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The color organ with its modern interpretation is an electronic device representing sound in a visual configuration. The origins of the color organ inventions can be traced back to the hand-operated models based on harpsichord design promising the splash of colors upon pressing a key. In this perusal, the harpsichord appears as a tool of fashion with its unique interpretation taking place in a setting where the author got into the habit of calling the ocular harpsichord ‘la toilet’. The acquisition of a certain tendency made the author develop a habit of calling ornaments in general as ‘visible music’. Throughout the narrative incorporating romantic features, the concept of ornament in music manifests itself visibly on clothing and architectural decoration adhering to the philosophical fulcrum between the 18th-century decorative aesthetics and the inventiveness of the Lumières. As a logical consequence, a mathematical structure applied in architecture could turn into keyboard compostition.

Aim: Atypical hemolytic uremic syndrome (aHUS) is a rare, heterogeneous life-threatening disease of alternative complement pathways. Hemolytic uremic syndrome (HUS) is the clinical triad of thrombocytopenia, anemia, and acute renal injury. It is aimed to evaluate long-term follow-up of patients with aHUS in the present study. Materials and methods: Eleven children diagnosed with aHUS were retrospectively evaluated. Demographic, clinical, and laboratory data and treatment details were reported. Results: A total of 11 patients were enrolled in this study. The mean age of patients at aHUS onset was 2.9±6 years. The mean follow-up time was 72 ± 4 months All patients had renal involvement. Extrarenal manifestations of aHUS were present in four patients. All patients had eculizumab treatment. Conclusion: Our study insight into the diagnosis and management of aHUS in our pediatric patients. More genetic testing is needed to improve the diagnosis of aHUS. We demonstrated the long-term efficacy and safety of eculizumab in our aHUS patients. Further studies are needed to determine the optimal time for discontinuation of eculizumab treatment.Aim: Atypical hemolytic uremic syndrome (aHUS) is a rare, heterogeneous life-threatening disease of alternative complement pathways. Hemolytic uremic syndrome (HUS) is the clinical triad of thrombocytopenia, anemia, and acute renal injury. It is aimed to evaluate long-term follow-up of patients with aHUS in the present study. Materials and methods: Eleven children diagnosed with aHUS were retrospectively evaluated. Demographic, clinical, and laboratory data and treatment details were reported. Results: A total of 11 patients were enrolled in this study. The mean age of patients at aHUS onset was 2.9±6 years. The mean follow-up time was 72 ± 4 months All patients had renal involvement. Extrarenal manifestations of aHUS were present in four patients. CFH mutations were detected in four patients. All patients had eculizumab treatment. Conclusion: Our study insight into the diagnosis and management of aHUS, which is a very rare disease, in our pediatric patients. Genetic testing is needed to improve the diagnosis of aHUS. We demonstrated the long-term efficacy and safety of eculizumab in our aHUS patients. Further studies are needed to determine the optimal time for discontinuation of eculizumab treatment.

Background OTULIN-related autoinflammatory syndrome (ORAS) is an autosomal recessive disease characterized by systemic inflammation, recurrent fever. Due to limited knowledge about the OTULIN DNA variants that cause ORAS, the diagnosis and treatment of this disease is difficult. In this study, we aim to identify OTULIN DNA variants responsible for the genetic pathology of ORAS and observe the effects of these variants on the OTULIN protein structure and the function with different bioinformatics approaches. Methods The present study included 3230 individuals with the suspicion of an autoinflammatory disease who were referred to Ege University Children's Hospital Molecular Medicine Laboratory. OTULIN variants were detected using a panel consisting of 37 different autoinflammatory diseases (AID) genes via targeted Next-Generation Sequencing. Results As a result of the study, DNA variants associated with various AID were detected in 65% of the individuals to whom the panel was applied. Among these variants, only three different OTULIN variants (p.Val82Ile, p.Gln115His and p.Leu131_Arg132insLeuCysThrGlu) were detected. The pathogenic effects of the variants detected in the OTULIN gene were determined by using Polyphen2 as Probably Pathogenic for the p.Val82Ile and benign for the p.Gln115His. At the same time, the effects of these variants on the structure and function of the OTULIN protein were investigated by in silico approaches. Both variants reduce protein stability and binding affinity. Conclusion The results of the current study suggest that the evaluation of OTULIN variants with in silico approaches will contribute to the development of personalized treatments by diagnosing the disease specific to the variant.

