Results 71 to 80 of about 19,638 (210)

Mortality among World Trade Center rescue and recovery workers, 2002-2011 [PDF]

, 2016
BACKGROUND: Rescue and recovery workers responding to the 2001 collapse of the World Trade Center (WTC) sustained exposures to toxic chemicals and have elevated rates of multiple morbidities.
Crane, Michael A, Hashim, Dana, Holden, William L, Lucchini, Roberto, Luft, Benjamin J, Moline, Jacqueline M, Shapiro, Moshe, Stein, Cheryl R, Udasin, Iris, Wallenstein, Sylvan   +9 more
core   +1 more source

Aniridia‐associated keratopathy: Clinical and molecular mechanisms of disease progression and emerging therapeutic targets

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare genetic disorder primarily caused by pathogenic variants of the PAX6 gene. It leads to various panocular anomalies, including aniridia‐associated keratopathy (AAK). This review highlights recent insights into its pathogenesis, focusing on clinical staging, microstructural changes in the cornea and molecular ...
N. Szentmáry, S. Suiwal, M. Amini, F. N. Fries, A. Náray, L. Latta, Z. Li, S. Li, S. Liu, S. L. Hsu, S. Kundu, G. Tóth, S. Trusen, J. Zimmermann, B. Seitz, B. Käsmann‐Kellner, Z. Hoxha, A. Langenbucher, O. Stachs, M. Cortón‐Perez, K. Tory, A. Csorba, Z. Z. Nagy, M. C. Acosta, J. Gallar, M. Csidey, E. Maka, T. Stachon   +27 more
wiley   +1 more source

Intraocular Metastasis: Differential Diagnosis and Management

Clinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Intraocular metastases represent the most common type of malignant intraocular tumour in adults. These commonly affect the choroid but can also involve the iris, ciliary body, retina, vitreous, optic disc or lens. Breast and lung cancer are the most common origins of intraocular metastases.
Genovefa Μachairoudia, Dimitrios Kazantzis, Guy S. Negretti, Mandeep S. Sagoo   +3 more
wiley   +1 more source

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848 [PDF]

, 2018
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000–3,000, is characterized by a highly variable clinical presentation.
Balasubramanian, M. (Meena), Barnett, C.P. (Christopher P.), Becker, T.A. (Troy A.), Ben-Shachar, S. (Shay), Bertola, D.R. (Débora Romeo), Blakeley, J.O. (Jaishri O.), Burkitt-Wright, E.M.M. (Emma M.M.), Callaway, A. (Alison), Callens, T. (Tom), Chen, Y. (Yunjia), Chen, Z. (Zhenbin), Claes, K. (Kathleen), Crenshaw, M. (Melissa), Cunha, K.S. (Karin S.), Cunningham, M. (Mitch), D'Agostino, M.D. (Maria Daniela), Dahan, K. (Karin), De Luca, A. (Alessandro), Destrée, A. (Anne), Dhamija, R. (Radhika), Eoli, M. (Marica), Evans, D.G.R. (D. Gareth R.), Galvin-Parton, P. (Patricia), George-Abraham, J.K. (Jaya K.), Gomes, A. (Alicia), Gripp, K.W. (Karen), Guevara-Campos, J. (Jose), Hanchard, N.A. (Neil A.), Hernández-Chico, C. (Concepcion), Hsiao, M.-C. (Meng-Chang), Immken, L. (LaDonna), Janssens, S. (Sandra), Johnson, S. (Sherrell), Jones, K.J. (Kristi), Keena, B.A. (Beth A.), Kochhar, A. (Aaina), Koczkowska, M. (Magdalena), Korf, B. (Bruce), Legius, E. (Eric), Liebelt, J. (Jan), Mahoney, M.J. (Maurice J.), Martin, Y. (Yolanda), Martir-Negron, A. (Arelis), Maystadt, I. (Isabelle), McDougall, C. (Carey), McEntagart, M. (Meriel), Mendelsohn, N.J., Messiaen, L.M. (Ludwine), Miller, D.T. (David T.), Mortier, G. (Geert), Morton, J. (Jenny), Pappas, J. (John), Plotkin, S.R. (Scott R.), Pond, D. (Dinel), Rosenbaum, K. (Kenneth), Rubin, K. (Karol), Russell, L. (Laura), Rutledge, L.S. (Lane S.), Saletti, V. (Veronica), Schonberg, R. (Rhonda), Schreiber, A. (Allison), Seidel, M. (Meredith), Sharp, A. (Angela), Siqveland, E. (Elizabeth), Stockton, D.W. (David), Thornton, A.S. (Andrew), Trevisson, E. (Eva), Ullrich, N.J. (Nicole J.), Upadhyaya, M. (Meena), Verhelst, H. (H.), Wallace, M.R. (Margaret), Yap, Y.-S. (Yoon-Sim), Zackai, E. (Elaine), Zonana, J. (Jonathan), Zurcher, V. (Vickie)   +74 more
core   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Origins of Congenital Defects: Epidemiologic Approach [PDF]

