Publications by authors named "Parfait B"

Article Synopsis
  • A study was conducted during the COVID-19 pandemic in France to evaluate the effectiveness of various biomarkers in predicting short-term worsening (STW) of the disease in hospitalized patients.
  • The research involved analyzing data from 511 consecutive COVID-19 patients across 20 hospitals, identifying key blood test markers that could help in severity triage.
  • The results showed that out of the patients analyzed, 11.7% experienced STW, with certain biomarker levels at admission indicating a higher risk of rapid deterioration within seven days.
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  • * Using a cohort of over 3,600 participants, researchers measured levels of specific antibodies and assessed SARS-CoV-2 infection outcomes over the next six months.
  • * Results showed that higher anti-Spike IgG antibody levels correlated with reduced infection risk in the control group, but this was not the case for individuals in specific patient populations.
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  • * Out of 207 fetuses, 41% were diagnosed with the NF1 variant, leading to 135 pregnancies carried to term, including 16 affected children, while 69 pregnancies were terminated due to NF1.
  • * Our findings highlight the complexities of PND, especially in cases of mosaic NF1, where indirect testing can lead to unexpected results, emphasizing the need for careful medical and genetic counseling.
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Coordinating immune responses - humoral and cellular - is vital for protection against severe Covid-19. Our study evaluates a multicytokine CD4T cell signature's predictive for post-vaccinal serological and CD8T cell responses. A cytokine signature composed of four cytokines (IL-2, TNF-α, IP10, IL-9) excluding IFN-γ, and generated through machine learning, effectively predicted the CD8T cell response following mRNA-1273 or BNT162b2 vaccine administration.

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  • Congenital pseudarthrosis of the tibia (CPT) is characterized by non-healing bone fractures, often linked to neurofibromatosis type 1 (NF1), a genetic disorder caused by mutations in a tumor suppressor gene.
  • Research focused on the role of specific cell types, including Schwann cells and skeletal stem/progenitor cells (SSPCs), in the development of fibrosis associated with CPT.
  • Treatment using inhibitors targeting the RAS-MAPK signaling pathway showed promise in preventing fibrous nonunion in a mouse model, suggesting a new potential strategy for dealing with CPT-related complications.
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Importance: There is still considerable controversy in the literature regarding the capacity of intramuscular messenger RNA (mRNA) vaccination to induce a mucosal immune response.

Objective: To compare serum and salivary IgG and IgA levels among mRNA-vaccinated individuals with or without previous SARS-CoV-2 infection.

Design, Setting, And Participants: In this cohort study, SARS-CoV-2-naive participants and those with previous infection were consecutively included in the CoviCompare P and CoviCompare M mRNA vaccination trials and followed up to day 180 after vaccination with either the BNT162b2 (Pfizer-BioNTech) vaccine or the mRNA-1273 (Moderna) vaccine at the beginning of the COVID-19 vaccination campaign (from February 19 to June 8, 2021) in France.

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Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders caused by heterozygous germline mutations. NF1 affects many systems, including the skeletal system. To date, no curative therapies are available for skeletal manifestations such as scoliosis and tibial dysplasia, mainly due to the lack of knowledge about the mechanisms that underlie this process.

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Introduction: The complement system is involved in numerous diseases, through diverse mechanisms and degree of activation. With the emergence of complement targeting therapeutic, simple and accessible tools to evaluate the extent of complement activation are strongly needed.

Methods: We evaluated two multiplex panels, measuring complement activation fragments (C4a, C3a, C5a, Bb, Ba, sC5b9) and intact components or regulators (C1q, C2, C3, C4, C5, FD, FP, FH, FI).

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Neurofibromatosis type-1 is a genetic disorder caused by loss-of-function variants in the tumor-suppressor NF1. Approximately 4% to 11% of neurofibromatosis type-1 patients have a NF1 locus complete deletion resulting from nonallelic homologous recombination between low copy repeats. Codeleted genes probably account for the more severe phenotype observed in NF1-deleted patients.

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Depression presents a significant global health burden, necessitating the search for effective and safe treatments. This investigation aims to assess the antidepressant effect of the hydroethanolic extract of (AO) on depression-related behaviors in rats. The depression model involved 42 days of unpredictable chronic mild stress (UCMS) exposure and was assessed using the sucrose preference and the forced swimming (FST) test.

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  • Neurofibromatosis type 1 (NF1) is marked by the unpredictable growth of benign tumors on peripheral nerves, including different types known as cutaneous, subcutaneous, and plexiform neurofibromas.
  • The study aimed to identify modifier genes for neurofibromas by analyzing a large group of 1333 NF1 patients through genetic and phenotypic evaluations.
  • Significant associations were found with specific genetic locations related to plexiform neurofibromas, revealing candidate genes that influence tumor growth, which may lead to better personalized treatment options for NF1 patients in the future.
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Although anti-severe acute respiratory syndrome-coronavirus 2 antibody kinetics have been described in large populations of vaccinated individuals, we still poorly understand how they evolve during a natural infection and how this impacts viral clearance. For that purpose, we analyzed the kinetics of both viral load and neutralizing antibody levels in a prospective cohort of individuals during acute infection with alpha variant. Using a mathematical model, we show that the progressive increase in neutralizing antibodies leads to a shortening of the half-life of both infected cells and infectious viral particles.

