A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Background: The dynein cytoplasmic two heavy chain 1 (DYNC2H1) gene encodes a cytoplasmic dynein subunit. Cytoplasmic dyneins transport cargo towards the minus end of microtubules and are thus termed the "retrograde" cellular motor. Mutations in DYNC2H1 are the main causative mutations of short rib-thoracic dysplasia syndrome type III with or without polydactyly (SRTD3).

The PROPHECI trial: a phase II, double-blind, placebo-controlled, randomized clinical trial for the treatment of pseudoxanthoma elasticum with oral pyrophosphate.

Background: /aims. Pseudoxanthoma Elasticum (PXE, OMIM 264800) is an autosomal, recessive, metabolic disorder characterized by progressive ectopic calcification in the skin, the vasculature and Bruch's membrane. Variants in the ABCC6 gene are associated with low plasma pyrophosphate (PPi) concentration.

Optimisation of low and ultra-low dose scanning protocols for ultra-extended field of view PET in a real-world clinical setting.

True total-body and extended axial field-of-view (AFOV) PET/CT with 1m or more of body coverage are now commercially available and dramatically increase system sensitivity over conventional AFOV PET/CT. The Siemens Biograph Vision Quadra (Quadra), with an AFOV of 106cm, potentially allows use of significantly lower administered radiopharmaceuticals as well as reduced scan times. The aim of this study was to optimise acquisition protocols for routine clinical imaging with FDG on the Quadra the prioritisation of reduced activity given physical infrastructure constraints in our facility.

Predictive factors of fibrotic interstitial lung abnormality on high-resolution computed tomography scans: a prospective observational study.

Background: Fibrotic types of interstitial lung abnormalities seen on high-resolution computed tomography scans, characterised by traction bronchiolectasis/bronchiectasis with or without honeycombing, are predictors of progression and poor prognostic factors of interstitial lung abnormalities. There are no reports on the clinical characteristics of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans. Therefore, we aimed to examine these clinical characteristics and clarify the predictive factors of fibrotic interstitial lung abnormalities on high-resolution computed tomography scans.

Polyp and tumor microenvironment reprogramming in colorectal cancer: insights from mucosal bacteriome and metabolite crosstalk.

Background: Highly frequent colorectal cancer (CRC) is predicted to have 3.2 million novel cases by 2040. Tumor microenvironment (TME) bacteriome and metabolites are proposed to be involved in CRC development.

Exosomal miR-122 derived from M2 macrophages induces osteogenic differentiation of bone marrow mesenchymal stem cells in the treatment of alcoholic osteonecrosis of the femoral head.

Alcoholic osteonecrosis of the femoral head (AIONFH) is caused by long-term heavy drinking, which leads to abnormal alcohol and lipid metabolism, resulting in femoral head tissue damage, and then pathological necrosis of femoral head tissue. If not treated in time in clinical practice, it will seriously affect the quality of life of patients and even require hip replacement to treat alcoholic femoral head necrosis. This study will confirm whether M2 macrophage exosome (M2-Exo) miR-122 mediates alcohol-induced BMSCs osteogenic differentiation, ultimately leading to the inhibition of femoral head necrosis.

Medical Student Musculoskeletal Knowledge: Examining the Impact and Value of an Orthopaedic Surgery Clerkship Using the Freedman and Bernstein Examination.

Purpose: Given the importance of musculoskeletal knowledge but the limited orthopaedic instruction offered in medical school, our Orthopaedic Surgery Department developed a three-week clerkship for interested students. This study assesses the clerkship's impact on medical student musculoskeletal knowledge through administration of the Freedman and Bernstein Basic Cognitive Musculoskeletal Examination.

Methods: Medical students enrolled in the orthopaedic surgery clerkship between February 2019 and May 2024 were asked to participate in pre- and post-clerkship surveys using the Freedman and Bernstein Basic Cognitive Musculoskeletal Examination.

CT-sensitized nanoprobe for effective early diagnosis and treatment of pulmonary fibrosis.

