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Iskalni niz: "ključne besede" (H syndrome) .

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Dietary acid load but not Mediterranean diet adherence score is associated with metabolic and cardiovascular health state : ǂa ǂpopulation observational study from Northern Italy
Juana Maria Sanz, Domenico Sergi, Simona Colombari, Eleonora Capatti, Roberta Situlin, Gianni Biolo, Filippo Giorgio Di Girolamo, Stefano Lazzer, Boštjan Šimunič, Rado Pišot, Angelina Passaro, 2022, izvirni znanstveni članek

Povzetek: Diet plays a pivotal role in shaping the trajectory of chronic diseases. In this regard, the Mediterranean diet has been widely shown to exert beneficial effects on cardiometabolic health. On the contrary, the Western diet, which has also been reported to be an acidogenic dietary pattern, elicits detrimental effects on both metabolic and cardiovascular (CV) health. However, the role of dietary acid load (DAL) as a predictor of cardiometabolic prognosis remains to be elucidated. Thus, this study aims to compare Mediterranean diet adherence (MDA) and DAL focusing on their relationship with metabolic and CV prognosis. A total of 448 individuals aged 55–80 years were grouped depending on their MDA, assessed using food frequency questionnaires, or DAL, evaluated using potential renal load acid (PRAL) and net-endogenous acid production (NEAP). Study participants underwent anthropometric and biochemical measurements. The metabolic syndrome (MetS) prevalence was evaluated according to the National Cholesterol Education Program-Adult Treatment Panel III. Finally, the CV risk was evaluated using three independent algorithms: atherosclerotic cardiovascular disease (ASCVD), European Systematic COronary Risk Evaluation (SCORE), and Cuore risk scores. Mediterranean diet adherence was negatively associated with PRAL and NEAP. Individuals in the higher MDA tertile group had higher HDL cholesterol as well as lower homeostasis model assessment index (HOMA-IR) and fat mass relative to the lowest MDA tertile. However, in the high-MDA tertile group, there was neither a significantly lower MetS prevalence nor CV risk. Instead, both the MetS prevalence and CV risk were higher in individuals in the higher acid PRAL quartile relative to the lower alkaline PRAL quartile. Dietary acid load, especially assessed using PRAL but not MDA, was associated with indices of metabolic and CV prognosis. Thus, DAL assessed by 24-h dietary recalls may represent a better predictor of cardiometabolic health if compared to MDA evaluated using food frequency questionnaires.
Ključne besede: Mediterranean diet, dietary acid load, alkaline diet, acidic diet, metabolic syndrome, cradiovascular risk score
Objavljeno v DiRROS: 19.05.2022; Ogledov: 113; Prenosov: 91
.pdf Celotno besedilo (522,54 KB)
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Hereditary systemic autoinflammatory diseases and Schnitzler's syndrome
Mark Kačar, Shelly Pathak, Sinisa Savic, 2019, pregledni znanstveni članek

Povzetek: The systemic autoinflammatory diseases are disorders of the innate immune system distinguished by severe inflammation resulting from dysregulation of the innate immune system. Hereditary fever syndromes, such as FMF, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes and mevalonate kinase deficiency, were the first group of systemic autoinflammatory diseases for which a genetic basis was established, between 1999 and 2001. Currently according to the latest report of the international union of immunological societies, 37 separate monogenic disorders were classified as autoinflammatory. In addition to the abovementioned monogenic conditions, we describe Schnitzler's syndrome, a well-defined, acquired autoinflammatory condition without a clear genetic basis. For the purposes of this review, we discuss several conditions defined by the latest consensus process as systemic autoinflammatory diseases. We focus on those disorders where recent studies have contributed to further phenotypic characterization or had an impact on clinical management.
Ključne besede: pyrin, Schnitzler syndrome, haploinsufficiency, autoinflammatory diseases, pyrin-associated autoinflammatory diseases, NLRP3-related autoinflammatory diseases, undifferentiated systemic autoinflammatory disease, relopathies
Objavljeno v DiRROS: 08.04.2021; Ogledov: 722; Prenosov: 533
.pdf Celotno besedilo (455,31 KB)
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Evidence of B cell clonality and investigation into properties of the IgM in patients with Schnitzler syndrome
Shelly Pathak, Dorota Rowczenio, Samuel Lara-Reyna, Mark Kačar, Roger Owen, Gina Doody, Karoline Krause, Helen J Lachmann, Rainer Doffinger, Darren Newton, Sinisa Savic, 2020, izvirni znanstveni članek

