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neuromuscular scoliosis

Joshua J Todd, Muslima S Razaqyar, Jessica W Witherspoon, Tokunbor A Lawal, Ami Mankodi, Irene C Chrismer, Carolyn Allen, Mary D Meyer, Anna Kuo, Monique S Shelton, Kim Amburgey, Dmitriy Niyazov, Pierre Fequiere, Carsten G Bönnemann, James J Dowling, Katherine G Meilleur
The ryanodine receptor 1-related congenital myopathies ( RYR1 -RM) comprise a spectrum of slow, rare neuromuscular diseases. Affected individuals present with a mild-to-severe symptomatology ranging from proximal muscle weakness, hypotonia and joint contractures to scoliosis, ophthalmoplegia, and respiratory involvement. Although there is currently no FDA-approved treatment for RYR1- RM, our group recently conducted the first clinical trial in this patient population (NCT02362425). This study aimed to characterize novel RYR1 variants with regard to genetic, laboratory, muscle magnetic resonance imaging (MRI), and clinical findings...
2018: Frontiers in Neurology
Taylor J Jackson, Burt Yaszay, Joshua M Pahys, Anuj Singla, Firoz Miyanji, Suken A Shah, Paul D Sponseller, Peter O Newton, John M Flynn, Patrick J Cahill
BACKGROUND: For large scoliosis, 2 strategies to maximize correction include intraoperative traction and/or anterior release. It is unclear which patients will benefit the most form either approach. The purpose of our study is to compare the radiographic, perioperative clinical outcomes, and health-related quality of life (HRQoL) outcomes of 2 approaches when used in severe neuromuscular scoliosis in the setting of cerebral palsy (CP). METHODS: In total, 23 patients with minimum 2-year follow-up, major curves ≥100 degrees, and in whom treatment included posterior spinal fusion were evaluated...
March 8, 2018: Journal of Pediatric Orthopedics
Aaron J Buckland, Bryan M Beaubrun, Evan Isaacs, John Moon, Peter Zhou, Sam Horn, Gregory Poorman, Jared C Tishelman, Louis M Day, Thomas J Errico, Peter G Passias, Themistocles Protopsaltis
Study Design: Retrospective radiological review. Purpose: To quantify the effect of sitting vs supine lumbar spine magnetic resonance imaging (MRI) and change in anterior displacement of the psoas muscle from L1-L2 to L4-L5 discs. Overview of Literature: Controversy exists in determining patient suitability for lateral lumbar interbody fusion (LLIF) based on psoas morphology. The effect of posture on psoas morphology has not previously been studied; however, lumbar MRI may be performed in sitting or supine positions...
February 2018: Asian Spine Journal
Ryan Ghusayni, Monisha Sachdev, William Gallentine, Mohamad A Mikati, Marie T McDonald
Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other PTEN mutation-related syndrome of Bannayan-Riley-Ruvalcaba. Here, we report a patient with Bannayan-Riley-Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan-Riley-Ruvalcaba syndrome. An 11-year-old boy developed drug-resistant focal seizures on the fifth day of life. MRI revealed left hemimegalencephaly...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
José Luis García-Giménez, Pedro Antonio Rubio-Belmar, Lorena Peiró-Chova, David Hervás, Daymé González-Rodríguez, José Santiago Ibañez-Cabellos, Paloma Bas-Hermida, Salvador Mena-Mollá, Eva María García-López, Federico V Pallardó, Teresa Bas
The aetiology of adolescent idiopathic scoliosis (AIS) has been linked to many factors, such as asymmetric growth, neuromuscular condition, bone strength and genetic background. Recently, epigenetic factors have been proposed as contributors of AIS physiopathology, but information about the molecular mechanisms and pathways involved is scarce. Regarding epigenetic factors, microRNAs (miRNAs) are molecules that contribute to gene expression modulation by regulating important cellular pathways. We herein used Next-Generation Sequencing to discover a series of circulating miRNAs detected in the blood samples of AIS patients, which yielded a unique miRNA biomarker signature that diagnoses AIS with high sensitivity and specificity...
February 8, 2018: Scientific Reports
Lotfi Miladi, Mathilde Gaume, Nejib Khouri, Michael Johnson, Vicken Topouchian, Christophe Glorion
STUDY DESIGN: A retrospective review. OBJECTIVES: To report the results of an alternative technique using a minimally invasive fusionless surgery. The originality is based on the progressive correction of the deformities with proximal and distal fixation and on the reliability of the pelvic fixation using ilio-sacral screws on osteoporotic bones. SUMMARY OF BACKGROUND DATA: Spinal deformities are common in neuromuscular diseases. Conventional treatment involves bracing, followed by spinal instrumented fusion...
