Whole exome sequencing in 18 Brazilian families with vertical transmission of non-syndromic oral clefts.

This study describes the results of whole exome sequencing in the etiological investigation and genetic counseling of families presenting with non-syndromic oral clefts with vertical transmission recorded in the Brazilian Database on Craniofacial Anomalies. Whole exome sequencing was performed in 18 families presenting with non-syndromic oral clefts with vertical transmission, and variant filtering was used to identify rare, and also possibly pathogenic variants in genes associated with oral clefts. Overall, our study identified seven families (38.

Automated adjustment of metabolic niches enables the control of natural and engineered microbial co-cultures.

Much attention has focused on understanding microbial interactions leading to stable co-cultures. In this work, substrate pulsing was performed to promote better control of the metabolic niches (MNs) corresponding to each species, leading to the continuous co-cultivation of diverse microbial organisms. We used a cell-machine interface, which allows adjustment of the temporal profile of two MNs according to a rhythm, ensuring the successive growth of two species, in our case, a yeast and a bacterium.

Patient-reported outcomes in sarcopenia: An ICFSR task force report.

The International Conference on Frailty and Sarcopenia Research (ICFSR) Task Force convened in March 2024 to address patient-reported outcomes measures (PROMs) in the field of sarcopenia. PROMs are crucial to enhance healthcare services at both individual and societal levels. PROMs complement objective outcome measures by capturing insights that patients are best suited to judge.

International benchmarking of stage at diagnosis for six childhood solid tumours (the BENCHISTA project): a population-based, retrospective cohort study.

Background: International variation in childhood cancer survival might be explained by differences in stage at diagnosis, among other factors. As part of the BENCHISTA project, we aimed to assess geographical variation in tumour stage at diagnosis through the application, by population-based cancer registries working with clinicians, of the international consensus Toronto Childhood Cancer Stage Guidelines.

Methods: This population-based, retrospective cohort study involved 67 cancer registries from 23 European countries, Australia, Brazil, Japan, and Canada.

Characteristics of children and adolescents with multidrug-resistant and rifampicin-resistant tuberculosis and their association with treatment outcomes: a systematic review and individual participant data meta-analysis.

Background: There are few data on the treatment of children and adolescents with multidrug-resistant (MDR) or rifampicin-resistant (RR) tuberculosis, especially with more recently available drugs and regimens. We aimed to describe the clinical and treatment characteristics and their associations with treatment outcomes in this susceptible population.

Methods: We conducted a systematic review and individual participant data meta-analysis.

Clinical outcomes of patients with unsuccessful mechanical thrombectomy versus best medical management of medium vessel occlusion stroke in the middle cerebral artery territory.

Background: Current randomized controlled trials are investigating the efficacy and safety of mechanical thrombectomy (MT) in patients with medium vessel occlusion (MeVO) stroke. Whether best medical management (MM) is more efficient than unsuccessful vessel recanalization during MT remains unknown.

Methods: This was a retrospective cohort study using data from 37 academic centers across North America, Asia, and Europe between September 2017 and July 2021.

Use of alternatives to animal testing for Environmental Safety Assessment (ESA): Report from the 2023 EPAA partners' forum.

Environmental Safety Assessments (ESA) are mandatory for several regulatory purposes and are an important component of stewardship/sustainability initiatives. Fish testing is used for assessing chemical toxicity and bioaccumulation potential; amphibians are included in some jurisdictions and their use is increasing to assess endocrine disruption. Alternative methods are becoming more available, covering the principles of the 3Rs (i.

Plant secondary metabolites against biotic stresses for sustainable crop protection.

Sustainable agriculture practices are indispensable for achieving a hunger-free world, especially as the global population continues to expand. Biotic stresses, such as pathogens, insects, and pests, severely threaten global food security and crop productivity. Traditional chemical pesticides, while effective, can lead to environmental degradation and increase pest resistance over time.

