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2. Recruitment-to-inflation ratio reflects the impact of peep on dynamic lung strain in a highly recruitable model of ARDS

Author

Francesco Murgolo, Domenico L. Grieco, Savino Spadaro, Nicola Bartolomeo, Rossella di Mussi, Luigi Pisani, Marco Fiorentino, Alberto Maria Crovace, Luca Lacitignola, Francesco Staffieri, and Salvatore Grasso

Subjects
Acute respiratory distress syndrome, Mechanical ventilation, Recruitment-to-inflation ratio, Lung recruitment, Dynamic lung strain, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Abstract Background The recruitment-to-inflation ratio (R/I) has been recently proposed to bedside assess response to PEEP. The impact of PEEP on ventilator-induced lung injury depends on the extent of dynamic strain reduction. We hypothesized that R/I may reflect the potential for lung recruitment (i.e. recruitability) and, consequently, estimate the impact of PEEP on dynamic lung strain, both assessed through computed tomography scan. Methods Fourteen lung-damaged pigs (lipopolysaccharide infusion) underwent ventilation at low (5 cmH2O) and high PEEP (i.e., PEEP generating a plateau pressure of 28–30 cmH2O). R/I was measured through a one-breath derecruitment maneuver from high to low PEEP. PEEP-induced changes in dynamic lung strain, difference in nonaerated lung tissue weight (tissue recruitment) and amount of gas entering previously nonaerated lung units (gas recruitment) were assessed through computed tomography scan. Tissue and gas recruitment were normalized to the weight and gas volume of previously ventilated lung areas at low PEEP (normalized-tissue recruitment and normalized-gas recruitment, respectively). Results Between high (median [interquartile range] 20 cmH2O [18–21]) and low PEEP, median R/I was 1.08 [0.88–1.82], indicating high lung recruitability. Compared to low PEEP, tissue and gas recruitment at high PEEP were 246 g [182–288] and 385 ml [318–668], respectively. R/I was linearly related to normalized-gas recruitment (r = 0.90; [95% CI 0.71 to 0.97) and normalized-tissue recruitment (r = 0.69; [95% CI 0.25 to 0.89]). Dynamic lung strain was 0.37 [0.29–0.44] at high PEEP and 0.59 [0.46–0.80] at low PEEP (p

Published
2024
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3. Neovascular Glaucoma as a Predictor of Retinoblastoma High-Risk Histopathology in an International Multicentre Study

Author

Negretti, Guy S., Ushakova, Tatiana, Yuri, Serov, Vladimir, Polyakov, Berry, Jesse L., Pike, Sarah, Shields, Carol L., Hubbard, G. Baker, III, Eiger-Moscovich, Maya, Pe’er, Jacob, Staffieri, Sandra E., Elder, James E., McKenzie, John D., Ahmad, Alia, Hussain, Mahvish, Casavilca-Zambrano, Sandro, Alarcon-Leon, Sandra, Yousef, Yacoub A, Mohammad, Mona, Tanabe, Mika, Arazi, Mattan, Fabian, Ido Didi, Goldstein, Samuel, Kaliki, Swathi, Sagoo, Mandeep S., and Reddy, M. Ashwin

Published
2024
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4. Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Author

Tenney, Alan P, Di Gioia, Silvio Alessandro, Webb, Bryn D, Chan, Wai-Man, de Boer, Elke, Garnai, Sarah J, Barry, Brenda J, Ray, Tammy, Kosicki, Michael, Robson, Caroline D, Zhang, Zhongyang, Collins, Thomas E, Gelber, Alon, Pratt, Brandon M, Fujiwara, Yuko, Varshney, Arushi, Lek, Monkol, Warburton, Peter E, Van Ryzin, Carol, Lehky, Tanya J, Zalewski, Christopher, King, Kelly A, Brewer, Carmen C, Thurm, Audrey, Snow, Joseph, Facio, Flavia M, Narisu, Narisu, Bonnycastle, Lori L, Swift, Amy, Chines, Peter S, Bell, Jessica L, Mohan, Suresh, Whitman, Mary C, Staffieri, Sandra E, Elder, James E, Demer, Joseph L, Torres, Alcy, Rachid, Elza, Al-Haddad, Christiane, Boustany, Rose-Mary, Mackey, David A, Brady, Angela F, Fenollar-Cortés, María, Fradin, Melanie, Kleefstra, Tjitske, Padberg, George W, Raskin, Salmo, Sato, Mario Teruo, Orkin, Stuart H, Parker, Stephen CJ, Hadlock, Tessa A, Vissers, Lisenka ELM, van Bokhoven, Hans, Jabs, Ethylin Wang, Collins, Francis S, Pennacchio, Len A, Manoli, Irini, and Engle, Elizabeth C

Subjects
Biological Sciences, Genetics, 2.1 Biological and endogenous factors, Animals, Mice, Facial Paralysis, GATA2 Transcription Factor, Motor Neurons, Neurogenesis, Neurons, Efferent, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs. Gata2 and its effector Gata3 are essential for inner-ear efferent neuron (IEE) but not FBMN development. A humanized HCFP1 mouse model extends Gata2 expression, favors the formation of IEEs over FBMNs and is rescued by conditional loss of Gata3. These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease.

