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Armando Cama - One of the best experts on this subject based on the ideXlab platform.
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Spinal Lipoma as a Dysembryogenetic Anomaly: Four Unusual Cases of Ectopic Iliac Rib within the Spinal Lipoma
Birth Defects Research Part A: Clinical and Molecular Teratology, 2016Co-Authors: Andrea Accogli, Marco Pavanello, Patrizia Accorsi, Patrizia De Marco, Elisa Merello, Mattia Pacetti, Paolo Nozza, Chiara Fiorillo, Lorenzo Pinelli, Armando CamaAbstract:Background: Congenital Spinal Lipomas are closed Spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple Lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the Lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the Spinal Lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the Lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion: We expand the clinical spectrum of fibrocartilaginous anomalies associated with Spinal Lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in Spinal Lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype.
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Spinal Lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the Spinal Lipoma.
Birth defects research. Part A Clinical and molecular teratology, 2016Co-Authors: Andrea Accogli, Marco Pavanello, Patrizia Accorsi, Patrizia De Marco, Elisa Merello, Mattia Pacetti, Paolo Nozza, Chiara Fiorillo, Lorenzo Pinelli, Armando CamaAbstract:Background Congenital Spinal Lipomas are closed Spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple Lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the Lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the Spinal Lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the Lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion We expand the clinical spectrum of fibrocartilaginous anomalies associated with Spinal Lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in Spinal Lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype. Birth Defects Research (Part A) 106:530–535, 2016. © 2016 Wiley Periodicals, Inc.
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long term urologic outcome in patients with caudal regression syndrome compared with meningomyelocele and Spinal cord Lipoma
Journal of Pediatric Surgery, 2008Co-Authors: Michele Torre, P Buffa, Vincenzo Jasonni, Armando CamaAbstract:Abstract Background/Purpose The long-term urologic outcome in a large series of patients with neural tube defects was evaluated. Methods The following clinical parameters in 398 patients ranging from 1 to 37 years of age—69 with caudal regression syndrome (CRS), 244 with meningomyelocele (MMC), and 85 with Spinal Lipoma (SL)—were studied: congenital renal anomalies, renal function, vesico-ureteric reflux, upper tract dilatation, urodynamic pattern, and urinary continence. Results Single kidney was much more frequent in CRS (20.3%), compared with MMC (1.2%) and SL (0%). Vesico-ureteric reflux was found in 37.7% of patients with CRS, 43.0% of MMC, and 21.2% of SL. Patients with CRS had a higher risk of impaired renal function (8.7%), compared with MMC (5.3%) and SL (1.2%). Neuropathic bladder was found in 61% of patients with CRS, 98% of MMC, and 42% of SL. Among them, clean intermittent catheterization and drugs allowed 30% of patients with CRS, 45% of MMC, and 71% of SL to be dry for more than 4 hours. Conclusions Diagnosis influences the urologic outcome in neural tube defect. In CRS, the incidence of renal agenesis and vesico-ureteric reflux was unexpectedly high. The risk of renal damage and, in those with neuropathic bladder, of urinary incontinence, was similar to patients with MMC.
Robert J. Bollo - One of the best experts on this subject based on the ideXlab platform.
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Currarino syndrome and Spinal dysraphism.
Journal of Neurosurgery, 2014Co-Authors: Matthew J. Kole, Jared Fridley, Andrew Jea, Robert J. BolloAbstract:Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult Spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural Spinal Lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult Spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult Spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a Lipoma and lower among those with a teratoma or anterior meningocele.
Kyuchang Wang - One of the best experts on this subject based on the ideXlab platform.
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a rat model of chronic syringomyelia induced by epidural compression of the lumbar Spinal cord
Journal of Neurosurgery, 2017Co-Authors: Ji Yeoun Lee, Shin Won Kim, Saet Pyoul Kim, Hyeonjin Kim, Jung Eun Cheon, Seungki Kim, Sun Ha Paek, Dachling Pang, Kyuchang WangAbstract:OBJECTIVEThere has been no established animal model of syringomyelia associated with lumbosacral Spinal Lipoma. The research on the pathophysiology of syringomyelia has been focused on Chiari malformation, trauma, and inflammation. To understand the pathophysiology of syringomyelia associated with occult Spinal dysraphism, a novel animal model of syringomyelia induced by chronic mechanical compression of the lumbar Spinal cord was created.METHODSThe model was made by epidural injection of highly concentrated paste-like kaolin solution through windows created by partial laminectomy of L-1 and L-5 vertebrae. Behavioral outcome in terms of motor (Basso-Beattie-Bresnahan score) and urinary function was assessed serially for 12 weeks. Magnetic resonance images were obtained in some animals to confirm the formation of a syrinx and to monitor changes in its size. Immunohistochemical studies, including analysis for glial fibrillary acidic protein, NeuN, CC1, ED-1, and caspase-3, were done.RESULTSBy 12 weeks after...
