How I diagnose and treat systemic mastocytosis with an associated hematologic neoplasm.

Over the last decade significant advances have been made by honing in on the diagnostic evaluation and the significance of molecular profiles in patients with systemic mastocytosis (SM), non-advanced and advanced.This is reflected in the 2022 iterations of the World Health Organization Edition 5 and International Consensus Criteria classifications.The impact of targeted KIT inhibitor therapies on patients treated within global trials has demonstrated significant improvements in the prognosis and overall survival for patients, leading to a change the treatment paradigm.

The burden of Alagille syndrome: uncovering the potential of emerging therapeutics - a comprehensive systematic literature review.

Alagille syndrome (ALGS) is a rare, cholestatic multiorgan disease associated with bile duct paucity, leading to cholestasis. Clinical symptoms of cholestasis include debilitating pruritus, xanthomas, fat-soluble vitamin deficiencies, growth failure, renal disease and impaired health-related quality of life (HRQoL). The main objective was to review the current literature on the epidemiological, clinical, psychosocial and economic burden of ALGS in view of the development of ileal bile acid transporter (IBAT) inhibitors.

Clinicians' perspectives on the use of artificial intelligence to triage MRI brain scans.

Artificial intelligence (AI) tools can triage radiology scans to streamline the patient pathway and also relieve clinician workload. Validated AI tools can mitigate the delays in reporting scans by flagging time-sensitive and actionable findings. In this study, we aim to investigate current stakeholder perspectives and identify obstacles to integrating AI in clinical pathways.

Real-World Evaluation of i-gel Introduction on Intraoperative Airway-Related Safety Events: A Retrospective Cohort Study From a New England Hospital Network.

Background: Several health care networks have fully adopted second-generation supraglottic airway (SGA) i-gel. Real-world evidence of enhanced patient safety after such practice change is lacking. We hypothesized that the implementation of i-gel compared to the previous LMA®-Unique™ would be associated with a lower risk of airway-related safety events.

Low-cost male urogenital simulator for penile implant surgery training: a 3D printing approach.

Background: Penile implant surgery is the standard surgical treatment for end-stage erectile dysfunction. However, the growing complexity of modern high-tech penile prostheses has increased the demand for more practical training opportunities. The most advanced contemporary training methods involve simulation training using cadavers, with costs exceeding $5,000 per cadaver, inclusive of biohazard fees.

Evaluation of Intestinal Permeability Using Serum Biomarkers in Learning Early About Peanut Allergy Trial.

Background: Intestinal barrier dysfunction may lead to a break in tolerance and development of food allergy (FA). There is contradictory evidence on whether intestinal permeability (IP) is altered in IgE-mediated FA. Thus, we sought to determine whether IP differed between children with eczema who did (FA group) or did not (atopic controls, ACs) develop FA and whether peanut sensitization, allergy, and early introduction impacted IP using serum biomarkers zonulin, soluble CD14, and Intestinal Fatty Acid Binding Protein among randomly selected participants enrolled in the Learning Early About Peanut allergy trial.

An Overview of Patient-reported Outcomes for Men with Prostate Cancer: Results from the PIONEER Consortium.

Background And Objective: Patient-reported outcome measures (PROMs) are increasingly being used to capture the patients' perspective of their functional status and quality of life (QoL). Big data can help us better understand patient-reported outcomes (PROs). Using prospectively collected data from the Prostate Cancer Diagnosis and Treatment Enhancement Through the Power of Big Data in Europe (PIONEER) consortium, we aimed to describe the functional status and QoL in men with prostate cancer (PCa) treated with active surveillance (AS), radical prostatectomy (RP), and radiotherapy (RT), and to demonstrate the applicability of PROM data on a large scale and at a European level.

Conquering Overtreatment of DCIS: Lessons from PRECISION.

As we cannot reliably distinguish indolent, low-risk ductal carcinoma in situ (DCIS) from potentially progressive, high-risk DCIS, all women with DCIS diagnosis undergo intensive treatment without any benefit. The PREvent ductal Carcinoma In Situ Invasive Overtreatment Now team was established to unravel DCIS biology and develop new multidisciplinary approaches for accurate risk stratification to tackle the global problem of DCIS overdiagnosis and overtreatment. See related article by Bressan et al.

Symptom Evolution in Individuals with Ongoing Symptomatic COVID-19 and Post COVID-19 Syndrome After SARS-CoV-2 Vaccination Versus Influenza Vaccination.

Background: COVID-19 symptoms may persist beyond acute SARS-CoV-2 infection, as ongoing symptomatic COVID-19 [OSC] (symptom duration 4-12 weeks) and post-COVID syndrome [PCS] (symptom duration ≥12 weeks). Vaccination against SARS-CoV-2 decreases OSC/PCS in individuals subsequently infected with SARS-CoV-2 post-vaccination. Whether vaccination against SARS-CoV-2, or any other vaccinations (such as against influenza) affects symptoms in individuals already experiencing OSC/PCS, more than natural symptom evolution, is unknown.

