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A new genus of the tribe Ephippigerini, Dinarippiger Skejo, Kasalo, Fontana et Tvrtković gen. nov., is described based on the characters of occiput coloration, tegmina coloration, cerci and pronotum shape. The new genus is morphologically intermediate between the genera Ephippiger Berthold, 1827 and Uromenus Bolívar, 1878, and presently includes only Dalmatian Saddle Bush Cricket, Dinarippiger discoidalis (Fieber, 1853) comb. nov., hitherto known as Ephippiger discoidalis Fieber, 1853. The species inhabits NE Italy (mainly Carso Triestino), SW Slovenia, Croatia, Bosnia & Herzegovina, and Montenegro, i.e., islands and karst habitats along the eastern Adriatic coast, with isolated findings in Albania and Italy. Its prominent variation in size and coloration has already produced many synonyms (= limbata Fischer, 1853, = limbata var. major Krauss, 1879, = limbata var. minor Krauss, 1879, = selenophora Fieber, 1853, = sphacophila Krauss, 1879), which may suggest that what is currently regarded as a single species could represent a complex of distinct species with restricted distributions. This study also presents an annotated distribution map and a bioacoustic analysis of D. discoidalis comb. nov. Further research, especially adopting molecular methods, is necessary to assess possible cryptic diversity within the genus Dinarippiger gen. nov. and elucidate its evolutionary history.

Genomic heterozygosity, self-incompatibility, and rich-in somatic mutations hinder the molecular breeding efficiency of outcrossing plants.We attempted to develop an efficient integrated strategy to identify quantitative trait loci (QTLs) and trait-associated genes, to develop gene markers, and to construct genomics-assisted prediction (GAP) modes.A novel protocol, bulked segregant analysis tool for out-crossing species (BSATOS), is presented here, which is characterized by taking full advantage of all segregation patterns (including AB × AB markers) and haplotype information. To verify the effectiveness of the protocol in dealing with the complex traits of outbreeding species, three apple cross populations with 9,654 individuals were adopted.By using BSATOS, 90, 60, and 77 significant QTLs were identified successfully and candidate genes were predicted for apple fruit weight (FW), fruit ripening date (FRD), and fruit soluble solid content (SSC), respectively. The gene-based markers were developed and genotyped for 1,396 individuals in a training population, including 145 Malus accessions and 1,251 F1 plants of the three full-sib families. GAP models were trained using marker genotype effect estimates of the training population. The prediction accuracy was 0.7658, 0.6455, and 0.3758 for FW, FRD, and SSC, respectively.The BSATOS and GAP models provided a convenient and efficient methodology for candidate gene mining and molecular breeding in out-crossing plant species. The BSATOS pipeline can be freely downloaded from: https://github.com/maypoleflyn/BSATOS.

The genus Roeseliana presently includes 10 specific or subspecific taxa, but following different authors some of them are considered synonyms. However, the authors who have treated these taxa often did not agree with the synonymies, in particular, concerning some taxa, such as R. fedtschenkoi (Saussure, 1874) and R. roeselii (Hagenbach, 1822). The present authors examined hundreds of specimens of different taxa, for the first time were able to obtain the translation from the Russian of the description of R. fedtschenkoi, compared the main morphological characters used to discriminate different taxa, biometrics, bioacoustics and genetics of some taxa. This allowed them to conclude that it is possible to recognize the following taxa: 1) Roeseliana roeselii (Hagenbach, 1822) widespread in the Palaearctic Region and imported in North America; 2) Roeseliana fedtschenkoi (Saussure, 1874) in Uzbekistan and Turkmenistan; 3) Roeseliana pylnovi (Uvarov, 1924) in the Caucasian region; 4) Roeseliana bispina (Bolívar, 1899) in Turkey; 5) Roeseliana azami (Finot, 1892) from the Mediterranean France through Italian peninsula (formerly R. azami minor Nadig, 1961); 6) R. ambitiosa (Uvarov, 1924) on the Balkan peninsula; 7) Roeseliana n. sp. Lemonnier-Darcemont & Darcemont, (in press) on Epirus (Greece and Albania); 8) Roeseliana brunneri Ramme 1951 in north east Italy (Veneto, Friuli and Po Valley); 9) Roeseliana oporina (Bolívar, 1887) in Spain.

