Risk factors for hospital admission and length of stay for children with and without congenital anomalies: a EUROlinkCAT cohort study.

Objective: To evaluate risk factors for hospital admission and length of stay (LOS) among children with and without congenital anomalies (CAs).

Design: A population-based linkage cohort study including 50 353 children with major CAs and 1 259 925 children without CAs from four EUROCAT registry areas in three countries. Data on children born 1995-2014 were linked to hospital discharge databases 1995-2015.

The Complex Gene-Carbohydrate Interaction in Type 2 Diabetes: Between Current Knowledge and Future Perspectives.

Type 2 diabetes (T2D) represents a public health problem globally, with the highest prevalence reported among older adults. While an interplay of various determinants including genetic, epigenetic, environmental factors and unhealthy lifestyle, particularly diet, has been established to contribute to T2D development, emerging evidence supports the role of interactions between nutrients or dietary patterns and genes in the pathogenesis of this metabolic disorder. The amount, and especially the type of carbohydrates, in particular, have been correlated with the risk of non-communicable chronic disease and mortality.

Hierarchical paclitaxel encapsulation in microbead-embedded microparticles for sustained ovarian cancer therapy.

Ovarian cancer (OC) is the most lethal gynecologic malignancy, often diagnosed at advanced stages due to clinically silent peritoneal carcinomatosis. Although intraperitoneal (IP) chemotherapy enhances drug exposure, its effectiveness is hindered by rapid clearance, toxicity, and uneven distribution. To address these challenges, we developed a novel drug delivery system integrating paclitaxel (PTX)-loaded poly(lactic-co-glycolic acid) microparticles (PLGA-MPs) within calcium-alginate microbeads (Alg-MBs).

The Role of Microbiota in the Pathogenesis of Bullous Pemphigoid and Pemphigus Vulgaris: Evidence, Controversies, and Perspectives.

Bullous pemphigoid (BP) and pemphigus vulgaris (PV) represent the most prevalent conditions among autoimmune bullous skin diseases, considered a major cause of severe morbidity and, in certain cases, mortality. The hallmark of the two diseases is the presence of autoantibodies directed against proteins located in the basement membrane of the skin, which determines the formation of blisters. In recent years, interest in the role of microbiota in relation to health-disease status has progressively increased.

Distinctive features of blood- and ascitic fluid-derived extracellular vesicles in ovarian cancer patients.

Background: Ovarian cancer (OC) is a highly aggressive malignancy characterized by early dissemination of cancer cells from the surface of the ovary to the peritoneum. To gain a deeper understanding of the mechanisms associated with this intraperitoneal spread, we aimed to characterize the role of extracellular vesicles (EVs) in metastatic colonization in OC.

Methods: To this purpose, a total of 150 samples of ascitic fluids, blood serum, tumor and normal tissues from 60 OC patients, were extensively analyzed to characterize the EVs released in blood and ascitic fluids of OC patients, in terms of size, expression of superficial epitopes and abundance of miRNAs biocargo.

Interplay and Dynamics of Chromatin Architecture and DNA Damage Response: An Overview.

Genome stability is safeguarded by a finely orchestrated cascade of events that collectively represent the DNA damage response (DDR). In eukaryotes, the DDR operates within the dynamic chromatin landscape, where the interplay between DNA repair factors, chromatin remodeling, replication, transcription, spatial genome organization, and cytoskeletal forces is tightly coordinated. High-resolution studies have unveiled chromatin alterations spanning multiple scales, from localized kilobase-level changes to megabase-scale reorganization, which impact chromatin's physical properties and enhance the mobility of damaged regions.

MicroRNA profiling reveals potential biomarkers for the early transformation of endometriosis towards endometriosis-correlated ovarian cancer.

Background: Endometriosis (EMS) is a chronic, gynecological condition affecting 6-10 % of reproductive-age women. While these lesions are benign, ovarian EMS presents cancer-like features, and can progress to endometriosis-correlated ovarian cancer (ECOC) through a multistep process. Given the regulatory role of miRNAs in gene expression and biological pathways, we aimed to identify miRNAs associated with the malignant transformation of ovarian EMS, which could serve as a potential diagnostic tool for the early identification of such patients.

Psychophysiological correlates of science communicators.

We conducted a study in an ecological setting to evaluate the heart rate variability (HRV) of expert communicators during a live national primetime video interview. The study involved 32 expert science communicators, all with mid- to long-term experience in public speaking and outreach work, who were evaluated by an external jury to assess their communication skills. Prior to the experiment, participants completed an online survey to gather socio-demographic data, work-related information, and psychological profiles.

