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Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis
Lysosomal storage disorders (LSDs) are a group of inborn errors of metabolism resulting from defects in proteins crucial for lysosomal function [1]. Phenotypic expression is extremely variable and depends on the specific macromolecule accumulated, the production site, and the specific metabolite degradation. Gaucher disease, the most common autosomal recessive LSDs, is caused by a biallelic mutation in the GBA1 gene, which leads to the deficiency of beta-glucocerebrosidase (EC 3.2.1.45) and accumulation of glucosylceramide in the reticuloendothelial system [2].Current approaches for the diagnosis and management of immune thrombocytopenia
Immune thrombocytopenia (ITP), previously called idiopathic thrombocytopenic purpura, is an acquired autoimmune disorder characterized by the destruction of platelets and megakaryocytes, resulting in thrombocytopenia (platelet count <100 × 10⁹/L).Natural history of ‘silent’ atrial fibrillation from subclinical to asymptomatic: State of the art and need for research
In the last 30 years clinical research in the atrial fibrillation (AF) field has seen a great advance both in terms of productivity and heterogeneity of areas that developed significant new knowledge and evidence. Indeed, it is very easy to verify how in the last 3 decades the number of articles regarding AF registered in MEDLINE has increased exponentially overtime. This large amount of evidence led to significant changes in the guidelines, with an improvement of the overall quality of recommendations and an increase in the high-quality recommendations (despite being still generally low) [1,2].Autoimmune serology testing in clinical practice: An updated roadmap for the diagnosis of autoimmune hepatitis
The diagnosis of autoimmune hepatitis (AIH) is based on a combination of clinical, laboratory and histological findings in patients with unexplained acute or chronic hepatitis [1–3]. The disease is considered rare but recent population-based studies from England and New Zealand have shown that AIH incidence is on the rise [4,5]. As in most autoimmune diseases, AIH is characterized by female predominance while every subject can be affected irrespective of age, gender, and ethnicity [6,7]. Differential diagnosis includes viral, toxic, genetic, and metabolic liver diseases [1–3,6].Airflow grades, outcome measures and response to pulmonary rehabilitation in individuals after an exacerbation of severe chronic obstructive pulmonary disease
Individuals with Chronic obstructive pulmonary disease (COPD) are staged according to symptoms and exacerbation (ECOPD) history, (Global Initiative for Chronic Obstructive Lung Disease (GOLD) groups A-D) and on airflow obstruction (GOLD airflow severity grades 1–4). [1]Liver fat accumulation more than fibrosis causes early liver dynamic dysfunction in patients with non-alcoholic fatty liver disease
Overweight and obesity trends are increasing worldwide, and represent a major health problem [1]. The increase in body fat is also associated with insulin resistance and diabetes [2]. In metabolically healthy subjects, the white adipose tissue in the subcutaneous district, rather than in the visceral district, is the main site storing triglycerides. Hepatocyte accumulation of triglycerides is usually low (i.e., ≤5%), and circulating long-chain fatty acids are readily incorporated into liver triglycerides or undergo mitochondrial oxidation.Giant cell arteritis: Update on clinical manifestations, diagnosis, and management
Giant cell arteritis (GCA) – previously known as Horton's disease or temporal arteritis – is the most common vasculitis affecting people older than 50 years [1]. GCA is characterized by granulomatous inflammation affecting large- and medium- sized arteries, leading to acute and chronic damage [2]. Apart from the clear-cut association with older age, other factors such as genetic variants in the major histocompatibility complex region, particularly the human leukocyte antigen DRB1*04:04, have been described to be related to the development of GCA [3].Angiopoietins, vascular endothelial growth factors and secretory phospholipase A2 in heart failure patients with preserved ejection fraction
Heart failure (HF) represents a growing public health burden with an estimated prevalence in Europe and United States ranging from 0.4% to 2% [1]. According to the 2021 European Society of Cardiology Guidelines, HF has been divided into three distinct phenotypes based on the assessment of left ventricular ejection fraction (EF): HF with reduced EF (HFrEF, with EF ≤ 40%), HF with mildly reduced EF (HFmrEF, 41 ≤ EF ≤ 49%) and HF with preserved EF (HFpEF, EF ≥ 50%) [2,3]. Patients with EF in the 40 - 50% range may benefit from similar therapies to those with HFrEF [4–6].Community-acquired pneumonia – An EFIM guideline critical appraisal adaptation for internists
