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The history of the Earth is a story of the co-evolution of minerals and microbes: not only have numerous rocks arisen from life but also life itself may have formed from rocks. To understand the strong association between microbes and inorganic substrates, we investigated the moonmilk, a calcium carbonate deposit of possible microbial origin, occurring in the Iron Age Etruscan necropolis of Tarquinia, in Italy. These tombs provide a unique environment where the hypogeal walls of the tombs are covered by this speleothem. To study moonmilk formation, we investigated the bacterial community in the rock in which the tombs were carved: calcarenite and hybrid sandstone. We present the first evidence that moonmilk precipitation is driven by microbes within the rocks and not only on the rock surfaces. We also describe how the moonmilk produced within the rocks contributes to rock formation and evolution. The microbial communities of the calcarenite and hybrid sandstone displayed, at the phylum level, the same microbial pattern of the moonmilk sampled from the walls of the hypogeal tombs, suggesting that the moonmilk originates from the metabolism of an endolytic bacterial community. The calcite moonmilk is the only known carbonate speleothem on Earth with undoubted biogenic origin, thus representing a robust and credible biosignature of life. Its presence in the inner parts of rocks adds to its characteristics as a biosignature. [ABSTRACT FROM AUTHOR]

Ocimum basilicum (sweet basil) is an economically important aromatic herb; in Italy, approximately 1000 ha of "Genovese-type" basil are grown annually in greenhouses and open fields and are subjected to Downy Mildew (DM) disease, caused by Peronospora belbahrii, leading to huge crop losses. Mutation of the Susceptibility (S) gene DMR6 (Downy Mildew Resistant 6) has been proven to confer a broad-spectrum resistance to DM. In this work, an effective Genome Editing (GE) approach mediated by CRISPR/Cas9 in O. basilicum 'Italiko', the élite cultivar used to produce "Pesto Genovese D.O.P", was developed. A highly efficient genetic transformation method mediated by A. tumefaciens has been optimized from cotyledonary nodes, obtaining 82.2% of regenerated shoots, 84.6% of which resulted in Cas9+ plants. Eleven T0 lines presented different type of mutations in ObDMR6; 60% were indel frameshift mutations with knock-out of ObDMR6 of 'FT Italiko'. Analysis of six T1 transgene-free seedlings revealed that the mutations of T0 plants were inherited and segregated. Based on infection trials conducted on T0 plants, clone 22B showed a very low percentage of disease incidence after 14 days post infection. The aromatic profile of all in vitro edited plants was also reported; all of them showed oxygenated monoterpenes as the major fraction. [ABSTRACT FROM AUTHOR]

The history of Earth is a story of co-evolution of minerals and microbes: not only numerous rocks arisen from life, but the life itself may have formed from rocks. To understand the strong association between microbes and inorganic substrates, we investigated the moonmilk, a speleothem of calcium carbonate of microbial origin, present in the Iron Age Etruscan Necropolis of Tarquinia, in Italy. These tombs present a unique environment where the hypogeal walls of the tombs are covered by this speleothem. To study moonmilk formation, we investigated the bacterial community in the rock in which the tombs are carved: calcarenite and hybrid sandstone. We present the first evidence that moonmilk precipitation is driven by microbes within the rocks and not only on the rock surfaces. We also describe how the moonmilk produced within the rocks contributes to rock formation and evolution. The microbial communities of the calcarenite and hybrid sandstone displayed, at phylum level, the same microbial pattern of the moonmilk sampled from the walls of the hypogeal tombs, pointing out that the moonmilk originates from the metabolism of endolytic bacterial community. The calcite speleothem moonmilk is the only known carbonate speleothem on Earth with undoubted biogenic origin, thus representing a robust and credible biosignature of life. Its presence in the inner parts of rocks adds to its characteristics as a biosignature. [ABSTRACT FROM AUTHOR]

