Identification of Novel and Rare GNAS Mutations in Craniofacial Fibrous Dysplasia.

Background: Fibrous dysplasia (FD), caused by activating mutations of GNAS, is a skeletal disorder with considerable clinicopathological heterogeneity. Although prevalent mutations such as R201C and R201H dominate in FD, a limited number of rare mutations, including R201S, R201G, and Q227L, have been documented. The scarcity of information concerning these uncommon mutations motivates our investigation, seeking to enhance comprehension of this less-explored subgroup within FD.

Pericarpium Trichosanthis Inhibits TGF-β1-Smad3 Pathway-Induced Cardiac Fibrosis in Heart Failure Rats via Upregulation of microRNA-29b.

Cardiac dysfunction and adverse consequences induced by cardiac fibrosis have been well documented. However, the cardiac fibrosis pathway in chronic heart failure (CHF) remains unclear, and it is therefore necessary to conduct further research for the sake of developing more effective therapeutic strategies for CHF. Some recent studies suggest that Pericarpium Trichosanthis (PT) may help improve the progression of fibrotic diseases.

Long-term Outcomes of Definitive Chemoradiation with Proton Therapy for Treatment of Carcinoma of the Anal Canal: Combined Analysis of Two Prospective Trials.

Purpose/objective(s): While definitive chemoradiation (CRT) with 5-FU/MMC remains the standard of care for localized anal cancer, treatment is associated with significant acute and late toxicity. Proton radiation therapy (RT) may potentially reduce such toxicity. Here, we assess the long-term outcomes of anal cancer patients treated with CRT using proton RT in two prospective pilot studies.

In-depth Computational Analysis Reveals The Significant Dysregulation of Key Gap Junction Proteins (GJPs) Driving Thoracic Aortic Aneurysm Development.

Objective: Thoracic Aortic Aneurysm (TAA) represents an aortic pathology that is caused by the deranged integrity of the three layers of the aortic wall, and is related to severe morbidity and mortality. Consequently, it is crucial to identify the biomarkers implicated in the pathogenesis and biology of TAA. The aim of the current computational study was to assess the differential gene expression profile of the gap junction proteins (GJPs) in patients with TAA in order to identify novel potential biomarkers for the diagnosis and treatment of this disease.

Genetic diversity and intercontinental dispersal of temperate and subarctic populations of Dibothriocephalus dendriticus (Cestoda; Diphyllobothriidea), a causative agent of dibothriocephalosis.

The diphyllobothriid tapeworm Dibothriocephalus dendriticus, one of the causative agents of the fish-borne zoonosis dibothriocephalosis, is mainly distributed in the Arctic/subarctic and temperate zones of the Northern Hemisphere (Europe, North America, and Asia), but also in the southern cone region of South America (Patagonia). The genetic structure and gene flow among 589 individuals of D. dendriticus, representing 20 populations, were studied using the mitochondrial cox1 gene as the first choice marker and 10 polymorphic nuclear microsatellite loci as a dominant molecular tool.

TP53 genetic heterogeneity in recurrent or second primary head and neck squamous cell carcinoma.

Head and neck squamous cell carcinomas (HNSCC) frequently recur, and patients often develop second primary tumors. Their distinction is clinically challenging. TP53 mutational heterogeneity may indicate novel molecular events rather than resistant clones' expansion or persistent disease.

Fractional flow reserve (FFR) and index of microcirculatory resistance (IMR) relationship in patients with chronic or stabilized acute coronary syndromes.

Aims: To investigate the influence of index of microcirculatory resistance (IMR) on fractional flow reserve (FFR) and adenosine-induced hyperemia (ΔPd/Pa-FFR) in patients with chronic (CCS) or stabilized acute coronary syndromes (ACS), utilizing various IMR threshold values.

Methods: Data were extracted from two ongoing Italian registries involving patients with CCS or stabilized ACS who underwent a #FullPhysiology approach [Pd/Pa, FFR, IMR, coronary flow reserve (CFR)] by bolus thermodilution technique in the left anterior descending artery. Correlations between IMR and both FFR and ΔPd/Pa-FFR were analyzed both globally and within three IMR-defined groups: Group 1 (IMR <25), Group 2 (25 ≤ IMR <40), and Group 3 (IMR ≥40).

Gut microbiota in Alzheimer's disease: understanding molecular pathways and potential therapeutic perspectives.

