Results 131 to 140 of about 211,361 (268)

Late Cytomegalovirus Infections After Allogeneic Hematopoietic Cell Transplant

American Journal of Hematology, EarlyView.
ABSTRACT Graft versus host disease (GVHD) prophylaxis with posttransplant cyclophosphamide (ptCY) and cytomegalovirus (CMV) prophylaxis with letermovir have changed the clinical epidemiology of CMV infection. We studied the incidence, risk factors for, and outcomes of CMV infection after Day + 90 of allogeneic hematopoietic cell transplant (alloHCT ...
George L. Chen, Roland Bassett, Rohtesh S. Mehta, Betul Oran, Fareed Khawaja, Ella J. Ariza‐Heredia, Yosra Aljawai, Amanda Olson, May Daher, Portia Smallbone, Katayoun Rezvani, Partow Kebriaei, Uday Popat, Richard Champlin, Roy F. Chemaly, Elizabeth J. Shpall   +15 more
wiley   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Effect of SARS-CoV-2 mRNA vaccination on ocular herpes simplex and varicella-zoster virus reactivation: should preventive antiviral treatment be given in known herpes patients

Journal of Ophthalmic Inflammation and Infection, 2021
Carl P. Herbort, Ioannis Papasavvas
doaj   +1 more source

Direct observation and measurement of circumlental space and its relation to anterior chamber angle characteristics in iridotomized phakic eyes with primary angle closure disease

Scientific Reports
Primary angle closure disease (PACD) is a major cause of blindness worldwide. It has a high prevalence in East Asia, especially in China, which leads to a higher incidence of blindness than open-angle glaucoma.
Zhiqiao Liang, Kangyi Yang, Kun Lv, Yao Ma, Xuanzhu Chen, Zeqin Ren, Yong Liang, Xianru Hou, Huijuan Wu   +8 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source

Evaluating neutrophil-lymphocyte ratio, systemic immune-inflammation index, and systemic inflammation response index for diagnosing and predicting progression in diabetic retinopathy: a cross-sectional and longitudinal study

BMC Ophthalmology
Purpose To investigate the significance of neutrophil-to-lymphocyte ratio (NLR), systemic immune-inflammation index (SII), and systemic inflammation response index (SIRI), as diagnostic and prognostic factors in patients with diabetic retinopathy (DR) in
Yi Gong, Linni Wang, Qingbo Li, Manqiao Wang, Rong Luan, Fei Gao, Liying Hu, Chen Chen, Juping Liu, Yan Shao, Xiaorong Li   +10 more
doaj   +1 more source