Advanced paranasal sinuses osteomas: a retrospective multicentric analysis on surgical management outcomes and intra- and postsurgical complications.

Background: This study examines the management and outcomes of large paranasal sinus osteomas (PSO), especially those abutting or encasing critical structures of the skull base and orbit.

Methodology: A multicentric retrospective analysis was conducted between June 2007 and September 2023. The study included surgically treated (regardless the type of approach chosen) PSO, exceeding 3 cm in diameter and/or located in critical anatomical areas.

Normothermic regional and ex-situ perfusion reduces Postreperfusion syndrome in donation after circulatory death liver transplantation: a retrospective comparative study.

In controlled donation after circulatory death (DCD) liver transplantation, ischemia-reperfusion injury is linked to post-reperfusion syndrome (PRS), acute kidney injury (AKI), and early allograft dysfunction (EAD). Normothermic regional perfusion (NRP) and normothermic machine perfusion (NMP) are techniques that mitigate ischemic injury and associated complications. In this single centre retrospective study, we compared early transplant outcomes of DCD livers undergoing direct procurement (DP) and static cold storage (DCD-DP-SCS), NRP procurement with SCS (DCD-NRP-SCS), or DP with NMP (DCD-DP-NMP).

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

Somatic CAG repeat expansion in blood associates with biomarkers of neurodegeneration in Huntington's disease decades before clinical motor diagnosis.

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease with the age at which characteristic symptoms manifest strongly influenced by inherited HTT CAG length. Somatic CAG expansion occurs throughout life and understanding the impact of somatic expansion on neurodegeneration is key to developing therapeutic targets. In 57 HD gene expanded (HDGE) individuals, ~23 years before their predicted clinical motor diagnosis, no significant decline in clinical, cognitive or neuropsychiatric function was observed over 4.

Oxidised Apolipoprotein Peptidome Characterises Metabolic Dysfunction-Associated Steatotic Liver Disease.

Background: Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) encompasses a spectrum of histological conditions ranging from simple steatosis to fibrosing steatohepatitis, and is a risk factor for cardiovascular diseases (CVD). While oxidised apolipoproteins A and B have been linked to obesity and CVD, the association between other oxidised apolipoproteins and MASLD is yet to be established. To fill this gap, we characterised the circulating serum peptidome of patients with MASLD.

Exploring the Needs of Young People Born With Cleft Lip and/or Palate Approaching End of Routine Care, in the UK.

Objective: The aim of this study was to understand the needs of young people, aged 16 to 20 years, born with cleft lip and/or palate (CL/P) approaching end of routine care, in the United Kingdom (UK).

Design: Nominal group technique was used during 2 online focus groups to identify priorities for cleft care at transition to adult care. Focus group discussions were recorded, transcribed, and analyzed using reflexive thematic analysis.

Anterior Cruciate Ligament Injuries: A Review of Quality and Reliability of Online Information.

Aim This study aims to evaluate the reliability and quality of online information on anterior cruciate ligament (ACL) injuries. Methods An internet search on the three top search engines, Google, Yahoo!, and Bing, was done using the keywords "anterior cruciate ligament injury". The search was carried out in June 2023, and 39 websites were selected.

Unresolved Complete Heart Block in a Patient Treated for Euthyroid Graves' Disease: A Diagnostic Dilemma.

The cardiovascular implications of thyroid disease have been recognized as one of the most characteristic signs that result from the effect of thyroid hormone (TH). Both hyperthyroidism and hypothyroidism produce changes in cardiac contractility, myocardial oxygen consumption, cardiac output, blood pressure, and systemic vascular resistance. The bradyarrhythmias, including atrioventricular block and sick sinus syndrome, are exceedingly rare in hyperthyroidism.

Advanced Restriction Imaging and Reconstruction Technology for Prostate Magnetic Resonance Imaging (ART-Pro): A Study Protocol for a Multicenter, Multinational Trial Evaluating Biparametric Magnetic Resonance Imaging and Advanced, Quantitative Diffusion Magnetic Resonance Imaging for the Detection of Prostate Cancer.

Multiparametric magnetic resonance imaging (mpMRI) is strongly recommended by current clinical guidelines for improved detection of clinically significant prostate cancer (csPCa). However, the major limitations are the need for intravenous (IV) contrast and dependence on reader expertise. Efforts to address these issues include use of biparametric magnetic resonance imaging (bpMRI) and advanced, quantitative magnetic resonance imaging (MRI) techniques.

The role of genetic sequencing in the diagnostic work-up for chronic immune thrombocytopenia.

Immune Thrombocytopenia (ITP) is a heterogenous autoimmune disorder diagnosed by excluding other conditions. Misdiagnosis of primary ITP occurs in patients with inherited thrombocytopenia and primary immunodeficiency syndromes. This study investigates whether genetic testing for inherited thrombocytopenia or primary immunodeficiency can enhance diagnostic accuracy in ITP, and guide treatment strategies.

Association between forced expiratory volume in 1 s and relapse-free survival in operable non-small cell lung cancer: a prospective cohort study with propensity score overlap weighting.

Objectives: Investigate the correlation between the percentage of predicted forced expiratory volume in 1 s (FEV1%pred) and survival outcomes, namely relapse-free survival (RFS) and overall survival (OS), in patients diagnosed with operable early-stage non-small cell lung cancer (NSCLC).

Design: Prospective observational study.

Setting: Clinical settings in Xiangya Hospital, Central South University, Hunan, China.

