Results 81 to 90 of about 51,873 (287)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

A novel knee prosthesis model of implant-related osteo- myelitis in rats [PDF]

open access: yes, 2012
Background and purpose: There have been numerous reports of animal models of osteomyelitis. Very few of these have been prosthesis models that imitate human conditions.
Jensen, Asger Lundorff   +7 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

[Results of treatment of hip joint prosthesis-related infections].

open access: yesLijecnicki vjesnik, 2000
The article present results of the operative treatment of deep infections in the hip joint prostheses. Ninetieth patients treated from 1980 through 1998 were analysed. Gram-positive organisms were found in 65% of the cases and gram-negative in 35%. Staphylococcus aureus were isolated in 50% of the cases.
A, Maricević, M, Erceg, M, Kljaković
openaire   +1 more source

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang   +4 more
wiley   +1 more source

Additional file 2 of Can nasal Staphylococcus aureus screening and decolonization prior to elective total joint arthroplasty reduce surgical site and prosthesis-related infections? A systematic review and meta-analysis

open access: yes, 2020
Additional file 2. Risk-of-bias assessment for the studies included in the meta-analysis.
Zhu, Xingyang   +6 more
openaire   +1 more source

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

open access: yesAdvanced 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   +2 more
wiley   +1 more source

Is a Single Dose of Antibiotic Prophylaxis Sufficient to Prevent Infections in Total Joint Arthroplasty?

open access: yesVan Tıp Dergisi
INTRODUCTION: Prosthetic infection is a serious complication that can develop after knee and hip arthroplasty and remains a common reason for revision surgery.
Şehmuz Kaya   +3 more
doaj   +1 more source

‘All in a box’ a concept for optimizing microbiological diagnostic sampling in prosthetic joint infections [PDF]

open access: yes, 2014
BACKGROUND: Accurate microbial diagnosis is crucial for effective management of prosthetic joint infections. Culturing of multiple intraoperative tissue samples has increased diagnostic accuracy, but new preparatory techniques and molecular methods hold ...
Christian Pedersen   +6 more
core   +2 more sources

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