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4. Shoulder dystocia: a preventable obstetric emergency?

Author

Baiguini, I., primary, Osella, E., additional, Guglielmi, D., additional, Ferrante, I., additional, Sonzini, M., additional, Mazzoni, G., additional, Poletti de Chaurand, V., additional, Comerio, C., additional, Barresi, S., additional, Pasini, B., additional, Belloli, S., additional, Fucà, A., additional, and Patanè, L., additional

Published
2023
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7. Vaginal delivery in SARS-CoV-2 infected pregnant women in Northern Italy: a retrospective analysis

Author

Ferrazzi, E, Frigerio, L, Savasi, V, Vergani, P, Prefumo, F, Barresi, S, Bianchi, S, Ciriello, E, Facchinetti, F, Gervasi, M, Iurlaro, E, Kustermann, A, Mangili, G, Mosca, F, Patane, L, Spazzini, D, Spinillo, A, Trojano, G, Vignali, M, Villa, A, Zuccotti, G, Parazzini, F, Cetin, I, Ferrazzi E., Frigerio L., Savasi V., Vergani P., Prefumo F., Barresi S., Bianchi S., Ciriello E., Facchinetti F., Gervasi M. T., Iurlaro E., Kustermann A., Mangili G., Mosca F., Patane L., Spazzini D., Spinillo A., Trojano G., Vignali M., Villa A., Zuccotti G., Parazzini F., Cetin I., Ferrazzi, E, Frigerio, L, Savasi, V, Vergani, P, Prefumo, F, Barresi, S, Bianchi, S, Ciriello, E, Facchinetti, F, Gervasi, M, Iurlaro, E, Kustermann, A, Mangili, G, Mosca, F, Patane, L, Spazzini, D, Spinillo, A, Trojano, G, Vignali, M, Villa, A, Zuccotti, G, Parazzini, F, Cetin, I, Ferrazzi E., Frigerio L., Savasi V., Vergani P., Prefumo F., Barresi S., Bianchi S., Ciriello E., Facchinetti F., Gervasi M. T., Iurlaro E., Kustermann A., Mangili G., Mosca F., Patane L., Spazzini D., Spinillo A., Trojano G., Vignali M., Villa A., Zuccotti G., Parazzini F., and Cetin I.

Abstract

Objective: To report mode of delivery and immediate neonatal outcome in COVID-19 infected women. Design: This is a retrospective study. Setting: Twelve hospitals in northern Italy. Participants: Pregnant women with COVID-19 confirmed infection who delivered. Exposure: COVID 19 infection in pregnancy. Methods: SARS-CoV-2 infected women who were admitted and delivered during the period 1-20 march 2020 were eligible. Data were collected from the clinical records using a standardized questionnaire on maternal general characteristics, any medical or obstetric co-morbidity, course of pregnancy, clinical signs and symptoms, treatment of COVID 19 infection, mode of delivery, neonatal data and breastfeeding. Main Outcome and Measure: Data on mode of delivery and neonatal outcome. Results: 42 women with COVID-19 delivered at the participating centres: 24(57,1%, 95% CI= 41,0-72,3) delivered vaginally. An elective cesarean section was performed in 18/42 (42,9%, 95%CI 27,7-59,0) cases: in 8 cases the indication was unrelated to COVID-19 infection. Pneumonia was diagnosed in 19/42(45,2%, 95%CI 29,8-61,3) cases: of these 7/19(36,8%,95CI 16,3-61,6) required oxygen support and 4/19(21,1%,95%CI=6,1-45,6) were admitted to a critical care unit. Two women with COVID-19 breastfed without a mask because infection was diagnosed in the post-partum period: their new-borns tested positive for SARS-Cov-2 infection. In one case a new-born had a positive test after a vaginal operative delivery. Conclusions: Although post-partum infection cannot be excluded with 100% certainty, these findings suggest that vaginal delivery is associated with a low risk of intrapartum SARS-Cov-2 transmission to the new-born.

Published
2020

8. Effect of chemical modulation of toll-like receptor 4 in an animal model of ulcerative colitis

Author

Facchini, F, Di Fusco, D, Barresi, S, Luraghi, A, Minotti, A, Granucci, F, Monteleone, G, Peri, F, Monteleone, I, Facchini F. A., Di Fusco D., Barresi S., Luraghi A., Minotti A., Granucci F., Monteleone G., Peri F., Monteleone I., Facchini, F, Di Fusco, D, Barresi, S, Luraghi, A, Minotti, A, Granucci, F, Monteleone, G, Peri, F, Monteleone, I, Facchini F. A., Di Fusco D., Barresi S., Luraghi A., Minotti A., Granucci F., Monteleone G., Peri F., and Monteleone I.

Abstract

Purpose: The partial ineffectiveness and side effects of inflammatory bowel disease (IBD) current therapies drive basic research to look for new therapeutic target in order to develop new drug lead. Considering the pivotal role played by toll-like receptors (TLRs) in gut inflammation, we evaluate here the therapeutic effect of the synthetic glycolipid TLR4 antagonist FP7. Methods: The anti-inflammatory effect of FP7, active as TLR4 antagonist, was evaluated on peripheral blood mononuclear cells (PBMCs) and lamina propria mononuclear cells (LPMCs) isolated from IBD patients, and in a mouse model of ulcerative colitis. Results: FP7 strongly reduced the inflammatory responses induced by lipopolysaccharide (LPS) in vitro, due to its capacity to compete with LPS for the binding of TLR4/MD-2 receptor complex thus inhibiting both the MyD88- and TRIF-dependent inflammatory pathways. Colitic mice treated with FP7 exhibit reduced colonic inflammation and decreased levels of pro-inflammatory cytokines. Conclusions: This study suggests that TLR4 chemical modulation can be an effective therapeutic approach to IBD. The selectivity of FP7 on TLR4 makes this molecule a promising drug lead for new small molecules-based treatments.

Published
2020

9. CD28.OX40 co-stimulatory combination is high associated activity with of CAR.CD30 long in vivoT persistence cells and

Author

Guercio, M., Orlando, D., Cecca, S. D., Sinibaldi, M., Boffa, I., Caruso, S., Abbaszadeh, Z., Camera, A., Cembrola, B., Bovetti, K., Manni, S., Caruana, I., Ciccone, R., Bufalo, F. D., Merli, P., Vinti, L., Girardi, K., Ruggeri, A., de Stefanis, C., Pezzullo, M., Giorda, E., Scarsella, M., de Vito, R., Barresi, S., Ciolfi, A., Tartaglia, M., Moretta, L., Locatelli, Franco, Quintarelli, C., and de Angelis, B.

Subjects
Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, CAR.CD30
Published
2021

10. Vaginal Delivery in SARS-CoV-2-infected Pregnant Women in Northern Italy: A Retrospective Analysis

Author

Ferrazzi, E., primary, Frigerio, L., additional, Savasi, V., additional, Vergani, P., additional, Prefumo, F., additional, Barresi, S., additional, Bianchi, S., additional, Ciriello, E., additional, Facchinetti, F., additional, Gervasi, M.T., additional, Iurlaro, E., additional, Kustermann, A., additional, Mangili, G., additional, Mosca, F., additional, Patane, L., additional, Spazzini, D., additional, Spinillo, A., additional, Trojano, G., additional, Vignali, M., additional, Villa, A., additional, Zuccotti, G.V., additional, Parazzini, F., additional, and Cetine, L., additional

Published
2021
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13. Vaginal delivery in SARS‐CoV‐2‐infected pregnant women in Northern Italy: a retrospective analysis

Author

Ferrazzi, E, primary, Frigerio, L, additional, Savasi, V, additional, Vergani, P, additional, Prefumo, F, additional, Barresi, S, additional, Bianchi, S, additional, Ciriello, E, additional, Facchinetti, F, additional, Gervasi, MT, additional, Iurlaro, E, additional, Kustermann, A, additional, Mangili, G, additional, Mosca, F, additional, Patanè, L, additional, Spazzini, D, additional, Spinillo, A, additional, Trojano, G, additional, Vignali, M, additional, Villa, A, additional, Zuccotti, GV, additional, Parazzini, F, additional, and Cetin, I, additional

Published
2020
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15. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Author

Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), Bhoj, E.J. (Elizabeth J.), Bryant, L. (Laura), Li, D. (Dong), Cox, S.G. (Samuel G.), Marchione, D. (Dylan), Joiner, E.F. (Evan F.), Wilson, K. (Khadija), Janssen, K. (Kevin), Lee, P. (Pearl), March, K. (Keith), Nair, D. (Divya), Sherr, E. (Elliott), Fregeau, B. (Brieana), Wierenga, K.J. (Klaas J.), Wadley, A. (Alexandrea), Mancini, G.M.S. (Grazia), Powell-Hamilton, N. (Nina), Kamp, J.J.P. (Jacques) van de, Grebe, T. (Theresa), Dean, J. (John), Ross, A.J. (Alison), Crawford, H.P. (Heather P.), Powis, Z. (Zoe), Cho, M.T. (Megan T.), Willing, M.C. (Marcia C.), Manwaring, L. (Linda), Schot, R. (Rachel), Nava, C. (Caroline), Afenjar, A. (Alexandra), Lessel, D. (Davor), Wagner, M. (Matias), Klopstock, T. (Thomas), Winkelmann, B., Catarino, C.B. (Claudia B.), Retterer, K. (Kyle), Schuette, J.L. (Jane L.), Innis, J.W. (Jeffrey), Pizzino, A. (Amy), Lüttgen, S. (Sabine), Denecke, J. (Jonas), Strom, T.M. (Tim), Monaghan, K.G. (Kristin G.), Yuan, Z.-F. (Zuo-Fei), Dubbs, H. (Holly), Bend, R. (Renee), Lee, J.A. (Jennifer A.), Lyons, M.J. (Michael J.), Hoefele, J. (Julia), Günthner, R. (Roman), Reutter, H. (Heiko), Keren, B. (Boris), Radtke, K. (Kelly), Sherbini, O. (Omar), Mrokse, C. (Cameron), Helbig, K.L. (Katherine L.), Odent, S. (Sylvie), Cogne, B. (Benjamin), Mercier, S. (Sandra), Bezieau, S. (Stephane), Besnard, T. (Thomas), Kury, S. (Sebastien), Redon, R. (Richard), Reinson, K. (Karit), Wojcik, M.H. (Monica H.), Õunap, K. (Katrin), Ilves, P. (Pilvi), Innes, A.M. (A Micheil), Kernohan, K.D. (Kristin), Costain, G. (Gregory), Meyn, M.S. (M Stephen), Chitayat, D. (David), Zackai, E. (Elaine), Lehman, A. (Anna), Kitson, H. (Hilary), Martin, M.G. (Martin G.), Martinez-Agosto, J.A. (Julian A.), Nelson, S.F. (Stan F.), Palmer, C.G.S. (Christina G S), Papp, J.C. (Jeanette C.), Parker, N.H. (Neil H.), Sinsheimer, J.S. (Janet S.), Vilain, E. (Eric), Wan, J. (Jijun), Yoon, A.J. (Amanda J.), Zheng, A. (Allison), Brimble, E. (Elise), Ferrero, G.B. (Giovanni Battista), Radio, F.C. (Francesca Clementina), Carli, D. (Diana), Barresi, S. (Sabina), Brusco, A. (Alfredo), Tartaglia, M. (Marco), Thomas, J.M. (Jennifer Muncy), Umana, L. (Luis), Weiss, M.M. (Marjan M.), Gotway, G. (Garrett), Stuurman, K.E. (Kyra), Thompson, M.L. (Michelle L.), McWalter, K. (Kirsty), Stumpel, C.T.R.M. (Constance T R M), Stevens, S.J.C. (Servi J C), Stegmann, A.P.A. (Alexander P A), Tveten, K. (Kristian), Vøllo, A. (Arve), Prescott, T. (Trine), Fagerberg, C. (Christina), Laulund, L.W. (Lone Walentin), Larsen, M.J. (Martin J.), Byler, M. (Melissa), Lebel, R.R. (Robert Roger), Hurst, A.C. (Anna C.), Dean, J. (Joy), Schrier Vergano, S.A. (Samantha A.), Norman, J. (Jennifer), Mercimek-Andrews, S. (Saadet), Neira, J. (Juanita), Van Allen, M.I. (Margot I.), Longo, N. (Nicola), Sellars, E. (Elizabeth), Louie, R.J. (Raymond J.), Cathey, S.S. (Sara S.), Brokamp, E. (Elly), Héron, D. (Delphine), Snyder, M. (Molly), Vanderver, A. (Adeline), Simon, C. (Celeste), de la Cruz, X. (Xavier), Padilla, N. (Natália), Crump, J.G. (J Gage), Chung, W. (Wendy), Garcia, B. (Benjamin), Hakonarson, H. (Hakon), and Bhoj, E.J. (Elizabeth J.)

Abstract

Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.

Published
2020
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16. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Author

Hengel, H. (Holger), Bosso-Lefèvre, C. (Célia), Grady, G. (George), Szenker-Ravi, E. (Emmanuelle), Li, H. (Hankun), Pierce, S. (Sarah), Lebigot, É. (Élise), Tan, T.-T. (Thong-Teck), Eio, M.Y. (Michelle Y.), Narayanan, G. (Gunaseelan), Utami, K.H. (Kagistia Hana), Yau, M. (Monica), Handal, N. (Nader), Deigendesch, W. (Werner), Keimer, R. (Reinhard), Marzouqa, H.M. (Hiyam M.), Gunay-Aygun, M. (Meral), Muriello, M.J. (Michael J.), Verhelst, H. (H.), Weckhuysen, S. (Sarah), Mahida, S. (Sonal), Naidu, S. (Sakkubai), Thomas, T.G. (Terrence G.), Lim, J.Y. (Jiin Ying), Tan, E.S. (Ee Shien), Haye, D. (Damien), Willemsen, M.A. (Michél), Oegema, R. (Renske), Mitchell, W.G. (Wendy G.), Pierson, T.M. (Tyler Mark), Andrews, M.V. (Marisa V.), Willing, M.C. (Marcia C.), Rodan, L.H. (Lance H.), Barakat, T.S. (Tahsin Stefan), Slegtenhorst, M.A. (Marjon) van, Gavrilova, R.H. (Ralitza H.), Martinelli, D. (Diego), Gilboa, T. (Tal), Tamim, A.M. (Abdullah M.), Hashem, M.O. (Mais O.), AlSayed, M.D. (Moeenaldeen D.), Abdulrahim, M.M. (Maha M.), Al-Owain, M. (Mohammed), Awaji, A. (Ali), Mahmoud, A.A.H. (Adel A. H.), Faqeih, E.A. (Eissa A.), Asmari, A.A. (Ali Al), Algain, S.M. (Sulwan M.), Jad, L.A. (Lamyaa A.), Aldhalaan, H.M. (Hesham M.), Helbig, I. (Ingo), Koolen, D.A. (David), Rieß, A. (Angelika), Kraegeloh-Mann, I. (Ingeborg), Bauer, P. (Peter), Gulsuner, S. (Suleyman), Stamberger, H. (Hannah), Ng, A.Y.J. (Alvin Yu Jin), Tang, S. (Sha), Tohari, S. (Sumanty), Keren, B. (Boris), Schultz-Rogers, L.E. (Laura E.), Klee, E.W. (Eric W.), Barresi, S. (Sabina), Tartaglia, M. (Marco), Mor-Shaked, H. (Hagar), Maddirevula, S. (Sateesh), Begtrup, A. (Amber), Telegrafi, A. (Aida), Pfundt, R. (Rolph), Schüle, R. (Rebecca), Ciruna, B. (Brian), Bonnard, C. (Carine), Pouladi, M.A. (Mahmoud A.), Stewart, J.C. (James C.), Claridge-Chang, A. (Adam), Lefeber, D.J. (Dirk J.), Alkuraya, F.S. (Fowzan S), Mathuru, A.S. (Ajay S.), Venkatesh, B. (Byrappa), Barycki, J.J. (Joseph J.), Simpson, M.A. (Melanie A.), Jamuar, S.S. (Saumya S.), Schöls, L. (Ludger), Reversade, B. (Bruno), Hengel, H. (Holger), Bosso-Lefèvre, C. (Célia), Grady, G. (George), Szenker-Ravi, E. (Emmanuelle), Li, H. (Hankun), Pierce, S. (Sarah), Lebigot, É. (Élise), Tan, T.-T. (Thong-Teck), Eio, M.Y. (Michelle Y.), Narayanan, G. (Gunaseelan), Utami, K.H. (Kagistia Hana), Yau, M. (Monica), Handal, N. (Nader), Deigendesch, W. (Werner), Keimer, R. (Reinhard), Marzouqa, H.M. (Hiyam M.), Gunay-Aygun, M. (Meral), Muriello, M.J. (Michael J.), Verhelst, H. (H.), Weckhuysen, S. (Sarah), Mahida, S. (Sonal), Naidu, S. (Sakkubai), Thomas, T.G. (Terrence G.), Lim, J.Y. (Jiin Ying), Tan, E.S. (Ee Shien), Haye, D. (Damien), Willemsen, M.A. (Michél), Oegema, R. (Renske), Mitchell, W.G. (Wendy G.), Pierson, T.M. (Tyler Mark), Andrews, M.V. (Marisa V.), Willing, M.C. (Marcia C.), Rodan, L.H. (Lance H.), Barakat, T.S. (Tahsin Stefan), Slegtenhorst, M.A. (Marjon) van, Gavrilova, R.H. (Ralitza H.), Martinelli, D. (Diego), Gilboa, T. (Tal), Tamim, A.M. (Abdullah M.), Hashem, M.O. (Mais O.), AlSayed, M.D. (Moeenaldeen D.), Abdulrahim, M.M. (Maha M.), Al-Owain, M. (Mohammed), Awaji, A. (Ali), Mahmoud, A.A.H. (Adel A. H.), Faqeih, E.A. (Eissa A.), Asmari, A.A. (Ali Al), Algain, S.M. (Sulwan M.), Jad, L.A. (Lamyaa A.), Aldhalaan, H.M. (Hesham M.), Helbig, I. (Ingo), Koolen, D.A. (David), Rieß, A. (Angelika), Kraegeloh-Mann, I. (Ingeborg), Bauer, P. (Peter), Gulsuner, S. (Suleyman), Stamberger, H. (Hannah), Ng, A.Y.J. (Alvin Yu Jin), Tang, S. (Sha), Tohari, S. (Sumanty), Keren, B. (Boris), Schultz-Rogers, L.E. (Laura E.), Klee, E.W. (Eric W.), Barresi, S. (Sabina), Tartaglia, M. (Marco), Mor-Shaked, H. (Hagar), Maddirevula, S. (Sateesh), Begtrup, A. (Amber), Telegrafi, A. (Aida), Pfundt, R. (Rolph), Schüle, R. (Rebecca), Ciruna, B. (Brian), Bonnard, C. (Carine), Pouladi, M.A. (Mahmoud A.), Stewart, J.C. (James C.), Claridge-Chang, A. (Adam), Lefeber, D.J. (Dirk J.), Alkuraya, F.S. (Fowzan S), Mathuru, A.S. (Ajay S.), Venkatesh, B. (Byrappa), Barycki, J.J. (Joseph J.), Simpson, M.A. (Melanie A.), Jamuar, S.S. (Saumya S.), Schöls, L. (Ludger), and Reversade, B. (Bruno)

