@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}

}

@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}

}

@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}

}