This study aims to contribute to the field of contemporary art-technology by leaving a historical-artistic touch in line with the function of the fine arts on our ‘senses’ that were conceived, imagined, and took place on the stage by dint of human labor and creative ability during the absence of technology. The prominent outcome shows that an integrated Opera where optics and acoustics dominate and the production of spectacular effects depends more on the art of the stage machinist is among the auditory-visual spectacles of the scene that one which has the most need for ‘artificial visions’.The study has shown that the ideal of achieving a holistic work of art, by aestheticizing the ‘scenic space’ has been stated by the Italian scenographer Pietro Gonzaga (1751-1831) in one of his several theoretical treatises: “À Propos d'Optique Théâtrale”(About Theatre Optics) stamped in 1807 in St. Petersburg before Richard Wagner's (1813–1883) conception of the total work of art has been professed. The scenographer has particularly considered that the stage which contains the show and its simulation in the place where the event takes place could itself be expressive. The study concludes by referring to the clairvoyant point of view of a scenographer who could be regarded as the pioneer of modern day directing art, that the total work of stage art took place in 18th -19th centuries is envisaged to function as a kind of television screen.

synesthesia rather than being a mind anomaly is a norm of human psychic perception, imagination, and creativity, manifested in non-verbal thinking, realized by either involuntary or by purposeful comparison of different modalities, on the basis of structural, semantic, or emotional similarities. In this context, synesthesia associates with cultural aspects rather than being a biological phenomenon, moreover, language, monosensory and bisensory arts, serve as the “testing areas” where synaesthesia is formed and most actively cultivated.

synesthesia rather than being a mind anomaly is a norm of human psychic perception, imagination, and creativity, manifested in non-verbal thinking, realized by either involuntary or by purposeful comparison of different modalities, on the basis of structural, semantic, or emotional similarities. In this context, synesthesia associates with cultural aspects rather than being a biological phenomenon, moreover, language, monosensory and bisensory arts, serve as the “testing areas” where synaesthesia is formed and most actively cultivated.

Pareidolia in shapes, colors, and their symbolic meanings. Everyone has experienced pareidolia at least once. It is possible for objects around us to create illusions based on their shapes. In this catalogue, I will touch on the pareidolic vision of the painters of music, Kandinskij, and Ciurlionis. As a result of the symmetry in their paintings achieved a pareidolic effect. This catalog is dedicated to kids worldwide and those whose inner kids have never grown.

Background/aim: In children with autosomal dominant polycystic kidney disease (ADPKD), clinical manifestations range from severe neonatal presentation to renal cysts found by chance. We aimed to evaluate demographic, clinical, laboratory findings, and genetic analysis of children with ADPKD. Materials and methods: We evaluated children diagnosed with ADPKD between January 2006 and January 2019. The diagnosis was established by family history, ultrasound findings, and/or genetic analysis. The demographic, clinical, and laboratory findings were evaluated retrospectively. Patients < 10 years and >= 10 years at the time of diagnosis were divided into 2 groups and parameters were compared between the groups. Results: There were 41 children (M/F: 18/23) diagnosed with ADPKD. The mean age at diagnosis was 7.2 +/- 5.1 (0.6-16.9) years and the follow-up duration was 59.34 perpendicular to 40.56 (8-198) months. Five patients (12%) were diagnosed as very early onset ADPKD. All patients had a positive family history. Genetic analysis was performed in 29 patients (PKD1 mutations in 21, PKD2 mutations in 1, no mutation in 3). Cysts were bilateral in 35 (85%) of the patients. Only one patient had hepatic cysts. No valvular defect was defined in 12 patients detected. Only 1 patient had hypertension. None of them had chronic kidney disease. No difference could be demonstrated in sex, laterality of the cysts, maximum cyst diameter, cyst or kidney enlargement, follow-up duration, or GFR at last visit between Groups 1 and 2. Conclusion: The majority of children with ADPKD had preserved renal functions and slight cyst enlargement during their follow-up. However, they may have different renal problems deserving closed follow-up.

