A pragmatic approach to risk assessment in pulmonary arterial hypertension using the 2015 European Society of Cardiology/European Respiratory Society guidelines

open12noTo optimise treatment of patients with pulmonary arterial hypertension (PAH), the 2015 European Society of Cardiology/European Respiratory Society guidelines recommend using risk stratification, with the aim of patients achieving low-risk status. Previous analyses of registries made progress in using risk stratification approaches, however, the focus is often on patients with a low-risk prognosis, whereas most PAH patients are in intermediate-risk or high-risk categories. Using only six parameters with high prognostic relevance, we aimed to demonstrate a pragmatic approach to individual patient risk assessment to discriminate between patients at low risk, intermediate risk and high risk of death.This work was supported by Department of Experimental, Diagnostic and Specialty Medicine-DIMES, University of Bologna, Bologna, Italy and by the National Institute of Biostructures and Biosystems, Rome, Italy.openDardi, Fabio; Manes, Alessandra; Guarino, Daniele; Zuffa, Elisa; De Lorenzis, Alessandro; Magnani, Ilenia; Rotunno, Mariangela; Ballerini, Alberto; Lo Russo, Gerardo Vito; Nardi, Elena; Galiè, Nazzareno; Palazzini, MassimilianoDardi, Fabio; Manes, Alessandra; Guarino, Daniele; Zuffa, Elisa; De Lorenzis, Alessandro; Magnani, Ilenia; Rotunno, Mariangela; Ballerini, Alberto; Lo Russo, Gerardo Vito; Nardi, Elena; Galiè, Nazzareno; Palazzini, Massimilian

Geographical heterogeneity of clinical and serological phenotypes of systemic sclerosis observed at tertiary referral centres. The experience of the Italian SIR-SPRING registry and review of the world literature

Introduction: Systemic sclerosis (SSc) is characterized by a complex etiopathogenesis encompassing both host genetic and environmental -infectious/toxic- factors responsible for altered fibrogenesis and diffuse microangiopathy. A wide spectrum of clinical phenotypes may be observed in patients' populations from different geographical areas. We investigated the prevalence of specific clinical and serological phenotypes in patients with definite SSc enrolled at tertiary referral centres in different Italian geographical macro-areas. The observed findings were compared with those reported in the world literature.Materials and methods: The clinical features of 1538 patients (161 M, 10.5%; mean age 59.8 +/- 26.9 yrs.; mean disease duration 8.9 +/- 7.7 yrs) with definite SSc recruited in 38 tertiary referral centres of the SPRING (Systemic sclerosis Progression INvestiGation Group) registry promoted by Italian Society of Rheumatology (SIR) were obtained and clustered according to Italian geographical macroareas.Results: Patients living in Southern Italy were characterized by more severe clinical and/or serological SSc phenotypes compared to those in Northern and Central Italy; namely, they show increased percentages of diffuse cutaneous SSc, digital ulcers, sicca syndrome, muscle involvement, arthritis, cardiopulmonary symptoms, interstitial lung involvement at HRCT, as well increased prevalence of serum anti-Scl70 autoantibodies. In the same SSc population immunusppressive drugs were frequently employed. The review of the literature underlined the geographical heterogeneity of SSc phenotypes, even if the observed findings are scarcely comparable due to the variability of methodological approaches.Conclusion: The phenotypical differences among SSc patients' subgroups from Italian macro-areas might be correlated to genetic/environmental co-factors, and possibly to a not equally distributed national network of information and healthcare facilities

Clinical and Polygraphic Improvement of Breathing Abnormalities After Valproate in a Case of Pitt-Hopkins Syndrome.

Pitt-Hopkins syndrome is a rare genetic form of severe psychomotor delay, caused by mutations in transcription cell factor-4 gene and characterized by distinctive dysmorphic features and abnormal breathing pattern. The current report describes the polygraphic features of the syndrome's typical breathing pattern in a patient both in wakefulness and in sleep. The control of these breathing alterations is important to prevent the neurological sequelae linked to chronic cerebral hypoxemia in early ages. No data are available on effective treatment options for breathing abnormalities of Pitt-Hopkins syndrome. The authors polygraphically documented a reduction of apneic and hypopneic phenomena, with a significant improvement in saturation values, after the introduction of sodium valproate