, 1967
This presentation consists of several short stories from personal experience to illustrate the complementary nature of epidemiologic and laboratory research in the study of congenital ...
Miller, Robert W.
core   +1 more source

Stage‐Associated Microglial Subpopulations and Dynamics in Vascular Pathogenesis of Oxygen‐Induced Retinopathy

Cell Proliferation, EarlyView.
In the oxygen‐induced retinopathy (OIR) mouse model, two distinct microglial subpopulations play opposing roles: highly glycolytic microglia (HGM) promote neovascular formation via Pkm2, while Mrc1/CD206‐positive phagocytosis‐associated microglia (PAM) facilitate its regression.
Yuan Ma, Ziye Chen, Baoyi Liu, Wen Ding, Runping Duan, Kangjie Kong, Zhuojun Xu, Jizhu Li, Jiali Ru, Dianlei Guo, Xiaoyue Wei, Yaping Liu, Zhuangling Lin, Yang Meng, Yuan Liu, Lan Jiang, Zitong Chen, Rebiya Tuxun, Chinling Tsai, Chunqiao Liu, Tao Li   +20 more
wiley   +1 more source

Malignancies in Chinese patients with neurofibromatosis type 1 [PDF]

, 2013
published_or_final_versio
Chan, GCF, Cheuk, KLD, Chiang, AKS, Ha, SY   +3 more
core  

Cellularity of Routinely Prepared Cell Blocks: Insights From an International Study

Cytopathology, EarlyView.
This study revealed marked variability in the proportion of poorly cellular cell blocks among preparation methods and laboratories, highlighting the need for improved processing and regular monitoring of cell block adequacy. ABSTRACT Objective Formalin‐fixed, paraffin‐embedded (FFPE) cell blocks (CBs) are widely used for processing cytology specimens ...
Irena Srebotnik Kirbis, Ivana Kholova, Heini Huhtala, Margareta Strojan Flezar, Ruben Rodrigues Roque, Heli‐Hakso Mäkinen, Miisa Litmanen, Danijela Vrdoljak‐Mozetič, Suzana Harabajsa, Ekkehard Hewer, Enrica Bresaola, Lia Van Zuylen‐Manders, Pawel Schubert, Maria Praça, Esther Diana Rossi, Peter Karl Bode, Laetitia Lacoste‐Collin, Jessica Barizzi, Vincenzo Fiorentino, Tobias Hedegaard, Sietske van der Meulen, Ute Engel, Iris Timmer, Tugba Taskin Turkmenoglu, Jadranka Vidak, Elena Vigliar, Sonsoles Aso Manso, Jamal Musayev, Güliz A. Barkan, María D. Lozano, Ljube Ivkovski, Bettien van Hemel, Luca Carsana, Clementina Di Tonno, Birgit Weynand, Tania Labiano, Beatrix Cochand‐Priollet   +36 more
wiley   +1 more source

Limbal cystotomy by fine needle aspiration of a translucent iris cyst in a horse

Equine Veterinary Education, EarlyView.
Summary A 4‐year‐old Cremello crossbred mare was referred to the Equine Veterinary Teaching Hospital of Utrecht University for a translucent iris cyst from the dorsal pupillary margin corpora nigra in the right eye. Although noninvasive diode laser treatment is the preferred method of pigmented cyst ablation, two attempts did not result in disruption ...
A. L. Hendrikx, S. Veraa, J. P. A. M. van Loon, H. Hermans, I. J. M. Slenter, E. M. S. Visser   +5 more
wiley   +1 more source