Endogenous retroelement activation is implicated in IFN-α production and anti-CCP autoantibody generation in early Rheumatoid Arthritis.

Objectives: Endogenous retroelements (EREs) stimulate type 1 interferon (IFN-I) production but have not been explored as potential interferonogenic triggers in Rheumatoid Arthritis (RA). We investigated ERE expression in early RA (eRA), a period where IFN-I is increased.

Methods: ERE expression (LTR5, LINE1, SINE) in disease modifying treatment naïve eRA whole blood and bulk synovial tissue was examined by RT-PCR and Nanostring alongside IFN-α activity.

Cuneus atrophy and Parkinsonian phenoconversion in cognitively unimpaired patients with isolated REM sleep behavior disorder.

Isolated rapid-eye-movement sleep behavior disorder (iRBD) is a strong predictor of Parkinson's disease and Dementia with Lewy bodies. Previous studies indicate that cortical atrophy in iRBD patients may be linked to cognitive impairment, but the pattern of atrophy is inconsistently reported. This study aimed to elucidate cortical atrophy patterns in a cognitively unimpaired iRBD cohort, focusing on regions associated with cognitive functions, particularly the cuneus/precuneus, and evaluated the predictive value for future phenoconversion.

Shear wave elastography in the assessment of gastrocnemius spastic muscle elasticity: influences of ankle position and muscle contraction.

Background: Following upper motor neuron syndromes (UMNS), intrinsic viscoelastic muscle properties such as elastic stiffness may be altered, which leads to muscle hyper-resistance to passive mobilization. So far, no gold standard assessment of hyper-resistance, whether clinical or instrumental, is available. Shear wave elastography (SWE) has been increasingly used for non-invasive evaluation of elastic stiffness of skeletal muscles in people with hyper-resistance.

PARP inhibitors in testicular germ cell tumors: what we know and what we are looking for.

Testicular germ cell tumors (TGCTs), the most common malignancies affecting young men, are characterized by high sensitivity to cisplatin-based chemotherapy, which leads to high cure rates even in metastatic disease. However, approximately 30% of patients with metastatic TGCTs relapse after first-line treatment and those who can be defined as platinum-refractory patients face a very dismal prognosis with only limited chemotherapy-based treatment options and an overall survival of few months. Hence, to understand the mechanisms underlying cisplatin resistance is crucial for developing new treatment strategies.

Vitamin D and focal brain atrophy in PD with non-dementia: a VBM study.

Background: The status of vitamin D has been proposed to have an impact on cognition. Gray matter volume (GMV) is a potential marker of cognitive function. We investigated whether lower serum 25-hydroxyvitamin D level was associated with reduced cerebral GMV in Parkinson's disease with non-dementia (PDND) patients.

Enhancing artificial intelligence-driven sleep apnea diagnosis: The critical importance of input signal proficiency with a focus on mandibular jaw movements.

Purpose: This review aims to highlight the pivotal role of the mandibular jaw movement (MJM) signal in advancing artificial intelligence (AI)-powered technologies for diagnosing obstructive sleep apnea (OSA).

Methods: A scoping review was conducted to evaluate various aspects of the MJM signal and their contribution to improving signal proficiency for users.

Results: The comprehensive literature analysis is structured into four key sections, each addressing factors essential to signal proficiency.

Postcholecystectomy Gut Microbiome Changes and the Clinical Impact: A Systematic Review With Narrative Synthesis.

Background: Cholecystectomy (CCE) can affect the enterohepatic circulation of bile acids and result in gut microbiome changes. This systematic review aimed to clarify the effect of CCE on gut microbiome composition and its clinical impact.

Method: A systematic search was conducted in PubMed, Web of Science, and Scopus, combining keywords such as "cholecystectomy" or "post-cholecystectomy" with "gut microbiome," "stool microbiome," or "gut dysbiosis.

The effects of autistic traits in adolescents on the efficacy of paediatric Intensive Interdisciplinary Pain Treatment (IIPT).

Autistic adolescents are at greater risk of chronic pain, but it is unclear how autistic features may relate to individual aspects of chronic pain. As autism traits exist in the general population as well, it is important to know if autistic traits could impact how effective chronic pain management is for adolescents. Here we examined autistic traits in 112 patients (12-18yrs) recruited from a UK national specialist adolescent pain rehabilitation programme.

Cold induces increased ad libitum energy intake independent of changes in energy expenditure: a controlled crossover trial in adults.

Background: Measures of energy metabolism (energy expenditure [EE], respiratory exchange ratio [RER]) have been associated with ad libitum energy intake (EI) and weight gain in previous observational studies, suggesting that energy-sensing mechanisms drive EI to meet metabolic energy demands.

Objectives: We aimed to employ mild cold exposure as an intervention to alter energy metabolism and evaluate its causal effects on concurrent and next day ad libitum EI.

Methods: In a controlled crossover study, 47 volunteers (16 female; age 37.

AMPK protects proximal tubular epithelial cells from lysosomal dysfunction and dedifferentiation induced by lipotoxicity.

Renal proximal tubules are a primary site of injury in metabolic diseases. In obese patients and animal models, proximal tubular epithelial cells (PTECs) display dysregulated lipid metabolism, organelle dysfunctions, and oxidative stress that contribute to interstitial inflammation, fibrosis and ultimately end-stage renal failure. Our research group previously pointed out AMP-activated protein kinase (AMPK) decline as a driver of obesity-induced renal disease.

Improvement of smile characteristics in dentofacial deformity patients following orthognathic surgery.

