Few studies have analyzed the microstructural properties of bone in cases of Osteogenenis Imperfecta (OI), or 'brittle bone disease'. Current approaches mainly focus on bone mineral density measurements as an indirect indicator of bone strength and quality. It has been shown that bone strength would depend not only on composition but also structural organization. This study aims to characterize 3D structure of the cortical bone in high-resolution micro CT images. A total of 40 bone fragments from 28 subjects (13 with OI and 15 healthy controls) were imaged using micro tomography using a synchrotron light source (SRμCT). Minkowski functionals - volume, surface, curvature, and Euler characteristics - describing the topological organization of the bone were computed from the images. The features were used in a machine learning task to classify between healthy and OI bone. The best classification performance (mean AUC - 0.96) was achieved with a combined 4-dimensional feature of all Minkowski functionals. Individually, the best feature performance was seen using curvature (mean AUC - 0.85), which characterizes the edges within a binary object. These results show that quantitative analysis of cortical bone microstructure, in a computer-aided diagnostics framework, can be used to distinguish between healthy and OI bone with high accuracy.
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http://dx.doi.org/10.1117/12.2254421 | DOI Listing |
Head Neck
January 2025
Department of Otolaryngology, Head and Neck Surgery, Princess Alexandra Hospital, Queensland Skull Base Unit, Brisbane, Queensland, Australia.
Background: Standardized surgical approaches to advanced pre-auricular cutaneous squamous cell carcinomas (cSCC) are lacking.
Methods: Fifty-four patients who underwent lateral temporal bone resection (LTBR) for pre-auricular cSCC were grouped into "Levels" of increasing disease spread. Surgical approaches to achieve negative-margin resection were designed for each Level and replicated on cadaveric specimens.
Int J Immunogenet
January 2025
Department of Clinical Haematology and Medical Oncology, Postgraduate Institute of Medical Education & Research, Chandigarh, India.
High degree of variability in human leukocyte antigens (HLAs) system restricts availability of histocompatible HLA-matched-related donors, thus increasing reliance on worldwide bone marrow registries network. Nevertheless, due to limited coverage/accessibility/affordability of some ethnicities in these registries, haploidentical haematopoietic stem cell transplantation (HSCT) emerged as an alternative option, though with allorecognition-mediated graft versus host disease (GvHD) (>40% cases). A dimorphism [-21 methionine (M) or threonine (T)] in HLA-B leader peptide (exon 1) which differentially influences its HLA-E binding, plausibly regulates natural killer cell functionality, affecting GvHD vulnerability and clinically in practice for donor selection.
View Article and Find Full Text PDFKnee Surg Sports Traumatol Arthrosc
January 2025
Department of Joint Surgery and Sports Medicine, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Purpose: This study aimed to investigate whether combining the analysis of different magnetic resonance imaging (MRI) signs enhances the diagnostic accuracy of lateral meniscus posterior root tears (LMPRTs) in patients with anterior cruciate ligament (ACL) injuries. We hypothesised that analysing the cleft, ghost and truncated triangle signs and lateral meniscus extrusion (LME) measurement together would improve the preoperative MRI-based diagnosis of LMPRTs.
Methods: This retrospective study used prospectively collected registry data from two academic centres, including patients undergoing primary or revision ACL reconstruction (ACLR) and LMPRT repair.
Orthod Craniofac Res
January 2025
Department of Orthodontics, Dental School, Okan University, Istanbul, Turkey.
Objective: Primary aim was to analyse dentoalveolar and skeletal effects induced by an anterior open bite (AOB) treatment protocol for intrusion of maxillary buccal segment. Secondary aim was to investigate whether a subsequent change occurred in hyoid position.
Materials And Methods: Study group included 28 non-growing subjects treated in academic setting for correction of AOB.
Am J Med Genet A
January 2025
Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
TBCK (TBC1 Domain-Containing Kinase) encodes a protein playing a role in actin organization and cell growth/proliferation via the mTOR signaling pathway. Deleterious biallelic TBCK variants cause Hypotonia, infantile, with psychomotor retardation and characteristic facies 3. We report on three affected sibs, also displaying cardiac malformations.
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