Closed neural tube defects in children with caudal regression

Jeelani, Yasser; Mosich, Gina M.; McComb, J. Gordon

doi:10.1007/s00381-013-2119-3

Cited by 12 publications

(7 citation statements)

References 17 publications

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“…La agenesia caudal es un desorden complejo del desarrollo espinal, que no involucra únicamente las alteraciones del sacro y cóccix, sino también los componentes neural, gastrointestinal y urológico. Tiene su origen embriológico en la alteración del desarrollo de la eminencia caudal, la notocorda caudal y neurulación secundaria, lo que explica la gran variedad de fenotipos de la enfermedad (1)(2)(3) . Puede presentarse como ausencia parcial o total de los cuerpos vertebrales del cóccix, sacro, columna lumbar o torácica, con un grado variable e inconstante de malformaciones espinales, nefrourológicas, anorrectales o cardiacas.…”

Section: Discussionunclassified

“…Puede presentarse como ausencia parcial o total de los cuerpos vertebrales del cóccix, sacro, columna lumbar o torácica, con un grado variable e inconstante de malformaciones espinales, nefrourológicas, anorrectales o cardiacas. En ocasiones, forma parte de síndromes tales como VATER (siglas en inglés de vertebral anomalies, anal atresia, tracheo-esophageal fistula, renal/radial anomalies), OEIS (omphalocele, cloacal exstrophy, imperforate anus, spinal defects) y Currarino (triada de agenesia sacra, masa presacra y anomalía anorrectal) (1)(2)(3) .…”

Section: Discussionunclassified

“…Así también, Enami-Naeini, en una cohorte de 50 pacientes, encontró 44 con algún tipo de disrafismo espinal, cono medular anclado en 29 casos y 12 con lipomielomeningocele (10) . Jeelani, en el análisis retrospectivo de 17 años de pacientes pediátricos de agenesia caudal con disrafismo espinal cerrado, informa de 22 casos, 13 con diagnóstico en el primer año de vida, principalmente en relación a VACTER o OEIS; el disrafismo cerrado más frecuente fue el cono medular anclado (14 casos), principalmente de presentación en adolescentes; en cambio, las malformaciones lipomatosas con cono medular anclado (8 casos) fueron diagnosticadas en menores de un año (3) .…”

Section: Discussionunclassified

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Agenesia caudal con disrafismo espinal cerrado, reporte de un caso

Paredes

Caballero

2020

Rev peru ginecol obstet.

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La agenesia caudal es una patología poco frecuente; es difícil su diagnóstico y evaluación fetal. La presencia de disrafismo espinal cerrado a nivel del sacro debe obligarnos a evaluar la anatomía del sacro. La visualización del cono medular es una forma muy útil en la evaluación y descarte de disrafismo espinal cerrado y agenesia caudal. Comunicamos un caso poco frecuente de agenesia caudal.

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Section: Discussionunclassified

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Agenesia caudal con disrafismo espinal cerrado, reporte de un caso

Paredes

Caballero

2020

Rev peru ginecol obstet.

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“…At present, it is believed that the main mechanism of NTDs is abnormal closure of neural tube. Among them, congenital spina bi da aperta (SBA) is the most common [1]. The etiology and pathogenesis of SBA are not clear, and it is generally believed that a variety of abnormal gene regulation and environmental harmful factors take part in the process of embryonic development [2].…”

Section: Introductionmentioning

confidence: 99%

Transfection of STAT3 Overexpression Plasmid Mediated by Recombinant Lentivirus Promotes Differentiation of Bone Marrow Mesenchymal Stem Cells Into Neural Cells in Fetal Rats With Spina Bifida Aperta