February 6, 2018: Spine
Nathan E How, John T Street, Marcel F Dvorak, Charles G Fisher, Brian K Kwon, Scott Paquette, Justin S Smith, Christopher I Shaffrey, Tamir Ailon
We conducted a systematic review with meta-analysis and qualitative synthesis. This study aims to characterize pseudarthrosis after long-segment fusion in spinal deformity by identifying incidence rates by etiology, risk factors for its development, and common features. Pseudarthrosis can be a painful and debilitating complication of spinal fusion that may require reoperation. It is poorly characterized in the setting of spinal deformity. The MEDLINE, EMBASE, and Cochrane databases were searched for clinical research including spinal deformity patients treated with long-segment fusions reporting pseudarthrosis as a complication...
February 6, 2018: Neurosurgical Review
Anna K Hell, Katharina Groenefeld, Konstantinos Tsaknakis, Lena Braunschweig, Heiko M Lorenz
Spine-based fixation of magnetically controlled lengthening devices has been successfully performed for children with early-onset scoliosis. However, spinal manipulation may lead to ossifications, stiffness, and autofusion as previously described. To avoid these problems, a surgical technique combining bilateral externally controlled magnetic device implantation with a rib cradle and pelvic hook fixation was introduced by us in 2011. By using a bilateral single-rib or double-rib cradle fixation and a pelvic hook, the magnetic device is percutaneously inserted...
January 23, 2018: Clinical Spine Surgery
Sergey O Ryabykh, Olga M Pavlova, Dmitry M Savin, Alexander V Burcev, Alexander V Gubin
STUDY DESIGN: Retrospective cohort study OBJECTIVE: To evaluate optimal timing and type of surgical treatment of myelomeningocele-related spinal deformities. To provide long term follow-up of surgical treatment. METHODS: We reviewed and presented clinical pictures, treatment strategies and results of 20 patients with myelomeningocele-related spinal deformities, treated at the Ilizarov Center (Kurgan, Russia) from 2010 to 2017. RESULTS: Average age was 6...
January 17, 2018: World Neurosurgery
Carlos Segundo Montero, David Alberto Meneses, Fernando Alvarado, Wilmer Godoy, Diana Isabel Rosero, Jose Manuel Ruiz
Background: Multiple techniques are utilized for distal fixation in patients with neuromuscular scoliosis. Although there is evidence of benefit with S2 alar iliac (S2AI) fixation, this remains controversial. The objective of this study is to evaluate the radiological outcomes and complications associated with this surgical technique in a pediatric population. Methods: An observational retrospective case series study was performed. All pediatric patients between January 2011 and February 2014 diagnosed with neuromuscular scoliosis associated with pelvic obliquity, which required surgery with fixation unto S2AI, were included...
December 2017: Journal of Spine Surgery (Hong Kong)
Kai Han, Yongqian Wang, Shangbin Cui, Caixia Xu, Peiqiang Su
A rare case of a 15-year-old male patient with neuromuscular scoliosis with forced vital capacity (FVC) below 30%, who went through a successful surgery without any pulmonary complications, is reported herein. The patient had obvious asymmetric shoulders and poor exercise tolerance. The Cobb's angle of the main thoracic curve was 62.8°, and FVC in sitting position was 18% of predictive value. After skull traction and pulmonary rehabilitation, the FVC was still below 30%, and he finally went through surgery under this serious condition...
January 16, 2018: European Spine Journal
Mohamed Abdelhamid Ali Yousef, Scott Rosenfeld
BACKGROUND: Scoliosis is a common deformity in patients with neuromuscular disorders which usually necessitates surgical correction. Patients with neuromuscular scoliosis are characterized by increased incidence of associated medical co-morbidities and higher postoperative complication rate; therefore, these patients are often managed with a wide multidisciplinary care team. Postoperative fever is a frequent complication after surgery which is often routinely investigated using different workup tests to rule out infection...