We suggest PLAID, APLAID, and FCAS3 have to be considered as different aspects of the same underlying condition, because of our long-term clinical and genetical experiences. Some CVID patients have the same disease-causing mutations in PLCG2 gene, so it may be better to define all of them as "PLCG2deficiency.", The Jeffrey Modell Foundation (JMF), This work was partly supported by The Jeffrey Modell Foundation (JMF). The authors thank The Jeffrey Modell Foundation for their precious support.

What is an ornament? The term has various meanings both in decoration and music. The noun form of the term refers to an object that enhances the appearance of a person or thing. While the verb use of the term describes the act of improvising or adding embellishment to a composition, which is synonymously defined as embellishment in music. For instance, the embellishment of the divine notation was a vital part of the musical experience of the classical period. The subject of “The Synaesthetic Ornament’’ takes place in an intercontinental setting where the imitative interpretations of late baroque, rococo, neoclassical, and romantic styles are eclectically adapted, additionally, every form is defined as “the music of the eyes.’’ L. Berdeli, by inferring from the historical data, reveals what philosophy could lie behind the idea of combining music and spatial design in the 18th and 19th centuries that inspired artists to define architecture as musical compositions.

Objective: In this study, we aimed to evaluate other interleukin-1b-mediated monogenic autoinflam- matory diseases (AIDs) (tumor necrosis factor receptor-1-associated periodic syndrome, hyperimmuno- globulin D syndrome, cryopyrin-associated periodic syndrome (CAPS), pyogenic arthritis, pyoderma gangrenosum, and acne syndrome) by the next-generation sequencing method (NGS) in cases with clinical Familial Mediterranean Fever symptoms, and no variant detected in the MEFV gene. Methods: The cases included in this study and their parents were interviewed and filled in a survey form. The targeted genetic panel for interleukin-1b-mediated AIDs covering four genes (MVK, NLRP3,TNFRSF1A, and PSTPIP1) was studied for cases with a negative result from the MEFV gene analysis. The genetic analysis was conducted using the targeted NGS method. Results: Variants were found in 16 out of the 40 patients in the study sample. These variants were pri- orly reported in variant databases, and three of them were identified as definitely pathogenic (V377I of the MVK gene, C52Y of the TNFRSF1A gene, and I313V of the NLRP3 gene), four as a variant of uncer- tain significance (VUS) (R92Q of the TNFRSF1A, A372V of the PSTPIP1, and V198M and Q703K of the NLRP3), and one as benign polymorphism (S52N of the MVK gene). The median age of onset among variant-positive cases was 10.5 (3.5-18) years. The most common clinical findings in the variant-positive group were arthralgia, fever, and abdominal pain. While three out of 40 patients met the classification criteria before genetic analysis, only one patient was diagnosed with CAPS as a result of genetic analy- sis, and other patients were considered as nonspecific phenotype. Conclusion: The use of NGS gene panels seems beneficial in diseases with heterogeneous clinical manifestations such as systemic AIDs. Although the number of variants detected is high, clinical diag- nosis rates remain low. The genotype–phenotype relationship in these diseases is still unclear.