Pulmonary Arterial Hypertension Associated with Portal Hypertension and HIV Infection: Comparative Characteristics and Prognostic Predictors

Background: Pulmonary arterial hypertension (PAH) may complicate both portal hypertension (Po-PAH) and HIV infection (HIV-PAH). These two conditions, however, frequently coexist in the same patient (HIV/Po-PAH). We evaluated clinical, functional, hemodynamic characteristics and prognostic parameters of these three groups of patients.Methods: We included patients with Po-PAH, HIV-PAH and HIV/Po-PAH referred to a single center. We compared clinical, functional and hemodynamic parameters, severity of liver disease [Child-Turcotte-Pugh (CTP) and Model for End-stage Liver Disease-Na (MELD-Na) scores], CD4 count and highly active antiretroviral therapy (HAART) administration. Prognostic variables were identified through Cox-regression analysis.Results: Patients with Po-PAH (n = 128) were the oldest, patients with HIV-PAH (n = 41) had the worst hemodynamic profile and patients with HIV/Po-PAH (n = 35) had the best exercise capacity. Independent predictors of mortality were age and CTP score for Po-PAH, HAART administration for HIV-PAH, MELD-Na score and hepatic venous-portal gradient for HIV/Po-PAH.Conclusions: Patients with HIV/Po-PAH are younger and have a better exercise capacity than patients with Po-PAH, have a better exercise capacity and hemodynamic profile compared to patients with HIV-PAH, and their prognosis seems to be related to the hepatic disease rather than to HIV infection. The prognosis of patients with Po-PAH and HIV-PAH seems to be related to the underlying disease

Cardiopulmonary hemodynamics and c-reactive protein as prognostic indicators in compensated and decompensated cirrhosis

The main stages of cirrhosis (compensated and decompensated) have been substaged based on clinical, endoscopic, and portal pressure (determined by the hepatic venous pressure gradient, HVPG) features. Vasodilatation leading to a hyperdynamic circulatory state is central in the development of a late decompensated stage with inflammation being currently considered a key driver. We aimed to assess hepatic/systemic hemodynamics and inflammation (by C reactive protein, CRP) among the different substages of cirrhosis and to investigate their interrelationship and prognostic relevance

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis

Neurological and Mental Health Symptoms Associated with Post-COVID-19 Disability in a Sample of Patients Discharged from a COVID-19 Ward: A Secondary Analysis

Recent studies suggest that COVID-19 survivors may experience long-term health consequences: in particular, neurological and mental health symptoms might be associated with long-term negative outcomes. This study is a secondary analysis of a larger cohort study and aims to determine the extent to which neurological and mental health sequelae are associated with survivors’ disability. Participants include COVID-19 survivors, with no pre-morbid brain conditions, who were discharged from the COVID-19 Unit of the ASST Spedali Civili Hospital between February and April 2020. At an average of 3.5 months after discharge, they were submitted to a neurological examination and completed the WHO Disability Assessment Schedule (WHODAS-12), the Hospital Anxiety and Depression Score, the Pittsburgh Sleep Quality Index and the Montreal Cognitive Assessment. Multivariable regression analysis was carried out to analyze variables that explain WHODAS-12 variation. In total, 83 patients (63 males, average age 66.9, 95% CI: 64.2–69.7) were enrolled; average WHODAS-12 was 13.2 (95% CI: 9.7–16.6). Cognitive dysfunction, anxiety, fatigue, and hyposmia/hypogeusia explained 28.8% of WHODAS-12 variation. These findings underline the importance and need for longitudinal follow-up assessments after recovery from COVID-19 and suggest the need for early rehabilitation of residual symptoms to enhance patients’ functioning

