Publications by authors named "Giontella A"

Lipizzan is a famous horse breed dating back to 1580 when the original stud of Lipica was established by the Hasburg Archduke Charles II. Currently, the Italian State Stud of Lipizzan Horses (ASCAL) is a conservation nucleus managed through strict mating rules where mitochondrial DNA sequences are used to verify the correct assignment of mares to a historical pedigree maternal lineage. Here, we analyzed the D-loop sequences of Lipizzan horses from the ASCAL in Monterotondo (Rome, Italy) in order to confirm their pedigree assignment to known female founder families.

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Background: Patients with solitary functioning kidney appear to be exposed to an increased cardiovascular risk. This study aimed to evaluate the impact of peripheral and central blood pressure on subclinical cardiovascular organ damage in a sample of children and adolescents with solitary functioning kidney.

Methods: Carotid ultrasonography was performed to measure the carotid intima-media thickness (cIMT) and the carotid distensibility coefficient.

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Context: Peptidylglycine-α-amidating monooxygenase (PAM) is a critical enzyme in the endocrine system responsible for activation, by amidation, of bioactive peptides.

Objective: To define the clinical phenotype of carriers of genetic mutations associated with impaired PAM-amidating activity (PAM-AMA).

Design: We used genetic and phenotypic data from cohort studies: the Malmö Diet and Cancer (MDC; 1991-1996; reexamination in 2002-2012), the Malmö Preventive Project (MPP; 2002-2006), and the UK Biobank (UKB; 2012).

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Morphological scoring is a common evaluation method for domestic animals. The National Association of Maremmano Breeders (ANAM) has provided a dataset containing the records of 600 horses, four metric measurements (cm) and 24 traits with a continuous evaluation scale, each one with 15 classes. Moreover, a body condition score (BCS) with five classes is included.

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  • A study examined the effects of lifestyle, genetic factors, and cardiometabolic issues on chronic liver disease (CLD) using data from nearly 28,000 participants over a median follow-up of 25 years.
  • Results showed that multiple cardiometabolic risk factors significantly increased the likelihood of developing CLD, and unhealthy lifestyle choices greatly amplified this risk independently of genetic predisposition.
  • The findings highlight the primary role of lifestyle in CLD risk, while the polygenic risk scores had little additional predictive value, suggesting a need for greater focus on lifestyle interventions in liver disease prevention.
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Physical activity plays a pivotal role in preventing obesity and cardiovascular risks. The six-minute walk test (6MWT) is a tool to assess functional capacity and predict cardiovascular events. The aim of this cross-sectional study was to compare the performance and haemodynamic parameters before and after a 6MWT between obese/overweight vs.

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With his bicentennial breeding history based on athletic performance, the Thoroughbred horse can be considered the equine sport breed. Although genomic and transcriptomic tools and knowledge are at the state of the art in equine species, the epigenome and its modifications in response to environmental stimuli, such as training, are less studied. One of the major epigenetic modifications is cytosine methylation at 5' of DNA molecules.

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  • Adolescents with Autosomal Dominant Polycystic Kidney Disease (ADPKD) may experience early signs of hypertension and vascular damage, prompting a study on these factors in children with the condition.
  • Eleven children (average age 9.5 years) were assessed through various vascular measurements, revealing 4 were hypertensive, significant relative wall thickness (RWT), and a high rate of carotid intima-media thickness (cIMT) indicating vascular damage.
  • Findings suggest that subclinical cardiovascular issues, like increased RWT and high cIMT, occur in ADPKD children even before kidney function declines, along with a relationship between vascular stiffness and cardiac changes.
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Caffeine is a psychoactive substance widely consumed worldwide, mainly via sources such as coffee and tea. The effects of caffeine on kidney function remain unclear. We leveraged the genetic variants in the and genes via the two-sample Mendelian randomization (MR) framework to estimate the association of genetically predicted plasma caffeine and caffeine intake on kidney traits.

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Background: SARS- CoV-2 virus has had dramatic consequences worldwide being able to cause acute respiratory distress syndrome (ARDS), massive thrombosis and pulmonary embolism and, finally, patients' death. In COVID-19 infection, platelets have a procoagulant phenotype that can cause thrombosis in the pulmonary and systemic vascular network. Aspirin is a well-known anti-platelet drug widely used for the prevention of cardiovascular events and systematic reviews suggest a possible benefit of low-dose aspirin (LDA) use in the prevention and treatment of ARDS in patients with COVID-19 infection.

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Horse domestication and breed selection processes have profoundly influenced the development and transformation of human society and civilization over time. Therefore, their origin and history have always attracted much attention. In Italy, several local breeds have won prestigious awards thanks to their unique traits and socio-cultural peculiarities.

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Background: Fibroblast growth factor 21 (FGF21) has demonstrated efficacy for reducing liver fat and reversing non-alcoholic steatohepatitis in phase 2 clinical trials. It is also postulated to have anti-fibrotic effects and therefore may be amenable to repurposing for the prevention and treatment of chronic kidney disease (CKD).

Methods: We leverage a missense genetic variant, rs739320 in the FGF21 gene, that associates with magnetic resonance imaging-derived liver fat as a clinically validated and biologically plausible instrumental variable for studying the effects of FGF21 analogs.