Breast imaging readers' performance in the PERFORMS test-set based assessment scheme within the MyPeBS international randomised study.

Purpose: A survey conducted by the European Society of Breast Imaging (EUSOBI) in 2023 revealed significant variations in Quality Assurance (QA) practices across Europe. The UK encourages regular performance monitoring for screen readers. This study aimed to assess the variability in diagnostic performance among readers participating in a wider prospective randomised trial across multiple countries.

The role of non-respiratory arousals in residual daytime sleepiness in patients with obstructive sleep apnea treated with positive airway pressure: An analysis of the European Sleep Apnea Database registry.

Study Objectives: To assess the impact of the non-respiratory arousal burden at baseline polysomnography (PSG) on residual daytime sleepiness in positive airway pressure (PAP)-treated obstructive sleep apnea (OSA).

Methods: We included OSA patients from the European Sleep Apnea Database registry with available arousal data who had at least 2 treatment follow-up visits. The primary outcome was the Epworth Sleepiness Scale (ESS) score under PAP.

Focal mandibular osteonecrosis following intraosseous anesthesia: A case report.

Introduction And Importance: Intraosseous anesthesia (IOA), an important technique in dental anesthesia, delivers anesthetic directly into the bone, enhancing patient comfort and minimizing side effects. Despite advantages, several disadvantages are known such as injection discomfort, root damage, mechanical obstructions and needle fractures. This report highlights a rare yet significant complication of focal mandibular osteonecrosis following IOA.

Effect of by-products-based diet and intramuscular fat content on volatile compounds from pork.

This study evaluated the effects of a fibre- and fat-rich by-products-based diet and the intramuscular fat (IMF) content on volatile compounds in pork. Meat samples were collected from sixteen gilts included in a feeding trial. Half of the animals were fed a conventional diet based on wheat, maize, barley and soybean meal, whereas the other half were fed a by-products-based diet that contained corn germ meal, malt sprouts, crispbread meal and proticorn, but no cereals or soya.

Synergizing bioprinting and 3D cell culture to enhance tissue formation in printed synthetic constructs.

Bioprinting is currently the most promising method to biofabricate complex tissues in vitro with the potential to transform the future of organ transplantation and drug discovery. Efforts to create such tissues are, however, almost exclusively based on animal-derived materials, like gelatin methacryloyl, which have demonstrated efficacy in bioprinting of complex tissues. While these materials are already used in clinical applications, uncertainty about their safety still remains due to their animal origin.

Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.

Fewer than 10 % of children with diffuse midline glioma (DMG) survive 2 years from diagnosis. Radiation therapy remains the cornerstone of treatment and there are no medicinal products with regulatory approval. Although the biology of DMG is better characterized, this has not yet translated into effective treatments.

The 2024 Assisi think tank on breast cancer: Focus on the use of a tumour bed boost after breast conserving therapy.

At the Fifth Assisi Think Tank Meeting (ATTM) on breast cancer, one key topic was the role of tumor bed boost in invasive breast cancer and ductal carcinoma in situ. The need for a tumor bed boost after whole breast irradiation is controversial. A literature review assessed boost indications, target volume definition, techniques, dose fractionation, and ongoing trials.

Tumour-infiltrating Lymphocytes and Radiation Therapy in Rectal Cancer: Systematic Review and Meta-analysis.

Aim: Tumour-infiltrating lymphocytes (TILs) represent a promising cancer biomarker. Different TILs, including CD8+, CD4+, CD3+, and FOXP3+, have been associated with clinical outcomes. However, data are lacking regarding the value of TILs for patients receiving radiation therapy (RT).

Fertility in transgender and gender diverse people: systematic review of the effects of gender-affirming hormones on reproductive organs and fertility.

Background: Transgender and gender diverse (TGD) people seek gender-affirming care at any age to manage gender identities or expressions that differ from their birth gender. Gender-affirming hormone treatment (GAHT) and gender-affirming surgery may alter reproductive function and/or anatomy, limiting future reproductive options to varying degrees, if individuals desire to either give birth or become a biological parent.

