Results 61 to 70 of about 82,122 (309)

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

Nanocidals therapy for osteomyelitis [PDF]

, 2012
Infection is a major medical problem that causes serious complications including patient death. The mortality rate of invasive infection has reduced significantly since the introduction of antibiotherapy. However, the resistance to antibiotic is becoming
Qadri, Shahnaz Majid, NC DOCKS at The University of North Carolina at Greensboro   +1 more
core  

Distally based sural flaps for soft tissue defects following traumatic osteomyelitis of lower leg and foot

Scientific Reports
This retrospective study aimed to determine the incidence and risk factors for osteomyelitis recurrence and present our experiences in treating traumatic osteomyelitis in the lower leg and foot.
Shunhong Luo, Yingliang Jiang, Zhonggen Dong, Xiao Peng, Shimu Shi, Zhaobiao Luo, Shibin Tao, Jianwei Wei   +7 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

A Case of Severe Chronic Multifocal Osteomyelitis of the Skull Caused by Klebsiella pneumoniae in Mali [PDF]

, 2023
Ke Xu,1,2 Dara Charles,3 Salami Ismael,3 Jun Zhang4 1Laboratory Medicine Center, Department of Clinical Laboratory, Zhejiang Provincial People’s Hospital (Affiliated People’s Hospital, Hangzhou Medical College), Hangzhou, People’s Republic of China ...
Xu K, Charles D, Ismael S, Zhang J
core  

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

Correlation Analysis between Chronic Osteomyelitis and Bacterial Biofilm

Stem Cells International, 2022
Objective. To study the role of bacterial biofilm (BBF) in the formation of chronic osteomyelitis and its prevention and treatment. Methods. In this paper, a large amount of relevant literature was searched for analysis and summary, and the key words ...
Kai Huang, Bingyuan Lin, Yiyang Liu, Haiyong Ren, Qiaofeng Guo   +4 more
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

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

Treatment of a refractory chronic osteomyelitis of the jaw [PDF]

, 1990
P(論文)Two cases of refractory chronic osteomyelitis of the jaw were presented, the first in a patient with pycnodysostosis, the second that had been receiving radjotherapy. Both cases were primary chronic osteomyelitis with a markedly protracted course of
佐々木, 泰裕, 武藤, 寿孝, 北村, 完二, 22554, 34800, 道谷, 弘之, 奥村, 一彦, 34808, 34807, 34806, 34805, 34804, 34803, 34802, 34801, 富田, 喜内, 松崎, 弘明, 山田, 雄, 金澤, 正昭, 谷内, 健司, 34809, 小西, 亮, 村瀬, 博文, 34811, 34799, 34810, 34798, 江上, 史論, 秋山, 幸生, 冨岡, 敬子, 中川, 哲郎, 34812   +31 more
core   +1 more source