Accumulating evidence suggests that gut microbiota (GM) plays a crucial role in Alzheimer's disease (AD) pathogenesis and progression. This narrative review explores the complex interplay between GM, the immune system, and the central nervous system in AD. We discuss mechanisms through which GM dysbiosis can compromise intestinal barrier integrity, enabling pro-inflammatory molecules and metabolites to enter systemic circulation and the brain, potentially contributing to AD hallmarks.

Markedly elevated citrulline in a neonate: Citrin deficiency due to a previously unreported SLC25A13 variant.

Background: Citrin deficiency (CD) is an autosomal recessive metabolic disorder affecting the urea cycle and energy production. Diagnosis involves measuring ammonia, amino acid levels (eg: citrulline), with confirmation through solute carrier family 25 member 13 (SLC25A13) gene mutation analysis. Herein, we present a case report of a variant in the SLC25A13 gene that has not been previously reported in the literature.

Further insights into the molecular mechanisms underlying tobacco straw cultivation of Pleurotus ostreatus by comparative transcriptome analyses.

Cultivation of edible mushrooms on straw can significantly reduce production costs, provide notable environmental and ecological benefits. However, the molecular mechanisms via which mushrooms utilize straw are not well understood. We conducted a comparative transcriptomic analysis of oyster mushrooms cultivated on two different biomass substrates, namely, corncob and tobacco straw at various developmental stages.

Role and applications of [F]FDG PET/CT in the assessment of osteoarticular infection and inflammation - Part II.

[F]FDG PET/TC is an emerging tool in the evaluation of inflammatory arthropathies, characterised by their insidious course and clinical overlap. It allows detection of subclinical inflammation, assessment of systemic involvement and quantification of metabolic parameters useful in early diagnosis and therapeutic monitoring. In rheumatoid arthritis, it correlates with clinical indices (Disease Activity Score), serological markers (CRP, anti-citrullinated protein antibodies) and ultrasound findings, and facilitates the identification of complications such as cardiovascular and pulmonary involvement.

Compensation Study of Vascular Surgeons in the United States.

Objective: The Society for Vascular Surgery (SVS) partnered with Phairify, Inc, an organization with experience in physician compensation data compilation for several other medical specialties, to survey its membership and assess factors influencing vascular surgeon compensation.

Methods: The SVS Compensation Study Task Force developed a vascular surgery-specific survey between January 2023 and May 2023 including experience level, academic rank, bonuses, incentives, gender, race, ethnicity, geography, on-call pay, and other factors influencing overall reimbursement. After a soft launch on May 1, 2023, with an initial phase of SVS leadership engagement in completion, the survey was formally introduced to the SVS membership on June 14, 2023.

Delayed or forgone medical care associated with increased resource utilization and health care expenditures among patients with peripheral artery disease in the United States.

Background: PAD affects >12 million Americans and poses significant financial burdens on patients, but the relationship between delayed/forgone (D/F) care and resource use in this population is unknown. We sought to assess the relationship between D/F care, resource use, and health care expenditures among patients with PAD.

Methods: Adults with PAD in the US were identified in the Medical Expenditure Panel Survey for years 2007-2017.

Quantification of 3D microstructures in Achilles tendons during in situ loading reveals anisotropic fiber response.

While the number of studies investigating Achilles tendon pathologies has grown exponentially, more research is needed to gain a better understanding of the complex relation between its hierarchical structure, mechanical response, and failure. At the microscale, collagen fibers are, with some degree of dispersion, primarily aligned along the principal loading direction. However, during tension, rearrangements and reorientations of these fibers are believed to occur.

Emergence of Invasive Streptococcus dysgalactiae subsp. equisimilis in Spain (2012-2022): Genomic Insights and Clinical Correlations.

Objectives: An increase in Streptococcus dysgalactiae subsp. equisimilis (SDSE) infections has been documented worldwide. This study aims to analyse invasive disease caused by SDSE (iSDSE) in adults over an 11-year period in Spain.

Quality of Gastrointestinal Surgical Oncology Care According to Insurance Status.

Background: Despite efforts to expand insurance coverage, substantial inequalities persist, particularly in cancer treatment. We aimed to evaluate whether quality disparities exist across major insurance plans for patients undergoing curative-intent resection for gastrointestinal (GI) cancers.

Methods: This is a retrospective study of adult patients in the National Cancer Database (NCDB) diagnosed with GI malignant neoplasms between January 1, 2004 and December 31, 2020.

Risk of colorectal cancer associated with frequency of colorectal polyp diagnosis in relatives.

