. Most of these patients have scoliosis often treated by posterior fusion from T2 to sacrum making lumbar puncture challenging. Building on our prior experience in intrathecal catheter placement, we describe our initial experience with an image-guided approach to implantation of intrathecal catheters and subcutaneous ports in patients with SMA with extensive spinal fusions.
Source: Journal of Vascular and Interventional Radiology : JVIR - Category: Radiology Authors: Tags: Scientific Session 38 Source Type: research

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CONCLUSIONS: One session of active tDCS did not have an immediate effect on quadriceps activity and subjective scores of pain and symptoms. To determine if tDCS is a valid modality for this patient population, a larger scale investigation with multiple treatments of active tDCS is warranted. PMID: 32221043 [PubMed - as supplied by publisher]
Source: Journal of Sport Rehabilitation - Category: Sports Medicine Tags: J Sport Rehabil Source Type: research
CONCLUSIONS Potential pathogenic variants in ESR1 and ESR2 were identified in 113 AIS patients, suggesting that genetic mutations in ESR1/2 were associated with the risk of AIS. PMID: 32218412 [PubMed - as supplied by publisher]
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
In this study, zebrafish (Danio rerio) were exposed to different concentrations of THC (0.08, 0.4, 2  μM) during embryonic-larval development and the effects on aging were measured 30 months later and in the offspring of the exposed fish (F1 generation). Exposure to 0.08 μM THC resulted in increased male survival at 30 months of age. As the concentration of THC increased, this protective effe ct was lost. Treatment with the lowest concentration of THC also significantly increased egg production, while higher concentrations resulted in impaired fecundity. Treatment with the lowest dose of THC signi...
Source: AGE - Category: Geriatrics Source Type: research
Conclusions: Carrying a load on the head leads to accelerated degenerative changes, which involve the upper cervical spine more than the lower cervical spine and predisposes it to injury at a lower threshold. Thus, alternative methods of carrying loads should be proposed. PMID: 32213796 [PubMed - as supplied by publisher]
Source: Asian Spine Journal - Category: Orthopaedics Tags: Asian Spine J Source Type: research
Authors: Kaliya-Perumal AK, Soh TLT, Tan M, Oh JY Abstract Study Design: Retrospective radiological analysis. Purpose: To analyze the factors influencing early disc height loss following lateral lumbar interbody fusion (LLIF). Overview of Literature: Postoperative disc height loss can occur naturally as a result of mechanical loading. This phenomenon is enabled by the yielding of the polyaxial screw heads and settling of the cage to the endplates. When coupled with cage subsidence, there can be significant reduction in the foraminal space which ultimately compromises the indirect decompression achieved by L...
Source: Asian Spine Journal - Category: Orthopaedics Tags: Asian Spine J Source Type: research
Authors: Yu C, Zhan X, Liu C, Liao S, Xu J, Liang T, Zhang Z, Chen J Abstract BACKGROUND This retrospective study aimed to investigate the risk factors associated with the recurrence of L5-S1 disc herniation after percutaneous endoscopic transforaminal discectomy (PETD). MATERIAL AND METHODS There were 484 patients L5-S1 disc herniation who underwent PETD who were divided into the recurrence group (n=46) and the non-recurrence group (n=438). Transforaminal endoscopic approaches included modifications of the Yeung endoscopy spine system (YESS) (the intraforaminal intradiscal approach) and the transforaminal endoscop...
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
Zolgensma is a gene therapy that addresses the genetic root cause of spinal muscular atrophy by replacing the defective or missing SMN1 gene to halt disease progression.International Approvals
Source: Medscape Neurology and Neurosurgery Headlines - Category: Neurology Tags: Neurology & Neurosurgery News Alert Source Type: news
This study was designed to compare TEG® functional fibrinogen level (FLEV) with classic Clauss fibrinogen in patients undergoing scoliosis surgery and to evaluate the concordance between the two methods. METHODS: Patients in this study were part of a larger study evaluating the effect of fibrinogen concentrate (FC) supplementation on perioperative blood loss in scoliosis surgery. Paired samples for TEG® FF and Clauss fibrinogen assays were taken from 40 patients at three different timepoints perioperatively. The agreement between FLEV and Clauss was assessed, and the possibility of using FLEV measurements to p...
Source: International Journal of Laboratory Hematology - Category: Hematology Authors: Tags: Int J Lab Hematol Source Type: research
Kirschner J Abstract Spinal muscular atrophy (SMA) is a progressive autosomal recessive neurodegenerative disease with an incidence of 1:10,000 live births. With a deeper understanding of the molecular basis of SMA in the past two decades, a major focus of therapeutic development has been on increasing the proportion of functionally capable SMN protein by increasing the inclusion of exon 7 in SMN2 transcripts, enhancing SMN2 gene expression, stabilizing the SMN protein or replacing the SMN1 gene. Since June 2017, the antisense oligonucleotide nusinersen/Spinraza® (Biogen GmbH, Ismaning, Germany)...
Source: Der Nervenarzt - Category: Neurology Authors: Tags: Nervenarzt Source Type: research
Publication date: February 2018 Source:Orthopaedics & Traumatology: Surgery & Research, Volume 104, Issue 1, Supplement Author(s): P. Mary, L. Servais, R. Vialle Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) sugge...
Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
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