Publications by authors named "Mathilde Weber"

Objective: To assess the frequency of fetal therapy for fetuses with congenital pulmonary malformations (CPMs) and to investigate their short-term outcomes.

Method: The study population included 435 singleton fetuses diagnosed with CPMs from a national population-based cohort study in France in 2015-2018. Information was obtained from medical records on CPM volume ratio (CVR), signs of compression, fetal therapy and perinatal outcomes.

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Article Synopsis
  • Impairment of genioglossus control is common in non- or mildly obese patients with obstructive sleep apnea syndrome (OSAS), affecting tongue movement even while awake.
  • The study assessed tongue motor skills using the MBLF test in participants, comparing those with moderate-to-severe OSAS to those with mild or no OSAS, revealing significantly lower scores in the former group.
  • Findings suggest that evaluating tongue function could be an effective screening tool to identify patients with moderate-to-severe OSAS, aiding in the decision for further sleep studies.
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The recent finding that some patients with fetal akinesia deformation sequence (FADS) carry variants in the TUBB2B gene has prompted us to add to the existing literature a first description of two fetal FADS cases carrying TUBA1A variants. Hitherto, only isolated cortical malformations have been described with TUBA1A mutation, including microlissencephaly, lissencephaly, central pachygyria and polymicrogyria-like cortical dysplasia, generalized polymicrogyria cortical dysplasia, and/or the "simplified" gyral pattern. The neuropathology of our fetal cases shows several common features of tubulinopathies, in particular, the dysmorphism of the basal ganglia, as the most pathognomonic sign.

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Purpose Of The Study: The purpose of our study was to investigate the effects of ovine umbilical cord-derived mesenchymal stromal cells (UC-MSCs) seeded in a fibrin patch as an adjuvant therapy for fetal myelomeningocele repair in the ovine model.

Materials And Methods: MMC defects were surgically created at 75 days of gestation and repaired 15 days later with UC-MSCs patch or an acellular patch. At birth, motor function, tail movements, and voiding abilities were recorded.

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