Resolution of hypogammaglobulinemia-associated recurrent bacteraemia after hematopoietic cell transplantation (HCT).

Primary or secondary hypogammaglobulinemia is associated with persistent norovirus and infections despite immunoglobulin replacement therapy. Allogeneic hematopoietic cell transplantation for hematologic indications can lead to immune reconstitution by correcting a previously undiagnosed concurrent primary immunodeficiency.

Impaired semantic control in the logopenic variant of primary progressive aphasia.

We investigated semantic cognition in the logopenic variant of primary progressive aphasia, including (i) the status of verbal and non-verbal semantic performance; and (ii) whether the semantic deficit reflects impaired semantic control. Our hypothesis that individuals with logopenic variant of primary progressive aphasia would exhibit semantic control impairments was motivated by the anatomical overlap between the temporoparietal atrophy typically associated with logopenic variant of primary progressive aphasia and lesions associated with post-stroke semantic aphasia and Wernicke's aphasia, which cause heteromodal semantic control impairments. We addressed the presence, type (semantic representation and semantic control; verbal and non-verbal), and progression of semantic deficits in logopenic variant of primary progressive aphasia.

Real-world analysis of acamprosate use in patients with cirrhosis and alcohol-associated hepatitis.

Objective: Preventing return to alcohol is of critical importance for patients with alcohol-related cirrhosis and/or alcohol-associated hepatitis. Acamprosate is a widely used treatment for alcohol use disorder (AUD). We assessed the impact of acamprosate prescription in patients with advanced liver disease on abstinence rates and clinical outcomes.

3D Scanning of Surgical Specimens to Improve Communication Between Surgeon and Pathologist: A Head and Neck Pilot Study.

Successful surgical outcomes in head and neck cancer depend on the accurate identification of resection margins. Effective communication between surgeons and pathologists is critical, but is often jeopardised by challenges in sampling and orienting anatomically complex specimens. This pilot study aims to evaluate the use of 3D scanning of surgical specimens as a tool to improve communication and optimise the pathology sampling process.

The Role of Empiric Antifungal Therapy in Patients With Perforated Peptic Ulcer: An Updated Systematic Review and Meta-Analysis.

Fungal growth is common in intraoperative cultures of patients with perforated peptic ulcer (PPU) leading to the common use of empiric antifungal therapy, with current evidence not clearly supporting this practice. The goal of this updated systematic review and meta-analysis was to synthesize the effect of empiric antifungals in patients with PPU. Eligible studies were identified through a comprehensive literature search in the MEDLINE (PubMed) and EMBASE databases, following the PRISMA 2020 statement.

Systematic review of integrated mental and physical health services for children and young people with eating and functional symptoms.

Background: Evidence suggests that by recognising the psychosocial component of illness as equally important to the biological components, care becomes more holistic, and patients can benefit. Providing this type of care requires collaboration among health professionals, rather than working in isolation, to achieve better outcomes. However, there is a lack of evidence about the implementation of integrated health care.

The Open Anatomy Explorer - a journey towards accessible open-source 3D learning environments.

Anatomy learning has traditionally relied on drawings, plastic models, and cadaver dissections/prosections to help students understand the three-dimensional (3D) relationships within the human body. However, the landscape of anatomy education has been transformed with the introduction of digital media. In this light, the Open Anatomy Explorer (OPANEX) was developed.

Association of radiation-induced normal tissue toxicity with a high genetic risk for rheumatoid arthritis.

Purpose: Overlapping genes are involved with rheumatoid arthritis (RA) and DNA repair pathways. Therefore, we hypothesised that patients with a high polygenic risk score (PRS) for RA will have an increased risk of radiotherapy (RT) toxicity given the involvement of DNA repair.

Methods: Primary analysis was performed on 1494 prostate cancer, 483 lung cancer and 1820 breast cancer patients assessed for development of RT toxicity in the REQUITE study.

Refractory fungal infection: Three case reports highlighting good practice.

Refractory invasive fungal disease is a significant clinical problem, with high morbidity, mortality and costs. The complex causes of refractory infection include breakthrough infection due to antifungal resistance (both innate and acquired), suboptimal therapy and impaired immune responses in critically ill or immunocompromised patients. This case series details three reports on the identification and management of refractory fungal infections, two cases of azole resistance and one case of resistant candidiasis, highlighting the importance of accurate diagnosis, monitoring, implementation of biomarkers (serological markers, PCR), antifungal susceptibility testing and antifungal stewardship to optimise management and minimise risks of emergence of drug resistance.

Taking a step back: Parents' experiences of the decision-making process for elective orthognathic surgery in cleft lip and palate (IPA).

Objective: This study explored parents' experiences of the transition of responsibility to their child for healthcare decisions relating to their cleft lip and/or palate (CL/P).

Methods: Online semi-structured interviews were conducted with 11 participants (six females and five males, aged 41 to 60 years). They were parents of young people who had decided whether to undergo orthognathic surgery.

A multi-centre UK-based survey on angioedema secondary to acquired C1 inhibitor deficiency.

Background: Acquired angioedema due to C1-inhibitor deficiency (AAE-C1-INH) is very rare compared to its prototype, hereditary angioedema. An updated characterisation of the AAE-C1-INH cohort in UK is required to inform management.

Objectives: To describe the disease burden of AAE-C1-INH, long-term prophylaxis (LTP) and the clinical, immunochemical and treatment profiles of AAE-associated diseases in UK.