Published
2023

6. Retinoblastoma with and without Extraocular Tumor Extension

Author

Swathi Kaliki, MD, Vijitha S. Vempuluru, MD, Ido Didi Fabian, MD, Elhassan Abdallah, MD, Shehu U. Abdullahi, MD, Rula A. Abdulqader, MD, Aminatu A. Abdulrahaman, MD, Sherif Abouelnaga, MD, Dupe S. Ademola-Popoola, FMCOph, FWACS, Adedayo Adio, FWACS, Mahmoud A. Afifi, MD, Armin R. Afshar, MD, Priyanka Aggarwal, MD, Ada E. Aghaji, FMCOph MSc, Alia Ahmad, MRCPCH UK, Marliyanti N.R. Akib, MD, Adeseye M. Akinsete, MBBS, Lamis Al Harby, MD, Saleh A. Al Mesfer, MD, Mouroge H. Al Ani, MD, Silvia Alarcón Portabella, MD, Safaa A.F. Al-Badri, MD, Ana Patricia A. Alcasabas, MD, Saad A. Al-Dahmash, MD, Amanda Alejos, MD, Ernesto Alemany-Rubio, MD, Amadou I. Alfa Bio, MD, Yvania Alfonso Carreras, MD, Christiane E. Al-Haddad, MD, Hamoud H.Y. Al-Hussaini, MD, MSc, Amany M. Ali, MD, Donjeta B. Alia, MD, Mazin F. Al-Jadiry, MD, Usama Al-Jumaly, MD, Hind M. Alkatan, MD, Charlotta All-Eriksson, MD, PhD, Ali A.R.M. Al-Mafrachi, FIBMS, Argentino A. Almeida, MD, Khalifa M. Alsawidi, MD, Athar A.S.M. Al-Shaheen, MD, Entissar H. Al-Shammary, MD, Doreen Amankwaa-Frempong, MBChB, Primawita O. Amiruddin, MD, Inggar Armytasari, MD, Nicholas J. Astbury, FRCS, FRCOphth, Hatice T. Atalay, MD, Eda Ataseven, MD, La-ongsri Atchaneeyasakul, MD, Rose Atsiaya, OCO, Rudolf Autrata, MD, PhD, Julia Balaguer, MD, PhD, Ruhengiz Balayeva, PhD, Honorio Barranco, MD, PhD, Paulina Bartoszek, MD, Katarina Bartuma, MD, PhD, Covadonga Bascaran, MD, MSc, Nikolaos E. Bechrakis, MD, Maja Beck Popovic, MD, Ainura S. Begimkulova, MD, Sarra Benmiloud, MD, Rokia C. Berete, MD, PhD, Jesse L. Berry, MD, Anirban Bhaduri, MD, Sunil Bhat, MBBS, MD, Arpita Bhattacharyya, MD, Eva M. Biewald, MD, Elaine Binkley, MD, Sharon Blum, MD, Nadia Bobrova, MD, H. Culver Boldt, MD, Maria Teresa B.C. Bonanomi, MD, PhD, Gabrielle C. Bouda, MD, Hédi Bouguila, MD, PhD, Rachel C. Brennan, MD, Bénédicte G. Brichard, MD, PhD, Jassada Buaboonnam, MD, Aléine Budiongo, MD, Matthew Burton, FRCOphth, Patricia Calderón-Sotelo, MD, Doris A. Calle Jara, MD, Jayne E. Camuglia, FRANZCO, Miriam R. Cano, MD, MSc, Michael Capra, FRCPI, Shani Caspi, MD, Nathalie Cassoux, MD, PhD, Guilherme Castela, MD, Luis Castillo, MD, Jaume Català-Mora, MD, PhD, Isabel Caviedes, MD, Arthika Chandramohan, MD, Guillermo L. Chantada, MD, PhD, Shabana Chaudhry, MD, Bhavna Chawla, MD, Wensi Chen, MD, Faraja S. Chiwanga, MSc, Tsengelmaa Chuluunbat, MD, PhD, Krzysztof Cieslik, MD, Antony Clark, FRANZCO, Ruellyn L. Cockcroft, MB ChB , M Med Paed, Codruta Comsa, MD, Maria G. Correa Llano, MD, Timothy W. Corson, PhD, Line Couitchere, MD, Kristin E. Cowan-Lyn, MD, MBBS, Monika Csóka, MD, PhD, Wantanee Dangboon, MD, Anirban Das, MD, Pranab Das, MD, Sima Das, MS, Jacquelyn M. Davanzo, BSN, BSPH, Alan Davidson, MBChB, MPhil, Sonia De Francesco, MD, Patrick De Potter, MD, PhD, Karina Q. Delgado, MD, PhD, Hakan Demirci, MD, Laurence Desjardins, MD, Rosdali Y. Diaz Coronado, MD, Helen Dimaras, PhD, Andrew J. Dodgshun, M Phil, Carla R. Donato Macedo, MD, Monica D. Dragomir, MD, PhD, Yi Du, MD, Magritha Du Bruyn, MD, Johannes P. Du Plessis, MMed (Paed), Gagan Dudeja, MBBS, MS, Katrin Eerme, MD, I Wayan Eka Sutyawan, MD, Asmaa El Kettani, MD, Amal M. Elbahi, MD, James E. Elder, MBBS, Alaa M. Elhaddad, MD, PhD, Moawia M.A. Elhassan, MD, Mahmoud M. Elzembely, MD, Connor Ericksen, MD, Vera A. Essuman, FWACS, Ted Grimbert A. Evina, MD, Ifeoma R. Ezegwui, FMCOph, FWACS, FAEH, Zehra Fadoo, MBBS, Adriana C. Fandiño, MD, Mohammad Faranoush, MD, Oluyemi Fasina, FWACS, Delia D.P.G. Fernández, MSc, Ana Fernández-Teijeiro, MD, PhD, Allen Foster, FRCOphth, Shahar Frenkel, MD, PhD, Ligia D. Fu, MD, Soad L. Fuentes-Alabi, MD, MPH, Juan L. Garcia, MSc, David García Aldana, MD, Henry N. Garcia Pacheco, MD, Jennifer A. Geel, MBChB, MMed, Fariba Ghassemi, MD, Ana V. Girón, MD, Marco A. Goenz, MD, Aaron S. Gold, OD, Hila Golberg, MD, Glen A. Gole, MD, FRANZCO, Nir Gomel, MD, Efren Gonzalez, MD, Graciela Gonzalez Perez, MD, Liudmira González-Rodríguez, MD, Malka Gorfine, PhD, Jaime Graells, MD, Pernille A. Gregersen, MD, Nathalia D.A.K. Grigorovski, MD, Koffi M. Guedenon, MD, D Sanjeeva Gunasekera, MD, Ahmet K. Gündüz, MD, Himika Gupta, MD, Sanjiv Gupta, MS, Vineeta Gupta, MD, Theodora Hadjistilianou, MD, Patrick Hamel, MD, Syed A. Hamid, FCPS, Norhafizah Hamzah, MSc, Eric D. Hansen, MD, J William Harbour, MD, M. Elizabeth Hartnett, MD, Murat Hasanreisoglu, MD, Sadiq Hassan, MD, FWACS, Shadab Hassan, FRCS, FCPS, Wojciech Hautz, MD, Huda A. Haydar, CHD, Stanislava Hederova, MD, Laila Hessissen, MD, Hoby Lalaina, MD, Suradej Hongeng, MD, Diriba F. Hordofa, MD, G. Baker Hubbard, MD, Marlies Hummlen, MD, Kristina Husakova, MD, Allawi N. Hussein Al-Janabi, MD, Affiong A. Ibanga, MB.BCh, FMCOph, Russo Ida, MD, Vesna R. Ilic, MD, Ziyavuddin Islamov, MD, Vivekaraj Jairaj, DNB, Teyyeb A. Janjua, MD, FCPS, FRCSEd, Irfan Jeeva, FRCOphth, Xunda Ji, MD, Dong Hyun Jo, MD, PhD, Michael M. Jones, MD, PhD, FRANZCO, Theophile B. Amani Kabesha, MD, PhD, Rolande L. Kabore, MD, Abubakar Kalinaki, MD, Pius Kamsang, MD, Mehmet Kantar, MD, Noa Kapelushnik, MD, Tamar Kardava, PhD, Rejin Kebudi, MD, Jonny Keomisy, MD, Tomas Kepak, MD, Petra Ketteler, MD, Zohora J. Khan, MD, Hussain A. Khaqan, MD, Vikas Khetan, FRCS, FACS, Alireza Khodabande, MD, Zaza Khotenashvili, MD, Jonathan W. Kim, MD, Jeong Hun Kim, MD, PhD, Hayyam Kiratli, MD, Tero T. Kivelä, MD, Artur Klett, MD, PhD, Irem Koç, MD, Jess Elio Kosh Komba Palet, MD, Dalia Krivaitiene, MD, PhD, Mariana Kruger, Mmed Paed, PhD, Kittisak Kulvichit, MD, Mayasari W. Kuntorini, MD, Alice Kyara, BA, Geoffrey C. Lam, FRANZCO, Scott A. Larson, MD, Slobodanka Latinović, MD, PhD, Kelly D. Laurenti, MD, Yotam Lavi, MD, PhD, Alenka Lavric Groznik, MD, Amy A. Leverant, MD, Cairui Li, MD, Kaijun Li, MD, Ben Limbu, MD, Chun-Hsiu Liu, MD, Quah Boon Long, FRCS (Ed), MMed ( Ophth), FAMS, Juan P. López, MD, Robert M. Lukamba, MD, Sandra Luna-Fineman, MD, Delfitri Lutfi, MD, Lesia Lysytsia, MD, Shiran Madgar, MD, George N. Magrath, MD, Amita Mahajan, MD, Puja Maitra, MD, Erika Maka, MD, Emil K. Makimbetov, MD, Azza M.Y. Maktabi, MD, Carlos Maldonado, MD, Ashwin Mallipatna, MD, Rebecca Manudhane, MD, Lyazat Manzhuova, MD, Nieves Martín Begue, MD, PhD, Sidra Masud, MBBS, Ibrahim O. Matende, MD, M. Med (Oph), Clarissa C.D.S. Mattosinho, MD, Marchelo Matua, BAPH, Ismail Mayet, MD, Freddy B. Mbumba, MD, MMed Paed, John D. McKenzie, MD, Azim Mehrvar, MD, Aemero A. Mengesha, MD, Vikas Menon, MD, Gary John V.D.D. Mercado, MD, Marilyn B. Mets, MD, Edoardo Midena, MD, PhD, Audra Miller, MD, Divyansh K.C. Mishra, DNB, Furahini G. Mndeme, MD, Ahmed A. Mohamedani, FRCPath, Mona T. Mohammad, MD, FRCS, Annette C. Moll, MD, PhD, Margarita M. Montero, MD, Claude Moreira, MD, PhD, Prithvi Mruthyunjaya, MD, MHS, Mchikirwa S. Msina, MMed Ophth, Gerald Msukwa, MMed Ophth, Sangeeta S. Mudaliar, DNB Pediatric, Hassan Muhammad, MD, Kangwa I. Muma, MMed Ophth, FCOphth, Francis L. Munier, MD, Timothy G. Murray, MD, MBA, Kareem O. Musa, FWACS, FMCOphth, FICO, Asma Mushtaq, MD, Anne A. Musika, MD, Hamzah Mustak, MD, Tajudeen Mustapha, MBBS, FWACS, Okwen M. Muyen, MD, Khumo H. Myezo, Msc, Gita Naidu, MMed Paed, PhD, Natasha Naidu, MBCHB, FCS Ophthalmol, Akshay Gopinathan Nair, MD, Sundaram Natarajan, FRCS, Larisa Naumenko, MD, PhD, Paule Aïda Ndoye Roth, MD PhD, Yetty M. Nency, MD, Vladimir Neroev, MD, PhD, Yvonne Ng, MBChB ( Auckland) , FRANZCO, Marina Nikitovic, MD, PhD, Elizabeth D. Nkanga, FMCOph, Henry E. Nkumbe, MD, Marcel N. Numbi, MD, Kalle Nummi, MD, Murtuza Nuruddin, FRCS, Mutale Nyaywa, MD, MMed Ophth, FCOphth, Chinsisi Nyirenda, MD, Ghislaine Obono-Obiang, MD, Scott C.N. Oliver, MD, Joaquin Ooporto, MD, Miriam Ortega-Hernández, MD, Alexander Oscar, MD, Diego Ossandon, MD, Halimah Pagarra, MD, PhD, Vivian Paintsil, FWACP, Luisa Paiva, MD, Mahesh Shanmugam Palanivelu, FRCSED, Ruzanna Papyan, MD, Raffaele Parrozzani, MD, PhD, Claudia R. Pascual Morales, MD, Katherine E. Paton, MD, FRCSC, Jacob Pe'er, MD, Jesús Peralta Calvo, MD, Sanja Perić, MD, PhD, Chau T.M. Pham, MD, Remezo Philbert, MD, David A. Plager, MD, Pavel Pochop, MD, PhD, Rodrigo A. Polania, MD, Vladimir Polyakov, MD, Jimena Ponce, MD, Ali O. Qadir, MD, Seema Qayyum, FCPS, Jiang Qian, MD, Ardizal Rahman, MD, Purnima Rajkarnikar, MD, Rajesh Ramanjulu, MD, Aparna Ramasubramanian, MD, Marco A. Ramirez-Ortiz, MD, MPH, Jasmeen K. Randhawa, BA, Léa Raobela, MD, Riffat Rashid, MS, M. Ashwin Reddy, FRCOphth, Lorna A. Renner, FRCPCH (UK), David Reynders, MD, Dahiru Ribadu, FMCOph, Petra Ritter-Sovinz, MD, Anna Rogowska, MD, Duangnate Rojanaporn, MD, Livia Romero, MD, Soma R. Roy, DCO, Raya H. Saab, MD, Svetlana Saakyan, MD, PhD, Ahmed H. Sabhan, MD, Mandeep S. Sagoo, FRCS (Ed), Azza M.A. Said, MD, Rohit Saiju, MD, Beatriz Salas, MD, Sonsoles San Román Pacheco, MD, Gissela L. Sánchez, MD, Alma Janeth Sanchez Orozco, MD, Phayvanh Sayalith, MD, Trish A. Scanlan, MRCPI, MSc, Christoph Schwab, MD, Ahad Sedaghat, MD, Rachna Seth, DNB MNAMS, Mariana Sgroi, MD, Ankoor S. Shah, MD, PhD, Shawkat A. Shakoor, MS, Manoj K. Sharma, MD, Sadik T. Sherief, MD, Carol L. Shields, MD, David Sia, MB ChB, FRANZCO, Sorath Noorani Siddiqui, MD, Sidi Sidi cheikh, MD, PhD, Sónia Silva, MD, Arun D. Singh, MD, Usha Singh, MS, Penny Singha, MD, Rita S. Sitorus, MD, PhD, Alison H. Skalet, MD, PhD, Hendrian D. Soebagjo, MD, PhD, Tetyana Sorochynska, MD, PhD, Grace Ssali, MD, Andrew W. Stacey, MD, Sandra E. Staffieri, PhD, Erin D. Stahl, MD, David M. Steinberg, PhD, David K. Stones, MBChB, FCPaed, Caron Strahlendorf, MD, Maria Estela Coleoni Suarez, MD, Sadia Sultana, FCPS, Xiantao Sun, MD, Rosanne Superstein, MD, Eddy Supriyadi, MD, PhD, Supawan Surukrattanaskul, MD, Shigenobu Suzuki, MD, PhD, Karel Svojgr, MD, PhD, Fatoumata Sylla, MD, Gevorg Tamamyan, MD, PhD, Deborah Tan, MBBS, Alketa Tandili, MD, PhD, Jing Tang, MD, Fanny F. Tarrillo Leiva, MD, Maryam Tashvighi, MD, Bekim Tateshi, MD, PhD, Kok Hoi Teh, MD, Edi S. Tehuteru, MD, Luiz F. Teixeira, MD, Manca Tekavcic Pompe, MD, PhD, Abdullah Dahan M. Thawaba, MD, Tuyisabe Theophile, MSc, Helen Toledano, MBChB, Doan L. Trang, MD, Fousseyni Traoré, MD, Devjyoti Tripathy, MD, Samuray Tuncer, MD, Harba Tyau-Tyau, MD, Ali B. Umar, MD, FMCPath, Emel Unal, MD, Ogul E. Uner, BA, Steen F. Urbak, MD, PhD, Tatiana L. Ushakova, MD, Rustam H. Usmanov, MD, Sandra Valeina, MD, Paola Valente, MD, Milo van Hoefen Wijsard, MD, Jacqueline Karina Vasquez Anchaya, MD, Leon O. Vaughan, FRCS (Ed), Nevyana V. Veleva-Krasteva, MD, PhD, Nishant Verma, MD, Andi A. Victor, MD, PhD, Maris Viksnins, MD, Edwin G. Villacís Chafla, MD, Victor M. Villegas, MD, Victoria Vishnevskia-Dai, MD, Keith Waddell, DM, FRCP, FRCS, FRCOphth, Amina H. Wali, MD, FMCOph Nigeria, Yi-Zhuo Wang, MD, Nutsuchar Wangtiraumnuay, MD, FICO, Julie A. Wetter, MMed Rad Onc, FCRad Onc, Widiarti P. Riono, MD, Matthew W. Wilson, MD, Amelia D.C. Wime, MD, Atchareeya Wiwatwongwana, MD, Damrong Wiwatwongwana, MD, Charlotte Wolley Dod, MD, Emily S. Wong, FCOphth HK, FHKAM, Phanthipha Wongwai, MD, PhD, Si-qi Wu, MSc, Daoman Xiang, MD, PhD, Yishuang Xiao, MSc, Bing Xu, MD, Kang Xue, MD, Antonio Yaghy, MD, Jason C. Yam, FRCSEd, Huasheng Yang, MD, Jenny M. Yanga, MD, Muhammad A. Yaqub, MD, FCPS, FRCSEd, Vera A. Yarovaya, MD, Andrey A. Yarovoy, MD, PhD, Huijing Ye, MD, Roberto I. Yee, MD, Yacoub A. Yousef, MD, Putu Yuliawati, MD, Arturo M. López, MD, Ekhtelbenina Zein, MD, Yi Zhang, MD, PhD, Katsiaryna Zhilyaeva, MD, Nida Zia, MBBS, MCPS, Othman A.O. Ziko, MD, PhD, Marcia Zondervan, MBA, Sabrina Schlüter, MD, and Richard Bowman, FRCOphth

Subjects
External beam radiotherapy, Extraocular extension, Multimodal treatment, Retinoblastoma, Tumor, Ophthalmology, RE1-994
Abstract

