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JOURNAL ARTICLE
Sarah E Rutstein, Mitch Matoga, Jane S Chen, Esther Mathiya, Beatrice Ndalama, Naomi Nyirenda, Naomi Bonongwe, Shyreen Chithambo, Maganizo Chagomerana, Gerald Tegha, Mina C Hosseinipour, Michael E Herce, Edward Jere, Robert G Krysiak, Irving F Hoffman
BACKGROUND: Pre-exposure prophylaxis (PrEP) reduces HIV acquisition risk by >90% and is a critical lever to reduce HIV incidence. Identifying individuals most likely to benefit from PrEP and retaining them on PrEP throughout HIV risk is critical to realize PrEP's prevention potential. Individuals with sexually transmitted infections (STIs) are an obvious priority PrEP population, but there are no data from sub-Saharan Africa (SSA) confirming the effectiveness of integrating PrEP into STI clinics...
December 5, 2022: JMIR Research Protocols
#22
MULTICENTER STUDY
Amer M Zeidan, Uma Borate, Daniel A Pollyea, Andrew M Brunner, Fernando Roncolato, Jacqueline S Garcia, Robin Filshie, Olatoyosi Odenike, Anne Marie Watson, Ravitharan Krishnadasan, Ashish Bajel, Kiran Naqvi, Jiuhong Zha, Wei-Han Cheng, Ying Zhou, David Hoffman, Jason G Harb, Jalaja Potluri, Guillermo Garcia-Manero
Patients with relapsed/refractory (R/R) higher-risk myelodysplastic syndromes (MDS) have a dismal median overall survival (OS) after failing hypomethylating agent (HMA) treatment. There is no standard of care for patients after HMA therapy failure; hence, there is a critical need for effective therapeutic strategies. Herein, we present the safety and efficacy of venetoclax + azacitidine in patients with R/R MDS. This phase 1b, open-label, multicenter study enrolled patients ≥18 years...
February 2023: American Journal of Hematology
#23
JOURNAL ARTICLE
Stephanie S Handler, Titus Chan, Nancy S Ghanayem, Nancy Rudd, Gail Wright, Alexis Visotcky, Rodney Sparapani, Michael E Mitchell, George M Hoffman, Michele A Frommelt
BACKGROUND: Stage 1 palliation (S1P) for hypoplastic left heart syndrome remains associated with high morbidity and mortality. Previous studies on burden of reinterventions did not include patients who remain hospitalized before stage 2 palliation (S2P). This study described the rate of reintervention during S1P hospitalization and sought to determine the impact of reintervention on outcomes. METHODS: All participants enrolled in phase II of the National Pediatric Cardiology Quality Improvement Collaborative after S1P were included in this study...
October 25, 2022: Annals of Thoracic Surgery
#24
JOURNAL ARTICLE
Jennifer W Leiding, Tiphanie P Vogel, Valentine G J Santarlas, Rahul Mhaskar, Madison R Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M Dutmer, Svetlana O Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S Bauer, Sarah E Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E Sullivan, Eric Allenspach, Neil Romberg, Sean G Deane, Benjamin T Prince, Melissa J Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O'Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M Bartnikas, Amy Chang Berger, Tracy A Briggs, Shannon Brothers, Vanessa Bundy, Alice Y Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C Cook, Mukesh M Desai, Ute Fischer, David A Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R J Seppänen, Troy R Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G Tangye, Megan A Cooper, Joshua D Milner, Lisa R Forbes Satter
BACKGROUND: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. OBJECTIVE: This pivotal cohort study defines the scope, natural history, treatment, and overall survival of a large global cohort of patients with pathogenic STAT3 GOF variants. METHODS: We identified 191 patients from 33 countries with 72 unique mutations...