Phthalates and Non-Phthalate Plasticizers and Thyroid Dysfunction: Current Evidence and Novel Strategies to Reduce Their Spread in Food Industry and Environment.

Thyroid hormones (THs) play a crucial role in various biological functions, including metabolism, cell growth, and nervous system development, and any alteration involving the structure of the thyroid gland and TH secretion may result in thyroid disease. Growing evidence suggests that phthalate plasticizers, which are commonly used in a wide range of products (e.g.

Ambient Air Pollution and Congenital Heart Disease: Updated Evidence and Future Challenges.

Congenital heart disease (CHD) represents the major cause of infant mortality related to congenital anomalies globally. The etiology of CHD is mostly multifactorial, with environmental determinants, including maternal exposure to ambient air pollutants, assumed to contribute to CHD development. While particulate matter (PM) is responsible for millions of premature deaths every year, overall ambient air pollutants (PM, nitrogen and sulfur dioxide, ozone, and carbon monoxide) are known to increase the risk of adverse pregnancy outcomes.

Targeting the 8-oxodG Base Excision Repair Pathway for Cancer Therapy.

Genomic integrity is critical for cellular homeostasis, preventing the accumulation of mutations that can drive diseases such as cancer. Among the mechanisms safeguarding genomic stability, the Base Excision Repair (BER) pathway plays a pivotal role in counteracting oxidative DNA damage caused by reactive oxygen species. Central to this pathway are enzymes like 8-oxoguanine glycosylase 1 (OGG1), which recognize and excise 8-oxo-7,8-dihydro-2'-deoxyguanosine (8-oxodG) lesions, thereby initiating a series of repair processes that restore DNA integrity.

Evaluation of the Anti-Cancer Potential of Extracellular Vesicles Derived from Human Amniotic Fluid Stem Cells: Focus on Effective miRNAs in the Treatment of Melanoma Progression.

Mesenchymal stromal cells (MSCs) and their secretome show intrinsic antitumor properties, however, the anti-cancer effects of MSCs remain debated and depend on the cancer type or model. MSCs derived from discarded samples, such as human amniotic fluid (hAFSC), have been introduced as an attractive and potent stem cell source for clinical applications due to their collection procedures, which minimize ethical issues. Until now, various studies have obtained controversial results and poor understanding of the mechanisms behind the effects of perinatal cells on cancer cells.

Vitamin C in the Management of Thyroid Cancer: A Highway to New Treatment?

Thyroid cancer (TC) is the most common endocrine malignancy, with an increased global incidence in recent decades, despite a substantially unchanged survival. While TC has an excellent overall prognosis, some types of TC are associated with worse patient outcomes, depending on the genetic setting. Furthermore, oxidative stress is related to more aggressive features of TC.

Metal Toxicity and Dementia Including Frontotemporal Dementia: Current State of Knowledge.

Frontotemporal dementia (FTD) includes a number of neurodegenerative diseases, often with early onset (before 65 years old), characterized by progressive, irreversible deficits in behavioral, linguistic, and executive functions, which are often difficult to diagnose due to their similar phenotypic characteristics to other dementias and psychiatric disorders. The genetic contribution is of utmost importance, although environmental risk factors also play a role in its pathophysiology. In fact, some metals are known to produce free radicals, which, accumulating in the brain over time, can induce oxidative stress, inflammation, and protein misfolding, all of these being key features of FTD and similar conditions.

Vitamin D: An Essential Nutrient in the Dual Relationship between Autoimmune Thyroid Diseases and Celiac Disease-A Comprehensive Review.

Autoimmune thyroid diseases (AITD) are among the most frequent autoimmune disorders, with a multifactorial etiology in which both genetic and environmental determinants are probably involved. Celiac disease (CeD) also represents a public concern, given its increasing prevalence due to the recent improvement of screening programs, leading to the detection of silent subtypes. The two conditions may be closely associated due to common risk factors, including genetic setting, changes in the composition and diversity of the gut microbiota, and deficiency of nutrients like vitamin D.

Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication.

ATP2B1 is a known regulator of calcium (Ca) cellular export and homeostasis. Diminished levels of intracellular Ca content have been suggested to impair SARS-CoV-2 replication. Here, we demonstrate that a nontoxic caloxin-derivative compound (PI-7) reduces intracellular Ca levels and impairs SARS-CoV-2 infection.

Biochemical properties of chromatin domains define genome compartmentalization.