Andrea Accogli - One of the best experts on this subject based on the ideXlab platform.
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Spinal Lipoma as a Dysembryogenetic Anomaly: Four Unusual Cases of Ectopic Iliac Rib within the Spinal Lipoma
Birth Defects Research Part A: Clinical and Molecular Teratology, 2016Co-Authors: Andrea Accogli, Marco Pavanello, Patrizia Accorsi, Patrizia De Marco, Elisa Merello, Mattia Pacetti, Paolo Nozza, Chiara Fiorillo, Lorenzo Pinelli, Armando CamaAbstract:Background: Congenital Spinal Lipomas are closed Spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple Lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the Lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the Spinal Lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases: We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the Lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion: We expand the clinical spectrum of fibrocartilaginous anomalies associated with Spinal Lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in Spinal Lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype.
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Spinal Lipoma as a dysembryogenetic anomaly: Four unusual cases of ectopic iliac rib within the Spinal Lipoma.
Birth defects research. Part A Clinical and molecular teratology, 2016Co-Authors: Andrea Accogli, Marco Pavanello, Patrizia Accorsi, Patrizia De Marco, Elisa Merello, Mattia Pacetti, Paolo Nozza, Chiara Fiorillo, Lorenzo Pinelli, Armando CamaAbstract:Background Congenital Spinal Lipomas are closed Spinal dysraphisms belonging to the neural tube defects (NTDs) group. They include a broad spectrum of lesions ranging from simple Lipomas of the filum terminale to complex malformations. On histological evaluation, various tissue components of ectodermal, mesodermal or endodermal origin are found within the Lipomas, with prevalence for nerves and striated muscle and, more rarely, cartilage and bone. Overall, rib malformations have been occasionally observed in patients with NTDs and in NTD mouse models. However, an ectopic rib arising within the Spinal Lipoma and articulating with the iliac crest has not been reported in either animal models or in humans. Cases We describe four patients affected by lipomyeloschisis or lipomyelomeningocele, with an unusual fibrocartilaginous protuberance arising within the Lipoma and connecting to one iliac crest, strongly resembling an ectopic rib. Histological evaluation confirmed the presence of cartilaginous tissue. Conclusion We expand the clinical spectrum of fibrocartilaginous anomalies associated with Spinal Lipoma, suggesting the presence of an ectopic rib as a new possible phenotype in NTDs. A careful analysis by neuroradiologists and pathologists should be performed in Spinal Lipomas to assess the presence of an ectopic rib or other uncommon developmental anomalies. Furthermore, molecular studies are required to detect the genetic cause of this unusual phenotype. Birth Defects Research (Part A) 106:530–535, 2016. © 2016 Wiley Periodicals, Inc.
Matthew J. Kole - One of the best experts on this subject based on the ideXlab platform.
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Currarino syndrome and Spinal dysraphism.
Journal of Neurosurgery, 2014Co-Authors: Matthew J. Kole, Jared Fridley, Andrew Jea, Robert J. BolloAbstract:Currarino syndrome is a rare constellation of congenital anomalies characterized by the triad of sacral dysgenesis, presacral mass, and anorectal malformation. It is frequently associated with other congenital anomalies, often including occult Spinal dysraphism. Mutations in the MNX1 gene are identified in the majority of cases. The authors report a rare case of Currarino syndrome in an infant with tethered cord syndrome and a dorsal lipomyelomeningocele continuous with a presacral intradural Spinal Lipoma, in addition to an imperforate anus and a scimitar sacrum. They review the literature to highlight patterns of occult Spinal dysraphism in patients with Currarino syndrome and their relationship to tethered cord syndrome. Approximately 60% of the patients with Currarino syndrome reported in the literature have an occult Spinal dysraphism. Published studies suggest that the risk of tethered cord syndrome may be higher among patients with a Lipoma and lower among those with a teratoma or anterior meningocele.