New 3D cone beam CT imaging parameters to assist the dentist in treating patients with Osteogenesis Imperfecta

(1) Background: The aim of the work is to identify some imaging parameters in osteogenesis imperfecta to assist the dentist in the diagnosis, planning, and orthodontic treatment of Osteogenesis Imperfecta (OI) using 3D cone beam Computed Tomography (CBCT) and the Double Energy X-ray Absorptiometry (DEXA) technique. (2) Methods: 14 patients (9 males and 5 females; aged mean ± SD 15 ± 1.5) with a clinical-radiological diagnosis of OI were analyzed and divided into mild and moderate to severe forms. The patients’ samples were compared with a control group of 14 patients (8 males and 6 females; aged mean ± SD 15 ± 1.7), free from osteoporotic pathologies. (3) Results: The statistical analysis allowed us to collect four datasets: in the first dataset (C1 sick population vs. C1 healthy population), the t-test showed a p-value < 0.0001; in the second dataset (C2 sick population vs. C2 healthy population), the t-test showed a p-value < 0.0001; in the third dataset (parameter X of the sick population vs. parameter X of the healthy population), the t-test showed a p-value < 0.0001; in the fourth dataset the bone mineralometry (BMD) value detected by the DEXA technique compared to the C2 value of the OI affected population only) the Welch–Satterthwaite test showed a p-value < 0.0001. (4) Conclusions: The research has produced specific imaging parameters that assist the dentist in making diagnostic decisions in OI patients. This study shows that patients with OI have a characteristic chin-bearing symphysis, thinned, and narrowed towards the center, configuring it with a constant “hourglass” appearance, not reported so far in the literature by any author

Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes. To increase OI disease knowledge and contribute to patient follow-up management, a homogeneous Italian cohort of 364 subjects affected by OI types I-IV was evaluated. The study population was composed of 262 OI type I, 24 type II, 39 type III, and 39 type IV patients. Three hundred and nine subjects had a type I collagen affecting function mutations (230 in α1(I) and 79 in α2(I)); no disease-causing changes were noticed in 55 patients. Compared with previous genotype-phenotype OI correlation studies, additional observations arose: a new effect for α1- and α2-serine substitutions has been pointed out and heart defects, never considered before, resulted associated to quantitative mutations (P = 0.043). Moreover, some different findings emerged if compared with previous literature; especially, focusing the attention on the lethal form, no association with specific collagen regions was found and most of variants localized in the previously reported "lethal clusters" were causative of OI types I-IV. Some discrepancies have been highlighted also considering the "50-55 nucleotides rule," as well as the relationship between specific collagen I mutated region and the presence of dentinogenesis imperfecta and/or blue sclera. Despite difficulties still present in defining clear rules to predict the clinical outcome in OI patients, this study provides new pieces for completing the puzzle, also thanks to the inclusion of clinical signs never considered before and to the large number of OI Italian patients

The characteristics of adjacent anatomy of mandibular third molar germs: a CBCT pilot study in patients with Osteogenesis Imperfecta

(1) Objectives: The aim of our study was to investigate the anatomical features of lower third molar and its adjacent anatomical connections in type I Osteogenesis Imperfecta (OI) patients through cone beam computed tomography (cbct). (2) Methods: The study was conducted among 25 patients, 13 patients with type I OI and 12 control patients (individuals with no disorders and no treatment); average age was 15.44 ± 2.06, 23 third molar germs for each group. The germs have been compared to the parameters using the Mann-Whitney test. A chi-square test was also used to investigate the correlation between the status case/control and tooth development stage. (3) Results: Mann-Whitney test showed significant differences between cases and controls: diameter of the tooth germ in toto (U = 93.5; p < 0.001), tooth development stage, (U = 145; p < 0.01), roots length (U = 44.5; p < 0.01), cementoenamel junction diameter (U = 157.5; p < 0.05), size of the pulp chamber (U = 95.5; p < 0.05). Type I OI is not associated with the relationship between the germ of mandibular third molar and alveolar canal on axial plane (χ2 = 4.095; p = 0.129), and parasagittal (χ2 = 4.800; p = 0.091). The association between type I OI and relationship with the germ of mandibular third molar and alveolar canal on the coronal plane has been significant (χ2 = 9.778; p < 0.05) as the perforation of the lingual cortical bone in the region of mandibular third molar tooth germ (χ2 = 11.189; p < 0.01). (4) Conclusions: The results confirm the cbct accuracy in the evaluation of bone density in type I OI patients giving also the opportunity to study the tridimensional anatomy of germs and the adjacent anatomical structures in order to avoid any perioperative complications