Povzetek: The Schnitzler Syndrome (SchS) is an acquired, autoinflammatory condition successfully treated with IL-1 inhibition. The two main defining features of this late-onset condition are neutrophilic urticarial dermatoses (NUD) and the presence of an IgM monoclonal component. While the former aspect has been extensively studied in this disease setting, the enigmatic paraproteinaemia and its potential consequential effects within SchS, has not previously been thoroughly addressed. Previous studies analyzing clonal B cell repertoires have largely focused on autoimmune disorders such as Systemic Lupus Erythematous (SLE) and hematological malignancies such as Chronic Lymphocytic Leukaemia (CLL), where B-cell clonality is central to disease pathology. The present study uses next-generation sequencing to provide detailed insight into aspects of B cell VDJ recombination and properties of the resulting immunoglobulin chains. An overview of IgH regional dynamics in 10 SchS patients, with a particular focus on CDR3 sequences and VDJ gene usage is reported, highlighting the presence of specific B cell expansions. Protein microarray detected a substantial proportion of autoreactive IgM to nuclear target proteins, though a single universal target was not identified. Together, these genetic and functional findings impart new understanding into this rare disorder.
Ključne besede: Schnitzler syndrome, B-lymhocytes, paraproteinemias, pararoteins, immunoglobulin M, autoinflammatory diseases, IgM
Objavljeno v DiRROS: 08.04.2021; Ogledov: 668; Prenosov: 409
.pdf Celotno besedilo (1003,75 KB)
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Identification of critical transcriptomic signaling pathways in patients with H syndrome and Rosai-Dorfman disease
Samuel Lara-Reyna, James A. Poulter, Elton J.R. Vasconcelos, Mark Kačar, Michael F. McDermott, Reuben Tooze, Rainer Doffinger, Sinisa Savic, 2021, izvirni znanstveni članek

Povzetek: Biallelic mutations in SLC29A3 cause histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome (HS). HS is a complex disorder, with ~ 25% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with infiltrating CD68+, S100+, and CD1a[minus] histiocytes, resembling the immunophenotype found in Rosai-Dorfman disease (RDD). We investigated the transcriptomic profiles of monocytes, non-activated (M0), classically activated (M1), and alternatively activated macrophages (M2) in two patients with HS, one without autoinflammatory (HS1) and one with autoinflammatory complications (HS2). RNA sequencing revealed a dysregulated transcriptomic profile in both HS patients compared to healthy controls (HC). HS2, when compared to HS1, had several differentially expressed genes, including genes associated with lymphocytic-histiocytic predominance (e.g. NINL) and chronic immune activation (e.g. B2M). The transcriptomic and cytokine profiles of HS patients were comparable to patients with SAID with high levels of TNF. SERPINA1 gene expression was found to be upregulated in all patients studied. Moreover, higher levels of IFN[gamma] were found in the serum of both HS patients when compared to HC. Gene ontology (GO) enrichment analysis of the DEGs in HS patients revealed the terms "type I IFN," "IFN[gamma] signaling pathway," and "immune responses" as the top 3 most significant terms for monocytes. Gene expression analysis of lymph node biopsies from sporadic and H syndrome-associated RDD suggests common underlying pathological process. In conclusion, monocytes and macrophages from both HS patients showed transcriptomic profiles similar to SAIDs and also uniquely upregulated IFN[gamma] signature. These findings may help find better therapeutic options for this rare disorder.
Ključne besede: interferon-gamma, H syndrome, systemic autoinflammatory disease
Objavljeno v DiRROS: 08.04.2021; Ogledov: 662; Prenosov: 282
.pdf Celotno besedilo (7,43 MB)

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Cold urticaria : what we know and what we do not know
Natalya Maltseva, Elena Borzova, Daria Fomina, Mojca Bizjak, Dorothea Terhorst, Mitja Košnik, Kanokvalai Kulthanan, Raisa Meshkova, Simon Francis Thomsen, Marcus Maurer, 2020, izvirni znanstveni članek

Povzetek: Cold urticaria (ColdU) is a common form of chronic inducible urticaria characterised by the development of wheals, angioedema or both in response to cold exposure. Recent research and guideline updates have advanced our understanding and management of ColdU. Today, its pathophysiology is thought to involve the cold-induced formation of autoallergens and IgE to these autoallergens, which provoke a release of proinflammatory mediators from skin mast cells. The classification of ColdU includes typical and atypical subtypes. We know that cold-induced wheals usually develop on rewarming and resolve within an hour and that anaphylaxis can occur. The diagnosis relies on the patient's history and cold stimulation testing. Additional diagnostic work-up, including a search for underlying infections, should only be done if indicated by the patient's history. The management of ColdU includes cold avoidance, the regular use of nonsedating antihistamines, and the off-label use of omalizumab. However, many questions regarding ColdU remain unanswered. Here, we review what is known about ColdU, and we present important unanswered questions on the epidemiology, underlying pathomechanisms, clinical heterogeneity and treatment outcomes. Our aim is to guide future efforts that will close these knowledge gaps and advance the management of ColdU.
Ključne besede: urticaria, cryopyrin-associated periodic syndromes, cold-induced urticaria, familial cold autoinflammatory syndrome, cold stimulation testing, wheals, cryoglobulinemic vasculitis, cryoglobulins
Objavljeno v DiRROS: 14.12.2020; Ogledov: 776; Prenosov: 217
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