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  • * A meta-analysis of 31 randomized controlled trials found that CPAP slightly improves insulin sensitivity and reduces total cholesterol levels, with greater benefits observed in pre-diabetic/type 2 diabetic patients and those with more severe OSA.
  • * Overall, while CPAP may offer some metabolic benefits, its effects are generally modest and may be more pronounced in specific subgroups of OSA patients.
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  • The study evaluated how oxidative stress, oxidized lipoproteins, and glycemic variability relate to early vascular damage in young individuals with type 1 diabetes.
  • Significant findings linked early vascular damage (measured by z-cIMT and z-PWV) to factors like male gender, blood pressure, insulin dosage, and oxidative stress levels.
  • Overall, oxidative stress and traditional risk factors like diabetes duration and blood pressure play a role in early macro-vascular issues in children and adolescents with type 1 diabetes.
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The Italian peninsula is in the center of the Mediterranean area, and historically it has been a hub for numerous human populations, cultures, and also animal species that enriched the hosted biodiversity. Horses are no exception to this phenomenon, with the peculiarity that the gene pool has been impacted by warfare and subsequent "colonization". In this study, using a comprehensive dataset for almost the entire Italian equine population, in addition to the most influential cosmopolitan breeds, we describe the current status of the modern Italian gene pool.

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The present equine genetic variation mirrors the deep influence of intensive breeding programs during the last 200 years. Here, we provide a comprehensive current state of knowledge on the trends and prospects on the variation in the equine male-specific region of the Y chromosome (MSY), which was assembled for the first time in 2018. In comparison with the other 12 mammalian species, horses are now the most represented, with 56 documented MSY genes.

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Context: Vitamin D (Vit-D), parathyroid hormone (PTH), and fibroblast growth factor 23 (FGF23) are the major calciotropic hormones involved in the regulation of blood calcium levels from the intestine, kidney, and bone through a tight endocrine feedback loop system. Altered levels of calcium itself or through the effect of its regulatory hormones could affect blood pressure (BP), but the exact mechanisms remain unclear.

Objective: To evaluate whether a causal relationship exists between serum calcium level and/or the regulatory hormones involved in its homeostasis with BP, we performed a two-sample Mendelian randomization (MR) study.

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  • Type 1 diabetes (T1D) leads to subclinical vascular damage that can result in cardiovascular issues, making it crucial to understand various cardiovascular risk factors in T1D patients.
  • The study analyzed 172 young adults with T1D to investigate the connection between subclinical arterial damage markers and traditional cardiovascular risk factors, focusing on blood pressure metrics.
  • Results showed a significant association between central blood pressure (cBP) and subclinical damage markers, emphasizing the importance of hemodynamic factors in the early development of cardiovascular disease in T1D patients.
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Body fat distribution is a major, heritable risk factor for cardiometabolic disease, independent of overall adiposity. Using exome-sequencing in 618,375 individuals (including 160,058 non-Europeans) from the UK, Sweden and Mexico, we identify 16 genes associated with fat distribution at exome-wide significance. We show 6-fold larger effect for fat-distribution associated rare coding variants compared with fine-mapped common alleles, enrichment for genes expressed in adipose tissue and causal genes for partial lipodystrophies, and evidence of sex-dimorphism.

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Thyroid function has a widespread effect on the cardiometabolic system. However, the causal association between either subclinical hyper- or hypothyroidism and the thyroid hormones with blood pressure (BP) and cardiovascular diseases (CVD) is not clear. We aim to investigate this in a two-sample Mendelian randomization (MR) study.

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The aim was to assess the effects of (AN) with/without C-3102 as alternative treatments for Chronic Inflammatory Enteropathy (CIE) of dogs. Fourteen CIE patients, which had received the same control (CTR) diet, were enrolled to serially receive three diets: (1) hydrolysed protein (HP) diet; (2) 4.0% AN supplemented HP (HPA) food, (3) HPA diet fortified with 125 billion C-3102 spores/10 kg body weight (HPAB diet).

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While butorphanol is the most commonly used opioid in horses, methadone is not licensed in most countries. Our aim was to compare the effects of both drugs, combined with romifidine, regarding the quality of sedation and induction in horses undergoing elective surgery. Results indicate the suitability of both methadone and butorphanol in this patient population.

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This study aimed to test the effect of multiple cardiovascular risk factors on subclinical indices of atherosclerosis in children and adolescents with type 1 diabetes (T1D). Carotid intima-media thickness (cIMT), carotid distensibility coefficient (cDC), and carotid-femoral pulse wave velocity (PWV) were measured in children and adolescents with T1D, in a follow-up at the outpatient clinics of Verona. Blood pressure (BP; both central and peripheral), metabolic and other cardiovascular risk factors were evaluated in multivariate linear regressions to assess the association with the measured indices of subclinical vascular damage.

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Background Different adiposity traits may be causally related to hypertension in different ways. By using genetic variants as randomly allocated proxies for studying the effect of modifying adiposity traits, the Mendelian randomization approach can be used to investigate this. Methods and Results In this study, we used 4 different genetic risk scores (GRS; GRS-BMI, GRS-WHR, GRS-VAT, GRS-BF) including hundreds of single nucleotide polymorphisms associated with body mass index, waist-to-hip ratio, visceral adipose tissue, and body fat, respectively.

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