[Fetoscopic myelomeningocele repair (with video)]
Guilbaud, Lucie; de Saint Denis, Timothée; Irtan, Sabine; Jouannic, Jean-Marie
In: Gynecol Obstet Fertil Senol, 2025, ISSN: 2468-7189.
@article{pmid41046909,
title = {[Fetoscopic myelomeningocele repair (with video)]},
author = {Lucie Guilbaud and Timothée de Saint Denis and Sabine Irtan and Jean-Marie Jouannic},
doi = {10.1016/j.gofs.2025.09.087},
issn = {2468-7189},
year = {2025},
date = {2025-10-01},
journal = {Gynecol Obstet Fertil Senol},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Dhombres, Ferdinand; de Saint-Denis, Timothée; Thompson, Dominic; Tahraoui-Bories, Julie; Lucano, Caterina; Rath, Ana; Mosiello, Giovanni; Jouannic, Jean-Marie; ; ; and,
In: Orphanet J Rare Dis, vol. 20, no. 1, pp. 348, 2025, ISSN: 1750-1172.
@article{pmid40629359,
title = {Revised orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)},
author = {Ferdinand Dhombres and Timothée de Saint-Denis and Dominic Thompson and Julie Tahraoui-Bories and Caterina Lucano and Ana Rath and Giovanni Mosiello and Jean-Marie Jouannic and and and and },
doi = {10.1186/s13023-025-03856-4},
issn = {1750-1172},
year = {2025},
date = {2025-07-01},
journal = {Orphanet J Rare Dis},
volume = {20},
number = {1},
pages = {348},
abstract = {BACKGROUND: The Spina Bifida and other Dysraphisms working group (SBoD WG) is an interdisciplinary group, comprising experts on spinal dysraphism from 11 European countries. In 2022, the SBoD WG was tasked by 2 European Rare Disease Networks (ERN ITHACA and ERN eUROGEN) to revise the Orphanet classification of spinal dysraphism. Over the past two decades numerous subcategories of spinal dysraphism have been described in the medical literature resulting in a proliferation of terms, numerous synonyms and variously applied definitions. In the light of this, a revision of all terms and definitions was conducted by a Delphi approach in 3 steps by neurosurgeons (fetal/paediatric/adult), urologists (paediatric/adult), rehabilitation medicine specialists, fetal medicine and perinatal imaging specialists, geneticists, pathologists, nephrologists and patient representatives, all members of the International Federation for Spina Bifida and Hydrocephalus (IFSBH).nnRESULTS: In the first instance, 39 experts reviewed and refined the terminology that could be used to describe the anatomical characteristics of all forms of SBoD. At the second stage, 24 experts established terms and unambiguous definitions for 16 skin findings, 7 bone findings and 33 spinal cord findings that were considered essential features capable of describing all forms of spinal dysraphism. In the third stage, 29 experts validated 24 spinal dysraphic anomalies using these pre-agreed findings. All terms and definitions were validated by vote with a threshold of 80% approval (abstention was permitted). No terms with disagreement were retained in the subsequent classification. The revised SBoD classification was transferred to the Orphanet nomenclature (ORPHA:823). 16 existing ORPHAcodes were deemed obsolete, 10 ORPHAcodes were updated (terms and/or textual definitions) and 25 new ORPHAcodes were created. The SBoD working group also developed a 'decision tree' for new users, to assist them in the practical aspects of applying the revised classification and designating appropriate ORPHAcodes.nnCONCLUSIONS: An update of the Orphanet Classification of spinal dysraphism was conducted by a European interdisciplinary group of experts encompassing all aspects of healthcare for patients with these disorders. This new classification, based on essential skin, bone and spinal cord findings offers a more logical and reproducible means to categorise SBoD. It is hoped that this will permit more precise disease delineation, consistent diagnostic accuracy and better prognostication.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