Jiang

Dai

Yin

et al. 2021

Preprint

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Background To investigate the influence of signal transducer and activator of transcription-3 (STAT3) on spinal cord tissue grafts of rat fetuses with spina bifida aperta. In particular, we wished to determine if STAT3 overexpression plasmid transfection would increase survival of spinal cord transplantation to improve therapeutic efficiency. Methods The fetal rat model of spina bifida aperta was established by retinoic acid and treated by microsurgical injection of stem cells. They were divided into blank control group (n = 12), negative control group (n = 10) and experimental group (n = 11). The optical density (OD) value of BMSCs viability was determined by Cell Counting Kit-8 (CCK-8). The expression of STAT3, pSTAT3, nerve markers (Glial fibrillary acidic protein, Neuron-specific enolase, Neurofilament and Nestin) and apoptosis related factors (Caspase 8 and Bcl-2) were tested by the method of real-time PCR and Western blot. All statistical analyses were performed using SPSS version 20.0 software. One-way analysis of variance was used to analyze differences among three or more groups. The data are presented as the mean ± standard deviation from at least three independent experiments. P < 0.05 was considered statistically significant. Results OD value in experimental group was the highest at 8 hours after transplantation by CCK-8, and then gradually decreased, which was statistically significant compared with blank control group and negative control group (P < 0.05). There was no statistical difference in OD peak time and value between blank control group and negative control group. The expression levels of pSTAT3, Glial fibrillary acidic protein, Neuron-specific enolase, Neurofilament and Nestin in experimental group were remarkably higher than those in blank control group and negative control group (P < 0.05), but STAT3 expression in experimental group were statistically decreased (P < 0.05). The relative expression levels of Caspase-8 and Bcl-2 in experimental group were tremendously lower than those in blank control group and negative control group (P < 0.05). Conclusion Transfection of recombinant lentivirus mediated STAT3 overexpression plasmid with BMSCs can improve the efficiency of transforming into neural cells and provide new seed cells for the treatment of congenital spina bifida aperta.

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“…At present, it is believed that the main mechanism of NTDs is abnormal closure of neural tube. Among them, congenital spina bi da aperta is the most common [1]. The etiology and pathogenesis of SBA are not clear, and it is generally believed that a variety of abnormal gene regulation and environmental harmful factors take part in the process of embryonic development [2].…”

Section: Introductionmentioning

confidence: 99%

STAT3 Regulates the Pathogenesis and Bone Mesenchymal Stem Cells Transplantation of Spina Bifida Aperta Through Caspase-8

Jiang¹,

Dai²,

Yin³

et al. 2020

Preprint

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Objective: To investigate the influence of signal transducer and activator of transcription-3 (STAT3) on spinal cord tissue grafts of rat fetuses with spina bifida aperta. In particular, we wished to determine if STAT3 would be related to the pathogenesis of spina bifida aperta (SBA) and permit increased survival of spinal cord transplants to improve therapeutic efficiency of cellular transplantation from 20-day pregnant (E20) rats. Method: Spina bifida aperta were induced with a single intragastric retinoic acid (140 mg/kg body weight) administration on E10. STAT3 and caspase-8 expression, caspase-8 positive cells by immunofluorescence on 14, 15, 16 and 17 day in spinal cord of rat fetuses with control group and spina bifida aperta group are analysed. The pregnant rats received fetal surgery and microinjection of Mesenchymal Stem Cells (MSCs) after STAT3 transfection on 16-day pregnant (E16), 17-day pregnant (E17) and 18-day pregnant (E18), P0, P1-6 and to P7-12 of cell passages as well as different injected cell number, then sacrificed on 20-day pregnant (E20) for spine sample collection. The Number of each group was not less than seven. The spinal cord samples were collected directly to detect survival rates of MSCs and caspase-8 expression. Results: The developmental change in caspase-8 expression of spina bifida aperta was notably increased to the top on E15 compared with no SBA fetuses with Retinoic Acid. STAT3 expression in SBA rat fetuses gradually decreased with embryonic development between E14 and E15, E15 dropped down to bottom. Specifically, the number of caspase-8 positive cells on E15 in spinal cord with SBA rat fetuses was the most; and from E16, the positive cells began to decrease. Compared with STAT3 non-transfection group, MSCs combined with STAT3 transfection on E18, P7-12 and medium injection cell number can statistically improve the success rate of transplantation. In addition, caspase-8 mRNA and protein levels were significantly decreased in STAT3 transfection transplantation contrast for SBA of cellular culture medium and STAT3 non-transfection transplantation. Conclusions: STAT3 may be associated with the pathogenesis of spina bifida aperta. Furthermore, MSCs transplantation after STAT3 transfection can increase survival rates and reduce apoptosis in the spinal column through caspase-8.

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Closed neural tube defects in children with caudal regression

Abstract: The frequent finding of a closed NTD associated with major CR abnormalities, even in the absence of any cutaneous markers for dysraphism, recommends that infants with CR undergo a MRI screening in early infancy to exclude the presence of a closed NTD.

Cited by 12 publications

References 17 publications

Agenesia caudal con disrafismo espinal cerrado, reporte de un caso

Agenesia caudal con disrafismo espinal cerrado, reporte de un caso

Transfection of STAT3 Overexpression Plasmid Mediated by Recombinant Lentivirus Promotes Differentiation of Bone Marrow Mesenchymal Stem Cells Into Neural Cells in Fetal Rats With Spina Bifida Aperta

STAT3 Regulates the Pathogenesis and Bone Mesenchymal Stem Cells Transplantation of Spina Bifida Aperta Through Caspase-8

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