Purpose: To study the treatment and outcomes of children with retinoblastoma (RB) with extraocular tumor extension (RB-EOE) and compare them with RB without extraocular tumor extension (RB-w/o-EOE). Design: Multicenter intercontinental collaborative prospective study from 2017 to 2020. RB-EOE cases included those with overt orbital tumor extension in treatment-naive patients. Cases with microscopic orbital extension detected postenucleation were excluded from the study. Participants: A total of 319 children with RB-EOE and 3116 children with RB-w/o-EOE. Intervention: Chemotherapy, enucleation, exenteration, radiotherapy. Main Outcome Measures: Systemic metastasis and death. Results: Of the 3435 RB patients included in this study, 309 (9%) were from low-income countries (LIC), 1448 (42%) from lower-middle income, 1012 (29%) from upper-middle income, and 666 (19%) patients from high-income countries. There was an inverse relationship between the percentage of RB-EOE and national income level, with 96 (31%) patients from LIC, 197 (6%) lower-middle income, 20 (2%) upper-middle income, and 6 (1%) patients from high-income countries (P = 0.0001). The outcomes were statistically significant for RB-EOE compared with RB-w/o-EOE: systemic metastasis (32% vs. 4% respectively; P = 0.0001) and metastasis-related death (63% vs. 6% respectively; P = 0.0001). Multimodal treatment was the most common form of treatment (n = 177; 54%) for RB-EOE, with most cases undergoing a combination of intravenous chemotherapy and enucleation (n = 97; 30%). Adjuvant external beam radiotherapy (EBRT) after surgery (enucleation/orbital exenteration) was given in only 68 (21%) cases. Kaplan–Meier analysis for systemic metastasis and metastasis-related death in RB-EOE was 28% and 57% at 1 year, 29% and 60% at 2 years, and 29% and 61% at 3 years, respectively. Cox regression analysis revealed that the risk of death from RB-EOE was greater in patients aged >4 years than

Published
2025
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7. Treatment Outcomes and Definition Inconsistencies in High-Risk Unilateral Retinoblastoma

Author

ARAZI, MATTAN, BAUM, ALONA, CASAVILCA-ZAMBRANO, SANDRO, Alarcon-Leon, Sandra, DIAZ-CORONADO, ROSDALI, AHMAD, ALIA, MUSHTAQ, ASMA, HUSSAIN, MAHVISH, USHAKOVA, TATIANA, YURI, SEROV, VLADIMIR, POLYAKOV, SHIELDS, CAROL L., EAGLE, RALPH C., Jr, BERRY, JESSE L., PIKE, SARAH, BROWN, BRIANNE, ROY, SOMA RANI, HUQUE, FAHMIDA, FABIAN, INA, FRENKEL, SHAHAR, EIGER-MOSCOVICH, MAYA, PE'ER, JACOB, HUBBARD, G BAKER, III, OLSON, THOMAS A., GROSSNIKLAUS, HANS, REDDY, M. ASHWIN, SAGOO, MANDEEP S., STAFFIERI, SANDRA E., ELDER, JAMES E., MCKENZIE, JOHN D., TANABE, MIKA, KALIKI, SWATHI, and FABIAN, IDO DIDI

Published
2024
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10. Retinoblastoma with and without Extraocular Tumor Extension: A Global Comparative Study of 3435 Patients

Author

Fabian, Ido Didi, Abdallah, Elhassan, Abdullahi, Shehu U., Abdulqader, Rula A., Abdulrahaman, Aminatu A., Abouelnaga, Sherif, Ademola-Popoola, Dupe S., Adio, Adedayo, Afifi, Mahmoud A., Afshar, Armin R., Aggarwal, Priyanka, Aghaji, Ada E., Ahmad, Alia, Akib, Marliyanti N.R., Akinsete, Adeseye M., Al Harby, Lamis, Al Mesfer, Saleh A., Al Ani, Mouroge H., Portabella, Silvia Alarcón, Al-Badri, Safaa A.F., Alcasabas, Ana Patricia A., Al-Dahmash, Saad A., Alejos, Amanda, Alemany-Rubio, Ernesto, Alfa Bio, Amadou I., Carreras, Yvania Alfonso, Al-Haddad, Christiane E., Al-Hussaini, Hamoud H.Y., Ali, Amany M., Alia, Donjeta B., Al-Jadiry, Mazin F., Al-Jumaly, Usama, Alkatan, Hind M., All-Eriksson, Charlotta, Al-Mafrachi, Ali A.R.M., Almeida, Argentino A., Alsawidi, Khalifa M., Al-Shaheen, Athar A.S.M., Al-Shammary, Entissar H., Amankwaa-Frempong, Doreen, Amiruddin, Primawita O., Armytasari, Inggar, Astbury, Nicholas J., Atalay, Hatice T., Ataseven, Eda, Atchaneeyasakul, La-ongsri, Atsiaya, Rose, Autrata, Rudolf, Balaguer, Julia, Balayeva, Ruhengiz, Barranco, Honorio, Bartoszek, Paulina, Bartuma, Katarina, Bascaran, Covadonga, Bechrakis, Nikolaos E., Popovic, Maja Beck, Begimkulova, Ainura S., Benmiloud, Sarra, Berete, Rokia C., Berry, Jesse L., Bhaduri, Anirban, Bhat, Sunil, Bhattacharyya, Arpita, Biewald, Eva M., Binkley, Elaine, Blum, Sharon, Bobrova, Nadia, Boldt, H. Culver, Bonanomi, Maria Teresa B.C., Bouda, Gabrielle C., Bouguila, Hédi, Brennan, Rachel C., Brichard, Bénédicte G., Buaboonnam, Jassada, Budiongo, Aléine, Burton, Matthew, Calderón-Sotelo, Patricia, Calle Jara, Doris A., Camuglia, Jayne E., Cano, Miriam R., Capra, Michael, Caspi, Shani, Cassoux, Nathalie, Castela, Guilherme, Castillo, Luis, Català-Mora, Jaume, Caviedes, Isabel, Chandramohan, Arthika, Chantada, Guillermo L., Chaudhry, Shabana, Chawla, Bhavna, Chen, Wensi, Chiwanga, Faraja S., Chuluunbat, Tsengelmaa, Cieslik, Krzysztof, Clark, Antony, Cockcroft, Ruellyn L., Comsa, Codruta, Correa Llano, Maria G., Corson, Timothy W., Couitchere, Line, Cowan-Lyn, Kristin E., Csóka, Monika, Dangboon, Wantanee, Das, Anirban, Das, Pranab, Das, Sima, Davanzo, Jacquelyn M., Davidson, Alan, De Francesco, Sonia, De Potter, Patrick, Delgado, Karina Q., Demirci, Hakan, Desjardins, Laurence, Diaz Coronado, Rosdali Y., Dimaras, Helen, Dodgshun, Andrew J., Donato Macedo, Carla R., Dragomir, Monica D., Du, Yi, Du Bruyn, Magritha, Du Plessis, Johannes P., Dudeja, Gagan, Eerme, Katrin, Eka Sutyawan, I Wayan, El Kettani, Asmaa, Elbahi, Amal M., Elder, James E., Elhaddad, Alaa M., Elhassan, Moawia M.A., Elzembely, Mahmoud M., Ericksen, Connor, Essuman, Vera A., Evina, Ted Grimbert A., Ezegwui, Ifeoma R., Fadoo, Zehra, Fandiño, Adriana C., Faranoush, Mohammad, Fasina, Oluyemi, Fernández, Delia D.P.G., Fernández-Teijeiro, Ana, Foster, Allen, Frenkel, Shahar, Fu, Ligia D., Fuentes-Alabi, Soad L., Garcia, Juan L., Aldana, David García, Garcia Pacheco, Henry N., Geel, Jennifer A., Ghassemi, Fariba, Girón, Ana V., Goenz, Marco A., Gold, Aaron S., Golberg, Hila, Gole, Glen A., Gomel, Nir, Gonzalez, Efren, Perez, Graciela Gonzalez, González-Rodríguez, Liudmira, Gorfine, Malka, Graells, Jaime, Gregersen, Pernille A., Grigorovski, Nathalia D.A.K., Guedenon, Koffi M., Gunasekera, D Sanjeeva, Gündüz, Ahmet K., Gupta, Himika, Gupta, Sanjiv, Gupta, Vineeta, Hadjistilianou, Theodora, Hamel, Patrick, Hamid, Syed A., Hamzah, Norhafizah, Hansen, Eric D., Harbour, J William, Hartnett, M. Elizabeth, Hasanreisoglu, Murat, Hassan, Sadiq, Hassan, Shadab, Hautz, Wojciech, Haydar, Huda A., Hederova, Stanislava, Hessissen, Laila, Lalaina, Hoby, Hongeng, Suradej, Hordofa, Diriba F., Hubbard, G. Baker, Hummlen, Marlies, Husakova, Kristina, Hussein Al-Janabi, Allawi N., Ibanga, Affiong A., Ida, Russo, Ilic, Vesna R., Islamov, Ziyavuddin, Jairaj, Vivekaraj, Janjua, Teyyeb A., Jeeva, Irfan, Ji, Xunda, Jo, Dong Hyun, Jones, Michael M., Amani Kabesha, Theophile B., Kabore, Rolande L., Kaliki, Swathi, Kalinaki, Abubakar, Kamsang, Pius, Kantar, Mehmet, Kapelushnik, Noa, Kardava, Tamar, Kebudi, Rejin, Keomisy, Jonny, Kepak, Tomas, Ketteler, Petra, Khan, Zohora J., Khaqan, Hussain A., Khetan, Vikas, Khodabande, Alireza, Khotenashvili, Zaza, Kim, Jonathan W., Kim, Jeong Hun, Kiratli, Hayyam, Kivelä, Tero T., Klett, Artur, Koç, Irem, Kosh Komba Palet, Jess Elio, Krivaitiene, Dalia, Kruger, Mariana, Kulvichit, Kittisak, Kuntorini, Mayasari W., Kyara, Alice, Lam, Geoffrey C., Larson, Scott A., Latinović, Slobodanka, Laurenti, Kelly D., Lavi, Yotam, Groznik, Alenka Lavric, Leverant, Amy A., Li, Cairui, Li, Kaijun, Limbu, Ben, Liu, Chun-Hsiu, Long, Quah Boon, López, Juan P., Lukamba, Robert M., Luna-Fineman, Sandra, Lutfi, Delfitri, Lysytsia, Lesia, Madgar, Shiran, Magrath, George N., Mahajan, Amita, Maitra, Puja, Maka, Erika, Makimbetov, Emil K., Maktabi, Azza M.Y., Maldonado, Carlos, Mallipatna, Ashwin, Manudhane, Rebecca, Manzhuova, Lyazat, Begue, Nieves Martín, Masud, Sidra, Matende, Ibrahim O., Mattosinho, Clarissa C.D.S., Matua, Marchelo, Mayet, Ismail, Mbumba, Freddy B., McKenzie, John D., Mehrvar, Azim, Mengesha, Aemero A., Menon, Vikas, Mercado, Gary John V.D.D., Mets, Marilyn B., Midena, Edoardo, Miller, Audra, Mishra, Divyansh K.C., Mndeme, Furahini G., Mohamedani, Ahmed A., Mohammad, Mona T., Moll, Annette C., Montero, Margarita M., Moreira, Claude, Mruthyunjaya, Prithvi, Msina, Mchikirwa S., Msukwa, Gerald, Mudaliar, Sangeeta S., Muhammad, Hassan, Muma, Kangwa I., Munier, Francis L., Murray, Timothy G., Musa, Kareem O., Mushtaq, Asma, Musika, Anne A., Mustak, Hamzah, Mustapha, Tajudeen, Muyen, Okwen M., Myezo, Khumo H., Naidu, Gita, Naidu, Natasha, Nair, Akshay Gopinathan, Natarajan, Sundaram, Naumenko, Larisa, Ndoye Roth, Paule Aïda, Nency, Yetty M., Neroev, Vladimir, Ng, Yvonne, Nikitovic, Marina, Nkanga, Elizabeth D., Nkumbe, Henry E., Numbi, Marcel N., Nummi, Kalle, Nuruddin, Murtuza, Nyaywa, Mutale, Nyirenda, Chinsisi, Obono-Obiang, Ghislaine, Oliver, Scott C.N., Ooporto, Joaquin, Ortega-Hernández, Miriam, Oscar, Alexander, Ossandon, Diego, Pagarra, Halimah, Paintsil, Vivian, Paiva, Luisa, Palanivelu, Mahesh Shanmugam, Papyan, Ruzanna, Parrozzani, Raffaele, Pascual Morales, Claudia R., Paton, Katherine E., Pe'er, Jacob, Calvo, Jesús Peralta, Perić, Sanja, Pham, Chau T.M., Philbert, Remezo, Plager, David A., Pochop, Pavel, Polania, Rodrigo A., Polyakov, Vladimir, Ponce, Jimena, Qadir, Ali O., Qayyum, Seema, Qian, Jiang, Rahman, Ardizal, Rajkarnikar, Purnima, Ramanjulu, Rajesh, Ramasubramanian, Aparna, Ramirez-Ortiz, Marco A., Randhawa, Jasmeen K., Raobela, Léa, Rashid, Riffat, Reddy, M. Ashwin, Renner, Lorna A., Reynders, David, Ribadu, Dahiru, Ritter-Sovinz, Petra, Rogowska, Anna, Rojanaporn, Duangnate, Romero, Livia, Roy, Soma R., Saab, Raya H., Saakyan, Svetlana, Sabhan, Ahmed H., Sagoo, Mandeep S., Said, Azza M.A., Saiju, Rohit, Salas, Beatriz, San Román Pacheco, Sonsoles, Sánchez, Gissela L., Sanchez Orozco, Alma Janeth, Sayalith, Phayvanh, Scanlan, Trish A., Schwab, Christoph, Sedaghat, Ahad, Seth, Rachna, Sgroi, Mariana, Shah, Ankoor S., Shakoor, Shawkat A., Sharma, Manoj K., Sherief, Sadik T., Shields, Carol L., Sia, David, Noorani Siddiqui, Sorath, Sidi cheikh, Sidi, Silva, Sónia, Singh, Arun D., Singh, Usha, Singha, Penny, Sitorus, Rita S., Skalet, Alison H., Soebagjo, Hendrian D., Sorochynska, Tetyana, Ssali, Grace, Stacey, Andrew W., Staffieri, Sandra E., Stahl, Erin D., Steinberg, David M., Stones, David K., Strahlendorf, Caron, Coleoni Suarez, Maria Estela, Sultana, Sadia, Sun, Xiantao, Superstein, Rosanne, Supriyadi, Eddy, Surukrattanaskul, Supawan, Suzuki, Shigenobu, Svojgr, Karel, Sylla, Fatoumata, Tamamyan, Gevorg, Tan, Deborah, Tandili, Alketa, Tang, Jing, Tarrillo Leiva, Fanny F., Tashvighi, Maryam, Tateshi, Bekim, Teh, Kok Hoi, Tehuteru, Edi S., Teixeira, Luiz F., Pompe, Manca Tekavcic, Thawaba, Abdullah Dahan M., Theophile, Tuyisabe, Toledano, Helen, Trang, Doan L., Traoré, Fousseyni, Tripathy, Devjyoti, Tuncer, Samuray, Tyau-Tyau, Harba, Umar, Ali B., Unal, Emel, Uner, Ogul E., Urbak, Steen F., Ushakova, Tatiana L., Usmanov, Rustam H., Valeina, Sandra, Valente, Paola, van Hoefen Wijsard, Milo, Vasquez Anchaya, Jacqueline Karina, Vaughan, Leon O., Veleva-Krasteva, Nevyana V., Verma, Nishant, Victor, Andi A., Viksnins, Maris, Villacís Chafla, Edwin G., Villegas, Victor M., Vishnevskia-Dai, Victoria, Waddell, Keith, Wali, Amina H., Wang, Yi-Zhuo, Wangtiraumnuay, Nutsuchar, Wetter, Julie A., Riono, Widiarti P., Wilson, Matthew W., Wime, Amelia D.C., Wiwatwongwana, Atchareeya, Wiwatwongwana, Damrong, Dod, Charlotte Wolley, Wong, Emily S., Wongwai, Phanthipha, Wu, Si-qi, Xiang, Daoman, Xiao, Yishuang, Xu, Bing, Xue, Kang, Yaghy, Antonio, Yam, Jason C., Yang, Huasheng, Yanga, Jenny M., Yaqub, Muhammad A., Yarovaya, Vera A., Yarovoy, Andrey A., Ye, Huijing, Yee, Roberto I., Yousef, Yacoub A., Yuliawati, Putu, López, Arturo M., Zein, Ekhtelbenina, Zhang, Yi, Zhilyaeva, Katsiaryna, Zia, Nida, Ziko, Othman A.O., Zondervan, Marcia, Schlüter, Sabrina, Bowman, Richard, and Vempuluru, Vijitha S.

