IRCCS Istituto Auxologico Italiano

Clinimetrics of the Shortened Frontal Assessment Battery (FAB15) in Neurodegenerative Disorders

This study aimed to provide a clinimetric evaluation of the shortened Frontal Assessment Battery (FAB15) in a large cohort of patients with neurodegenerative disorders. FAB15 scores were retrospectively retrieved from 379 patients with neurocognitive disorders and 260 healthy con...

Tau isoform mapping across tissues and biofluids reveals a signature distinguishing Alzheimer’s disease from amyotrophic lateral sclerosis

Abstract Blood phosphorylated tau 217 (p-tau217) accurately detects Alzheimer’s disease (AD) pathology but is also elevated in amyotrophic lateral sclerosis (ALS), likely reflecting peripheral (big) tau released from muscle. Assays selectively measuring brain-derived (BD-) tau an...

A 5D dynamic bicellular in vitro model recapitulates the aetiopathogenic triad of systemic sclerosis: a preliminary proof-of-concept study

The present work aimed at modelling in vitro the interplay between immune complexes (ICs) containing scleroderma-specific antibodies, vasculopathy and skin fibrosis to reproduce the multifaceted etiopathogenesis of systemic sclerosis (SSc). Endothelial cells (ECs) were grown in a...

The lie in the eyes: Ocular indicators and machine‐learning models with a cognitive load paradigm to detect lying

Abstract Purpose Behavioural and ocular markers may provide reliable indicators of lying, although their combined use remains underexplored. This study examined whether eye‐tracking could contribute to the detection of lying using an Induced fake identity (IFI) paradigm, consider...

Italian norms for two brief visuospatial tests: Qualitative Scoring Pentagon Test and Benton Judgment of Line Orientation - Short Form

Visuospatial (VS) assessments, such as the pentagon copying task and the Benton Judgment of Line Orientation Test (BJLOT), are essential for diagnosing brain disorders. This study provides Italian regression-based norms for the Qualitative Scoring Pentagon Test (QSPT) and BJLOT-S...

Molecular mechanisms underlying the effectiveness of triiodothyroacetic acid (Triac) in patients with resistance to thyroid hormone β (RTHβ): a multicentre, international, retrospective cohort study

Background Disease features in resistance to thyroid hormone beta (RTHβ), caused by THRB mutations, arise from insensitivity to thyroid hormone in tissues expressing thyroid hormone receptor (TR)β and from lifelong thyrotoxic effects in TRα1-expressing tissues, posing substantial...

Dissociation Between Instrumented Mobility and Self-Reported Function in Adults Aged 70 Years or Older After Unilateral Total Knee Arthroplasty: A Preliminary Longitudinal Study Using an Inertial Sensor and the WOMAC

Background and Objectives: Total knee arthroplasty (TKA) reliably reduces pain and improves self-reported function, yet objective mobility may remain impaired in older adults. We examined the relationship between inertial-sensor-based mobility and the Western Ontario and McMaster...

A consortium-driven framework for biomarker prioritization in the HEBE aging study

Abstract Aging is a complex biological process influenced by chronic low-grade inflammation, oxidative stress, and metabolic dysregulation, collectively termed inflammaging. The HEBE (Healthy aging versus inflamm-aging: the role of physical Exercise in modulating the Biomarkers o...

Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions

Long-term glucocorticoid therapy is standard of care for individuals with Duchenne muscular dystrophy (DMD) but often results in impaired growth and delayed or incomplete puberty, impacting their physical and psychosocial health. Although DMD endocrine care has evolved, leading t...

Sphingolipid signatures at the extremes of energy balance: a comparative study of obesity and anorexia nervosa in women

Background Anorexia nervosa (AN) and obesity (OB) represent opposite extremes of energy balance and are both associated with profound metabolic alterations. Increasing evidence suggests that sphingolipids play a central role in cardiometabolic regulation, inflammation, and insuli...

Migraine in Real-World Clinical Practice: Patient Burden, Healthcare Utilization and Unmet Needs—A Cross-Sectional Analysis of the I-GRAINE Study

What are the main findings?Migraine care in Italy is characterized by a mismatch between healthcare resource utilization and clinical needs, with limited primary-care involvement, repeated specialist consultations, and healthcare nomadism.Healthcare resource utilization is substa...

Sex and Mortality Among Patients with Papillary Thyroid Cancer

Importance Unlike patient age, which has been a well-established and routinely used primary biological prognostic factor in the risk stratification of papillary thyroid cancer (PTC), the prognostic value of patient sex remains controversial in this common endocrine malignant neop...

Long‐Term Progression to Permanent Atrial Fibrillation After Cryoballoon Pulmonary Vein Isolation: Insights From the Multicenter 1STOP Project

ABSTRACT Background Atrial fibrillation (AF) often progresses from paroxysmal to persistent forms, culminating in permanent AF, a transition associated with increased risks of stroke, heart failure, and hospitalization. Cryoballoon pulmonary vein isolation (CB‐PVI) is an establis...

An application of random forest regression for predicting healthcare costs using administrative databases

BACKGROUND: segmentation. METHODS: This retrospective population-based study used administrative healthcare data (2011-2023) from the Health Protection Agency of Bergamo (Italy). We traced 5-year healthcare resource utilization to predict individual's healthcare costs in the foll...

Activities and Role Perceptions of Clinical Research Nurses in Participating Italian Scientific Research Hospitals: A Multicentre Cross-Sectional Survey

Background/Objective: Clinical research nurses (CRNs) support participant care and trial conduct, yet their role is inconsistently recognised and integrated in Italian Scientific Institutes for Research, Hospitalisation and Healthcare (IRCCSs). This study aimed to describe the pe...

Pacemaker Implantation in Patients With Syncope, Bundle Branch Block and Negative Electrophysiological Study

ABSTRACT Introduction The long‑term need for permanent pacemaker (PM) implantation in patients with syncope, bundle branch block (BBB), and a negative electrophysiological study (EPS) is not well defined. Methods and Results We retrospectively analyzed consecutive patients underg...

Towards a deep-learning genomic tool for risk stratification and diagnostic support in sporadic ALS

Abstract Background A variety of common and rare genetic factors have been implicated in the development of amyotrophic lateral sclerosis (ALS), and the evidence is that a genetic component is present in most affected individuals. However, our current understanding of ALS genetic...

A multidimensionalMuscle quality index in severe bbesity: relationships with ageing, adiposity, and functional performance

Traditional anthropometric indicators such as body mass index (BMI) may inadequately capture functional muscular impairment in obesity. To investigate a multidimensional composite muscle quality index (MQI) integrating relative strength and lower-limb functional power in adults w...

Placebo and nocebo effects on pain through the lens of the predictive brain: Neurobiological mechanisms and translational implications

Placebo and nocebo effects on pain provide a model for investigating how cognitive and contextual factors modulate the physiological processes underlying nociception and its regulation. However, existing accounts remain fragmented and lack a unifying mechanistic framework linking...

Phenotyping iPSC-derived neurons from Angelman patients and partial rescue via JNK pathway inactivation

Angelman Syndrome (AS, MIM #105,830) is a rare neurodevelopmental disorder caused by imprinting defects, and it is marked by motor impairment, intellectual disability, speech limitations, and seizures. The condition arises due to the loss of function in neurons of the maternally-...