April 2023: Journal of Allergy and Clinical Immunology
#25
JOURNAL ARTICLE
Yue Zhang, Catherine C Nguyen, Nigel T Zhang, Nicolas S Fink, Jordan D John, Omkar G Venkatesh, Jonathan D Roe, Steven C Hoffman, Maciej S Lesniak, Jean-Paul Wolinsky, Craig Horbinski, Brittany M Szymaniak, Robin A Buerki, Jeffrey A Sosman, Niraj K Shenoy, Rimas V Lukas
Von Hippel Lindau (VHL) disease is a tumor predisposition syndrome caused by mutations in the VHL gene that presents with visceral neoplasms and growths, including clear cell renal cell carcinoma, and central nervous system manifestations, such as hemangioblastomas of the brain and spine. The pathophysiology involves a dysregulation of oxygen sensing caused by inability to degrade HIFα, leading to overactivation of hypoxic pathways. Hemangioblastomas are the most common tumors in patients with VHL and cause significant morbidity...
October 10, 2022: Neuro-oncology
#26
JOURNAL ARTICLE
Jeffrey A Zonder, Joshua Richter, Naresh Bumma, Jason Brayer, James E Hoffman, William I Bensinger, Ka Lung Wu, Linzhi Xu, Dhruti Chokshi, Anita Boyapati, Damien Cronier, Yariv Houvras, Karen Rodriguez Lorenc, Glenn S Kroog, Madhav V Dhodapkar, Suzanne Lentzsch, Dennis Cooper, Sundar Jagannath
CONTEXT: Despite advances in treatment options, multiple myeloma remains incurable. REGN5458 is a BCMAxCD3 bispecific antibody under investigation in relapsed/refractory multiple myeloma (RRMM): ongoing Phase 1/2 trial (NCT03761108). OBJECTIVE: To describe updated safety, overall response, and response durability in patients treated with REGN5458 in the Phase 1 part. DESIGN: The Phase 1 part follows a modified 3+3 dose-escalation design (4+3)...
October 2022: Clinical Lymphoma, Myeloma & Leukemia
#27
JOURNAL ARTICLE
Micol Romano, Z Serap Arici, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl S Barron, Susanne Benseler, Roberta Berard, Lori Broderick, Fatma Dedeoglu, Michelle Diebold, Karen L Durrant, Polly Ferguson, Dirk Foell, Jonathan Hausmann, Olcay Y Jones, Daniel L Kastner, Helen J Lachmann, Ronald M Laxer, Dorelia Rivera, Nicolino Ruperto, Anna Simon, Marinka Twilt, Joost Frenkel, Hal Hoffman, Adriana A de Jesus, Jasmin Beate Kuemmerle-Deschner, Seza Ozen, Marco Gattorno, Raphaela Goldbach-Mansky, Erkan Demirkaya
BACKGROUND: The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and deficiency of the IL-1 receptor antagonist (DIRA), belong to a group of rare immunodysregulatory diseases that primarily present in early childhood with variable multiorgan involvement. When untreated, patients with severe clinical phenotypes have a poor prognosis, and diagnosis and management of these patients can be challenging...
July 2022: Annals of the Rheumatic Diseases
#28
JOURNAL ARTICLE
Micol Romano, Z Serap Arici, David Piskin, Sara Alehashemi, Daniel Aletaha, Karyl Barron, Susanne Benseler, Roberta A Berard, Lori Broderick, Fatma Dedeoglu, Michelle Diebold, Karen Durrant, Polly Ferguson, Dirk Foell, Jonathan S Hausmann, Olcay Y Jones, Daniel Kastner, Helen J Lachmann, Ronald M Laxer, Dorelia Rivera, Nicola Ruperto, Anna Simon, Marinka Twilt, Joost Frenkel, Hal M Hoffman, Adriana A de Jesus, Jasmin B Kuemmerle-Deschner, Seza Ozen, Marco Gattorno, Raphaela Goldbach-Mansky, Erkan Demirkaya
BACKGROUND: The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases, including the cryopyrin- associated periodic syndromes (CAPS), tumour necrosis factor receptor-associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD) and deficiency of the IL-1 receptor antagonist (DIRA), belong to a group of rare immunodysregulatory diseases that primarily present in early childhood with variable multiorgan involvement. When untreated, patients with severe clinical phenotypes have a poor prognosis, and diagnosis and management of these patients can be challenging...