Published
2025
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11. Conventional Versus Regenerative Methods for Wound Healing: A Comparative Experimental Study on a Sheep Model

Author

Rossella Elia, Michele Maruccia, Pietro Giovanni Di Summa, Rodrigo Trisciuzzi, Giuditta Lovero, Gerardo Cazzato, Luca Lacitignola, Francesco Staffieri, and Alberto Maria Crovace

Subjects
wound, wound bed preparation, dermal matrix, micrograft, Medicine (General), R5-920
Abstract

Background and Objectives: Wound healing is a complex process involving cellular, anatomical, and functional repair, often hindered in chronic wounds associated with diseases like diabetes and vascular disorders. This study investigated the efficacy of conventional and regenerative wound healing approaches in a sheep surgical wound model. Materials and Methods: Six female Bergamasca sheep underwent five full-thickness skin lesions treated with various methods: sterile gauze (control), chlorhexidine, sodium hypochlorite, micronized dermis system application, and dermal matrix. Wound healing progression was monitored over 42 days through wound dimension measurements, exudate analysis, and histopathological evaluations. Results: The results indicated that all wounds healed completely by day 42, with significant reductions in wound size and exudate over time. Notably, Micronized dermis system application and dermal matrix treatments showed a faster evolution in exudate characteristics and improved collagen reorganization compared to other treatments. Histological analysis revealed earlier neovascularization and better reconstitution of hair follicles in these groups. Despite the lack of significant differences in healing time, both regenerative approaches enhanced wound healing phases, contributing to exudate control, angiogenesis promotion, and reduced scar formation. Conclusions: The findings suggest that while micronized dermis system application and dermal matrix do not accelerate acute wound healing compared to conventional methods, they offer potential benefits in managing exudate and improving tissue regeneration, warranting further investigation in chronic wound scenarios.

Published
2024
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13. Beneficial effects of recombinant CER-001 high-density lipoprotein infusion in sepsis: results from a bench to bedside translational research project

Author

Alessandra Stasi, Marco Fiorentino, Rossana Franzin, Francesco Staffieri, Sabrina Carparelli, Rosa Losapio, Alberto Crovace, Luca Lacitignola, Maria Teresa Cimmarusti, Francesco Murgolo, Monica Stufano, Cesira Cafiero, Giuseppe Castellano, Fabio Sallustio, Chiara Ferrari, Mario Ribezzi, Nicola Brienza, Annalisa Schirinzi, Francesca Di Serio, Salvatore Grasso, Paola Pontrelli, Cyrille Tupin, Ronald Barbaras, Constance Keyserling-Peyrottes, Antonio Crovace, and Loreto Gesualdo

Subjects
ApoA-I complexes, Sepsis, Multi-organ dysfunction, Cytokine storm, Medicine
Abstract

Abstract Background Sepsis is characterized by a dysregulated immune response and metabolic alterations, including decreased high-density lipoprotein cholesterol (HDL-C) levels. HDL exhibits beneficial properties, such as lipopolysaccharides (LPS) scavenging, exerting anti-inflammatory effects and providing endothelial protection. We investigated the effects of CER-001, an engineered HDL-mimetic, in a swine model of LPS-induced acute kidney injury (AKI) and a Phase 2a clinical trial, aiming to better understand its molecular basis in systemic inflammation and renal function. Methods We carried out a translational approach to study the effects of HDL administration on sepsis. Sterile systemic inflammation was induced in pigs by LPS infusion. Animals were randomized into LPS (n = 6), CER20 (single dose of CER-001 20 mg/kg; n = 6), and CER20 × 2 (two doses of CER-001 20 mg/kg; n = 6) groups. Survival rate, endothelial dysfunction biomarkers, pro-inflammatory mediators, LPS, and apolipoprotein A-I (ApoA-I) levels were assessed. Renal and liver histology and biochemistry were analyzed. Subsequently, we performed an open-label, randomized, dose-ranging (Phase 2a) study included 20 patients with sepsis due to intra-abdominal infection or urosepsis, randomized into Group A (conventional treatment, n = 5), Group B (CER-001 5 mg/kg BID, n = 5), Group C (CER-001 10 mg/kg BID, n = 5), and Group D (CER-001 20 mg/kg BID, n = 5). Primary outcomes were safety and efficacy in preventing AKI onset and severity; secondary outcomes include changes in inflammatory and endothelial dysfunction markers. Results CER-001 increased median survival, reduced inflammatory mediators, complement activation, and endothelial dysfunction in endotoxemic pigs. It enhanced LPS elimination through the bile and preserved liver and renal parenchyma. In the clinical study, CER-001 was well-tolerated with no serious adverse events related to study treatment. Rapid ApoA-I normalization was associated with enhanced LPS removal and immunomodulation with improvement of clinical outcomes, independently of the type and gravity of the sepsis. CER-001-treated patients had reduced risk for the onset and progression to severe AKI (stage 2 or 3) and, in a subset of critically ill patients, a reduced need for organ support and shorter ICU length of stay. Conclusions CER-001 shows promise as a therapeutic strategy for sepsis management, improving outcomes and mitigating inflammation and organ damage. Trial registration The study was approved by the Agenzia Italiana del Farmaco (AIFA) and by the Local Ethic Committee (N° EUDRACT 2020–004202-60, Protocol CER-001- SEP_AKI_01) and was added to the EU Clinical Trials Register on January 13, 2021.

Published
2023
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15. The Pleth Variability Index as a Guide to Fluid Therapy in Dogs Undergoing General Anesthesia: A Preliminary Study

Author

Caterina Vicenti, Noemi Romagnoli, Marzia Stabile, Carlotta Lambertini, Claudia Piemontese, Francesca Spaccini, Armando Foglia, Luca Lacitignola, Antonio Crovace, and Francesco Staffieri

Subjects
fluid therapy, conventional fluid management, pleth variability index, dog, intraoperative management, anesthesia, Veterinary medicine, SF600-1100
Abstract

The aim of this prospective, randomized clinical trial was to evaluate the use of the pleth variability index (PVi) to guide the rate of intraoperative fluid therapy compared to a traditional fixed-fluid-rate approach in ASA 1–2 dogs undergoing surgery. Twenty-seven dogs met the inclusion criteria and were randomly assigned to the conventional fluid management group (CFM, n = 12) or the PVi-guided group (PVi, n = 15). The CFM group received a fixed rate of 5 mL kg−1 h−1 of crystalloid solution, while in the PVi group the rate was continuously adjusted based on the PVi: PVi < 14% = 3 mL kg−1 h−1; 14% ≤ PVi ≥ 20% = 10 mL kg−1 h−1; and PVi > 20% = 15 mL kg−1 h−1. Hypotension (MAP < 65 mmHg) in the CFM was treated with a maximum of two fluid boluses (5 mL kg−1 in 10 min) and in the case of no response, dobutamine (1–3 mcg kg−1 min−1) was administered. In the PVi group, the treatment of hypotension was similar, except when the PVi > 14%, when dobutamine was started directly. Total fluid volume was significantly lower in the PVI group (0.056 ± 0.027 mL kg−1 min−1) compared to the CFM group (0.132 ± 0.115 mL kg−1 min−1), and the incidence of hypotension was lower (p = 0.023) in the PVi group (0%) compared to the CFM group (41%). The mean arterial pressure (MAP) was significantly higher in the PVi group during surgery. Dobutamine was never administered in either group. Preliminary data suggest that the PVi may be considered as a potential target to guide fluid therapy in dogs; larger studies are needed, especially in cases of cardiovascular instability.