In the frame of the HERACLES (HEritage Resilience Against CLimate Events on Site) project, a set of cultural heritage sites was studied to improve their resilience against climate events. The mediaeval Town Walls of Gubbio, in the centre of Italy, are among these. Over the centuries, several factors including environmental actions and structural and material repairs have produced different criticalities, involving both structure and materials. A severe problem consists in the progressive degradation of the mortars binding the masonry. Since the wall body structure behaves/reacts properly only if the cohesion between mortar and stones is sufficiently large, it follows that mortars degradation represents a quite significant issue that deserves a special attention. The present work focuses on the characterization of the mortars sampled in various parts of the Walls, corresponding to different historical periods, restoration measures and interventions. They were characterized to determine the corresponding mineralogical and chemical compositions along with morphological features and to investigate their mechanical properties. For that purpose, penetrometric and sclerometric tests on site and ex situ laboratory techniques, such as X-ray diffraction, polarized light microscopy, scanning electron microscopy, thermogravimetry and differential thermal analysis, were used to examine the weathering effects on mortars and more generally their degradation state, in order to plan appropriate restoration and repair actions. [ABSTRACT FROM AUTHOR]

OBJECTIVE Pendred's syndrome is an autosomal recessive disorder characterized by goitre, sensorineural deafness and iodide organification defect. It is one of the most frequent causes of congenital deafness, accounting for about 10% of hereditary hearing loss. It is caused by mutations in the pendrin (PDS) gene, a 21 exon gene located on chromosome 7. The aim of this study was to examine an Italian family affected with Pendred's syndrome at the molecular level. PATIENTS Thirteen subjects belonging to a family from Southern Italy were evaluated for the clinical and genetic features of Pendred's syndrome. MEASUREMENTS Exons 2–21 of the PDS gene were amplified from peripheral leucocytes by the polymerase chain reaction; mutation analysis was performed by single strand conformation polymorphism, direct sequencing and restriction analysis. RESULTS The index patient had the classical triad of the syndrome and harboured two mutations in the PDS gene in the form of compound heterozygosity. He was found to be heterozygous for a cytosine to adenosine mutation at nucleotide 1523 in exon 13 and for a IVS 1001 + 1G → A mutation. The former is a novel mutation which results in a change of 508 threonine to asparagine in the putative eleventh transmembrane domain. The latter mutation in the donor splice site has already been described in other patients and is thought to lead to aberrant splicing and premature protein truncation. Three subjects who were heterozygous for one mutation had normal phenotypes. Two subjects had sensorineural deafness and were heterozygous for a single mutation. Goitre was found only in patients with Pendred's syndrome and was absent in all other individuals, albeit residing in an iodine-deficient area. CONCLUSIONS We have identified a novel mutation in the pendrin gene causing Pendred's syndrome, and confirm that molecular analysis is a useful tool for a definitive diagnosis. This is particularly relevant in cases such as in the subjects... [ABSTRACT FROM AUTHOR]

