Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation.

Background: Diagnosing rare genetic disorders relies on precise phenotypic and genotypic analysis, with the Human Phenotype Ontology (HPO) providing a standardized language for capturing clinical phenotypes. Traditional HPO tools, such as Doc2HPO and ClinPhen, employ concept recognition to automate phenotype extraction but struggle with incomplete phenotype assignment, often requiring intensive manual review. While large language models (LLMs) hold promise for more context-driven phenotype extraction, they are prone to errors and "hallucinations," making them less reliable without further refinement.

Comparison of predicted and actual dermatitis generated from computed tomography images and dose distribution maps.

Anticipating the onset, location and severity of radiation dermatitis before radiotherapy can aid in dermatological care. This study developed a method for creation of a prediction diagram for dermatitis and conducted a comparative verification between the prediction diagram and actual patient condition. The prediction diagram involved converting skin doses into 2 Gy fractionated equivalent doses using α/β of 10.

Efficacy of Probiotics Regimens for Helicobacter Pylori Eradication: A Systematic Review, Pairwise, and Network Meta-Analysis of Randomized Controlled Trials.

Background: Helicobacter pylori (H. pylori) infection increases the risks of chronic gastritis, peptic ulcer diseases, and the incidence of gastric cancer. However, antibiotic resistance and adverse effects led to the emergence of alternative treatments such as probiotics supplementation.

Association of circulating ketone bodies with cognitive performance and dementia in the Multi-Ethnic Study of Atherosclerosis (MESA).

Introduction: Growing interest centers on the association between circulating ketone bodies (KB) and cognitive function, notably in aging and neurodegenerative diseases.

Methods: Associations of plasma KB with incident dementia and cognitive performances were examined among Multi-Ethnic Study of Atherosclerosis (MESA) participants. KB were measured using plasma samples collected following an overnight fasting at Exam 1 (2000-02) and detailed cognitive testing at Exam 5 (2010-2012,  = 4392), Exam 6 (2016-2018,  = 1838), and in MESA-MIND (2019-2021,  = 2060).

Antibiotic-associated neutropenia is marked by the depletion of intestinal and associated metabolites in pediatric patients.

Prolonged antibiotic exposure causes dangerous hematologic side effects, including neutropenia, in up to 34% of patients. Murine studies established a link between the intestinal microbiota and hematopoiesis. To identify factors that predispose to neutropenia in pediatric patients, we evaluated changes in microbiota-derived metabolites and intestinal microbiota composition after prolonged courses of antibiotics.

Updates in pharmacotherapy of obesity.

Obesity is now recognized as a chronic, progressive condition requiring early intervention and long-term management to achieve health benefits and improve metabolic risk factors. The main objective of obesity pharmacotherapy is weight loss and weight loss maintenance. There is increasing acceptance of anti-obesity medications as an adjunct to lifestyle modifications and/or surgery.

Immediate Versus Staged Complete Revascularization for Patients With ST-Segment-Elevation Myocardial Infarction and Multivessel Disease: A Network Meta-Analysis of Randomized Trials.

Background: The comparative outcomes with immediate, staged in-hospital, and staged out-of-hospital complete revascularization for patients with ST-segment-elevation myocardial infarction and multivessel disease remain unclear.

Methods And Results: An electronic search of MEDLINE, SCOPUS, and Cochrane databases was performed through August 2023 for randomized trials evaluating immediate, staged in-hospital, and staged out-of-hospital complete revascularization for patients with ST-segment-elevation myocardial infarction and multivessel disease. The primary outcome was major adverse cardiac events (MACEs).

Love of life and flourishing in Turkish youth: mediating effects of optimism and hope.

The concept of love of life, which refers to a positive attitude towards one's own life, care for it and attachment to it, has recently captured the attention of researchers in the field of positive psychology. Despite its growing importance, there is a lack of research investigating the underlying mechanisms through which love of life impacts the flourishing and well-being of individuals. For the first time, the present study examined the mediating roles of optimism and hope in the association between love of life and flourishing in Turkish youth.

Trends in Transcatheter Versus Surgical Aortic Valve Replacement Outcomes in Patients With Low-Surgical Risk: A Systematic Review and Meta-Analysis of Randomized Trials.

Background: Limited data exist on long-term outcomes after transcatheter aortic valve replacement (TAVR) and surgical aortic valve replacement (SAVR). This meta-analysis aims to elucidate outcome trends following TAVR versus SAVR in patients with severe aortic stenosis and low-surgical risk.

Methods And Results: A systematic search was conducted in PubMed, Embase, Scopus, and the Cochrane Library databases from inception until May 2024, to identify studies comparing TAVR versus SAVR in patients with low-surgical risk (Society of Thoracic Surgeons predicted risk of mortality score <4%).

Mutant NPM1 marginally impacts ribosome footprint in acute myeloid leukemia cells.

