A dynamic viticultural zoning to explore the resilience of terroir concept under climate change.

Climate change (CC) directly influences agricultural sectors, presenting the need to identify both adaptation and mitigation actions that can make local farming communities and crop production more resilient. In this context, the viticultural sector is one of those most challenged by CC due to the need to combine grape quality, grapevine cultivar adaptation and therefore farmers' future incomes. Thus, understanding how suitability for viticulture is changing under CC is of primary interest in the development of adaptation strategies in traditional wine-growing regions. Considering that climate is an essential part of the terroir system, the expected variability in climate change could have a marked influence on terroir resilience with important effects on local farming communities in viticultural regions. From this perspective, the aim of this paper is to define a new dynamic viticultural zoning procedure that is able to integrate the effects of CC on grape quality responses and evaluate terroir resilience, providing a support tool for stakeholders involved in viticultural planning (winegrowers, winegrower consortiums, policy makers etc.). To achieve these aims, a Hybrid Land Evaluation System, combining qualitative (standard Land Evaluation) and quantitative (simulation model) approaches, was applied within a traditional region devoted to high quality wine production in Southern Italy (Valle Telesina, BN), for a specific grapevine cultivar (Aglianico). The work employed high resolution climate projections that were derived under two different IPCC scenarios, namely RCP 4.5 and RCP 8.5. The results obtained indicate that: (i) only 2% of the suitable area of Valle Telesina expresses the concept of terroir resilience orientated towards Aglianico ultra quality grape production; (ii) within 2010-2040, it is expected that 41% of the area suitable for Aglianico cultivation will need irrigation to achieve quality grape production; (iii) by 2100, climate change benefits for the cultivation of Aglianico will decrease, as well as the suitable areas.

Supporting local farming communities and crop production resilience to climate change through giant reed (Arundo donax L.) cultivation: An Italian case study.

Bioenergy crops are well known for their ability to reduce greenhouse gas emissions and increase the soil carbon stock. Although such crops are often held to be in competition with food crops and thus raise the question of current and future food security, at the same time mitigation measures are required to tackle climate change and sustain local farming communities and crop production. However, in some cases the actions envisaged for specific pedo-climatic conditions are not always economically sustainable by farmers. In this frame, energy crops with high environmental adaptability and yields, such as giant reed (Arundo donax L.), may represent an opportunity to improve farm incomes, making marginal areas not suitable for food production once again productive. In so doing, three of the 17 Sustainable Development Goals (SDGs) of the United Nations would be met, namely SDG 2 on food security and sustainable agriculture, SDG 7 on reliable, sustainable and modern energy, and SDG 13 on action to combat climate change and its impacts. In this work, the response of giant reed in the marginal areas of an agricultural district of southern Italy (Destra Sele) and expected farm incomes under climate change (2021-2050) are evaluated. The normalized water productivity index of giant reed was determined (WP; 30.1gm-2) by means of a SWAP agro-hydrological model, calibrated and validated on two years of a long-term field experiment. The model was used to estimate giant reed response (biomass yield) in marginal areas under climate change, and economic evaluation was performed to determine expected farm incomes (woodchips and chopped forage). The results show that woodchip production represents the most profitable option for farmers, yielding a gross margin 50% lower than ordinary high-input maize cultivation across the study area.

Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma.

We report the identification of a novel mutation in the fork-head box C1 (FOXC1) gene which occurred de novo in an Italian patient with unrecognized Axenfeld-Rieger syndrome. He was previously diagnosed as having late recognized primary congenital glaucoma at the age of 14 years and was subsequently subjected to multiple surgical interventions due to uncontrolled intraocular pressure and progressive visual field loss. After exclusion of mutations in CYP1B1 and MYOC, trio-whole-exome sequencing revealed de novo in frame deletion in the coding region of the FOXC1 gene (c.407_409delGTC, p.V137del) leading to a deletion of the evolutionary conserved amino acid Valine at position 137 of the protein. Molecular modeling predicted that Val137 deletion impairs FOXC1 DNA-binding capacity and transcriptional activation. Since loss-of-function mutations in FOXC1 are associated with Axenfeld-Rieger syndrome, the genetic findings in combination with re-evaluation of the patient's clinical data resulted in a corrected diagnosis of Axenfeld-Rieger syndrome with developmental glaucoma. We therefore suggest that in addition to CYP1B1 and MYOC, FOXC1 should be included in the genetic analysis of cases with unclear glaucomatous phenotypes to ensure proper diagnosis, adequate treatment and appropriate genetic counseling.

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional cytogenetics. In all, 27 cases of reciprocal translocations were detected in patients with an abnormal phenotype, and after array CGH analysis, 11 were found to be unbalanced. Thus 40% (11 of 27) of patients with a "chromosomal phenotype" and an apparently balanced translocation were in fact unbalanced, and 18% (5 of 27) of the reciprocal translocations were instead complex rearrangements with >3 breakpoints. Fourteen fetuses with de novo, apparently balanced translocations, all but two with normal ultrasound findings, were also analysed and all were found to be normal using array CGH. Thirteen CCRs were detected in patients with abnormal phenotypes, two in women who had experienced repeated spontaneous abortions and three in fetuses. Sixteen patients were found to have unbalanced mutations, with up to 4 deletions. These results suggest that genome-wide array CGH may be advisable in all carriers of "balanced" CCRs. The parental origin of the deletions was investigated in 5 reciprocal translocations and 11 CCRs; all were found to be paternal. Using customized platforms in seven cases of CCRs, the deletion breakpoints were narrowed down to regions of a few hundred base pairs in length. No susceptibility motifs were associated with the imbalances. These results show that the phenotypic abnormalities of apparently balanced de novo CCRs are mainly due to cryptic deletions and that spermatogenesis is more prone to generate multiple chaotic chromosome imbalances and reciprocal translocations than oogenesis.