The Pleistocene (~460–265 ka) San Venanzo volcanic complex belongs to the IAP (Intra-Apennine Province) in central Italy, which comprises at least four small Pleistocene monogenetic volcanoes plus several unrooted pyroclastic deposits with peculiar mineralogical and whole-rock chemical compositions. San Venanzo products are strongly SiO 2 -undersaturated, CaO- and MgO-rich and show ultrapotassic serial character. The relatively common occurrence of calcite in the pyroclastic rocks and the overall high CaO content are interpreted in literature as primary mineral. The main rock facies at San Venanzo are calcite-rich scoria and lapilli tuffs, with minor massive lava flows, and a rare pegmatoid variant (melilitolitic pockets). All the San Venanzo rocks are feldspar-free, with a typical paragenesis of forsteritic olivine, non-stoichiometric Ca-rich diopside, melilite, leucite, kalsilite, opaque minerals, nepheline, phlogopite, calcite, apatite, cuspidine, wollastonite, kirschsteinite-monticellite s.s. ± glass and other minor and very rare minerals typical of agpaitic melts. Based on petrographic analyses, the studied rocks can be classified as olivine melilitites, olivine leucite melilitites, venanzites (a local variant of kamafugites), calcite leucite melilitolites and Ca-rich olivine leucite melilitite tuffs. Mass balance calculations indicate a direct genetic link between the lava bodies and the pegmatoid melilitolitic pocket through a fractional crystallization process characterized by the removal of ~74% of a melilite-bearing uganditic cumulate made up of melilite, leucite, olivine, kalsilite and chromite. Primitive mantle-normalized patterns of the lavas and tuffs are rather spiked and share negative anomalies for Ba, Nb, Ta, P and Ti resembling typical magmas generated by supra-subduction mantle wedge. These compositions are very different from the only two other kamafugite localities outside Italy (Toro Ankole and Virunga in the East Africa Rift and Alto Paranaiba Igneous Province in SE Brazil). The melilitolite sample is more incompatible element-enriched than the other San Venanzo volcanic rocks, coherently with its evolved liquid composition proposed here. Major and trace element contents indicate a general depletion proportional to the amount of CaO content. The negative trends in Harker-type diagrams with CaO as abscissa are compatible with a process of variable interaction between a silicate magma with sedimentary marly carbonates/limestones. The presence of Mg-rich (Fo 97 – 92) and rim-ward CaO-enriched (up to 1.72 wt%) euhedral olivine, as well as the presence of thin kirschsteinite rim around olivine crystals agree with a process of crustal carbonate assimilation by an originally strongly SiO 2 -undersaturated silicate magma. On the other hand, the lack of feldspars even in the rocks with the highest SiO 2 , the high CaO content, and the extreme SiO 2 -undersaturation of San Venanzo rocks exclude their derivation from a simple peridotitic source. In order to generate these peculiar compositions, the presence of a SiO 2 -K 2 O-CaO-rich H 2 O-bearing component, identified in a carbonated phlogopite peridotite is required. The results of different isotopic systematics (Sr-Nd-Pb-He-Ne-Ar) presented here are compatible with a process of crustal contamination both at mantle source levels (to explain the general N-S isotopic trends recorded in Quaternary volcanic rocks of Italian peninsula and Sicily) and with interaction of ultrabasic melts with limestones at shallow crustal depths. Unlabelled Image [ABSTRACT FROM AUTHOR]

Coronary artery disease (CAD) risk is greater with higher plasma lipoprotein(a)[Lp(a)] concentrations or smaller apoisoform size and putatively with increased cellular cholesterol loading capacity (CLC). The relationship between Lp(a) and CLC is not known. Information on Lp(a) polymorphisms in Italian patients is lacking. The objective of this study was to determine relationships between Lp(a) and CLC, the impact of lipoprotein apheresis (LA), and describe the genetic profile of Lp(a). We conducted a multicenter, observational study in Italian patients with hyperLp(a) and premature CAD with (n = 18)/without (n = 16) LA in which blood samples were analyzed for Lp(a) parameter and CLC. Genetic profiling of LPA was conducted in patient receiving LA. Mean macrophage CLC of the pre-LA serum was significantly higher than that of normolipidemic controls (19.7 ± 0.9 μg/mg vs 16.01 ± 0.98 μg/mg of protein, respectively). After LA, serum macrophage CLC was markedly lower relative to preapheresis (16.1 ± 0.8 μg/mg protein; P =.003) and comparable with CLC of the normolipidemic serum. LA did not significantly affect average apo(a) isoform size distribution. No anthropometric or lipid parameters studied were related to serum CLC, but there was a relationship between CLC and the Lp(a) plasma concentration (P =.035). DNA analysis revealed a range of common genetic variants. Two rare, new variants were identified: LPA exon 21, c.3269C>G, p.Pro1090Arg, and rs41259144 p.Arg990Gln, c.2969G>A LA reduces serum Lp(a) and also reduces macrophage CLC. Novel genetic variants of the LPA gene were identified, and geographic variations were noted. The complexity of these polymorphisms means that genetic assessment is not a predictor of CAD risk in hyperLp(a). • Coronary heart disease risk is more frequent in patients with elevated plasma lipoprotein(a) [Lp(a)] levels. • A multicenter study on Italian patients with hyperLp(a) and cardiovascular disease was carried out. • The lipoprotein apheresis impact on Lp(a), cholesterol loading capacity, and apo(a) isoform size was investigated. • The DNA study of Lp(a) gene revealed 2 rare variants and a range of common variants. • The genetic study of Lp(a) does not predict coronary heart disease risk. Lipoprotein apheresis decreased macrophages cholesterol loading capacity. [ABSTRACT FROM AUTHOR]