Published
2024
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16. Total Laparoscopic Colopexy for the Treatment of Recurrent Rectal Prolapses in Three Cats

Author

Marta Guadalupi, Claudia Piemontese, Marzia Stabile, Rosanna Dizonno, Francesco Staffieri, and Luca Lacitignola

Subjects
laparoscopy, recurrent rectal prolapse, colopexy, cat, Veterinary medicine, SF600-1100
Abstract

The use of minimally invasive methods has grown in popularity due to decreased postoperative morbidity and a quicker recovery. Colopexy is a surgical method that includes the permanent adhesion of the colonic seromuscular layer to the abdominal wall to avoid rectal prolapses in cats and dogs with viable prolapsed tissues. In this case series, we describe the treatment of three cats with total laparoscopic colopexy (TLC) for recurrent rectal prolapses. A non-incisional colopexy was created by suturing the colon to the abdominal wall with a barbed suture. There were no intraoperative complications and a 6-month follow-up revealed no prolapse recurrence. Our study demonstrates that TLC approaches are feasible, safe, and free of problems when used to treat recurrent rectal prolapses in cats, although a larger caseload is required to validate the results obtained from our reported cases.

Published
2024
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17. Development and Validation of Liquid Chromatographic Method for Fast Determination of Lincomycin, Polymyxin and Vancomycin in Preservation Solution for Transplants

Author

Qi Lin, Tam Nguyen, Chiara Staffieri, Ann Van Schepdael, and Erwin Adams

Subjects
transplant preservation solution, lincomycin, polymyxin, vancomycin, superficially porous particles, liquid chromatography, Organic chemistry, QD241-441
Abstract

In this study, a liquid chromatographic method was developed for the fast determination of lincomycin, polymyxin and vancomycin in a preservation solution for transplants. A Kinetex EVO C18 (150 × 4.6 mm, 2.6 µm) column was utilized at 45 °C. Gradient elution was applied using a mixture of mobile phases A and B, both including 30 mM phosphate buffer at pH 2.0 and acetonitrile, at a ratio of 95:5 (v/v) for A and 50:50 (v/v) for B. A flow rate of 1.0 mL/min, an injection volume of 20 µL and UV detection at 210 nm were used. A degradation study treating the three antibiotics with 0.5 M hydrochloric acid, 0.5 M sodium hydroxide and 3% H2O2 indicated that the developed method was selective toward lincomycin, polymyxin, vancomycin and their degradation products. Other ingredients of the preservation solution, like those from the cell culture medium, did not interfere. The method was validated with good sensitivity, linearity, precision and accuracy. Furthermore, lincomycin, polymyxin and vancomycin were found to be stable in this preservation solution for 4 weeks when stored at −20 °C.

Published
2024
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18. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

Author

Abarca-Barriga, Hugo, Al-Haddad, Christiane, Berman, Jeffrey L., Bothun, Erick D., Capasso, Jenina, Chacon-Camacho, Oscar Francisco, Chang, Lan, Christiansen, Stephen P., Ciccarelli, Maria Laura, Cordonnier, Monique, Cox, Gerald F., Curry, Cynthia J., Dagi, Linda R., Lee Dahm, Thomas, David, Karen L., Davitt, Bradley V., De Berardinis, Teresa, Demer, Joseph L., Désir, Julie, D’Esposito, Fabiana, Drack, Arlene V., Eggenberger, Eric, Elder, James E., Elliott, Alexandra T., Epley, K. David, Feldman, Hagit Baris, Ferreira, Carlos R., Flaherty, Maree P., Fulton, Anne B., Gerth-Kahlert, Christina, Gottlob, Irene, Grill, Stephen, Halliday, Dorothy J., Hanisch, Frank, Hay, Eleanor, Heidary, Gena, Holder, Christopher, Horton, Jonathan C., Iannaccone, Alessandro, Isenberg, Sherwin J., Johnston, Suzanne C., Kahana, Alon, Katowitz, James A., Kazlas, Melanie, Kerr, Natalie C., Kimonis, Virginia, Ko, Melissa W., Koc, Feray, Larsen, Dorte Ancher, Lay-Son, Guillermo, Ledoux, Danielle M., Levin, Alex V., Levy, Richard L., Lyons, Christopher J., Mackey, David A., Magli, Adriano, Mantagos, Iason S., Marti, Candice, Maystadt, Isabelle, McKenzie, Fiona, Menezes, Manoj P., Mikail, Claudia N., Miller, David T., Miller, Kathryn Bisceglia, Mills, Monte D., Miyana, Kaori, Moller, H.U., Mullineaux, Lisa, Nishimura, Julie K., Noble, A. Gwendolyn, Pandey, Pramod Kumar, Pavone, Piero, Penzien, Johann, Petersen, Robert, Phalen, James A., Poduri, Annapurna, Polo, Claudia R., Prasov, Lev, Ramos, Feliciano J., Ramos-Caceres, Maria, Robb, Richard M., Rossillion, Béatrice, Sahin, Mustafa, Singer, Harvey S., Smith, Lois E.H., Sorkin, Jeffrey A., Soul, Janet S., Staffieri, Sandra E., Stalker, Heather J., Stasheff, Steven F., Strassberg, Sonya, Strominger, Mitchell B., Taranath, Deepa Ajay, Thomas, Ioan Talfryn, Traboulsi, Elias I., Ugrin, Maria Cristina, VanderVeen, Deborah K., Vincent, Andrea L., Vogel G, Marlene C., Wabbels, Bettina, Wong, Agnes M.F., Woods, C. Geoffrey, Wu, Carolyn, Yang, Edward, Yeung, Alison, Young, Terri L., Zenteno, Juan C., Zubcov-Iwantscheff, Alexandra A., Zwaan, Johan, Jurgens, Julie A., Barry, Brenda J., Chan, Wai-Man, MacKinnon, Sarah, Whitman, Mary C., Matos Ruiz, Paola M., Pratt, Brandon M., England, Eleina M., Pais, Lynn, Lemire, Gabrielle, Groopman, Emily, Glaze, Carmen, Russell, Kathryn A., Singer-Berk, Moriel, Di Gioia, Silvio Alessandro, Lee, Arthur S., Andrews, Caroline, Shaaban, Sherin, Wirth, Megan M., Bekele, Sarah, Toffoloni, Melissa, Bradford, Victoria R., Foster, Emma E., Berube, Lindsay, Rivera-Quiles, Cristina, Mensching, Fiona M., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Wilson, Michael W., Weisburd, Ben, Lek, Monkol, Brand, Harrison, Talkowski, Michael E., MacArthur, Daniel G., O’Donnell-Luria, Anne, Robson, Caroline D., Hunter, David G., and Engle, Elizabeth C.

Published
2024
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19. Retinoblastoma Outcomes Based on the 8th Edition American Joint Committee on Cancer Pathological Classification in 1411 Patients

Author

Ahmad, Alia, Bejjanki, Kavya Madhuri, Diaz-Coronado, Rosdali, Eiger-Moscovich, Maya, Elder, James E., Fabian, Ido Didi, Frenkel, Shahar, Grossniklaus, Hans, Hubbard, G. Baker, III, Kaliki, Swathi, Kapoor, Anasua Ganguly, Mohammad, Mona, McKenzie, John D., Pe’er, Jacob, Rath, Suryasnata, Reddy, M.Ashwin, Rolfe, Olivia, Roy, Soma Rani, Sagoo, Mandeep S., Shields, Carol L., Staffieri, Sandra E., Tanabe, Mika, Tatiana, Ushakova, Tripathy, Devjyoti, Vishnevskia-Dai, Vicktoria, Vempuluru, Vijitha S., Vladimir, Polyakov, Yousef, Yacoub A., and Berry, Jesse L.

Published
2024
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20. Subclinical cardiac dysfunction may impact on fluid and vasopressor administration during early resuscitation of septic shock

Author

Francesco Murgolo, Rossella di Mussi, Antonio Messina, Luigi Pisani, Lidia Dalfino, Antonio Civita, Monica Stufano, Altamura Gianluca, Francesco Staffieri, Nicola Bartolomeo, Savino Spadaro, Nicola Brienza, and Salvatore Grasso

Subjects
Surviving Sepsis Campaign, Septic shock, Sepsis-related cardiac dysfunction, Hemodynamic resuscitation, Trans-pulmonary thermodilution, Anesthesiology, RD78.3-87.3, Medical emergencies. Critical care. Intensive care. First aid, RC86-88.9
Abstract

Abstract Background According to the Surviving Sepsis Campaign (SSC) fluids and vasopressors are the mainstays of early resuscitation of septic shock while inotropes are indicated in case of tissue hypoperfusion refractory to fluids and vasopressors, suggesting severe cardiac dysfunction. However, septic cardiac disfunction encompasses a large spectrum of severities and may remain “subclinical” during early resuscitation. We hypothesized that “subclinical” cardiac dysfunction may nevertheless influence fluid and vasopressor administration during early resuscitation. We retrospectively reviewed prospectically collected data on fluids and vasoconstrictors administered outside the ICU in patients with septic shock resuscitated according to the SSC guidelines that had reached hemodynamic stability without the use of inotropes. All the patients were submitted to transpulmonary thermodilution (TPTD) hemodynamic monitoring at ICU entry. Subclinical cardiac dysfunction was defined as a TPTD-derived cardiac function index (CFI) ≤ 4.5 min−1. Results At ICU admission, subclinical cardiac dysfunction was present in 17/40 patients (42%; CFI 3.6 ± 0.7 min−1 vs 6.6 ± 1.9 min−1; p

Published
2023
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21. Effects of a feed supplement, containing undenatured type II collagen (UC II®) and Boswellia Serrata, in the management of mild/moderate mobility disorders in dogs: A randomized, double-blind, placebo controlled, cross-over study.

Author

Marzia Stabile, Laura Fracassi, Luca Lacitignola, Elena Garcia-Pedraza, Chiara Roberta Girelli, Crescenza Calculli, Angela Maria D'Uggento, Nunziata Ribecco, Antonio Crovace, Francesco Paolo Fanizzi, and Francesco Staffieri

Subjects
Medicine, Science
Abstract

This study was designed as a randomized, placebo-controlled, double-blinded, cross-over trial performed to investigate the effects of a dietary supplement containing undenatured type II collagen (UCII®) and Boswellia Serrata on mobility, pain and joint metabolism in mild moderate osteoarthritis (OA) in dogs. A total of 60 dogs with mobility problems were evaluated and enrolled in the study. Seventeen of these dogs with mild/moderate OA were randomized to receive the product A (UCII® + Boswellia Serrata supplement-UCII®-BW) or product B (Placebo -PL), 1 chew per day for 8 weeks by oral route, and repeated in a crossover design after 4 weeks of washout period. All the subjects had veterinary evaluations during the trial and owners were requested to fill out a questionnaire on mobility impairment using the Liverpool Osteoarthritis in dogs scale (L.O.A.D.) at each time of the study. Objective tools were used to assess mobility, activity, and pain. Metabolomic analysis was performed on synovial fluid of most affected joint at the beginning and the end of the study. The results proved that UCII®+Boswellia serrata supplemented group over a period of eight weeks results in an improvement of mobility impairment, already at 4 weeks of administration, according to the owner´s evaluation. In contrast, its absence increased the risk of OA crisis and decreased the pain threshold on the most affected joint. Furthermore, the synovial fluid metabolic profile showed moderate differences between the beginning and the end of the supplementation period, with a particular influence associated to the time of UCII®-BW administration.

