Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.

Background: Genetic diagnosis of inborn errors of immunity (IEI) is complex due to the large number of genes involved and their molecular features. Missense variants have been reported as the most common cause of IEI. However, the frequency of copy number variants (CNVs) may be underestimated since their detection requires specific quantitative techniques.

Predicting anti-TNF treatment response in rheumatoid arthritis: An artificial intelligence-driven model using cytokine profile and routine clinical practice parameters.

Introduction: Rheumatoid arthritis (RA) is a heterogeneous disease in which therapeutic strategies used have evolved dramatically. Despite significant progress in treatment strategies such as the development of anti-TNF drugs, it is still not possible to differentiate those patients who will respond from who will not. This can lead to effective-treatment delays and unnecessary costs.

Ultra-short celiac disease exhibits differential genetic and immunophenotypic features compared to conventional celiac disease.

Background: Ultra-short coeliac disease (USCD) is a novel celiac disease (CD) subtype limited to the duodenal bulb (D1). HLA haplotypes and flow cytometry have not been assessed yet.

Aims: To compare genetic, clinical, serologic, histopathologic and inmmunophenotypic parameters between USCD and conventional celiac disease (CCD) patients.

Role of Inflammatory Cytokines in the Conversion of Mild Cognitive Impairment to Dementia: A Prospective Study.

Background: The effect that cytokines can exert on the progression from mild cognitive impairment (MCI) to ongoing dementia is a matter of debate and the results obtained so far are controversial.

Objective: The aim of the study is to analyze the influence of markers of subclinical inflammation on the progression of MCI to dementia.

Methods: A prospective study involving a cohort of patients ≥ 65 years of age diagnosed with MCI and followed for 3 years was conducted.

Cytokine Profile in Children with Severe Multisystem Inflammatory Syndrome Related to the Coronavirus Disease 2019.

The multisystem inflammatory syndrome in children (MIS-C) is a novel and concerning entity related to severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection. Although MIS-C has been the subject of intensive research efforts, its pathophysiology and optimal treatment remain elusive. We studied the clinical features, laboratory findings, and immunoinflammatory profiles of seven children prospectively admitted to a pediatric intensive care unit (PICU) during the first wave of the pandemic.

A Case of Immediate Hypersensitivity Reaction to Maltitol.

Background: Maltitol is a sugar alcohol that is frequently used as a noncaloric sweetener, although it is also used as an excipient, a plasticizer in gelatin capsules, and an emollient. It has not been previously described as an agent involved in immediate hypersensitivity reactions.

Methods: We report on an anaphylactoid reaction with pharyngeal occlusion suffered by a 60-year-old man after ingestion of a candy containing maltitol syrup.

Short-, Intermediate-, and Long-Term Changes in Basophil Reactivity Induced by Venom Immunotherapy.

Purpose: The basophil activation test (BAT) has been used to monitor venom immunotherapy (VIT) due to its high specificity. A previous study has reported a good correlation between a significant decrease in basophil activation during 5 years of VIT and clinical protection assessed by sting challenge. The following prospective study was performed to examine changes in basophil reactivity over a complete VIT period of 5 years.

Association of vascular factors and amnestic mild cognitive impairment: a comprehensive approach.

Background And Objective: Current evidence shows that numerous classic vascular risk factors (VRF) contribute to mild cognitive impairment (MCI), but the effects of emerging VRFs are less well-known. Using a comprehensive approach, we assessed the frequency and strength of association between MCI and classic VRFs, subclinical markers of atherosclerosis (cystatin C, lipoprotein(a), high-sensitivity C-reactive protein, and intima-media thickness) and white matter hyperintensities (WMH).

Methods: In this case-control study of consecutive MCI patients and cognitively normal controls, subjects underwent clinical and neuropsychological examinations, laboratory analyses, a carotid duplex scan, and a brain magnetic resonance imaging scan.

Basophil activation test for the in vitro diagnosis of nonsteroidal anti-inflammatory drug hypersensitivity.

There is need for an in vitro diagnostic test for hypersensitivity to nonsteroidal anti-inflammatory drugs (NSAIDs). The purpose of this study was to assess the reliability of one such diagnostic, the basophil activation test. Forty-three drug hypersensitive patients referring several immediate reactions (anaphylaxis, urticaria, angioedema, asthma, and rhinoconjunctivitis) to one or more NSAIDs and 29 controls participated.

[Effects of atorvastatin in N-terminal pro-brain natriuretic peptide plasma levels in hypercholesterolemic patients with or without hypertension].

Background And Objective: N-terminal pro-brain natriuretic peptide (NT-proBNP) is a useful predictor of cardiovascular events in patients without clinical evidence of cardiovascular disease. It is unknown if the cardiovascular risk factors control can modify these levels. We studied if atorvastatin treatment decrease NT-proBNP levels in hypercholesterolemic subjects, with and without hypertension.

Anaphylaxis caused by cloxacillin: diagnosis with seriated analysis by way of basophil activation test.

We report a case of anaphylaxis caused by cloxacillin in a 13-year-old patient. The basophil activation test, performed 25 days after the anaphylactic reaction, was positive to cloxacillin, amoxicillin, and penicillin G and negative to ibuprofen, tolerated by the patient. The analysis was performed 17 days after the reaction was not conclusive because 74% of the basophil population was activated in basal conditions.