July 2022: Arthritis & Rheumatology
#29
MULTICENTER STUDY
Emily R Backes, Natasha S Afonso, Danielle Guffey, James S Tweddell, Sarah Tabbutt, Nancy A Rudd, Ginny O'Harrow, Silvana Molossi, George M Hoffman, Garick Hill, Jeffrey S Heinle, Priya Bhat, Jeffrey B Anderson, Nancy S Ghanayem
OBJECTIVE: Prematurity, low birth weight, genetic syndromes, extracardiac conditions, and secondary cardiac lesions are considered high-risk conditions associated with mortality after stage 1 palliation. We report the impact of these conditions on outcomes from a prospective multicenter improvement collaborative. METHODS: The National Pediatric Cardiology Quality Improvement Collaborative Phase II registry was queried. Comorbid conditions were categorized and quantified to determine the cumulative burden of high-risk diagnoses on survival to the first birthday...
January 2023: Journal of Thoracic and Cardiovascular Surgery
#30
JOURNAL ARTICLE
Diego M Jofré, Dane K Hoffman, Ailen S Cervino, Gabriella M Hahn, McKenzie Grundy, Sijung Yun, Francis R G Amrit, Donna B Stolz, Luciana F Godoy, Esteban Salvatore, Fabiana A Rossi, Arjumand Ghazi, M Cecilia Cirio, Judith L Yanowitz, Daniel Hochbaum
CHARGE syndrome is a complex developmental disorder caused by mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) and characterized by retarded growth and malformations in the heart and nervous system. Despite the public health relevance of this disorder, relevant cellular pathways and targets of CHD7 that relate to disease pathology are still poorly understood. Here we report that chd-7, the nematode ortholog of Chd7, is required for dauer morphogenesis, lifespan determination, stress response, and body size determination...
April 12, 2022: Proceedings of the National Academy of Sciences of the United States of America
#31
REVIEW
Margaret C S Boguszewski, Cesar L Boguszewski, Wassim Chemaitilly, Laurie E Cohen, Judith Gebauer, Claire Higham, Andrew R Hoffman, Michel Polak, Kevin C J Yuen, Nathalie Alos, Zoltan Antal, Martin Bidlingmaier, Beverley M K Biller, George Brabant, Catherine S Y Choong, Stefano Cianfarani, Peter E Clayton, Regis Coutant, Adriane A Cardoso-Demartini, Alberto Fernandez, Adda Grimberg, Kolbeinn Guðmundsson, Jaime Guevara-Aguirre, Ken K Y Ho, Reiko Horikawa, Andrea M Isidori, Jens Otto Lunde Jørgensen, Peter Kamenicky, Niki Karavitaki, John J Kopchick, Maya Lodish, Xiaoping Luo, Ann I McCormack, Lillian Meacham, Shlomo Melmed, Sogol Mostoufi Moab, Hermann L Müller, Sebastian J C M M Neggers, Manoel H Aguiar Oliveira, Keiichi Ozono, Patricia A Pennisi, Vera Popovic, Sally Radovick, Lars Savendahl, Philippe Touraine, Hanneke M van Santen, Gudmundur Johannsson
Growth hormone (GH) has been used for over 35 years, and its safety and efficacy has been studied extensively. Experimental studies showing the permissive role of GH/insulin-like growth factor 1 (IGF-I) in carcinogenesis have raised concerns regarding the safety of GH replacement in children and adults who have received treatment for cancer and those with intracranial and pituitary tumours. A consensus statement was produced to guide decision-making on GH replacement in children and adult survivors of cancer, in those treated for intracranial and pituitary tumours and in patients with increased cancer risk...
April 21, 2022: European Journal of Endocrinology
#32
JOURNAL ARTICLE
Lori Broderick, Gwendolyn M Clay, Robert H Blum, Yang Liu, Rachael McVicar, Fabio Papes, Laela M Booshehri, Ian G Cowell, Caroline A Austin, Christopher D Putnam, Dan S Kaufman
BACKGROUND: Hoffman syndrome is a syndromic, inborn error of immunity due to autosomal dominant mutations in TOP2B, an essential gene required to alleviate topological stress during DNA replication and gene transcription. While mutations identified in patients lead to a block in B cell development and the absence of circulating B cells, an effect on natural killer (NK) cells was not previously examined. OBJECTIVE: This study sought to determine whether disease-associated mutations in TOP2B impact NK cell development and function...