Published
2024
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22. Beneficial effects of recombinant CER-001 high-density lipoprotein infusion in sepsis: results from a bench to bedside translational research project

Author

Stasi, Alessandra, Fiorentino, Marco, Franzin, Rossana, Staffieri, Francesco, Carparelli, Sabrina, Losapio, Rosa, Crovace, Alberto, Lacitignola, Luca, Cimmarusti, Maria Teresa, Murgolo, Francesco, Stufano, Monica, Cafiero, Cesira, Castellano, Giuseppe, Sallustio, Fabio, Ferrari, Chiara, Ribezzi, Mario, Brienza, Nicola, Schirinzi, Annalisa, Di Serio, Francesca, Grasso, Salvatore, Pontrelli, Paola, Tupin, Cyrille, Barbaras, Ronald, Keyserling-Peyrottes, Constance, Crovace, Antonio, and Gesualdo, Loreto

Published
2023
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28. 1H-NMR metabolomic profile of healthy and osteoarthritic canine synovial fluid before and after UC-II supplementation

Author

Marzia Stabile, Chiara Roberta Girelli, Luca Lacitignola, Rossella Samarelli, Antonio Crovace, Francesco Paolo Fanizzi, and Francesco Staffieri

Subjects
Medicine, Science
Abstract

Abstract The aim of the study was to compare the metabolomic synovial fluid (SF) profile of dogs affected by spontaneous osteoarthritis (OA) and supplemented with undenatured type II collagen (UC-II), with that of healthy control dogs. Client-owned dogs were enrolled in the study and randomized in two different groups, based on the presence/absence of OA (OA group and OA-free group). All dogs were clinically evaluated and underwent SF sampling for 1H-Nuclear Magnetic Resonance spectroscopy (1H-NMR) analysis at time of presentation. All dogs included in OA group were supplemented with UC-II orally administered for 30 days. After this period, they were reassessed (OA-T30). The differences in the 1H-NMR metabolic SFs profiles between groups (OA-free, OA-T0 and OA-T30) were studied. The multivariate statistical analysis performed on SFs under different conditions (OA-T0 vs OA-T30 SFs; OA-T0 vs OA-free SFs and OA-T30 vs OA-free SFs) gave models with excellent goodness of fit and predictive parameters, revealed by a marked separation between groups. β-Hydroxybutyrate was identified as a characteristic compound of osteoarthritic joints, showing the important role of fat metabolism during OA. The absence of β-hydroxybutyrate after UC-II supplementation suggests the supplement’s effectiveness in rebalancing the metabolism inside the joint. The unexpectedly high level of lactate in the OA-free group suggests that lactate could not be considered a good marker for OA. These results prove that 1H-NMR-based metabolomic analysis is a valid tool to study and monitor OA and that UC-II improves clinical symptoms and the SF metabolic profile in OA dogs.

Published
2022
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29. COAST Development Group's international consensus guidelines for the treatment of canine osteoarthritis

Author

Thibaut Cachon, Ole Frykman, John F. Innes, B. Duncan X. Lascelles, Masahiro Okumura, Pedro Sousa, Francesco Staffieri, Paulo V. Steagall, and Bernadette Van Ryssen

Subjects
dog, pain, osteoarthritis, staging, management, treatment guidelines, Veterinary medicine, SF600-1100
Abstract

This report describes consensus guidelines and recommendations for the treatment of canine osteoarthritis (OA) according to the “Canine OsteoArthritis Staging Tool excluding radiography” (COASTeR) stage of OA, by the COAST Development Group. The recommendations are based on evidence-based medicine and clinical experience and are proposed with international relevance in mind. The aim is to provide veterinarians with a practical reference to consolidated information and to support the development of patient-specific OA management protocols and informed treatment choices based on the stage of OA.

Published
2023
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30. Respiratory Effects of Continuous Positive Airway Pressure Administered during Recovery from General Anesthesia in Brachycephalic Dogs

Author

Caterina Vicenti, Pablo E. Otero, Angela Briganti, Vincenzo Rondelli, Marzia Stabile, Claudia Piemontese, Antonio Crovace, Luca Lacitignola, and Francesco Staffieri

Subjects
brachycephalic, dog, CPAP, oxygenation, anesthesia, Veterinary medicine, SF600-1100
Abstract

This study aimed to evaluate the benefits of applying 5 cmH2O of CPAP using a pediatric helmet during the recovery phase from general anesthesia in brachycephalic dogs. Brachycephalic dogs undergoing various surgical procedures were included in this study, and a total of 64 subjects were randomly assigned to receive either standard oxygen supplementation (NO-CPAP group) or oxygen supplementation combined with CPAP (CPAP group). This study evaluated arterial blood pH, blood gas partial pressures of O2 and CO2, arterial blood O2 saturation, and related parameters during recovery. The dogs were monitored, and helmet tolerance was assessed using predefined criteria. Of the initially assessed 69 dogs, 64 were enrolled: 32 in the CPAP group and 32 in the NO-CPAP group. Fifteen dogs in the NO-CPAP group were excluded based on predetermined criteria. The CPAP group showed significant improvements in PaO2, PaO2/FiO2, P(A-a)O2, F-Shunt, and respiratory rate compared with the NO-CPAP group (p < 0.001). The incidence of reintubation and helmet intolerance was higher in the NO-CPAP group (18% and 15.6%, respectively) than in the CPAP group (0%). This study highlights the potential benefits of incorporating CPAP, delivered through a pediatric helmet, in the perioperative management of brachycephalic dogs.

Published
2024
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31. Sex, gender, and retinoblastoma: analysis of 4351 patients from 153 countries

Author

Fabian, Ido Didi, Khetan, Vikas, Stacey, Andrew W., Allen Foster, Ademola-Popoola, Dupe S., Berry, Jesse L., Cassoux, Nathalie, Chantada, Guillermo L., Hessissen, Laila, Kaliki, Swathi, Kivelä, Tero T., Luna-Fineman, Sandra, Munier, Francis L., Reddy, M. Ashwin, Rojanaporn, Duangnate, Blum, Sharon, Sherief, Sadik T., Staffieri, Sandra E., Theophile, Tuyisabe, Waddell, Keith, Ji, Xunda, Astbury, Nicholas J., Bascaran, Covadonga, Burton, Matthew, Zondervan, Marcia, and Bowman, Richard

Published
2022
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33. Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Author

Iglesias, Adriana I, Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N Cooke, Willoughby, Colin E, Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P, Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L, Kearns, Lisa S, Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M, Taylor, Kent D, Blue Mountains Eye Study - GWAS group, Bonnemaijer, Pieter, Rotter, Jerome I, Martin, Nicholas G, Zeller, Tanja, Mills, Richard A, Souzeau, Emmanuelle, Staffieri, Sandra E, Jonas, Jost B, Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H, Lucas, Sionne EM, Wong, Tien Yin, Beutel, Manfred E, Wilson, James F, Wellcome Trust Case Control Consortium 2 (WTCCC2), NEIGHBORHOOD consortium, Uitterlinden, André G, Vithana, Eranga N, Foster, Paul J, Hysi, Pirro G, Hewitt, Alex W, Khor, Chiea Chuen, Pasquale, Louis R, Montgomery, Grant W, Klaver, Caroline CW, Aung, Tin, Pfeiffer, Norbert, Mackey, David A, Hammond, Christopher J, Cheng, Ching-Yu, Craig, Jamie E, Rabinowitz, Yaron S, Wiggs, Janey L, Burdon, Kathryn P, van Duijn, Cornelia M, and MacGregor, Stuart

Subjects
Blue Mountains Eye Study - GWAS group, Wellcome Trust Case Control Consortium 2, NEIGHBORHOOD consortium, Eye Disease and Disorders of Vision
Abstract

Emmanuelle Souzeau, who contributed to analysis of data, was inadvertently omitted from the author list in the originally published version of this Article. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2019

35. Cost Analysis of Orthoptist-Led Neurofibromatosis Type 1 Screening Clinics

Author

Navdeep Kaur, Catherine Lewis, Sandra Staffieri, Jonathan Ruddle, Ilias Goranitis, Jay Stiles, and Gabriel Dabscheck

Subjects
orthoptist-led, nf1, optic pathway glioma, cost-analysis, health economics, Ophthalmology, RE1-994
Abstract

Purpose: To conduct a costing study comparing orthoptist-led with consultant-led clinics screening for optic pathway gliomas (OPGs) in children with neurofibromatosis Type 1 (NF1) attending the Royal Children’s Hospital (RCH), Melbourne. Methods: Patients with NF1 examined in the orthoptist-led NF1 screening clinic and/or consultant-led clinics during the study period were identified. The workflow management software Q-Flow 6® provided data documenting patient’s time spent with the orthoptist, nurse, and ophthalmologist. Time points were converted into minutes and multiplied by the cost-per-minute for each profession. A bottom-up micro-costing approach was used to estimate appointment level costs. Bootstrap simulations with 1000 replications were used to estimate 95% confidence intervals (CIs) for the difference in mean appointment time and cost between clinics. Results: Data for 130 consultant-led clinic appointments and 234 orthoptist-led clinic appointments were extracted for analysis. The mean time per appointment for the consultant-led clinic was 45.11 minutes, and the mean time per appointment for the orthoptist-led clinic was 25.85 minutes. The mean cost per appointment for the consultant-led clinic was A $84.15 (GBP £39.60) compared to the orthoptist-led clinic at A $20.40 (GBP £9.60). This represents a mean reduction of 19.25 minutes per appointment (95% CI, –24.85 to –13.66) and a mean reduction of A $63.75 (GBP £30.00) per appointment (95% CI, (A $-75.40 to $-52.10 [GBP £ -35.48 to £ -24.52]). Conclusion: An orthoptist-led clinic screening for OPGs in patients with NF1 can be a more cost-efficient model of care for ophthalmic screening in this patient group.

Published
2023
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36. Sense of smell in chronic rhinosinusitis: A multicentric study on 811 patients

Author

Alberto Macchi, Alessia Giorli, Elena Cantone, Giorgia Carlotta Pipolo, Flavio Arnone, Umberto Barbone, Giacomo Bertazzoni, Chiara Bianchini, Andrea Ciofalo, Federica Cipolla, Alessio De Massimi, Carla De Vita, Cristina Di Lieto, Angelo Ghidini, Marco Govoni, Giulia Gramellini, Alessandro Maselli Del Giudice, Giancarlo Ottaviano, Veronica Seccia, Federico Sireci, Giacomo Sollini, Claudia Staffieri, Stefania Gallo, Enrico Heffler, Ignazio La Mantia, Eugenio De Corso, Frank Rikki Canevari, Nicola Lombardo, Luca Malvezzi, Gabriele Orietti, Ernesto Pasquini, Livio Presutti, and Giulia Monti

Subjects
CRSwNP, smell, type 2, QoL (quality of life), olfactory dysfunction, Immunologic diseases. Allergy, RC581-607
Abstract

IntroductionThe impairment of the sense of smell is often related to chronic rhinosinusitis (CRS) with or without nasal polyps (CRSwNP, CRSsNP). CRSwNP is a frequent condition that drastically worsens the quality of life of those affected; it has a higher prevalence than CRSsNP. CRSwNP patients experience severe loss of smell with earlier presentation and are more likely to experience recurrence of their symptoms, often requiring revision surgery.MethodsThe present study performed a multicentric data collection, enrolling 811 patients with CRS divided according to the inflammatory endotype (Type 2 and non-Type 2). All patients were referred for nasal endoscopy for the assessment of nasal polyposis using nasal polyp score (NPS); Sniffin’ Sticks olfactory test were performed to measure olfactory function, and SNOT-22 (22-item sinonasal outcome test) questionnaire was used to assess patients’ quality of life; allergic status was evaluated with skin prick test and nasal cytology completed the evaluation when available.ResultsData showed that Type 2 inflammation is more common than non-type 2 (656 patients versus 155) and patients suffer from worse quality of life and nasal polyp score. Moreover, 86.1% of patients with Type 2 CRSwNP were affected by a dysfunction of the sense of smell while it involved a lesser percentage of non-Type 2 patients. Indeed, these data give us new information about type-2 inflammation patients’ characteristics.DiscussionThe present study confirms that olfactory function weights on patients’ QoL and it represents an important therapeutic goal that can also improve patients’ compliance when achieved. In a future – and present – perspective of rhinological precision medicine, an impairment of the sense of smell could help the clinician to characterize patients better and to choose the best treatment available.