BACKGROUND: The Spina Bifida and other Dysraphisms working group (SBoD WG) is an interdisciplinary group, comprising experts on spinal dysraphism from 11 European countries. In 2022, the SBoD WG was tasked by 2 European Rare Disease Networks (ERN ITHACA and ERN eUROGEN) to revise the Orphanet classification of spinal dysraphism. Over the past two decades numerous subcategories of spinal dysraphism have been described in the medical literature resulting in a proliferation of terms, numerous synonyms and variously applied definitions. In the light of this, a revision of all terms and definitions was conducted by a Delphi approach in 3 steps by neurosurgeons (fetal/paediatric/adult), urologists (paediatric/adult), rehabilitation medicine specialists, fetal medicine and perinatal imaging specialists, geneticists, pathologists, nephrologists and patient representatives, all members of the International Federation for Spina Bifida and Hydrocephalus (IFSBH).nnRESULTS: In the first instance, 39 experts reviewed and refined the terminology that could be used to describe the anatomical characteristics of all forms of SBoD. At the second stage, 24 experts established terms and unambiguous definitions for 16 skin findings, 7 bone findings and 33 spinal cord findings that were considered essential features capable of describing all forms of spinal dysraphism. In the third stage, 29 experts validated 24 spinal dysraphic anomalies using these pre-agreed findings. All terms and definitions were validated by vote with a threshold of 80% approval (abstention was permitted). No terms with disagreement were retained in the subsequent classification. The revised SBoD classification was transferred to the Orphanet nomenclature (ORPHA:823). 16 existing ORPHAcodes were deemed obsolete, 10 ORPHAcodes were updated (terms and/or textual definitions) and 25 new ORPHAcodes were created. The SBoD working group also developed a ‘decision tree’ for new users, to assist them in the practical aspects of applying the revised classification and designating appropriate ORPHAcodes.nnCONCLUSIONS: An update of the Orphanet Classification of spinal dysraphism was conducted by a European interdisciplinary group of experts encompassing all aspects of healthcare for patients with these disorders. This new classification, based on essential skin, bone and spinal cord findings offers a more logical and reproducible means to categorise SBoD. It is hoped that this will permit more precise disease delineation, consistent diagnostic accuracy and better prognostication.
Dugas, Anaïs; Guilbaud, Lucie; de Saint-Denis, Timothée; Lallemant-Dudek, Pauline; Simonnet, Hina; Perre, Saskia Vande; Blondiaux, Eléonore; Garel, Catherine; Jouannic, Jean-Marie
In: Prenat Diagn, vol. 45, no. 5, pp. 668–675, 2025, ISSN: 1097-0223.
@article{pmid40237726,
title = {Outcome of Children With Prenatally Diagnosed Saccular Limited Dorsal Myeloschisis: The Importance of Accurate Diagnosis},
author = {Anaïs Dugas and Lucie Guilbaud and Timothée de Saint-Denis and Pauline Lallemant-Dudek and Hina Simonnet and Saskia Vande Perre and Eléonore Blondiaux and Catherine Garel and Jean-Marie Jouannic},
doi = {10.1002/pd.6800},
issn = {1097-0223},
year = {2025},
date = {2025-05-01},
journal = {Prenat Diagn},
volume = {45},
number = {5},
pages = {668--675},
