Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.

Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Background: Mitral valve prolapse (MVP) is a common cardiac valvular anomaly that can be caused by mutations in genes of various biological pathways. Individuals of three generations of a kindred presented with apparently dominant heredity of isolated MVP.

Methods: Clinical evaluation and echocardiography for all complying family members (n=13).

The Society of Thoracic Surgeons General Thoracic Surgery Database: 2024 Update on Outcomes and Research.

The Society of Thoracic Surgeons General Thoracic Surgery Database (STS GTSD) remains the largest and most comprehensive audited thoracic surgical database in the world. As the STS GTSD grows to nearly 1 million cases, the pulmonary resection for cancer and esophagectomy short-term risk models have been refined to provide participants with benchmarked performance reports to facilitate quality improvement efforts. New for 2025 will be the development of long-term risk models and the online release of both short- and long-term risk calculators.

Borrelia burgdorferi sensu lato inhibits CIITA transcription through pSTAT3 activation and enhanced SOCS1 and SOCS3 expression leading to limited IFN-γ production.

Interferons (IFNs) are important signaling molecules in the human immune response against micro-organisms. Throughout initial Borrelia burgdorferi sensu lato (B. burgdorferi s.

Association of Year-to-Year Lipid Variability With Risk of Cognitive Decline and Dementia in Community-Dwelling Older Adults.

Background And Objectives: Lipid metabolism in older adults is affected by various factors including biological aging, functional decline, reduced physiologic reserve, and nutrient intake. The dysregulation of lipid metabolism could adversely affect brain health. This study investigated the association between year-to-year intraindividual lipid variability and subsequent risk of cognitive decline and dementia in community-dwelling older adults.

Refractory Psychosis as a Red Flag for End of Life in Individuals With Dementia With Lewy Bodies: A Case Series and Re-analysis of Prior Qualitative Data.

Objectives: Many individuals with dementia with Lewy bodies (DLB) die of disease-related complications, but predicting the end of life can be challenging. We identified a phenotype associated with approaching end of life.

Methods: We present 4 exemplar cases where individuals with DLB experienced refractory psychosis before death.

Combined Klippel-Feil syndrome, Sprengel deformity, and diffuse large B-cell lymphoma: A rare case report.

Klippel-Feil syndrome (KFS) is a rare congenital disorder characterized by the fusion of cervical vertebrae, with a clinical presentation that can vary widely due to genetic and phenotypic diversity. While KFS can occur as an isolated anomaly, it is often associated with other congenital conditions, such as Sprengel deformity, which may present with or without an omovertebral bone, complicating diagnosis and management. This particular case also involves diffuse large B-cell lymphoma (DLBCL), the most common subtype of non-Hodgkin lymphoma.

The impact of preoperative venous thromboembolism on patients undergoing TURBT: Perioperative outcomes and healthcare costs from US insurance claims data.

Objectives: To assess the impact of a positive history of venous thromboembolism (VTE) on perioperative outcomes, including length of in-hospital stay, readmission rates, 90-day postoperative complications, and healthcare costs in bladder cancer (BCa) patients undergoing transurethral resection of bladder tumour (TURBT) in the United States.

Patients And Methods: Patients aged ≥18 years with a BCa diagnosis undergoing TURBT were identified in the Merative® Marketscan® Research de-identified databases between 2007 and 2021. Multivariable logistic regression adjusted by relevant perioperative confounders was used to investigate the association between diagnosis of VTE before TURBT and 90-day complication rates, new postoperative VTE events, re-hospitalization, and total hospital expenditures (2021 US dollars).

Terminal complement complex deposition on chondrocytes promotes premature senescence in age- and trauma-related osteoarthritis.

Background: The complement system is locally activated after joint injuries and leads to the deposition of the terminal complement complex (TCC). Sublytic TCC deposition is associated with phenotypical alterations of human articular chondrocytes (hAC) and enhanced release of inflammatory cytokines. Chronic inflammation is a known driver of chondrosenescence in osteoarthritis (OA).

Rationale and design of the FAIR-HF2-DZHK05 trial: Ferric carboxymaltose assessment of morbidity and mortality in patients with iron deficiency and chronic heart failure.

Aims: While it is widely accepted that intravenous (IV) iron improves functional capacity, symptoms, and cardiovascular outcomes in patients with heart failure (HF) with reduced ejection fraction (HFrEF) diagnosed with iron deficiency (ID), three recently published cardiovascular outcome trials (AFFIRM-AHF, IRONMAN and HEART-FID) of IV iron supplementation in HF failed to demonstrate a significant benefit on their respective primary endpoints. Dosing of IV iron after the initial correction of baseline ID - by design or as a result of trial circumstances - was relatively low (i.e.

Spectrum of Otological Manifestations in Treacher Collins Syndrome: A Case Series of 9 Patients.

Treacher Collins syndrome (TCS) is an uncommon congenital disorder predominantly involving craniofacial, orbital, and otological structures. The various ear malformations seen in 9 patients with TCS are described. TCS predominantly affects the external and middle ear structures, with inner ear structures being relatively spared, not unexpected given the dual embryological origin of the human ear.

Dynamic Contrast-enhanced MRI Processing Comparison for Distinguishing True Progression From Pseudoprogression in High-grade Glioma.