Physiopathology of IL-12 in human solid neoplasms: blood levels of IL-12 in early or advanced cancer patients, and their variations with surgery and immunotherapy.

Experimental studies have shown that IL-12 plays an important role in the activation of the anticancer immune defenses. Unfortunately, at present the behavior of IL-12 secretion in human neoplasms remain to be established. In an attempt to draw some preliminary data about IL-12 secretion in human cancer, in the present study we have evaluated serum levels of IL-12 in a group of non-metastatic and metastatic solid tumor patients in relation to the survival time, and their changes in surgically treated cancer patients and in metastatic patients undergoing immunotherapy with IL-2. Mean serum levels of IL-12 were significantly higher metastatic patients (n = 40) than in those with locally limited solid neoplasm (n = 16). Moreover, within the metastatic group, the percent of 1-year survival was significantly higher in patients with abnormally elevated blood concentrations of IL-12 than in those with normal values. In the group of 10 patients surgically treated for gastrointestinal tract tumors, the surgical operation induced a significant decline in IL-12 mean serum levels. Finally, in a group of 23 metastatic renal cell cancer patients treated with IL-12 immunotherapy (6 million IU/day S.C. for 6 days/week for 4 weeks), the treatment was associated with a significant and progressive increase in IL-12 mean values. Moreover, serum mean levels of IL-12 observed in therapy in patients with response or stable disease were significantly higher than those found in progressing patients. This preliminary study seems to suggest that the evidence of high levels of IL-12 may have a favourable prognostic significance in solid tumor patients, either in baseline conditions or in response to IL-2 cancer immunotherapy.

A new case of human Y chromosome with satellites on the long arm.

A Y chromosome with satellites at the end of the long arm is reported. The banding techniques RBG, GTC, C and N were used. C-banding revealed a reduction of the heterochromatic part of the chromosome. The pedigree of the family didn't show any pathological feature in the carriers of this morphological variation. The frequency of satellite association was also studied.

Duchenne muscular dystrophy: data from family studies.

In an extensive epidemiological survey of Duchenne muscular dystrophy carried out in Venetia (Italy) the incidence was found to be 28.2 X 10(-5) and female gamete mutation rate was estimated by the direct method between 61 and 35 X 10(-6). The percentage of isolated cases was 0.54. Indirect and direct estimates of this proportion suggest, however, that only a minor fraction arises from maternal mutation (from 0.11 to 0.18 of the total number of cases). Studies on pedigrees collected in the course of the survey indicate that there is a higher frequency of Duchenne carrier females than normal females in affected sibships. Additional evidence supporting the hypothesis of a reproductive heterozygote advantage and gametic selection is reported.

Partial trisomy 4q: two cases resulting from a familial translocation t(4;18)(q27;p11).

Partial trisomy of the long arm of chromosome 4 was observed in two related patients, a child aged 2 years and a woman aged 42. Cytogenetic investigation revealed that their chromosome anomalies were due to segregation of a familial balanced translocation t(4;18)(q27;p11). Some clinical and cytogenetic considerations are noted.

Partial trisomy 4q: two cases with a familial translocation t(4;18)(q27;q23).

Clinical and cytogenetic data of two related patients, both trisomic for the segment 4q27 to qter, are reported. Familial studies determined that the mothers of the two probands were carriers of the same balanced translocation between chromosomes 4 and 18. Altogether, two partial trisomies 4q, five balanced karyotypes, and one 45,X0 karyotype were found in the family. The 18 cases reported to date are reviewed with respect to the karyotype-phenotype correlation.

Partial trisomy of the long arm of chromosome 1 due to a familial translocation t(1;10) (q32;q26).

A new case of partial trisomy for the long arm of chromosome 1 was observed in a newborn female, who died at age 26 days. The father was a proven carrier of a balanced translocation involving chromosomes 1 and 10.

BUdR as a tracer of the possible mutagenic activity of Pb++ in human lymphocyte cultures.

The method of SCE was used as an indicator of the possible mutagenic activity of lead acetate in in vitro cultures of human lymphocytes. After determining the optimal concentration of BUdR, the cultures were treated with increasing doses of the metal. The negative results obtained with this method led us to examine other parameters, in particular the classical cytogenetic aberrations.

Duchenne muscular dystrophy. A population study.

By a general survey in the hopitals of northeast Italy, Duchenne cases have been located and identified over a 20-year period. In a more restricted area screening for Duchenne carriers has been carried out in affected families. This procedure made possible an exact estimate of the incidence rate, prevalence rate, and mutation rate in a large sample of population. Prevalence rate was found to be 34x10(-6), incidence rate about 28x10(-5), while mutation rate was found lower than 50x10(-6) by the direct method. The discrepancy between the results obtained by the Haldane formula and those obtained by the direct method for the estimate of the mutation rate is discussed.