Objectives: HSP is a common small vessel vasculitis. It is the most common cause of non-thrombocytopenic purpura in childhood. The role of genes in etiopathogenesis of the disease, which has not yet been clearly elucidated, is being emphasized. Many genes called sialidases are being studied and is thought that the NEU1 gene may be particularly important in the etiopathogenesis of HSP. The aim of this study is to investigate the role of the NEU1 gene in the etiopathogenesis of HSP and its relation to renal involvement.Materials and methods: Fifty patients followed in the Celal Bayar University Hafsa Sultan Hospital Pediatric Nephrology Department, with the diagnosis of HSP renal involvement were included into the study. For the control group, age and gender matched 50 cases were accepted among the outpatients admitted to Pediatric Department without any chronic diseases. NEU1 gene mutation analysis was performed in blood samples of both patient and control groups by using the Sanger DNA sequencing method.Results: NEU1 genetic mutation was not detected in any HSP patient with renal involvement and control group. Conclusion: In our study, the NEU 1 gene was not found to be associated with HSP nephritis. No changes were detected in the investigated regions of the NEU1 gene., Amaç: Henoch-Schönlein Purpura (HSP) yaygın bir küçük damar vaskülitidir. Çocukluk çağında trombositopenik olmayan purpuraların en sık nedenidir. Hastalığın etyopatogenezi henüz net olarak aydınlatılmamış olmakla beraber genlerin rolü üzerinde durulmaktadır. Sialidazlar adı verilen birçok gen üzerinde çalışılmakta ve nöraminidaz 1 (NEU1) geninin HSP etyopatogenezinde özellikle önemli olabileceği düşünülmektedir. Bu çalışmanın amacı, NEU1 geninin HSP etyopatogenezindeki rolünü ve böbrek tutulumu ile ilişkisini araştırmaktır.Gereç ve yöntem: Celal Bayar Üniversitesi Hafsa Sultan Hastanesi Çocuk Nefroloji Kliniği'nde HSP böbrek tutulumu tanısı ile takip edilen 50 hasta çalışmaya dahil edildi. Kontrol grubu olarak, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı polikliniğine herhangi bir kronik hastalığı olmayan hasta grubu ile yaş ve cinsiyet uyumlu 50 olgu kabul edildi. Hasta ve kontrol gruplarının kan örneklerinde NEU1 gen mutasyon analizi yapıldı.Bulgular: Böbrek tutulumu olan HSP hastalarında ve kontrol grubunda NEU1 genetik mutasyonu saptanmadı.Sonuç: Çalışmamızda NEU1 geninin HSP nefriti ile ilişkisi bulunmamıştır. NEU1 geninin araştırılan bölgelerinde herhangi bir değişiklik tespit edilmemiştir. Daha geniş hasta sayısıyla çalışılmasına ihtiyaç vardır.

Objective: Childhood primary hypertension has been increasing in parallel with the increase in obesity prevalence in recent years. Hypertension is a polygenic disease in which epigenetic changes are also effective. In this study, factors and gene polymorphisms in hypertension etiology were evaluated. Methods: Age, gender, body mass index, family history, blood glucose and lipid levels, blood pressure measurements and percentiles at the time of diagnosis, post-treatment blood pressure controls, and target organ involvement were examined. Polymorphisms of ACE, renin, angiotensin, aldosterone, FABP2, and ApoB100 were evaluated. Results: A total of 100 patients, 50 patients (group 1) and 50 healthy controls (group 2), were included in the study. In terms of age distribution, the patient and control groups were not similar (P = .040). Distributions by gender were similar. While the mean height as one of the anthropometric values of both groups was statistically similar, the body mass index of Group 1 was significantly higher than the control group (P < .001). In the biochemical tests, only the high-density lipoprotein (HDL) mean of Group 1 was significantly lower than that of Group 2 (P < .001). When the distribution difference of ACE, renin, angiotensin, aldosterone, FABP2, and ApoB100 polymorphism was examined, no statistically significant difference was observed. Conclusion: In this study ACE, renin, angiotensin, aldosterone, FABP2, and ApoB100 gene polymorphisms were not identified as risk factors in existing pathways. © 2022 Turkish Society of Nephrology. All rights reserved., Ege Üniversitesi: 16-Tıp-033, Funding: This study was supported by Ege University Scientific Research Projects Coordination Unit. 16-Tıp-033.