January 18, 2022: Journal of Allergy and Clinical Immunology
#33
JOURNAL ARTICLE
Jane S Chen, Audrey E Pettifor, Julie Ae Nelson, Sam Phiri, Dana K Pasquale, Wiza Kumwenda, Gift Kamanga, Mackenzie L Cottrell, Craig Sykes, Angela Dm Kashuba, Gerald Tegha, Robert Krysiak, Isaac Thengolose, Myron S Cohen, Irving F Hoffman, William C Miller, Sarah E Rutstein
BACKGROUND: Persons with acute HIV infection (AHI) are highly infectious and responsible for a disproportionate share of incident infections. Immediate antiretroviral therapy (ART) rapidly reduces blood viral loads (VL), but genital VLs after ART initiation during AHI are less well described. SETTING: Lilongwe, Malawi, 2012-2014. METHODS: HIV-seronegative and -serodiscordant persons ≥18 years were screened for AHI (RNA positive), and randomized to standard care, behavioral intervention, or behavioral intervention plus short-term ART (raltegravir/emtricitabine/tenofovir) (1:2:2)...
January 17, 2022: Journal of Acquired Immune Deficiency Syndromes: JAIDS
#34
JOURNAL ARTICLE
Chang Su, Katherine L Hoffman, Zhenxing Xu, Elizabeth Sanchez, Ilias I Siempos, John S Harrington, Alexandra C Racanelli, Maria Plataki, Fei Wang, Edward J Schenck
OBJECTIVES: This report aims to characterize the kinetics of serum albumin in critically ill patients with coronavirus disease 2019 compared with critically ill patients with sepsis-induced acute respiratory distress syndrome. DESIGN: Retrospective analysis. SETTING: We analyzed two critically ill cohorts, one with coronavirus disease 2019 and another with sepsis-induced acute respiratory distress syndrome, treated in the New York Presbyterian Hospital-Weill Cornell Medical Center...
December 2021: Critical care explorations
#35
JOURNAL ARTICLE
L Bengt van Rijssen, Wynia Derks, Ruth Hoffmans, Marjolein A van Looij, J Peter van Maanen, Hester S van Monsjou, Heike J Nyst, Peter M van Rijn, Lenka Vermeeren, Nico de Vries, Madeline J Ravesloot
BACKGROUND: Various case reports have described sudden sensorineural hearing loss (SSNHL) in patients with the 2019 novel coronavirus disease (COVID-19) caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Our aim was to determine the incidence of COVID-19 in patients with SSNHL. METHODS: All consecutive patients with audiometric confirmed SSNHL between November 2020 and March 2021 in a Dutch large inner city teaching hospital were included...
December 9, 2021: Otology & Neurotology
#36
JOURNAL ARTICLE
Leah R Harris, Heather J Hoffman, Caleb J Griffith, Nara Lee, Wei Li A Koay, Natella Y Rakhmanina
Transitioning from pediatric to adult services is known to be associated with worsening of health outcomes and decreased retention in care among adolescents and youth living with HIV (AYLHIV). We aimed to identify factors associated with HIV care transition readiness among AYLHIV in care at a pediatric HIV clinic in Washington, DC. This retrospective cohort study from June 2019 through January 2021 collected demographic and clinical characteristics from the clinic database. We adapted the Transition Readiness Assessment Questionnaire (TRAQ; scored 1-4; 1 being the lowest level of preparedness) to evaluate transition readiness over time...
December 2021: AIDS Patient Care and STDs
#37
JOURNAL ARTICLE
Christina Theodore-Oklota, Deborah S Hartman, Deborah L Hoffman, Hans T Björnsson
INTRODUCTION: Kabuki syndrome is a rare congenital condition characterized clinically by unique facial features, abnormalities in the skeleton, finger pad abnormalities, and developmental delays, as well as a range of other health issues. Existing research lacks information on the daily burden of living with Kabuki syndrome. METHODS: A survey collected caregiver- and patient-reported data about the experience of living with Kabuki syndrome in order to better understand its presentation and effect on patients and their psychosocial well-being...
