Impact of Soil Fertilization with Pig Slurry on Antibiotic Residues and Resistance Genes: A Longitudinal Study.

The impact of soil fertilization with animal manure on the spread and persistence of antibiotic resistance in the environment is far from being fully understood. To add knowledge about persistence and correlations between antibiotic residues and antibiotic resistance genes (ARGs) in fertilized soil, a longitudinal soil mesocosm study was conducted. Soil samples were collected from the mesocosms immediately before spreading and then afterward at fifteen time points during a 320-day observation period.

DAB2IP associates with hereditary angioedema: Insights into the role of VEGF signaling in HAE pathophysiology.

Background: In the recent years, there was an important improvement in the understanding of the pathogenesis of hereditary angioedema (HAE). Notwithstanding, in a large portion of patients with unknown mutation (HAE-UNK) the genetic cause remains to be identified.

Objectives: To identify new genetic targets associated with HAE, a large Argentine family with HAE-UNK spanning 3 generations was studied.

A computational study of the structure and function of human Zrt and Irt-like proteins metal transporters: An elevator-type transport mechanism predicted by AlphaFold2.

The ZIP (Zrt and Irt-like proteins) protein family includes transporters responsible for the translocation of zinc and other transition metals, such as iron and cadmium, between the extracellular space (or the lumen of organelles) and the cytoplasm. This protein family is present at all the phylogenetic levels, including bacteria, fungi, plants, insects, and mammals. ZIP proteins are responsible for the homeostasis of metals essential for the cell physiology.

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.

Background: Cobalamin metabolism disorders are rare, inherited diseases which cause megaloblastic anaemia and other clinical manifestations. Early diagnosis of these conditions is essential, in order to allow appropriate treatment as early as possible.

Case Presentation: Here we report the case of a patient who was apparently healthy until the age of 20, when she presented with impaired renal function and normocytic anaemia.

The lost children: The underdiagnosis of dyslexia in Italy. A cross-sectional national study.

Background: Developmental dyslexia is one of the most common neurobehavioral disorders affecting children, but prevalence data on this condition are poor. The objective of the present study is to determine the prevalence of dyslexia in Italy in an unselected school population, using clearly defined diagnostic criteria and methods.

Methods: Cross-sectional study carried out in nine Italian Regions: two located in Northern Italy (Friuli Venezia Giulia and Veneto), three in Central Italy (Marche, Lazio and Umbria) and four in Southern Italy (Abruzzo, Molise, Puglia and Sardegna).

Double de novo mutations in dilated cardiomyopathy with cardiac arrest.

Here we report the identification of two novel mutations in a previously asymptomatic young man who suffered an out-of-hospital sudden cardiac arrest. During following evaluation, diagnosis of early stage dilated cardiomyopathy was established, while electrocardiogram monitoring showed frequent complex ventricular arrhythmias, incomplete right bundle branch block and prolonged QT duration. No reversible causes explaining the clinical presentation were established and an automatic implantable cardioverter defibrillator was therefore implanted.

A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis.

Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema.

Background: Hereditary angioedema (HAE) is a rare genetic disease usually caused by mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of patients with HAE, no causative variants have been described, and the pathophysiology of the disease remains unknown (hereditary angioedema with yet unknown genetic defect [U-HAE]). Identification of causative genes in patients with U-HAE is valuable for understanding the cause of the disease.

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.

Hyperphenylalaninemias (HPAs) are genetic diseases predominantly caused by a wide range of variants in the phenylalanine hydroxylase (PAH) gene. In vitro expression analysis of PAH variants offers the opportunity to elucidate the molecular mechanisms involved in HPAs and to clarify whether a disease-associated variant is genuinely pathogenic, while investigating the severity of a metabolic phenotype, and determining how a variant exerts its deleterious effects on the PAH enzyme. To study the effects of gene variants on PAH activity, we investigated eight variants: c.

The first case of a small supernumerary marker chromosome derived from chromosome 10 in an adult woman with an apparently normal phenotype.

Small supernumerary marker chromosomes (sSMCs) originating from chromosome 10 are rare. A limited number of cases are documented. We report a new diagnosis of a mosaic sSMC (10) in a normal female who asked for genetic evaluation before undergoing controlled ovarian hyperstimulation, in vitro fertilization, and embryo transfer.

Phenylalanine hydroxylase deficiency in south Italy: Genotype-phenotype correlations, identification of a novel mutant PAH allele and prediction of BH4 responsiveness.

We investigated the mutation spectrum of the phenylalanine hydroxylase gene (PAH) in a cohort of patients from 33 Italian PKU families. Mutational screening of the known coding region, including conventional intron splice sites, was performed by direct sequencing of the patients' genomic DNA. Thirty-three different disease causing mutations were identified in our patient group, including 19 missense, 6 splicing, 3 nonsense, 5 deletions, with a detection rate of 100%.

Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.

Context: Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency, encoded by CYP21A2 gene, is an autosomal recessive disorder. The CYP21A2 gene, localized in a genetic unit defined RCCX module, is considered one of the most polymorphic of human genes.

Objectives: We considered new evidences about the presence of a RCCX trimodular haplotype with a CYP21A2-like gene to explain the lack of a genotype-phenotype correlation in individuals of two different families.

Intra-familiar discordant PKU phenotype explained by mutation analysis in three pedigrees.

Classical phenylketonuria (PKU) and mild hyperphenylalaninemia (MHP) are two phenotypes of phenylalanine hydroxylase (PAH) deficiency with different degrees of severity. We have analyzed three families in which classical PKU, MHP and a normal phenotype occurred within each family due to the different combinations of three mutations segregating within the family. Indeed, sequence PAH analysis revealed three different alleles segregating in each family.

Mutation analysis in hyperphenylalaninemia patients from South Italy.

Background: Mutations in the gene encoding phenylalanine hydroxylase (PAH, EC 1.14.16.

From genotype to apricot fruit quality: the antioxidant properties contribution.

Apricot fruit (Prunus armeniaca L.) quality strictly relates to the eating quality of fresh produce. Since consumers are more and more interested in healthy food, and apricot germplasm shows a wide choice of new selections and cultivars, apricot nutraceutical properties are under evaluation in order to select outstanding genotypes, which may link breeding and marketing.

Pomological and nutraceutical properties in apricot fruit: cultivation systems and cold storage fruit management.

We have investigated the effect of cultivation systems and fruit post-harvest management on the antioxidant properties of apricot fruits. Trees of five cultivars 'Tyrinthos', 'Cafona', 'Bella d'Italia', 'Vitillo' and 'Pellecchiella' were cultivated under integrated and organic systems. Fruits were collected at full maturity stage and analyzed either immediately or after storage at 4+/-0.

Transformation of a landfill covering amended with municipal waste compost, Perugia, Italy.

This research deals with the transformation of an anthropomorphous landfill covering composed of a fill soil mixed with mechanically separated municipal waste compost. The study site was a municipal landfill near Perugia, Italy. Throughout the years, waste disposal in the landfill was performed by burial in horizontal layers, each one representing a yearly disposal.

Genetic testing and breast cancer: the women's point of view.

Breast cancer is the most common cancer among women in Western countries (130,000 cases per year in Europe) and accounts for 20-25% of all malignancies in European women. In the past few years medical journals have focused greater attention on the quality and quantity of information provided to consumers; there is a general consensus amongst physicians on the importance of having better informed consumers. This change in attitude is influencing greatly the physician-patient relationship and political decisions.

Effects of concurrent use of alcohol and cocaine.

The combination of alcohol and cocaine is popular among drug users, perhaps because of more intense feelings of 'high' beyond that perceived with either drug alone, less intense feelings of alcohol-induced inebriation and tempering of discomfort when coming down from a cocaine 'high'. A review is presented of the medical literature on psychological and somatic effects and consequences of combined use of alcohol and cocaine in man. The search was carried out with Medline, the Science Citation Index/Web of Science and Toxline.

Surgical revascularization for acute coronary insufficiency: analysis of risk factors for hospital mortality.

Background: A retrospective study of 444 patients undergoing urgent and emergent coronary artery bypass grafting for acute coronary insufficiency was performed to identify the risk factors for hospital death specifically associated with the clinical severity of the acute coronary insufficiency syndrome.

Methods: The patients were divided into three groups-urgent, emergent A, and emergent B-on the basis of the evolution of the clinical pattern of the acute coronary insufficiency syndrome on full medical treatment. The three categories were defined as follows: urgent (257 patients), surgical revascularization could be delayed for 24 to 36 hours after surgical consultation because of adequate control of ischemia; emergent A (127 patients), prompt myocardial revascularization was required because medical treatment achieved only transient regression of an unrelenting ischemic pattern; and emergent B (60 patients), prompt myocardial revascularization was required because the acute coronary insufficiency was entirely refractory to medical treatment.

Pseudoaneurysm of the free wall of the left ventricle without obstruction of major coronary arteries.

We report a case of a 63-year-old woman who presented with pseudoaneurysm of the free wall of the left ventricle secondary to myocardial infarction, in the presence of angiographically normal major coronary arteries. This is the only such case we know of, in which the patient underwent successful surgical correction. At last follow-up, the patient was in good condition with no evidence of cardiac disease, at 9 years after surgery.