Publications by authors named "Carli E"

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

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Introduction: H3K27-altered diffuse midline gliomas (DMG) have limited therapeutic options and a very poor prognosis. Encouraging responses were observed in early clinical trials with ONC201. As ONC201 was unavailable in Europe, a compassionate use program supported by the French Authorities was launched for patients at progression after standard of care radiotherapy.

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Aim: This study assessed the effectiveness of technological aids (video modelling) versus verbal and demonstrative motivation for improving oral hygiene in paediatric patients with autism spectrum disorder (ASD).

Materials: Consecutive patients with ASD were enrolled. Data on brushing frequency, snack intake frequency, plaque index, gum index, and Frankl scale were collected at baseline.

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Article Synopsis
  • - The study investigates dental issues in patients with X-linked hypophosphatemic rickets (XLH), focusing on abscess occurrence and the characteristics of pulp chambers.
  • - Researchers analyzed 24 XLH patients and 23 healthy controls, using imaging and histological techniques to compare pulp chamber features and dental health.
  • - Results showed that most XLH patients have enlarged and altered pulp chambers, increasing their risk for abscesses, highlighting the need for early, multidisciplinary dental care for these patients.
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SACHA-France (NCT04477681) is a prospective real-world study that collects clinical safety and efficacy data of novel anticancer therapies prescribed off-label or on compassionate use to patients <25 years. From March 2020 until February 2024, 640 patients with solid tumors or lymphomas were included, with 176 (28%) reported objective tumor responses. Centralized medical monitoring of local radiological/functional imaging reports by the SACHA coordinating investigator led to response modification in 45 out of 176 cases (26%), highlighting the relevance of the medical review of study data.

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This study aimed to assess hemoglobin concentration and its association with oral contraceptive (OC) use, food insecurity (FI) and dietary iron availability (DIA) in adult women of reproductive age (20-44 years). This is a population-based cross-sectional study that analysed 505 women living in favelas and urban communities in a capital city in northeastern Brazil. Hemoglobin concentration was determined using capillary blood samples.

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  • * The study involved 35 healthy dogs and 37 dogs with leishmaniosis, measuring urinary podocin and nephrin levels using a reliable test and comparing results across different stages of kidney disease according to the International Renal Interest Society guidelines.
  • * Results showed that dogs with leishmaniosis had lower urinary podocin and nephrin levels than healthy dogs, suggesting that as kidney disease progresses (especially in IRIS stages II-IV), these markers decrease, highlighting the importance of monitoring these urinary concentrations
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The microbial ecology of raw milk cheeses is determined by bacteria originating from milk and milk-producing animals. Recently, it has been shown that members of the species may become transmitted along the Parmigiano Reggiano cheese production chain and ultimately may colonize the consumer intestine. However, there is a lack of knowledge regarding the molecular mechanisms that mediate the interaction between and the human gut.

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Introduction: Food intake biomarkers are used to estimate dietary exposure; however, selecting a single biomarker to evaluate a specific dietary component is difficult due to the overlap of diverse compounds from different foods. Therefore, combining two or more biomarkers can increase the sensitivity and specificity of food intake estimates.

Objective: This study aimed to evaluate the ability of metabolite panels to distinguish between self-reported fruit consumers and non-consumers among participants in the Longitudinal Study of Adult Health.

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Background: pathogenic variants (PV) have been recently identified as the most frequent variants predisposing to Sonic Hedgehog (SHH) medulloblastomas (MB); however, guidelines are still lacking for genetic counseling in this new syndrome.

Methods: We retrospectively reviewed clinical and genetic data of a French series of 29 -mutated MB.

Results: All patients developed SHH-MB, with a biallelic inactivation of found in 24 tumors.

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Excess sugar is considered one of the primary factors contributing to overweight status. In Brazil, sugar-sweetened beverages (SSBs) contain a significant amount of this nutrient and are consumed excessively. These beverages are associated with adverse health outcomes and impose costs on the healthcare system.

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Muscular temporomandibular joint disorders (M-TMDs) encompass a wide range of painful muscular conditions, which can provoke functional limitation and severely affect quality of life. The aim of the present study was to assess the treatment outcomes in patients affected by M-TMDs in terms of pain scores assessed with pressure pain threshold (PPT). The levels of depression, anxiety, and the Oral Health Impact Profile were also assessed and compared to healthy controls.

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Objectives: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disorder characterized by dryness of mucous membranes, predominantly the eyes and mouth, following glandular tissue substitution. The onset of oral dryness constitutes a significant source of discomfort that negatively affects overall quality of life. This systematic review aimed at investigating the differences in Oral Health Impact Profile-14 (OHIP-14) questionnaire scores in patients diagnosed with Sjögren's syndrome compared to sicca syndrome, to assess the influence of the two conditions on oral health.

