Publications by authors named "Bourgon N"

Article Synopsis
  • Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
  • A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
  • Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
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Background: The treatment of congenital cytomegalovirus (CMV) infection is usually administered to neonates after birth; however, it can be anticipated during the prenatal period by treating pregnant women in order to reduce the severity of the congenital disease. The most commonly used treatment for CMV during pregnancy is valaciclovir; however, valganciclovir has a higher potency against CMV and is the first choice for neonates with congenital CMV disease.

Objectives: We investigated neonatal and maternal safety of tertiary prevention in infected fetuses showing ultrasound features of infection using valganciclovir.

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  • - TOKAS (Tonne-Kalscheuer syndrome) is a rare genetic disorder linked to multiple congenital anomalies, predominantly affecting males, and only 7 prenatal cases were previously documented among 41 patients.
  • - A study identified 11 new cases from 6 French families through collaboration, revealing common features like diaphragmatic hernia, sex development differences, and various malformations, along with previously unreported conditions.
  • - This research marks the first comprehensive fetal cohort for TOKAS, enhancing understanding of its clinical traits and genetic variants, with a significant recurrence of a specific genetic mutation noted in many cases.
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The stable isotope composition of zinc (δ66Zn), which is an essential trace metal for many biological processes in vertebrates, is increasingly used in ecological, archeological, and paleontological studies to assess diet and trophic level discrimination among vertebrates. However, the limited understanding of dietary controls and isotopic fractionation processes on Zn isotope variability in animal tissues and biofluids limits precise dietary reconstructions. The current study systematically investigates the dietary effects on Zn isotope composition in consumers using a combined controlled feeding experiment and box-modeling approach.

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The transition from hunting-gathering to agriculture stands as one of the most important dietary revolutions in human history. Yet, due to a scarcity of well-preserved human remains from Pleistocene sites, little is known about the dietary practices of pre-agricultural human groups. Here we present the isotopic evidence of pronounced plant reliance among Late Stone Age hunter-gatherers from North Africa (15,000-13,000 cal BP), predating the advent of agriculture by several millennia.

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Congenital cytomegalovirus (cCMV) infection carries a significant burden with a 0.64% global prevalence and a 17-20% chance of serious long-term effects in children. Since the last guidelines, our understanding, particularly regarding primary maternal infections, has improved.

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Article Synopsis
  • A study was conducted to compare perinatal outcomes between immediate and deferred selective termination of discordant twin pregnancies with anomalies, considering the risk of pregnancy loss.
  • The results showed that the deferred selective termination group had a 100% survival rate for the healthy co-twin, while the immediate group had a 93.8% survival rate (P<.01).
  • Additionally, the rate of preterm birth was significantly lower in the deferred group (20.2%) compared to the immediate group (66.7%), indicating more favorable outcomes with delayed procedures.*
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Severe ventriculomegaly is a rare congenital brain defect, usually detected in utero, of poor neurodevelopmental prognosis. This ventricular enlargement can be the consequence of different mechanisms: either by a disruption of the cerebrospinal fluid circulation or abnormalities of its production/absorption. The aqueduct stenosis is one of the most frequent causes of obstructive ventriculomegaly, however, fewer than 10 genes have been linked to this condition and molecular bases remain often unknown.

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The spread of Homo sapiens into new habitats across Eurasia ~45,000 years ago and the concurrent disappearance of Neanderthals represents a critical evolutionary turnover in our species' history. 'Transitional' technocomplexes, such as the Lincombian-Ranisian-Jerzmanowician (LRJ), characterize the European record during this period but their makers and evolutionary significance have long remained unclear. New evidence from Ilsenhöhle in Ranis, Germany, now provides a secure connection of the LRJ to H.

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Neu Laxova syndrome (NLS) is a rare and lethal congenital disorder characterized by severe intra-uterine growth retardation (IUGR), ichthyosis, abnormal facial features, limb abnormalities with arthrogryposis and a wide spectrum of severe malformations of the central nervous system (CNS). NLS is due to biallelic variants in three genes previously involved in serine-deficiency disorders (PHGDH, PSAT1 and PSPH), extending the phenotypic spectrum of these disorders.

