Results 61 to 70 of about 118,831 (311)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

A transformer-based deep learning model for identifying the occurrence of acute hematogenous osteomyelitis and predicting blood culture results

Frontiers in Microbiology
BackgroundAcute hematogenous osteomyelitis is the most common form of osteomyelitis in children. In recent years, the incidence of osteomyelitis has been steadily increasing.
Yingtu Xia, Qiang Kang, Yi Gao, Jiuhui Su   +3 more
doaj   +1 more source

Interspecies Biofilm Dynamics Among Staphylococci: Inflammatory Contributions to Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Staphylococcus species are frequently isolated from the sinonasal niche of chronic rhinosinusitis (CRS) patients. While Staphylococcus aureus is often associated with recalcitrant CRS, Staphylococcus epidermidis and Staphylococcus lugdunensis are largely deemed commensal.
Sintayehu Ambachew, Mahnaz Ramezanpour, Clare M. Cooksley, Sholeh Feizi, Muhammed Awad, Kevin Aaron Fenix, Peter‐John Wormald, Alkis J. Psaltis, Sarah Vreugde   +8 more
wiley   +1 more source

Subacute Presentation of Central Cord Syndrome Resulting from Vertebral Osteomyelitis and Discitis: A Case Report [PDF]

, 2020
Introduction: Central cord syndrome (CCS) is a clinical syndrome of motor weakness and sensory changes. While CCS is most often associated with traumatic events.
Cerda, Melinda, Dang, Thomas, Dong, Fanglong, Fenati, Greg, Neeki, Michael M., Rabiei, Massoud   +5 more
core  

Predictors of outcomes in diabetic foot osteomyelitis treated initially with conservative (nonsurgical) medical management: A retrospective study [PDF]

, 2016
The optimal way to manage diabetic foot osteomyelitis remains uncertain, with debate in the literature as to whether it should be managed conservatively (ie, nonsurgically) or surgically. We aimed to identify clinical variables that influence outcomes of
Catherine Gooday, Heiba S, Ian Nunney, Ketan Dhatariya, Paul Zeun, van der Meer JW   +5 more
core   +1 more source

Injectable Bone Cements: A Generational Framework for Bioactivity, Porosity, and Mechanobiological Design at the Nanoscale

Advanced NanoBiomed Research, EarlyView.
Key demographic, biological, and material considerations that drive the need for advanced injectable bone cement technologies. Injectable bone cements (IBCs) are widely used in orthopaedic and craniofacial applications due to their minimally invasive delivery and ability to provide early mechanical stabilisation.
Frank Fei, Yogambha Ramaswamy, Young Jung No   +2 more
wiley   +1 more source

PECULIAR IMMUNOLOGICAL PROPERTIES OF CHRONIC POSTTRAUMATIC OSTEOMYELITIS

Travmatologiâ i Ortopediâ Rossii, 2012
A comparative study of cellular immunity parameters was performed in patients with long bone chronic posttraumatic osteomyelitis in regard to osteomyelitis stages.
M. V. Chepeleva, N. M. Klyushin
doaj   +1 more source

Bacillus Calmette-Guérin (BCG) osteomyelitis among children: Experience in a single tertiary center in central Taiwan

Journal of Microbiology, Immunology and Infection, 2022
Background: The insidious nature of BCG-osteomyelitis makes it challenging for clinicians to detect it early on. Methods: This 12-year retrospective analysis was conducted at a single tertiary hospital in central Taiwan.
Yan Yi Low, Yu-Lung Hsu, Jiun-An Chen, Hsiu-Mei Wei, Huan-Cheng Lai, Yu-Ting Chiu, Chien-Chung Kuo, Hsiao-Chuan Lin, Kao-Pin Hwang   +8 more
doaj   +1 more source

A case of chronic recurrent multifocal osteomyelitis associated with Crohn's disease [PDF]

, 2015
Chronic recurrent multifocal osteomyelitis (CRMO) is an auto-inflammatory bone disease of unknown etiology, most commonly affecting the metaphysis of long bones, especially the tibia, femur and clavicle. The clinical spectrum varies from self-limited uni-
De Baets, Frans, Dehoorne, Jo, Van Biervliet, Stephanie, van Ommen, Christi, Van Winckel, Myriam, Vande Velde, Saskia   +5 more
core  

Chitosan/Gelatin Hydrogels With Hydroxyapatite/Silver Nanoparticles: A Dual Antimicrobial and Biocompatible Platform for Bone Regeneration

Journal of Applied Polymer Science, EarlyView.
Chitosan/gelatin hydrogels containing hydroxyapatite or hydroxyapatite/silver nanoparticles were developed and evaluated for bone tissue engineering applications, demonstrating biocompatibility and antimicrobial activity. ABSTRACT Bone tissue engineering demands multifunctional biomaterials capable of promoting regeneration while preventing local ...
Elisabeth Assis Martins Machado, Anne Caroline da Silva Rocha, Lívia Rodrigues de Menezes   +2 more
wiley   +1 more source