Abstract

Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients’ primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy.

Published
2020
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17. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Author

Hengel, H., Bosso-Lefevre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, E., Tan, T.T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., Slegtenhorst, M. van, Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R.P., Schule, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, Malcolm, Jamuar, S.S., Schols, L., Reversade, B., Hengel, H., Bosso-Lefevre, C., Grady, G., Szenker-Ravi, E., Li, H., Pierce, S., Lebigot, E., Tan, T.T., Eio, M.Y., Narayanan, G., Utami, K.H., Yau, M., Handal, N., Deigendesch, W., Keimer, R., Marzouqa, H.M., Gunay-Aygun, M., Muriello, M.J., Verhelst, H., Weckhuysen, S., Mahida, S., Naidu, S., Thomas, T.G., Lim, J.Y., Tan, E.S., Haye, D., Willemsen, M.A.A.P., Oegema, R., Mitchell, W.G., Pierson, T.M., Andrews, M.V., Willing, M.C., Rodan, L.H., Barakat, T.S., Slegtenhorst, M. van, Gavrilova, R.H., Martinelli, D., Gilboa, T., Tamim, A.M., Hashem, M.O., AlSayed, M.D., Abdulrahim, M.M., Al-Owain, M., Awaji, A., Mahmoud, A.A.H., Faqeih, E.A., Asmari, A.A., Algain, S.M., Jad, L.A., Aldhalaan, H.M., Helbig, I., Koolen, D.A., Riess, A., Kraegeloh-Mann, I., Bauer, P., Gulsuner, S., Stamberger, H., Ng, A.Y., Tang, S., Tohari, S., Keren, B., Schultz-Rogers, L.E., Klee, E.W., Barresi, S., Tartaglia, M., Mor-Shaked, H., Maddirevula, S., Begtrup, A., Telegrafi, A., Pfundt, R.P., Schule, R., Ciruna, B., Bonnard, C., Pouladi, M.A., Stewart, J.C., Claridge-Chang, A., Lefeber, D.J., Alkuraya, F.S., Mathuru, A.S., Venkatesh, B., Barycki, J.J., Simpson, Malcolm, Jamuar, S.S., Schols, L., and Reversade, B.

Abstract

Contains fulltext : 218288.pdf (publisher's version ) (Open Access), Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients' primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy.

Published
2020

18. A recurrent de novo CAPRIN1 mutation causes a novel progressive early onset neurodegenerative disorder

Author

Delle Vedove, A., Zanni, G., Eckenweiler, M., Storbeck, M., Barresi, S., Pizzi, S., Hosseinibarkooie, S., Mendoza-Ferreira, N., Hoelker, I., Koerber, F., Kye, M., Bertini, E., Kirschner, J., Tartaglia, M., Wirth, B., Delle Vedove, A., Zanni, G., Eckenweiler, M., Storbeck, M., Barresi, S., Pizzi, S., Hosseinibarkooie, S., Mendoza-Ferreira, N., Hoelker, I., Koerber, F., Kye, M., Bertini, E., Kirschner, J., Tartaglia, M., and Wirth, B.

Published
2020

19. The Interplay between CD27dull and CD27bright B Cells Ensures the Flexibility, Stability, and Resilience of Human B Cell Memory

Author

Grimsholm, O., Piano Mortari, E., Davydov, A. N., Shugay, M., Obraztsova, A. S., Bocci, C., Marasco, E., Marcellini, V., Aranburu, A., Farroni, C., Silvestris, D. A., Cristofoletti, C., Giorda, E., Scarsella, M., Cascioli, S., Barresi, S., Lougaris, V., Plebani, A., Cancrini, C., Finocchi, A., Moschese, V., Valentini, D., Vallone, C., Signore, F., de Vincentiis, G., Zaffina, S., Russo, G., Gallo, A., Locatelli, Franco, Tozzi, A. E., Tartaglia, M., Chudakov, D. M., Carsetti, R., Locatelli F. (ORCID:0000-0002-7976-3654), Grimsholm, O., Piano Mortari, E., Davydov, A. N., Shugay, M., Obraztsova, A. S., Bocci, C., Marasco, E., Marcellini, V., Aranburu, A., Farroni, C., Silvestris, D. A., Cristofoletti, C., Giorda, E., Scarsella, M., Cascioli, S., Barresi, S., Lougaris, V., Plebani, A., Cancrini, C., Finocchi, A., Moschese, V., Valentini, D., Vallone, C., Signore, F., de Vincentiis, G., Zaffina, S., Russo, G., Gallo, A., Locatelli, Franco, Tozzi, A. E., Tartaglia, M., Chudakov, D. M., Carsetti, R., and Locatelli F. (ORCID:0000-0002-7976-3654)

Abstract

Grimsholm et al. show that CD27dull and CD27bright represent sequential MBC developmental stages. T cell- and germinal center (GC)-independent CD27dull MBCs are the plastic source of strongly selected and GC-dependent CD27bright MBCs. CD27dull MBCs, able to expand and differentiate in response to change, ensure stability and flexibility of human B cell memory.