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  • Secure environmental contexts are key for understanding hominin behaviors and habitats, with the Tam Ngu Hao 2 (Cobra) Cave providing important insights into Denisovan life around 164-131 ka.
  • The analysis reveals that while Denisovans were adapted to various landscapes, including forests and open areas, individuals from Cobra Cave primarily consumed resources from open forests and savannah despite nearby rainforests.
  • Additionally, as local rainforest expanded around 130 ka, the study raises questions about how Denisovans adapted to these changes, contrasting with early Homo sapiens, who were more capable of exploiting rainforest resources.
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Grange syndrome (GRNG-MIM#135580) is a rare recessive disorder associating variable features including diffuse vascular stenosis, brachysyndactyly, osteopenia with increased bone fragility, cardiac malformations, and variable developmental delay. Since its first description in 1998, only 15 individuals from 10 families have been reported, carrying homozygous or compound heterozygous frameshift or nonsense variants in YY1AP1. In a patient with cutaneous and bone syndactyly and a hemorrhagic stroke at the age of 16 months, consistent with a clinical diagnosis of GRNG, we performed exome sequencing after negative array-CGH and congenital limb malformation panel results.

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  • CREBBP mutations can cause multiple syndromes, including Rubinstein-Taybi syndrome and a newer condition called Menke-Hennekam syndrome, linked to specific missense mutations.
  • A case study involved a fetus with observable abnormalities, where whole exome sequencing identified a CREBBP mutation known to lead to Menke-Hennekam syndrome.
  • Prenatal diagnosis of this rare syndrome relies on molecular methods like WES since the symptoms are often vague and varied, highlighting the need for genetic testing when unusual signs are detected during pregnancy.
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The timing of the first arrival of Homo sapiens in East Asia from Africa and the degree to which they interbred with or replaced local archaic populations is controversial. Previous discoveries from Tam Pà Ling cave (Laos) identified H. sapiens in Southeast Asia by at least 46 kyr.

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  • A pilot study in France used trio-ES on 150 fetuses with significant ultrasound anomalies, with a focus on influencing pregnancy management, and found a causal diagnosis in 34% of cases within about 28 days.
  • The study demonstrated a high diagnostic yield for trio-ES, comparable to postnatal diagnosis, indicating its potential for routine use in prenatal care when anomalies are detected.
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Nitrogen isotopes are widely used to study the trophic position of animals in modern food webs; however, their application in the fossil record is severely limited by degradation of organic material during fossilization. In this study, we show that the nitrogen isotope composition of organic matter preserved in mammalian tooth enamel (δN) records diet and trophic position. The δN of modern African mammals shows a 3.

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During the Early to Middle Pleistocene, Java was inhabited by hominid taxa of great diversity. However, their seasonal dietary strategies have never been explored. We undertook geochemical analyses of orangutan (Pongo sp.

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Background: Congenital cytomegalovirus (cCMV) infection is frequent and potentially severe. The immunobiology of cCMV infection is poorly understood, involving cytokines that could be carried within or on the surface of extracellular vesicles (EV). We investigated intra-amniotic cytokines, mediated or not by EV, in cCMV infection.

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The characterization of Neandertals' diets has mostly relied on nitrogen isotope analyses of bone and tooth collagen. However, few nitrogen isotope data have been recovered from bones or teeth from Iberia due to poor collagen preservation at Paleolithic sites in the region. Zinc isotopes have been shown to be a reliable method for reconstructing trophic levels in the absence of organic matter preservation.

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SARS-CoV-2-related placentitis shows distinctive histologic characteristics, and its impact on perinatal outcomes is increasingly under scrutiny. We present two such cases in the third trimester displaying mild maternal clinical symptoms and associated with maternal coagulopathy, reduced fetal movements, and nonreassuring fetal heart rate tracing. Both cases resulted in emergency cesarean deliveries.

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Diet is a crucial trait of an animal's lifestyle and ecology. The trophic level of an organism indicates its functional position within an ecosystem and holds significance for its ecology and evolution. Here, we demonstrate the use of zinc isotopes (δZn) to geochemically assess the trophic level in diverse extant and extinct sharks, including the Neogene megatooth shark (Otodus megalodon) and the great white shark (Carcharodon carcharias).

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Objective: To evaluate the effect of gestational age at laser therapy for twin-to-twin transfusion syndrome (TTTS) on perinatal outcome.

Design And Settings: Single retrospective observational cohort.

Population: All consecutive pregnancies affected by TTTS and referred to our department between January 2013 and August 2020.

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