Results 41 to 50 of about 39,121 (223)

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

Atypical Bilateral Cystic Foot Swellings with Osteomyelitis-Like Features: A Diagnostic Dilemma

Journal of Orthopaedic Case Reports
Introduction: We report an unusual case of bilateral multiloculated cystic foot swellings in which extensive investigations failed to establish a definitive diagnosis, highlighting the challenges in distinguishing culture-negative infectious ...
S Nirmal, Harish Kiran, R V Raghav, B Aditya, M Mohan Kumar   +4 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

Postoperative Chronic Osteomyelitis in the Long Bones - Current Knowledge and Management of the Problem [PDF]

Revista Brasileira de Ortopedia
Chronic postoperative osteomyelitis represents an important health problem due to its significant morbidity and low mortality rate. This pathology is challenging because of difficulties in understanding the pathogenesis and the decision-making involving ...
Lourenço Galizia Heitzmann, Raphael Battisti, Ayres Fernando Rodrigues, Juliano Valente Lestingi, Cinthya Cavazzana, Roberto Dantas Queiroz   +5 more
doaj   +3 more sources

MSCT-semiotics of muscles in chronic osteomyelitis of the femur and lower leg

Гений oртопедии, 2022
Introduction It is known that the function and structure of the muscles of the thigh and lower leg are closely related to the function of the lower limb, which is impaired to one degree or another in all patients with chronic osteomyelitis. However, the
Galina V. Diachkova, Alexander L. Shastov, Konstantin A. Diachkov, Nikolai M. Kliushin, Vyacheslav D. Gayuk, Ilya V. Sutyagin, Tat'iana A. Larionova   +6 more
doaj   +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

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

Chronic Osteomyelitis of Clavicle in a Neonate: Report of Morbid Complication of Adjoining MRSA Abscess

Case Reports in Pediatrics, 2016
Osteomyelitis of clavicle is rare in neonates. Acute osteomyelitis of clavicle accounts for less than 3% of all osteomyelitis cases. It may occur due to contiguous spread, due to hematogenous spread, or secondary to subclavian catheterization.
Shishir Murugharaj Suranigi, Manoj Joshi, Pascal Noel Deniese, Kanagasabai Rangasamy, Syed Najimudeen, James J. Gnanadoss   +5 more
doaj   +1 more source

Evaluation of ankle joint synovitis in diabetic neuroosteoarthropathy in relation to an inflammatory phase of chronic osteomyelitis

Гений oртопедии, 2022
Diabetic neuroosteoarthropathy complicated by osteomyelitis is one of the severe conditions of the ankle joint in patients with diabetes. The role of the synovium in the pathogenesis of this disease remains poorly understood.
Tatiana A. Stupina, Nikolai S. Migalkin, Anatolii S. Sudnitsyn, Igor N. Mezentsev   +3 more
doaj   +1 more source

Skeletal pathologies in extant crocodilians as a window into the paleopathology of fossil archosaurs

The Anatomical Record, EarlyView.
Abstract Crocodilians, together with birds, are the only extant relatives to many extinct archosaur groups, making them highly important for interpreting paleopathological conditions in a phylogenetic disease bracketing model. Despite this, comprehensive data on osteopathologies in crocodilians remain scarce.
Alexis Cornille, Kyla Beguesse, Ewan Wolff, Clemens Zinner, Patrick Asbach, François Clarac, Florian Witzmann   +6 more
wiley   +1 more source