Population genetic analysis of the endemic Centaurea spp. in Sardinia

Tyrrhenian Islands are one of Mediterranean hotspots. Within the Mediterranean basin the Sardinian-Corsican system shows one of the highest densities of endemic plant species, therefore it is so original in terms of vegetation cover. Limited information is available on the genetic structure of endemic Mediterranean plant species. Several species are known as palaeo-endemics because the island could have played a significant role during the last glacial maximum, and as schizo-endemics because a great number of endemic species could be evolved after the actual separation of Sardinia from the mainland and from Corsica, ended 20,000 years ago. On 347 endemic species 45.8% are exclusive to Sardinia. Among these, five species of the Centaurea genus are present: C. horrida, C. filiformis, C. corensis, C. ferulacea and C. magistrorum. Microendemic vicariants is a term used for groups of endemic plants whose parentage is obvious and which are specially rather than genetically isolated. In these plants, morphological differentiation is usually weak and the groups are not widely separated geographically. Populations have been fragmented into discrete units, and often the morphological differences between taxa, although small, are constant. As some cases of microendemic, presumably schizo-endemic, species are present within the Centaurea genus in western Mediterranean, we would here assess the genetic variability of Sardinian endemic Centaurea species and their taxonomical relationships

Studi demografici e genetici su specie vegetali di interesse per la conservazione in Sardegna

Il Bacino del Mediterraneo è uno degli hotspots di biodiversità a livello globale (Myers et al., 2000), infatti risulta terzo al mondo per l’abbondante presenza di piante endemiche (circa 13.000 specie esclusive che corrispondono al 4,3% di tutte le piante del mondo). All’interno dell’area mediterranea sono state individuate 10 aree cruciali per la conservazione e gestione della biodiversità (Médail, Quézel, 1999), hotspots che rappresentano il 22% (circa 515.000 Km2) della superficie totale dell’area mediterranea, includono circa 5.500 entità endemiche e presentano una ricchezza floristica superiore a 2.000 specie/15.000 Km2 (Médail, Quézel, 1999). In questo ambito il Dipartimento di Botanica ed Ecologia vegetale dell’Università degli Studi di Sassari ha intrapreso studi di tipo demografico e genetico sulla dinamica e vitalità delle popolazioni di entità incluse nell’All. II della Direttiva Habitat o che identificano habitat comunitari ai sensi dell’All. I della stessa Direttiva, finalizzati alla loro conservazione. In questa sede si riportano dati preliminari su Centaurea horrida Badarò (Pisanu, Filigheddu, 2005; Mameli et al., 2006), Anchusa crispa Viv. ed entità congeneriche (Farris et al., 2006) e Taxus baccata L. (Farris, Filigheddu, 2005)

Natural history of non-lethal raine syndrome during childhood

Background: Raine syndrome (RS) is a rare autosomal recessive disorder caused by biallelic loss-of-function mutations of FAM20C. The most common clinical features are microcephaly, exophthalmos, hypoplastic nose and severe midface hypoplasia, leading to choanal atresia. The radiological findings include generalized osteosclerosis and brain calcifications. RS is usually lethal during the neonatal period due to severe respiratory distress. However, there exists a non-lethal RS form, the phenotype of which is extremely heterogeneous. There is paucity of data about clinical course and life expectancy of these patients.Results: This is the first description of follow-up features of non-lethal RS patients. Moreover, we present three unpublished cases. There are five Asian and two Arab patients. All were born to consanguineous parents. The most common neonatal comorbidity was respiratory distress secondary to choanal atresia. A variable degree of neurodevelopmental delay was seen in the majority of our cases and seizures and hearing or vision involvement were also frequent. Neurological and orthopedic issues were the most frequent complications seen at follow-up in our group. Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. Life expectancy of our patients goes beyond childhood, with the oldest of those described being 18 years old at present.Conclusions: Manifestations of RS in those surviving the neonatal period are being increasingly recognized. Our study supports previous findings and provides clinical and biochemical observations and data from longer follow up. Finally, we propose multidisciplinary follow up for patients with non-lethal RS

The Silent Epidemic of Diabetic Ketoacidosis at Diagnosis of Type 1 Diabetes in Children and Adolescents in Italy During the COVID-19 Pandemic in 2020

To compare the frequency of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes in Italy during the COVID-19 pandemic in 2020 with the frequency of DKA during 2017-2019

Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe: A prospective European multicentre observational study

