Transcriptomics profiling of Parkinson's disease progression subtypes reveals distinctive patterns of gene expression.

Background: Parkinson's Disease (PD) varies widely among individuals, and Artificial Intelligence (AI) has recently helped to identify three disease progression subtypes. While their clinical features are already known, their gene expression profiles remain unexplored.

Objectives: The objectives of this study were (1) to describe the transcriptomics characteristics of three PD progression subtypes identified by AI, and (2) to evaluate if gene expression data can be used to predict disease subtype at baseline.

Identification of an immunological signature of long COVID syndrome.

Introduction: Acute COVID-19 infection causes significant alterations in the innate and adaptive immune systems. While most individuals recover naturally, some develop long COVID (LC) syndrome, marked by persistent or new symptoms weeks to months after SARS-CoV-2 infection. Despite its prevalence, there are no clinical tests to distinguish LC patients from those fully recovered.

The role of social motivation in sharing and fairness: insights from Williams syndrome.

Background: Sharing and fairness are important prosocial behaviors that help us navigate the social world. However, little is known about how and whether individuals with Williams Syndrome (WS) engage in these behaviors. The unique phenotype of individuals with WS, consisting of high social motivation and limited social cognition, can also offer insight into the role of social motivation in sharing and fairness when compared to typically developing (TD) individuals.

Mid-term clinical outcomes and cardiac function in patients receiving cardiac contractility modulation.

Objectives: To describe the mid-term clinical and functional cardiac contractility modulation therapy (CCM) recipients in an urban population with heart failure.

Background: CCM is a non-excitatory electrical therapy for patients with systolic heart failure with NYHA class III symptoms and ejection fraction (EF) 25-45%. How CCM affects a broad range of clinical measures, including diastolic dysfunction (DD) and weight change, is unexplored.

Beta blockers are associated with lower all-cause mortality among HFpEF patients.

Background: The evidence regarding beta blocker (BB) benefit in heart failure with preserved ejection fraction (HFpEF) remains inconclusive, leading to consideration of BB withdrawal in this population.

Objectives: In this study, we retrospectively analyzed the association of BB on all-cause mortality in HFpEF patients.

Methods: This is a single-center retrospective cohort study of 20,206 patients with left ventricular ejection fraction (EF) ≥ 50% who were hospitalized with decompensated HF between January 2011 and March 2020.

Non-Cardiac Amyloidosis Findings Are Not Increased in African American Carriers of V142I with Heart Failure and/or Arrhythmia.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive systemic disease involving the extracellular deposition of misfolded transthyretin protein. The hereditary subtype is caused by mutations in the transthyretin ( gene. An estimated 2-3% of individuals of African American (AA) ancestry carry the p.

New point-of-care calcaneal ultrasound densitometer (Osteosys BeeTLE) compared to standard dual-energy X-ray absorptiometry (DXA).

Dual-energy X-ray absorptiometry (DXA) represents the gold standard for measuring bone mineral density (BMD). However, its size and bulkiness limit its use in mass screening. Portable and easily accessible instruments are more suitable for this purpose.

Angiogenic markers and maternal echocardiographic indices in women with hypertensive disorders of pregnancy.

Objective: The maternal cardiovascular system of women with hypertensive disorders of pregnancy (HDP) can be impaired, with higher rates of left ventricular (LV) remodeling and diastolic dysfunction compared to those with normotensive pregnancy. The primary objective of this prospective study was to correlate cardiac indices obtained by transthoracic echocardiography (TTE) and circulating angiogenic markers, such as soluble fms-like tyrosine kinase-1 (sFlt-1) and placental growth factor (PlGF).

Methods: In this study, 95 women with a pregnancy complicated by HDP and a group of 25 with an uncomplicated pregnancy at term underwent TTE and blood tests to measure sFlt-1 and PlGF during the peripartum period (before delivery or within a week of giving birth).

Synaptic and transcriptomic features of cortical and amygdala pyramidal neurons predict inefficient fear extinction.

Fear-related disorders arise from inefficient fear extinction and have immeasurable social and economic costs. Here, we characterize mouse phenotypes that spontaneously show fear-independent behavioral traits predicting adaptive or maladaptive fear extinction. We find that, already before fear conditioning, specific morphological, electrophysiological, and transcriptomic patterns of cortical and amygdala pyramidal neurons predispose to fear-related disorders.

First-trimester choroid-plexus-to-lateral-ventricle disproportion and prediction of subsequent ventriculomegaly.

Objective: Ventriculomegaly can be associated with long-term neurodevelopmental impairment. Prenatal diagnosis of ventriculomegaly is most commonly made at the routine second-trimester anomaly scan. The value of first-trimester ultrasound has expanded to early diagnosis and screening of fetal abnormalities.

NIPAT as Non-Invasive Prenatal Paternity Testing Using a Panel of 861 SNVs.

In 1997, it was discovered that maternal plasma contains Cell-Free Fetal DNA (cffDNA). cffDNA has been investigated as a source of DNA for non-invasive prenatal testing for fetal pathologies, as well as for non-invasive paternity testing. While the advent of Next Generation Sequencing (NGS) led to the routine use of Non-Invasive Prenatal Screening (NIPT or NIPS), few data are available regarding the reliability and reproducibility of Non-Invasive Prenatal Paternity Testing (NIPPT or NIPAT).