January 9, 2018: European Spine Journal
Eric Chun Pu Chu, Kevin Hsu Kai Huang
Adolescent idiopathic scoliosis (AIS) remains the most common and potentially severe form of scoliosis during the rapid growth period. It is generally accepted that AIS is a multifactorial disease controlled by genetic, hormonal, neuromuscular, and environmental factors. Herein, we describe a case of 12-year-old scoliotic girl with a double curve of initially 26° thoracic and 23° lumbar, seeking chiropractic care. The therapy was provided three times/twice a week for 6 months. Adjustments of the spine through chiropractic, both soreness and mobility, were shown to improve...
April 2017: Journal of Family Medicine and Primary Care
Patrick J Cahill, Amer F Samdani, Christopher M Brusalis, Todd Blumberg, Jahangir Asghar, Tracey P Bastrom, Saba Pasha, Christian A Refakis, Joshua M Pahys, John M Flynn, Paul D Sponseller
BACKGROUND: Series on the learning curve in spinal deformity surgery have been published, but none has addressed neuromuscular spinal deformity, comprised of arguably the most complex cases. We present the first multi-center analysis of the impact of surgeon experience on neuromuscular spinal deformity surgery. METHODS: A multi-center prospective study of spinal deformity surgery for cerebral palsy (CP) with at least 2 years of follow-up provided the dataset for assessment...
January 2018: Spine Deformity
Liam R Harris, Lindsay M Andras, Paul D Sponseller, Charles E Johnston, John B Emans, David L Skaggs
STUDY DESIGN: Multicenter retrospective cohort. OBJECTIVE: To compare improvement in nutritional status seen in early-onset scoliosis (EOS) patients following treatment with various growth-friendly techniques, especially in underweight patients (<20th weight percentile). BACKGROUND: Thoracic insufficiency resulting from EOS can lead to severe cardiopulmonary disease. In this age group, pulmonary function tests are often difficult or impossible to perform...
January 2018: Spine Deformity
Carlo M Bertoncelli, Domenico Bertoncelli, Leonard Elbaum, Michal Latalski, Paola Altamura, Charles Musoff, Virginie Rampal, Federico Solla
BACKGROUND: The objective of this study was to evaluate the performance of a clinical prediction model of neuromuscular scoliosis via external validation. METHODS: We analyzed a series of 120 patients (mean age ± standard deviation, 15.7 ± 1.8 years; range: 12 to 18 years) with cerebral palsy, severe motor disorders, and cognitive impairment with and without neuromuscular scoliosis treated in two specialized units (70 patients from Nice, France, and 50 patients from Lublin, Poland) in a cross-sectional, double-blind study...
November 20, 2017: Pediatric Neurology
Atsushi Tanida, Shinji Tanishima, Tokumitsu Mihara, Aya Narita, Yoshihiro Maegaki, Hideki Nagashima
CASE: A 16-year-old girl with Pompe disease underwent surgery for scoliosis. She had been able to walk without any assistance, and kept her balance by swinging her waist. Therefore, we performed posterior selective spinal correction and fusion to avoid any adverse effects on walking ability that could occur with immobilization of the lumbosacral spine. After surgery, she was highly satisfied with her ability to perform the activities of daily living. CONCLUSION: For nonambulatory patients with scoliosis and Pompe disease, long fusion from the upper thoracic spine to the pelvis is generally required...
January 2017: JBJS Case Connector
Courtney S Toombs, Justin C Paul, Baron S Lonner
STUDY DESIGN: Retrospective analysis of a prospectively collected, national inpatient hospital database. OBJECTIVE: We aimed to investigate comorbid psychiatric disorders in the ASD population. We hypothesized that a high incidence of comorbid psychiatric disorders in ASD would negatively impact perioperative outcomes. SUMMARY OF BACKGROUND DATA: Adult spinal fusion (ASF) patients suffer from severe back pain and often depression. Psychiatric comorbidities in the adult spinal deformity (ASD) population are not well understood, despite the apparent psychological effects of spinal deformity-related self-image...
December 8, 2017: Spine
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) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
Christina K Hardesty, Zachary L Gordon, Connie Poe-Kochert, Jochen P Son-Hing, George H Thompson
BACKGROUND: Reducing perioperative blood loss and the need for transfusions in patients undergoing spinal surgery is especially important for those with neuromuscular disorders. These patients require extensive spino-pelvic exposure and are often medically fragile. We have used Amicar to decrease blood loss since 2001. As an effort to further reduce blood loss and transfusions, we use a bipolar sealer device (Aquamantys) as an adjunct to electrocautery. We present the results of our first 64 neuromuscular patients to show the efficacy of the device...
February 2018: Journal of Pediatric Orthopedics
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