Early diagnosis is critical for providing a timely window for effective therapy in pulmonary fibrosis (PF); however, achieving this remains a significant challenge. The distinct honeycombing patterns observed in computed tomography (CT) for the primary diagnosis of PF are typically only visible in patients with moderate to severe disease, often leading to missed opportunities for early intervention. In this study, we developed a nanoprobe designed to accumulate at fibroblastic foci and loaded with the CT sensitizer iodide to enable effective early diagnosis of PF.

The effects of the positioning of a bolt in the femoral neck system on the short-term outcomes of middle-aged and young adults with displaced femoral neck fractures.

Background: To analyze the effects of the positioning of a bolt in the femoral neck system (FNS) on the short-term outcomes of middle-aged and young adults with displaced femoral neck fractures (FNFs).

Methods: This was a retrospective study involving 114 middle-aged and young adults with displaced FNFs who were surgically treated with internal fixation via the FNS in the Department of Orthopedics, Suzhou Municipal Hospital, from December 2019 to January 2023. The degree of deviation of the central axis of the femoral head and neck from the tip of the bolt (W), the tip‒apex distance (TAD) and the length of femoral neck shortening (LFNS) were measured on postoperative X-ray and computed tomography (CT) scan images.

Langerhans cell histiocytosis in children: the value of ultrasound in diagnosis and follow-up.

Background: Langerhans cell histiocytosis (LCH) is a rare disease, most prevalent in children. Ultrasound is a noninvasive, cheap, and widely available technique. However, systematic elucidation of sonographic features of LCH and treatment related follow-up are relatively few, resulting in overall underestimation of the clinical value of ultrasound in diagnosing and monitoring LCH.

Prediction of pulmonary function decline in fibrous interstitial lung abnormalities based on quantitative chest CT parameters.

Background: Interstitial lung abnormalities (ILA) are a proposed imaging concept. Fibrous ILA have a higher risk of progression and death. Clinically, computed tomography (CT) examination is a frequently used and convenient method compared with pulmonary function tests.

Fully automated segmentation and classification of renal tumors on CT scans via machine learning.

Background: To develop and test the performance of a fully automated system for classifying renal tumor subtypes via deep machine learning for automated segmentation and classification.

Materials And Methods: The model was developed using computed tomography (CT) images of pathologically proven renal tumors collected from a prospective cohort at a medical center between March 2016 and December 2020. A total of 561 renal tumors were included: 233 clear cell renal cell carcinomas (RCCs), 82 papillary RCCs, 74 chromophobe RCCs, and 172 angiomyolipomas.

Shaping epithelial tissues by stem cell mechanics in development and cancer.

Adult stem cells balance self-renewal and differentiation to build, maintain and repair tissues. The role of signalling pathways and transcriptional networks in controlling stem cell function has been extensively studied, but there is increasing appreciation that mechanical forces also have a crucial regulatory role. Mechanical forces, signalling pathways and transcriptional networks must be coordinated across diverse length and timescales to maintain tissue homeostasis and function.

A deep learning analysis for dual healthcare system users and risk of opioid use disorder.

The opioid crisis has disproportionately affected U.S. veterans, leading the Veterans Health Administration to implement opioid prescribing guidelines.

Assessing plastic ingestion in the White stork (Ciconia ciconia) through regurgitated pellets.

Pollution is one of the main factors that threaten biodiversity nowadays. Plastic waste is a global problem which impacts not only on the marine environment but also on the terrestrial one. Great amounts of this kind of refuse are compiled in landfills, where lots of avian species feed.

Deep learning reconstruction of zero-echo time sequences to improve visualization of osseous structures and associated pathologies in MRI of cervical spine.

Objectives: To determine whether deep learning-based reconstructions of zero-echo-time (ZTE-DL) sequences enhance image quality and bone visualization in cervical spine MRI compared to traditional zero-echo-time (ZTE) techniques, and to assess the added value of ZTE-DL sequences alongside standard cervical spine MRI for comprehensive pathology evaluation.

Methods: In this retrospective study, 52 patients underwent cervical spine MRI using ZTE, ZTE-DL, and T2-weighted 3D sequences on a 1.5-Tesla scanner.