Published
2020

20. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Author

Reversade, Bruno, Hengel, H.; Bosso-Lefèvre, C.; Grady, G.; Szenker-Ravi, E.; Li, H.; Pierce, S.; Lebigot, É.; Tan, T.-T.; Eio, M.Y.; Narayanan, G.; Utami, K.H.; Yau, M.; Handal, N.; Deigendesch, W.; Keimer, R.; Marzouqa, H.M.; Gunay-Aygun, M.; Muriello, M.J.; Verhelst, H.; Weckhuysen, S.; Mahida, S.; Naidu, S.; Thomas, T.G.; Lim, J.Y.; Tan, E.S.; Haye, D.; Willemsen, M.A.A.P.; Oegema, R.; Mitchell, W.G.; Pierson, T.M.; Andrews, M.V.; Willing, M.C.; Rodan, L.H.; Barakat, T.S.; van Slegtenhorst, M.; Gavrilova, R.H.; Martinelli, D.; Gilboa, T.; Tamim, A.M.; Hashem, M.O.; AlSayed, M.D.; Abdulrahim, M.M.; Al-Owain, M.; Awaji, A.; Mahmoud, A.A.H.; Faqeih, E.A.; Asmari, A.A.; Algain, S.M.; Jad, L.A.; Aldhalaan, H.M.; Helbig, I.; Koolen, D.A.; Riess, A.; Kraegeloh-Mann, I.; Bauer, P.; Gulsuner, S.; Stamberger, H.; Ng, A.Y.J.; Tang, S.; Tohari, S.; Keren, B.; Schultz-Rogers, L.E.; Klee, E.W.; Barresi, S.; Tartaglia, M.; Mor-Shaked, H.; Maddirevula, S.; Begtrup, A.; Telegrafi, A.; Pfundt, R.; Schüle, R.; Ciruna, B.; Bonnard, C.; Pouladi, M.A.; Stewart, J.C.; Claridge-Chang, A.; Lefeber, D.J.; Alkuraya, F.S.; Mathuru, A.S.; Venkatesh, B.; Barycki, J.J.; Simpson, M.A.; Jamuar, S.S.; Schöls, L, School of Medicine, Reversade, Bruno, Hengel, H.; Bosso-Lefèvre, C.; Grady, G.; Szenker-Ravi, E.; Li, H.; Pierce, S.; Lebigot, É.; Tan, T.-T.; Eio, M.Y.; Narayanan, G.; Utami, K.H.; Yau, M.; Handal, N.; Deigendesch, W.; Keimer, R.; Marzouqa, H.M.; Gunay-Aygun, M.; Muriello, M.J.; Verhelst, H.; Weckhuysen, S.; Mahida, S.; Naidu, S.; Thomas, T.G.; Lim, J.Y.; Tan, E.S.; Haye, D.; Willemsen, M.A.A.P.; Oegema, R.; Mitchell, W.G.; Pierson, T.M.; Andrews, M.V.; Willing, M.C.; Rodan, L.H.; Barakat, T.S.; van Slegtenhorst, M.; Gavrilova, R.H.; Martinelli, D.; Gilboa, T.; Tamim, A.M.; Hashem, M.O.; AlSayed, M.D.; Abdulrahim, M.M.; Al-Owain, M.; Awaji, A.; Mahmoud, A.A.H.; Faqeih, E.A.; Asmari, A.A.; Algain, S.M.; Jad, L.A.; Aldhalaan, H.M.; Helbig, I.; Koolen, D.A.; Riess, A.; Kraegeloh-Mann, I.; Bauer, P.; Gulsuner, S.; Stamberger, H.; Ng, A.Y.J.; Tang, S.; Tohari, S.; Keren, B.; Schultz-Rogers, L.E.; Klee, E.W.; Barresi, S.; Tartaglia, M.; Mor-Shaked, H.; Maddirevula, S.; Begtrup, A.; Telegrafi, A.; Pfundt, R.; Schüle, R.; Ciruna, B.; Bonnard, C.; Pouladi, M.A.; Stewart, J.C.; Claridge-Chang, A.; Lefeber, D.J.; Alkuraya, F.S.; Mathuru, A.S.; Venkatesh, B.; Barycki, J.J.; Simpson, M.A.; Jamuar, S.S.; Schöls, L, and School of Medicine

Abstract

Developmental epileptic encephalopathies are devastating disorders characterized by intractable epileptic seizures and developmental delay. Here, we report an allelic series of germline recessive mutations in UGDH in 36 cases from 25 families presenting with epileptic encephalopathy with developmental delay and hypotonia. UGDH encodes an oxidoreductase that converts UDP-glucose to UDP-glucuronic acid, a key component of specific proteoglycans and glycolipids. Consistent with being loss-of-function alleles, we show using patients’ primary fibroblasts and biochemical assays, that these mutations either impair UGDH stability, oligomerization, or enzymatic activity. In vitro, patient-derived cerebral organoids are smaller with a reduced number of proliferating neuronal progenitors while mutant ugdh zebrafish do not phenocopy the human disease. Our study defines UGDH as a key player for the production of extracellular matrix components that are essential for human brain development. Based on the incidence of variants observed, UGDH mutations are likely to be a frequent cause of recessive epileptic encephalopathy., German Research Foundation (DFG); European Union (European Union); NEUROMICS Network; International Coordination Action (ICA); Fund for Scientific Research Flanders (FWO); Netherlands Organization for Scientific Research (ZONMW VIDI); National Medical Research Council, Singapore; A Strategic Positioning Fund on Genetic Orphan Diseases (GODAFIT); Industry Alignment Fund on Singapore Childhood Undiagnosed Diseases Program (SUREKids); Biomedical Research Council, A*STAR; Diana and Steve Marienhoff Fashion Industries Guild Endowed Fellowship in Pediatric Neuromuscular Diseases; Fondazione Bambino Gesù (Vite Coraggiose); Canadian Institutes of Health Research; Natural Sciences and Engineering Research Council of Canada; Eurocores Program EuroEPINOMICS; University of Antwerp Research Fund; FRAXA Foundation; Brain & Behavior Research Foundation, NARSAD Young Investigator Grant

Published
2020

21. Gating-affecting mutations in KCNK4 cause a recognizable neurodevelopmental syndrome

Author

Radio, F. C., Calligari, P., Caputo, V., Dentici, M. L., Falah, N., High, F., Pantaleoni, F., Barresi, S., Ciolfi, A., Pizzi, S., Bruselles, A., Person, R., Richards, S., Cho, M. T., Sepulveda, D. J. Claps, Pro, S., Battini, R., Zampino, G., Digilio, M. C., Bocchinfuso, G., Dallapiccola, B., Lorenzo Stella, Bauer, C. K., and Tartaglia, M.

