Results 101 to 110 of about 385,840 (284)

Bresek Syndrome

Pediatric Neurology Briefs, 1997
Two half brothers with a new syndrome of brain anomalies, retardation, ectodermal dysplasia with alopecia, skeletal malformations, ear abnormalities, and kidney dysplasia (BRESEK) are reported from the University of Minnesota, Minneapolis.
J Gordon Millichap
doaj   +1 more source

Magnetic resonance imaging‐based axial‐plane analysis of lower extremity torsion with dedicated 3D planning software is reliable and efficient

Knee Surgery, Sports Traumatology, Arthroscopy, EarlyView.
Abstract Purpose The reliability and efficiency of a dedicated 3D planning software were evaluated for magnetic resonance imaging (MRI)‐based measurement of femoral torsion, tibial torsion, knee version and whole‐lower extremity torsion compared with manual assessment.
Johanna Lippuner, Felix Hüttner, Felix Ferner, Dorothée Sinha, Veronika Weyer‐Elberich, Björn Vogt, Mauricio Kfuri, Mirco Herbort, Jörg Harrer   +8 more
wiley   +1 more source

Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.

, 2017
PURPOSE: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia.
김현우
core   +2 more sources

The Burden of Airway Disease in Mucopolysaccharidoses: Evidence Across Subtypes

The Laryngoscope, EarlyView.
ABSTRACT Objective To synthesize the prevalence and subtype‐specific patterns of airway manifestations in mucopolysaccharidoses (MPS) and summarize related morbidity and mortality. Data Sources PubMed, CINAHL, Ovid Embase, Ovid MEDLINE, and Ovid All EBM Reviews.
Julia Edward, Alix Pincivy, Mathieu Bergeron   +2 more
wiley   +1 more source

Analysis of Carbohydrates and Glycoconjugates by Matrix‐Assisted Laser Desorption/Ionization Mass Spectrometry: An Update for 2023–2024

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley   +1 more source

CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron, Massil Badji, Camille Prigent, Alix Pincivy, Erika Mercier, Mathieu Bergeron   +5 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Abdominal and Pelvic Anomalies

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective(s) This study aims to document the abdominal and pelvic anomalies that can be demonstrated using post mortem Micro‐CT, independent of whether the anomaly contributed to the main diagnosis or cause of death. Methods We retrospectively analyzed 1200 whole body post‐mortem fetal Micro‐CT scans in an unselected, consecutive cohort ...
Ian C. Simcock, Audrey Lamouroux, Susan C. Shelmerdine, J. Ciaran Hutchinson, Neil J. Sebire, Owen J. Arthurs   +5 more
wiley   +1 more source

Applications and prospects of artificial intelligence and digital medicine in pediatric nasal skull base tumors

Pediatric Investigation, EarlyView.
Pediatric nasal skull base tumors present diagnostic and therapeutic challenges due to their deep location, nonspecific symptoms, and the narrow nasal cavity in children. Although artificial intelligence (AI) and digital medicine have advanced early diagnosis, multidisciplinary treatment, and prognosis, their application in these rare tumors remains ...
Xiuping Wu, Jing Wei, Chen Liu, Pengpeng Wang, Wentong Ge, Yang Han   +5 more
wiley   +1 more source

Natural Polysaccharides for Rheumatoid Arthritis Therapy: Mechanism, Drug Delivery and Clinical Application

Phytotherapy Research, EarlyView.
Schematic overview of the experimental models, therapeutic mechanisms, drug delivery systems, and clinical potential of natural polysaccharides in rheumatoid arthritis. ABSTRACT Rheumatoid arthritis (RA) is a systemic autoimmune disease characterized primarily by chronic synovitis.
Luxin Li, Junnan Li, Guangzhi Li, Lili Huang, Tiantian Wen, Yanying Li, Yan Sun, Zhenqiang Liu, Qingshan Chen, Lili Zhang, Tiangang Lu, Ruiyan Wu, Haixue Kuang, Xiaochi Ma, Yan Liu   +14 more
wiley   +1 more source

Embryotoxic Effects of Monosodium Methyl Arsenate (MSMA) on Gallus gallus: Morphological and Morphometric Evidence of Developmental Disruptions

Environmental Toxicology, EarlyView.
ABSTRACT Anthropogenic activities and the large volume of compounds released into the environment are sources of contamination for plants, animals, and humans. The herbicide monosodium methyl arsenate (MSMA) ranks among the best‐selling agricultural pesticides in Brazil.
Daniel Moreira Melo, Eduarda Scalfoni Tavares, Melyssa Kmecick, Juliana Castro Monteiro Pirovani   +3 more
wiley   +1 more source