Objective And Rationale: TGD people increasingly pursue help for their reproductive questions, including fertility, fertility preservation, active desire for children, and future options.

TCR transgenic clone selection guided by immune receptor analysis and single-cell RNA expression of polyclonal responders.

Since the precursor frequency of naive T cells is extremely low, investigating the early steps of antigen-specific T cell activation is challenging. To overcome this detection problem, adoptive transfer of a cohort of T cells purified from T cell receptor (TCR) transgenic donors has been extensively used but is not readily available for emerging pathogens. Constructing TCR transgenic mice from T cell hybridomas is a labor-intensive and sometimes erratic process, since the best clones are selected based on antigen-induced CD69 upregulation or IL-2 production in vitro, and TCR chains are polymerase chain reaction (PCR)-cloned into expression vectors.

Natural exposure to Chikungunya virus in golden-headed lion tamarin (Leontopithecus chrysomelas, Kuhl, 1820) from non-protected areas in southern Bahia, Brazil: Implications and significance.

Chikungunya virus (CHIKV) is primarily associated with non-human-primates (NHPs) in Africa, which also infect humans. Since its introduction to Brazil in 2014, CHIKV has predominantly thrived in urban cycles, involving Aedes aegypti mosquitoes. Limited knowledge exists regarding CHIKV occurrence and implications in rural and sylvatic cycles where neotropical NHPs are potential hosts, from which we highlight Leontopithecus chrysomelas (Kuhl, 1820), the golden-headed lion tamarin (GHLT), an endangered species endemic to the Atlantic Forest (AF) in Southern Bahia State, Brazil.

Community and familial dynamics influencing risk behavior for HIV acquisition among adolescent girls and young women in Uganda: Qualitative analysis using Protective Motivation Theory.

Background: In Uganda, adolescent girls', and young women's (AGYW-15-24 years) current HIV prevalence is fourfold compared with their male counterparts due to compounded social, economic, and environmental factors. Using the Protective Motivation Theory (PMT), we explored HIV-acquisition risk sources and perceived protective factors from AGYW and caregivers' perspective.

Materials And Methods: During 2018, we conducted a qualitative study guided by PMT to explore factors influencing HIV acquisition among AGYW.

Ascertaining the Environmental Advantages of Pavement Designs Incorporating Recycled Content through a Parametric and Probabilistic Approach.

Reclaimed asphalt pavement (RAP) is a widely used end-of-life (EoL) material in asphalt pavements to increase the material circularity. However, the performance loss due to using RAP in the asphalt binder layer often requires a thicker layer, leading to additional material usage, energy consumption, and transportation effort. In this study, we developed a parametric and probabilistic life cycle assessment (LCA) framework to robustly compare various pavement designs incorporating recycled materials.

Anatomical description and digital reconstruction of the skull of Jeholosaurus shangyuanensis (Dinosauria, Ornithopoda) from China.

Ornithopod dinosaurs appeared during the Middle Jurassic, but it was in the Lower Cretaceous they started their successful evolutionary history. Different phylogenies describing the evolutionary relationships of Ornithopoda are mostly based on cranial features, however there is a lack of well-preserved and complete skulls for the basal member of the clade, hampering our knowledge on the mode and tempo of these herbivorous dinosaurs. Here we describe YLSNHM 01942, a well-preserved skull of a juvenile neornithischian from the Liaoning Province of China.

Deterministic and stochastic effects drive the gut microbial diversity in cucurbit-feeding fruit flies (Diptera, Tephritidae).

Insect diversity is closely linked to the evolution of phytophagy, with most phytophagous insects showing a strong degree of specialisation for specific host plants. Recent studies suggest that the insect gut microbiome might be crucial in facilitating the dietary (host plant) range. This requires the formation of stable insect-microbiome associations, but it remains largely unclear which processes govern the assembly of insect microbiomes.