abstract = {OBJECTIVE: To describe outcomes at 36 months of age in children with prenatally diagnosed Limited Dorsal Myeloschisis (LDM) and compared to Myelomeningocele (MMC).nnMETHOD: This was a retrospective study of all successive patients with postnatal confirmation of a prenatal diagnosis of isolated LDM who were referred to a French National Reference center from 2014 to 2023 compared with MMC cases. Postnatal evaluation at 36 months of both dysraphisms comprised standardized multidisciplinary evaluations.nnRESULTS: Of the 245 fetuses referred with suspected MMC, 19 were prenatally diagnosed with LDM. Nine children reached 36 (± 4) months of age. All were walking. Two required clean intermittent catheterization (CIC) and three required laxatives. Sphincter functions seem to be more dysfunctional in the case of sacral LDM. None were reported to have a ventricular shunt nor having neurodevelopment impairment. The LDM children differed from the MMC children in all functions with significantly more asymptomatic children in the LDM group (LDM: 5/9 vs. MMC: 0/12, p < 0.01), better motor (independent walking; LDM: 7/9 vs. MMC: 2/12; p < 0.01), urinary (need for CIC; LDM: 2/9 vs. MMC: 10/12; p < 0.01) and cognitive (neurodevelopmental impairment; LDM: 0/9 vs. MMC: 4/12, p = 0.10) functions.nnCONCLUSION: LDM show better motor, urinary, and cognitive functions than MMC.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
OBJECTIVE: To describe outcomes at 36 months of age in children with prenatally diagnosed Limited Dorsal Myeloschisis (LDM) and compared to Myelomeningocele (MMC).nnMETHOD: This was a retrospective study of all successive patients with postnatal confirmation of a prenatal diagnosis of isolated LDM who were referred to a French National Reference center from 2014 to 2023 compared with MMC cases. Postnatal evaluation at 36 months of both dysraphisms comprised standardized multidisciplinary evaluations.nnRESULTS: Of the 245 fetuses referred with suspected MMC, 19 were prenatally diagnosed with LDM. Nine children reached 36 (± 4) months of age. All were walking. Two required clean intermittent catheterization (CIC) and three required laxatives. Sphincter functions seem to be more dysfunctional in the case of sacral LDM. None were reported to have a ventricular shunt nor having neurodevelopment impairment. The LDM children differed from the MMC children in all functions with significantly more asymptomatic children in the LDM group (LDM: 5/9 vs. MMC: 0/12, p < 0.01), better motor (independent walking; LDM: 7/9 vs. MMC: 2/12; p < 0.01), urinary (need for CIC; LDM: 2/9 vs. MMC: 10/12; p < 0.01) and cognitive (neurodevelopmental impairment; LDM: 0/9 vs. MMC: 4/12, p = 0.10) functions.nnCONCLUSION: LDM show better motor, urinary, and cognitive functions than MMC.
Response to: Prenatal Diagnosis and Postnatal Outcome of Closed Spinal Dysraphism, by Bedei et al
Jouannic, Jean-Marie; Blondiaux, Eléonore; de Saint-Denis, Timothée; Lallemant, Pauline; Garel, Catherine
2025, ISSN: 1097-0223.
@misc{pmid39384428,
title = {Response to: Prenatal Diagnosis and Postnatal Outcome of Closed Spinal Dysraphism, by Bedei et al},
author = {Jean-Marie Jouannic and Eléonore Blondiaux and Timothée de Saint-Denis and Pauline Lallemant and Catherine Garel},
doi = {10.1002/pd.6685},
issn = {1097-0223},
year = {2025},
date = {2025-01-01},
journal = {Prenat Diagn},
volume = {45},
number = {1},
pages = {125--126},
keywords = {},
pubstate = {published},
tppubtype = {misc}
}
Molecular insights into myelomeningocele via proteomic analysis of amniotic fluid
Guilbaud, Lucie; Roger, Kévin; Schmidt, Andree; Chhuon, Cerina; Breimann, Stephan; Lipecka, Joanna; Dreux, Sophie; Müller, Stephan A; Zérah, Michel; Larghero, Jérôme; Jouannic, Jean-Marie; Lichtenthaler, Stefan F; Guerrera, Ida C
In: J Proteomics, pp. 105372, 2025, ISSN: 1876-7737.
