Publications by authors named "Marion Lenoir"

Background: Abdominal radiographs remain useful in newborns. Given the high radiation sensitivity of this population, it is necessary to optimize acquisition techniques to minimize radiation exposure.

Objective: Evaluate the effects of three additional filtrations on radiation dose and image quality in abdominal X-rays of newborns using an anthropomorphic phantom.

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Background: 3D reconstruction of Wilms' tumor provides several advantages but are not systematically performed because manual segmentation is extremely time-consuming. The objective of our study was to develop an artificial intelligence tool to automate the segmentation of tumors and kidneys in children.

Methods: A manual segmentation was carried out by two experts on 14 CT scans.

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Irritable bowel syndrome (IBS) is one of the disorders most frequently diagnosed by gastroenterologists. Probiotics are promising tools for the management of IBS. The objective of the present study was to evaluate the effectiveness and tolerability of a probiotic (Bifidobacterium longum 35624) in adults (aged 18 or over) with IBS (as defined by the Rome IV criteria).

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Background: Pediatric magnetic resonance imaging (MRI) and computed tompgraphy (CT) require patient immobility and therefore often require sedation or general anesthesia of patients. Consensus on these procedures is lacking in France.

Objective: Thus, the aim of this study was to describe the current sedation practices for pediatric MRI and CT in France.

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Article Synopsis
  • Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare neurocutaneous disorder marked by abnormalities in the eye, skin, and central nervous system, particularly featuring scalp fatty tissue nevi and intracranial lipomas.
  • A recent case involved a diagnosis made after pregnancy termination at 35 weeks gestation, with thorough prenatal imaging and a complete post-mortem examination revealing multiple spinal lesions and cerebral anomalies.
  • The findings included unreported cardiac and kidney issues alongside typical signs of ECCL, and diagnosis was supported by identifying a specific genetic mutation related to the syndrome.
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The commensal bacterium plays a key role in inflammatory bowel disease (IBD) pathogenesis and serves as a general health biomarker in humans. However, the host molecular mechanisms that underlie its anti-inflammatory effects remain unknown. In this study we performed a transcriptomic approach on human intestinal epithelial cells (HT-29) stimulated with TNF-α and exposed to culture supernatant (SN) in order to determine the impact of this commensal bacterium on intestinal epithelial cells.

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Introduction: Wilms' tumor (WT) is the most common type of malignant kidney tumor in children. Three-dimensional reconstructions can be performed pre-operatively to help surgeons in the planning phase.

Objectives: The main objective of this study was to determine the variability of WT segmentation and 3D reconstruction.

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A narrow thorax with shortening of long bones is usually pointing to dysfunction of the primary cilia corresponding clinically to ciliopathies with major skeletal involvement. Mutations in at least 23 genes are likely to correspond to this clinical presentation: IFT43/52/80/81/122/140/172, WDR19/34/35/60, DYNC2H1, DYNC2LI1, CEP120, NEK1, TTC21B, TCTEX1D2, INTU, TCTN3, EVC 1/2 and KIAA0586. In addition to these, KIAA0753 variants were recently described in seven patients with Jeune asphyxiating thoracic dystrophy (ATD) (two first cousins, one unrelated patient and one fetus), Joubert syndrome (two siblings) and orofaciodigital syndrome type 6 (one patient).

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Article Synopsis
  • - The cutis laxa syndromes are a group of disorders characterized by loose, wrinkled skin and involve various genetic mutations related to elastic fiber formation.
  • - This report focuses on three patients with a specific rare disorder known as Lenz-Majewski syndrome (LMS), marked by unique symptoms like facial dysmorphism, severe growth retardation, and intellectual disability, linked to mutations in the PTDSS1 gene.
  • - The study highlights LMS as a clear example of a cutis laxa syndrome and notes distinctive early signs such as brachydactyly, emphasizing the need for further research on the connection between the PTDSS1 gene and the body's extracellular matrix structure.
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Background: Chronic intestinal inflammation alters host physiology and could lead to colorectal cancer (CRC). We have previously reported beneficial effects of the probiotic strain of Lactobacillus casei BL23 in different murine models of intestinal inflammation. In addition, there is an emerging interest on the potential beneficial effects of probiotics to treat CRC.

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Background: Image-guided percutaneous core needle biopsy is a common procedure for diagnosis of both solid tumors and hematological malignancies in children. Despite recent improvements, a certain rate of non-diagnostic biopsies persists.

Objective: To assess the factors influencing the diagnostic yield and accuracy of percutaneous core needle biopsies of pediatric tumors.

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Probiotics are live microorganisms which when administered in adequate amounts, confer health benefits on the host. Their use is more and more widespread for both prevention and treatment of diseases, including traveler’s diarrhea and inflammatory bowel diseases (IBDs). In this work, we isolated and characterized novel candidate probiotic strains from pulque (xaxtle), a traditional Mexican alcoholic fermented beverage.

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Unlabelled: Faecalibacterium prausnitzii is an anti-inflammatory commensal bacterium identified on the basis of human clinical data. The mechanisms underlying its beneficial effects are still unknown. Gnotobiotic mice harboring F.

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Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first case of TCF12 microdeletion, detected by array-comparative genomic hybridization, in a 72-year-old patient presenting with intellectual deficiency and dysmorphism.

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A 7-year-old girl was admitted with a severe abdominal pain. Abdominal ultrasound and CT revealed a large splenic infarction, leading to the diagnosis of chronic myeloid leukemia.

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Heterozygous mutations of TCF2 (transcription factor 2) have been associated with maturity onset diabetes of the young, renal malformations, hyperuricemia, and occasionally internal genital malformations in female. We report a female patient with bilateral renal hypodysplasia and de novo heterozygous TCF2 gene mutation. At the age of 9 yr, she developed transient ketoacidosis immediately posttransplant, temporarily requiring insulin.

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We illustrate the contribution of high-frequency linear abdominal transducers in the prenatal US examination of the spinal cord. After birth, such transducers are commonly used in US examination of the spinal cord. During the third trimester of gestation, the fetal spine is commonly facing anteriorly and US images of the spinal cord can be acquired using a high-frequency linear abdominal transducer.

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Background: This retrospective, single-center study was designed to assess our management strategy based on blebs detection on the initial CT scan.

Methods: Children younger than aged 18 years presenting with a primary spontaneous pneumothorax (PSP) between 2000 and 2007 in a University Children's Hospital (hospital Armand Trousseau, Paris, France) were included in this study.

Results: Twenty-five children who presented with PSP were included.

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Microcephaly results from inadequate brain growth during development. It may develop in utero, and therefore be present at birth, or may develop later as a result of perinatal events or postnatal conditions. The aetiology of microcephaly may be congenital (secondary to cerebral malformations or metabolic abnormalities) or acquired, most frequently following an ischaemic insult.

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Intracranial lipomas are rare lesions. Intracranial lipoma associated with a subcutaneous lipoma is extremely rare. Various abnormalities have been described in association with intracranial lipoma, mainly vascular in nature.

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Objectives: To evaluate the frequency of ovarian torsion in neonates with ovarian cysts (OCs) and to analyze the outcome after surgical treatment.

Methods: A retrospective review of all infants with OCs managed in our institution during 20 years, was conducted. Our management included a follow-up (FU) of prenatal serial ultrasound (US) scan without prenatal cyst aspiration and early postnatal US scan.

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