Eating disorders: clinical update.

Variation exists in our attitude and behaviour towards food and exercise, resulting in different degrees of health and ill health. Cultural and economic factors contribute to this, alongside personal choices, leading to a spectrum from normative eating, through disordered eating to the extremes of eating disorders (EDs). Understanding the intricate interplay between biological, psychological, and sociocultural factors to eating, exercise and body image is paramount to understand the current state regarding EDs and to deliver/develop multifaceted and individualised treatments.

Friedreich ataxia: what can we learn from non-GAA repeat mutations?

Friedreich ataxia (FRDA) is a slowly progressive neurological disease resulting from decreased levels of the protein frataxin, a small mitochondrial protein that facilitates the synthesis of iron-sulfur clusters in the mitochondrion. It is caused by GAA (guanine-adenine-adenine) repeat expansions in the gene in 96% of patients, with 4% of patients carrying other mutations (missense, nonsense, deletion) in the gene. Compound heterozygote patients with one expanded GAA allele and a non-GAA repeat mutation can have subtle differences in phenotype from typical FRDA, including, in patients with selected missense mutations, both more severe features and less severe features in the same patient.

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

The textures of sarcoidosis: quantifying lung disease through variograms.

. Sarcoidosis is a granulomatous disease affecting the lungs in over 90% of patients. Qualitative assessment of chest CT by radiologists is standard clinical practice and reliable quantification of disease from CT would support ongoing efforts to identify sarcoidosis phenotypes.

Optimizing prone CT use for suspected interstitial lung abnormalities.

Objectives: We investigated whether supine chest CT alone suffices for diagnosing ILAs, thereby reducing the need for prone chest CT.

Materials And Methods: Patients who underwent prone chest CT for suspected ILAs from January 2021 to July 2023, with matching supine CT within 1 year, were retrospectively evaluated. Five multinational thoracic radiologists independently rated ILA suspicion and fibrosis scores (1 to 5-point) and ILA extent (1-100%) using supine CT first, then combined supine-prone CT after a 1-month washout.

Unravelling the druggability and immunological roles of the SOCS-family proteins.

The Suppressor of Cytokine Signalling (SOCS) protein family play a critical role in cytokine signalling and regulation of the JAK/STAT pathway with functional consequences to the immune response. Members of this family are implicated in multiple different signalling cascades that drive autoimmune diseases and cancer, through their binding to phosphotyrosine modified proteins as well as ubiquitination activity as part of Cullin5 RING E3 ligases. Here we review the SOCS family members CISH and SOCS1-SOCS7, with a focus on their complex role in immunity.

"Do they REALLY trust us"?: Lessons from a volunteer research registry.

Background: All IN for Health is a well-established community-academic partnership dedicated to helping improve the lives of Indiana residents by increasing health research literacy and promoting health resources, as well as opportunities to participate in research. It is sponsored by the Indiana Clinical and Translational Science Institute (I-CTSI). The study's purpose was to measure trust in biomedical research and healthcare organizations among research volunteers.

Analysis of GFAP variants in UK Biobank suggests underdiagnosis or incomplete penetrance of adult-onset Alexander disease.

Background: Alexander disease is an autosomal dominant leukodystrophy caused by heterozygous pathogenic variants in the glial fibrillar acidic protein (GFAP) gene. Although increasingly recognised, there is evidence that Alexander disease, particularly later-onset disease, is significantly underdiagnosed and its true prevalence is unknown (the only population-based prevalence was estimated at one in 2.7 million).

Association between automatic AI-based quantification of airway-occlusive mucus plugs and all-cause mortality in patients with COPD.

In this cohort study involving 9399 current and former smokers from the Genetic Epidemiology of Chronic Obstructive Pulmonary Disease study, we assessed the relationship between artificial intelligence-quantified mucus plugs on chest CTs and all-cause mortality. Our results revealed a significant positive association, particularly for those with COPD GOLD stages 1-4, with HRs of 1.18 for 1-2 mucus-obstructed bronchial segments and 1.

