Article
Surgery
Meghan Aversa, Tereza Martinu, Christopher Patriquin, Marcelo Cypel, David Barth, Rasheed Ghany, Jin Ma, Shaf Keshavjee, Lianne G. Singer, Kathryn Tinckam
Summary: The Toronto Lung Transplant Program has been using a desensitization regimen since 2008 for DSA-positive lung transplants, and long-term follow-up showed that allograft survival and CLAD-free survival of these patients were not significantly different from other lung transplant recipients.
AMERICAN JOURNAL OF TRANSPLANTATION
(2021)
Article
Medicine, General & Internal
Felix J. Krendl, Franka Messner, Claudia Boesmueller, Stefan Scheidl, Benno Cardini, Thomas Resch, Annemarie Weissenbacher, Rupert Oberhuber, Manuel Maglione, Stefan Schneeberger, Dietmar Oefner, Christian Margreiter
Summary: The study evaluated the incidence and impact of post-transplant malignancies (PTMs) following pancreas transplantation, with skin cancers being the most common type. Patients with solid organ and hematologic malignancies had a significantly higher risk of death compared to those with skin cancers following pancreas transplantation.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Gastroenterology & Hepatology
Toshihiko Arizumi, Susumu Tazuma, Hiroyuki Isayama, Takahiro Nakazawa, Toshio Tsuyuguchi, Hajime Takikawa, Atsushi Tanaka
Summary: This study investigated the association between UDCA treatment and improved LT-free survival in a cohort of Japanese PSC patients.
JOURNAL OF GASTROENTEROLOGY
(2022)
Article
Genetics & Heredity
Shan Chen, Yuqing Xu, Yeqing Qian, Zhaohui Li, Minyue Dong
Summary: This study identified a genetic mutation associated with severe immunodeficiency and demonstrated its pathogenicity through experimental validation. This research has important implications for genetic counseling, prenatal diagnosis, and preimplantation genetic testing for immunodeficiency.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Binkai Chi, Muhammet M. Oeztuerk, Christina L. Paraggio, Claudia E. Leonard, Maria E. Sanita, Mahtab Dastpak, Jeremy D. O'Connell, Jordan A. Coady, Jiuchun Zhang, Steven P. Gygi, Rodrigo Lopez-Gonzalez, Shanye Yin, Robin Reed
Summary: Mutations in RNA/DNA-binding proteins can cause ALS, but the exact disease mechanisms are still unclear. This study found that a group of ALS-associated proteins can affect the expression of genes involved in the MHC II antigen presentation pathway. Additionally, hematopoietic progenitor cells with mutations also exhibit disrupted MHC II expression. These findings suggest that the loss of the MHC II pathway may result in the immune system's failure to protect motor neurons from ALS-related damage.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Urology & Nephrology
Thomas Vanhove, Nahel Elias, Kassem Safa, Abraham Cohen-Bucay, Jesse D. Schold, Leonardo V. Riella, Hannah Gilligan
Summary: The aging population of kidney transplant recipients in the United States may face challenges in traditional outcome metrics. This study demonstrates that multistate models provide a more accurate and comprehensive assessment of the life course of kidney transplant recipients, particularly for older recipients who are more susceptible to overestimation of event rates and worse outcomes after graft failure.
KIDNEY INTERNATIONAL REPORTS
(2022)
Article
Cardiac & Cardiovascular Systems
David A. Baran, Justin Lansinger, Ashleigh Long, John M. Herre, Amin Yehya, Edward J. Sawey, Amit P. Badiye, Wayne Old, Jack Copeland, Kelly Stelling, Hannah Copeland
Summary: The study examined the long-term survival of heart transplants in the recent era, finding no significant differences in post-transplant mortality based on toxicological and historical data. Factors positively associated with survival included lower donor age and shorter ischemic time.
