Outcomes of Patients with Heart Failure Hospitalized for COVID-19-A Study in a Tertiary Italian Center.

Coronavirus Disease 2019 (COVID-19), triggered by SARS-CoV-2, has represented a global pandemic associated with an elevated rate of mortality, mainly among older individuals. The extensive pulmonary involvement by the viral infection might have precipitated pre-existing chronic conditions in this vulnerable population, including heart failure (HF). The aim of this retrospective, observational study was to assess the impact of COVID-19 in patients with a prior diagnosis of HF referred to the Emergency Department of the Agostino Gemelli University Hospital between March 2020 and January 2023.

Clinical characteristics and prognostic impact of atrial fibrillation among older patients with heart failure with preserved ejection fraction hospitalized for acute heart failure.

Heart failure with preserved ejection fraction (HFpEF) and atrial fibrillation (AF) are often coexisting conditions, but their interrelationship has not yet been clarified. This study investigated the clinical characteristics and prognostic impact of AF among older patients with HFpEF hospitalized for acute HF (AHF). The study included patients 65 years of age and older who were admitted to the Emergency Department due to AHF from 1 January 2016 to 31 December 2019.

Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease.

Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available. Employing an untargeted metabolomics approach, we analyzed the metabolic changes in CLN6 subjects to see if this system could potentially yield biomarkers for diagnosis and monitoring disease progression.

The Clinical Frailty Scale (CFS) as an Independent Prognostic Factor for Patients ≥80 Years with Small Bowel Obstruction (SBO).

Background: SBO is a potentially life-threatening condition that often affects older patients. Frailty, more than age, is expected to play a crucial role in predicting SBO prognosis in this population. This study aims to define the influence of Clinical Frailty Scale (CFS) on mortality and major complications in patients ≥80 years with diagnosis of SBO at the emergency department (ED).

Sex-Based Differences in Clinical Characteristics and Outcomes among Patients with Peripheral Artery Disease: A Retrospective Analysis.

Peripheral arterial disease (PAD) is a prevalent medical condition associated with high mortality and morbidity rates. Despite the high clinical burden, sex-based differences among PAD patients are not well defined yet, in contrast to other atherosclerotic diseases. This study aimed to describe sex-based differences in clinical characteristics and outcomes among hospitalized patients affected by PAD.

Predicting ICU admission and death in the Emergency Department: A comparison of six early warning scores.

Aim: To compare the ability of the most used Early Warning Scores (EWS) to identify adult patients at risk of poor outcomes in the emergency department (ED).

Methods: Single-center, retrospective observational study. We evaluated the digital records of consecutive ED admissions in patients ≥ 18 years from 2010 to 2019 and calculated NEWS, NEWS2, MEWS, RAPS, REMS, and SEWS based on parameters measured on ED arrival.

Outcomes and Predictors of In-Hospital Mortality among Older Patients with Dementia.

Dementia is associated with high rates of admission to hospital, due to acute illness, and in-hospital mortality. The study aimed to investigate the impact of dementia on in-hospital mortality and identify the predictors of in-hospital mortality in these patients. This was a retrospective study evaluating all the patients ≥65 years consecutively admitted to our Emergency Department (ED).

Frailty assessment as independent prognostic factor for patients ≥65 years undergoing urgent cholecystectomy for acute cholecystitis.

Background: To evaluate, in a prospective observational cohort study of adults ≥65 years old, the frailty status at the emergency department (ED) admission for the in-hospital death risk stratification of patients needing urgent cholecystectomy.

Methods: Clinical variables and frailty status assessed in the ED were evaluated for the association with major complications and the need for open surgery. The parameters evaluated were frailty, comorbidities, physiological parameters, surgical approach, and laboratory values at admission.

Frailty in Elderly Patients with Covid-19: A Narrative Review.

Introduction: The SARS CoV-2 pandemic still generates a very high number of affected patients and a significant mortality rate. It is essential to establish objective criteria to stratify COVID-19 death risk. Frailty has been identified as a potential determinant of increased vulnerability in older adults affected by COVID-19, because it may suggest alterations of physical performance and functional autonomy.

Clinical Characteristics and Predictors of In-Hospital Mortality among Older Patients with Acute Heart Failure.

Acute Heart Failure (AHF)-related hospitalizations and mortality are still high in western countries, especially among older patients. This study aimed to describe the clinical characteristics and predictors of in-hospital mortality of older patients hospitalized with AHF. We conducted a retrospective study including all consecutive patients ≥65 years who were admitted for AHF at a single academic medical center between 1 January 2008 and 31 December 2018.