Subjects
Settore MED/03
Published
2019

22. Strategies for preventing group B streptococcal infections in newborns: A nation-wide survey of Italian policies

Author

Tzialla, C, berardi, A, farina, C, clerici, P, borghesi, A, viora, E, scollo, P, stronati, M, Task Force for group B streptococcal infections for the Italian Society of Neonatology including Stival, G, barbaglia, Ma, guala, A, giunta, E, parola, L, grossignani, Mr, perri, P, tubaldi, L, alletto, G, daidone, S, flacco, V, dani, C, sterpa, A, rapisardi, G, elicio, Mr, faldella, G, capretti, Mg, messner, H, bandiera, M, achille, C, azzali, A, montrasio, G, mariani, S, galvagno, G, giacosa, E, de Angelis, F, spandrio, M, serra, A, garofalo, F, perona, A, porcelli, F, ferrero, F, De Franco, S, paollilo, P, picone, S, besana, R, varisco, T, farina, M, memo, L, nicolini, G, lietti, D, Di Chiara, G, rottoli, A, Bonabitacola, T, Cortis, E, Neri, E, Martinelli, S, Ilardi, L, Rondanini, Gf, Calzi, P, Gatta, A, Quntadamo, Pa, Ivaldi, M, Terenzani, L, Di Lascio, N, Travaglio, Md, Vetrano, G, Furcolo, G, Vitacco, V, Intini, C, Frigerio, M, Stroppiana, P, Policicchio, G, Mesirca, P, Gianino, P, Audenio, E, Paludetto, R, Raimondi, F, Pugliese, A, Valentino, L, Nosari, N, Marchesano, G, Chirico, G, Bellù, R, Menchini, M, Poletti, A, E T, Vacchiano, Pinto, L, E D, Perri, Coppola, R, Perini, R, Vetrella, A, De Luca, G, Lista, G, Cavigioli, F, Bettinelli, A, Massironi, E, Franco, C, Bernardo, L, Poli, S, Palladini, M, Tota, V, Spadavecchia, F, Zuccotti, Gv, Pogliani, L, Bracaglia, G, Mancini, Al, Zocco, F, Iozzia, G, Auriemma, A, Teani, M, Mangilli, G, Tempra, Am, Di Terlizi, L, Bottino, R, Salvi, C, Fortunato, V, Musaico, R, Gargantini, G, Carrera, G, Magaldi, R, Taurino, L, D'Onofrio, Am, Buffone, E, Tempera, A, Agosti, M, Garzia, P, Mosca, F, Pugni, L, Tagliabue, P, Colombo, C, Demi, M, Picco, G, Carlucci, A, Zorzi, G, Padula, D, Cardone, Ml, Buonocore, G, Muraca, Mc, Boldrini, A, Ciantelli, M, Lanari, M, Serra, L, Felici, L, Banderalli, G, Brambilla, C, Dall'Agnola, A, Viviani, E, Zonca, Mc, Licardi, G, Chiara, A, Ancora, G, Papa, I, Gancia, P, Pomero, G, Deloglu, A, Villani, P, Mussini, P, Canidio, E, Migliavacca, D, Di Fabio, S, Cipollone, I, Biasucci, G, Rubbi, P, Piepoli, M, Guastaferro, N, Infriccioli, F, Bertino, E, Perathoner, C, Parmigiani, S, Suriano, G, Ianniello, C, Biasini, A, Azzalli, M, Timpani, G, Barresi, S, Caoci, G, Ciccotti, R, De Curtis, M, Natale, F, Finocchi, M, Haass, C, Milillo, F, Lucieri, S, Guercio, E, Canepa, Sa, Scozia, G, Antonucci, R, Limongelli, O, Macciò, S, Mongelli, F, Colonna, F, Dragovic, D, Calipa, Mt, Cohen, A, Moresco, L, Italian Society of Obstetricians and Gynecologists including La Spina, R, Ruggeri, R, Luehwink, A, Brattoli, M, Fedi, A, Lacchi, L, Ettore, G, Pappalardo, E, Conoscenti, G, Zeni, B, Spellecchia, D, Favretti, L, Spagna, L, Zaglio, S, Bresciani, D, Bandini, A, Mancini, R, Mustoni, P, Dodero, D, Grimaldi, M, Di Mario, M, Migliorini, P, Kemeny, A, Anastasio, Ps, Riccardi, T, Maggino, T, Cerri, G, Puggina, P, Marconi, Am, Morgia, S, Bellia, G, D'Anna, Mr, Catania, M, Bacchi Modena, A, Franchi, L, Calonaci, N, Schettini, S, Paradiso, R, Saccucci, P, Ioppi, M, Zorzi, M, Stellin, G, Patacchiola, F, Carrata, L, Bassini, D, San Marco, L, Todros, T, Tibadi, C, Liborio, M, Italian Association of Clinical Microbiologists including Laricchia, R, Tauro, L, Ferrara, F, Nuara, C, Ghiraldi, E, Molinari, F, Comessatti, A, Rocchetti, A, Di Matteo, L, Miconi, V, Calvi, P, Pernigotti, A, Fabozzi, F, Micca, G, Monticone, G, Sarti, M, Da Rin, G, Zoppelletto, M, Modolo, E, Landini, Mp, Furlini, G, Galluppi, E, Pagani, E, Aschbacher, R, Innocenti, P, Bresolin, N, Raggi, Me, Bonfanti, C, De Francesco, M, Santer, P, Griessmaier, A, De Francesco, D, Pirali, A, Prasciolu, C, Usai, F, Cuzzone, G, Scutellà, M, Tramacere, P, Fossati, D, Piaserico, G, Bordignon, G, Sciacca, A, Di Vincenzo, F, Imbriani, A, Melotti, D, Catanoso, G, Rivetti, I, Neri, G, Bruno, R, Bacelle, L, Sartore, P, Giana, G, Sala, E, Giraldi, C, Cavalcanti, P, Perugini, M, Perugini, A, Ginardi, C, Maritano, D, Ferrini, A, Bonettini, A, Avanzini, A, Gasperoni, S, Pieretti, B, Montanari, E, Carillo, C, Rossi, Mr, Laureti, A, Baldoni, Ml, Serra, D, Melioli, G, Bandettini, R, Oneto, F, Colla, R, Storchi Incerti, S, Lanzini, F, Pauri, P, Tili, E, Leone, Ra, Verdastro, G, Megha, M, Luzzaro, F, Conti, A, Busulini, L, Mirri, P, Diodati, R, Vettori, C, Pittalis, S, Anesi, A, Fiore, A, Goglia, L, Vitullo, E, Sinno, A, Platzgummer, S, Spitaler, C, Trabucchi, Mc, Besozzi, M, Cesana, E, Inghilleri, G, Grosso, S, D'Angelo, R, Fogato, E, Lavarda, F, Ortisi, G, Clementi, M, Cichero, P, Rumpianesi, F, Venturelli, C, Mortillaro, F, Daffara, S, Catania, Mr, Iula, D, Andreoni, S, Politi, A, Agostinelli, C, Paparella, C, Capozzi, D, Notaris, P, Bistoni, F, Mencacci, A, Valentini, M, Filippetti, A, Confalonieri, M, Novarese, O, Bonini, F, Salamone, D, Camporese, A, De Rosa, R, Casprini, P, Degl'Innocenti, R, Giordano, R, Allù, Mt, Zanella, D, Malandrino, M, Tronci, M, Valmarin, M, Leonetti, G, Falco, S, Meledandri, M, Ballardini, M, Spanò, A, Cava, Mc, Mascellino, Mt, Schinella, M, Gualdi, P, Casari, E, Scattolo, N, Motta, C, Perfetti, C, Bassano, M, Cera, G, Iafisco, P, Mura, I, Palmieri, A, Migliardi, M, Ferlini, M, Grandi, G, Giardini, F, Albano, F, Latino, M, Ferrero, Mp, Bellizia, L, Russolo, M, Russolo, S, Pesenti, A, Fasano, Ma, Previato, S, Radillo, O, Busetti, M, Ferrari, P, Siderini, V, Puzzolante, L, Scarparo, C, Arzese, A, Cappuccia, N, Lodolo, L, Delledonne, L, Gramoni, A, Maiolo, V, Gheller, A, Spadaro, S, Balzaretti, M, Tzialla, C., Berardi, A., Farina, C., Clerici, P., Borghesi, A., Viora, E., Scollo, P., Stronati, M., Stival, G., Barbaglia, M. A., Guala, A., Giunta, E., Parola, L., Grossignani, M. R., Perri, P., Tubaldi, L., Alletto, G., Daidone, S., Flacco, V., Dani, C., Sterpa, A., Rapisardi, G., Elicio, M. R., Faldella, G., Capretti, M. G., Messner, H., Bandiera, M., Achille, C., Azzali, A., Montrasio, G., Mariani, S., Galvagno, G., Giacosa, E., de Angelis, F., Spandrio, M., Serra, A., Garofalo, F., Perona, A., Porcelli, F., Ferrero, F., De Franco, S., Paollilo, P., Picone, S., Besana, R., Varisco, T., Farina, M., Memo, L., Nicolini, G., Lietti, D., Di Chiara, G., Rottoli, A., Bonabitacola, T., Cortis, E., Neri, E., Martinelli, S., Ilardi, L., Rondanini, G. F., Calzi, P., Gatta, A., Quntadamo, P. A., Ivaldi, M., Terenzani, L., Di Lascio, N., Travaglio, M. D., Vetrano, G., Furcolo, G., Vitacco, V., Intini, C., Frigerio, M., Stroppiana, P., Policicchio, G., Mesirca, P., Gianino, P., Audenio, E., Paludetto, R., Raimondi, F., Pugliese, A., Valentino, L., Nosari, N., Marchesano, G., Chirico, G., Bell(`u), R., Menchini, M., Poletti, A., Vacchiano, T., Pinto, L., Perri, D., Coppola, R., Perini, R., Vetrella, A., De Luca, G., Lista, G., Cavigioli, F., Bettinelli, A., Massironi, E., Franco, C., Bernardo, L., Poli, S., Palladini, M., Tota, V., Spadavecchia, F., Zuccotti, G. V., Pogliani, L., Bracaglia, G., Mancini, A. L., Zocco, F., Iozzia, G., Auriemma, A., Teani, M., Mangilli, G., Tempra, A. M., Di Terlizi, L., Bottino, R., Salvi, C., Fortunato, V., Musaico, R., Gargantini, G., Carrera, G., Magaldi, R., Taurino, L., D?onofrio, A. M., Buffone, E., Tempera, A., Agosti, M., Garzia, P., Mosca, F., Pugni, L., Tagliabue, P., Colombo, C., Demi, M., Picco, G., Carlucci, A., Zorzi, G., Padula, D., Cardone, M. L., Buonocore, G., Muraca, M. C., Boldrini, A., Ciantelli, M., Lanari, M., Serra, L., Felici, L., Banderalli, G., Brambilla, C., Dall?agnola, A., Viviani, E., Zonca, M. C., Licardi, G., Chiara, A., Ancora, G., Papa, I., Gancia, P., Pomero, G., Deloglu, A., Villani, P., Mussini, P., Canidio, E., Migliavacca, D., Di Fabio, S., Cipollone, I., Biasucci, G., Rubbi, P., Piepoli, M., Guastaferro, N., Infriccioli, F., Bertino, E., Perathoner, C., Parmigiani, S., Suriano, G., Ianniello, C., Biasini, A., Azzalli, M., Timpani, G., Barresi, S., Caoci, G., Ciccotti, R., De Curtis, M., Natale, F., Finocchi, M., Haass, C., Milillo, F., Lucieri, S., Guercio, E., Canepa, S. A., Scozia, G., Antonucci, R., Limongelli, O., Macci(`o), S., Mongelli, F., Colonna, F., Dragovic, D., Calipa, M. T., Cohen, A., Moresco, L., La Spina, R., Ruggeri, R., Luehwink, A., Brattoli, M., Fedi, A., Lacchi, L., Ettore, G., Pappalardo, E., Conoscenti, G., Zeni, B., Spellecchia, D., Favretti, L., Spagna, L., Zaglio, S., Bresciani, D., Bandini, A., Mancini, R., Mustoni, P., Dodero, D., Grimaldi, M., Di Mario, M., Migliorini, P., Kemeny, A., Anastasio, P. S., Riccardi, T., Maggino, T., Cerri, G., Puggina, P., Marconi, A. M., Morgia, S., Bellia, G., D?anna, M. R., Catania, M., Bacchi Modena, A., Franchi, L., Calonaci, N., Schettini, S., Paradiso, R., Saccucci, P., Ioppi, M., Zorzi, M., Stellin, G., Patacchiola, F., Carrata, L., Bassini, D., San Marco, L., Todros, T., Tibadi, C., Liborio, M., Laricchia, R., Tauro, L., Ferrara, F., Nuara, C., Ghiraldi, E., Molinari, F., Comessatti, A., Rocchetti, A., Di Matteo, L., Miconi, V., Calvi, P., Pernigotti, A., Fabozzi, F., Micca, G., Monticone, G., Sarti, M., Da Rin, G., Zoppelletto, M., Modolo, E., Landini, M. P., Furlini, G., Galluppi, E., Pagani, E., Aschbacher, R., Innocenti, P., Bresolin, N., Raggi, M. E., Bonfanti, C., De Francesco, M., Santer, P., Griessmaier, A., De Francesco, D., Pirali, A., Prasciolu, C., Usai, F., Cuzzone, G., Scutell(`a), M., Tramacere, P., Fossati, D., Piaserico, G., Bordignon, G., Sciacca, A., Di Vincenzo, F., Imbriani, A., Melotti, D., Catanoso, G., Rivetti, I., Neri, G., Bruno, R., Bacelle, L., Sartore, P., Giana, G., Sala, E., Giraldi, C., Cavalcanti, P., Perugini, M., Perugini, A., Ginardi, C., Maritano, D., Ferrini, A., Bonettini, A., Avanzini, A., Gasperoni, S., Pieretti, B., Montanari, E., Carillo, C., Rossi, M. R., Laureti, A., Baldoni, M. L., Serra, D., Melioli, G., Bandettini, R., Oneto, F., Colla, R., Storchi Incerti, S., Lanzini, F., Pauri, P., Tili, E., Leone, R. A., Verdastro, G., Megha, M., Luzzaro, F., Conti, A., Busulini, L., Mirri, P., Diodati, R., Vettori, C., Pittalis, S., Anesi, A., Fiore, A., Goglia, L., Vitullo, E., Sinno, A., Platzgummer, S., Spitaler, C., Trabucchi, M. C., Besozzi, M., Cesana, E., Inghilleri, G., Grosso, S., D?angelo, R., Fogato, E., Lavarda, F., Ortisi, G., Clementi, M., Cichero, P., Rumpianesi, F., Venturelli, C., Mortillaro, F., Daffara, S., Catania, M. R., Iula, D., Andreoni, S., Politi, A., Agostinelli, C., Paparella, C., Capozzi, D., Notaris, P., Bistoni, F., Mencacci, A., Valentini, M., Filippetti, A., Confalonieri, M., Novarese, O., Bonini, F., Salamone, D., Camporese, A., De Rosa, R., Casprini, P., Degl?innocenti, R., Giordano, R., All(`u), M. T., Zanella, D., Malandrino, M., Tronci, M., Valmarin, M., Leonetti, G., Falco, S., Meledandri, M., Ballardini, M., Span(`o), A., Cava, M. C., Mascellino, M. T., Schinella, M., Gualdi, P., Casari, E., Scattolo, N., Motta, C., Perfetti, C., Bassano, M., Cera, G., Iafisco, P., Mura, I., Palmieri, A., Migliardi, M., Ferlini, M., Grandi, G., Giardini, F., Albano, F., Latino, M., Ferrero, M. P., Bellizia, L., Russolo, M., Russolo, S., Pesenti, A., Fasano, M. A., Previato, S., Radillo, O., Busetti, M., Ferrari, P., Siderini, V., Puzzolante, L., Scarparo, C., Arzese, A., Cappuccia, N., Lodolo, L., Delledonne, L., Gramoni, A., Maiolo, V., Gheller, A., Spadaro, S., Balzaretti, M., Tzialla, Chryssoula, Berardi, Alberto, Farina, Claudio, Clerici, Pierangelo, Borghesi, Alessandro, Viora, Elsa, Scollo, Paolo, Stronati, Mauro, [.., Lanari, Marcello, Faldella, Giacomo, and ]