Abstract: The present-day northern Apennines represent an area where two different orogenic cycles took place. The most ancient is the Alpine Orogeny, initiated with a south- to south-eastward subduction of oceanic lithosphere (Early Cretaceous to Late Eocene phase), followed by continental collision. The younger is referred to the Apennines Orogeny, characterized by a west- to north-westward oceanic lithosphere subduction started from Late Eocene and still active in the southernmost sectors of Italy (Calabrian Arc). In this framework, during the Early Oligocene, an ~800m thick conglomeratic succession extremely rich in volcanic material (up to ~90% in volume) was deposited in the Northern Apennines, forming the Aveto-Petrignacola Formation (APF). The volcanic fraction of this succession is made up of basaltic andesites, andesites and dacites, with minor rhyolites, basalts and gabbros found as pebbles ~0.001–0.5m3 in size. Petrographic, mineral chemical, major and trace element analyses, as well as Sr–Nd–Pb isotopic ratios are compatible with calc-alkaline magmatism generated as a consequence of metasomatic modifications related to the subduction of oceanic lithosphere. The large spectrum of lithologies is compatible with processes of fractional crystallization of the main phases observed in thin sections. However, the large range of isotopic ratios (87Sr/86Sr=0.7044–0.71013; 143Nd/144Nd=0.51278–0.51223; 206Pb/204Pb=18.44–18.83; 207Pb/204Pb=15.55–15.67; 208Pb/204Pb=38.05–38.85) suggests the presence of heterogeneous mantle sources, possibly coupled with interaction of melts with crustal rocks at shallow depth. On the basis of field geology constraints, we propose that the subduction-related geochemical and mineralogical characteristics of the APF volcanic rocks reflect ancient modifications of their mantle sources, lacking any evidence for a genetic link with the Apennine subduction system. Subduction-related metasomatism of APF mantle sources likely occurred during the older south-east dipping subduction of the Alpine Tethys under Northern Adria (present day Northern Italy). [Copyright &y& Elsevier]

Introduction: The aim of this article was to study the course of seasonal allergic rhinitis during COVID-19 lockdown in order to understand if being quarantined at home for a long time can constitute a protective factor for allergic patients., Materials and Methods: Telehealth consultations were performed by the departments of Otolaryngology of Foggia and Bari University Hospitals. Participants took part in a phone interview and were asked about their sinonasal symptoms during the COVID-19 lockdown, by answering the sinonasal outcome test (I-SNOT-22) questionnaire. Further data concerning the medications used to treat allergy and the number of days per month in which they were used were collected. The responses about the COVID-19 lockdown were compared to those obtained by the same patients in our clinics the previous year. The statistical analysis was executed by using the paired sample t-test and the Bartlett test considering as significant values with p values <0.05., Results: Forty patients affected by cypress pollen allergy visited at Foggia and Bari University Hospitals were enrolled in this study. All I-SNOT-22 scores concerning the COVID-19 lockdown were lower than those of the previous year; moreover, 18 (81.8%) clinical parameters were statistically significant (p<0.05). Also, in regard to the treatment, results about COVID-19 lockdown were overall better than those of 2019, with 50% (n=3) of the investigated drugs, reporting statistical significance (p<0.05)., Conclusions: The present study was able to evidence the fundamental role of primary prevention in Allergology. Paradoxically, the home quarantine ordered by the Italian Government appeared to be an effective measure not only in the fight against COVID-19 but also against pollen exposure.

Introduction: Studies on the epidemiology of primary sclerosing cholangitis (PSC) are mainly based on tertiary referral centers; and are retrospective case series susceptible to selection bias . The aim of this study was to estimate incidence; survival and cause of mortality of PSC in Italy; using population-based data. Methods: Data collected from the National Rare Diseases Registry (RNMR) and the National Mortality Database (NMD) were integrated and analyzed. Results: We identified 502 PSC incident cases. The crude incidence rate between 2012 and 2014 was 0.10 per 100,000 individuals. Sixty percent were male; mean age at disease onset and at diagnosis were 33 and 37 years; respectively; highlighting a mean diagnostic delay of 4 years. The rate of interregional mobility was 12%. Ten-year survival was 92%. In 32% of cases the cause of death was biliary-related; 12% died of biliary or gallbladder cancer. Conclusions: For rare diseases such as PSC; population-based cohort's studies are of paramount importance. Incidence rates of PSC in Italy are markedly lower and survival much longer than the ones reported from tertiary; single-centre series. Moreover; the diagnostic delay and the patient interregional mobility highlights the need for increasing awareness on the disease and for resource reallocation among Italian regions within the National Health Service.