January 2022: Advances in Therapy
#38
MULTICENTER STUDY
Elizabeth K Bancroft, Elizabeth C Page, Mark N Brook, Sarah Thomas, Natalie Taylor, Jennifer Pope, Jana McHugh, Ann-Britt Jones, Questa Karlsson, Susan Merson, Kai Ren Ong, Jonathan Hoffman, Camilla Huber, Lovise Maehle, Eli Marie Grindedal, Astrid Stormorken, D Gareth Evans, Jeanette Rothwell, Fiona Lalloo, Angela F Brady, Marion Bartlett, Katie Snape, Helen Hanson, Paul James, Joanne McKinley, Lyon Mascarenhas, Sapna Syngal, Chinedu Ukaegbu, Lucy Side, Tessy Thomas, Julian Barwell, Manuel R Teixeira, Louise Izatt, Mohnish Suri, Finlay A Macrae, Nicola Poplawski, Rakefet Chen-Shtoyerman, Munaza Ahmed, Hannah Musgrave, Nicola Nicolai, Lynn Greenhalgh, Carole Brewer, Nicholas Pachter, Allan D Spigelman, Ashraf Azzabi, Brian T Helfand, Dorothy Halliday, Saundra Buys, Teresa Ramon Y Cajal, Alan Donaldson, Kathleen A Cooney, Marion Harris, John McGrath, Rosemarie Davidson, Amy Taylor, Peter Cooke, Kathryn Myhill, Matthew Hogben, Neil K Aaronson, Audrey Ardern-Jones, Chris H Bangma, Elena Castro, David Dearnaley, Alexander Dias, Tim Dudderidge, Diana M Eccles, Kate Green, Jorunn Eyfjord, Alison Falconer, Christopher S Foster, Henrik Gronberg, Freddie C Hamdy, Oskar Johannsson, Vincent Khoo, Hans Lilja, Geoffrey J Lindeman, Jan Lubinski, Karol Axcrona, Christos Mikropoulos, Anita V Mitra, Clare Moynihan, Holly Ni Raghallaigh, Gad Rennert, Rebecca Collier, Judith Offman, Zsofia Kote-Jarai, Rosalind A Eeles
BACKGROUND: Lynch syndrome is a rare familial cancer syndrome caused by pathogenic variants in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2, that cause predisposition to various cancers, predominantly colorectal and endometrial cancer. Data are emerging that pathogenic variants in mismatch repair genes increase the risk of early-onset aggressive prostate cancer. The IMPACT study is prospectively assessing prostate-specific antigen (PSA) screening in men with germline mismatch repair pathogenic variants...
November 2021: Lancet Oncology
#39
JOURNAL ARTICLE
Carrie K Shapiro-Mendoza, Vincent J Palusci, Benjamin Hoffman, Erich Batra, Marc Yester, Tracey S Corey, Mary Ann Sens
After a sudden infant death, parents and caregivers need accurate and open communication about why their infant died. Communicating tragic news about a child's death to families and caregivers is difficult. Shared and consistent terminology is essential for pediatricians, other physicians, and nonphysician clinicians to improve communication with families and among themselves. When families do not have complete information about why their child died, pediatricians will not be able to support them through the process and make appropriate referrals for pediatric specialty and mental health care...
October 2021: Pediatrics
#40
JOURNAL ARTICLE
Julien Stackowicz, Nicolas Gaudenzio, Nadine Serhan, Eva Conde, Ophélie Godon, Thomas Marichal, Philipp Starkl, Bianca Balbino, Axel Roers, Pierre Bruhns, Friederike Jönsson, Philippe Moguelet, Sophie Georgin-Lavialle, Lori Broderick, Hal M Hoffman, Stephen J Galli, Laurent L Reber
Gain-of-function mutations in NLRP3 are responsible for a spectrum of autoinflammatory diseases collectively referred to as "cryopyrin-associated periodic syndromes" (CAPS). Treatment of CAPS patients with IL-1-targeted therapies is effective, confirming a central pathogenic role for IL-1β. However, the specific myeloid cell population(s) exhibiting inflammasome activity and sustained IL-1β production in CAPS remains elusive. Previous reports suggested an important role for mast cells (MCs) in this process...
October 4, 2021: Journal of Experimental Medicine
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