Subjects
Male, Pediatrics, Group B, 0302 clinical medicine, Neonate, Pregnancy, Surveys and Questionnaires, Prevalence, Mass Screening, Blood culture, 030212 general & internal medicine, Antibiotic prophylaxis, Survey, GBS, Group B streptococcus, Infection, Newborn infant, Adult, Antibiotic Prophylaxis, Female, Health Surveys, Humans, Infant, Newborn, Italy, Neonatal Screening, Pregnancy Complications, Infectious, Prenatal Care, Primary Prevention, Risk Assessment, Streptococcal Infections, Streptococcus agalactiae, reproductive and urinary physiology, Group B streptococcu, medicine.diagnostic_test, lcsh:RJ1-570, Infectious, Perinatology and Child Health, Pediatrics, Perinatology and Child Health, medicine.medical_specialty, Antibiotic sensitivity, Group B Streptococcal Infection, Prenatal care, 03 medical and health sciences, 030225 pediatrics, medicine, Intensive care medicine, Mass screening, business.industry, Public health, Infant, lcsh:Pediatrics, Newborn, Pregnancy Complications, business
Abstract

Background There are no Italian data regarding the strategies for preventing neonatal group B streptococcal (GBS) infection. We conducted a national survey in order to explore obstetrical, neonatal and microbiological practices for the GBS prevention. Methods Three distinct questionnaires were sent to obstetricians, neonatologists and microbiologists. Questionnaires included data on prenatal GBS screening, maternal risk factors, intrapartum antibiotic prophylaxis, microbiological information concerning specimen processing and GBS antimicrobial susceptibility. Results All respondent obstetrical units used the culture-based screening approach to identify women who should receive intrapartum antibiotic prophylaxis, and more than half of the microbiological laboratories (58%) reported using specimen processing consistent with CDC guidelines. Most neonatal units (89 out of 107, 82%) reported using protocols for preventing GBS early-onset sepsis consistent with CDC guidelines. Conclusions The screening-based strategy is largely prevalent in Italy, and most protocols for preventing GBS early-onset sepsis are consistent with CDC guidelines. However, we found discrepancies in practices among centers that may reflect the lack of Italian guidelines issued by public health organizations.

Published
2017

24. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

Author

Bauer, C. K., Calligari, P., Radio, F. C., Caputo, V., Dentici, M. L., Falah, N., High, F., Pantaleoni, F., Barresi, S., Ciolfi, A., Pizzi, S., Bruselles, A., Person, R., Richards, S., Cho, M. T., Claps Sepulveda, D. J., Pro, S., Battini, R., Zampino, G., Digilio, M. C., Bocchinfuso, G., Dallapiccola, B., Stella, L., Tartaglia, M., Battini R., Zampino G. (ORCID:0000-0003-3865-3253), Bauer, C. K., Calligari, P., Radio, F. C., Caputo, V., Dentici, M. L., Falah, N., High, F., Pantaleoni, F., Barresi, S., Ciolfi, A., Pizzi, S., Bruselles, A., Person, R., Richards, S., Cho, M. T., Claps Sepulveda, D. J., Pro, S., Battini, R., Zampino, G., Digilio, M. C., Bocchinfuso, G., Dallapiccola, B., Stella, L., Tartaglia, M., Battini R., and Zampino G. (ORCID:0000-0003-3865-3253)

Abstract

Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac arrhythmias, endocrine dysfunction, and (more rarely) perturbed developmental processes. The K+ channel subfamily K member 4 (KCNK4), also known as TRAAK (TWIK-related arachidonic acid-stimulated K+ channel), belongs to the mechano-gated ion channels of the TRAAK/TREK subfamily of two-pore-domain (K2P) K+ channels. While K2P channels are well known to contribute to the resting membrane potential and cellular excitability, their involvement in pathophysiological processes remains largely uncharacterized. We report that de novo missense mutations in KCNK4 cause a recognizable syndrome with a distinctive facial gestalt, for which we propose the acronym FHEIG (facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, and gingival overgrowth). Patch-clamp analyses documented a significant gain of function of the identified KCNK4 channel mutants basally and impaired sensitivity to mechanical stimulation and arachidonic acid. Co-expression experiments indicated a dominant behavior of the disease-causing mutations. Molecular dynamics simulations consistently indicated that mutations favor sealing of the lateral intramembrane fenestration that has been proposed to negatively control K+ flow by allowing lipid access to the central cavity of the channel. Overall, our findings illustrate the pleiotropic effect of dysregulated KCNK4 function and provide support to the hypothesis of a gating mechanism based on the lateral fenestrations of K2P channels.