Background & Aims: We aimed to evaluate the association of frequency of polyp diagnosis in relatives with the risk of overall and early-onset colorectal cancer (CRC).

Methods: We leveraged data from nationwide Swedish family cancer datasets (1964-2018) to calculate standardized incidence ratios (SIRs) for individuals with a family history of polyp by frequency of polyp diagnosis in family members.

Results: We followed up 11,676,043 individuals for up to 54 years.

Deep Learning for Classification of Inflammatory Bowel Disease Activity in Whole Slide Images of Colonic Histopathology.

Grading activity of inflammatory bowel disease (IBD) using standardized histopathological scoring systems remains challenging due to limited availability of pathologists with IBD expertise and inter-observer variability. In this study, a deep learning model was developed to classify activity grades in hematoxylin and eosin-stained whole slide images (WSIs) from patients with IBD, offering a robust approach for general pathologists. This study utilized 2,077 WSIs from 636 patients who visited Dartmouth-Hitchcock Medical Center in 2018 and 2019, scanned at 40× magnification (0.

Immune Biomarkers on Tissue Microarray Cores Support the Presence of Adjacent Tertiary Lymphoid Structures in Soft Tissue Sarcoma.

Immunotherapy has emerged as a new treatment modality in some soft tissue sarcomas, particularly for tumors associated with tertiary lymphoid structures (TLS). These structures are functional lymphoid aggregates, and their presence is indicative of an active anticancer immune response in the tumor microenvironment. The assessment of TLS as a predictive biomarker at scale on patient specimens remains challenging.

Assessment of complementary white matter microstructural changes and grey matter atrophy in the 6-OHDA-induced model of Parkinson's disease.

Parkinson's disease (PD) is a progressive neurodegenerative disorder that is characterized by motor symptoms such as tremors, rigidity, and bradykinesia. Magnetic resonance imaging (MRI) offers a non-invasive means to study PD and its progression. This study utilized the unilateral 6-hydroxydopamine (6-OHDA) rat model of parkinsonism to assess whether white matter microstructural integrity measured using advanced free-water diffusion tensor imaging metrics (fw-DTI) and gray matter density using voxel-based morphometry (VBM) can serve as imaging biomarkers of pathological changes following nigrostriatal denervation.

The investigation of peripheral inflammatory and oxidative stress biomarkers in dementia with Lewy Bodies, compared with Alzheimer's Disease, and mild cognitive impairment.

Although inflammation and oxidative stress have been increasingly recognised as components of Alzheimer's disease (AD) and Parkinson's disease (PD) pathologies. Few studies have investigated peripheral inflammation, and none have examined oxidative stress in Dementia with Lewy bodies (DLB). The purpose of our study was to characterize and compare those biomarkers in DLB with those in AD and amnestic mild cognitive impairment (aMCI).

3D printed Aloe barbadensis loaded alginate-gelatin hydrogel for wound healing and scar reduction: In vitro and in vivo study.

Wounds are one of the most critical clinical issues in plastic surgery repair and restoration. Conventional wound dressing materials cannot absorb enough wound exudates and shield the site from microbial infection. Also, despite their healing prowess, bioactive molecules from medicinal plants are less bioavailable at the wound sites.

The molecular structure of SHISA5 protein and its novel role in primary biliary cholangitis: From single-cell RNA sequencing to biomarkers.

The study collected liver tissue samples from PBC patients and healthy controls and performed transcriptomic analysis of the cells in the samples using single-cell RNA sequencing. The expression characteristics of SHISA5 in PBC were revealed by comparing the difference of SHISA5 protein in the two groups of samples. The structure of SHISA5 protein was predicted and its possible biological function was analysed by bioinformatics method.

Comparative genomic analysis of Fusarium oxysporum f. sp. lycopersici reveals telomeric duplications of a lineage-specific region carrying SIX8 and PSL1 and genome-wide expansion of Foxy transposable elements.

Fusarium oxysporum f. sp. lycopersici (Fol), the causal agent of tomato wilt disease, is a soil-borne, vascular-colonizing fungal pathogen that severely impacts tomato production in most growing regions worldwide.

The UBR domain of plant Ubr1 homolog PRT6 accommodates basic and hydrophobic amino termini for substrate recognition.

N-degrons are amino-terminal degradation signals. Non-acetylated first residues with bulky side chains were the first discovered N-degrons. In yeast, their ability to destabilize a protein depends on ubiquitin ligase Ubr1, which has a binding site for basic first residues, the UBR box, and one for hydrophobic first residues, the N domain.