An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.

Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in the second decade of life and are a leading cause of death in individuals with A-T.

Interleukin-1β Drives Disease Progression in Arrhythmogenic Cardiomyopathy.

Arrhythmogenic cardiomyopathy (ACM) is a genetic form of heart failure that affects 1 in 5000 people globally and is caused by mutations in cardiac desmosomal proteins including , and Individuals with ACM suffer from ventricular arrhythmias, sudden cardiac death, and heart failure. There are few effective treatments and heart transplantation remains the best option for many affected individuals. Here we performed single nucleus RNA sequencing (snRNAseq) and spatial transcriptomics on myocardial samples from patients with ACM and control donors.

Inflammatory discoveries two years after acute severe COVID-19: a longitudinal biomarker profile assessment in long COVID individuals in the Brazilian Amazon.

Background: In SARS-CoV-2 infection, cytokines and laboratory biomarkers play a key role in disease progression and their long-term levels have been associated with the outcome of long COVID-19.

Objectives: I) study the levels of cytokines, hematological and biochemical biomarkers in the acute and post-acute phases of COVID-19 disease; and II) assess the impact of COVID-19 vaccine doses on fatigue symptoms.

Methods: This study is an exploratory cohort nested within a clinical and laboratory follow-up of surviving participants after pre-vaccine acute COVID-19 infection with severe clinical manifestations.

Thoracic Aorta Measurement Extraction from Computed Tomography Radiology Reports Using Instruction Tuned Large Language Models.

Chest computed tomography (CT) is essential for diagnosing and monitoring thoracic aortic dilations and aneurysms, conditions that place patients at risk of complications such as aortic dissection and rupture. However, aortic measurements in chest CT radiology reports are often embedded in free-text formats, limiting their accessibility for clinical care, quality improvement and research purposes. In this study, we developed a multi-method pipeline to extract structured aortic measurements from radiology reports, and compared the performance of fine-tuned BERT-based models with instruction-tuned Llama large language models (LLMs).

Exploring Cognitive and Neuroimaging Profiles of Dementia Subtypes of Individuals with Dementia in the Democratic Republic of Congo.

Objective: The 2024 Alzheimer's Association (AA) research diagnostic criteria for Alzheimer's Disease (AD) considers fluid biomarkers, including promising blood-based biomarkers for detecting AD. This study aims to identify dementia subtypes and their cognitive and neuroimaging profiles in older adults with dementia in the Democratic Republic of Congo (DRC) using biomarkers and clinical data.

Methods: Forty-five individuals with dementia over 65 years old were evaluated using the Community Screening Instrument for Dementia and the informant-based Alzheimer's Questionnaire.

Polysomnographic titration of non-invasive ventilation in motor neurone disease (3TLA): study protocol for a randomised controlled trial.

Background: Non-invasive ventilation (NIV) uses positive pressure to assist people with respiratory muscle weakness or severe respiratory compromise to breathe. Most people use this treatment during sleep when breathing is most susceptible to instability. The benefits of using NIV in motor neurone disease (MND) are well-established.

Benchmarking Alzheimer's disease prediction: personalised risk assessment using polygenic risk scores across various methodologies and genome-wide studies.

Background: The success of selecting high risk or early-stage Alzheimer's disease individuals for the delivery of clinical trials depends on the design and the appropriate recruitment of participants. Polygenic risk scores (PRS) show potential for identifying individuals at risk for Alzheimer's disease (AD). Our study comprehensively examines AD PRS utility using various methods and models.

Upgrading your best chances: postdiagnosis smoking cessation boosts life expectancy of patients with cancer - a systematic review and meta-analysis.

BackgroundTobacco use is linked to increased cancer risk, and people who smoke represent a large proportion of newly diagnosed patients with cancer. The fact that smoking cessation at the time of diagnosis can improve the patient's life expectancy is still not broadly understood. We conducted a systematic review and meta-analysis to quantify the survival benefits obtainable by quitting smoking on diagnosis.

Is Transforaminal Endoscopic Discectomy the Best Option for Recurrent Lumbar Disc Herniation? A Systematic Review.

Introduction: Recurrent lumbar disc herniation (rLDH) remains a challenge in spinal surgery. This systematic review analyzes the use of transforaminal endoscopic discectomy (TFED) for the treatment of rLDH.

Methods: A comprehensive search of 4 electronic databases, including PubMed, Google Scholar, Science Direct, and Cochrane, was conducted.

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Gyrate atrophy of the choroid and retina (GACR, OMIM #258870) is a rare inherited metabolic disorder characterized by progressive chorioretinal degeneration and hyperornithinemia. Current therapeutic modalities potentially slow disease progression but are not successful in preventing blindness. To allow for trial development, increased knowledge of the clinical phenotype and current therapeutic outcomes is required.

Autonomous International Classification of Diseases Coding Using Pretrained Language Models and Advanced Prompt Learning Techniques: Evaluation of an Automated Analysis System Using Medical Text.

Background: Machine learning models can reduce the burden on doctors by converting medical records into International Classification of Diseases (ICD) codes in real time, thereby enhancing the efficiency of diagnosis and treatment. However, it faces challenges such as small datasets, diverse writing styles, unstructured records, and the need for semimanual preprocessing. Existing approaches, such as naive Bayes, Word2Vec, and convolutional neural networks, have limitations in handling missing values and understanding the context of medical texts, leading to a high error rate.

Assessing the Severity of Connective Tissue-Related Interstitial Lung Disease Using Computed Tomography Quantitative Analysis Parameters.

Objectives: The aims of the study are to predict lung function impairment in patients with connective tissue disease (CTD)-associated interstitial lung disease (ILD) through computed tomography (CT) quantitative analysis parameters based on CT deep learning model and density threshold method and to assess the severity of the disease in patients with CTD-ILD.