Published
2018

25. PIXE-alpha non-destructive and in situ compositional investigation of black gloss on ancient pottery

Author

Pappalardo L., Barresi S., Biondi G., Caliri C., Caruso F., Catalano R., Lamagna G., Manenti A.M., Monterosso G., Orlando A., Rizzo F., Romano F.P., and Santos H.C.

Subjects
Archeology, Attik, Pottery, pigments, non destructive, Sicilian red figure vases, PIXE, Sicilian red figure vases, non destructive, PIXE, pigments, slip paints, Black Gloss, slip paints
Abstract

The chemical characterization of the black gloss on ancient pottery is, since several years, the object of different scientific investigations. Among the different typologies of black gloss, the Attic one is the most refined, because it is prepared by using a fine suspension of an illitic clay applied on the surface of the clay body so that, after an oxiding-reducing-oxiding firing cycle at high temperature (800-950 degrees C), it reaches the typical shiny black aspect. Red figure vases were largely produced in South Italy often reaching a high artistic level. This is the case of the Sicilian red figure vases, sometimes called Sicelioti', whose production began in Sicily around the end of the fifth century BC and continued until the beginning of the third century BC. The aim of this work is to submit and compare a selection of data related to the chemical composition of the surface black gloss of some Attic and Sicilian red figure vases: This has been investigated, and a chemical-based discrimination has been proposed. The non-destructive particle-induced X-ray emission-alpha portable spectrometer was used. The results, carried out in situ at the Paolo Orsi' Archaeological Museum in Syracuse (Sicily), together with the ones recently obtained in similar analyses at the Archaeological Museum of Catania University, confirmed the compositional stability of Attic vase black gloss and indicated that in a well-defined time period, the chemical composition of the Sicilian black gloss decorations is very stable and superimposable with that of the contemporary Attic artifacts. Copyright (c) 2016 John Wiley & Sons, Ltd.

Published
2016
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26. Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions

Author

Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian CBCD Study Group, Bertini, E, Dallapiccola, B, Collaborators: Arrigoni F, Valente E. M., Borgatti, R, Romaniello, R, Accorsi, P, Fazzi, E, Giordano, L, Pinelli, L, Biancheri, R, Mirabelli, M, Rossi, A, Briguglio, M, Tortorella, G, Chiapparini, L, D' Arrigo, S, Moroni, I, Pantaleoni, C, Spaccini, L, Uziel, G, D' Amico, A, Del Giudice, E, Pichiecchio, A, Signorini, S, Battini, R, Casarani, M, Colafati, S, Digilio, Mc, Leuzzi, V, Micalizzi, A, Romani, M, Spalice, A, Vitiello, G, Cirillo, Margherita, Simonati, A., Ferraris, A, Bernardini, L, Sabolic Avramovska, V, Zanni, G, Loddo, S, Sukarova Angelovska, E, Parisi, V, Capalbo, A, Tumini, S, Travaglini, L, Mancini, F, Duma, F, Barresi, S, Novelli, A, Mercuri, E, Tarani, L, Italian, CBCD Study Group, and DEL GIUDICE, Ennio

Subjects
Dandy-Walker malformation, Wisconsin syndrome, 3q deletion, ZIC1-ZIC4 genes, Hemizygosity, 0302 clinical medicine, Dandy–Walker syndrome, Ptosis, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), Genetics, 0303 health sciences, 030305 genetics & heredity, Zinc Fingers, General Medicine, Single Nucleotide, Penetrance, Phenotype, Child, Preschool, Pair 3, Female, Chromosomes, Human, Pair 3, medicine.symptom, Chromosome Deletion, zic1-zic4 genes, Human, Adult, wisconsin syndrome, dandy-walker malformation, Biology, ZIC1, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Young Adult, Wisconsin, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, medicine, Humans, Polymorphism, Preschool, Genetic Association Studies, Research, medicine.disease, Blepharophimosis, Human genetics, Face, Dandy-Walker Syndrome, 030217 neurology & neurosurgery, Transcription Factors
Abstract

Background The Dandy-Walker malformation (DWM) is one of the commonest congenital cerebellar defects, and can be associated with multiple congenital anomalies and chromosomal syndromes. The occurrence of overlapping 3q deletions including the ZIC1 and ZIC4 genes in few patients, along with data from mouse models, have implicated both genes in the pathogenesis of DWM. Methods and results Using a SNP-array approach, we recently identified three novel patients carrying heterozygous 3q deletions encompassing ZIC1 and ZIC4. Magnetic resonance imaging showed that only two had a typical DWM, while the third did not present any defect of the DWM spectrum. SNP-array analysis in further eleven children diagnosed with DWM failed to identify deletions of ZIC1-ZIC4. The clinical phenotype of the three 3q deleted patients included multiple congenital anomalies and peculiar facial appearance, related to the localization and extension of each deletion. In particular, phenotypes resulted from the variable combination of three recognizable patterns: DWM (with incomplete penetrance); blepharophimosis, ptosis, and epicanthus inversus syndrome; and Wisconsin syndrome (WS), recently mapped to 3q. Conclusions Our data indicate that the 3q deletion is a rare defect associated with DWM, and suggest that the hemizygosity of ZIC1-ZIC4 genes is neither necessary nor sufficient per se to cause this condition. Furthermore, based on a detailed comparison of clinical features and molecular data from 3q deleted patients, we propose clinical diagnostic criteria and refine the critical region for WS.

Published
2013

27. CHK1-targeted therapy to deplete DNA replication- stressed, p53-deficient, hyperdiploid colorectal cancer stem cells

Author

Manic, G, Signore, M, Sistigu, Antonella, Russo, Giorgio, Corradi, F, Siteni, S, Musella, Marco, Vitale, Sara, De Angelis, Maria Laura, Pallocca, M, Amoreo, Ca, Sperati, F, Di Franco, S, Barresi, S, Policicchio, E, De Luca, G, De Nicola, F, Mottolese, M, Zeuner, A, Fanciulli, M, Stassi, G, Maugeri-Saccà, M, Baiocchi, M, Tartaglia, Marco, Vitale, Ilio, De Maria Marchiano, Ruggero, Sistigu A (ORCID:0000-0002-2528-1238), Russo G, Musella M, Vitale S, De Angelis ML, Tartaglia M, Vitale I, De Maria Marchiano (ORCID:0000-0003-2255-0583), Manic, G, Signore, M, Sistigu, Antonella, Russo, Giorgio, Corradi, F, Siteni, S, Musella, Marco, Vitale, Sara, De Angelis, Maria Laura, Pallocca, M, Amoreo, Ca, Sperati, F, Di Franco, S, Barresi, S, Policicchio, E, De Luca, G, De Nicola, F, Mottolese, M, Zeuner, A, Fanciulli, M, Stassi, G, Maugeri-Saccà, M, Baiocchi, M, Tartaglia, Marco, Vitale, Ilio, De Maria Marchiano, Ruggero, Sistigu A (ORCID:0000-0002-2528-1238), Russo G, Musella M, Vitale S, De Angelis ML, Tartaglia M, Vitale I, and De Maria Marchiano (ORCID:0000-0003-2255-0583)

Abstract

Objective Cancer stem cells (CSCs) are responsible for tumour formation and spreading, and their targeting is required for tumour eradication. There are limited therapeutic options for advanced colorectal cancer (CRC), particularly for tumours carrying RAS-activating mutations. The aim of this study was to identify novel CSC-targeting strategies. Design To discover potential therapeutics to be clinically investigated as single agent, we performed a screening with a panel of FDA-approved or investigational drugs on primary CRC cells enriched for CSCs (CRC-SCs) isolated from 27 patients. Candidate predictive biomarkers of efficacy were identified by integrating genomic, reverse-phase protein microarray (RPPA) and cytogenetic analyses, and validated by immunostainings. DNA replication stress (RS) was increased by employing DNA replication-perturbing or polyploidising agents. Results The drug-library screening led to the identification of LY2606368 as a potent anti-CSC agent acting in vitro and in vivo in tumour cells from a considerable number of patients (∼36%). By inhibiting checkpoint kinase (CHK)1, LY2606368 affected DNA replication in most CRC-SCs, including RAS-mutated ones, forcing them into premature, lethal mitoses. Parallel genomic, RPPA and cytogenetic analyses indicated that CRC-SCs sensitive to LY2606368 displayed signs of ongoing RS response, including the phosphorylation of RPA32 and ataxia telangiectasia mutated serine/threonine kinase (ATM). This was associated with mutation(s) in TP53 and hyperdiploidy, and made these CRC-SCs exquisitely dependent on CHK1 function. Accordingly, experimental increase of RS sensitised resistant CRC-SCs to LY2606368. Conclusions LY2606368 selectively eliminates replication-stressed, p53-deficient and hyperdiploid CRC-SCs independently of RAS mutational status. These results provide a strong rationale for biomarker-driven clinical trials with LY2606368 in patients with CRC.