Published
2023
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40. The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries

Author

Fabian, Ido Didi, Abdallah, Elhassan, Abdullahi, Shehu U, Abdulqader, Rula A, Abdulrahaman, Aminatu A, Abouelnaga, Sherif, Ademola-Popoola, Dupe S, Adio, Adedayo, Afifi, Mahmoud A, Afshar, Armin R, Aggarwal, Priyanka, Aghaji, Ada E, Ahmad, Alia, Akib, Marliyanti NR, Akinsete, Adeseye, Al Harby, Lamis, Al Mesfer, Saleh, Al Ani, Mouroge H, Alarcón Portabella, Silvia, Al-Badri, Safaa AF, Alcasabas, Ana Patricia A, Al-Dahmash, Saad A, Alejos, Amanda, Alemany-Rubio, Ernesto, Alfa Bio, Amadou I, Alfonso Carreras, Yvania, Al-Haddad, Christiane E, Al-Hussaini, Hamoud HY, Ali, Amany M, Alia, Donjeta B, Al-Jadiry, Mazin F, Al-Jumaily, Usama, Alkatan, Hind M, All-Eriksson, Charlotta, Al-Mafrachi, Ali ARM, Almeida, Argentino A, Alsawidi, Khalifa M, Al-Shaheen, Athar ASM, Al-Shammary, Entissar H, Amankwaa-Frempong, Doreen, Amiruddin, Primawita O, Armytasari, Inggar, Astbury, Nicholas J, Atalay, Hatice T, Ataseven, Eda, Atchaneeyasakul, La-ongsri, Atsiaya, Rose, Autrata, Rudolf, Balaguer, Julia, Balayeva, Ruhengiz, Barranco, Honorio, Bartoszek, Paulina, Bartuma, Katarina, Bascaran, Covadonga, Bechrakis, Nikolaos E, Beck Popovic, Maja, Begimkulova, Ainura S, Benmiloud, Sarra, Berete, Rokia C, Berry, Jesse L, Bhaduri, Anirban, Bhat, Sunil, Bhattacharyya, Arpita, Biewald, Eva M, Binkley, Elaine, Blum, Sharon, Bobrova, Nadia, Boldt, H.C., Bonanomi, Maria Teresa BC, Bouda, Gabrielle C, Bouguila, Hédi, Brennan, Rachel C, Brichard, Bénédicte G, Buaboonnam, Jassada, Budiongo, Aléine, Burton, Matthew J, Calderón-Sotelo, Patricia, Calle Jara, Doris A, Camuglia, Jayne E, Cano, Miriam R, Capra, Michael, Caspi, Shani, Cassoux, Nathalie, Castela, Guilherme, Castillo, Luis, Català-Mora, Jaume, Cavieres, Isabel, Chandramohan, Arthika, Chantada, Guillermo L, Chaudhry, Shabana, Chawla, Bhavna, Chen, Wensi, Chiwanga, Faraja S, Chuluunbat, Tsengelmaa, Cieslik, Krzysztof, Clark, Antony, Cockcroft, Ruellyn L, Comsa, Codruta, Correa Llano, Maria G, Corson, Timothy W, Couitchere, Line, Cowan-Lyn, Kristin E, Csóka, Monika, Dangboon, Wantanee, Das, Anirban, Das, Pranab, Das, Sima, Davanzo, Jacquelyn M, Davidson, Alan, De Francesco, Sonia, De Potter, Patrick, Quintero D, Karina, Demirci, Hakan, Desjardins, Laurence, Díaz Coronado, Rosdali Y, Dimaras, Helen, Dodgshun, Andrew J, Donato Macedo, Carla R, Dragomir, Monica D, Du, Yi, Du Bruyn, Magritha, Du Plessis, Johannes, Dudeja, Gagan, Eerme, Katrin, Eka Sutyawan, I Wayan, El Kettani, Asmaa, Elbahi, Amal M, Elder, James E, Elhaddad, Alaa M, Elhassan, Moawia MA, Elzembely, Mahmoud M, Ericksen, Connor, Essuman, Vera A, Evina, Ted Grimbert A, Ezegwui, Ifeoma R, Fadoo, Zehra, Fandiño, Adriana C, Faranoush, Mohammad, Fasina, Oluyemi, Fernández, Delia DPG, Fernández-Teijeiro, Ana, Foster, Allen, Frenkel, Shahar, Fu, Ligia D, Fuentes-Alabi, Soad L, Garcia, Juan L, García Aldana, David, Garcia Pacheco, Henry N, Geel, Jennifer A, Ghassemi, Fariba, Girón, Ana V, Goenz, Marco A, Gold, Aaron S, Goldberg, Hila, Gole, Glen A, Gomel, Nir, Gonzalez, Efren, Gonzalez Perez, Graciela, González-Rodríguez, Liudmira, Gorfine, Malka, Graells, Jaime, Gregersen, Pernille A, Grigorovski, Nathalia DAK, Guedenon, Koffi M, Gunasekera, D Sanjeeva, Gündüz, Ahmet K, Gupta, Himika, Gupta, Sanjiv, Gupta, Vineeta, Hadjistilianou, Theodora, Hamel, Patrick, Hamid, Syed A, Hamzah, Norhafizah, Hansen, Eric D, Harbour, J William, Hartnett, M. Elizabeth, Hasanreisoglu, Murat, Muhammad, Hassan, Hassan, Sadiq, Hassan, Shadab, Hautz, Wojciech, Haydar, Huda, Hederova, Stanislava, Hessissen, Laila, Hongeng, Suradej, Hordofa, Diriba F, Hubbard, G. Baker, Hummelen, Marlies, Husakova, Kristina, Hussein Al-Janabi, Allawi N, Ibanga, Affiong, Ida, Russo, Ilic, Vesna R, Islamov, Ziyavuddin, Jairaj, Vivekaraj, Janjua, Teyyeb, Jeeva, Irfan, Ji, Xunda, Jo, Dong Hyun, Jones, Michael M, Kabesha Amani, Theophile B, Kabore, Rolande L, Kaliki, Swathi, Kalinaki, Abubakar, Kamsang, Pius, Kantar, Mehmet, Kapelushnik, Noa, Kardava, Tamar, Kebudi, Rejin, Keomisy, Jonny, Kepak, Tomas, Ketteler, Petra, Khan, Zohora J, Khaqan, Hussain A, Khetan, Vikas, Khodabande, Alireza, Khotenashvili, Zaza, Kim, Jonathan W, Kim, Jeong Hun, Kiratli, Hayyam, Kivela, Tero T., Klett, Artur, Koç, Irem, Kosh Komba Palet, Jess Elio, Krivaitiene, Dalia, Kruger, Mariana, Kulvichit, Kittisak, Kuntorini, Mayasari W, Kyara, Alice, Lam, Geoffrey C, Larson, Scott A, Latinović, Slobodanka, Laurenti, Kelly D, Lavy, Yotam, Lavric Groznik, Alenka, Leverant, Amy A, Li, Cairui, Li, Kaijun, Limbu, Ben, Liu, Chun-Hsiu, Quah, BoonLong, López, Juan P, Lukamba, Robert M, Luna-Fineman, Sandra, Lutfi, Delfitri, Lysytsia, Lesia, Madgar, Shiran, Magrath, George N, Mahajan, Amita, Maitra, Puja, Maka, Erika, Makimbetov, Emil K, Maktabi, Azza, Maldonado, Carlos, Mallipatna, Ashwin, Manudhane, Rebecca, Manzhuova, Lyazat, Martín-Begue, Nieves, Masud, Sidra, Matende, Ibrahim O, Mattosinho, Clarissa CDS, Matua, Marchelo, Mayet, Ismail, Mbumba, Freddy B, McKenzie, John D, Mehrvar, Azim, Mengesha, Aemero A, Menon, Vikas, Mercado, Gary John V, Mets, Marilyn B, Midena, Edoardo, Miller, Audra, Mishra, Divyansh KC, Mndeme, Furahini G, Mohamedani, Ahmed A, Mohammad, Mona T, Moll, Annette C, Montero, Margarita M, Moreira, Claude, Mruthyunjaya, Prithvi, Msina, Mchikirwa S, Msukwa, Gerald, Mudaliar, Sangeeta S, Muma, Kangwa I M, Munier, Francis L, Murray, Timothy G, Musa, Kareem O, Mushtaq, Asma, Musika, Anne A, Mustak, Hamzah, Mustapha, Tajudeen, Muyen, Okwen M, Myezo, Khumo H, Naidu, Gita, Naidu, Natasha, Nair, Akshay Gopinathan, Natarajan, Sundaram, Naumenko, Larisa, Ndoye Roth, Paule Aïda, Nency, Yetty M, Neroev, Vladimir, Ng, Yvonne, Nikitovic, Marina, Nkanga, Elizabeth D, Nkumbe, Henry E, Numbi, Marcel N, Nummi, Kalle, Nuruddin, Murtuza, Nyaywa, Mutale, Nyirenda, Chinsisi, Obono-Obiang, Ghislaine, Oliver, Scott CN, Oporto, Joaquin, Ortega-Hernández, Miriam, Oscar, Alexander H, Ossandon, Diego, Pagarra, Halimah, Paintsil, Vivian, Paiva, Luisa, Palanivelu, Mahesh Shanmugam, Papyan, Ruzanna, Parrozzani, Raffaele, Pascual Morales, Claudia R, Paton, Katherine E, Pe'er, Jacob, Peralta Calvo, Jesús, Perić, Sanja, Pham, Chau TM, Philbert, Remezo, Plager, David A, Pochop, Pavel, Polania, Rodrigo A., Polyakov, Vladimir, Ponce, Jimena, Qadir, Ali O, Qayyum, Seema, Qian, Jiang, Refaeli, David, Rahman, Ardizal, Rajkarnikar, Purnima, Ramanjulu, Rajesh, Ramasubramanian, Aparna, Ramirez-Ortiz, Marco A, Randhawa, Jasmeen K, Randrianarisoa, Hoby Lalaina, Raobela, Léa, Rashid, Riffat, Reddy, M.A., Renner, Lorna A, Reynders, David, Ribadu, Dahiru, Ritter-Sovinz, Petra, Rogowska, Anna, Rojanaporn, Duangnate, Romero, Livia, Roy, Soma R, Saab, Raya H, Saakyan, Svetlana, Sabhan, Ahmed H, Sagoo, Mandeep S, Said, Azza MA, Saiju, Rohit, Salas, Beatriz, San Román Pacheco, Sonsoles, Sánchez, Gissela L, Sanchez Orozco, Alma Janeth, Sayalith, Phayvanh, Scanlan, Trish A, Schlüter, Sabrina, Schwab, Christoph, Sedaghat, Ahad, Seth, Rachna, Sgroi, Mariana, Shah, Ankoor S, Shakoor, Shawkat A, Sharma, Manoj K, Sherief, Sadik T, Shields, Carol L, Sia, David, Siddiqui, Sorath Noorani, Sidi cheikh, Sidi, Silva, Sónia, Singh, Arun D, Singh, Usha, Singha, Penny, Sitorus, Rita S, Skalet, Alison H, Soebagjo, Hendrian D, Sorochynska, Tetyana, Ssali, Grace, Stacey, Andrew W, Staffieri, Sandra E, Stahl, Erin D, Steinberg, David M, Stones, David K, Strahlendorf, Caron, Suarez, Maria Estela Coleoni, Sultana, Sadia, Sun, Xiantao, Superstein, Rosanne, Supriyadi, Eddy, Surukrattanaskul, Supawan, Suzuki, Shigenobu, Svojgr, Karel, Sylla, Fatoumata, Tamamyan, Gevorg, Tan, Deborah, Tandili, Alketa, Tang, Jing, Tarrillo Leiva, Fanny F, Tashvighi, Maryam, Tateshi, Bekim, Teh, Kok Hoi, Tehuteru, Edi S, Teixeira, Luiz F, Tekavcic Pompe, Manca, Thawaba, Abdullah Dahan M, Theophile, Tuyisabe, Toledano, Helen, Trang, Doan L, Traoré, Fousseyni, Tripathy, Devjyoti, Tuncer, Samuray, Tyau-Tyau, Harba, Umar, Ali B, Unal, Emel, Uner, Ogul E, Urbak, Steen F, Ushakova, Tatiana L, Usmanov, Rustam H, Valeina, Sandra, Valente, Paola, van Hoefen Wijsard, Milo, Vasquez Anchaya, Jacqueline Karina, Vaughan, Leon O, Veleva-Krasteva, Nevyana V, Verma, Nishant, Victor, Andi A, Viksnins, Maris, Villacís Chafla, Edwin G, Villegas, Victor M, Vishnevskia-Dai, Victoria, Waddell, Keith, Wali, Amina H, Wang, Yi-Zhuo, Wangtiraumnuay, Nutsuchar, Wetter, Julie, Widiarti, Widiarti, Wilson, Matthew W, Wime, Amelia DC, Wiwatwongwana, Atchareeya, Wiwatwongwana, Damrong, Wolley Dod, Charlotte, Wong, Emily S, Wongwai, Phanthipha, Wu, Si-qi, Xiang, Daoman, Xiao, Yishuang, Xu, Bing, Xue, Kang, Yaghy, Antonio, Yam, Jason C, Yang, Huasheng, Yanga, Jenny M, Yaqub, Muhammad A, Yarovaya, Vera A, Yarovoy, Andrey A, Ye, Huijing, Yee, Roberto I, Yousef, Yacoub A, Yuliawati, Putu, Zapata López, Arturo M, Zein, Ekhtelbenina, Zhang, Yi, Zhilyaeva, Katsiaryna, Zia, Nida, Ziko, Othman AO, Zondervan, Marcia, and Bowman, Richard

Published
2022
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43. Conventional Versus Regenerative Methods for Wound Healing: A Comparative Experimental Study on a Sheep Model.

