Publications by authors named "Catherine Yardin"

Pressurized intraperitoneal aerosol chemotherapy (PIPAC) is a valuable therapeutic alternative for patients with peritoneal metastases. PIPAC uses a hyaluronic acid-based gel to reduce surgically induced adhesions. The aim of this study was to evaluate the effects of the hyaluronic acid-based gel on tumor dissemination.

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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 study compares the endothelial coverage of new coated and uncoated flow diverters (FDs) in rabbits, focusing on the effects of different antiplatelet therapies.
  • Three types of FDs were implanted in rabbits, and their integration into the arterial wall was assessed after four weeks using various imaging and histopathological techniques.
  • Results show that the integration of coated and uncoated FDs is similar, while the antiplatelet regimen influenced the rates of coverage, with no therapy showing the highest rate of neointimal formation.
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Background: WEB Shape Modification (WSM) over time is frequent after aneurysm treatment. In this study, we explored the relationship between histopathological changes and angiographic evolution over time in experimental aneurysms in rabbits treated with the Woven EndoBridge (WEB) procedure.

Methods: Quantitative WSM was assessed using flat-panel computed tomography (FPCT) during follow-up by calculating height and width ratio (HR, WR), defined as the ratio between either measurement at an index time point and the measurement immediately after WEB implantation.

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  • The study explores the genetic predisposition to myeloid malignancies, highlighting a growing area of intersection between hematology and genetics, which has led the WHO to categorize certain tumors as "Myeloid Neoplasms with Germline Predisposition."
  • Researchers compared next-generation sequencing (NGS) data across multiple sample types from 29 patients and their 44 relatives, assessing the effectiveness of saliva as a diagnostic tool.
  • The findings revealed that while saliva could be useful for relatives, it was only effective for a minority of patients, prompting recommendations to collect saliva during remission and suggesting hair follicles as an alternative biopsy method.
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Background: The histological responses (HRs) after systemic chemotherapy should be used to determine the optimal management of patients with peritoneal and liver metastasis from colorectal cancer (cPM, cLM), in curative intent. We aimed to compare HRs of cPM and cLM in metastatic mice model after chemotherapy.

Methods: Colon carcinoma CT26-luc cells were transplanted into syngeneic BALB/c mice by intraperitoneal (leading to cPM), intrasplenic (leading to cLM), or intraperitoneal + intrasplenic (leading to cPM cLM) injections and follow up using bioluminescence during 21 days.

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  • Chromosome 1p36 deletion syndrome (1p36DS) is a common genetic disorder resulting from a deletion on the short arm of chromosome 1, affecting 1 in every 5,000 to 10,000 live births in the U.S.
  • The syndrome is characterized by a range of health issues including developmental delays, heart defects, and distinct facial features.
  • This study analyzed 86 patients in France to compare the incidence of 1p36DS with other syndromes and examined how deletion locations influence specific symptoms and overall management of the disorder.
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  • Increased fetal nuchal translucency (NT) is linked to a higher incidence of chromosomal and morphological issues, prompting a study on the outcomes and development of affected children.
  • In a study involving 398 patients, it was found that 37.4% of fetuses had chromosomal abnormalities, and 28.7% without such abnormalities showed significant morphological issues, especially cardiac defects.
  • The results indicate that fetuses with NT ≥ 3.5 mm are at increased risk for growth issues and cesarean deliveries, and children from these pregnancies should receive ongoing specialized development assessments.
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AB variant is the rarest form of GM2 gangliosidosis, neurodegenerative diseases caused by lysosomal accumulation of GM2 gangliosides. Less than thirty cases are referenced in the literature, and to date, no late-onset form has been described. Our proband is a 22-year-old male with spinocerebellar ataxia and lower limbs motor deficiency.

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Background: Urine protein assessment is important when glomerular disease or injury is suspected. Normal values of proteinuria already published for preterm newborns suffer from limitation, with small cohorts of patients. This prospective study was conducted to update the urine total protein- and albumin-to-creatinine ratio values.

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Objective: To test the hypothesis that telomere shortening and/or loss are risk factors for infertility.

Design: Retrospective analysis of the telomere status in patients with infertility using conventional cytogenetic data collected prospectively.

Setting: Academic centers.

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  • A study screened 80 fetuses with congenital heart defects (CHDs) or heterotaxy, revealing a 12.5% pathogenic variant rate, especially higher in those with heterotaxy.
  • Most fetuses were male, and a significant portion had additional anomalies beyond heart defects.
  • The study found that genetic counseling for future pregnancies is more effective with these results, highlighting unexpected consanguinity in 20% of cases with identified variants.
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Dicentric chromosomes are a relevant marker of chromosomal instability. Their appearance is associated with telomere dysfunction, leading to cancer progression and a poor clinical outcome. Here, we present Telomere and Centromere staining followed by M-FISH (TC+M-FISH) for improved detection of telomere dysfunction and the identification of dicentric chromosomes in cancer patients and various genetic syndromes.