Frailty Assessment in the Emergency Department for Risk Stratification of COVID-19 Patients Aged ≥80 Years.

Objectives: To evaluate, in a cohort of adults aged ≥80 years, the overlapping effect of clinical severity, comorbidities, cognitive impairment, and frailty, for the in-hospital death risk stratification of COVID-19 older patients since emergency department (ED) admission.

Design: Single-center prospective observational cohort study.

Setting And Participants: The study was conducted in the ED of a teaching hospital that is a referral center for COVID-19 in central Italy.

Does chronic oral anticoagulation reduce in-hospital mortality among COVID-19 older patients?

Background: Patients hospitalized with COVID-19 experienced an increased risk of venous thromboembolism.

Aims: To evaluate the effect of chronic oral anticoagulation (OAC) therapy, both with vitamin K antagonists (VKAs) or direct oral anticoagulants (DOACs), on prognosis of COVID-19 older patients.

Methods: Single-center prospective study conducted in the Emergency Department (ED) of a teaching hospital, referral center for COVID-19 in central Italy.

Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

EDEM3 encodes a protein that converts ManGlcNAc isomer B to ManGlcNAc. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and degraded by the proteasome. In this study, through a combination of exome sequencing and gene matching, we have identified seven independent families with 11 individuals with bi-allelic protein-truncating variants and one individual with a compound heterozygous missense variant in EDEM3.

Characteristic of IgA and IgG antibody response to SARS-CoV-2 infection in an Italian referral COVID-19 Hospital.

Introduction: Antibody response plays a fundamental role in the natural history of infectious disease. A better understanding of the immune response in patients with SARS-CoV-2 infection could be important for identifying patients at greater risk of developing a more severe form of disease and with a worse prognosis.

Methods: We performed a cross-sectional analysis to determine the presence and the levels of both anti-SARS-CoV-2 IgG and IgA in a cohort of hospitalized patients with confirmed infection at different times in the natural history of the disease.

Predictors of in-hospital mortality AND death RISK STRATIFICATION among COVID-19 PATIENTS aged ≥ 80 YEARs OLD.

Introduction: To date, mainly due to age-related vulnerability and to coexisting comorbidities, older patients often face a more severe COVID-19. This study aimed to identify at Emergency Department (ED) admission the predictors of in-hospital mortality and suitable scores for death risk stratification among COVID-19 patients ≥ 80 years old.

Methods: Single-centre prospective study conducted in the ED of an university hospital, referral center for COVID-19 in central Italy.

Prognostic role of hypothyroidism and low free-triiodothyronine levels in patients hospitalized with acute heart failure.

Low thyroid function has been widely recognized as a potential cause of heart failure (HF), but the evidence about a possible association with in-hospital, all-cause mortality in patients with acute HF (AHF) is not consistent. This study sought to investigate the prevalence and prognostic role of hypothyroidism, overt and subclinical, and of low free-triiodothyronine (fT3) levels in patients hospitalized with AHF. We retrospectively analyzed consecutive 1018 patients who were hospitalized for AHF in a single academic medical center [Fondazione Policlinico A.

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Purpose: MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo, Lujan, and FG syndromes.

Methods: By international matchmaking we assembled variant and clinical data on 18 females presenting with variable neurodevelopmental disorders (NDDs) and harboring de novo variants in MED12.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay.

CNOT1 is a member of the CCR4-NOT complex, which is a master regulator, orchestrating gene expression, RNA deadenylation, and protein ubiquitination. We report on 39 individuals with heterozygous de novo CNOT1 variants, including missense, splice site, and nonsense variants, who present with a clinical spectrum of intellectual disability, motor delay, speech delay, seizures, hypotonia, and behavioral problems. To link CNOT1 dysfunction to the neurodevelopmental phenotype observed, we generated variant-specific Drosophila models, which showed learning and memory defects upon CNOT1 knockdown.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein.

The strange case of congenital mitral stenosis in an adult man with cor triatriatum.

We report the case of a 74-year-old male, with a medical history of cor triatriatum, admitted with a 10-day history of intermittent fever. Three sets of blood cultures were positive for Providencia rettgeri. Transthoracic and transesophageal echocardiogram excluded infective endocarditis, but revealed a congenital accessory tissue adhering to the mitral valve, causing supravalvular mitral stenosis.

Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly.

Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive behaviors. In recent years, exome sequencing (ES) has been instrumental in deciphering the genetic etiology of ID. Here, through ES of a large cohort of individuals with ID, we identified two bi-allelic frameshift variants in METTL5, c.

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.