Results 141 to 150 of about 996,187 (255)

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen, Ulrik Kristoffer Stoltze, Pernille Axél Gregersen, Marianne Hoffmann, Morten Lyng Høgild, Mette Klarskov Andersen, Lise Barlebo Ahlborn, Lisa Lyngsie Hjalgrim, Karin A. W. Wadt   +8 more
wiley   +1 more source

Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Dengue virus (DENV) poses a serious global health challenge, particularly in cases of dengue hemorrhagic fever (DHF). Patients with preexisting mitochondrial disorders may be at increased risk for complications due to the specific impact of DENV on mitochondrial‐dependent cellular processes and immune function.
Audra N. Iness, Ameya S. Walimbe, Emily R. Strouphauer, Michio Hirano, Alejandro D. Iglesias, Valentina Emmanuele, Caitlin C. Griffin, Sheldon L. Kaplan, William A. Gomes, Karen K. Moeller, Stephen F. Kralik, Fernando Scaglia   +11 more
wiley   +1 more source

Gastrointestinal Stromal Tumors (GISTs) in Pediatric Patients: A Case Report and Literature Review

Gastrointestinal stromal tumors (GISTs) are rare mesenchymal neoplasms that primarily affect adults, with pediatric cases constituting only 0.5–2.7% of the total.
Larisa-Mihaela Bãlãnoiu, Cãtãlin-Alexandru Pîrvu, Tamas Talpai, Rãzvan-Sorin Albu, Tudor-Alexandru Popoiu, Stelian Pantea, Cãlin-Marius Popoiu, Emil Radu Iacob, Amalia Voinea, Sorina Tãban   +9 more
core   +1 more source

Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila, Sara Fernández, Maximiliano Zeballos, María Georgina Poggio   +3 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Prescription of Panoramic Radiographs in Children: A Health Services Assessment of Current Guidelines

, 2017
Purpose: To (1) determine adherence to guidelines when prescribing panoramic radiographs (PR) for patients 18 y.o. and younger; and 2) compare PR prescriptions between general dentists (GPs) and pediatric dentists (PDs). Methods: A retrospective analysis
Maupomé, Gerardo, Tang, Qing, Eckert, George J., Vinson, LaQuia, Powers, Elizabeth, Yepes, Juan F., Downey, Tim   +6 more
core  

The Molecular Basis of Pediatric Brain Tumors: A Review with Clinical Implications

Central nervous system (CNS) tumors are the most common solid malignancy in the pediatric population. These lesions are the result of the aberrant cell signaling step proteins, which normally regulate cell proliferation. Mitogen-activated protein kinase (
Magras, John, Tsitsopoulos, Parmenion, Vorri, Stamatia, Parmenion Tsitsopoulos, John Magras, Nikolaos Keffes, Nikolaos Gkantsinikoudis, Gkantsinikoudis, Nikolaos, Vassilios Tsitouras, Antoniades, Elias, Elias Antoniades, Tsitouras, Vassilios, Stamatia Vorri, Keffes, Nikolaos   +13 more
core   +1 more source

A Comparison of Frailty Indices in Predicting Postoperative Outcomes After Endoscopic Sinus Surgery

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective To compare the discriminatory performance of the Risk Analysis Index (RAI) and modified Frailty Index‐5 (mFI‐5) in predicting postoperative outcomes following endoscopic sinus surgery (ESS). Study Design Retrospective cohort study. Methods Adult ESS patients were identified from the ACS‐NSQIP database (2005–2020).
Akshay Warrier, David Remyes, Tenesha Boyd, Ailish Nagpal, Aman M Patel, David W. Wassef, Jean Anderson Eloy   +6 more
wiley   +1 more source

Single-Cell Transcriptomics Reveals Biomarkers for NK Cell Dysfunction in Endometriosis-Associated Immune Dysregulation

Mediators of Inflammation
Wangshu Li, Kexin Zhu, Bowen Xu, Juan Nie, Fang Wang, Aziz ur Rehman Aziz, Xiaohui Yu, Daqing Wang, Chunfang Ha   +8 more
doaj   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source