CIRCULATION-HEART FAILURE
(2021)
Article
Neurosciences
Ruiwen Che, Mengke Zhang, Hailiang Sun, Jin Ma, Wenbo Hu, Xin Liu, Xunming Ji
Summary: Nearly 50% of CAAH patients achieved favorable outcomes at long-term follow-up. GCS, recurrence of ICH, WML grade, and cerebral atrophy were identified as independent prognostic factors of long-term outcome.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Article
Oncology
Dimitrios K. Manatakis, Maria Tzardi, John Souglakos, John Tsiaoussis, Christos Agalianos, Ioannis D. Kyriazanos, George Pechlivanides, Athanasios Kordelas, Nikolaos Tasis, Nikolaos Gouvas, Evaghelos Xynos
Summary: This study assessed the surgical outcomes of patients with colon cancer and found that factors such as hospital survival, radical resection, and complications had a significant impact on the success of the surgery. In addition, the success of the surgery was also associated with factors such as patient age, tumor location, and pathological type. Patients who achieved surgical success had better long-term cancer survival.
Article
Cardiac & Cardiovascular Systems
Oliver K. Jawitz, Vignesh Raman, David Becerra, Jacob Klapper, Matthew G. Hartwig
Summary: This study aimed to identify factors associated with survival beyond a decade after lung transplant. The results showed that approximately one-quarter of lung transplant recipients survived 10 years post-transplant. There were different factors associated with 1-year and 10-year survival, and the Lung Allocation Score did not impact long-term survival. Further research is needed to improve patient selection and management strategies to increase long-term survival.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Biochemistry & Molecular Biology
M. Cortazar-Chinarro, A. Richter-Boix, P. Rodin-Morch, P. Halvarsson, J. B. Logue, A. Laurila, J. Hoglund
Summary: Microbiomes play a crucial role in determining the ecology and behavior of their hosts. This study investigated the effects of geography, evolutionary history, and host genetics on the skin microbiome diversity and structure in a widespread amphibian. The results showed that microbiome diversity was correlated with host genetic diversity, and the bacterial community composition varied between geographical clusters and specific host genetic variations.
Article
Gastroenterology & Hepatology
Naaventhan Palaniyappan, Emily Peach, Fiona Pearce, Amritpal Dhaliwal, Isabel Campos-Varela, Matthew R. Cant, Cristina Dopazo, James Trotter, Sapna Divani-Patel, Ayiesha A. Z. Hatta, Laurence Hopkins, Giuliano Testa, Angela Bilbao, Zain Kasmani, Sarah Faloon, Darius F. Mirza, Goran B. Klintmalm, Itxarone Bilbao, Sumeet K. Asrani, Neil Rajoriya, Aloysious D. Aravinthan
Summary: This study evaluated the long-term outcomes of liver transplant recipients who survived the first 5 years. The study found that the mortality rate was higher for males compared to the general population, as well as for older recipients and donors. Predictors of long-term mortality included malignancy, cardiovascular disease, and dialysis. Implementing strategies such as non-invasive cancer screening and cardiovascular prevention could improve survival.
LIVER TRANSPLANTATION
(2023)
Article
Oncology
Danilo Hackner, Mirianna Hobbs, Susanne Merkel, Timo Siepmann, Christian Krautz, Georg F. Weber, Robert Gruetzmann, Maximilian Brunner
Summary: This retrospective study aimed to evaluate the impact of age on postoperative short-term and long-term outcomes in patients undergoing curative pancreatic resection for pancreatic ductal adenocarcinoma (PDAC). The study found that despite older age, pancreatic resections had comparable short-term outcomes. However, age significantly influenced overall and disease-free survival in PDAC patients undergoing primary resection in curative intent, emphasizing the importance of individualizing treatment decisions based on age.
Article
Multidisciplinary Sciences
Jin-Myung Kim, Youngmin Ko, Minha Choi, Hye Eun Kwon, Jae Jun Lee, Joo Hee Jung, Hyunwook Kwon, Young Hoon Kim, Sung Shin
Summary: Simultaneous deceased donor pancreas and living donor kidney transplant (SPLK) offers advantages over conventional simultaneous pancreas-kidney transplant (SPK) and can help address the shortage of organs for diabetic patients. A comparison of clinical outcomes between SPK and SPLK showed no significant differences in baseline characteristics except for certain factors. SPLK had lower pancreas graft survival rate and higher incidence of pancreas graft rejection. However, there were no significant differences in de novo DSA presence, kidney graft failure, kidney graft rejection, and mortality rates.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Yuanyuan Cheng, Catherine Grueber, Carolyn J. Hogg, Katherine Belov
Summary: The major histocompatibility complex (MHC) is crucial for the vertebrate immune system, but accurately characterizing MHC genetic diversity in non-model species is technically challenging due to gene duplication and diversification. A new long-read based MHC typing method has been developed to address these challenges and provide better solutions for high accuracy MHC typing in research. This approach allows for population-scale MHC typing in various species, revealing new insights into genetic diversity.
