Clinical pitfalls of leishmaniasis and Whipple’s disease hidden behind systemic lupus erythematosus: A case series

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease that can affect major organs possibly leading to life-threatening complications and appears with heterogeneous clinical picture. SLE could present with broad spectrum of clinical and laboratory features that can resemble those of other diseases, such as hemopoietic malignancies, infections, or immune-mediated disorders. Its complexity and protean features overlap with many other diseases, hindering the differential diagnosis. Rarely, true overlap with other diseases may occur. Herein, we report a case series of two patients affected by infectious diseases, namely visceral leishmaniasis and Whipple’s disease (WD), intertwined with clinical or serological features of SLE. In both cases, several confounding factors have led to a delay in the diagnosis. Moreover, we first describe the persistent elevation of autoantibodies and a monoclonal gammopathy in a patient with WD. Awareness of unusual presentations of infections or other rare disorders, which may be encountered in clinical practice when taking care of SLE patients, is essential for timely diagnosis and treatment of potentially lethal diseases

Genetic loci linked to Type 1 Diabetes and Multiple Sclerosis families in Sardinia

<p>Abstract</p> <p>Background</p> <p>The Mediterranean island of Sardinia has a strikingly high incidence of the autoimmune disorders Type 1 Diabetes (T1D) and Multiple Sclerosis (MS). Furthermore, the two diseases tend to be co-inherited in the same individuals and in the same families. These observations suggest that some unknown autoimmunity variant with relevant effect size could be fairly common in this founder population and could be detected using linkage analysis.</p> <p>Methods</p> <p>To search for T1D and MS loci as well as any that predispose to both diseases, we performed a whole genome linkage scan, sequentially genotyping 593 microsatellite marker loci in 954 individuals distributed in 175 Sardinian families. In total, 413 patients were studied; 285 with T1D, 116 with MS and 12 with both disorders. Model-free linkage analysis was performed on the genotyped samples using the Kong and Cox logarithm of odds (LOD) score statistic.</p> <p>Results</p> <p>In T1D, aside from the HLA locus, we found four regions showing a lod-score ≥1; 1p31.1, 6q26, 10q21.2 and 22q11.22. In MS we found three regions showing a lod-score ≥1; 1q42.2, 18p11.21 and 20p12.3. In the combined T1D-MS scan for shared autoimmunity loci, four regions showed a LOD >1, including 6q26, 10q21.2, 20p12.3 and 22q11.22. When we typed more markers in these intervals we obtained suggestive evidence of linkage in the T1D scan at 10q21.2 (LOD = 2.1), in the MS scan at 1q42.2 (LOD = 2.5) and at 18p11.22 (LOD = 2.6). When all T1D and MS families were analysed jointly we obtained suggestive evidence in two regions: at 10q21.1 (LOD score = 2.3) and at 20p12.3 (LOD score = 2.5).</p> <p>Conclusion</p> <p>This suggestive evidence of linkage with T1D, MS and both diseases indicates critical chromosome intervals to be followed up in downstream association studies.</p

Olfactory Function Is Impaired in Patients with Mastocytosis

Background: Mastocytosis is a clinically heterogeneous disorder associated to abnormal mast cell accumulation in different organs. No data are available as regards the assessment of olfactory unction and its association with mastocytosis. Objective: The aim of the study was first to investigate odor threshold, discrimination and identification in mastocytosis patients (MP) compared to age-matched healthy controls (HC); furthermore, to correlate olfactory function with the other clinical symptoms of mastocytosis. Methods: Eighty-one participants were enrolled: 41 patients with mastocytosis (23 males and 18 females, mean age 47.95 years, SD 14.7) were compared to 40 healthy controls (23 males and 17 females, mean age 47.88 years, SD 14.6). Olfactory function among participants was evaluated using the “Sniffin’ Sticks” test for odor detection threshold (OT), odor discrimination (OD) and odor identification (OI). Results: Patients with systemic mastocytosis showed a significant decrease in the total olfactory function (TDI score), OT, OD and OI compared to healthy controls. A significant negative correlation was observed only between TDI score and serum tryptase concentration (μg/L). No correlation was observed between disease duration versus OT, OD, OI and TDI score. Conclusions: Our results suggest that the olfactory function is impaired in patients compared to healthy controls; a significant negative correlation was found between TDI score and the level of serum tryptase. Olfactory dysfunction in mastocytosis may be considered among the clinical manifestations contributing to the burden of this disease

Evaluation of olfactory function as a potential biomarker in patients with mastocytosis