Background: Immunization against poliomyelitis is recommended for international travelers to developing countries. However, the level of antibodies varies even in previously unvaccinated persons, due to wild-type or vaccine-type infections in the eldest travelers., Methods: In 1999, we conducted a seroprevalence study in the Lombardy region (northern Italy), using sera collected in 1994 from a population aged 50 to 59 years. The study subjects were consecutive, randomly selected travelers enrolled in an anti-hepatitis A virus antibody study. Neutralizing antibodies were titrated on Vero cells in microtiter plates. Each serum dilution (1:8 to 1:256) was challenged against 100 tissue culture infective doses of the three Sabin strains. Titers> 1:8 were considered to be protective., Results: We studied 98 travelers, 59 male and 39 female, of mean age 54 years. Seventy-three (74.4%) reported previous travel abroad, but none had been vaccinated against polio. Dietary habits included consumption of seafood in 74.4% and raw vegetables from their own garden in 52.1%. The seroprevalences for neutralizing antibodies against poliovirus type 1, type 2 and type 3 were 86.7%, 89.9%, and 86.7%, respectively. All travelers presented protective antibody titers against at least one of the three viral types. Protective antibody titers were unrelated to travel history or dietary habit., Conclusions: A high proportion of the previously unvaccinated adults in our sample presented protective immunity to polioviruses. This observation may have implications for cost-effectiveness analysis of generalized polio vaccination in adult Italian travelers.

The traditional combination of wines and dishes is highly complex, elaborated and refined. The aim of this study was to investigate the possible relationship between the chemical composition of wines and dishes that determines their combination. We determined the content of total polyphenols in 56 wines. The content of total proteins, total lipids, kilocalories, sodium, potassium, calcium, copper and zinc were determined in 44 raw foods and 44 dishes. Nine gourmets independently chose three wines for each food. We correlated the content of the chemical constituents of foods with the phenol content of wines combined with each food by the gourmets. A significant positive correlation was obtained between the phenol content of wines and iron (r = 0.81, p < 0.0001) and total protein content (r = 0.66, p < 0.0001) of foods. Nine gourmets composing a second panel chose three wines for each dish. A significant positive correlation was also obtained between the phenol content of wines and iron (r = 0.69, p < 0.0001), total protein (r = 0.50, p < 0.0006) and potassium (r = 0.45, p < 0.002) in dishes combined with wines by the second panel of gourmets. Plant phenols decrease the intestinal absorption of iron and have antioxidant activity in the intestinal tract and elsewhere in the body. These positive effects compensate the negative antinutritional activity toward protein digestion. The traditional combination of wines and dishes appears to be very favorable since wines poor in phenols are combined with dishes poor in iron and/or proteins to minimize their possible antinutritional effects, while phenol-rich wines are combined with dishes rich in iron to decrease iron absorption and prandial peroxidative stress.

The authors describe their experience of anastomotic aneurysm diagnosis and treatment. They are classed into two groups: slowly growing anastomotic aneurysms, which are the most common; and rapidly growing anastomotic aneurysms, which are more infrequent. A follow-up is proposed in order to detect this involvement early, in election. Urgent diagnostic timing is also proposed. Moreover an analysis is made of criteria to follow in their therapy and indications to surgical treatment. In the period from January 1988 to October 1992 we observed 413 patients and 876 anastomosis or arterial sutures in election, discovering 27 anastomotic aneurysms whereas in 6 cases we had patients who were affected with rapidly growing anastomotic aneurysms. These were urgently operated, whereas of the 27 patients with slowly growing anastomotic aneurysms, 22 were operated and in 5 cases we preferred to check them by a close follow-up.