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Contains fulltext : 97190.pdf (publisher's version ) (Open Access)ABSTRACT: BACKGROUND: Osteogenesis Imperfecta (OI) is a heritable connective tissue disorder mainly caused by mutations in the genes COL1A1 and COL1A2 and is associated with hearing loss in approximately half of the cases. The hearing impairment usually starts between the second and fourth decade of life as a conductive hearing loss, frequently evolving to mixed hearing loss thereafter. A minority of patients develop pure sensorineural hearing loss. The interindividual variability in the audiological characteristics of the hearing loss is unexplained. METHODS: With the purpose of evaluating inter- and intrafamilial variability, hearing was thorougly examined in 184 OI patients (type I: 154; type III: 4; type IV: 26), aged 3-89 years, with a mutation in either COL1A1 or COL1A2 and originating from 89 different families. Due to the adult onset of hearing loss in OI, correlations between the presence and/or characteristics of the hearing loss and the underlying mutation were investigated in a subsample of 114 OI patients from 64 different families who were older than 40 years of age or had developed hearing loss before the age of 40. RESULTS: Hearing loss was diagnosed in 48.4% of the total sample of OI ears with increasing prevalence in the older age groups. The predominant type was a mixed hearing loss (27.5%). A minority presented a pure conductive (8.4%) or pure sensorineural (12.5%) loss. In the subsample of 114 OI subjects, no association was found between the nature of the mutation in COL1A1 or COL1A2 genes and the occurrence, type or severity of hearing loss. Relatives originating from the same family differed in audiological features, which may partially be attributed to their dissimilar age. CONCLUSIONS: Our study confirms that hearing loss in OI shows a strong intrafamilial variability. Additional modifications in other genes are assumed to be responsible for the expression of hearing loss in OI

Development of a tool to optimize economic and environmental feasibility of food waste chains

11 figures, 6 tables.-- Supplementary information available.The Sustainable Development Goal 12.3 focuses on food and its inedible parts that exit the supply chain and thus are lost or wasted. This work addresses the food waste problem by presenting the development of a tool to design business models to reduce the production of food waste. This has been developed within the LIFE16 project iRexfo, coordinated by the University of Perugia. The tool aims at transferring the results obtained in a pilot region (Umbria, Italy) to 4 other regions in Europe. It has been coded in Python and has a graphical user interface (GUI) to insert inputs and display outputs. The GUI has been developed in FLASK and it is hosted in the website of PythonAnywhere. A case study on the application of the software is also presented, mainly based on data retrieved in the Umbria region, Italy. Together with economic analysis, also, environmental assessment is performed.Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. i-REXFO LIFE (LIFE16ENV/IT/000547) is a project funded by the EU under the LIFE 2016 program. This work has been partially funded by the GTCLC-NEG project that has received funding from the European Union’s Horizon 2020 research and innovation program under the Marie Sklodowska-Curie grant agreement No. 101018756.Peer reviewe

Basis for enhanced barrier function of pigmented skin

Humans with darkly-pigmented skin display superior permeability barrier function in comparison to humans with lightly-pigmented skin. The reduced pH of the stratum corneum (SC) of darkly-pigmented skin could account for enhanced function, because acidifying lightly-pigmented human SC resets barrier function to darkly-pigmented levels. In SKH1 (non-pigmented) vs. SKH2/J (pigmented) hairless mice, we evaluated how a pigment-dependent reduction in pH could influence epidermal barrier function. Permeability barrier homeostasis is enhanced in SKH2/J vs. SKH1 mice, correlating with a reduced pH in the lower SC that co-localizes with the extrusion of melanin granules. Darkly-pigmented human epidermis also shows substantial melanin extrusion in the outer epidermis. Both acute barrier disruption and topical basic pH challenges accelerate re-acidification of SKH2/J (but not SKH1) SC, while inducing melanin extrusion. SKH2/J mice also display enhanced expression of the SC acidifying enzyme, secretory phospholipase A2f (sPLA2f). Enhanced barrier function of SKH2/J mice could be attributed to enhanced activity of two acidic pH-dependent, ceramide-generating enzymes, β-glucocerebrosidase and acidic sphingomyelinase, leading to accelerated maturation of SC lamellar bilayers. Finally, organotypic cultures of darkly-pigmented-bearing human keratinocytes display enhanced barrier function in comparison to lightly-pigmented cultures. Together, these results suggest that the superior barrier function of pigmented epidermis can be largely attributed to the pH-lowering impact of melanin persistence/extrusion and enhanced sPLA2f expression

Notulae to the Italian flora of algae, bryophytes, fungi and lichens: 14

In this contribution, new data concerning bryophytes, fungi and lichens of the Italian flora are presented. It includes new records and confirmations for the algal genus Chara, for the bryophyte genera Bryum, Grimmia, Cephaloziella, Hypnum, Nogopterium, Physcomitrium, Polytrichastrum, Rhynchostegiella, Saelania, and Schistostega, the fungal genera Cortinarius, Lentinellus, Omphalina, and Xerophorus, and the lichen genera Acarospora, Agonimia, Candelariella, Cladonia, Graphis, Gyalolechia, Hypogymnia, Lichinella, Megalaria, Nephroma, Ochrolechia, Opegrapha, Peltigera, Placidium, Ramalina, Rhizoplaca, Ropalospora, Strangospora, Toniniopsis, Usnea, and Zahlbrucknerell

Architecture and performance of the KM3NeT front-end firmware

The KM3NeT infrastructure consists of two deep-sea neutrino telescopes being deployed in the Mediterranean Sea. The telescopes will detect extraterrestrial and atmospheric neutrinos by means of the incident photons induced by the passage of relativistic charged particles through the seawater as a consequence of a neutrino interaction. The telescopes are configured in a three-dimensional grid of digital optical modules, each hosting 31 photomultipliers. The photomultiplier signals produced by the incident Cherenkov photons are converted into digital information consisting of the integrated pulse duration and the time at which it surpasses a chosen threshold. The digitization is done by means of time to digital converters (TDCs) embedded in the field programmable gate array of the central logic board. Subsequently, a state machine formats the acquired data for its transmission to shore. We present the architecture and performance of the front-end firmware consisting of the TDCs and the state machine