Objective: In this study, we aimed to evaluate other interleukin-1b-mediated monogenic autoinflammatory diseases (AIDs) (tumor necrosis factor receptor-1-associated periodic syndrome, hyperimmunoglobulin D syndrome, cryopyrin-associated periodic syndrome (CAPS), pyogenic arthritis, pyoderma gangrenosum, and acne syndrome) by the next-generation sequencing method (NGS) in cases with clinical Familial Mediterranean Fever symptoms, and no variant detected in the MEFV gene. Methods: The cases included in this study and their parents were interviewed and filled in a survey form. The targeted genetic panel for interleukin-1 beta-mediated AIDs covering four genes (MVK, NLRP3, TNFRSF1A, and PSTPIP1) was studied for cases with a negative result from the MEFV gene analysis. The genetic analysis was conducted using the targeted NGS method. Results: Variants were found in 16 out of the 40 patients in the study sample. These variants were priorly reported in variant databases, and three of them were identified as definitely pathogenic (V377I of the MVK gene, C52Y of the TNFRSF1A gene, and I313V of the NLRP3 gene), four as a variant of uncertain significance (VUS) (R92Q of the TNFRSF1A, A372V of the PSTPIP1, and V198M and Q703K of the NLRP3), and one as benign polymorphism (S52N of the MVK gene). The median age of onset among variant-positive cases was 10.5 (3.5-18) years. The most common clinical findings in the variant-positive group were arthralgia, fever, and abdominal pain. While three out of 40 patients met the classification criteria before genetic analysis, only one patient was diagnosed with CAPS as a result of genetic analysis, and other patients were considered as nonspecific phenotype. Conclusion: The use of NGS gene panels seems beneficial in diseases with heterogeneous clinical manifestations such as systemic AIDs. Although the number of variants detected is high, clinical diagnosis rates remain low. The genotype-phenotype relationship in these diseases is still unclear.

Objectives Alkaptonuria is a rare autosomal recessive genetic disorder resulting from the deficiency of homogentisate 1,2 dioxygenase (HGD), the third enzyme in the tyrosine degradation pathway. Homogentisic acid produced in excess oxidizes into ochronotic pigment polymer. Accumulation of this pigment in various tissues leads to systemic disease. Methods Clinical, laboratory, molecular findings and treatment characteristics of 35 patients followed up in Ege University Pediatric Nutrition, and Metabolism Department with the diagnosis of alkaptonuria were evaluated retrospectively. Results Twenty-four males (68.57%) and 11 females (31.42%) with a confirmed diagnosis of alkaptonuria from 32 different families were included in the study. We identified 11 different genetic variants; six of these were novel. c.1033C>T, c.676G>A, c.664G>A, c.731_734del, c.1009G>T, c.859_862delins ATAC were not previously reported in the literature. 24 (68.57%) patients only adhered to a low-protein diet in our study group. Seven (20%) patients initiated a low protein diet and NTBC therapy. Mean urinary HGA decreased by 88.7% with nitisinone. No statistical changes were detected in urinary HGA excretion with the low protein diet group. Conclusions In our study, alkaptonuria patients were diagnosed at different ages, from infancy to adulthood, and progressed with other systemic involvement in the follow-up. Since the initial period is asymptomatic, giving potentially effective treatment from an early age is under discussion. Raising disease awareness is very important in reducing disease mortality and morbidity rates.

Original title of the work: “La musique des yeux et l'optique théatral: opuscules tirés d'un' plus grand ouvrage anglais sur le sens commun” (1807)&nbsp

Interleukin-1β (IL-1β), which is secreted by host tissues leading to periodontal tissue inflammation, is a major pro-inflammatory cytokine in the pathogenesis of periodontal disease. The conversion of pro-IL-1β into its biologically active form is controlled by multiprotein complexes named as inflammasomes, which are key regulator of host defense mechanisms and inflammasome involved diseases, including the periodontal diseases. Inflammasomes are regulated by different proteins and processes, including pyrin domain (PYD)-only proteins (POPs), CARD-only proteins (COPs), tripartite motif family proteins (TRIMs), autophagy, and interferons. A review of in vitro, in vivo, and clinical data from these publications revealed that several inflammasomes including (NOD)-like receptor (NLR) pyrin domain-containing 3 (NLRP3) and absent in melanoma 2 (AIM2) have been found to be involved in periodontal disease pathogenesis. To the best of our knowledge, the current article provides the first review of the literature focusing on studies that evaluated both inflammasomes and their regulators in periodontal disease. An upregulation for inflammasomes and a downregulation of inflammasome regulator proteins including POPs, COPs, and TRIMs have been reported in periodontal disease. Although interferons (types I and II) and autophagy have been found to be involved in periodontal disease, their possible role in inflammasome activation has not evaluated yet. Modulating the excessive inflammatory response by the use of inflammasome regulators may have potential in the management of periodontal disease.