Whole examination AI estimation of fetal biometrics from 20-week ultrasound scans.

The current approach to fetal anomaly screening is based on biometric measurements derived from individually selected ultrasound images. In this paper, we introduce a paradigm shift that attains human-level performance in biometric measurement by aggregating automatically extracted biometrics from every frame across an entire scan, with no need for operator intervention. We use a neural network to classify each frame of an ultrasound video recording.

Evaluation of a context-aware chatbot using retrieval-augmented generation for answering clinical questions on medication-related osteonecrosis of the jaw.

The potential of large language models (LLMs) in medical applications is significant, and Retrieval-augmented generation (RAG) can address the weaknesses of these models in terms of data transparency and scientific accuracy by incorporating current scientific knowledge into responses. In this study, RAG and GPT-4 by OpenAI were applied to develop GuideGPT, a context aware chatbot integrated with a knowledge database from 449 scientific publications designed to provide answers on the prevention, diagnosis, and treatment of medication-related osteonecrosis of the jaw (MRONJ). A comparison was made with a generic LLM ("PureGPT") across 30 MRONJ-related questions.

Single-cell RNA-seq identifies protracted mouse germline X chromosome reactivation dynamics directed by a PRC2-dependent mechanism.

Female primordial germ cells (PGCs) undergo X chromosome reactivation (XCR) during genome-wide reprogramming. XCR kinetics and dynamics are poorly understood at a molecular level. Here, we apply single-cell RNA sequencing and chromatin profiling on germ cells from F mouse embryos, performing a precise appraisal of XCR spanning from migratory-stage PGCs to gonadal germ cells.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B germline variants have been associated with a variety of developmental syndromes. However, genotype-phenotype correlations along with pathophysiologic mechanisms of selected variants mostly remain elusive.

The Clinical Characteristics and Treatment Outcomes of Mesonephric Tumours of the Uterine Cervix: A Systematic Review and Proposal of Embryologically-Oriented Surgical Resection.

: Cervical mesonephric adenocarcinomas (MNACs) are among the rarest neoplasms of the female genital tract. Unlike the majority of cervical cancers, which are predominantly squamous in origin and strongly associated with HPV seropositivity, MNACs are distinct in both histology and pathophysiology. Despite their unique characteristics, MNACs have historically been managed in parallel with squamous cell carcinomas, resulting in a lack of optimised, evidence-based treatment protocols.

Absorbable Powder Haemostat Use in Minimally Invasive Thoracic Surgery.

: Significant intraoperative and postoperative blood loss are rare but possibly life-threatening complications after lung resection surgery either during open or minimally invasive procedures. Microporous Polysaccharide Haemospheres (ARISTA™AH) have demonstrated time-efficient haemostasis, lower postoperative blood volumes and a lower blood transfusion requirement, without any identified adverse events across other specialities. The primary aim of our study was to evaluate the impact of ARISTA™AH on short-term postoperative outcomes in thoracic surgery.

Recent Advances and Future Directions in Extracorporeal Carbon Dioxide Removal.

Extracorporeal carbon dioxide removal (ECCOR) is an emerging technique designed to reduce carbon dioxide (CO) levels in venous blood while enabling lung-protective ventilation or alleviating the work of breathing. Unlike high-flow extracorporeal membrane oxygenation (ECMO), ECCOR operates at lower blood flows (0.4-1.

Challenging the Binary Classification of Endometrioid Endometrial Adenocarcinoma: The Evaluation of Grade 2 as an Independent Entity Based on Prognostic Characteristics and Recurrence Patterns.

Although grade is a well-recognised prognostic factor for endometrioid endometrial cancer (EEC), in more studies grade 1 (G1) and grade 2 (G2) EEC are combined and compared together with grade 3 (G3) tumours. The aim of our study is to separately investigate the outcomes, prognostic factors and recurrence patterns of G2 EEC and whether the differentiation between G1 and G2 EEC is clinically useful. we retrospectively reviewed 523 patients with EEC treated with primary surgery over a decade (March 2010-January 2020) at Oxford University Hospitals NHS Trust, focusing on those with G2 disease.

Surgical Technique and Perioperative Outcomes of the "Sapienza" Urology Residency Program's Trocar Placement Configuration During Robotic-Assisted Radical Prostatectomy (RARP): A Retrospective, Single-Centre Observational Study Comparing Experienced Attendings vs. Post-Graduate Year I-III Residents as Bedside Assistants.

: Robot-assisted radical prostatectomy (RARP) for the treatment of prostate cancer (PCa) has been standardized over the last 20 years. At our institution, only n = 3 rob arms are used for RARP. In addition, n = 2, 12 mm lap trocars are placed for the bedside assistant symmetrically at the midclavicular lines, which allows for direct pelvic triangulation and greater involvement of the assisting surgeon.