Gli Embioptera sono tra gli ordini di insetti meno studiato e quindi meno conosciuto in Italia. Al fine di stimolare e facilitare nuove ricerche su questi singolari insetti, vengono presentate le generalità sulla loro biologia, le tecniche di raccolta, allevamento e studio e le attuali conoscenze sulla loro presenza in Italia e in Europa. Viene presentata anche una chiave per l’identificazione dei generi e una bibliografia essenziale.

Contains fulltext : 290808.pdf (Publisher’s version ) (Open Access) PURPOSE: Pathogenic variants in genes involved in the epigenetic machinery are an emerging cause of neurodevelopment disorders (NDDs). Lysine-demethylase 2B (KDM2B) encodes an epigenetic regulator and mouse models suggest an important role during development. We set out to determine whether KDM2B variants are associated with NDD. METHODS: Through international collaborations, we collected data on individuals with heterozygous KDM2B variants. We applied methylation arrays on peripheral blood DNA samples to determine a KDM2B associated epigenetic signature. RESULTS: We recruited a total of 27 individuals with heterozygous variants in KDM2B. We present evidence, including a shared epigenetic signature, to support a pathogenic classification of 15 KDM2B variants and identify the CxxC domain as a mutational hotspot. Both loss-of-function and CxxC-domain missense variants present with a specific subepisignature. Moreover, the KDM2B episignature was identified in the context of a dual molecular diagnosis in multiple individuals. Our efforts resulted in a cohort of 21 individuals with heterozygous (likely) pathogenic variants. Individuals in this cohort present with developmental delay and/or intellectual disability; autism; attention deficit disorder/attention deficit hyperactivity disorder; congenital organ anomalies mainly of the heart, eyes, and urogenital system; and subtle facial dysmorphism. CONCLUSION: Pathogenic heterozygous variants in KDM2B are associated with NDD and a specific epigenetic signature detectable in peripheral blood. 01 januari 2023

BACKGROUND: This observational study evaluates retrospectively the long-term outcomes after pleurectomy/decortication for pleural mesothelioma, with and without the resection/reconstruction of diaphragm and pericardium. METHODS: Data from 155 consecutive patients undergoing lung-sparing surgery for epithelial pleural mesothelioma were reviewed. Selection criteria for surgery were cT1-3, cN0-1, good performance status, age 12 months was strongly related to the overall survival (P12 months is predictive of an increased survival when the macroscopic complete resection is achieved.

Heterozygous, pathogenic CUX1 variants are associated with global developmental delay or intellectual disability. This study delineates the clinical presentation in an extended cohort and investigates the molecular mechanism underlying the disorder in a Cux1+/− mouse model. Through international collaboration, we assembled the phenotypic and molecular information for 34 individuals (23 unpublished cases). A Cux1+/− mouse model was used to analyze CUX1 expression in the brain and evaluate susceptibility to epilepsy. We describe 34 patients with 26 different null and four missense variants. The leading symptoms were mild to moderate delayed speech and motor development, and intellectual disability. In Cux1+/− mice, we found delayed growth, histologically normal brains, and increased susceptibility to seizures. In Cux1+/− brains, the expression of Cux1 transcripts was half of WT animals. Expression of CUX1 proteins was also reduced, although in early postnatal animals significantly more than in adults. In summary, disease-causing CUX1 variants result in a non-syndromic phenotype of developmental delay and intellectual disability. In some patients, this phenotype ameliorates with age, resulting in a clinical catch-up and normal IQ in adulthood. Furthermore, the balance of CUX1 isoform expression in the brain during development appears to be important for this favorable clinical course.

Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability. The syndrome is caused by KMT2D gene mutations or less frequently KDM6A gene mutations or deletions. We report a systematic evaluation of KS patients from Campania region of Italy; data were also compared with literature ones. We collected data of 15 subjects (8 males and 7 females with age range 10–26 years; mean age 16.9 years) with confirmed diagnosis of KS, representing the entire cohort of patients from Campania Region. Each patient performed biochemical testing and instrumental investigation. Neuro-intellectual development, cranio-facial dysmorphisms, and multisystem involvement data were collected retrospectively. For each category, type of defects and frequency of the anomalies were analyzed. Our observation shows that KS patients from Campania region have some particular and previously underscored, neurological and immunological findings. We found high prevalence of EEG’s abnormalities (43%) and MRI brain abnormalities (60%). Microcephaly resulted more common in our series (33%), if compared with major cohorts described in literature. Biochemical features of immunodeficiency and autoimmune diseases including thyroid autoimmunity, polyserositis, and vitiligo were observed with high prevalence (54.5%). Low immunoglobulins levels were a frequent finding. Lymphocyte class investigation showed significantly reduced CD8 levels in one patient.Conclusions: These data confirm great heterogeneity of clinical manifestations in KS and suggest to introduce further clinical diagnostic criteria in order to perform a correct and precocious diagnosis. What is Known• Kabuki syndrome is characterized by growth deficiency, dysmorphic facial features, skeletal anomalies, and intellectual disability• Immune dysfunction is a common finding but autoimmune diseases are rarely seen• Neurological features are common What is New• Some particular facial features could help gestalt diagnosis (hypertelorism, broad nasal bridge, micrognathia, tooth agenesis, cutaneous haemangiomas and strabismus)• Higher prevalence of autoimmune disorders than previously reported• Particular neurological features are present in this cohort (EEG and MRI brain abnormalities)

Since it is not possible, after several years of research, to locate the type material of Chelidura aptera (Megerle in Charpentier, 1825), type species of the genus Chelidura latreille, 1825, and not being able to define in any way, even vaguely, the terra typica, it was decided to fix a neotype. This neotype is here selected on the basis of its matching with the original description and with the support of molecular data. Three Alpine populations, two Italian and one Swiss, of what is actually considered C. aptera were sampled and sequenced; COI sequences were then compared with Chelidura pyrenaica arverna David & Van Herrewege, 1973 from the Massif Central in France, and other species of the genera Chelidurella, Mesochelidura and Forficula. The separation between C. aptera and C. pyrenaica is strongly supported by DNA barcodes and substantial differences among the three Alpine populations have been detected. The genetically intermediate among the Alpine populations (Italy, Piedmont (Biella), Pennine Alps, lago del Mucrone) is chosen as neotype of Chelidura aptera, furthermore largely matching the original description. Further genetic and morphological investigations will clarify the relations among the Alpine populations and in the early future we expect to extend the analyzes to the majority of the Alpine and non-Alpine populations of Chelidura. In addition, the updated view about the taxonomy and distribution of Chelidura and the first illustration of male genitalia of Chelidura pyrenaica arverna David & Van Herrewege, 1973 are provided.

The Dermaptera species number reported for the Italian fauna (27 species) is the most conspicuous among the European Union. The knowledge on Italian Dermaptera is among the most accurate in Europe, above all thanks to the large number of well-known entomologists who, over two centuries, have dedicated themselves to it in depth. Half of the species of Dermaptera known for Italy have indeed been described by Italian entomologists. Four species are alien and some of which have long been acclimatized in Italy. Among these, Forficula smyrnensis Audinet- Serville, 1838, is reported here for the first time from Italy, found in the Marche, Veneto and Emilia Romagna Regions in 2011, 2018 and 2020 respectively. The last record could suggest an acclimatization of this species in Italy. The knowledge of Italian Dermaptera was already very wide and accurate in 1994 when the 36th issue of the Checklist of the Italian fauna was published and even more so after the revision of 2005. The recent revision of the genus Chelidurella Verhoeff, 1902 on a molecular basis has substantially confirmed the great complexity for this genus in Italy and the ongoing research on the genus Chelidura Latreille, 1825 in the central-western Alps could unveil a similar complexity.

