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To investigate an influence of the currently changed etiologic structure of AA-amyloidosis on the diagnosis and treatment tactics.In 110 patients with АА-amyloidosis followed during full disease duration (1 month 29 years) etiology, clinical manyfestations and approaches to diagnose and treatment of AA-amyloidosis were evaluated. With ELISA levels of amyloid precursor acute phase inflammation reactant SAA and neutrophil activity marker S100A12 were measured.Among the most common causes of AA-amyloidosis at the present stage, in addition to RA (40.3%), a significant place is occupied by a group of diseases with a predominantly autoinflammatory mechanism (53.73%). To confirm the autoinflammatory mechanism of the predisposing disease it is recommended to study a highly sensitive parameter serum protein S100A12. An effective marker of the risk of AA-amyloidosis progression, especially in patients with subclinical activity of inflammatory disease, is a high level of production of amyloidogenic protein-a precursor of SAA.Цель. Изучить влияние изменившейся в настоящее время этиологической структуры АА-амилоидоза на тактику диагностики и лечения. Материалы и методы. У 110 больных АА-амилоидозом, прослеженных на протяжении всей длительности заболевания (1 мес 29 лет), изучены этиология, клинические проявления и подходы к диагностике АА-амилоидоза, методом твердофазного иммуноферментного анализа оценены уровни белка-предшественника амилоида и маркера острой фазы воспаления SAA, а также маркера активности нейтрофила S100A12. Результаты. Среди наиболее частых причин АА-амилоидоза на современном этапе кроме ревматоидного артрита (40,3%) существенное место занимает группа аутовоспалительных заболеваний, таких как периодическая болезнь, подагра, или заболеваний с преимущественно аутовоспалительным механизмом поражения (53,73%), например, болезнь Кастльмана. Для подтверждения аутовоспалительного механизма предрасполагающего заболевания рекомендуется исследовать высокочувствительный показатель сывороточный белок S100A12. Чувствительным маркером риска прогрессирования АА-амилоидоза, в особенности у больных с субклинической активностью воспалительного заболевания, является высокий уровень продукции амилоидогенного белка-предшественника SAA.

Brucellosis remains one of the main zoonoses worldwide. Epidemiological data on human brucellosis in Spain are scarce. The objective of this study was to assess the epidemiological characteristics of inpatient brucellosis in Spain between 1997 and 2015. A retrospective longitudinal descriptive study was performed. Data were requested from the Health Information Institute of the Ministry of Health and Equality, which provided us with the Minimum Basic Data Set of patients admitted to the National Health System. We also obtained data published in the System of Obligatory Notifiable Diseases. A total of 5598 cases were registered. The period incidence rate was 0.67 (95% CI 0.65–0.68) cases per 100 000 person-years. We observed a progressive decrease in the number of cases and annual incidence rates. A total of 3187 cases (56.9%) came from urban areas. The group most at risk comprised men around the fifth decade of life. The average (±s.d.) hospital stay was 12.6 days (±13.1). The overall lethality rate of the cohort was 1.5%. The number of inpatients diagnosed with brucellosis decreased exponentially. The group of patients with the highest risk of brucellosis in our study was males under 45 years of age and of urban origin. The lethality rate has reduced to minimum values. It is probable that hospital discharge records could be a good database for the epidemiological analysis of the hospital management of brucellosis and offer a better information collection system than the notifiable diseases system (EDO in Spanish).

WOS:000600134800008 PubMed: 33489555 Introduction and objective: This study aims at using sonoelastography as a novel technique to evaluate the stiffness and thickness of Achilles tendons in familial Mediterranean fever (FMF) patients. Methods: Achilles tendons of 26 FMF patients and 23 control subjects were assessed with ultrasound and real-Lime sonoelastography. The Achilles tendons were divided into the distal, middle, and proximal thirds for elastographic image evaluation. Tendons were classified into three main types according to their elasticity features: grade 1 blue (hardest tissue) to green (hard tissue); grade 2, yellow (soft tissue); and grade 3, red (softest tissue). Tendons of the groups were compared in terms of thickness and stiffness. Results: There were no significant differences in thickness and stiffness of the Achilles tendon between FMF patients and controls (p>0.05). Sonoelastography of Achilles tendons of FMF patients displayed no relationship between FMF and tendinopathy. Conclusion: This issue should be explored in prospective studies in larger groups.

The paper demonstrates current opportunities of effective management of periodic disease as an autoinflammatory disorder based on a clinical case of colchicine-resistant Mediterranean fever. We present modern approaches to the autoinflammation hypothesis and its molecular mechanisms in periodic disease. Based on literature and our own research results, we consider approaches to evaluate autoinflammation activity and to monitor treatment efficacy. Clinical value of S100A12, a novel marker of the activity of neutrophilic autoinflammation, is demonstrated.