Imaging of elbow entrapment neuropathies.

Entrapment neuropathies at the elbow are common in clinical practice and require an accurate diagnosis for effective management. Understanding the imaging characteristics of these conditions is essential for confirming diagnoses and identifying underlying causes. Ultrasound serves as the primary imaging modality for evaluating nerve structure and movement, while MRI is superior for detecting muscle denervation.

ESR Essentials: imaging of common paediatric pulmonary diseases-practice recommendations by the European Society of Paediatric Radiology.

Chest imaging in children presents unique challenges due to varying requirements across age groups. For chest radiographs, achieving optimal images often involves careful positioning and immobilisation techniques. Antero-posterior projections are easier to obtain in younger children, while lateral decubitus radiographs are sometimes used when expiratory images are difficult to obtain and for free air exclusion.

Diagnostic accuracy of ultra-low-dose chest CT vs chest X-ray for acute non-traumatic pulmonary diseases.

Objectives: To compare the diagnostic accuracy of ULDCT to CXR for detecting non-traumatic pulmonary diseases at the emergency department (ED) and to study diagnostic confidence levels.

Methods: Secondary analysis of the prospective OPTIMACT trial (2418 ED participants randomly allocated to ULDCT or CXR). Diagnoses at imaging at the ED were compared to the reference diagnosis on day 28.

Differences in Body Composition, Bone Density, and Tibial Microarchitecture in Division I Female Athletes Participating in Different Impact Loading Sports.

Sport participation affects body composition and bone health, but the association between sport, body composition, and bone health in female athletes is complex. We compared areal bone mineral density (aBMD, DXA) and tibial volumetric bone mineral density (vBMD), geometry, microarchitecture, and estimated strength (HR-pQCT) in cross-country runners (n = 22), gymnasts (n = 23) and lacrosse players (n = 35), and investigated associations of total body lean mass (TBLM), team, and their interaction with tibial bone outcomes. Total body (TB), total hip (TH), femoral neck (FN), and lumbar spine (LS) aBMD were higher in gymnasts than runners (p < 0.

Determining the status of tertiary lymphoid structures in invasive pulmonary adenocarcinoma based on chest CT radiomic features.

Objectives: The aim of this study was to determine the status of tertiary lymphoid structures (TLSs) using radiomic features in patients with invasive pulmonary adenocarcinoma (IA).

Methods: In this retrospective study, patients with IA from November 2015 to March 2024 were recruited from two independent centers (center 1, training and internal test data set; center 2, external test data set). TLS was divided into two groups according to hematoxylin-eosin staining.

Ongoing Symptoms and Concerns Experienced by Low-Risk Breast Cancer Survivors Following Active Treatment.

Introduction: Little is known about the symptom burden of breast cancer survivors with early-stage disease. Many studies have focused on symptoms of patients who are undergoing or recently completed systemic therapy. However, with the increased use of Oncotype DX, the proportion of early-stage hormone receptor-positive patients who undergo chemotherapy has declined, making existing studies of the symptom experience less useful for these patients.

Generative AI as a tool to accelerate the field of ecology.

The emergence of generative artificial intelligence (AI) models specializing in the generation of new data with the statistical patterns and properties of the data upon which the models were trained has profoundly influenced a range of academic disciplines, industry and public discourse. Combined with the vast amounts of diverse data now available to ecologists, from genetic sequences to remotely sensed animal tracks, generative AI presents enormous potential applications within ecology. Here we draw upon a range of fields to discuss unique potential applications in which generative AI could accelerate the field of ecology, including augmenting data-scarce datasets, extending observations of ecological patterns and increasing the accessibility of ecological data.

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.

Neural signatures of risk-taking adaptions across health, bipolar disorder, and lithium treatment.

Cognitive and neural mechanisms underlying bipolar disorder (BD) and its treatment are still poorly understood. Here we examined the role of adaptations in risk-taking using a reward-guided decision-making task. We recruited volunteers with high (n = 40) scores on the Mood Disorder Questionnaire, MDQ, suspected of high risk for bipolar disorder and those with low-risk scores (n = 37).