Purpose We conducted a phase 3 randomized clinical trial to assess whether radical hemithoracic radiation therapy (RHR) compared with palliative radiation therapy (PR) can achieve overall survival (OS) advantages in patients with malignant pleural mesothelioma (MPM). Methods and Materials From August 2014 to May 2018, patients with histologically diagnosed nonmetastatic MPM, who underwent nonradical lung-sparing surgery and chemotherapy (CHT), were randomly assigned (1:1) to receive RHR or PR. RHR total dose to the involved pleural cavity was 50 Gy in 25 fractions, and the gross residual disease received a simultaneous integrated boost of 60 Gy. The primary endpoint was OS. Secondary endpoints were local control, distant metastasis-free survival, progression-free survival, and acute and late toxicity rates. A sample size of 108 patients considering a type I error (α) of 0.05 and a statistical power of 80% was calculated to prove that RHR could improve the 2-year OS. OS was estimated with the Kaplan-Meier method and the log-rank test (2-sided) tested differences between arms. The univariate and multivariate analyses were performed using Cox proportional hazard model. Possible prognostic factors investigated: age, sex, performance status, lung surgery, gross residual disease, and histology. Results One hundred eight patients were randomized: 53 to the PR arm and 55 to the RHR arm. Median follow-up was 14.6 months. The 2-year OS rate was 58% in the RHR arm versus 28% in the PR arm (hazard ratio, 0.54; 95% confidence interval, 0.31-0.95; P = .031). In the RHR arm: 11 patients experienced acute toxicity grade ≥3, 17 patients had grade 3 to 4 late toxicity. Nine patients experience a grade ≥2 pneumonitis, including 1 patient with grade 5. Conclusions RHR significantly improves survival in patients with MPM treated with nonradical lung-sparing surgery and CHT compared with palliative treatments, although it is associated with a nonnegligible toxicity profile.

Feingold Syndrome type 1 (FS1) is an autosomal dominant disorder due to a loss of function mutations in the MYCN gene. FS1 is generally clinically characterized by mild learning disability, microcephaly, short palpebral fissures, short stature, brachymesophalangy, hypoplastic thumbs, as well as syndactyly of toes, variably associated with organ abnormalities, the most common being gastrointestinal atresia. In current literature, more than 120 FS1 patients have been described, but diagnostic criteria are not well agreed upon, likewise the genotype-phenotype correlations are not well understood. Here, we describe 11 FS1 patients, belonging to six distinct families, where we have identified three novel MYCN mutations along with three pathogenetic variants, the latter which have already been reported. Several patients presented a mild phenotype of the condition and they have been diagnosed as being affected only after segregation analyses of the MYCN mutation identified in the propositus. We also describe here the first ever FS1 patient with severe intellectual disability having a maternally inherited MYCN variant together with an additional GNAO1 mutation inherited paternally. Mutations in the GNAO1 gene are associated with a specific form of intellectual disability and epilepsy, thus the finding of two different rare diseases in the same patient could explain his severe phenotype. Therein, a thorough investigation is merited into the possibility that additional variants in patients with a MYCN mutation and severe phenotype do exist. Finally, in order to guarantee a more reliable diagnosis of FS1, we suggest using both major and minor clinical-molecular diagnostic criteria.

The poet Virgil is linked to honey bees both for his biography and for his literary works. Some verses of Virgil’s main works, the Bucolics, the Georgics and the Aeneid, are analyzed and interpreted, demonstrating a clear familiarity of the poet with these insects. In the Bucolics, honey bees play a symbolic role as well as in the Aeneid, where however their role is anything but marginal. As for the fourth book of the Georgics, what Virgil writes on the phenomena inherent to swarming is reinterpreted in a bio-ethological key, demonstrating how he had the opportunity to directly observe some phenomena of the life of the beehive still today poorly investigated from a scientific point of view. The poet Virgil can therefore be considered an ethologist ante litteram. A comparison is then made between some images on honey bees present in Virgil literary works and what, in relation to these insects, is found in Dante Alighieri’s Divine Comedy.

Clinical and molecular spectrum of Wiedemann-Steiner syndrome, an emerging member of the chromatinopathy family

The ectoparasitic mite Varroa destructor is a serious threat to European honey bees. Traditionally, Varroa mites has been controlled with synthetic pesticides, but residues in honey bee products an...