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Background: Neurofibromatosis type 2 (NF2) is rare genetic disorder mainly characterized by the development of central nervous system lesions, but peripheral nerve pathology may also cause high morbidity including pain, motor, and sensory loss.

Objective: To describe the tumor burden of patients with peripheral nerve pathology in NF2 including peripheral neuropathies and schwannomas and the results of surgery in the latter group.

Methods: We conducted a retrospective chart review of all patients with NF2 followed up at our NF2 Reference Center to include all patients suffering from peripheral nerve pathology.

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Immune response induced by COVID-19 vaccine booster against delta and omicron variants was assessed in 65 adults (65-84 years old) early aftesr a first booster dose. An increase in SARS-CoV-2 neutralizing antibodies was shown in individuals not previously infected without evidence of an age-related effect, with lower increase in those infected before a single dose of primary vaccination. Of note, humoral response was observed only starting from the 5th day after the boost.

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  • Modeling pre-mRNA splicing is crucial for understanding how nucleotide variations can affect gene expression and lead to diseases, as these variations can disrupt or create important splicing motifs.
  • Existing tools typically specialize in specific splicing motifs, which led to the development of the Splicing Prediction Pipeline (SPiP), a machine learning-based analysis that assesses the impact of variants on various splicing motifs simultaneously.
  • SPiP achieved impressive results with 83.13% sensitivity and 99% specificity in detecting spliceogenic variants, outperforming other existing tools and providing a comprehensive prediction approach for genomic medicine.
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Objectives: We aimed to investigate the 1-month humoral response to two or three doses of a messenger RNA coronavirus disease 2019 (COVID-19) vaccine as a primary vaccination regimen in specific populations compared with that in healthy adults.

Methods: Agence Nationale Recherche contre le Sida (ANRS)0001S-COV-POPART (NCT04824651) is a French nation-wide, multi-centre, prospective, observational cohort study assessing the immune response to COVID-19 vaccines routinely administered to 11 sub-groups of patients with chronic conditions and two control groups. Patients and controls who received at least two vaccine doses and whose results 1 month after the second dose were available were included.

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Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with complete penetrance but highly variable expressivity. In most patients, Next Generation Sequencing (NGS) technologies allow the identification of a loss-of-function pathogenic variant in the NF1 gene, a negative regulator of the RAS-MAPK pathway. We describe the 5-year diagnosis wandering of a patient with a clear NF1 clinical diagnosis, but no molecular diagnosis using standard molecular technologies.

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Background: No circulating biomarker is available for endometrial carcinoma (EC). We aimed to identify DNA positions universally hypermethylated in EC, and to develop a digital droplet PCR (ddPCR) assay for detection of hypermethylated circulating tumor DNA (meth-ctDNA) in plasma from patients with EC.

Methods: DNA positions hypermethylated in EC, and without unspecific hypermethylation in tissue/cell types releasing circulating cell-free DNA in plasma, were identified in silico from TCGA/Gene Expression Omnibus (GEO) data.

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Background: Mast cells are key players in innate immunity and the T2 adaptive immune response. The latter counterbalances the T1 response, which is critical for antiviral immunity. Clonal mast cell activation disorders (cMCADs, such as mastocytosis and clonal mast cell activation syndrome) are characterized by abnormal mast cell accumulation and/or activation.

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Rapid identification of SARS-CoV-2-infected individuals is a cornerstone for the control of virus spread. The sensitivity of SARS-CoV-2 RNA detection by RT-PCR is similar in saliva and nasopharyngeal swabs. Rapid molecular point-of-care tests in saliva could facilitate, broaden and speed up the diagnosis.

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Article Synopsis
  • A recent study focused on predicting non-alcoholic liver disease in patients with type 2 diabetes using non-invasive blood tests for fibrosis, NASH, and steatosis.
  • The investigation involved 272 patients and assessed the performance of a new testing panel called Nash-FibroTest, which uses an Obuchowski measure for accuracy rather than traditional methods.
  • Results showed that the panel effectively diagnosed stages of fibrosis and grades of NASH and steatosis from a single blood sample, outperforming traditional assessment methods in some aspects.
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Nasopharyngeal sampling for nucleic acid amplification testing (NAAT) is the standard diagnostic test of coronavirus disease 2019. Our objectives were to assess, in real-life conditions, the diagnostic accuracy of a nasopharyngeal point-of-care antigen (Ag) test and of saliva NAAT for detection of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) in ambulatory care. This was a prospective cohort study from 19 October through 18 December 2020 in two community COVID-19 screening centers in Paris, France.

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