Published
2017

34. Distal spinal muscular atrophy and ataxia with cerebellar atrophy in two unrelated patients; a new phenotypic variant of HRD and recessive KCS syndrome related to TBCE

Author

Bertini, E., primary, Sferra, A., additional, Rizza, T., additional, Tasca, G., additional, D'Amico, A., additional, Zanni, G., additional, Barresi, S., additional, Diodato, D., additional, Piermarini, E., additional, Martinelli, D., additional, Dionisi-Vici, C., additional, Niceta, M., additional, Dallapiccola, B., additional, Tartaglia, M., additional, and Compagnucci, C., additional

Published
2015
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36. Migratory, and not lymphoid-resident, dendritic cells maintain peripheral self-tolerance and prevent autoimmunity via induction of iTreg cells

Author

Vitali, C, Mingozzi, F, Broggi, A, Barresi, S, Zolezzi, F, Bayry, J, Raimondi, G, Zanoni, I, Granucci, F, VITALI, CATERINA, MINGOZZI, FRANCESCA, BROGGI, ACHILLE, BARRESI, SIMONA, RAIMONDI, GIORGIO, ZANONI, IVAN, GRANUCCI, FRANCESCA, Vitali, C, Mingozzi, F, Broggi, A, Barresi, S, Zolezzi, F, Bayry, J, Raimondi, G, Zanoni, I, Granucci, F, VITALI, CATERINA, MINGOZZI, FRANCESCA, BROGGI, ACHILLE, BARRESI, SIMONA, RAIMONDI, GIORGIO, ZANONI, IVAN, and GRANUCCI, FRANCESCA

Abstract

There is evidence that dendritic cells (DCs) induce peripheral tolerance. Nevertheless, it is not known whether immature DCs in general are able to tolerize CD4(+) T cells or if this is a prerogative of specialized subtypes. Here we show that, when autoantigen presentation is extended to all conventional mouse DCs, immature lymphoid tissue resident DCs are unable to induce autoantigen-specific regulatory T (iTreg) cell conversion. In contrast, this is an exclusive prerogative of steady-state migratory DCs. Because only lymph nodes host migratory DCs, iTreg cells develop and are retained solely in lymph nodes, and not in the spleen. Mechanistically, in cutaneous lymph nodes, DC-derived CCL22 contributes to the retention of iTreg cells. The importance of the local generation of iTreg cells is emphasized by their essential role in preventing autoimmunity

Published
2012

37. CD14 and NFAT mediate lipopolysaccharide-induced skin edema formation in mice

Author

Zanoni, I, Ostuni, R, Barresi, S, DI GIOIA, M, Broggi, A, Costa, B, Marzi, R, Granucci, F, ZANONI, IVAN, OSTUNI, RENATO, BARRESI, SIMONA, DI GIOIA, MARCO, BROGGI, ACHILLE, COSTA, BARBARA SIMONA, MARZI, ROBERTA, GRANUCCI, FRANCESCA, Zanoni, I, Ostuni, R, Barresi, S, DI GIOIA, M, Broggi, A, Costa, B, Marzi, R, Granucci, F, ZANONI, IVAN, OSTUNI, RENATO, BARRESI, SIMONA, DI GIOIA, MARCO, BROGGI, ACHILLE, COSTA, BARBARA SIMONA, MARZI, ROBERTA, and GRANUCCI, FRANCESCA

Abstract

Inflammation is a multistep process triggered when innate immune cells - for example, DCs - sense a pathogen or injured cell or tissue. Edema formation is one of the first steps in the inflammatory response; it is fundamental for the local accumulation of inflammatory mediators. Injection of LPS into the skin provides a model for studying the mechanisms of inflammation and edema formation. While it is known that innate immune recognition of LPS leads to activation of numerous transcriptional activators, including nuclear factor of activated T cells (NFAT) isoforms, the molecular pathways that lead to edema formation have not been determined. As PGE2 regulates many proinflammatory processes, including swelling and pain, and it is induced by LPS, we hypothesized that PGE2 mediates the local generation of edema following LPS exposure. Here, we show that tissue-resident DCs are the main source of PGE2 and the main controllers of tissue edema formation in a mouse model of LPS-induced inflammation. LPS exposure induced expression of microsomal PGE synthase-1 (mPGES-1), a key enzyme in PGE2 biosynthesis. mPGES-1 activation, PGE2 production, and edema formation required CD14 (a component of the LPS receptor) and NFAT. Therefore, tissue edema formation induced by LPS is DC and CD14/NFAT dependent. Moreover, DCs can regulate free antigen arrival at the draining lymph nodes by controlling edema formation and interstitial fluid pressure in the presence of LPS. We therefore suggest that the CD14/NFAT/mPGES-1 pathway represents a possible target for antiinflammatory therapies

Published
2012

38. FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion

Author

Zanni, G, Barresi, S, Travaglini, L, Bernardini, Lucia, Rizza, T, Digilio, Mc, Mercuri, Eugenio Maria, Cianfarani, S, Valeriani, Massimiliano, Ferraris, A, Da Sacco, L, Novelli, Andrea, Valente, Em, Dallapiccola, B, Bertini, Es, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Zanni, G, Barresi, S, Travaglini, L, Bernardini, Lucia, Rizza, T, Digilio, Mc, Mercuri, Eugenio Maria, Cianfarani, S, Valeriani, Massimiliano, Ferraris, A, Da Sacco, L, Novelli, Andrea, Valente, Em, Dallapiccola, B, Bertini, Es, and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

Fibroblast growth factors (FGFs) are important signaling molecules which act during early vertebrate central nervous system development. FGF17, together with FGF8, is a key factor in the patterning of the mid-hindbrain region with a complex picture of spatiotemporal gene expression during the various stages of cerebellar development. Disruption or reduced expression of fgf17 in mice has been associated with cerebellar vermis abnormalities. We have identified a de novo 2.3-Mb deletion of chromosome 8p21.2-p21.3 in a girl with severe growth retardation, seizures, and classical Dandy-Walker malformation. Analysis of gene expression in blood lymphocytes and skin fibroblasts revealed markedly reduced levels of FGF17, which is located 1 Mb from the proximal deletion breakpoint. This is the first report of a human cerebellar malformation associated with transcriptional downregulation of the FGF17 gene.

Published
2011

40. PIXE-alpha non-destructive and in situ compositional investigation of black gloss on ancient pottery.

Author

Pappalardo, L., Barresi, S., Biondi, G., Caliri, C., Caruso, F., Catalano, R., Lamagna, G., Manenti, G. A., Monterosso, G., Orlando, A., Rizzo, F., Romano, F.P., and Santos, H.C.

Subjects
BLACK-gloss ware, ANALYSIS of pottery, OXIDATION-reduction potential, OXIDATION-reduction reaction, ANCIENT pottery
Abstract

The chemical characterization of the black gloss on ancient pottery is, since several years, the object of different scientific investigations. Among the different typologies of black gloss, the Attic one is the most refined, because it is prepared by using a fine suspension of an illitic clay applied on the surface of the clay body so that, after an oxiding-reducing-oxiding firing cycle at high temperature (800-950°C), it reaches the typical shiny black aspect. Red figure vases were largely produced in South Italy often reaching a high artistic level. This is the case of the Sicilian red figure vases, sometimes called 'Sicelioti', whose production began in Sicily around the end of the fifth century BC and continued until the beginning of the third century BC. The aimof this work is to submit and compare a selection of data related to the chemical composition of the surface black gloss of some Attic and Sicilian red figure vases: This has been investigated, and a chemical-based discrimination has been proposed. The non-destructive particle-induced X-ray emission-alpha portable spectrometer was used. The results, carried out in situ at the 'Paolo Orsi' Archaeological Museum in Syracuse (Sicily), together with the ones recently obtained in similar analyses at the Archaeological Museum of Catania University, confirmed the compositional stability of Attic vase black gloss and indicated that in a well-defined time period, the chemical composition of the Sicilian black gloss decorations is very stable and superimposable with that of the contemporary Attic artifacts. [ABSTRACT FROM AUTHOR]

Published
2016
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