Article, Neurology and clinical neuroscience. 6(6): 191-193 (2018)

The immune system is delegated to defend the body from attacks from outside or inside. Many diseases can affect immune system reducing its ability to defend self or inducing an abnormal response against external or internal antigens. Rare diseases affecting immune system present some issue in common with other rare diseases and some peculiarities due to the huge variability in the disease’s expression. However, a correct estimation of the epidemiology of rare disorders is necessary for evaluating the prognosis and the responses to new therapies, for planning proper public health services, and finally to establish fair and sustainable prices for innovative medicines. Due to the enormous number of different rare immunological diseases, in this chapter we are going to analyse some of them that can be considered paradigmatic of the various expressions of disease.

Background: Systemic-onset Juvenile Idiopathic Arthritis (SoJIA) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. Despite, the main genetic factors that may play a role in SoJIA have not yet been identified. High level of interleukin-1beta in the blood of SoJIA patients has been reported. The production and secretion of IL-1 β is related to pyrin coded by mediterranean fever gene (MEFV gene). Therefore, mutation in MEFV may be associated with SoJIA diseases. This study aimed to identify the association between R202Q mutation in exon 2 of MEFV gene and SoJIA disease. Materials and Methods: This study was done in 30 SoJIA patients and 30 controls. DNA was extracted from blood cells and analyzed by RFLP-PCR. The PCR product was digested with PvuII and then separated by gel electrophoresis.Results: R202Q mutation was found in 3.3% of control and 43.3% of patient group. Significant statistical differences were observed between cases and controls in the R202Q mutation. Conclusion: The present study showed that the mutation in MEFV gene is a susceptible factor in development of SoJIA disease in Iranian patients.

The aim of this study was to explore the genetic association of Mediterranean fever (MEFV) gene polymorphisms rs3743930 and rs11466023 with ankylosing spondylitis (AS) susceptibility in a cohort of Chinese Han population. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping MEFV polymorphisms in 131 AS patients and 127 healthy controls. Chi-square test was employed to compare the genotype and allele distributions between the case and control groups. Odds ratio (OR) with 95% confidence interval (CI) was calculated to assess the association between MEFV gene polymorphisms and AS incidence. The frequency of the G allele of MEFV polymorphism rs3743930 in the AS group was significantly higher than that in the healthy control group (36.64% vs 28.35%, P .05). MEFV gene polymorphism rs3743930 might be significantly associated with AS susceptibility in Chinese Han population, and its G allele might predict high risk of AS.

Resumen: La fiebre mediterránea familiar (FMF) es una enfermedad hereditaria que se caracteriza por episodios breves y recurrentes de fiebre y dolor por inflamación de una o varias serosas (peritoneo, pleura, pericardio, sinovial o túnica vaginal del testículo). La amiloidosis es su complicación más importante y suele ser la principal causa de muerte en los casos en que se presenta. El diagnóstico se basa en la clínica y se confirma mediante pruebas genéticas. Para el tratamiento, se utiliza colchicina a 0,02-0,03 mg/kg/día, que permite tanto evitar la crisis como el desarrollo de la insuficiencia la renal. Presentamos el caso de un niño de 13 años en el que se diagnosticó FMF tras varios episodios coincidentes con fiebre de pericarditis con taponamiento cardiaco. La confirmación genética mostró un patrón de herencia poco frecuente autosómico dominante. Abstract: Familial Mediterranean fever (FMF) is a hereditary disease characterized by brief, recurring and self-limited episodes of fever and pain with inflammation, of one or several serous (peritoneum, pleura, pericardium, synovial or vaginal tunic of the testicle). Amyloidosis is its more important complication and the principal reason of death in the cases in which it appears. Diagnosis is based on the clinic and is confirmed by genetic tests. The treatment with Colchicine (0,02-0,03 mg/kg/day) prevents the recurrence of FMF attacks and the development of secondary (AA) amyloidosis. We report a case of a 13-year-old child in which FMF was diagnosed after several coincidental episodes with fever, pericarditis and cardiac tamponade. The genetic confirmation showed an autosomal dominant inheritance that is less frecuent than the recesive form, in this disease.

Familial Mediterranean fever is an autosomal recessive disorder characterized by transient attacks of fever and polyserositis with substantial risk of developing amyloidotic nephropathy over time. We report an Italian child with familial Mediterranean fever presenting with hematuria during attacks in whom kidney biopsy documented the presence of mesangial IgA deposits and the absence of amyloidosis. Kidney biopsy should be performed in patients showing microscopic or gross hematuria during attacks of familial Mediterranean fever in order to gain additional epidemiological data about specific features of renal involvement and to allow adequate treatment.