WOS: 000463722800005, PubMed ID: 31365342, Objective: Familial Mediterranean fever (FMF) is the most common inherited monogenic autoinflammatory disease worldwide. It is caused by loss-of-function mutations in the MEFV gene, mostly affecting Eastern Mediterranean population. It is discussed if it should be considered an autosomal-dominant disease with variable penetrance, because heterozygosis mutations are associated with clinical autoinflammatory manifestations. Colchicine constitutes that the mainstay of FMF treatment should be preventing acute attacks and amyloidosis, and decreasing the chronic inflammation. In colchicine-resistant or intolerant patients, recent insights into the pathogenesis of FMF have made the anti-IL1 treatments important. We aimed to search for the retrospective results of canakinumab treatment in patients with FMF who are unresponsive to colchicine. Methods: In this study, 22 (13 males and nine females) patients with FMF with colchicine resistance/intolerance, age ranging from 6 to 18 years, were included in Ege University Department of Pediatric Rheumatology. After clinical and genetic diagnosis, colchicine treatment with standard doses was started. After treatment with canakinumab, complete response to treatment was determined as no acute episodes and normal level of acute phase reactants. Results: After canakinumab treatment, 22 patients with FMF who were colchicine-resistant were evaluated. After the treatment, no attack was observed in 19 patients, and the values of acute phase reactants were normal in 22 patients. In three patients, disease attack was observed 16 months after the first dose treatment. In all patients, the values of acute phase reactants were found at normal level during treatment. No drug-related side effects were observed in any patient. Conclusion: Canakinumab is an effective and safe anti-IL1 agent to reduce attacks in patients with FMF with no response to colchicine and to reduce the level of high-level laboratory findings associated with FMF.

[No abstract available]

OBJECTIVE RET/PTC in FNA (Fine needle aspiration) biopsy smears could improve the FNA diagnosis. The aim of study determining the prevalence of RET/PTC mutation in cases where thyroid nodules in ATA USG according to risk catogory is determined and investigating the relation of malignancy. METHODS RNA was extracted from 60 routine FNA. RET/PTC rearrangements were detected by real-time quantitative polymerase chain reaction, and, in parallel, RT-PCR is used to detect the chimeric RET/PTC1, RET/PTC2 and RET/PTC3 transcripts in RNA extracted from FNA. RESULTS A total of 75% FNA RET rearrangements were detected in the 20 PTC patients. RET/PTC positive was detected in 35% of cases without cancer (sensitivity 75%, specificity 65%) (p = 0,003). Significant correlation was found between A-high suspicion USG group (80%), B- intermediate suspicion USG group (45%) and C- low suspicion USG group (20%) in of RET/PTC rearrangements (p = 0.001). A significant correlation was found between the USG groups and the PTC (respectively group A,B,C: 60%, 30%, 10%)(p = 0.003). There was a statistical difference related to in the USG groups frequency between Classic type PTC (70%) and Follicular type PTC (30%)(p = 0.019). There was a statistical difference related to between RET/PTC and PTC types in the USG groups (p = 0.012). There was a statistical difference related to between usg groups tumor diameter A and C (P = 0.010). CONCLUSİON Molecular testing of FNA samples improves presurgical diagnosis. RET/PTC was found to be significantly higher in the diagnoses of the PTC with 75% sensitivity and 65% specificity

Familial Mediterranean Fever (FMF, OMIM ID: 249100) is the most common autoinflammatory, autosomal recessive disease caused by mutations in the MEFV gene. It is widespread in the Mediterranean, primarily among Turkish, Armenian, Arab and Jewish. This study aims to examine genotype distributions of common MEFV variants in the Turkish population using targeted NGS and to evaluate all rare mutations. It included 3230 people applying to Ege University Children's Hospital Molecular Medicine Laboratory with the suspicion of auto inflammatory disease between 2017 and 2021. MEFV missense variant was detected in 1839 (56.9%) individuals. One or more mutations were found in them. 1063 patients were heterozygous (57.8%), 410 were compound heterozygous (22.3%), 238 were complex genotype (12.9%), and 128 were homozygous (7%). 56 different mutations and 141 genotypes were detected, two of which were novel (p.His87Arg, c.260A > G and p.Leu396Phe, c.1186C > T). These were determined as 6benign, 40 uncertain significant, 3 likely pathogenic and 7 pathogenic according to the ACMG classification. The most common ones were R202Q (n = 1097, 37.48%), E148Q (n = 512, 17.49%), M694V (n = 493, 16.84%), V726A (n = 155, 5.30%), M680I (n = 150, 5.12%), P369S (n = 108, 3.69%), R408Q (n = 95, 3.25%) respectively. They constitute 89.17 % of the entire patient population. In conclusion, DNA variants/mutations in the MEFV gene were evaluated in 3230 patients. To date, no mutation screening has been encountered in such a large population using NGS. Genotype distributions of both common and rare mutations were revealed. The obtained data will hopefully contribute to the future genotype phenotype studies of FMF disease.