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The bacterial genus Hafnia has recently attracted attention due to its complex metabolic features and host-interaction capabilities, which are associated with health benefits, primarily weight loss. However, significant gaps remain in our understanding of the genomic characteristics of this emerging microbial group. In this study, we utilized all available high-quality genomes of Hafnia alvei and Hafnia paralvei to uncover the broad distribution of Hafnia in human and honeybee guts, as well as in dairy products, by analysing 1068 metagenomic datasets.

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Aim: Periapical cysts of primary teeth are pathologic entities which are seldom encountered in the clinical practice. Most frequently, these lesions arise in correspondence with primary teeth presenting previous pulp therapy, severe carious lesions, or a history of previous trauma. The aim of the present study is to systematically review the treatment modalities of periapical cysts of the deciduous, along with the reporting of a clinical case.

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Background: Cerebellar mutism syndrome (CMS) occurs in 8-29 % of children undergoing posterior fossa tumor surgery. Its main symptoms are mutism and emotional lability. Although it is always transient, recovery time can be lengthy with long-term cognitive sequelae.

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Background: Optic pathway gliomas (OPGs) represent 5% of childhood brain tumors. Successive relapses lead to multiple treatments exposing to late complications.

Methods: We included patients treated at Gustave Roussy (GR) between January 1980 and December 2015 for OPG, before 18 years old and alive at 5 years from diagnosis.

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Introduction: Despite poor survival for patients with relapsed or refractory neuroblastoma, only 10-16% of patients are reported to be included in early phase trials. This study aimed to explore the impact of molecular profiling within the prospective precision cancer medicine trial MAPPYACTS (NCT02613962) on subsequent early phase trial recruitment and treatment by matched targeted therapies in this population.

Methods And Materials: Clinical data from all French patients with relapsed/refractory neuroblastoma enrolled in MAPPYACTS were analyzed for subsequent matched/non-matched targeted treatment based on clinical tumor board (CMTB) recommendations.

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This study aimed to investigate the relation of adherence to the planetary diet with food and nutrition security status and per capita household income in a study with a representative sample of the Brazilian population. Among the data from the 2017-2018 Brazilian Household Budgets Survey (POF), the inequality indicators selected for the analysis were data on per capita household income and food and nutrition security. We also considered data on the individual food consumption of 46,164 Brazilians aged ≥ 10 years, obtained through 24-hour dietary recalls, in the National Food Survey, conducted with the POF 2017-2018.

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Purpose: AcSé-ESMART Arm C aimed to define the recommended dose and activity of the WEE1 inhibitor adavosertib in combination with carboplatin in children and young adults with molecularly enriched recurrent/refractory malignancies.

Patients And Methods: Adavosertib was administered orally, twice every day on Days 1 to 3 and carboplatin intravenously on Day 1 of a 21-day cycle, starting at 100 mg/m2/dose and AUC 5, respectively. Patients were enriched for molecular alterations in cell cycle and/or homologous recombination (HR).

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: The use of biomaterials in dentistry is extremely common. From a commercial perspective, different types of osteoconductive and osteoinductive biomaterials are available to clinicians. In the field of osteoconductive materials, clinicians have biomaterials made of heterologous bones at their disposal, including biomaterials of bovine, porcine, and equine origins, and biomaterials of natural origin, such as corals and hydroxyapatites.

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Introduction: Infant-type hemispheric gliomas belong to pediatric-type diffuse high-grade gliomas according to the 2021 WHO classification of central nervous system tumors. They are characterized by tyrosine kinase gene rearrangements (NTRK1/2/3, ALK, ROS1, MET). The aim of the study was to describe the clinical, histopathologic, and molecular characteristics of such tumors, and to provide a review of the literature.

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Thanks to the great development of digital technology, viaCAD (computer-aided design) and CAM (computer-aided manufacturing) systems, digital models canbe used as an aid for orthodontic planning decision-making processes as there are numerous studies in the literature that support the validity ofthe digital model measurements of anterior teeth and the total coefficient of Bolton analysis. The aim of the present study isto compare the average length value of the current upper and lower arches with that of a hypothetical nickel-titanium wire and to confirm the reliability and accuracy of digitally taken measurements of the anterior and total Bolton coefficients.In this retrospective study, dental casts of 138 Caucasian adolescent patients were scanned with an extraoral scanner, and Ortho3Shape software was adopted for the following dental cast measurements: actual and ideal lengths of the lower arches and anterior and total Bolton coefficients.

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Importance: Innovative anticancer therapies for children, adolescents, and young adults are regularly prescribed outside their marketing authorization or through compassionate use programs. However, no clinical data of these prescriptions is systematically collected.

Objectives: To measure the feasibility of the collection of clinical safety and efficacy data of compassionate and off-label innovative anticancer therapies, with adequate pharmacovigilance declaration to inform further use and development of these medicines.

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Article Synopsis
  • Bird populations in Europe have been declining for years, and this study looks at how human activities are affecting them.
  • The researchers examined data from 170 bird species over 37 years across 28 countries to see how farming, forest changes, city growth, and temperature changes impact these birds.
  • They found that farming, especially using pesticides and fertilizers, hurts most bird populations the most, while changes in forests and cities affect different species in various ways.
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