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Objective is to analyze the incidence of Siberian tick typhus (STT) in the Russian Federation over the period of 2010–2020, Astrakhan spotted fever (ASF) and Mediterranean fever (MF) since the official registration, and to forecast the development of the epidemic process for endemic rickettsioses for 2021. The analysis of the incidence of STT, ASF and MF in Russia for the period of 2010–2020, 2013–2020 and 2014–2020, respectively, has been carried out. The forecast of endemic rickettsioses morbidity in the European and Asian parts of Russia for 2021 has been made. The average long-term incidence of STT for 2010–2020 in the Russian Federation as a whole was 1.04 (CI95 1.02÷1.05) 0/0000, with no tendency to change. The maximum relative incidence of STT is typical for the Siberian Federal District (SFD), where the average long-term incidence rate for 2010–2020 was 6.20 (CI95 6.08÷6.31) per 100 thousand of the population. The Far Eastern Federal District (FEFD) – 4.70 (CI95 4.53÷4.87) 0/0000 came in second place, the third place was taken by the Ural Federal District (UFD) – 0.08 (CI95 0.07÷0.10) 0/0000. When assessing the 11-year dynamics of the relative incidence of STT by the Federal Districts, we have detected a tendency to its stabilization in the SFD and the FEFD. In the UFD, a significant downward trend was revealed. The upward trend in the incidence of STT remained in the Altai Republic. Major decline in STT incidence was observed in the Kurgan Region, Trans-Baikal Territory, Krasnoyarsk Territory, and the Republic of Khakassia. There was a declining trend in the incidence of Astrakhan spotted fever in the Astrakhan Region and the Republic of Kalmykia. In the Republic of Crimea and the city of Sevastopol there is no trend to increase the incidence of Mediterranean fever.

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.

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

The Crimean Peninsula is located in the Northern part of the Black sea, from the East it is washed by the Sea of Azov, to the South and West by the Black Sea. The unique geographical and climatic conditions facilitate leptospirosis, tularemia, tick-borne encephalitis, Lyme disease, intestinal yersiniosis, pseudotuberculosis, hemorrhagic fever with renal syndrome, Crimean-Congo hemorrhagic fever, Mediterranean fever, Q-fever and other infectious diseases natural foci formation on the territory of Crimea Republic. Tick-borne natural focal infections have the most significance due to favorable epidemiologic conditions especially on the background of high raid ticks attacks on people. A leading role in the epizootology and epidemiology of tick-borne natural-focal infections of the Crimea are playing Ixodidae that occur in different landscape-climatic zones, with the greatest their species diversity is observed in mountain-foothill, forest and forest-steppe regions. There are about 30 species in Ixodidae fauna of the Crimean Peninsula. Ticks species composition identification shows that over 50% of people attacks episodes in the Crimea on recent years is caused by Ixodes ricinus ticks species, the remaining are associated with Haemophisalis punctata, Rhipicephalus sanguineus, Hyalomma marginatum, Dermacentor marginatus and other. Refusal of treatment in medical institutions of the people affected by tick bites, and the possibility of an attack on people subtle phases of mites are lubricates the real picture of the frequency of contacts of the population with ticks and complicates the forecasting of the epidemiological situation. This review summarizes the available information about spreading of tick-borne encephalitis, Lyme disease, Mediterranean and Crimean-Congo haemorrhagic fevers on the territory of Crimea Republic and demonstrates the modern trends and manifestations of epidemic process of these nosological forms. The results obtained in the analysis of our investigations and literature data, showed that the conditions of globalization lead to an increase in the frequency of contacts of the population with natural foci, and one of the most common tick-borne natural focal infections on the territory of the Peninsula are Lyme disease and the Mediterranean fever. Epidemiological analysis of the prevalence of tick-borne encephalitis and Crimean-Congo haemorrhagic fever in Crimea revealed a decrease in the activity of natural foci of these infections at the present stage. The problem of tick-borne natural focal infections in Crimea Republic requires further careful study.

The occurrence of Mediterranean fever with periods of increase and decrease has been recorded in the Crimean peninsula. The city of Sevastopol and its vicinity are known endemic areas for this disease. Some of the most active agents in the spread of this rickettsiosis are feral and abandoned dogs. The aim of this study was to test ticks parasitizing dogs in Sevastopol for the presence of Rickettsia using molecular methods. The testing of ticks was carried out using real-time PCR and the ‘Real Best DNA Rickettsia species’ kit (AO ‘Vector-Best’) followed by sequence identification of the rickettsial DNA detected. The DNA marker for Rickettsia species (a conservative area of citrate synthase gene, gltA) was detected in 16 of 84 (19.1%) samples of Rhipicephalus sanguineus ticks tested. Larger fragments of gltA, ompA and sca4 were amplified and sequenced for 10 of 16 PCR-positive samples. Rickettsia DNA amplified from eight of the samples matched the sequence of Rickettsia conorii conorii Malish, the causative agent of Mediterranean fever. The sequences of Rickettsia DNA from two other ticks had the closest match to homologous fragments of Rickettsia massiliae, a pathogenic spotted fever rickettsia that was identified in the Crimean Peninsula for the first time as part of this study. The detection of two pathogenic species of Rickettsia in the studied ticks suggests the potential for two rickettsial diseases in the region and warrants further epidemiological and clinical studies.

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.

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.

Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel. Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes. Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3. Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations. Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation. Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R. Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF. The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region.