Breast cancer is the most frequent tumor and the leading cause of cancer deaths in women. In recent years, lactate metabolism and, in particular, its receptor GPR81 have been shown to play a vital role in cancer biology. GPR81 is upregulated in breast cancer and promotes tumor growth by tumor cell-derived lactate. Therefore, the search for possible crosstalk and the involvement of new molecules capable of generating this pathology is always in continuous development. In this study, the relationship between GPR81 and IGFBP6 protein in tumor growth and oxidative stress in the human breast cancer cell line MDA-MB-231 was studied. Cells were treated with lactate or the GPR81 receptor agonist and antagonist 3,5-DHBA and 3-OBA, respectively. In addition, oxidative stress and proliferation were also evaluated in cells challenged with the recombinant IGFBP6 protein. Our data showed that lactate induced cell proliferation and wound healing of the MDA-231 breast cancer cell through the overexpression of both the lactate receptor GPR81 and IGFBP6. The increase in IGFBP6 was able, in turn, to improve the mitochondrial fitness and redox state, as suggested by the reduced levels of mitochondrial ROS production after IGFBP6 treatment, presumably mediated by the increase in the ROS detoxifying genes HMOX1, GSTK1 and NQO1. In conclusion, our data highlight a novel axis between GPR81 and IGFBP6 in MDA-231 cells able to modulate lactate metabolism and oxidative stress. This complex signaling may represent a new therapeutic target for breast cancer.

On February 2020, the municipality of Vo’, a small town near Padua (Italy), was quarantined due to the first coronavirus disease 19 (COVID-19)-related death detected in Italy. The entire population was swab tested in two sequential surveys. Here we report the analysis of the viral genomes, which revealed that the unique ancestor haplotype introduced in Vo’ belongs to lineage B and, more specifically, to the subtype found at the end of January 2020 in two Chinese tourists visiting Rome and other Italian cities, carrying mutations G11083T and G26144T. The sequences, obtained for 87 samples, allowed us to investigate viral evolution while being transmitted within and across households and the effectiveness of the non-pharmaceutical interventions implemented in Vo’. We report, for the first time, evidence that novel viral haplotypes can naturally arise intra-host within an interval as short as two weeks, in approximately 30% of the infected individuals, regardless of symptoms severity or immune system deficiencies. Moreover, both phylogenetic and minimum spanning network analyses converge on the hypothesis that the viral sequences evolved from a unique common ancestor haplotype, carried by an index case. The lockdown extinguished both viral spread and the emergence of new variants, confirming the efficiency of this containment strategy. The information gathered from household was used to reconstructs possible transmission events.AUTHOR SUMMARYIt is of great interest and importance to understand SARS-CoV-2 ability to mutate generating new viral strains, and to assess the impact of containment strategies on viral transmission. In this study we highlight the rapid intra-host haplotype evolution regardless of symptom severity and immune deficiencies that we observed during the first wave of the pandemic in the municipality of Vo’ in Italy. The confirmation that all the haplotypes found in this small community derive from a common ancestor haplotype, has allowed us to track the rapid emergence of new variants but lockdown and mass testing efficiently prevented their spread elsewhere.

Background: Trentino is an Italian province with a tourism-based economy, bordering the regions of Lombardy and Veneto, where the two earliest and largest outbreaks of COVID-19 occurred in Italy. The earliest cases in Trentino were reported in the first week of March 2020, with most of the cases occurring in the winter sport areas in the Dolomites mountain range. The number of reported cases decreased over the summer months and was followed by a second wave in the autumn and winter of 2020. Methods: we performed high-coverage Oxford Nanopore sequencing of 253 positive SARS-CoV-2 swabs collected in Trentino between March and December 2020. Results: in this work, we analyzed genome sequences to trace the routes through which the virus entered the area, and assessed whether the autumnal resurgence could be attributed to lineages persisting undetected during summer, or as a consequence of new introductions. Conclusions: Comparing the draft genomes analyzed with a large selection of European sequences retrieved from GISAID we found that multiple introductions of the virus occurred at the early stage of the epidemics; the two epidemic waves were unrelated; the second wave was due to reintroductions of the virus in summer when traveling restrictions were uplifted.

