Search

Introduction. Familial Mediterranean fever (FMF) is a non-infectious genetic disease caused by a mutation in the MEFV gene. This disease is more common in people of Mediterranean or Middle Eastern descent, but can occur in any ethnic group, including those living European countries. FMF has typical clinical symptoms. Its long term without appropriate treatment the disease can lead to a violation of the child's physical development and result in the development of amyloidosis. The aim is to focus the attention of the medical community of Ukraine and inform European medical specialists on the FMF cases due to migration changes in Ukraine. This article presents a clinical case of FMF in a 4-year-old child who was admitted to our hospital with complaints of fever, abdominal pain, vomiting, and stool retention. Additional examination included: laboratory tests (complete blood count, urinalysis, biochemical blood test with determination of liver and kidney tests); instrumental methods: ultrasound examination of the abdominal organs and urinary system, X-ray examination of the abdominal organs with contrast. The results of additional tests revealed the signs of inflammatory process and impaired kidney function. When clarifying the family medical history, it was revealed that the older brother suffers from FMF (a mutation of the MEFV genotype was determined) and takes specific therapy (colchicine). The final diagnosis was determined: Acute strangulated intestinal obstruction. Familial Mediterranean Fever (clinically). Peritonitis. Operative laparoscopic and conservative treatment was performed. The patient was discharged in a satisfactory condition with appropriate recommendations. Conclusions. The number of FMF cases in children have increased due to changes in the migration process in Ukraine. The relevance of this disease has increased. Taking into consideration a significant migration of population, the likelihood of an increase in the number of cases of FMF in European countries is increasing, which requires awareness among a wide range of doctors.In this report we have described a pediatric FMF case which was represented by recurrent episodes of fever, abdominal pain, impaired kidney function test results, and inflammatory markers. A determined mutation of the MEFV genotype in the brother of our patient makes the diagnosis of FMF unquestionable. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.

This study is designed to evaluate the potential influences of Mediterranean fever gene (MEFV) gene polymorphism on systemic lupus erythematosus (SLE) in a cohort of juvenile patients. A case–control study was performed on Iranian patients with a mixed ethnicity population. Genotypes of 50 juvenile cases, and 85 healthy controls were investigated for identifying M694V and R202Q polymorphism. Genotyping was done utilizing amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) to detect M694V and R202Q mutations, respectively. Our study indicates significant differences in the alleles and genotypes frequencies of MEFV polymorphism between SLE patients and healthy controls (P < 0.05). Also, an association was found between renal involvement (50% vs. 8.3%, P = 0.000, OR = 0.91, 95% CI = 0.30–0.278) in juvenile SLE patients and M694V polymorphism incident; But there was no association with other clinical manifestations. We found a significant association between R202Q and M694V polymorphism of the MEFV gene and susceptibility to SLE in the studied population; However, further studies on detailed characterization of these polymorphisms' impacts on the key elements responsible for SLE pathogenesis is of great importance. [ABSTRACT FROM AUTHOR]

Brucellosis, known as "Mediterranean fever", has been an endemic zoonosis in human societies, especially in rural and island environments, for thousands of years. The macroscopic characteristics of this infection by Brucella bacteria are well defined, but they are difficult to assess in palaeopathological diagnoses, as reflected by the small number of cases in the relevant literature. This is due to the rather complex differential diagnosis of the disease, in particular involving other infections with a predilection for the spine which were very frequent in past populations. This article presents the results of a study of two unpublished cases of brucellosis, one from the mediaeval Carolingian monastic complex of Saint-Sauveur d’Aniane (34), and the other from the mediaeval and modern cemetery of La Closeraie, in Aix-en-Provence (13). The aim of this article is therefore to present the palaeopathological data obtained for these subjects, in whom macroscopic lesions observed on the lumbar spine, supported by medical imaging, suggest brucellosis. These new findings demonstrate the need to broaden the scope of approaches in order to reinvestigate this pathology in ancient contexts. Our aim is to invite anthropological biologists to consider this diagnostic possibility in their studies of osteoarchaeological series, whether newly discovered or already uncovered in the past.

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). [ABSTRACT FROM AUTHOR]

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.

Background: Familial Mediterranean fever is a hereditary inflammatory disorder caused by variants in MEFV. c.2230G>T p.(Ala744Ser) rs61732874 is considered to be an established pathogenic variant in MEFV, but in this study we provide a complete evaluation that suggests this variant is likely benign. Methods: Using an in‐house exome database from 924 individuals, we extracted all individuals harboring this variant for clinical, laboratory, and familial evaluation. Results: We identified the variant in 58 individuals from 39 families. The allele frequency of this variant in our database is 4.2%. None of the identified individuals match the diagnosis of Familial Mediterranean Fever. Using the American College of Medical Genetics and Genomics guidelines for variant classification, this variant is classified as likely benign and not pathogenic. Conclusion: Conflicting evidence about variants creates challenges for testing laboratories and impacts patient care. Sharing information drawn mainly from underrepresented populations and clinical phenotyping are important tools for precise curation of genetic variants. [ABSTRACT FROM AUTHOR]

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.