@article{pmid39778765,
title = {Molecular insights into myelomeningocele via proteomic analysis of amniotic fluid},
author = {Lucie Guilbaud and Kévin Roger and Andree Schmidt and Cerina Chhuon and Stephan Breimann and Joanna Lipecka and Sophie Dreux and Stephan A Müller and Michel Zérah and Jérôme Larghero and Jean-Marie Jouannic and Stefan F Lichtenthaler and Ida C Guerrera},
doi = {10.1016/j.jprot.2024.105372},
issn = {1876-7737},
year = {2025},
date = {2025-01-01},
journal = {J Proteomics},
pages = {105372},
abstract = {Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Biochemical analysis of 61 AF samples from MMC fetuses was compared with 45 healthy fetuses' samples. Proteome analysis was conducted in 18 MMC and 18 healthy singleton fetuses, and in 5 dichorionic pregnancies with MMC fetuses and their healthy co-twins. ELISA tests were used to validate proteome results. Biochemical analysis revealed anal incontinence in 37 % of MMC cases, absent in controls (p < 0.0001). Proteomics identified 2453 quantified proteins with 39 significantly up-regulated and 10 down-regulated in the MMC group. Up-regulated proteins included ectodomains of CHL1, APLP1, SEZ6, SEZ6L, known targets of the protease BACE1. We explored the overlap of neonatal cerebrospinal fluid (CSF) and AF proteome and highlighted 411 proteins in common, mostly upregulated in MMC AF compared to controls. Our study thoroughly characterizes the AF proteome and reveals numerous proteins to be changed as a consequence of MMC. Many of these proteins are typical constituents of CSF. No difference in AF inflammation markers were observed between MMC and healthy fetuses. SIGNIFICANCE: This study provides good evidence that neuroepithelial destruction in MMC is independent of inflammation or presumed meconium toxicity.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Despite numerous studies on fetal therapy for myelomeningoceles (MMC), the pathophysiology of this malformation remains poorly understood. This study aimed to analyze the biochemical profile and proteome of amniotic fluid (AF) supernatants from MMC fetuses to explore the prenatal pathophysiology. Biochemical analysis of 61 AF samples from MMC fetuses was compared with 45 healthy fetuses’ samples. Proteome analysis was conducted in 18 MMC and 18 healthy singleton fetuses, and in 5 dichorionic pregnancies with MMC fetuses and their healthy co-twins. ELISA tests were used to validate proteome results. Biochemical analysis revealed anal incontinence in 37 % of MMC cases, absent in controls (p < 0.0001). Proteomics identified 2453 quantified proteins with 39 significantly up-regulated and 10 down-regulated in the MMC group. Up-regulated proteins included ectodomains of CHL1, APLP1, SEZ6, SEZ6L, known targets of the protease BACE1. We explored the overlap of neonatal cerebrospinal fluid (CSF) and AF proteome and highlighted 411 proteins in common, mostly upregulated in MMC AF compared to controls. Our study thoroughly characterizes the AF proteome and reveals numerous proteins to be changed as a consequence of MMC. Many of these proteins are typical constituents of CSF. No difference in AF inflammation markers were observed between MMC and healthy fetuses. SIGNIFICANCE: This study provides good evidence that neuroepithelial destruction in MMC is independent of inflammation or presumed meconium toxicity.
Guilbaud, Lucie; Carreras, Elena; Garel, Catherine; Maiz, Nerea; Dhombres, Ferdinand; Deprest, Jan; and, Jean-Marie Jouannic
In: Prenat Diagn, 2024, ISSN: 1097-0223.
@article{pmid38898590,
title = {Proposal for standardized prenatal assessment of fetal open dysraphisms by the European reference network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies (ITHACA) and eUROGEN},
author = {Lucie Guilbaud and Elena Carreras and Catherine Garel and Nerea Maiz and Ferdinand Dhombres and Jan Deprest and Jean-Marie Jouannic and },
doi = {10.1002/pd.6618},
issn = {1097-0223},
year = {2024},
date = {2024-06-01},
journal = {Prenat Diagn},
abstract = {Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Open dysraphisms, that is, myelomeningocele and myeloschisis, are rare diseases associated with a risk of severe disability, including lower limb motor and sensory deficiency, sphincter deficiency, and potential intellectual deficiency. Open dysraphism is diagnosed in Europe in 93.5% of cases. In case of suspicion of fetal open dysraphism, a detailed fetal morphologic assessment is required to confirm the diagnosis and exclude associated structural anomalies, as well as genetic assessment. In case of isolated fetal open dysraphism, assessment of prognosis is based on fetal imaging including the level of the lesion, the presence or not of a sac, the presence and nature of intra cranial anomalies, and the anatomical and functional evaluation of the lower extremities. Based on these biomarkers, a personalized prognosis as well as comprehensive information about prenatal management alternatives will allow parents to decide on further management options. Standardization of prenatal assessment is essential to compare outcomes with benchmark data and make assessment of surgical innovation possible. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated open dysraphism.