The purpose of this study was to investigate the effect of bimaxillary surgery on smile characteristics, including smile line, smile arc, smile index (SI), most posterior teeth displayed(MPTD), buccal corridor ratio (BCR), and smile symmetry. The study consisted of 87 patients with dentofacial deformity: Class II (30 patients), Class III (37 patients), and asymmetry (20 patients). Pearson's chi-squared test and ANOVA were used to analyze the differences in smile characteristics across the preoperative groups.

Longitudinal association between ADL disability and depression in middle-aged and elderly: national cohort study.

Background: The decline in daily living abilities (ADL) among older adults is a notable predictor of depressive symptoms and the occurrence of disease. However, the effects of changes in ADL disability on the progression of depression have not been extensively studied.

Objective: This research aims to examine the relationship between current ADL disability and depression in individuals aged 45 and older, as well as to explore how ADL disability influences the progression of depression in later life within China.

Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort.

A wide phenotypic spectrum exists among DMD patients, with genetic modifiers seen as a putative cause of this variability. The main aim was to evaluate the effect of 4 genetic modifiers and the location of DMD variants on disease severity in a DMD Argentine cohort. A secondary objective was to provide a summary of the current state of knowledge and association of the tested loci with DMD's phenotype.

Impaired Awareness and Symptomatology of Hypoglycemia in Adults with Type 1 Diabetes using Continuous Glucose Monitoring.

Context & Objective: Sparse large-scale studies have characterized hypoglycemia symptomatology in adults with type 1 diabetes (T1D) who use continuous glucose monitoring (CGM). This research aimed to evaluate the relationship of impaired awareness of hypoglycemia (IAH) with hypoglycemia symptomatology and frequency in this population.

Design: A cross-sectional survey was conducted in 2023.

Changes in thyroid function and autoimmunity in older individuals: longitudinal analysis of the Whickham cohort.

Background: Longitudinal studies of thyroid function have demonstrated differing results. It remains unclear whether changes in thyroid function affect the diagnosis of subclinical thyroid dysfunction with ageing.

Methods: Survivors of the Whickham cohort study were evaluated on two occasions between the years 2008-2012 and 2016-2019.

Hepatic Steatosis and Fibrosis, Cardiorespiratory Fitness, and Metabolic Mediators in the Community.

Background And Aims: Individuals with steatotic liver disease (SLD) are at high cardiovascular disease (CVD) risk, but approaches to characterise and mitigate this risk are limited. By investigating relations, and shared metabolic pathways, of hepatic steatosis/fibrosis and cardiorespiratory fitness (CRF), we sought to identify new avenues for CVD risk reduction in SLD.

Methods: In Framingham Heart Study (FHS) participants (N = 2722, age 54 ± 9 years, 53% women), vibration-controlled transient elastography (VCTE) was performed between 2016-2019 to assess hepatic steatosis (continuous attenuation parameter [CAP]) and fibrosis (liver fibrosis measure [LSM]).

Sex-specific outcomes in acute myocardial infarction-associated cardiogenic shock treated with and without V-A ECMO: a retrospective German nationwide analysis from 2014 to 2018.

Acute myocardial infarction-associated cardiogenic shock (AMICS) remains a condition with high mortality. Some patients require mechanical circulatory support (MCS) as their condition deteriorates. Sex-specific differences in risk factors and outcomes of cardiovascular disease have previously been described but are inconclusive regarding the use of MCS in AMICS.

Association of G12D mutation in the KRAS gene with HPV and EBV in gastrointestinal cancer tissues.

Objective: This study aimed to explore the potential relationship between viral infections and gastrointestinal (GI) malignancies, focusing on the presence of KRAS G12D mutations. Specifically, we investigated the association of viral agents, including human papillomavirus (HPV) and Epstein-Barr virus (EBV), with KRAS G12D mutations in GI cancers to better understand their combined role in cancer development.

Methods: This cross-sectional study comprised 92 patients diagnosed with GI cancer and 100 healthy individuals in the control group.

Smart control lipid-based nanocarriers for fine-tuning gut hormone secretion.

Modulating the endogenous stores of gastrointestinal hormones is considered a promising strategy to mimic gut endocrine function, improving metabolic dysfunction. Here, we exploit mouse and human knock-in and knockout intestinal organoids and show that agents used as commercial lipid excipients can activate nutrient-sensitive receptors on enteroendocrine cells (EECs) and, when formulated as lipid nanocarriers, can bestow biological effects through the release of GLP-1, GIP, and PYY from K and L cells. Studies in wild-type, dysglycemic, and gut knockout mice demonstrated that the effect exerted by lipid nanocarriers could be modulated by varying the excipients (e.

Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy.

Purpose: In parent-child trios with genome sequencing data, we investigated inherited biallelic deletions to identify known and novel genetic disorders.

Methods: We developed a copy-number variations analysis pipeline based on autosomal genome sequencing read depth of Genomics England 100,000 Genomes Project data from 11,754 parent-child trios and additional 18,875 non-trios. A control cohort of 15,440 cancer patients provided independent deletion frequencies.

Subcutaneous electroencephalography monitoring for people with epilepsy and intellectual disability: co-production workshops.

Background: Nearly 25% of people with intellectual disability (PwID) have epilepsy compared to 1% of the UK general population. PwID are commonly excluded from research, eventually affecting their care. Understanding seizures in PwID is particularly challenging because of reliance on subjective external observation and poor objective validation.

Clinical outcomes of a twice daily metronidazole dosing strategy for Bacteroides bloodstream infections.

Objective: The optimal metronidazole dose for the treatment of Bacteroides spp. has not been well-defined.

Methods: This study was a multicenter, retrospective chart review of adult patients with bacteremia secondary to Bacteroides spp.