Methods: We retrospectively collected chest high-resolution CT images and pulmonary function test results from 105 patients with CTD-ILD between January 2021 and December 2023 (patients staged according to the gender-age-physiology [GAP] system), including 46 males and 59 females, with a median age of 64 years. Additionally, we selected 80 healthy controls (HCs) with matched sex and age, who showed no abnormalities in their chest high-resolution CT.

Update on actinomycetoma treatment: linezolid in the treatment of actinomycetomas due to spp and resistant to conventional treatments.

Introduction: Mycetoma is a chronic granulomatous infection, common throughout tropical regions, and is considered a neglected disease that mostly affects impoverished populations. Mycetoma is divided into eumycetoma, caused by fungi, and actinomycetoma, caused by filamentous bacteria. Clinical presentation is distinctive, and making the diagnosis is usually not difficult; however, access to safe and effective treatments is a major challenge.

Seryl-tRNA synthetase inhibits Wnt signaling and breast cancer progression and metastasis.

Tumors require ample protein synthesis to grow, and aminoacyl-tRNA synthetases, as critical translation factors, are expected to support cancer progression. Unexpectedly, overexpression of seryl-tRNA synthetase (SerRS) suppresses primary tumor growth of breast cancer. However, the effects of SerRS on metastasis have not been studied.

Exploring Visual Outcomes in Late-Presenting Multisuture Craniosynostosis: A Case Report.

A five-year-old female came with a history of frequent rubbing of the right eye and noticed prolonged elevation of her head since birth, informed by her mother. On ocular examination, the best corrected visual acuity shown in the right eye was 1/60, and the left eye was 6/6, with proptosis in both eyes. Fundus examination showed both eyes having pale discs.

Plasmon-Enhanced Fluorescence of Single Extracellular Vesicles Captured in Arrayed Aluminum Nanoholes.

Extracellular vesicles (EVs) are nanoparticles encapsulated with a lipid bilayer, and they constitute an excellent source of biomarkers for multiple diseases. However, the heterogeneity in their molecular compositions constitutes a major challenge for their recognition and profiling, thereby limiting their application as an effective biomarker. A single-EV analysis technique is crucial to both the discovery and the detection of EV subpopulations that carry disease-specific signatures.

Factors Affecting Outcomes of Percutaneous Transluminal Angioplasty for Central Vein Occlusive Disease in the University of the Philippines-Philippine General Hospital: A 10-Year Experience.

Objective: To describe the treatment outcomes of patients who underwent Percutaneous Transluminal Angioplasty (PTA) for Central Vein Occlusive Disease (CVOD) in end-stage kidney disease and determine the association between patient profile and treatment outcomes.

Methods: A single-institution, retrospective review of patients aged 18 and above with end-stage kidney disease who underwent PTA for CVOD in the University of the Philippines - Philippine General Hospital (UP-PGH) from January 1, 2013, to December 31, 2022, was performed. These patients' demographic and clinical profiles were evaluated using means, frequencies, and percentages.

The effects of dance interventions on reducing the risk of falls in older adults: a network meta-analysis.

Objective: The efficacy of dance in reducing fall risks among older adults highlights its potential for geriatric health, but the optimal dance style remains uncertain. The present study endeavors to systematically analyze the effects of various dance forms on reducing the risk of falls among older adult, with the aim of providing evidence-based insights into the most efficacious dance styles for this population.

Design: The network meta-analysis of the existing literature was conducted to synthesize the available evidence regarding the effectiveness of various dance interventions in reducing the risk of falls among older adults.

Laparoscopic Endometriosis Surgery in Patients with Infertility: Identifying Surgical and Non-Surgical Variables Affecting Postoperative Pregnancy. Long-term Follow-up in a University Endometriosis Center.

Background: Endometriosis is a disease which affects the quality of life and fertility of many young women. Choosing the right time for surgery is important for the outcome of patients. We evaluated the surgical variables affecting postoperative pregnancy rates.

Unlocking the Potential: Phytoestrogens and Cardiovascular Health.

Phytoestrogens are plant-derived compounds resembling human estrogen and have recently gained attention due to their potential role in improving cardiovascular health. These compounds exert their effects through various mechanisms, including interactions with estrogen receptors, growth factor receptors, inflammatory mediators, thrombogenic reactions, and apoptotic pathways. This results in cardioprotective effects like modulating endothelial function, decreasing vessel tone, reducing inflammation, altering lipid profiles, and influencing arrhythmogenesis.

A Simple Endoscopic Score for Crohn's Disease (SES-CD) ≥ 7 Predicts Disease Progression.

Background: Up to 30% of patients with Crohn's disease (CD) will experience a mild disease course. However, there is no consensus definition for mild CD.

Aim: To examine the Simple Endoscopic Score for Crohn's disease (SES-CD) thresholds best associated with low likelihood of long-term disease progression.

Health behind bars: obesity and cardiometabolic risk according to different indicators in incarcerated men.

Purpose: This study aims to evaluate the obesity and cardiometabolic disease risks of incarcerated men and to determine the related factors.

Design/methodology/approach: This study was cross-sectional and 139 incarcerated men were included. Data were collected using a questionnaire containing the Descriptive Information Form and the Pittsburgh Sleep Quality Index.

Acromegaly: diagnostic challenges and individualized treatment.

Introduction: Acromegaly is due in almost all cases to a GH-secreting pituitary tumor. GH and IGF-1 excesses lead to its multi-system clinical manifestations and comorbidities. Acromegaly is under-diagnosed and typically presents with advanced disease.