Langlais, Tristan; Skalli, Wafa; du Cluzel, Xavier; Mainard, Nicolas; George, Samuel; Gajny, Laurent; Vialle, Raphael; Dubousset, Jean; Vergari, Claudio
In: Spine Deform, vol. 12, no. 3, pp. 689–697, 2024, ISSN: 2212-1358.
@article{pmid38347377,
title = {Spinal axial torque assessment after surgical correction in adolescent idiopathic scoliosis: a new approach to 3D barycentremetry and mass distribution based on biplanar radiographs},
author = {Tristan Langlais and Wafa Skalli and Xavier du Cluzel and Nicolas Mainard and Samuel George and Laurent Gajny and Raphael Vialle and Jean Dubousset and Claudio Vergari},
doi = {10.1007/s43390-023-00816-5},
issn = {2212-1358},
year = {2024},
date = {2024-05-01},
journal = {Spine Deform},
volume = {12},
number = {3},
pages = {689--697},
abstract = {PURPOSE: Barycentremetry in adolescent idiopathic scoliosis (AIS) allows the distribution of masses and their loading of the spine to be studied. In particular, the axial torque on the spine has been studied in AIS, but not after surgical correction. Spinal axial torque was studied in AIS before and after surgery.nnMETHODS: All AIS (Lenke 1 and 3) who underwent posterior spinal fusion surgery at our center in 2019 were included retrospectively. AIS underwent frontal and sagittal biplanar radiographs in the free-standing position before surgery, 4 months after surgery, and at the last follow-up. Their spine and external envelope were reconstructed with validated methods. Spinal axial torque at the apex and the upper and lower end vertebra was calculated. Finally, the preoperative and postoperative values were compared to a previously published reference corridor for asymptomatic subjects.nnRESULTS: Twenty-nine patients were included (54 ± 11° Cobb angle, 15 ± 2 years old at surgery). The surgical procedure decreased the Cobb angle by 36° ± 11° and decreased the spinal axial torque at the upper end vertebra by 2.5 N/m (95% CI = [1.9; 3]; p < 0.001), at the apex by 0.6 N/m (95% CI = [0.4; 1]; p = 0.004), at the lower end vertebra by 2 N/m (95% CI = [1.5; 2.8]; p < 0.001). Compared to 95th percentile of torque, which was previously evaluated in asymptomatic subjects, more than 90% of patients had higher values at the upper and lower end vertebrae before surgery. Postoperatively, 62% of patients still had higher torque at the upper end vertebra than asymptomatic subjects, while only 38% patients showed abnormal values at the lower junction.nnCONCLUSION: Results of this study confirm that AIS patients show abnormally high spinal axial torque, especially at the end vertebrae, and that this parameter is normalized postoperatively for only a small number of patients.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
PURPOSE: Barycentremetry in adolescent idiopathic scoliosis (AIS) allows the distribution of masses and their loading of the spine to be studied. In particular, the axial torque on the spine has been studied in AIS, but not after surgical correction. Spinal axial torque was studied in AIS before and after surgery.nnMETHODS: All AIS (Lenke 1 and 3) who underwent posterior spinal fusion surgery at our center in 2019 were included retrospectively. AIS underwent frontal and sagittal biplanar radiographs in the free-standing position before surgery, 4 months after surgery, and at the last follow-up. Their spine and external envelope were reconstructed with validated methods. Spinal axial torque at the apex and the upper and lower end vertebra was calculated. Finally, the preoperative and postoperative values were compared to a previously published reference corridor for asymptomatic subjects.nnRESULTS: Twenty-nine patients were included (54 ± 11° Cobb angle, 15 ± 2 years old at surgery). The surgical procedure decreased the Cobb angle by 36° ± 11° and decreased the spinal axial torque at the upper end vertebra by 2.5 N/m (95% CI = [1.9; 3]; p < 0.001), at the apex by 0.6 N/m (95% CI = [0.4; 1]; p = 0.004), at the lower end vertebra by 2 N/m (95% CI = [1.5; 2.8]; p < 0.001). Compared to 95th percentile of torque, which was previously evaluated in asymptomatic subjects, more than 90% of patients had higher values at the upper and lower end vertebrae before surgery. Postoperatively, 62% of patients still had higher torque at the upper end vertebra than asymptomatic subjects, while only 38% patients showed abnormal values at the lower junction.nnCONCLUSION: Results of this study confirm that AIS patients show abnormally high spinal axial torque, especially at the end vertebrae, and that this parameter is normalized postoperatively for only a small number of patients.
