Read by QxMD icon Read

neuromuscular scoliosis

Jia-Ze Tan, Yuan Man, Fei Xiao
BACKGROUND: Congenital myasthenic syndromes are a group of rare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction. Here, we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS). METHODS: Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined, and next-generation sequencing followed by direct sequencing was carried out...
2016: Chinese Medical Journal
Erika Roddy, Mohammad Diab
BACKGROUND CONTEXT: Short-term readmission rates are becoming widely utilized as a quality and performance metrics for hospitals. Data on unplanned short-term readmission after spine fusion for deformity in pædiatric patients is limited. PURPOSE: To characterize the rate and risk factors for short-term readmission after spine fusion for deformity in pædiatric patients. STUDY DESIGN: Retrospective cohort study PATIENT SAMPLE: State In-Patient Databases from NY, UT, NE, FL, NC (years 2006-2010) and CA (years 2006-2011)...
October 17, 2016: Spine Journal: Official Journal of the North American Spine Society
Thashi Chang, Judith Cossins, David Beeson
BACKGROUND: Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in neuromuscular transmission. Acetylcholine receptor epsilon (ε) subunit (CHRNE) gene mutations account for about 30-50 % of genetically diagnosed cases. We report a rare CHRNE gene mutation in a South Asian female with CMS. CASE PRESENTATION: A 17-year-old Maldivian female presented with bilateral partial ptosis, fatigable proximal muscle weakness and slurring of speech noted since the age of 2 years...
October 7, 2016: BMC Neurology
Rob C Brink, Tom P C Schlösser, Dino Colo, Ludvig Vavruch, Marijn van Stralen, Koen L Vincken, Marcus Malmqvist, Moyo C Kruyt, Hans Tropp, René M Castelein
STUDY DESIGN: Cross-sectional. OBJECTIVE: To investigate the presence and magnitude of anterior spinal overgrowth in neuromuscular scoliosis and compare this to the same measurements in idiopathic scoliosis and healthy spines. SUMMARY OF BACKGROUND DATA: Anterior spinal overgrowth has been described as a potential driver for the onset and progression of adolescent idiopathic scoliosis (AIS). Whether this anterior overgrowth is specific for AIS or also present in non-idiopathic scoliosis has not been reported...
September 28, 2016: Spine
Michael F Coscia, Gerald A Denys, Matthew F Wack
STUDY DESIGN: Patients scheduled for spinal surgery were screened prospectively for a microbial presence associated with intervertebral disc specimens. Inclusion was limited to patients requiring surgery for any of 5 conditions: study patients with cervical spine intervertebral herniation (IVH), lumbar spine IVH, lumbar spine discogenic pain, and control patients with idiopathic scoliosis/Scheurermann's kyphosis or trauma/neuromuscular deformity. Exclusion criteria included ongoing systemic infection, abnormal pre-operative white cell counts, documented or suspected spinal infection, or previous surgery to the involved disc...
September 23, 2016: Spine
Justin C Paul, Baron S Lonner, Shaleen Vira, David Feldman, Thomas J Errico
STUDY DESIGN: Retrospective cohort study of spine fusion surgery utilizing the New York State Inpatient Database. OBJECTIVE: The objective was to determine whether there were differences in reoperation rates among pediatric scoliosis associated with various etiologies compared with idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: The incidence of postoperative complications and reoperations is known to vary among patients with diverse scoliosis pathologies...
September 3, 2016: Journal of Pediatric Orthopedics
Mary Kearney, Richard W Orrell, Michael Fahey, Ruth Brassington, Massimo Pandolfo
BACKGROUND: Friedreich ataxia is a rare inherited autosomal recessive neurological disorder, characterised initially by unsteadiness in standing and walking, slowly progressing to wheelchair dependency usually in the late teens or early twenties. It is associated with slurred speech, scoliosis, and pes cavus. Heart abnormalities cause premature death in 60% of people with the disorder. There is no easily defined clinical or biochemical marker and no known treatment. This is the second update of a review first published in 2009 and previously updated in 2012...