Effect of inspiratory lung volume on bronchial and arterial dimensions and ratios on chest computed tomography in patients with chronic obstructive pulmonary disease.

Background: The assessment of bronchus-artery (BA) metrics on chest CT is important for detecting airway abnormalities. It is less clear how BA metrics are dependent on lung volume.

Methods: CTs were obtained from a COPDGene substudy investigating the impact of radiation dose on lung density.

Unlocking success: community engagement for enhanced HIV care outcomes.

Background: Though social determinants are the primary drivers of health, few studies of people living with HIV focus on non-clinical correlates of insecure and/or fragmented connections with the care system. Our team uses linked clinical and multisector non-clinical data to study how residential mobility and connection to social services influence the HIV care continuum. We engage a diverse group of individuals living with HIV and other invested community members to guide and inform this research.

Factors Influencing Postoperative Inpatient Rehabilitation Requirement After Surgical Intervention for Isolated Hip Fracture: A Multicenter Study.

Purpose: Hip fractures in the elderly, especially those discharged to a rehab facility, have historically been associated with poor outcomes. There has yet to be identified which patients have a higher likelihood of a rehab discharge after isolated hip fracture fixation. The purpose of this study was to identify factors that predispose patients to require short or long-term rehab after surgical intervention of traumatic, isolated hip fractures.

Quantitative CT Scan Analysis in Rheumatoid Arthritis-Related Interstitial Lung Disease.

Background: Quantitative CT imaging may be a useful predictor of outcome in rheumatoid arthritis-related interstitial lung disease (RA-ILD).

Research Question: What is the utility of deep learning-based lung fibrosis quantitation on CT imaging in assessing disease severity, predicting mortality, and identifying progression in RA-ILD?.

Study Design And Methods: CT scans on a primary cohort of 289 patients and a validation cohort of 50 individuals with RA-ILD were assessed quantitatively by using the data-driven texture analysis (DTA) method.

Unlocking Success: Community Engagement for Enhanced HIV Care Outcomes.

Background: Though social determinants are the primary drivers of health, few studies of people living with HIV (PLWH) focus on non-clinical correlates of insecure and/or fragmented connections with the care system. Our team has used linked clinical and multisector non-clinical data to study how residential mobility and connection to social services influence the HIV care continuum. We engage a diverse group of invested patients and community members to guide and inform this research.

At-home wearable-based monitoring predicts clinical measures and biological biomarkers of disease severity in Friedreich's Ataxia.

Background: Friedreich ataxia (FRDA) results in progressive impairment in gait, upper extremity coordination, and speech. Currently, these symptoms are assessed through expert examination at clinical visits. Such in-clinic assessments are time-consuming, subjective, of limited sensitivity, and provide only a limited perspective of the daily disability of patients.

Hydrogel Containing Propolis: Physical Characterization and Evaluation of Biological Activities for Potential Use in the Treatment of Skin Lesions.

Background: Skin injury affects the integrity of the skin structure and induces the wound healing process, which is defined by a well-coordinated series of cellular and molecular reactions that aim to recover or replace the injured tissue. Hydrogels are a group of promising biomaterials that are able to incorporate active ingredients for use as dressings. This study aimed to synthesize hydrogels with and without propolis extract and evaluate their physical characteristics and biological activities in vitro for potential use as active dressings in the treatment of skin lesions.

TTR associated leptomeningeal amyloidosis in a Sri Lankan patient.

Objectives: This case report aims to contribute to the expanding genotypic-phenotypic spectrum of TTR associated leptomeningeal amyloidosis.

Methods: Neuroimaging and targeted TTR Sanger sequencing were performed on a 52-year-old female presenting with cognitive and motor symptoms.

Results: The proband, a Sri Lankan woman, presented with a gradually progressive cognitive decline, followed by a rapid deterioration in motor function and level of consciousness.