Analysis of Genetic Variants Associated with COVID-19 Outcome Highlights Different Distributions among Populations.

The clinical spectrum of SARS-CoV-2 infection ranges from asymptomatic status to mild infections, to severe disease and death. In this context, the identification of specific susceptibility factors is crucial to detect people at the higher risk of severe disease and improve the outcome of COVID-19 treatment. Several studies identified genetic variants conferring higher risk of SARS-CoV-2 infection and COVID-19 severity.

Utilization of cardiac graft with single coronary artery for orthotopic heart transplantation.

Background: Anomalous coronary arteries arise in a small subset of the population, with each configuration conveying a varying degree of long-term risk. The utilization of cardiac grafts with these anomalies have not been well described.

Case Presentation: An anomalous single coronary artery with the left main coronary artery arising from the right coronary ostium was discovered in a 40-year old male evaluated for cardiac donation.

Cidofovir for treating complicated monkeypox in a man with acquired immune deficiency syndrome.

In July 23, the World Health Organization (WHO) declared monkeypox (MPX) a global health emergency of international concern given its rapid spread. So far, most current MPX outbreaks have involved young men who have sex with men (MSM), although with overall mild, self-limiting clinical manifestations. We aim to describe the case of an HIV positive young MSM whose status of immune compromission probably contributed to a more severe clinical course of MPX disease, thus requiring hospitalization and antiviral treatment.

COVID-19, nutrition, and gender: An evidence-informed approach to gender-responsive policies and programs.

In addition to the direct health impacts of COVID-19, government and household mitigation measures have triggered negative indirect economic, educational, and food and health system impacts, hitting low-and middle-income countries the hardest and disproportionately affecting women and girls. We conducted a gender focused analysis on five critical and interwoven crises that have emerged because of the COVID-19 crisis and exacerbated malnutrition and food insecurity. These include restricted mobility and isolation; reduced income; food insecurity; reduced access to essential health and nutrition services; and school closures.

Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD.

Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype-phenotype correlation of patients and families, raising the need for further research and data. Thus, the present review provides an update of the main molecular aspects underlying the complex architecture of FSHD, including the genetic factors (related to repeated units and FSHD-associated genes), epigenetic elements ( methylation status, non-coding RNAs and high-order chromatin interactions) and gene expression profiles (FSHD transcriptome signatures both at bulk tissue and single-cell level). In addition, the review will also describe the methods currently available for investigating the above-mentioned features and how the resulting data may be combined with artificial-intelligence-based pipelines, with the purpose of developing a multifunctional tool tailored to enhancing the knowledge of disease pathophysiology and progression and fostering the research for novel treatment strategies, as well as clinically useful biomarkers.

The Cerebellum as an Embodying Machine.

Whereas emotion theorists often keep their distance from the embodied approach, theorists of embodiment tend to treat emotion as a mainly physiologic process. However, intimate links between emotions and the body suggest that emotions are privileged phenomena to attempt to reintegrate mind and body and that the body helps the mind in shaping emotional responses. To date, research has favored the cerebrum over other parts of the brain as a substrate of embodied emotions.

Relationship between Nutrition, Lifestyle, and Neurodegenerative Disease: Lessons from , and .

In the present review, the main features involved in the susceptibility and progression of neurodegenerative disorders (NDDs) have been discussed, with the purpose of highlighting their potential application for promoting the management and treatment of patients with NDDs. In particular, the impact of genetic and epigenetic factors, nutrients, and lifestyle will be presented, with particular emphasis on Alzheimer's disease (AD) and Parkinson's disease (PD). Metabolism, dietary habits, physical exercise and microbiota are part of a complex network that is crucial for brain function and preservation.

: A Cross-Disciplinary Approach to the Verbal Expression of Emotional Experience.

The analysis of sequences of words and prosody, meter, and rhythm provided in an interview addressing the capacity to identify and describe emotions represents a powerful tool to reveal emotional processing. The ability to express and identify emotions was analyzed by means of the Toronto Structured Interview for Alexithymia (TSIA), and TSIA transcripts were analyzed by Natural Language Processing to shed light on verbal features. The brain correlates of the capacity to translate emotional experience into words were determined through cortical thickness measures.

A Reproducible Deep-Learning-Based Computer-Aided Diagnosis Tool for Frontotemporal Dementia Using MONAI and Clinica Frameworks.

Despite Artificial Intelligence (AI) being a leading technology in biomedical research, real-life implementation of AI-based Computer-Aided Diagnosis (CAD) tools into the clinical setting is still remote due to unstandardized practices during development. However, few or no attempts have been made to propose a reproducible CAD development workflow for 3D MRI data. In this paper, we present the development of an easily reproducible and reliable CAD tool using the Clinica and MONAI frameworks that were developed to introduce standardized practices in medical imaging.

WARE: Wet AMD Risk-Evaluation Tool as a Clinical Decision-Support System Integrating Genetic and Non-Genetic Factors.

Given the multifactorial features characterizing age-related macular degeneration (AMD), the availability of a tool able to provide the individual risk profile is extremely helpful for personalizing the follow-up and treatment protocols of patients. To this purpose, we developed an open-source computational tool named WARE (Wet AMD Risk Evaluation), able to assess the individual risk profile for wet AMD based on genetic and non-genetic factors. In particular, the tool uses genetic risk measures normalized for their relative frequencies in the general population and disease prevalence.