2016: Cochrane Database of Systematic Reviews
Ryoji Tauchi, Noriaki Kawakami, Taichi Tsuji, Tetsuya Ohara, Yoshitaka Suzuki, Toshiki Saito, Ayato Nohara
PURPOSE: Pectus excavatum can negatively impact cardiac function during scoliosis surgery. Several authors reported severe hypotension associated with the prone position during scoliosis surgery in children that had both scoliosis and pectus excavatum. However, we could find no studies that evaluated the change in the thoracic factors, such as sternal tilt angle and Haller index after scoliosis surgery in patients with both scoliosis and pectus excavatum. The purpose of this study is to evaluate the change in thoracic factors after surgical treatment for scoliosis associated with pectus excavatum...
August 27, 2016: European Spine Journal
Jamal McClendon, Timothy R Smith, Patrick A Sugrue, Sara E Thompson, Brian A O'Shaughnessy, Tyler R Koski
OBJECTIVE: To evaluate spinal implant density and proximal junctional kyphosis (PJK) in adult spinal deformity (ASD). METHODS: Consecutive ASD patients receiving >5 level fusions were retrospectively analyzed between 2007 and 2010. INCLUSION CRITERIA: ASD, elective fusions, minimum 2-year follow-up. EXCLUSION CRITERIA: Age < 18 years, neuromuscular or congenital scoliosis, cervical or cervicothoracic fusions, non-elective conditions (infection, tumor, trauma)...
August 12, 2016: World Neurosurgery
Anju A Bendon, Khristine A George, Davandra Patel
INTRODUCTION: Neuromuscular scoliosis is a known risk factor for postoperative complications after corrective spine surgery. Few studies have looked at the preoperative factors affecting postoperative complications in children with cerebral palsy. AIM: The aim of this study was to examine the factors that might influence postoperative course in patients with cerebral palsy undergoing spine surgery for scoliosis. METHODS: Nineteen case notes of children with cerebral palsy who had spine surgery (2008-2014) were reviewed retrospectively...
October 2016: Paediatric Anaesthesia
Carola Hedberg-Oldfors, Niklas Darin, Mia Olsson Engman, Zacharias Orfanos, Christer Thomsen, Peter F M van der Ven, Anders Oldfors
We describe a new early-onset neuromuscular disorder due to a homozygous loss-of-function variant in the kyphoscoliosis peptidase gene (KY). A 7.5-year-old girl with walking difficulties from 2 years of age presented with generalized muscle weakness; mild contractures in the shoulders, hips and feet; cavus feet; and lordosis but no scoliosis. She had previously been operated with Achilles tendon elongation. Whole-body MRI showed atrophy and fatty infiltration in the calf muscles. Biopsy of the vastus lateralis muscle showed variability in fiber size, with some internalized nuclei and numerous very small fibers with variable expression of developmental myosin heavy chain isoforms...
August 3, 2016: European Journal of Human Genetics: EJHG
Themistocles S Protopsaltis, Anthony J Boniello, Frank J Schwab
A wide range of neuromuscular diseases, including Parkinson disease, cerebral palsy, multiple sclerosis, and myopathy, are associated with spinal deformities. The most common postural deformities include anterocollis, Pisa syndrome (pleurothotonus), scoliosis, and camptocormia. Nonsurgical management of spinal deformity in patients with neuromuscular disease centers on maximizing the medical management of the underlying neurodegenerative pathology before surgical intervention is contemplated. Surgical management can include decompression alone, or decompression and fusion with short or long fusion constructs...
September 2016: Journal of the American Academy of Orthopaedic Surgeons
Christine Hanson, Athena Maria Lolis, Aleksandar Beric
Intraoperative monitoring is performed to provide real-time assessment of the neural structures that can be at risk during spinal surgery. Somatosensory evoked potentials (SEPs) are the most commonly used modality for intraoperative monitoring. SEP stability can be affected by many factors during the surgery. This study is a prospective review of SEP recordings obtained during intraoperative monitoring of instrumented spinal surgeries that were performed for chronic underlying neurologic and neuromuscular conditions, such as scoliosis, myelopathy, and spinal stenosis...
2016: Frontiers in Neurology
John H T Waldhausen, Greg Redding, Klane White, Kit Song
PURPOSE: This report describes complications using the vertical expandable prosthetic titanium rib (VEPTR) for thoracic insufficiency syndrome (TIS) at a single center. METHODS: This is a prospective cohort evaluating 65 patients with rib-rib and rib-spine VEPTR devices for TIS placed between 10/2001 and 11/2014, for children with spinal or chest wall deformity. Patients were classified using the early onset scoliosis classification system (C-EOS). RESULTS: 65 patients are available for follow up...