Background: -mutated acute myeloid leukemia (AML) is the most frequent AML subtype. As wild-type NPM1 is known to orchestrate ribosome biogenesis, it has been hypothesized that altered translation may contribute to leukemogenesis and leukemia maintenance in -mutated AML. However, this hypothesis has never been investigated.

Birth outcomes following bictegravir exposure during pregnancy.

Objective: Bictegravir is increasingly prescribed as a co-formulated tablet with tenofovir alafenamide and emtricitabine to pregnant persons with HIV (PWH) despite limited pregnancy and birth outcome data. We sought to provide birth outcome data following exposure to bictegravir during pregnancy.

Design: We conducted a descriptive analysis of infants born to pregnant PWH 18-45 years of age enrolled in at least one Pediatric HIV/AIDS Cohort Study (PHACS)-affiliated study who received bictegravir for ≥7 days during pregnancy and completed follow-up through delivery.

Metagenomic Study of the MESA: Detection of and Association With Coronary Heart Disease.

Background: Inflammation is a feature of coronary heart disease (CHD), but the role of proinflammatory microbial infection in CHD remains understudied.

Methods And Results: CHD was defined in the MESA (Multi-Ethnic Study of Atherosclerosis) as myocardial infarction (251 participants), resuscitated arrest (2 participants), and CHD death (80 participants). We analyzed sequencing reads from 4421 MESA participants in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program using the PathSeq workflow of the Genome Analysis Tool Kit and a 65-gigabase microbial reference.

Concurrent HBsAg and anti-HBs induced by a preS deletion mutant in a chronic hepatitis B patient.

This study analyzed the origins of concurrent hepatitis B surface antigen (HBsAg) and HBsAg antibodies (anti-HBs) in a patient with chronic hepatitis B virus (HBV) infection. The levels of serological markers of HBV infection were determined by enzyme-linked immunosorbent assay (ELISA). The preS/S gene was analyzed by gene amplification and sequencing.

Repeat Exchange Autologous Cranioplasty for Recurrent Benign Osteoma: Meta-analysis and Literature Review.

Osteomas are benign bony lesions that can occur throughout the craniofacial skeleton. Surgical excision can be an effective treatment, as recurrence is relatively uncommon. Outside of incomplete resection, causes of recurrence are poorly documented, especially in the pediatric population.

Relationship between epicardial adipose tissue and coronary atherosclerosis by CCTA in young adults (18-45).

Objective: Epicardial adipose tissue (EAT) is implicated in the pathogenesis and progression of coronary artery disease (CAD). Limited data exists on the interplay between EAT and atherosclerosis in young individuals. Our study aims to explore the relationship between EAT and CAD in a young cohort.

Pediatric colonic adenocarcinoma: A deceptive case of gastroenteritis and constipation.

Adenocarcinoma of the colon is a rare diagnosis in pediatric patients. We present a previously healthy 15-year-old female who began experiencing escalating colicky abdominal pain and associated vomiting over 2 weeks in the setting of presumed acute gastroenteritis. A computed tomography scan revealed an obstruction in her descending colon.

Pre-clinical protective potentials of constituents in experimentally induced anemia.

Objective: Anemia is a pathological condition characterized by reduced oxygen bioavailability and/or changes in hematological parameters. This study investigated the anti-anemic activities of (CP) phytoconstituents in aluminium-chloride-induced anemic rats.

Method: Twenty-seven rats were randomized into nine groups of three rats as follows; group 1 was the normal (non-induced) group, 2-9 were anemic rats administered 1 mL distilled water, standard drug (3 mg/kg body weight (bw) ferrous sulphate), 100, 300 and 500 mg/kg bw of crude methanolic extract of CP (CMECP) of the leaf and 100, 300 and 500 mg/kg bw of CMECP of the seed respectively in the first stage of the study.

Post-trial responsibilities in pragmatic clinical trials: Fulfilling the promise of research to drive real-world change.

While considerable scholarship has explored responsibilities owed to research participants at the conclusion of explanatory clinical trials, no guidance exists regarding responsibilities owed at the conclusion of a pragmatic clinical trial (PCT). Yet post-trial responsibilities in PCTs present distinct considerations from those emphasized in existing guidance and prior scholarship. Among these considerations include the responsibilities of the healthcare delivery systems in which PCTs are embedded, and decisions about implementation for interventions that demonstrate meaningful benefit following their integration into usual care settings-or deimplementation for those that fail to do so.

Validation of a Novel Mobile Application for Assessing Pediatric Tracheostomy Emergency Simulations.

Objective: Pediatric tracheostomy is associated with high morbidity and mortality, yet clinician knowledge and quality of tracheostomy care may vary widely. In situ simulation is effective at detecting and mitigating related latent safety threats, but evaluation via retrospective video review has disadvantages (eg, delayed analysis, and potential data loss). We evaluated whether a novel mobile application is accurate and reliable for assessment of in situ tracheostomy emergency simulations.