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1982 1
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16 results

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Page 1
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885
Fifteen% of patients older than 2 years never walked (5 recessive, 4 de novo dominant, and 1 dominant patient) and 7% lost ambulation during follow-up. Scoliosis and spinal rigidity were present in 30% and 17% of patients, respectively. Respiratory involvement was …
Fifteen% of patients older than 2 years never walked (5 recessive, 4 de novo dominant, and 1 dominant patient) and 7% lost ambulation during …
SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.
Bouman K, Groothuis JT, Doorduin J, van Alfen N, Udink Ten Cate FEA, van den Heuvel FMA, Nijveldt R, Kamsteeg EJ, Dittrich ATM, Draaisma JMT, Janssen MCH, van Engelen BGM, Erasmus CE, Voermans NC. Bouman K, et al. J Neuromuscul Dis. 2023;10(6):1055-1074. doi: 10.3233/JND-221673. J Neuromuscul Dis. 2023. PMID: 37807786 Free PMC article.
BACKGROUND: SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial muscle weakness, spinal rigidity, scoliosis and respiratory impairment. No curative treatment options exist, but promising preclin …
BACKGROUND: SELENON(SEPN1)-related myopathy (SELENON-RM) is a rare congenital neuromuscular disease characterized by proximal and axial musc …
Growth-Friendly Spine Surgery in Arthrogryposis Multiplex Congenita.
Verhofste BP, Emans JB, Miller PE, Birch CM, Thompson GH, Samdani AF, Sanchez Perez-Grueso FJ, McClung AM, Glotzbecker MP; on behalf of the Pediatric Spine Study Group. Verhofste BP, et al. J Bone Joint Surg Am. 2021 Apr 21;103(8):715-726. doi: 10.2106/JBJS.20.00600. J Bone Joint Surg Am. 2021. PMID: 33475309
Our study objectives were to describe current GFI trends in children with AMC and early-onset scoliosis (EOS) and to compare long-term outcomes with a matched idiopathic EOS (IEOS) cohort to determine whether spinal rigidity or extremity contractures influenced outc …
Our study objectives were to describe current GFI trends in children with AMC and early-onset scoliosis (EOS) and to compare long-term outco …
Recessive MYH7-related myopathy in two families.
Beecroft SJ, van de Locht M, de Winter JM, Ottenheijm CA, Sewry CA, Mohammed S, Ryan MM, Woodcock IR, Sanders L, Gooding R, Davis MR, Oates EC, Laing NG, Ravenscroft G, McLean CA, Jungbluth H. Beecroft SJ, et al. Neuromuscul Disord. 2019 Jun;29(6):456-467. doi: 10.1016/j.nmd.2019.04.002. Epub 2019 Apr 12. Neuromuscul Disord. 2019. PMID: 31130376
All three patients shared key clinical features, including infancy/childhood onset, pronounced axial/proximal weakness, spinal rigidity, severe scoliosis, and normal cardiac function. There was progressive respiratory impairment necessitating non-invasive ventilatio …
All three patients shared key clinical features, including infancy/childhood onset, pronounced axial/proximal weakness, spinal rig …
FHL1-related myopathy may not be classified by reducing bodies in muscle biopsy.
Chen T, Lu X, Shi Q, Guo J, Wang H, Wang Q, Yin X, Zhang Y, Pu C, Zhou D. Chen T, et al. Neuromuscul Disord. 2020 Feb;30(2):165-172. doi: 10.1016/j.nmd.2019.11.011. Epub 2019 Nov 28. Neuromuscul Disord. 2020. PMID: 32001145
Clinical information, muscle biopsies, electromyograms and genetic testing were obtained. Muscle weakness and atrophy, spinal rigidity, and joint contracture were present in the RBM family. The XMPMA patient showed a pseudoathletic appearance with muscle weakness an …
Clinical information, muscle biopsies, electromyograms and genetic testing were obtained. Muscle weakness and atrophy, spinal rigi …
Non-dysraphic intramedullary spinal cord lipoma of the child: Report of 3 cases.