June 26, 2016: Journal of Pediatric Surgery
Zheng Li, Jianxiong Shen, Jinqian Liang, Fan Feng
Guillain-Barré syndrome (GBS) is an acute autoimmune inflammatory demyelinating polyneuropathy that mostly affects the peripheral nervous system. Little is reported about spinal deformity associated with GBS. This study aims to present a case of scoliosis occurring in the setting of GBS.Case report and literature review.The patient was a 14-year-old male with scoliosis. His spinal plain radiographs showed that the Cobb angle of thoracic scoliosis was 114°. History review revealed that he developed profound lower extremity pain, weakness, and numbness after catching a cold 5 years ago...
June 2016: Medicine (Baltimore)
Prakash Sitoula, Laurens Holmes, Julieanne Sees, Kenneth Rogers, Kirk Dabney, Freeman Miller
STUDY DESIGN: Retrospective review of radiographs and charts (case-only). OBJECTIVE: The aim of this study was to describe the long-term outcomes of spine fusion for neuromuscular scoliosis in children <10 years of age with cerebral palsy (CP). SUMMARY OF BACKGROUND DATA: Severely involved children with CP may develop early onset scoliosis. The outcome of spine fusion is not clear and there are no studies focused on spine fusion in this young patient population...
June 20, 2016: Clinical Spine Surgery
Hiroko Matsumoto, Brendan Williams, Howard Y Park, Julie Y Yoshimachi, Benjamin D Roye, David P Roye, Behrooz A Akbarnia, John Emans, David Skaggs, John T Smith, Michael G Vitale
INTRODUCTION: The goal of early-onset scoliosis (EOS) treatment is to improve health-related quality of life (HRQoL) for patients and to reduce the burden on their parents or caregivers. The purpose of this study is to develop and finalize the 24-item Early-Onset Scoliosis Questionnaire (EOSQ-24), and examine the validity, reliability, and responsiveness of the EOSQ-24 in measuring patients' HRQoL, the burden on their caregivers, and the burden on their caregiver's finances. The study also established aged-matched normative values for the EOSQ-24...
June 13, 2016: Journal of Pediatric Orthopedics
Mareike Burow, Raimund Forst, Jürgen Forst, Benjamin Hofner, Albert Fujak
PURPOSE: Patients with Duchenne muscular dystrophy (DMD) or spinal muscular atrophy (SMA), both neuromuscular diseases, sustain spinal scoliosis in the course of their disease. To reduce the concomitant major morbidity and to improve their quality of life, patients require surgical spine stabilization. This can lead to complications like respiratory, cardiac or neurological complications or wound healing disorders (WHD). To find out the different complexities and risk factors increasing the chance to develop a WHD, the inpatient database was analyzed...
June 1, 2016: International Journal of Neuroscience
Kavelin Rumalla, Chester K Yarbrough, Andrew J Pugely, Linda Koester, Ian G Dorward
OBJECTIVE The objective of this study was to determine if the recent changes in technology, surgical techniques, and surgical literature have influenced practice trends in spinal fusion surgery for pediatric neuromuscular scoliosis (NMS). In this study the authors analyzed recent trends in the surgical management of NMS and investigated the effect of various patient and surgical factors on in-hospital complications, outcomes, and costs, using the Nationwide Inpatient Sample (NIS) database. METHODS The NIS was queried from 2002 to 2011 using International Classification of Diseases, Ninth Edition, Clinical Modification codes to identify pediatric cases (age < 18 years) of spinal fusion for NMS...
May 20, 2016: Journal of Neurosurgery. Spine
M Putzier, C Groß, R K Zahn, M Pumberger, P Strube
Usually, neuromuscular scolioses become clinically symptomatic relatively early and are rapidly progressive even after the end of growth. Without sufficient treatment they lead to a severe reduction of quality of life, to a loss of the ability of walking, standing or sitting as well as to an impairment of the cardiopulmonary system resulting in an increased mortality. Therefore, an intensive interdisciplinary treatment by physio- and ergotherapists, internists, pediatricians, orthotists, and orthopedists is indispensable...
June 2016: Der Orthopäde
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"