Athiel, Yoann; Jouannic, Jean-Marie; Mauffré, Vincent; Dehan, Coralie; Adam, Clovis; Blot, Stéphane; Lallemant, Pauline; Denis, Timothé De Saint; Larghero, Jérôme; Nasone, Justine; Guilbaud, Lucie
In: BJOG, vol. 131, no. 6, pp. 759–767, 2024, ISSN: 1471-0528.
@article{pmid37492999,
title = {Allogenic umbilical cord-derived mesenchymal stromal cells improve motor function in prenatal surgical repair of myelomeningocele: An ovine model study},
author = {Yoann Athiel and Jean-Marie Jouannic and Vincent Mauffré and Coralie Dehan and Clovis Adam and Stéphane Blot and Pauline Lallemant and Timothé De Saint Denis and Jérôme Larghero and Justine Nasone and Lucie Guilbaud},
doi = {10.1111/1471-0528.17624},
issn = {1471-0528},
year = {2024},
date = {2024-05-01},
journal = {BJOG},
volume = {131},
number = {6},
pages = {759--767},
abstract = {OBJECTIVE: To investigate the effects of an adjuvant allogenic umbilical cord mesenchymal stromal cell (UC-MSC) patch applied during fetal surgery on motor and sphincter function in the ovine MMC model.nnDESIGN: MMC defects were surgically created at 75 days of gestation and repaired 14 days later.nnPOPULATION: Ovine MMC model: fetal lambs.nnMETHODS: We compared lambs that received a UC-MSC patch with a control group of lambs that received an acellular patch.nnMAIN OUTCOME MEASURES: Clinical neurological assessment was performed at 2 and 24 hours of life and included determination of the Sheep Locomotor Rating scale (SLR), which has been validated in the ovine MMC model. Electrophysical examinations, spine scans and histological analyses were also performed.nnRESULTS: Of the 13 operated lambs, nine were born alive: five had of these had received a UC-MSC patch and four an acellular patch. At 24 hours of life, lambs in the UC-MSC group had a significantly higher score (14 versus 5, P = 0.04). Amyotrophy was significantly more common in the control group (75% versus 0%, P = 0.02). All the lambs in the control group and none of those in the UC-MSC group were incontinent. No significant differences were observed between the UC-MSC and control groups in terms of the presence of spontaneous EMG activity, nerve conduction or spinal evoked potentials. In the microscopic examination, lambs in the UC-MSC group had less fibrosis between the spinal cord and the dermis (mean thickness, 453 versus 3921 μm, P = 0.03) and around the spinal cord (mean thickness, 47 versus 158 μm, P < 0.001). Examination of the spinal cord in the area of the MMC defect showed a higher large neuron density in the UC-MSC group (14.5 versus 5.6 neurons/mm, P < 0.001). No tumours were observed.nnCONCLUSIONS: Fetal repair of MMC using UC-MSC patches improves motor and sphincter function as well as spinal preservation and reduction of fibrosis.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
OBJECTIVE: To investigate the effects of an adjuvant allogenic umbilical cord mesenchymal stromal cell (UC-MSC) patch applied during fetal surgery on motor and sphincter function in the ovine MMC model.nnDESIGN: MMC defects were surgically created at 75 days of gestation and repaired 14 days later.nnPOPULATION: Ovine MMC model: fetal lambs.nnMETHODS: We compared lambs that received a UC-MSC patch with a control group of lambs that received an acellular patch.nnMAIN OUTCOME MEASURES: Clinical neurological assessment was performed at 2 and 24 hours of life and included determination of the Sheep Locomotor Rating scale (SLR), which has been validated in the ovine MMC model. Electrophysical examinations, spine scans and histological analyses were also performed.nnRESULTS: Of the 13 operated lambs, nine were born alive: five had of these had received a UC-MSC patch and four an acellular patch. At 24 hours of life, lambs in the UC-MSC