Background The inflammasome modulates the release of key proinflammatory cytokines associated with periodontal disease pathogenesis. The aim of this study was to evaluate the expression of proteins that regulate the inflammasome, namely pyrin domain-only proteins (POPs), caspase activation recruitment domain (CARD)-only proteins, and tripartite motif-containing (TRIM) proteins, in periodontal diseases. Methods A total of 68 participants (34 males and 34 females) were divided into four groups, including periodontal health (H), gingivitis (G), chronic periodontitis (CP), and aggressive periodontitis (AgP) based on clinical parameters. Gingival tissue samples were obtained from all participants for reverse transcription polymerase chain reaction (RT-PCR)-based gene expression analyses of molecules that regulate the inflammasome, including apoptosis-associated speck-like protein (ASC) containing CARD, caspase-1, interleukin-1 beta (IL-1 beta), interleukin-18 (IL-18), nucleotide-binding domain, leucine rich family (NLR) pyrin domain containing 3 (NLRP3), NLR family pyrin domain containing 2 (NLRP2), AIM2 (absent in melanoma 2), POP1, POP2, CARD16, CARD18, TRIM16, and TRIM20 by RT-PCR. Results NLRP3 and IL-1 beta were upregulated in the G, CP, and AgP groups compared with group H (P < 0.05). AIM2 was downregulated in the CP group compared with the H, G, and AgP groups (P < 0.05). TRIM20, TRIM16, and CARD18 were downregulated in the G, CP, and AgP groups compared with the H group (P < 0.05). POP1 and POP2 were downregulated in the CP and AgP, and AgP and G groups, respectively (P < 0.05). Conclusion Active periodontal disease may result in downregulation of inflammasome regulators that may increase the activity of NLRP3 and IL-1 beta in periodontal disease.

Background the inflammasome modulates the release of key proinflammatory cytokines associated with periodontal disease pathogenesis. the aim of this study was to evaluate the expression of proteins that regulate the inflammasome, namely pyrin domain-only proteins (POPs), caspase activation recruitment domain (CARD)-only proteins, and tripartite motif-containing (TRIM) proteins, in periodontal diseases. Methods A total of 68 participants (34 males and 34 females) were divided into four groups, including periodontal health (H), gingivitis (G), chronic periodontitis (CP), and aggressive periodontitis (AgP) based on clinical parameters. Gingival tissue samples were obtained from all participants for reverse transcription polymerase chain reaction (RT-PCR)-based gene expression analyses of molecules that regulate the inflammasome, including apoptosis-associated speck-like protein (ASC) containing CARD, caspase-1, interleukin-1 beta (IL-1 beta), interleukin-18 (IL-18), nucleotide-binding domain, leucine rich family (NLR) pyrin domain containing 3 (NLRP3), NLR family pyrin domain containing 2 (NLRP2), AIM2 (absent in melanoma 2), POP1, POP2, CARD16, CARD18, TRIM16, and TRIM20 by RT-PCR. Results NLRP3 and IL-1 beta were upregulated in the G, CP, and AgP groups compared with group H (P < 0.05). AIM2 was downregulated in the CP group compared with the H, G, and AgP groups (P < 0.05). TRIM20, TRIM16, and CARD18 were downregulated in the G, CP, and AgP groups compared with the H group (P < 0.05). POP1 and POP2 were downregulated in the CP and AgP, and AgP and G groups, respectively (P < 0.05). Conclusion Active periodontal disease may result in downregulation of inflammasome regulators that may increase the activity of NLRP3 and IL-1 beta in periodontal disease., Scientific and Technological Research Council of Turkey (TUBITAK), Ankara, TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK), This study was not supported by any financial organization. the corresponding author of this study (Kubra Aral) was supported with a scholarship by the Scientific and Technological Research Council of Turkey (TUBITAK), Ankara, Turkey. the authors report no conflicts of interest related to this study.

