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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].
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