MOLECULAR ECOLOGY RESOURCES
(2022)
Article
Hematology
Su Han Lum, Paul J. Orchard, Troy C. Lund, Weston P. Miller, Jaap Jan Boelens, Robert Wynn
Summary: The study reports the outcomes of cord blood transplantation in children with Hurler syndrome using a pharmacokinetics-targeted myeloablative conditioning regimen. The overall survival rate was 88%, and the engrafted survival rate was 79%. Different conditioning regimens had varying effects on patient survival rates.
TRANSPLANTATION AND CELLULAR THERAPY
(2021)
Editorial Material
Pediatrics
Christo Tsilifis, Ina Schim van der Loeff, Eleri Williams, Stephen Owens, Steven Powell, Andrew Gennery, Mary Slatter
ARCHIVES OF DISEASE IN CHILDHOOD-EDUCATION AND PRACTICE EDITION
(2022)
Article
Hematology
Sandheeah Ramdeny, Asima Chaudhary, Austen Worth, Sara Ghorashian, Mary Slatter, Su Han Lum, Ajay Vora
Summary: This study reported two patients with B-precursor acute lymphoblastic leukemia (BCP-ALL) and congenital T-cell immunodeficiency who achieved excellent responses to blinatumomab, demonstrating the efficacy of this antibody in such patients.
Article
Immunology
Nesrine Radwan, Zohreh Nademi, Su Han Lum, Terry Flood, Mario Abinun, Stephen Owens, Eleri Williams, Andrew R. Gennery, Sophie Hambleton, Mary A. Slatter
Summary: This retrospective survey found that HSCT can be a successful treatment for patients with mycobacterial susceptibility, even with disseminated infection and in the absence of an HLA matched donor.
JOURNAL OF CLINICAL IMMUNOLOGY
(2021)
Article
Pediatrics
Peter McNaughton, Sophie Willcocks, Su Han Lum, Ben Whitehead, Jane Peake, Kahn Preece
Summary: This study retrospectively evaluated the utility of genetic testing for patients with periodic fever syndromes and found that the European classification criteria may be a potentially useful tool for guiding diagnosis, while clinical judgement remains essential. The diagnostic yield of genetic testing in this cohort was low, suggesting it may be more useful for confirming strong clinical suspicions than clarifying diagnoses for patients with less clear symptoms.
JOURNAL OF PAEDIATRICS AND CHILD HEALTH
(2022)
Letter
Biophysics
Hawazen AlSaedi, Reem Mohammed, Khawar Siddiqui, Ali Al-Ahmari, Bandar AlSaud, Hamoud Almousa, Abdullah Al-Jefri, Ibrahim Ghemlas, Awatif AlAnazi, Amal Al-Seraihy, Hassan El-Solh, Mouhab Ayas
BONE MARROW TRANSPLANTATION
(2022)
Article
Hematology
Su Han Lum, Sinead Greener, Inigo Perez-Heras, Daniel Drozdov, Rebecca P. Payne, Helen Watson, Kay Carruthers, Robert January, Zohreh Nademi, Stephen Owens, Eleri Williams, Sheila Waugh, Shirelle Burton-Fanning, Timmothy Ronan Leahy, Andrew Cant, Mario Abinun, Terry Flood, Sophie Hambleton, Andrew R. Gennery, Mary Slatter
Summary: This study compared the outcomes of hematopoietic cell transplantation using alemtuzumab and TCR alpha beta/CD19 depletion. The results showed that in younger patients, both methods had comparable survival rates, while in older patients, the use of alemtuzumab had higher survival rates. Additionally, transplantation with TCR alpha beta/CD19 depletion led to a higher incidence of viremia and delayed CD3 reconstitution.