Author

Elia, Rossella, Maruccia, Michele, Di Summa, Pietro Giovanni, Trisciuzzi, Rodrigo, Lovero, Giuditta, Cazzato, Gerardo, Lacitignola, Luca, Staffieri, Francesco, and Crovace, Alberto Maria

Subjects
WOUND healing, CHRONIC wounds & injuries, SURGICAL site, HAIR follicles, NEOVASCULARIZATION
Abstract

Background and Objectives: Wound healing is a complex process involving cellular, anatomical, and functional repair, often hindered in chronic wounds associated with diseases like diabetes and vascular disorders. This study investigated the efficacy of conventional and regenerative wound healing approaches in a sheep surgical wound model. Materials and Methods: Six female Bergamasca sheep underwent five full-thickness skin lesions treated with various methods: sterile gauze (control), chlorhexidine, sodium hypochlorite, micronized dermis system application, and dermal matrix. Wound healing progression was monitored over 42 days through wound dimension measurements, exudate analysis, and histopathological evaluations. Results: The results indicated that all wounds healed completely by day 42, with significant reductions in wound size and exudate over time. Notably, Micronized dermis system application and dermal matrix treatments showed a faster evolution in exudate characteristics and improved collagen reorganization compared to other treatments. Histological analysis revealed earlier neovascularization and better reconstitution of hair follicles in these groups. Despite the lack of significant differences in healing time, both regenerative approaches enhanced wound healing phases, contributing to exudate control, angiogenesis promotion, and reduced scar formation. Conclusions: The findings suggest that while micronized dermis system application and dermal matrix do not accelerate acute wound healing compared to conventional methods, they offer potential benefits in managing exudate and improving tissue regeneration, warranting further investigation in chronic wound scenarios. [ABSTRACT FROM AUTHOR]

Published
2024
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44. Gestione della ventilazione nel cane e nel gatto in anestesia generale: lo stato dell’arte, le buone pratiche e le eventuali complicazioni.

Author

Staffieri, Francesco

Abstract

Copyright of Summa, Animali da Compagnia is the property of Point Veterinaire Italie s.r.l. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024

45. Effects of a feed supplement, containing undenatured type II collagen (UC II®) and Boswellia Serrata, in the management of mild/moderate mobility disorders in dogs: A randomized, double-blind, placebo controlled, cross-over study.

Author

Stabile, Marzia, Fracassi, Laura, Lacitignola, Luca, Garcia-Pedraza, Elena, Girelli, Chiara Roberta, Calculli, Crescenza, D'Uggento, Angela Maria, Ribecco, Nunziata, Crovace, Antonio, Fanizzi, Francesco Paolo, and Staffieri, Francesco

Subjects
JOINT pain, PAIN threshold, SYNOVIAL fluid, CROSSOVER trials, DIETARY supplements
Abstract

This study was designed as a randomized, placebo-controlled, double-blinded, cross-over trial performed to investigate the effects of a dietary supplement containing undenatured type II collagen (UCII®) and Boswellia Serrata on mobility, pain and joint metabolism in mild moderate osteoarthritis (OA) in dogs. A total of 60 dogs with mobility problems were evaluated and enrolled in the study. Seventeen of these dogs with mild/moderate OA were randomized to receive the product A (UCII® + Boswellia Serrata supplement–UCII®-BW) or product B (Placebo -PL), 1 chew per day for 8 weeks by oral route, and repeated in a crossover design after 4 weeks of washout period. All the subjects had veterinary evaluations during the trial and owners were requested to fill out a questionnaire on mobility impairment using the Liverpool Osteoarthritis in dogs scale (L.O.A.D.) at each time of the study. Objective tools were used to assess mobility, activity, and pain. Metabolomic analysis was performed on synovial fluid of most affected joint at the beginning and the end of the study. The results proved that UCII®+Boswellia serrata supplemented group over a period of eight weeks results in an improvement of mobility impairment, already at 4 weeks of administration, according to the owner´s evaluation. In contrast, its absence increased the risk of OA crisis and decreased the pain threshold on the most affected joint. Furthermore, the synovial fluid metabolic profile showed moderate differences between the beginning and the end of the supplementation period, with a particular influence associated to the time of UCII®-BW administration. [ABSTRACT FROM AUTHOR]

Published
2024
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46. Pressure-Sensitive Walkway System for Evaluation of Lameness in Dogs Affected by Unilateral Cranial Cruciate Ligament Rupture Treated with Porous Tibial Tuberosity Advancement

Author

Marta Guadalupi, Alberto Maria Crovace, Donato Monopoli Forleo, Francesco Staffieri, and Luca Lacitignola

Subjects
cranial cruciate ligament rupture, TTA, dog, gait analysis, Veterinary medicine, SF600-1100
Abstract

The aim of this study was to objectively evaluate lameness in dogs affected by a unilateral cranial cruciate ligament rupture (CrCLR) treated with porous tibial tuberosity advancement before surgery and at three different timepoints after surgery, using the GAITRite® system (version 4.9Wr), a pressure-sensitive walkway system that is able to calculate several spatiotemporal gait parameters simultaneously for each limb. The dogs walked on the pressure-sensitive walkway before (T0) and 30 (T1), 90 (T2), and 120 (T3) days after surgery. Pressure measurements (gait lameness score and total pressure index %) were collected for S (treated with porous TTA) and C (healthy contralateral limb) at T0, T1, T2, and T3 and statistically evaluated. An ANOVA test was performed to compare the data, and a value of p < 0.05 was considered significant. Twenty dogs (n = 20) of various common breeds and ages with CrCLR were enrolled in the study. The results showed that there was a statistically significant difference in the GAIT4Dog® lameness score (GLS) and TPI% between S and C for each timepoint. Statistically significant differences in the GLS and TPI% between S at T0 and S at T2 and between S at T0 and S at T3 (p < 0.001) were found. The results showed that there was a statistically significant difference in the GAIT4Dog® lameness score (GLS) and TPI% between S and C for each timepoint. Statistically significant differences in the GLS and TPI% between S at T0 and S at T2 and between S at T0 and S at T3 were found. The GLS and TPI% increased statistically significantly from 90 days after surgery compared to the preoperative measurements. Moreover, comparing the GLS and TPI% between the treated limb and the control limb showed that a statistically significant difference remained at each timepoint.

Published
2023
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47. Evaluation of a constant rate intravenous infusion of dexmedetomidine on the duration of a femoral and sciatic nerve block using lidocaine in dogs

Author

Marzia Stabile, Luca Lacitignola, Claudia Acquafredda, Annalaura Scardia, Antonio Crovace, and Francesco Staffieri

Subjects
adjuvant, block duration, dexmedetomidine, dog, lidocaine, sensory blockade, Veterinary medicine, SF600-1100
Abstract

ObjectivesThis study investigated the effects of 1 μg/kg/h intravenous constant rate infusion (CRI) of dexmedetomidine on the sensory and motor blockade for femoral and sciatic nerve blocks in dogs undergoing stifle surgery.Materials and methodsClient-owned dogs referred for stifle surgery were enrolled in this prospective, randomized, blinded study. Dogs were pre-medicated with acepromazine (0.005–0.01 mg/kg intramuscularly, IM); anesthesia was induced with propofol intravenously and maintained with isoflurane in a mixture of air and oxygen. Electrolocation-guided sciatic and femoral nerve blocks with lidocaine 2% (0.15 mL/kg) were performed using the parasacral and lateral pre-iliac approaches, respectively. After performing local block, a systemic infusion of saline solution (group C) or dexmedetomidine (group D) was started at a CRI at 1 ml/kg/h and continued until the end of surgery. Dexmedetomidine was infused at a dose of 1 μg/kg/h. Respiratory and hemodynamic variables were recorded during surgery. Sensory and motor blockade was evaluated by response to pinching the skin innervated by the sciatic/femoral nerves, with forceps and by observing the dogs' ability to walk and testing proprioception at 30, 60, 120, 180, and 240 min after extubation. Analgesia was monitored with SF-GCPS. Methadone IM was administered as rescue analgesia. Intraoperative data were analyzed by analysis of variance, while postoperative data were analyzed by the independent two-tailed t-test and a Kaplan–Meier test (p < 0.05).ResultsTwenty dogs were included in this study (10/group). A significant difference in the recovery of sensory nerve function was observed between the groups. The mean durations of the sensory blockade for femoral and sciatic nerves, respectively, was longer (p < 0.001) for group D [168 (146–191, 95% CI), 161 (143–179, 95% CI) min] than in group C [120 (96.1–144, 95% CI), 116 (90.9–142, 95% CI]. No differences in the recovery of patellar and tibial reflexes, proprioceptive function, and ability to walk were found among groups. The overall postoperative rescue analgesia requirement was significantly different (p = 0.019) between groups, with an incidence of 5/10 (50%) dogs in group D and 10/10 (100%) dogs in group C.ConclusionDexmedetomidine administered as a CRI (1 μg/kg/h) combined with local lidocaine increases the duration of the sensory component of the sciatic and femoral nerve blocks and reduces the requirement for additional analgesia during the immediate postoperative hours.

Published
2023
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48. Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Author

Iglesias, Adriana I, Mishra, Aniket, Vitart, Veronique, Bykhovskaya, Yelena, Höhn, René, Springelkamp, Henriët, Cuellar-Partida, Gabriel, Gharahkhani, Puya, Bailey, Jessica N Cooke, Willoughby, Colin E, Li, Xiaohui, Yazar, Seyhan, Nag, Abhishek, Khawaja, Anthony P, Polašek, Ozren, Siscovick, David, Mitchell, Paul, Tham, Yih Chung, Haines, Jonathan L, Kearns, Lisa S, Hayward, Caroline, Shi, Yuan, van Leeuwen, Elisabeth M, Taylor, Kent D, Blue Mountains Eye Study—GWAS group, Bonnemaijer, Pieter, Rotter, Jerome I, Martin, Nicholas G, Zeller, Tanja, Mills, Richard A, Souzeau, Emmanuelle, Staffieri, Sandra E, Jonas, Jost B, Schmidtmann, Irene, Boutin, Thibaud, Kang, Jae H, Lucas, Sionne EM, Wong, Tien Yin, Beutel, Manfred E, Wilson, James F, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2 (WTCCC2), Uitterlinden, André G, Vithana, Eranga N, Foster, Paul J, Hysi, Pirro G, Hewitt, Alex W, Khor, Chiea Chuen, Pasquale, Louis R, Montgomery, Grant W, Klaver, Caroline CW, Aung, Tin, Pfeiffer, Norbert, Mackey, David A, Hammond, Christopher J, Cheng, Ching-Yu, Craig, Jamie E, Rabinowitz, Yaron S, Wiggs, Janey L, Burdon, Kathryn P, van Duijn, Cornelia M, and MacGregor, Stuart

Subjects
Blue Mountains Eye Study—GWAS group, NEIGHBORHOOD Consortium, Wellcome Trust Case Control Consortium 2, Cornea, Humans, Marfan Syndrome, Corneal Diseases, Corneal Dystrophies, Hereditary, Keratoconus, Eye Diseases, Hereditary, Glaucoma, Open-Angle, Myopia, Ehlers-Danlos Syndrome, Proteoglycans, Gene Expression, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome, Human, Asian Continental Ancestry Group, European Continental Ancestry Group, Transforming Growth Factor beta2, Genome-Wide Association Study, Loeys-Dietz Syndrome, Mendelian Randomization Analysis, Decorin, Lumican, Fibrillin-1, ADAMTS Proteins, Corneal Dystrophies, Hereditary, Eye Diseases, Glaucoma, Open-Angle, Quantitative Trait, Heritable, Polymorphism, Single Nucleotide, Genome, Human
Abstract

Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r = -0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r = -0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation.

Published
2018

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