Results 61 to 70 of about 9,898 (185)

Biallelic Inactivation of NSD1 Associated With Carcinogenesis in Sotos Syndrome

Pediatric Blood &Cancer, EarlyView.
Nicholas A. Borja, Anuja Sule, Katie Ann McMullen, Aditi Dhir, Matthew D. Hall, Heather J. McCrea, Sakir Humayun Gultekin, Mustafa Tekin, Bradley Gampel   +8 more
wiley   +1 more source

Epigenetic Regulation in the Pathogenesis of Renal Inflammation: Insights and Therapeutic Potentials

iNew Medicine, EarlyView.
ABSTRACT Renal inflammation is a common pathological process in various kidney diseases, often initiated by factors such as toxins, ischemia, or autoimmune reactions. This inflammatory response can result in structural damage and a rapid decline in renal function.
Yu‐Hang Dong, Xiao‐Yu Shen, Han‐Cheng Jin, Xiang‐Yu Li, Hao He, Xiao‐Ming Meng   +5 more
wiley   +1 more source

N6‐Methyladenosine (m6A) in Liver Disease: Pathogenic Mechanisms and Therapeutic Potential

iNew Medicine, EarlyView.
ABSTRACT Accumulating evidence highlights the critical role of epigenetic modifications, particularly N6‐methyladenosine (m6A), in liver disease. As the most abundant RNA modification in eukaryotic cells, m6A is dynamically regulated by multicomponent m6A methyltransferases (e.g., METTL3 and METTL14), demethylases (FTO and ALKBH5), and m6A‐binding ...
Yingfen Chen, Ru Ya, Ziling Zhang, Siyue Dong, Seol Hee Park, Wonhyo Seo, Yong He   +6 more
wiley   +1 more source

Tumor primitivo neuroectodérmico de rim em criança

Jornal de Pediatria, 2001
Objetivos: Caracterizar o tumor primitivo neuroectodérmico de rim como diagnóstico diferencial de tumor de Wilms e enfatizar a gravidade da doença. Métodos: Apresentamos um paciente com diagnóstico de tumor primitivo neuroectodérmico de rim, submetido a ...
Ana P. Kuczynski, Elizabeth S. Gugelmin, Rodrigo A.S. Netto   +2 more
doaj   +1 more source

Development and validation of a nutrition risk screening for patients with childhood cancer in Brazil (NUTRICCAN)

Nutrition in Clinical Practice, EarlyView.
Abstract Background Diagnosing malnutrition in patients with pediatric cancer is challenging because tumor masses can interfere with anthropometric measurements. STRONGkids considers cancer a general risk factor, whereas Screening Tool for Childhood Cancer (SCAN) classifies patients as at risk or not, potentially missing those who need nutrition ...
Cristiane Ferreira Marçon, Carolina Araújo dos Santos, Fernanda Luisa Ceragioli Oliveira   +2 more
wiley   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

Pediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil, Eugene Feigin, Hussein Zaitoon   +2 more
wiley   +1 more source

Interventional oncology in children: Where are we now?

Journal of Medical Imaging and Radiation Oncology, EarlyView.
Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel, Fernando Gómez Muñoz   +1 more
wiley   +1 more source

Congenital aniridia: European COST action ANIRIDIA‐NET guidelines for diagnosis, management and care

Acta Ophthalmologica, EarlyView.
Abstract Congenital aniridia is a rare ocular disorder affecting the majority of eye structures and can be associated with systemic manifestations. The main visible phenotypic characteristic is the partial or complete absence of the iris; however, foveal hypoplasia is a more frequent and reliable clinical sign. Other ocular comorbidities are associated
Davide Romano, Vito Romano, Alejandra Daruich, Giulio Ferrari, Matthieu Robert, Francesco Semeraro, Neil Lagali, Dominique Bremond‐Gignac, the ANIRIDIA‐NET Clinical Guidelines Working Group, Miriam Barbany, Claus Cursiefen, Stefano Ferrari, Francisco Figueiredo, Christina Grupcheva, Jesper Hjortdal, Elke Kreps, Erlend Landsend, Laura Mauring, Hilde Pedersen, Nora Szentmáry, Bogumil Wowra, the Aniridia‐Europa and Geniris Working Group, Sophie Valleix, Juan Álvarez de Toledo, James Lauderdale, Tor Paaske Utheim, Paolo Rama   +26 more
wiley   +1 more source

Tumor de Wilms' na criança: revisão de 38 casos.

Acta Médica Portuguesa, 1991
Analysis of the incidence of the Nephroblastoma and of its clinic, echographic and radiologic aspects. Review of 38 cases handled in the Pediatric Surgery Service of Santa Maria Hospital between January 1960 and January 1987.
M J Leal, M Gonçalves, J M da Silva, J R de Oliveira   +3 more
doaj   +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