Community-acquired pneumonia (CAP) is defined as an acute infection of the pulmonary parenchyma acquired outside the hospital and, is one of the most important causes of morbidity and mortality worldwide. According to The Global Burden of Disease Study, lower respiratory tract infections ranked 4th in terms of disability-adjusted life-years across all ages in 2019 and as a significant subset, CAP is the most frequent cause of death from infection in Europe [1,2]. Because the diagnosis is frequently made based on clinical and radiological findings and the microbial agent is not known most of the time, management of CAP can be challenging since no single antimicrobial regimen can cover all the possible causes.Proton pump inhibitors and the risk of cardiovascular events and cardiovascular mortality: A systematic review and meta-analysis of observational studies
Proton pump inhibitors (PPIs) are widely used to treat disorders characterized by excessive gastric acid production [1] and have been sold over-the-counter for more than one decade. Alongside, PPIs are used for gastroprotection in patients on dual antiplatelet therapy consisting of asprin in combination with a P2Y12 inhibitor such as clopidogrel, prasugrel or ticagrelor to prevent secondary myocardial infarctions and ischaemic strokes. Two different questions, therefore, arise regarding a potentially increased cardiovascular risk associated with PPI intake.Optimization of antimicrobial prescription in the hospital
Many obstacles in antimicrobial stewardship (AMS) are shared across high-income countries (HICs) and low and middle-income countries (LMICs). Some of the issues raised in a workshop by the American Thoracic Society on AMS in the Intensive Care Unit (ICU) [1] are universal and could be applied to many different settings: excessively larger-spectrum drugs are often prescribed due to the fear of not covering a specific pathogen with narrow-spectrum antibiotics while waiting on cultures; unnecessary therapy escalation often occurs when a new clinical event, such as fever or hypotension, manifests within hours of therapy initiation, at a time when treatment response did not had enough time to occur or when such events are due to other reasons.Angiographic and clinical outcome of SARS-CoV-2 positive patients with ST-segment elevation myocardial infarction undergoing primary angioplasty: A collaborative, individual patient data meta-analysis of six registry-based studies
Coronavirus disease 2019 (COVID-19) has strongly impacted on worldwide healthcare systems with significant resources diverted to deal with this unforeseeable modern pandemic. Several reports have described an increased cardiovascular mortality during the COVID-19 pandemic due to direct [1,2] and indirect effects of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection [3–8]. COVID-19 may induce oxygen supply/demand imbalance, abnormal systemic inflammatory response, atherosclerotic plaque rupture, overactivation of the coagulation system, and platelet hyperreactivity [1,2].Ultrafiltration in decompensated heart failure: Is time to look forward?
Heart failure (HF) is a chronic condition resulting in more than 1 million hospitalizations annually in both the United States and Europe [1]. Because the natural history of HF is characterised by disease progression and episodes of acute decompensation most of HF patients are admitted for decompensated chronic HF [1]. The vast majority of signs and symptoms of patients presenting with decompensated HF are caused by pulmonary and systemic congestion [1], the wet haemodynamic profile which reflects increased cardiac filling.Identification and management of acute alcohol intoxication
Alcohol is the oldest and most common psychoactive and addictive substance used in our society: it has been estimated that about 90% of people consume alcohol at some stage in their lives and up to 30% of them will develop alcohol-related disorders [1,2].Potential mechanisms of vaccine-induced thrombosis
COVID-19 has so deeply impacted in every aspect of the human existence that most of us in the next years will reconsider its life as “before” and “after” the pandemic. At the time of writing, more than 6 million COVID-19-related deaths have been reported by the World Health Organization (WHO) [1], although the data are likely to be largely underestimated.Incidence, risk factors, and evolution of venous thromboembolic events in patients diagnosed with pancreatic carcinoma and treated with chemotherapy on an outpatient basis
Venous thromboembolic disease is considered one of the leading causes of morbi-mortality [1,2]. in oncological patients. Cancer multiplies the risk of thromboembolic events 6- or 7-fold compared to the general population without cancer [3,4], and this risk is greater in certain tumor sites and in people receiving chemotherapy. The incidence of VTE in individuals with pancreatic cancer is high, although it varies widely in the literature [5–23] due, in part, to the differences in the populations studied.Different profiles of advanced heart failure among patients with and without diabetes mellitus. Findings from the EPICTER study
Heart failure (HF), the representative end-stage of most heart diseases, has a heterogeneous course that makes it difficult to know with certainty whether a patient is in the advanced stage of the disease [1]. In advanced HF, therapies such as cardiac resynchronization (CRT) or an implantable cardioverter defibrillator (ICD) may not be suitable or accepted due to disability, comorbidity, or the patient's preferences [2]. Despite improvements in treatment, advanced HF continues to have substantial morbidity and mortality.C-reactive protein and 10-year cardiovascular risk in rheumatoid arthritis
