Evidence of DNA methylation heterogeneity and epipolymorphism in kidney cancer tissue samples.

Clear cell renal cell carcinoma (ccRCC) is characterised by significant genetic heterogeneity, which has diagnostic and prognostic implications. Very limited evidence is available regarding DNA methylation heterogeneity. We therefore generate sequence level DNA methylation data on 136 multi-region tumour and normal kidney tissue from 18 ccRCC patients, along with matched whole exome sequencing (85 samples) and gene expression (47 samples) data on a subset of samples.

Disease characteristics and outcomes of acute myeloid leukemia in germline deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM, FPD/AML, -FPD), caused by monoallelic deleterious germline variants, is characterized by bleeding diathesis and predisposition for hematologic malignancies, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Clinical data on FPDMM-associated AML (FPDMM-AML) are limited, complicating evidence-based clinical decision-making. Here, we present retrospective genetic and clinical data of the largest cohort of FPDMM patients reported to date.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

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.

The Causal Effects of Lifestyle Factors on Osteoarthritis: A Two-sample Mendelian Randomisation Study.

Background: Modern sedentary lifestyles are prevalent among individuals with osteoarthritis. However, direct evidence linking such behaviours as causative factors of osteoarthritis remain limited due to the presence of confounding variables.

Objective: This study aims to determine the extent to which lifestyle factors have causal effects on osteoarthritis through a two-sample Mendelian randomisation (MR) study.

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.

regulates melanocortin 4 receptor transcription and energy homeostasis.

Disruption of hypothalamic melanocortin 4 receptors (MC4Rs) causes obesity in mice and humans. Here, we investigated the transcriptional regulation of in the hypothalamus. In mice, we show that the homeodomain transcription factor Orthopedia (OTP) is enriched in MC4R neurons in the paraventricular nucleus (PVN) of the hypothalamus and directly regulates transcription.

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.

AI-assisted detection for chest X-rays (AID-CXR): a multi-reader multi-case study protocol.

Introduction: A chest X-ray (CXR) is the most common imaging investigation performed worldwide. Advances in machine learning and computer vision technologies have led to the development of several artificial intelligence (AI) tools to detect abnormalities on CXRs, which may expand diagnostic support to a wider field of health professionals. There is a paucity of evidence on the impact of AI algorithms in assisting healthcare professionals (other than radiologists) who regularly review CXR images in their daily practice.

Revisiting the oxygen reactivity index in traumatic brain injury: the complementary value of combined focal and global autoregulation monitoring.

Background: The oxygen reactivity index (ORx) reflects the correlation between focal brain tissue oxygen (pbtO) and the cerebral perfusion pressure (CPP). Previous, small cohort studies were conflicting on whether ORx conveys cerebral autoregulatory information and if it is related to outcome in traumatic brain injury (TBI). Thus, we aimed to investigate these issues in a larger TBI cohort.

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.

A systematic review of diffusion tensor imaging and tractography in dementia with Lewy bodies and Parkinson's disease dementia.

We reviewed studies using diffusion tensor imaging (DTI) and tractography to characterise white matter changes in Dementia with Lewy Bodies (DLB) and Parkinson's Disease Dementia (PDD). The search included MEDLINE and EMBASE, and we used a narrative strategy to synthesise the evidence. Data was extracted from 57 studies, of which the majority were considered 'good quality'.

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.

Defining the typical characteristics of orthostatic headache in patients with spontaneous intracranial hypotension.

Background: Orthostatic headache (OH) is a common feature of various conditions, including spontaneous intracranial hypotension (SIH), but no precise definition currently exists outlining the typical OH characteristics. This ambiguity risks misdiagnosis with unnecessary investigations and delay in institution of treatment. The present study aimed to carry out structured phenotyping of OH in patients with SIH with the aim of outlining its typical characteristics.

Immune Cell-Based versus Albumin-Based Ratios as Outcome Predictors in Critically Ill COVID-19 Patients.

Purpose: The aim of the retrospective, single-center study was to assess the prognostic value of immune cell-based and albumin-based ratios regarding lethal outcome in critically ill COVID-19 patients.

Patients And Methods: We analyzed 612 adult critically ill COVID-19 patients admitted to the intensive care unit (ICU) between April 2020 and November 2022. Blood measurement on admission to the ICU encompassed complete blood count (CBC), IL-6, C-reactive protein (CRP), albumin, lactate, lactate dehydrogenase (LDH), serum bicarbonate, arterial base deficit/excess (BD/E), and D-dimer.

Secondary insults prevalence, co-occurrence and relationship with outcome after severe TBI.

Introduction: Secondary insults due to high intracranial pressure (ICP), low cerebral perfusion pressure (CPP) and impaired cerebral pressure reactivity (PRx) predict outcome after severe traumatic brain injury (TBI).

Research Question: What is the prevalence, co-occurrence and prognostic importance of secondary insults due to deranged ICP, CPP or PRx after TBI.

Material And Methods: Severe TBI patients requiring ICP monitoring were included.

Clinical management of female patients with Fabry disease based on expert consensus.

Fabry disease is an X-linked lysosomal storage disorder that causes accumulation of glycosphingolipids in body tissues and fluids, leading to progressive organ damage and life-threatening complications. It can affect both males and females and can be classified into classic or later-onset phenotypes. The disease severity in females ranges from asymptomatic to the more severe, classic phenotype.

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.

The Effects of Gender on Mesenchymal Stromal Cell (MSC) Proliferation and Differentiation In Vitro: A Systematic Review.

Mesenchymal stromal cells (MSCs) have the potential for novel treatments of several musculoskeletal conditions due to their ability to differentiate into several cell lineages including chondrocytes, adipocytes and osteocytes. Researchers are exploring whether this could be utilized for novel therapies for joint afflictions. The role of gender in the ability of MSCs to differentiate and proliferate into different cells has not been clearly defined.

Outcomes of Knee Dislocations and Subluxations in Polytrauma Patients at a Major Trauma Center.

Background This is a retrospective service evaluation of outcomes of polytrauma patients sustaining knee dislocations and subluxations within a major trauma center (MTC). Polytrauma patients with knee dislocations are complex to manage and often sustain multiple life-threatening injuries. Although treatments have progressed, no consensus remains on management timing and strategy.

Early oncological outcomes of delayed radical prostatectomy: A prospective, international, follow-up analysis of the COVIDSurg-Cancer study.

Objectives: The objective of this study is to compare the early oncological outcomes of delayed (>90 days) versus scheduled (≤90 days) radical prostatectomy (RP).

Patients And Methods: Patients with prostate cancer due to undergo surgery between March 2020 and June 2020 who were enrolled in the COVIDSurg-Cancer international, observational study were prospectively followed up for 1 year. Time to surgery was defined as the difference between the operation date and the multi-disciplinary team decision to offer surgery.