Letter
Pediatrics
Christo Tsilifis, Karen Hartley, Nicola Vasey, Terry Flood, Alexandra Battersby, Flora McErlane, Eleri Williams
ARCHIVES OF DISEASE IN CHILDHOOD
(2022)
Article
Immunology
Christo Tsilifis, Su Han Lum, Zohreh Nademi, Sophie Hambleton, Terence J. Flood, Eleri J. Williams, Stephen Owens, Mario Abinun, Andrew J. Cant, Mary A. Slatter, Andrew R. Gennery
Summary: Hematopoietic stem cell transplantation and gene therapy are the only curative therapies for severe combined immunodeficiency (SCID). This study found that TCR alpha beta-HaploSCT has comparable outcomes to matched unrelated donor transplants (MUD) and conditioning improves myeloid chimerism and immunoglobulin freedom in long-term survivors.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Article
Immunology
Elisabetta Ghimenton, Aisling Flinn, Su Han Lum, Timothy R. Leahy, Zohreh Nademi, Stephen Owens, Eleri Williams, Terrence Flood, Sophie Hambleton, Mary Slatter, Andrew R. Gennery
Summary: In the treatment of ADA-SCID patients with HSCT, chemotherapy conditioning, the use of alemtuzumab, and receiving stem cells from unrelated or haploidentical donors contribute to improved survival rates. Results of HSCT have improved since 2007, with no deaths reported and a low incidence of acute graft-versus-host disease (GvHD). Conditioned HSCT with matched unrelated donors has a favorable outcome for ADA-deficient patients.
JOURNAL OF CLINICAL IMMUNOLOGY
(2022)
Letter
Clinical Neurology
Peter McNaughton, Rebecca Payne, Sophia Michael, Timothy Leahy, Alexander Nicols, Andrew Fower, Sophie Hambleton, Ki Pang, Andrew Gennery, Sarosh R. Irani
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2022)
Article
Immunology
Aurelien Sokal, Paul Bastard, Pascal Chappert, Giovanna Barba-Spaeth, Slim Fourati, Alexis Vanderberghe, Pauline Lagouge-Roussey, Isabelle Meyts, Adrian Gervais, Magali Bouvier-Alias, Imane Azzaoui, Ignacio Fernandez, Andrea de la Selle, Qian Zhang, Lucy Bizien, Isabelle Pellier, Agnes Linglart, Anya Rothenbuhler, Estelle Marcoux, Raphael Anxionnat, Nathalie Cheikh, Juliane Leger, Blanca Amador-Borrero, Fanny Fouyssac, Vanessa Menut, Jean-Christophe Goffard, Caroline Storey, Caroline Demily, Coralie Mallebranche, Jesus Troya, Aurora Pujol, Marie Zins, Pierre Tiberghien, Paul E. Gray, Peter McNaughton, Anna Sullivan, Jane Peake, Romain Levy, Laetitia Languille, Carlos Rodiguez-Gallego, Bertrand Boisson, Sebastien Gallien, Benedicte Neven, Marc Michel, Bertrand Godeau, Laurent Abel, Felix A. Rey, Jean-Claude Weill, Claude-Agnes Reynaud, Stuart G. Tangye, Jean-Laurent Casanova, Matthieu Mahevas
Summary: Intact B cell responses to SARS-CoV-2 mRNA vaccines were observed in patients with genetic or acquired type I IFN deficiencies, indicating that type I IFNs induced by mRNA vaccines are not necessary for vaccine efficacy. This study suggests that the generation of a humoral response against SARS-CoV-2 by mRNA vaccines does not require the induction of type I IFN.
JOURNAL OF EXPERIMENTAL MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Tatiane Yanes, Anna Sullivan, Pasquale Barbaro, Kristian Brion, Georgina Hollway, Jane Peake, Peter McNaughton
Summary: Molecular diagnosis of paediatric inborn errors of immunity (IEI) has significant impact on management decisions and clinical outcomes. To address the growing demand for genetic services, a mainstreaming model of care was developed and evaluated, resulting in improved access to genomic testing and treatment decision-making in paediatric IEI. The model included a genetic counsellor, multidisciplinary team meetings, and variant prioritisation meetings to review genomic data.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)