Sagenly M, Karnoub MA, Vinchon M. Sagenly M, et al. Neurochirurgie. 2023 Sep;69(5):101473. doi: 10.1016/j.neuchi.2023.101473. Epub 2023 Jul 22. Neurochirurgie. 2023. PMID: 37482183
There are no guidelines on surgical management. MATERIAL AND METHODS: We report three observations of NDSCL in children, focusing on the clinical presentation, surgical management and postoperative outcome. RESULTS: The patients, one female and two males, aged from 5 month …
There are no guidelines on surgical management. MATERIAL AND METHODS: We report three observations of NDSCL in children, focusing on …
Turning the backbone into an ankylosed concrete-like structure: Case report.
Kaissi AA, Chehida FB, Grill F, Ganger R, Kircher SG. Kaissi AA, et al. Medicine (Baltimore). 2018 Apr;97(15):e0278. doi: 10.1097/MD.0000000000010278. Medicine (Baltimore). 2018. PMID: 29642148 Free PMC article.
PATIENT CONCERNS: A 24-year-old girl has history of osteoporosis since her early childhood, associated with multiple axial and appendicular fractures and scoliosis. Recently she presented with episodes of severe back pain, spinal rigidity/stiffness with total loss o …
PATIENT CONCERNS: A 24-year-old girl has history of osteoporosis since her early childhood, associated with multiple axial and appendicular …
Management of cervical spinal fractures in ankylosing spondylitis with posterior fixation.
Taggard DA, Traynelis VC. Taggard DA, et al. Spine (Phila Pa 1976). 2000 Aug 15;25(16):2035-9. doi: 10.1097/00007632-200008150-00006. Spine (Phila Pa 1976). 2000. PMID: 10954633
Treatment with immobilization alone is often inadequate. Generalized spinal rigidity and exaggerated thoracic kyphosis may hinder anterior exposure. ...Patients were immobilized after surgery with either a cervical collar or a sternal occipital mandibular immobilizi …
Treatment with immobilization alone is often inadequate. Generalized spinal rigidity and exaggerated thoracic kyphosis may hin …
Use of global sagittal flexibility to predict proximal junctional kyphosis after spinal deformity surgery.
Eaton RG, Wang JL, Munjal V, Dhaliwal J, Maggio D, Keister A, Gibbs D, Mallory N, Sparks A, Moranville R, Xu DS, Grossbach AJ, Viljoen S. Eaton RG, et al. J Neurosurg Spine. 2023 Oct 27;40(1):99-106. doi: 10.3171/2023.8.SPINE23314. Print 2024 Jan 1. J Neurosurg Spine. 2023. PMID: 37890185
OBJECTIVE: Sagittal alignment is an important predictor of functional outcomes after surgery for adult spinal deformity (ASD). ...No changes in the reoperation rates or PROMs based on GSF were observed in the 1- or 2-year postoperative window. CONCLUSIONS: Based on …
OBJECTIVE: Sagittal alignment is an important predictor of functional outcomes after surgery for adult spinal deformity (ASD). ...No …
Selenoprotein N deficiency in mice is associated with abnormal lung development.
Moghadaszadeh B, Rider BE, Lawlor MW, Childers MK, Grange RW, Gupta K, Boukedes SS, Owen CA, Beggs AH. Moghadaszadeh B, et al. FASEB J. 2013 Apr;27(4):1585-99. doi: 10.1096/fj.12-212688. Epub 2013 Jan 16. FASEB J. 2013. PMID: 23325319 Free PMC article.
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness, spinal rigidity, and respiratory insufficiency. As with other members of the selenoprotein family, selenoprotein N incorpora …
Mutations in the human SEPN1 gene, encoding selenoprotein N (SepN), cause SEPN1-related myopathy (SEPN1-RM) characterized by muscle weakness …
16 results