BACKGROUND: Little is known about current clinical practice concerning peri-operative red blood cell transfusion in neonates and small infants. Guidelines suggest transfusions based on haemoglobin thresholds ranging from 8.5 to 12 g dl-1, distinguishing between children from birth to day 7 (week 1), from day 8 to day 14 (week 2) or from day 15 (≥week 3) onwards. OBJECTIVE: To observe peri-operative red blood cell transfusion practice according to guidelines in relation to patient outcome. DESIGN: A multicentre observational study. SETTING: The NEonate-Children sTudy of Anaesthesia pRactice IN Europe (NECTARINE) trial recruited patients up to 60 weeks' postmenstrual age undergoing anaesthesia for surgical or diagnostic procedures from 165 centres in 31 European countries between March 2016 and January 2017. PATIENTS: The data included 5609 patients undergoing 6542 procedures. Inclusion criteria was a peri-operative red blood cell transfusion. MAIN OUTCOME MEASURES: The primary endpoint was the haemoglobin level triggering a transfusion for neonates in week 1, week 2 and week 3. Secondary endpoints were transfusion volumes, 'delta haemoglobin' (preprocedure - transfusion-triggering) and 30-day and 90-day morbidity and mortality. RESULTS: Peri-operative red blood cell transfusions were recorded during 447 procedures (6.9%). The median haemoglobin levels triggering a transfusion were 9.6 [IQR 8.7 to 10.9] g dl-1 for neonates in week 1, 9.6 [7.7 to 10.4] g dl-1 in week 2 and 8.0 [7.3 to 9.0] g dl-1 in week 3. The median transfusion volume was 17.1 [11.1 to 26.4] ml kg-1 with a median delta haemoglobin of 1.8 [0.0 to 3.6] g dl-1. Thirty-day morbidity was 47.8% with an overall mortality of 11.3%. CONCLUSIONS: Results indicate lower transfusion-triggering haemoglobin thresholds in clinical practice than suggested by current guidelines. The high morbidity and mortality of this NECTARINE sub-cohort calls for investigative action and evidence-based guidelines addressing peri-operative red blood cell transfusions strategies. TRIAL REGISTRATION: ClinicalTrials.gov, identifier: NCT02350348

AI is a viable alternative to high throughput screening: a 318-target study

: High throughput screening (HTS) is routinely used to identify bioactive small molecules. This requires physical compounds, which limits coverage of accessible chemical space. Computational approaches combined with vast on-demand chemical libraries can access far greater chemical space, provided that the predictive accuracy is sufficient to identify useful molecules. Through the largest and most diverse virtual HTS campaign reported to date, comprising 318 individual projects, we demonstrate that our AtomNet® convolutional neural network successfully finds novel hits across every major therapeutic area and protein class. We address historical limitations of computational screening by demonstrating success for target proteins without known binders, high-quality X-ray crystal structures, or manual cherry-picking of compounds. We show that the molecules selected by the AtomNet® model are novel drug-like scaffolds rather than minor modifications to known bioactive compounds. Our empirical results suggest that computational methods can substantially replace HTS as the first step of small-molecule drug discovery

Validazione di un modello di innalzamento termico superficiale per trasduttori a ultrasuoni per uso diagnostico: misure sperimentali, analisi statistica dei dati, valutazione dell'attendibilità del modello.

Il presente lavoro di tesi nasce da una collaborazione tra l’Università di Pisa e l’azienda Esaote S.p.A. e riguarda l’innalzamento di temperatura che si riscontra sulla superficie di una sonda ecografica, durante il suo funzionamento, che è un fenomeno legato prevalentemente all’efficienza del trasduttore (cioè alla sua capacità di convertire una variazione di tensione in una variazione di pressione acustica) ma è dovuto anche all’assorbimento degli ultrasuoni da parte dello specifico tessuto sottostante. Poiché, la normativa non stabilisce come calcolare l’innalzamento termico superficiale, è stato necessario, per l’Esaote, sviluppare un modello matematico per il suo monitoraggio, durante un qualunque studio ecografico. Riuscire a decretare l’attendibilità di questo modello, è stato l’intento principale di questa tesi. Nella prima parte dell’elaborato sono stati esposti i principi fisici alla base della formazione dell’immagine con gli ultrasuoni, per poi descrivere la struttura e le principali tipologie di trasduttori a ultrasuoni, l’architettura dell’ecografo insieme alle modalità di rappresentazione dell’immagine ed infine i possibili effetti biologici legati all’uso degli ultrasuoni. Nello specifico dell’argomento di tesi, sono stati presentati i componenti del set – up per la misura dell’innalzamento termico superficiale e successivamente sono stati valutati i possibili errori introdotti dal set – up della misura e spiegato il modello per la previsione dell’innalzamento termico superficiale, affrontando poi la calibrazione del modello stesso, tramite test di verifica eseguiti su alcune modalità di utilizzo dell’ecografo, a cui seguono le conclusioni

Migration and cooperative infrastructures

A proper understanding of the moral and political significance of migration requires a focus on global inequalities. More specifically, it requires a focus on those global inequalities that affect people’s ability to participate in the production of economic goods and non-economic goods (e.g., relationships of intimacy and care, opportunities for self-expression, well-functioning institutions, etc.). We call cooperative infrastructures the complex material and immaterial technologies that allow human beings to cooperate in order to generate human goods. By enabling migrants to access high-quality cooperative infrastructures, migration contributes to the diffusion of technical and socio-political innovations. In this way, it positively affects the ability of individuals from poorer countries to participate in the production of human goods, to benefit from such production, and to contribute to human development. Migration can also damage the material and immateri al components of the cooperative infrastructures accessible in both the host and sending countries; these potential downsides of migration should not be ignored, although arguably they can often be neutralized, alleviated, or compensated

Metabolic and Nutritional Aspects in Paediatric Patients with Klinefelter Syndrome: A Narrative Review

Klinefelter syndrome is the most common sex chromosomal aneuploidy in males. It is well known that patients with this syndrome have greater mortality and morbidity compared to the general population due to cardiovascular diseases and endocrine metabolism disorders. This augmented risk is due both to hypogonadism and to the syndrome itself. Therefore, correct hormonal replacement therapy and early primary prevention are crucial to these patients. Even though different studies are available on this topic in adult patients, only a few authors have focused on the paediatric population. Thus, in this narrative review, we report the current knowledge of metabolic and nutritional aspects in children with Klinefelter syndrome