This case describes the first patient with familial Mediterranean fever (FMF) with massive left pleural effusion as the first clinical manifestation, to whom a video-assisted thoracoscopic surgery was performed to support the diagnosis. The patient was a 28-year-old male, who presented with dry cough and dyspnea but no fever. The lab findings showed hypoxemia (partial pressure of oxygen   = 65 mm Hg) accompanied by elevated inflammatory markers, including C-reactive protein at 7 mg/dl (<0.5 mg/dl), erythrocyte sedimentation rate of 46 mm/h (<20 mm/h), and serum amyloid at 56.7 mg/L (<10 mg/L). X-ray indicated the left pleural effusion was part of a bilateral recurrent painless pleuritis, as the right pleural thickening implied. Numerous biopsies were taken during the thoracoscopy, and the histopathology examination reported non-specific fibrous pleurisy. Colchicine administration, at first empirically for upcoming pericarditis, at the end was a significant clue for the diagnosis. Positive molecular testing for mutations in the familial Mediterranean fever (MEFV) gene contributed to the diagnosis of FMF, which was based on the Tel-Hashomer clinical criteria. The purpose of this article is hopefully to raise further awareness about patients with FMF presented with unusual manifestations of the disease., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2023, Dimeas et al.)

Copyright of Turkish Journal of Physical Medicine & Rehabilitation / Turkiye Fiziksel Tip ve Rehabilitasyon Dergisi is the property of Turkish Society of Physical Medicine & Rehabilitation and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

It is well established that there are people with higher risk of developing acute rheumatic fever (ARF) and rheumatic heart disease (RHD). Mediterranean fever (MEFV) gene mutations might be one of the genetic predisposition factors in the development of ARF/RHD since defect in familial Mediterranean fever (FMF) patients is proposed to be heightened inflammatory response to certain stimuli. Previous clinical observations suggested a relationship between FMF and ARF/RHD. The aim of this study was to investigate the role of the MEFV gene mutations in the susceptibility to RHD in Turkish patients. A total of 100 patients with RHD and 100 healthy controls were included in the study. Diagnosis of RHD was based on echocardiographic findings in which a predominant mitral stenosis was used as an inclusion criterion. Genetic analysis was carried out by sequence analysis investigating two hot spots (exons 2 and 10) for MEFV mutations. Mutation analysis showed that 22 RHD patients (22%) and 24 healthy controls (24%) carried at least one mutated allele. MEFV mutations were identified in 22 of 200 (11%) chromosomes in RHD patients while 26 of the 200 (13%) chromosomes of healthy controls were found to carry a mutated allele. No difference was found in allele frequencies and their distribution between the patients and healthy controls ( p = 0.54). MEFV mutations are not associated with a predisposition to develop RHD in adult Turkish patients. [ABSTRACT FROM AUTHOR]

This article is devoted to the description of the cave complexes in the territory of Armenia (including Gegarkunik region) and Artsakh, both old and the new oness. A comparative analysis of the literature data on the haplotyping of the Azokh paleontrope and the inhabitants of modem Armenia also had been carried out. An identical haplotype RI b of an ancient man who had lived in the Azokh cave and modern Annenians which are the residents of Syunik and Zangezur, and lake Sevan area (Gegarkunik region) had been found. The presence of caves on the territory of Annenia and Artsakh with found human remains and the identity of the haplotypes of ancient and modern humans in the territory habitation of the Armenian population proves the anciety of human life in this territory and considers the Armenian Highlands and Artsakh as the cradle of the formation of the Armenian ethnos and Armenian civilization. Haplotype RI b indicates that Armenians man kind belongs to the Caucasoid type. Identical are alsothe immunological data having recieved during the study of certain diseases (Familial Mediterranean Fever) in the Armenians of Armenia and Artsakh. [ABSTRACT FROM AUTHOR]

Amyloidoses are a very heterogeneous set of diseases, characterized by extracellular deposition of fibrillar proteins in different tissues. It is still a matter of debate whether the different forms of amyloidosis can share some common etiological mechanisms, or they are completely unrelated. The biochemical characterization of the protein component of the deposits provides a powerful system of classification for the different amyloidotic disorders and shades light on the molecular mechanisms of selective precipitation from soluble precursors and of tissue-specific deposition. Furthermore, identification and analysis of the genes coding for the precursors, and clarification of the kind of inheritance in some familial forms of amyloidosis, make prevention through genetic counselling and predictive diagnosis possible. [ABSTRACT FROM AUTHOR]

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-time 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., Competing Interests: The authors have declared that no competing interests exist., (Copyright © 2020, Evran et al.)

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.

Purpose: Fibromyalgia (FM) syndrome is a form of non-articular rheumatism characterized by long term and widespread musculoskeletal pain, morning stiffness, sleep disturbance, paresthesia, and pressure hyperalgesia at characteristic sites, called soft tissue tender points. The etiology of FM is still obscure. Genetic factors may predispose individuals to FM. Cytokines may play a role in the pathophysiology of FM. The aim of this study was to investigate the interleukin-4 (IL-4) 70 bp VNTR variations in Turkish patients with FM and evaluate if there was an association with clinical features, especially between these polymorphisms., Methods: The study included 300 patients with FM and 270 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction (PCR) for the IL-4 gene 70 bp VNTR polymorphisms., Results: There was statistically significant difference between the groups with respect to IL-4 genotype distribution and allele frequencies (p<0.0001). The homozygous P1P1 genotype and P1 allele were significantly higher in FM patients than in healthy controls (p=0.04; OR: 3.25, 95% CI: 1-10, p<0.0001; OR:4.84, 95% CI:3-7.7). There was not any difference between the groups respect to IL-4 genotype distribution and allele frequencies (p>0.05) and clinical characteristics., Conclusion: Our findings suggest that there is an association of IL-4 gene 70 bp VNTR polymorphism with susceptibility of a person for development of FM. As a result, further studies are necessary to determine whether IL-4 may be a genetic marker for FM in the Turkish population., (Copyright © 2013 Elsevier B.V. All rights reserved.)