group had a significantly higher score (14 versus 5, P = 0.04). Amyotrophy was significantly more common in the control group (75% versus 0%, P = 0.02). All the lambs in the control group and none of those in the UC-MSC group were incontinent. No significant differences were observed between the UC-MSC and control groups in terms of the presence of spontaneous EMG activity, nerve conduction or spinal evoked potentials. In the microscopic examination, lambs in the UC-MSC group had less fibrosis between the spinal cord and the dermis (mean thickness, 453 versus 3921 μm, P = 0.03) and around the spinal cord (mean thickness, 47 versus 158 μm, P < 0.001). Examination of the spinal cord in the area of the MMC defect showed a higher large neuron density in the UC-MSC group (14.5 versus 5.6 neurons/mm, P < 0.001). No tumours were observed.nnCONCLUSIONS: Fetal repair of MMC using UC-MSC patches improves motor and sphincter function as well as spinal preservation and reduction of fibrosis.
Langlais, Tristan; Vergari, Claudio; Rougereau, Gregoire; Gaume, Mathilde; Gajny, Laurent; Abelin-Genevois, Kariman; Bernard, Jean Claude; Hu, Zongshan; Cheng, Jack Chun Yiu; Chu, Winnie Chiu Wing; Assi, Ayman; Karam, Mohamad; Ghanem, Ismat; Bassani, Tito; Galbusera, Fabio; Sconfienza, Luca Maria; Brayda-Bruno, Marco; Courtois, Isabelle; Ebermeyer, Eric; Vialle, Raphael; Dubousset, Jean; Skalli, Wafa
In: Eur Spine J, vol. 33, no. 4, pp. 1665–1674, 2024, ISSN: 1432-0932.
@article{pmid38407613,
title = {Assessment of malalignment at early stage in adolescent idiopathic scoliosis: a longitudinal cohort study},
author = {Tristan Langlais and Claudio Vergari and Gregoire Rougereau and Mathilde Gaume and Laurent Gajny and Kariman Abelin-Genevois and Jean Claude Bernard and Zongshan Hu and Jack Chun Yiu Cheng and Winnie Chiu Wing Chu and Ayman Assi and Mohamad Karam and Ismat Ghanem and Tito Bassani and Fabio Galbusera and Luca Maria Sconfienza and Marco Brayda-Bruno and Isabelle Courtois and Eric Ebermeyer and Raphael Vialle and Jean Dubousset and Wafa Skalli},
doi = {10.1007/s00586-024-08178-w},
issn = {1432-0932},
year = {2024},
date = {2024-04-01},
journal = {Eur Spine J},
volume = {33},
number = {4},
pages = {1665--1674},
abstract = {INTRODUCTION: Our objective was to assess abnormalities of the odontoid-hip axis (OD-HA) angle in a mild scoliotic population to determine whether screening for malalignment would help predict the distinction between progressive and stable adolescent idiopathic scoliosis (AIS) at early stage.nnMATERIALS AND METHODS: All patients (non-scoliotic and AIS) underwent a biplanar X-ray between 2013 and 2020. In AIS, inclusion criteria were Cobb angle between 10° and 25°; Risser sign lower than 3; age higher than 10 years; and no previous treatment. A 3D spine reconstruction was performed, and the OD-HA was computed automatically. A reference corridor for OD-HA values in non-scoliotic subjects was calculated as the range [5th-95th percentiles]. A severity index, helping to distinguish stable and progressive AIS, was calculated and weighted according to the OD-HA value.nnRESULTS: Eighty-three non-scoliotic and 205 AIS were included. The mean coronal and sagittal OD-HA angles in the non-scoliotic group were 0.2° and -2.5°, whereas in AIS values were 0.3° and -0.8°, respectively. For coronal and sagittal OD-HA, 27.5% and 26.8% of AIS were outside the reference corridor compared with 10.8% in non-scoliotic (OR = 3.1 and 3). Adding to the severity index a weighting factor based on coronal OD-HA, for thoracic scoliosis, improved the positive predictive value by 9% and the specificity by 13%.nnCONCLUSION: Analysis of OD-HA suggests that AIS patients are almost three times more likely to have malalignment compared with a non-scoliotic population. Furthermore, analysis of coronal OD-HA is promising to help the clinician distinguish between stable and progressive thoracic scoliosis.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