Rheumatoid arthritis (RA) is associated with an increased risk of cardiovascular disease compared with the general population [1]. The increased risk of cardiovascular disease in patients with RA is due to the composite effect of genetic predisposition, traditional cardiovascular risk factors, and the presence of chronic oxidative stress [2–4] and systemic pro-inflammatory state. Cardiovascular disease in RA population develops through multiple mechanisms, including accelerated endothelial dysfunction, early arterial stiffening, modifications of central hemodynamics, and premature atherosclerosis [5–7].Autoantibody positivity predicts severity of rheumatic immune-related adverse events to immune-checkpoint inhibitors
In the last decade, immune checkpoint inhibitors (ICIs) have become a therapeutic tool of paramount importance when managing malignancies. ICIs currently represent the standard of care for several advanced cancers [1]. Despite their remarkable efficacy, these agents are associated with the onset of peculiar clinical manifestations called immune-related adverse events (irAEs) [2].Renin-angiotensin-aldosterone inhibition in chronic heart failure: From theory into practice
Heart failure (HF) is an extremely relevant chronic disease impacting on quality of life and prognosis. Furthermore, the increasing prevalence of HF leads to a huge number of admissions and entails an important use of resources and healthcare costs [1]. For these reasons, the optimization of its management is crucial, including early diagnosis, pharmacological treatment, cardiac devices, HF community programmes, etc.IgA nephropathy with acute kidney disease: Characteristics, prognosis, and causes
The clinical manifestations and prognosis of IgA nephropathy (IgAN) are diverse. Some patients may present with kidney dysfunction lasting shorter than 3 months and meet the acute kidney disease (AKD) criteria. This study aimed to investigate the clinicopathological features, causes and prognosis of newly diagnosed cases of IgAN with AKD.Sudden death in young athletes: Is it preventable?
Sudden deaths in athletes (SDA) are rare but devastating events, with huge social impact and vast echo in the media. Elite athletes are contemporary icons epitomizing health and success, promoting positive lifestyles and penetrating the daily lives of fans and their families. Although SDA is a rare event, recent data suggests that it is probably more common than previously thought. Incidence estimation is limited by difficulties in identifying the cases (numerator), a condition shared with all other rare diseases, and in estimating the true number of athlete population (denominator).High risk of complications and mortality in cirrhotic patients with acute pancreatitis
Acute pancreatitis is one of the most common gastrointestinal diseases requiring acute hospital admission. Gallstones (50%) and alcohol (20%) are the most frequent underlying causes. Medication, endoscopic retrograde cholangiopancreaticography (ERCP), hypercalciemia, hypertriglyceridaemia, autoimmune pancratitis, infection, genetic mutations and trauma are responsible for the remaining 30%. In most patients, the disease has a mild and self-limiting course, but in approximately 20% moderate or severe pancreatitis develops, with (peri)pancreatic necrosis, organ failure, formation of collections, infectious complications and a substantial mortality.From mid-range to mildly reduced ejection fraction heart failure: A call to treat
The historical classification of heart failure (HF) has considered two distinct subgroups, HF with reduced ejection fraction (HFrEF), generally classified as EF below 40%, and HF with preserved ejection fraction (HFpEF) variably classified as EF above 40%, 45% or 50%. One of the principal reasons behind this distinction was related to presence of effective therapy in HFrEF, but not in HFpEF. Recently the expanding knowledge in the specific subgroup of patient with a LVEF between 41% and 49% and the potential benefit of new therapies and of those used in patients with LVEF below 40%, has led to rename this group as HF with mildly reduced EF (HFmrEF).Evolving concepts in the management of antithrombotic therapy in patients undergoing transcatheter aortic valve implantation
Transcatheter aortic valve implantation (TAVI) is an effective and less invasive treatment option compared with conventional surgical aortic valve replacement (SAVR), and is the standard of care for patients with severe aortic stenosis considered inoperable or at high surgical risk [1,2]. Currently, the indication for TAVI is shifting towards younger and lower risk patients [3–6]. Although TAVI techniques and the risk level of the treated population have improved over time, thromboembolic and bleeding complications are still frequent and negatively impact recovery and survival after TAVI.
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