Search for Third Generation Vector Leptoquarks in p anti-p Collisions at sqrt(s) = 1.96 TeV

We describe a search for a third generation vector leptoquark (VLQ3) that decays to a b quark and tau lepton using the CDF II detector and 322 pb^(-1) of integrated luminosity from the Fermilab Tevatron. Vector leptoquarks have been proposed in many extensions of the standard model (SM). Observing a number of events in agreement with SM expectations, assuming Yang-Mills (minimal) couplings, we obtain the most stringent upper limit on the VLQ3 pair production cross section of 344 fb (493 fb) and lower limit on the VLQ3 mass of 317 GeV/c^2 (251 GeV/c^2) at 95% C.L.Comment: 7 pages, 2 figures, submitted to PR

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

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

IntroductionHypophosphatasia (HPP) is a rare genetic disease caused by inactivating variants of the ALPL gene. Few data are available on the clinical presentation in Italy and/or on Italian HPP surveys.MethodsThere were 30 suspected HPP patients recruited from different Italian tertiary cares. Biological samples and related clinical, biochemical, and anamnestic data were collected and the ALPL gene sequenced. Search for large genomic deletions at the ALPL locus (1p36) was done. Phylogenetic conservation and modeling were applied to infer the effect of the variants on the protein structure.ResultsThere were 21 ALPL variants and one large genomic deletion found in 20 out of 30 patients. Unexpectedly, NGS-driven differential diagnosis allowed uncovering three hidden additional HPP cases, for a total of 33 HPP subjects. Eight out of 24 coding variants were novel and classified as “pathogenic”, “likely pathogenic”, and “variants of uncertain significance”. Bioinformatic analysis confirmed that all the variants strongly destabilize the homodimer structure. There were 10 cases with low ALP and high VitB6 that resulted negative to genetic testing, whereas two positive cases have an unexpected normal ALP value. No association was evident with other biochemical/clinical parameters.DiscussionWe present the survey of HPP Italian patients with the highest ALPL mutation rate so far reported and confirm the complexity of a prompt recognition of the syndrome, mostly for HPP in adults. Low ALP and high VitB6 values are mandatory for the genetic screening, this latter remaining the gold standard not only to confirm the clinical diagnosis but also to make differential diagnosis, to identify carriers, to avoid likely dangerous therapy in unrecognized cases

Search for high-mass diphoton states and limits on Randall-Sundrum gravitons at CDF

We have performed a search for new particles which decay to two photons using 1.2 fb(-1) of integrated luminosity from p (p) over bar collisions at root s = 1.96 TeV collected using the CDF II detector at the Fermilab Tevatron. We find the diphoton mass spectrum to be in agreement with the standard model expectation, and set limits on the cross section times branching ratio for the Randall-Sundrum graviton, as a function of diphoton mass. We subsequently derive lower limits for the graviton mass of 230 GeV/c(2) and 850 GeV/c(2), at the 95% confidence level, for coupling parameters (k=(M) over barP(1)) of 0.01 and 0.1, respectively

Implicazioni diagnostiche e terapeutiche in due casi di tumori cistici del pancreas: mucinoso e sieroso

I tumori cistici del pancreas comprendono, come è noto, un gruppo patologicamente eterogeneo ed alquanto raro di neoplasie che manifestano, peraltro, molti aspetti clinici in comune; essi costituiscono il 10% circa di tutte le lesioni cistiche pancreatiche e l’1% di tutte le forme neoplastiche, avendo così un ruolo importante nell’ambito della chirurgia d’organo. Allo stato attuale vengono distinte due categorie di tumori cistici: la forma sierosa fondamentalmente benigna e quella mucinosa potenzialmente maligna o con caratteristiche di malignità già al momento della diagnosi. Essendo queste neoplasie ancora di difficle interpretazione preoperatoria, è necessario che l’iter diagnostico sia sempre accurato allo scopo di modulare il trattamento chirurgico che si avvale in ogni caso del responso dell’esame istologico estemporaneo, che deve essere sempre fatto su un numero sufficiente di sezioni del tumore. Gli Autori, alla luce di due casi di tumori cistici del pancreas osservati, dopo ampia revisione della letteratura, discutono sulla validità della diagnostica radiologica per immagini ed in particolar modo dell’esame ecografico con mezzo di contrasto, del dosaggio dei markers tumorali specifici e dell’esame istologico supportato dall’immunoistochimica nella caratterizzazione di queste neoplasie, ai fini di un migliore approfondimento sulla conoscenza biologica di una patologia rara e particolarmente interessante

Lipoma primitivo multiplo del mesocolon: una patologia rara

Gli Autori descrivono un caso di lipomatosi multipla del mesocolon e, dopo disamina della letteratura, ne esaminano le caratteristiche peculiari e discutono sulle difficoltà diagnostiche, sugli aspetti anatomopatologici e sul trattamento. La localizzazione intraaddominale del lipoma rappresenta infatti una patologia rara che può porre notevoli difficoltà diagnostiche. Poiché si tratta di tumori che prendono origine da cellule mesenchimali primitive e totipotenti, l’intervento chirurgico radicale è l’unica opzione terapeutica. La diagnosi di certezza spetta all’istologia per differenziare la lesione da altri tipi di tumore mesenchimale

Endoglin -CD105- immuno expression in human foetal and neonatal lungs

Endoglin is a 180 KDa glycoprotein mainly expressed on endothelial cells of newly formed vessels. Its expression is increased by the hypoxia inducible factor 1 (HIF-1), a potent stimulator of VEGF expression. The relative hypoxic environment in which foetal lung develops favours HIF-1 dependent gene expression, including the endoglin and VEGF ones. Herein, we analysed endoglin immunoexpression in the human neonatal and foetal lung throughout gestation. Lungs from 18 foetuses (9-41 weeks), 7 preterm and 2 term infants were submitted to the immunohistochemical study. A slight immunostaining was found in some mesenchymal aggregates in the lungs of foetuses at the first trimester of pregnancy. At mid gestation, endoglin was evidenced in peri-tubular mesenchymal stem cells or in peri-canalicular vessels and in the endothelia of peri-bronchial vessels; by contrast, no immunoreaction was observed in case of Down syndrome or in a foetus with cardiac malformations. At late gestation and in preterm infants, endoglin antibody labelled endothelia of the alveolar capillaries and of peri-bronchial vessels. In case of alveolar capillary dysplasia (ACD) or macrosomy associated with maternal diabetes, endoglin expression was restricted to peri-bronchial vessels; no immunoreaction was encountered in foetuses with IUGR (intra-uterine growth restriction) or massive pulmonary haemorrhage. Lungs of term infants both displayed atelectasis; there was no evidence of endoglin immunoexpression in one case, whereby only the endothelia of peri-bronchial vessels were stained in the other. Our study suggests that lung vasculogenesis endures throughout gestation. Absence of endoglin staining in some pathologic conditions may reflect lung vasculogenesis disorders; nonetheless, since each pathologic state is represented by a single case in our cohort, further studies are required to clarify this issue