Background: Treatment-related changes may occur due to radiation and temozolomide in glioblastoma and can mimic tumor progression on conventional MRI. DCE-MRI enables quantification of the extent of blood-brain barrier (BBB) disruption, providing information about areas of suspicious postcontrast T1 enhancement. We compared DCE-MRI processing methods for distinguishing true disease progression from pseudoprogression in high-grade gliomas (HGGs).

Free-breathing multi-parametric SASHA (mSASHA) mapping provides reliable non-contrast myocardial characterization in a pediatric and adult congenital population.

Parametric mapping has become a standard of care technique for the non-invasive assessment of myocardial edema and fibrosis. Conventional MOLLI-based T1 mapping is susceptible to many confounding effects particularly in the pediatric population. The requirement for compliant breath holds is a major limitation for younger or more ill patients.

Instagram Engagement Helps Increase Residency Applicant Interest in Orthopaedic Surgery.

Introduction: This study aims to evaluate whether Instagram engagement data affect residency application volumes for orthopaedic surgery residency programs and rank the top 50 Instagram accounts associated with programs based on engagement.

Methods: Data from January 1, 2020 to June 30, 2023 were collected in August 2023 for Instagram metrics through Popsters social media analytic tool for business accounts and manually for nonbusiness accounts, as well as applicant numbers through the Association of American Medical College (AAMC) Residency Explorer Tool. Top 50 rankings were created from 2020 to 2022 based on engagement score, number of applicants, and growth in application numbers.

Case 337.

A 38-year-old previously healthy male patient presented with left-sided facial pain over the prior 5 weeks. He first noticed the pain while washing and applying pressure to his face. The pain was described as shock-like, sharp and shooting, and radiating along the left cheek and temple.

Environment scan of generative AI infrastructure for clinical and translational science.

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 institutions supported by the CTSA Program led by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) at the United States. Key findings indicate a diverse range of institutional strategies, with most organizations in the experimental phase of GenAI deployment. The results underscore the need for a more coordinated approach to GenAI governance, emphasizing collaboration among senior leaders, clinicians, information technology staff, and researchers.

The ABC transporter A7 modulates neuroinflammation via NLRP3 inflammasome in Alzheimer's disease mice.

Background: Specific genetic variants in the ATP-binding cassette transporter A7 locus (ABCA7) are associated with an increased risk of Alzheimer's disease (AD). ABCA7 transports lipids from/across cell membranes, regulates Aβ peptide processing and clearance, and modulates microglial and T-cell functions to maintain immune homeostasis in the brain. During AD pathogenesis, neuroinflammation is one of the key mechanisms involved.

International myeloma working group immunotherapy committee recommendation on sequencing immunotherapy for treatment of multiple myeloma.

T-cell redirecting therapy (TCRT), specifically chimeric antigen receptor T-cell therapy (CAR T-cells) and bispecific T-cell engagers (TCEs) represent a remarkable advance in the treatment of multiple myeloma (MM). There are several products available around the world and several more in development targeting primarily B-cell maturation antigen (BCMA) and G protein-coupled receptor class C group 5 member D (GRPC5D). The relatively rapid availability of multiple immunotherapies brings the necessity to understand how a certain agent may affect the safety and efficacy of a subsequent immunotherapy so MM physicians and patients can aim at optimal sequential use of these therapies.

A compendium of Amplification-Related Gain Of Sensitivity genes in human cancer.

While the effect of amplification-induced oncogene expression in cancer is known, the impact of copy-number gains on "bystander" genes is less understood. We create a comprehensive map of dosage compensation in cancer by integrating expression and copy number profiles from over 8000 tumors in The Cancer Genome Atlas and cell lines from the Cancer Cell Line Encyclopedia. Additionally, we analyze 17 cancer open reading frame screens to identify genes toxic to cancer cells when overexpressed.

Rosacea-like skin reaction under treatment with dupilumab for atopic dermatitis.

Purpose: Dupilumab is a widely recommended treatment for moderate-to-severe atopic dermatitis (AD), with known ocular side effects but less frequent cutaneous reactions.

Material And Methods: This case report details a 52-year-old female patient with atopic dermatitis treated with dupilumab. After an initially successful treatment, the patient developed a rosacea-like dermatitis.

Impact of Immunotherapy on the Care Patterns and Outcomes of Patients with Advanced Hepatocellular Carcinoma.

Background: Modern immunotherapy with checkpoint inhibitors revolutionized cancer treatment and outcomes. This study aims to demonstrate how immunotherapy has impacted the national landscape of systemic treatment and palliative care in advanced hepatocellular carcinoma (HCC).

Methods: Retrospective cohort selecting patients from the U.

Endovascular Thrombectomy for Extracranial Internal Carotid Artery Occlusions With Large Ischemic Strokes: Insights From the SELECT2 Trial.

Background And Objectives: Although previous trials have established the efficacy and safety of endovascular thrombectomy (EVT) in large ischemic core strokes, most of them excluded patients with extracranial internal carotid artery (e-ICA) occlusion. We aimed to compare outcomes in patients with e-ICA occlusion and large ischemic core infarcts treated with EVT vs medical management (MM).

Methods: This was a secondary analysis of the SELECT2 trial, a randomized controlled trial conducted at 31 international sites.

How can we make sound replication decisions?

Replication and the reported crises impacting many fields of research have become a focal point for the sciences. This has led to reforms in publishing, methodological design and reporting, and increased numbers of experimental replications coordinated across many laboratories. While replication is rightly considered an indispensable tool of science, financial resources and researchers' time are quite limited.