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Background And Purpose: In this study we tested the effect of antiangiogenics on a swine angiogenesis model that shares some brain AVM histological characteristics. The objective was to determine bevacizumab effects on retia volumes and on vessels' wall.

Materials And Methods: Fifteen pigs were divided into 3 groups: Five animals served as controls (group A), 5 animals underwent endovascular left external and common carotid artery occlusion (group B) and 5 animals underwent the same procedure and had an intra-arterial in-situ injection of bevacizumab (groupC) 2 months after the occlusion.

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Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but high variable expressivity. NF1 is caused by loss-of-function mutations in the gene, a negative regulator of the RAS-MAPK pathway. The gene has one of the highest mutation rates in human disorders, which may explain the outbreak of independent de novo variants in the same family.

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The development of cancer mouse models is still needed for the identification and preclinical validation of novel therapeutic targets in colorectal cancer, which is the third leading cause of cancer-related deaths in Europe. The purpose of this study was to determine the most accurate tumour cell injection method to obtain suitable peritoneal metastasis (PM) for subsequent therapeutic treatments. Here, we grafted murine colon carcinoma CT-26 cells expressing luciferase into immunocompetent BALB-c mice by intravenous injection (IV group), subcutaneous injection (SC group), intraperitoneal injection after peritoneal scratching (A group) or intraperitoneal injection alone (IP group).

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  • * Analysis of data from over 16,000 patients reveals key clinical features, such as speech delays, learning disabilities, and a noted increase in cardiovascular disease risk, with most duplications inherited from parents.
  • * The research suggests that 16p13.11 microduplications are likely harmful in the context of neurocognitive disorders, indicating that further cardiac evaluations are necessary and highlighting the significance of specific genetic factors like miR-484.
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Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36 microduplications have rarely been reported. We describe a three years old boy presenting with a severe global developmental delay and a few dysmorphic features. Cytogenetic analyses revealed a maternally inherited 3.

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Objective: To assess how the uterus tolerates extended cold ischemic storage before auto-transplantation in ewes.

Study Design: Fourteen uterine auto-transplantations were performed in ewes from November 2014 to June 2015 at the Analysis and Research Laboratory of Limoges, France. The animals were divided into 2 groups: 7 after 3h of cold ischemia timeand 7 after 24h.

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Background: Even though flow-diverting stents are being increasingly used to treat intracranial aneurysms, the fate of jailed side branches remains controversial, with recent clinical data contradicting finding of earlier animal studies that reported patency.

Objective: To quantify the surface area of the ostia after 3 months of jailing by flow-diverting stents as a more accurate means of patency evaluation.

Methods: Ten large white swine were stented by flow-diverting stents placed at common carotid-ascending pharyngeal arterial bifurcation sites.

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Background: It is important to have an accurate assessment of urinary protein when glomerulopathy or kidney injury is suspected. Currently available normal values for the neonate population have limited value, in part because they are based on small populations and obsolete creatinine assays. We have performed a prospective study with the aim to update the normal upper values of the urinary total protein-to-creatinine and albumin-to-creatinine ratios in term newborns.

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OBJECTIVE The outcome for jailing arterial branches that emerge near intracranial aneurysms during flow-diverting stent (FDS) deployment remains controversial. In this animal study, the authors aimed to elucidate the role of collateral supply with regard to the hemodynamic changes and neointimal modifications that occur from jailing arteries with FDSs. To serve this purpose, the authors sought to quantify 1) the hemodynamic changes that occur at the jailed arterial branches immediately after stent placement and 2) the ostia surface values at 3 months after stenting; both parameters were investigated in the presence or absence of collateral arterial flow.

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  • The study focuses on the unexpected prenatal diagnosis of sex chromosome aneuploidies (47, XXX and 47, XYY) in a French cohort to assess termination rates before and after multidisciplinary centers were established in 1997.
  • It found that most cases were diagnosed fortuitously, and maternal age was typically higher for 47, XXX cases, which had a slightly higher termination rate (22.9%) compared to 47, XYY (14.6%).
  • After 1997, significant decreases in termination rates were observed for both conditions, suggesting a positive impact of the new prenatal diagnostic centers.
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Background: Angiogenesis has a key role in the formation and evolution of brain arteriovenous malformations (AVMs). Numerous models have been developed aiming to recreate configuration of brain AVMs.

Objective: To develop an animal model sharing the same pathological characteristics as human brain AVMs.

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Background And Objective: Due to its high spatial resolution, intravascular optical coherence tomography (OCT) has been used as a valid method for in vivo evaluation of several types of coronary stents at straight lumen and bifurcation sites. We sought to evaluate its effectiveness for flow diverting stents deployed in arterial bifurcation sites involving jailing of a side branch.

Methods: Four large white swine were stented with flow diverting stents covering the right common carotid artery-ascending pharyngeal artery bifurcation.

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