Results 191 to 200 of about 12,829 (257)

Transorbital Penetrating Intracranial Injury by Wooden Foreign Body: A Rare Case Report. [PDF]

Clin Case Rep
Chaulagain U, Khanal K, Pokhrel KM, Soti N, Naaz U, Jha P, Shrestha DK, Shilpakar SK.   +7 more
europepmc   +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

Re-examining the Diagnostic Criteria for Wilson's Disease: A Case Report and Literature Review. [PDF]

Cureus
Hummel L, Carr C, Biow S, Asher K, Sauer T, Maylin M.   +5 more
europepmc   +1 more source

Non‐physician delivered intravitreal injection service: A systematic review of safety, implementation, training and patient experience

Acta Ophthalmologica, EarlyView.
Abstract The global demand for intravitreal anti‐vascular endothelial growth factor (anti‐VEGF) therapy continues to rise, straining ophthalmic capacity worldwide. Task shifting from physicians to trained non‐physician healthcare professionals has emerged as a potential strategy to expand service delivery.
Trang Truong Laursen, Haris Bralic, Jakob Grauslund, Yousif Subhi, Lonny Stokholm   +4 more
wiley   +1 more source

Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1. [PDF]

J Clin Med
Kerekes K, Boostani M, Metyovinyi Z, Kiss N, Medvecz M.   +4 more
europepmc   +1 more source

Mapping Dental Care for Children and Adolescents With Rare Diseases: A Brazilian Multicentre Study

Community Dentistry and Oral Epidemiology, EarlyView.
ABSTRACT Objectives To describe the landscape of dental care provided by specialised centres for children and adolescents with rare diseases (RDs) in the state of Minas Gerais, southeastern Brazil. Methods A retrospective cross‐sectional study was conducted involving individuals aged 0–18 years with a confirmed diagnosis of a RD who received care at ...
Heloisa Vieira Prado, Rayssa Maria Soalheiro de Souza, Gabriella Guerra Freire Gabrich Fonseca, Kamila Rodrigues Junqueira Carvalho, Anna Vitória Mendes Viana Silva, Iasmin Fonseca Tolentino Mascarenhas, Beatriz Rezende Bergo, Hanna Larissa Barbosa Soares, Bárbara Mendes de Jesus, Layanne Ribeiro Ferreira e Sobral, Kélisson Duarte Reis, Késia Lara dos Santos Marques, Fabiana Sodré de Oliveira, Daniella Reis Barbosa Martelli, José Alcides Almeida de Arruda, Benjamin P. J. Fournier, Denise Vieira Travassos, Soraia Macari, Célia Regina Moreira Lanza, Ana Cristina Borges‐Oliveira, Hercílio Martelli‐Júnior, Tarcília Aparecida Silva   +21 more
wiley   +1 more source

Transnasal endoscopic removal of a pituicytoma: a case report. [PDF]

Front Oncol
Teltayev D, Tursynbekov T, Mustafin K, Kydyrov A, Litvinova T, Ashirov N, Turzhanova A, Solodovnikov M, Akshulakov S.   +8 more
europepmc   +1 more source

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B‐Related Marbach–Schaaf Neurodevelopmental Syndrome: A Case Series

Clinical Genetics, EarlyView.
Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart, Tarik Guzeloglu, Ana R. Soares, Irene Valenzuela, Eduardo F. Tizzano, David Gómez‐Andres, Laurent Pasquier, Marine Legendre, Camille Berges, Julien Thevenon, Marjolaine Gauthier, Caleb Heid, Elly Ranum, Joseph Shen, Michelle Frees, Michael W. Schmidtke, Caro Pilar, Christian P. Schaaf   +17 more
wiley   +1 more source

Comparison of endoscopic and endoscope-assisted microscopic transsphenoidal surgery for pituitary adenoma resection: a prospective randomized study. [PDF]

Front Endocrinol (Lausanne)
Eördögh M, Bárány L, Rosenstengel C, Bogaczyk V, Baldauf J, Vogelgesang S, Stahl A, Kirsch M, Hosemann W, Steveling A, Al Menabbawy A, Schroeder HWS.   +11 more
europepmc   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, EarlyView.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source