Background: Mastocytosis is a clonal disease characterized by an accumulation of mastcells in various organs, such as skin, bones, lymph nodes, liver, spleen, peripheral and central nervous system, gastrointestinal and nose-pharyngeal tract. The serum tryptase, an enzyme produced almost exclusively by mastcells is considered as a biomarker. The serum concentration of tryptase can therefore be considered a quantitative sign and an indicator of activity of the organism's mast cells. The aim of the study was first to investigate odor threshold (OT), odor discrimination (OD) and odor identification (OI) in mastocytosis patients (MP) compared to age matches healthy controls (HC), then to correlate olfactory function with, serum tryptase. Method: Eighty subjects were enrolled in this study (40 patients with mastocytosis, 18 women and 22 men, mean age 47.9, SD 14.4 and 40 healthy controls, 16 women and 24 men 47.9, SD 14.7). OT, OD, OI and their sum TDI score were evaluated using the psychophysical Sniffin’ Sticks. The Montreal Cognitive Assessment (MoCA) was used to assess cognitive ability. One way between groups Multivariate analyses of variance (MANOVA) was carried out to assess the impact of olfactory function on the mastocytosis. Results: Among MP group, 10 (25%) reported normosmia, one patient functional anosmia and the remaining showed hyposmia. Our results indicated a statistical significant differences between the two groups (MP and HC) for the olfactory function and the MoCA [F(5,74)=504.7, p&lt;0.0005, Wilks' Lambda =0.03, partial η2=0.972]. The analyses of each individual dependent variable, using Bonferroni adjusted alpha level showed significant differences between two groups for OT [F(1,78)=866.6, p&lt;0.0005, partial η2=0.917], OD [F(1,78)=76.6, p&lt;0.005, partial η2=0.495], for TDI [F(1,78)=379.6, p&lt;0.005, partial η2=0.830] and for MoCA [F(1,78)=146.3, p&lt;0.005, partial η2=0.652]. Instead, no statistical significant difference was found for OI [F(1,78)=0.62, p&gt;0.05, partial η2=0.008]. Significant negative correlation was observed between the TDI versus serum tryptase (r=-0.398, p&lt;0.05). Conclusion: Our data suggest that olfactory dysfunction could represent a potential biomarker to be more extensively evaluated for an early diagnosis of Mastocytosis

Quale presa in carico territoriale dell'asma grave?

Il presente lavoro nasce dagli “Asthma Talks” un percorso di formazione innovativo che ha favorito il confronto tra la comunità di professionisti dedicati alla gestione dell’asma grave e i docenti SDA Bocconi. Il contributo offre alcune proposte concrete sul management dell’assistenza sanitaria per i pazienti con asma grave, concentrate su tre macro temi che stanno alimentando il dibattito sul management dei servizi sanitari e le scelte sulle politiche di tutela della salute, anche alla luce dell’esperienza pandemica e del PNRR. L’ambizione è quella di offrire una configurazione di base di soluzioni condivise sul piano professionale, se si considerano i processi elaborativi, calibrate rispetto alle sfide che puntualmente i decisori e i manager stanno affrontando, considerando un target di pazienti specifici, quali quelli affetti da asma grave. Dai contributi emerge la generalizzabilità di alcune soluzioni manageriali che, seppur pensate per questa popolazione di pazienti, si prestano a dare risposta a un quadro molto più ampio di condizioni di salute

Exercise-induced anaphylaxis with an Ayurvedic drug as cofactor: A case report

The practice of Indian Ayurvedic medicine is spreading in Western countries and Shilajit is one of the most used drugs, for its antioxidant activities and immunomodulatory effects. Albeit Shilajit has showed a high degree of safety, it can act as cofactor of anaphylaxis, especially in condition at high risk, such as mast cell activation syndrome (MCAS). We reported this case to sensitize practitioners to investigate to the use of complementary and alternative medicine, in case of exercise-induced anaphylaxis (EIAn)

Severe asthma: One disease and multiple definitions

Introduction There is, so far, no universal definition of severe asthma. This definition usually relies on: number of exacerbations, inhaled therapy, need for oral corticosteroids, and respiratory function. The use of such parameters varies in the different definitions used. Thus, according to the parameters chosen, each patient may result in having severe asthma or not. The aim of this study was to evaluate how the choice of a specific definition of severe asthma can change the allocation of patients. Methods Data collected from the Severe Asthma Network Italy (SANI) registry were analyzed. All the patients included were then reclassified according to the definitions of U-BIOPRED, NICE, WHO, ATS/ERS, GINA, ENFUMOSA, and TENOR. Results 540 patients, were extracted from the SANI database. We observed that 462 (86%) met the ATS/ERS criteria as well as the GINA criteria, 259 (48%) the U-Biopred, 222 (41%) the NICE, 125 (23%) the WHO, 313 (58%) the Enfumosa, and 251 (46%) the TENOR criteria. The mean eosinophil value were similar in the ATS/ERS, U-Biopred, and Enfumosa (528, 532 and 516 cells/mcl), higher in WHO and Tenor (567 and 570 cells/mcl) and much higher in the NICE classification (624 cells/mcl). Lung function tests resulted similarly in all groups, with WHO (67%) and ATS/ERS-GINA (73%), respectively, showing the lower and upper mean FEV1 values. Conclusions The present observations clearly evidence the heterogeneity in the distribution of patients when different definitions of severe asthma are used. However, the recent definition of severe asthma, provided by the GINA document, is similar to that indicated in 2014 by ATS/ERS, allowing mirror reclassification of the patients examined. This lack of homogeneity could complicate the access to biological therapies. The definition provided by the GINA document, which reflects what suggested by ATS/ERS, could partially overcome the problem