INTRODUCTION: Our objective was to assess abnormalities of the odontoid-hip axis (OD-HA) angle in a mild scoliotic population to determine whether screening for malalignment would help predict the distinction between progressive and stable adolescent idiopathic scoliosis (AIS) at early stage.nnMATERIALS AND METHODS: All patients (non-scoliotic and AIS) underwent a biplanar X-ray between 2013 and 2020. In AIS, inclusion criteria were Cobb angle between 10° and 25°; Risser sign lower than 3; age higher than 10 years; and no previous treatment. A 3D spine reconstruction was performed, and the OD-HA was computed automatically. A reference corridor for OD-HA values in non-scoliotic subjects was calculated as the range [5th-95th percentiles]. A severity index, helping to distinguish stable and progressive AIS, was calculated and weighted according to the OD-HA value.nnRESULTS: Eighty-three non-scoliotic and 205 AIS were included. The mean coronal and sagittal OD-HA angles in the non-scoliotic group were 0.2° and -2.5°, whereas in AIS values were 0.3° and -0.8°, respectively. For coronal and sagittal OD-HA, 27.5% and 26.8% of AIS were outside the reference corridor compared with 10.8% in non-scoliotic (OR = 3.1 and 3). Adding to the severity index a weighting factor based on coronal OD-HA, for thoracic scoliosis, improved the positive predictive value by 9% and the specificity by 13%.nnCONCLUSION: Analysis of OD-HA suggests that AIS patients are almost three times more likely to have malalignment compared with a non-scoliotic population. Furthermore, analysis of coronal OD-HA is promising to help the clinician distinguish between stable and progressive thoracic scoliosis.
Garel, Juliette; Rossi, Andrea; Blondiaux, Eléonore; Cassart, Marie; Hoffmann, Chen; Garel, Catherine
In: Pediatr Radiol, vol. 54, no. 4, pp. 548–561, 2024, ISSN: 1432-1998.
@article{pmid37803194,
title = {Prenatal imaging of the normal and abnormal spinal cord: recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee},
author = {Juliette Garel and Andrea Rossi and Eléonore Blondiaux and Marie Cassart and Chen Hoffmann and Catherine Garel},
doi = {10.1007/s00247-023-05766-8},
issn = {1432-1998},
year = {2024},
date = {2024-04-01},
journal = {Pediatr Radiol},
volume = {54},
number = {4},
pages = {548--561},
abstract = {Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis. In this article, recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee will be presented. The aim of this paper is to review the imaging features of the normal and abnormal fetal spinal cord, to clarify the prenatal classification of congenital spinal cord anomalies and to provide guidance in their reporting.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Spinal dysraphisms are amenable to diagnosis in utero. The prognosis and the neonatal management of these conditions differ significantly depending on their types, mainly on the distinction between open and closed defects. A detailed evaluation not only of the fetal spine, but also of the brain, skull, and lower limbs is essential in allowing for the right diagnosis. In this article, recommendations from the Fetal Task Force of the European Society of Paediatric Radiology (ESPR) and the European Society of Neuroradiology (ESNR) Pediatric Neuroradiology Committee will be presented. The aim of this paper is to review the imaging features of the normal and abnormal fetal spinal cord, to clarify the prenatal classification of congenital spinal cord anomalies and to provide guidance in their reporting.