Med Biol Eng Comput
January 2025
Finite element analysis has become indispensable for biomechanical research on clavicle fractures. This review summarized evidence regarding configurations and applications of finite element analysis in clavicle fracture fixation. Seventeen articles involving 22 clavicles were synthesized from CINAHL, Embase, IEEE Xplore, PubMed, Scopus, and Web of Science databases.
View Article and Find Full Text PDFUnlabelled: The gut microbiota influences systemic immunity and the function of distal tissues, including the brain, liver, skin, lung, and muscle. However, the role of the gut microbiota in the foreign body response (FBR) and fibrosis around medical implants is largely unexplored. To investigate this connection, we perturbed the homeostasis of the murine gut microbiota via enterotoxigenic (ETBF) infection and implanted the synthetic polymer polycaprolactone (PCL) into a distal muscle injury.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Biallelic loss-of-function variants in AP4S1 cause childhood-onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same AP4S1 variant (NM_007077.
View Article and Find Full Text PDFMultiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians to understand genetic variants. Here we describe the 2024 update to MaveDB ( https://www.mavedb.
View Article and Find Full Text PDFAnn Clin Transl Neurol
January 2025
Uniparental isodisomy (UPiD) can cause mixed phenotypes of imprinting disorders and autosomal-recessive diseases. We present the case of a 3-year-old male with a blended phenotype of TECPR2-related hereditary sensory and autonomic neuropathy (HSAN9) and Temple syndrome (TS14) due to maternal UPiD of chromosome 14, which includes a loss-of-function founder variant in the TECPR2 gene [NM_014844.5: c.
View Article and Find Full Text PDFObjective: Scleroderma is a life-threatening autoimmune disease characterized by inflammation, tissue remodelling, and fibrosis. This study aimed to investigate the expression and function of transglutaminase 2 (TGM2) in scleroderma skin and experimentally-induced dermal fibrosis to determine its potential role and therapeutic implications.
Methods: We performed immunohistochemistry on skin sections to assess TGM2 expression and localisation, and protein biochemistry of both SSc-derived and healthy control dermal fibroblasts to assess TGM2 expression, function and ECM deposition in the presence of a TGM2 and TGFβ neutralizing antibodies and a small molecule inhibitor of the TGFβRI kinase.
J Vasc Interv Radiol
January 2025
Purpose: To understand the state of IR practice and education worldwide and identify factors impacting access to IR services.
Methods And Materials: A Society of Interventional Radiology (SIR) approved anonymous survey was created to gather demographics, regional IR practice and education characteristics, and challenges impacting local IR development. The survey was distributed to members of global IR societies and shared on social media from 6/2022 to 9/2023.
The mediastinal vasculature can be affected by various etiologies in cancer patients. Both direct and indirect sequela of cancer may result in life-threatening clinical presentations. Tumor growth may cause vessel narrowing and decreased blood flow from either extrinsic mass effect, invasion into the vascular wall, or tumor thrombus within the lumen.
View Article and Find Full Text PDFAutosomal-dominant variants in the CPT1C gene have been associated with hereditary spastic paraplegia type 73 (SPG73), which typically presents with slowly progressive lower limb weakness and spasticity and is therefore considered a pure form of hereditary spastic paraplegia. However, we report two unrelated males with novel CPT1C variants (NM_001199753.2: patient 1: c.
View Article and Find Full Text PDFPurpose: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modeling the natural history, and uncovering genotype-phenotype associations.
Methods: A cross-sectional analysis of 90 published and 1 novel case was performed, using a Human-Phenotype-Ontology-based approach.
Objective: To evaluate the relevance of established surgical risk calculators for predicting complications in patients undergoing percutaneous lung cryoablation (PLC).
Methods: The institution's database was queried for PLC procedures from March 2015 to May 2024, excluding those patients with concomitant local therapies or five or more lesions treated in a single setting. Demographics, frailty metrics as defined by the surgical literature, and procedural variables were collected.
Purpose: There are currently limited data regarding patient perceptions and fears related to radiation therapy (RT). This study sought to identify and quantify patient concerns regarding RT and to determine the potential value of assessing these expectations prior to initial consultation.
Methods And Materials: Patients with no prior history of RT were invited to complete an investigator-developed anonymous electronic survey prior to consultation.
Although seasonal changes were suggested to be among the many factors that affect thyroid functions, this issue is still controversial. In this study, we aimed to investigate the possible relationship between seasonal changes and thyroid function. We retrospectively scanned all thyroid-stimulating hormone (TSH), free triiodothyronine (FT3), and free thyroxine (FT4) values checked in our hospital between 2019 and 2023.
View Article and Find Full Text PDFAutosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).
View Article and Find Full Text PDFMotile cilia are unique organelles with the ability to autonomously move. Force generated by beating cilia propels cells and moves fluids. The ciliary skeleton is made of peripheral doublet microtubules and a central pair (CP) with a distinct structure at the tip.
View Article and Find Full Text PDFBackground: Liver venous deprivation (LVD) is known to induce better future liver remnant (FLR) hypertrophy than portal vein embolization (PVE). The role of LVD, compared with PVE, in inducing FLR hypertrophy and allowing safe hepatectomy for patients with extensive colorectal liver metastases (CLM) and high-risk factors for inadequate hypertrophy remains unclear.
Methods: Patients undergoing LVD (n = 22) were matched to patients undergoing PVE (n = 279) in a 1:3 ratio based on propensity scores, prior to planned hepatectomy for CLM at a single center (1998-2023).
Introduction: Acute stress, the psychological response to short-term challenging stimuli, is frequently encountered in the high-pressure environment of the operating theatre. Surgeon stress is associated with deterioration in surgical performance, surgical team working and compromised patient safety. Given these concerns, the aim of this review was to understand the impact of acute stress on surgical performance in technical and non-technical domains as well as patient outcomes.
View Article and Find Full Text PDFThis qualitative study explores the lived experiences of parent-child dyads to understand the occurrence of parentification in Chinese families affected by parental depression. Utilizing purposive sampling, families were recruited from community mental health services in Hong Kong, focusing on parents with major depressive disorder and their adolescent children. Data were collected from 14 families through in-depth, semistructured interviews with adolescents (n = 8) and parents (n = 12), as well as dyadic interviews (n = 8), and analyzed utilizing thematic analysis.
View Article and Find Full Text PDFWe combine an off-lattice agent-based mathematical model and experimentation to explore filamentous growth of a yeast colony. Under environmental stress, Saccharomyces cerevisiae yeast cells can transition from a bipolar (sated) to unipolar (pseudohyphal) budding mechanism, where cells elongate and bud end-to-end. This budding asymmetry yields spatially non-uniform growth, where filaments extend away from the colony centre, foraging for food.
View Article and Find Full Text PDFBackground: Migraine can affect adults during their most productive years, yet few studies in Canada have examined the relationship between migraine-related disability and productivity loss. In particular, the impact of migraine on unpaid productivity loss has not been quantified.
Methods: In this cross-sectional study, employed adults living with migraine were recruited from across Canada to complete a web-based questionnaire.