Primary myelofibrosis is a Ph-negative chronic myeloproliferative neoplasm characterized by bone marrow fibrosis and associated with the involvement of several pathways, in addition to bone marrow microenvironment alterations, mostly driven by the activation of the cytokine receptor/JAK2 pathway. Identification of driver mutations has led to the development of targeted therapy for myelofibrosis, contributing to reducing inflammation, although this currently does not translate into bone marrow fibrosis remission. Therefore, understanding the clear molecular cut underlying this pathology is now necessary to improve the clinical outcome of patients. The present study aims to investigate the involvement of IGFBP-6/sonic hedgehog /Toll-like receptor 4 axis in the microenvironment alterations of primary myelofibrosis. We observed a significant increase in IGFBP-6 expression levels in primary myelofibrosis patients, coupled with a reduction to near-normal levels in primary myelofibrosis patients with JAK2V617F mutation. We also found that both IGFBP-6 and purmorphamine, a SHH activator, were able to induce mesenchymal stromal cells differentiation with an up-regulation of cancer-associated fibroblasts markers. Furthermore, TLR4 signaling was also activated after IGFBP-6 and purmorphamine exposure and reverted by cyclopamine exposure, an inhibitor of the SHH pathway, confirming that SHH is involved in TLR4 activation and microenvironment alterations. In conclusion, our results suggest that the IGFBP-6/SHH/TLR4 axis is implicated in alterations of the primary myelofibrosis microenvironment and that IGFBP-6 may play a central role in activating SHH pathway during the fibrotic process.

Insect outbreaks usually involve important ecological and economic consequences for agriculture and forestry. The short-winged bush-cricketBarbitistes vicetinusGalvagni & Fontana, 1993 is a recently described species that was considered rare until ten years ago, when unexpected population outbreaks causing severe defoliations across forests and crops were observed in north-eastern Italy. A genetic approach was used to analyse the origin of outbreak populations. The analysis of two mitochondrial regions (Cytochrome Oxidase I and II and 12S rRNA-Control Region) of 130 samples from the two disjunct ranges (Euganean and Berici Hills) showed high values of haplotype diversity and revealed a high geographical structure among populations of the two ranges. The high genetic variability observed supports the native origin of this species. In addition, results suggest that unexpected outbreaks are not a consequence of a single or few pestiferous haplotypes but rather the source of outbreaks are local populations which have experienced an increase in each area. The recent outbreaks have probably appeared independently of the genetic haplotypes whereas environmental conditions could have affected the outbreak populations. These findings contribute to a growing understanding of the status and evolutionary history of the pest that would be useful for developing and implementing biological control strategies for example by maximizing efforts to locate native natural enemies.

The ripening of climacteric fruits, such as apple, is represented by a series of genetically programmed events orchestrated by the action of several hormones. In this study, we investigated the existence of a hormonal crosstalk between ethylene and auxin during the post-harvest ripening of three internationally known apple cultivars: 'Golden Delicious', 'Granny Smith' and 'Fuji'. The normal climacteric ripening was impaired by the exogenous application of 1-methylcyclopropene (1-MCP) that affected the production of ethylene and the physiological behaviour of specific ethylene-related quality traits, such as fruit texture and the production of volatile organic compounds. The application of 1-MCP induced, moreover, a de-novo accumulation of auxin. The RNA-Seq wide-transcriptome analysis evidenced as the competition at the level of the ethylene receptors induced a cultivar-dependent transcriptional re-programming. The DEGs annotation carried out through the KEGG database identified as most genes were assigned to the plant hormone signaling transduction category, and specifically related to auxin and ethylene. The interplay between these two hormones was further assessed through a candidate gene analysis that highlighted a specific activation of GH3 and ILL genes, encoding key steps in the process of the auxin homeostasis mechanism. Our results showed that a compromised ethylene metabolism at the onset of the climacteric ripening in apple can stimulate, in a cultivar-dependent fashion, an initial de-novo synthesis and de-conjugation of auxin as a tentative to restore a normal ripening progression.

The occurrence of Embioptera in the Strait of Sicily islands was up to date known only from Lam pione (the smallest of the Pelagie islands), where the only species reported was provisionally assigned to Embia ramburi Rimski-Korsakow, 1905. Based on material recently collected by the authors, the presence of Embioptera is here reported for the first time in the Islands of Pantelleria (Sicily, Trapani) and Lampedusa (Sicily, Agrigento). In the Island of Pantelleria the occurrence of the typical small silky tunnels produced by Embioptera has been verified in many sites, from sea level to Montagna Grande (836 m). In many of these sites, several juveniles and some adult or subadult specimens were collected and reared, obtaining an adult male belonging to Cleomia guareschii Stefani, 1953. More over, a single adult male of E. ramburi was collected in Lampedusa, the largest of the Pelagian Islands. Finally, the fauna of Embioptera from Lampione remains still poorly known, as it was possible to examine only two females recently collected in the island, and identified as Embia sp.