Echocardiographic Markers in the Diagnosis of Cardiac Masses

Background: The echocardiographic parameters required for a comprehensive assessment of cardiac masses (CMs) are still largely unknown. The aim of this study was to identify and integrate the echocardio-graphic features of CMs that can accurately predict malignancy.Methods: An observational cohort study was conducted among 286 consecutive patients who underwent standard echocardiographic assessment for suspected CM at Bologna University Hospital between 2004 and 2022. A definitive diagnosis was achieved by histologic examination or, in the case of cardiac thrombi, with radiologic evidence of thrombus resolution after appropriate anticoagulant treatment. Logistic and multi -variable regression analysis was performed to confirm the ability of six echocardiographic parameters to discriminate malignant from benign masses. The unweighted count of these parameters was used as a numeric score, ranging from 0 to 6, with a cutoff of >= 3 balancing sensitivity and specificity with respect to the histologic diagnosis of malignancy. Classification tree analysis was used to determine the ability of echo -cardiographic parameters to discriminate subgroups of patients with differential risk for malignancy.Results: Benign masses were more frequently pedunculated, mobile, and adherent to the interatrial septum (P < .001). Malignant masses showed a greater diameter and exhibited a higher frequency of irregular margins, an inhomogeneous appearance, sessile implantation, polylobate shape, and pericardial effusion (P < .001). Infiltration, moderate to severe pericardial effusion, nonleft localization, sessile implantation, polylobate shape, and inhomogeneity were confirmed to be independent predictors of malignancy in both univariate and multivariable models. The predictive ability of the unweighted score of >= 3 was very high (>0.90) and similar to that of the previously published weighted score. Classification tree analysis generated an algorithm in which infiltration was the best discriminator of malignancy, followed by nonleft localization and sessile im-plantation. The percentage correctly classified by classification tree analysis as malignant was 87.5%. Agree-ment between observer readings and CM histology ranged between 85.1% and 91.5%. The presence of at least three echocardiographic parameters was associated with lower survival. Conclusions: In the approach to CMs, some echocardiographic parameters can serve as markers to accu-rately predict malignancy, thereby informing the need for second-level investigations and minimizing the diag-nostic delay in such a complex clinical scenario. (J Am Soc Echocardiogr 2023;36:464-73.

"Delirium Day": A nationwide point prevalence study of delirium in older hospitalized patients using an easy standardized diagnostic tool

Background: To date, delirium prevalence in adult acute hospital populations has been estimated generally from pooled findings of single-center studies and/or among specific patient populations. Furthermore, the number of participants in these studies has not exceeded a few hundred. To overcome these limitations, we have determined, in a multicenter study, the prevalence of delirium over a single day among a large population of patients admitted to acute and rehabilitation hospital wards in Italy. Methods: This is a point prevalence study (called "Delirium Day") including 1867 older patients (aged 65 years or more) across 108 acute and 12 rehabilitation wards in Italian hospitals. Delirium was assessed on the same day in all patients using the 4AT, a validated and briefly administered tool which does not require training. We also collected data regarding motoric subtypes of delirium, functional and nutritional status, dementia, comorbidity, medications, feeding tubes, peripheral venous and urinary catheters, and physical restraints. Results: The mean sample age was 82.0 ± 7.5 years (58 % female). Overall, 429 patients (22.9 %) had delirium. Hypoactive was the commonest subtype (132/344 patients, 38.5 %), followed by mixed, hyperactive, and nonmotoric delirium. The prevalence was highest in Neurology (28.5 %) and Geriatrics (24.7 %), lowest in Rehabilitation (14.0 %), and intermediate in Orthopedic (20.6 %) and Internal Medicine wards (21.4 %). In a multivariable logistic regression, age (odds ratio [OR] 1.03, 95 % confidence interval [CI] 1.01-1.05), Activities of Daily Living dependence (OR 1.19, 95 % CI 1.12-1.27), dementia (OR 3.25, 95 % CI 2.41-4.38), malnutrition (OR 2.01, 95 % CI 1.29-3.14), and use of antipsychotics (OR 2.03, 95 % CI 1.45-2.82), feeding tubes (OR 2.51, 95 % CI 1.11-5.66), peripheral venous catheters (OR 1.41, 95 % CI 1.06-1.87), urinary catheters (OR 1.73, 95 % CI 1.30-2.29), and physical restraints (OR 1.84, 95 % CI 1.40-2.40) were associated with delirium. Admission to Neurology wards was also associated with delirium (OR 2.00, 95 % CI 1.29-3.14), while admission to other settings was not. Conclusions: Delirium occurred in more than one out of five patients in acute and rehabilitation hospital wards. Prevalence was highest in Neurology and lowest in Rehabilitation divisions. The "Delirium Day" project might become a useful method to assess delirium across hospital settings and a benchmarking platform for future surveys