Chromatin three-dimensional (3D) organization inside the cell nucleus determines the separation of euchromatin and heterochromatin domains. Their segregation results in the definition of active and inactive chromatin compartments, whereby the local concentration of associated proteins, RNA and DNA results in the formation of distinct subnuclear structures. Thus, chromatin domains spatially confined in a specific 3D nuclear compartment are expected to share similar epigenetic features and biochemical properties, in terms of accessibility and solubility.

Hypothyroidism in Patients with Down Syndrome: Prevalence and Association with Congenital Heart Defects.

This population-based study aimed to assess the prevalence of congenital hypothyroidism (CH) and overt hypothyroidism (OH) and their association with congenital heart defects (CHDs) in patients with Down syndrome (DS). The population included all live births residing in Tuscany (Italy) diagnosed with DS recorded in the Registry of Congenital Defects and in the Registry of Rare Diseases of Tuscany in the years 2003-2017. The prevalence of CH and OH in DS patients was calculated by sex and by period.

L. Fractions Exhibit Chemotherapeutic Properties for the Treatment of Gastrointestinal Stromal Tumors.

Novel treatments in gastrointestinal stromal tumors (GISTs) are essential due to imatinib resistance and the modest results obtained with multi-target tyrosine kinase inhibitors. We investigated the possibility that the hydroalcoholic extract from the leaves of L. (AUN) could harbor novel chemotherapeutics.

Hospital care in the first 10 years of life of children with congenital anomalies in six European countries: data from the EUROlinkCAT cohort linkage study.

Objective: To quantify the hospital care for children born with a major congenital anomaly up to 10 years of age compared with children without a congenital anomaly.

Design, Setting And Patients: 79 591 children with congenital anomalies and 2 021 772 children without congenital anomalies born 1995-2014 in six European countries in seven regions covered by congenital anomaly registries were linked to inpatient electronic health records up to their 10th birthday.

Main Outcome Measures: Number of days in hospital and number of surgeries.

miRNA levels are associated with body mass index in endometrial cancer and may have implications for therapy.

Endometrial cancer (EC) is the most prevalent gynecological cancer in high-income countries. Its incidence is skyrocketing due to the increase in risk factors such as obesity, which represents a true pandemic. This study aimed to evaluate microRNA (miRNA) expression in obesity-related EC to identify potential associations between this specific cancer type and obesity.

Accumulation of 8-oxodG within the human mitochondrial genome positively associates with transcription.

Mitochondrial DNA (mtDNA) can be subject to internal and environmental stressors that lead to oxidatively generated damage and the formation of 8-oxo-7,8-dihydro-2'-deoxyguanine (8-oxodG). The accumulation of 8-oxodG has been linked to degenerative diseases and aging, as well as cancer. Despite the well-described implications of 8-oxodG in mtDNA for mitochondrial function, there have been no reports of mapping of 8-oxodG across the mitochondrial genome.

Tumor Microbial Communities and Thyroid Cancer Development-The Protective Role of Antioxidant Nutrients: Application Strategies and Future Directions.

Thyroid cancer (TC), the most frequent malignancy of the endocrine system, has recorded an increasing incidence in the last decades. The etiology of TC remains at least partly unknown and, among modifiable risk factors, the gut microbiota and dietary nutrients (vitamins, essential microelements, polyphenols, probiotics) have been recognized to not only influence thyroid function, but exert critical effects on TC development and progression. Recent discoveries on the existence of tumor microbiota also in the TC microenvironment provide further evidence for the essential role of tumor microorganisms in TC etiology and severity, as well as acting as prognostic markers and as a potential target of adjuvant care in the treatment of TC patients.

Leveraging Tissue-Specific Enhancer-Target Gene Regulatory Networks Identifies Enhancer Somatic Mutations That Functionally Impact Lung Cancer.

Unlabelled: Enhancers are noncoding regulatory DNA regions that modulate the transcription of target genes, often over large distances along with the genomic sequence. Enhancer alterations have been associated with various pathological conditions, including cancer. However, the identification and characterization of somatic mutations in noncoding regulatory regions with a functional effect on tumorigenesis and prognosis remain a major challenge.

Rationale and design of the CV-PREVITAL study: an Italian multiple cohort randomised controlled trial investigating innovative digital strategies in primary cardiovascular prevention.

Introduction: Prevention of cardiovascular disease (CVD) is of key importance in reducing morbidity, disability and mortality worldwide. Observational studies suggest that digital health interventions can be an effective strategy to reduce cardiovascular (CV) risk. However, evidence from large randomised clinical trials is lacking.