Results 191 to 200 of about 25,515 (262)

Recurrent Chondromyxoid Fibroma of the Second Toe Distal Phalanx Treated with Distal Phalangectomy: A Case Report. [PDF]

Children (Basel)
Park JY, Kim WJ, Lee DW, Kim B, Cho HD, Jung KJ.   +5 more
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Cerebrospinal fluid leak following traumatic skull base fractures: Predictors and outcomes. [PDF]

Surg Neurol Int
Alhathlol H, Alsharef FK, Almedemgh KI, Binmushayt TH, Alkhreigi S, Alharbi M, Almutairi MF, Alkhaibary A, Aloraidi A.   +8 more
europepmc   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Determining optimal clinical target volume margins based on microscopic tumor extension in patients with non-small-cell lung cancer undergoing chemotherapy or chemotherapy combined with immunotherapy. [PDF]

Front Oncol
Zhang Y, Song X, Li J, Zhao F, Li L, Liu N, Zhao M, Yuan S.   +7 more
europepmc   +1 more source

Assessing Progression Independent of Relapse Activity in Multiple Sclerosis Using a Patient‐Reported Disability Measure and Self‐Administered Neuroperformance Outcomes

Annals of Neurology, EarlyView.
Objective The objective of this study was to investigate the ability of patient‐reported/administered outcomes to capture disability worsening and progression independent of relapse activity (PIRA) in multiple sclerosis (MS). Methods We included patients from the longitudinal multicenter MS PATHS cohort with ≥3 assessments and >6 months follow‐up. PIRA
Evy M. Reinders, Ariadna Masot‐Llima, Susana Otero‐Romero, René Carvajal, Álvaro Cobo‐Calvo, Pere Carbonell‐Mirabent, Jordina Beltran, Maria Jesús Arévalo, Helena Ariño, Georgina Arrambide, Cristina Auger, Luca Bollo, Joaquín Castilló, Manuel Comabella, Ingrid Galán, Alexis García‐Sarreón, Andrew Goodman, Carrie M. Hersh, Delon La Puma, Le H. Hua, Luciana Midaglia, Neus Mongay‐Ochoa, Ellen M. Mowry, Agustín Pappolla, Breogán Rodríguez‐Acevedo, Jordi Río, Paula Tagliani, Ángela Vidal‐Jordana, Andreu Vilaseca, Ana Zabalza, Deborah Pareto, Carlos Nos, Menno Schoonheim, Eva Strijbis, Jaume Sastre‐Garriga, Madalina Tivarus, Tjalf Ziemssen, Àlex Rovira, Xavier Montalban, Mar Tintoré, Carmen Tur   +40 more
wiley   +1 more source

CT-based Extranodal Extension for Nodal Staging and Prognostic Stratification in Surgically Resectable Esophageal Squamous Cell Carcinoma. [PDF]

Radiol Imaging Cancer
Xie X, Ning Z, Hu H, Chen J, Hu Y, Han L, Lin T, Liang Y, Wang K, Guo Y, Liu Y, Zhan J, Hou Y, Chen X, Xie C, Lai L.   +15 more
europepmc   +1 more source

Hyperacute Interleukin‐1β Production and Neutrophil Extracellular Trap Formation in the Cerebral Circulation of Stroke Patients with Large Vessel Occlusion

Annals of Neurology, EarlyView.
Acute ischemic stroke due to large vessel occlusion is associated with rapid intravascular immune activation. Analysis of arterial blood sampled distal to the thrombus during mechanical thrombectomy revealed increased extracellular adenosine triphosphate (ATP) and interleukin‐1β (IL‐1β) levels, evidence of inflammasome priming in monocytes, and ...
Justine Münsterberg, Caspar Brekenfeld, Hanna Englert, Marius Piepke, Regine J. Dress, Martin Oertel, Tina Fischer, Romy Hackbusch, Mingming Zha, Haodi Cai, Christian Casar, Ines S. Schädlich, Leo Winter, Alina Jander, Karoline Degenhardt, Maxim Bester, Fabian Flottmann, Uta Hanning, Brigitte Holst, Anna Worthman, Johanna Hiefner, Berenike Rutz, Eckhard Schlemm, Götz Thomalla, Bettina H. Clausen, Ann M. Stowe, Immo Prinz, Thiruma V. Arumugam, Markus Glatzel, Thomas Renné, Jens Fiehler, Eva Tolosa, Tim Magnus, Mathias Gelderblom   +33 more
wiley   +1 more source

Multimodal Imaging of Oncocytic Lipoadenoma Arising from the Parotid Deep Lobe with Medial Extension into the Parapharyngeal Space: A Case Report with Histopathologic Findings and Literature Review. [PDF]

Diagnostics (Basel)
Lee JU, Baek HJ, Choi KH, Cho E, An HJ.
europepmc   +1 more source

Plant Virus Immunotherapy for HPV‐Associated Oropharyngeal Squamous Cell Carcinoma

Advanced NanoBiomed Research, EarlyView.
Cowpea mosaic virus (CPMV) nanoparticles are safe and potent cancer immunotherapy candidates with strong immunomodulatory activity. CPMV activates innate immunity, which in turn drives adaptive immune responses and promotes durable, systemic antitumor effects.
Jessica Fernanda Affonso de Oliveira, Patrick Opdensteinen, Andrea Simms, Seongwon Jung, Giuliana P. Mognol, Hui Chen, Judith A. Varner, Nicole F. Steinmetz   +7 more
wiley   +1 more source