[No Abstract Available]

Spectators go to the theater to exercise sight, hearing, and other senses. In the light of the polymath vision of the Age of Reason, it remains to us to examine what could be the best interior disposition regarding optics and acoustics, which the auditory-visual shows would be indebted in the most advantageous way that the spectators can see and hear in the best as possible. The eyes and ears are the direct organs responsible for hearing and vision. By considering what can best stimulate visual and auditory pleasures and in which figure should be best adapted is the argument that we propose to examine in this study. Consequently, we will begin by explaining the sound manner of acting, and particularly that of the voice; how it spreads, what are the causes that can alter it or give it greater prominence. After that, we will pass to examine how sight is satisfied, and what can favor or cheat it most and from the result of all these observations, we will deduce which figure in question should be.

Objectives: In this study, it was aimed to investigate how the effects of Mesenchymal stem cells (MSCs) on the anti tumor properties of NK-92 cells change with programmed death-ligand-1 (PD-L1) blocking antibodies. Methods: NK-92 cells were co-cultured with MDA-MB-231 breast tumor cells and MSCs. To evaluate the effect of anti PD-L1 antibodies, cells were cultured for 48 hours with and without the addition of 1, 5, and 10 µg/ml anti PD-L1antibody. IFN-?, TNF-?, IL-10 and IDO levels of medium supernatants were determined by ELISA. CCK-8 kit was used toevaluate cytotoxic activity. Results: IFN-? and TNF-? expressions of NK-92 cells co-cultured with MDA-MB-231 increased significantly, but thisincrease was significantly decreased in culture groups with MSCs. IDO expressions increased significantly in co-culturegroups with MSCs only. Cytotoxic effects of NK-92 cells were significantly reduced in culture groups with MSCs. How ever, the suppression effects caused by MSCs improved in the presence of anti-PD-L1 antibodies and in a dose depen dent manner. Conclusion: In our findings, we found that MSCs are a highly effective inhibitors, and the IDO enzyme they secrete mayplay a major role in this. However, the suppressive effects caused by MSCs may be significantly improved by blockingthe PD-1/PD-L1 axis.

[No Abstract Available]

Translocationis a type of chromosomal abnormality, which results in a chromosome breaks where the portion of it reattaches to a different chromosome. This includesbalancedandunbalancedtranslocation, with two main types: reciprocal -andRobertsoniantranslocation. Robertsonian translocationis a type of translocation caused by breaks at or near the centromeres of twoacrocentricchromosomes. The reciprocal exchange of parts gives rise to one largemetacentricchromosome and one extremely small chromosome that may be lost from the organism with little effect because it contains few genes. The resultingkaryotypein humans leaves only 45 chromosomes, since two chromosomes have fused together. Robertsonian translocation is one of the major chromosomal rearrangements with a prevalence rate of 0.1% of the general population and 1% of the infertile population. These chromosomal translocations are mainly observed in group D including 13, 14, 15 and group G including 21 and 22 chromosomes

Nephrotic syndrome (NS) is characterized by proteinuria in children. Steroid- resistant NS (SRNS) is defined by resistance to standard steroid therapy, and it continues to be one of the most common causes of chronic renal failure. Molecular studies have revealed specialized molecules in different regions of the podocytes that play a role in proteinuria. Mutations in NPHS2 that encode for podocin constitute a frequent cause of SRNS worldwide. This study aimed to screen for podocin mutations in Azerbaijani patients with SRNS. Our study included 21 pediatric patients with SRNS aged between 0 and 18 years and the same number of healthy control groups. Mutational analysis of the NPHS2 gene was performed using direct sequencing methods. Disease-causing mutations in the NPHS2 gene were detected in eight patients (38%). Thirteen patients (62%) had NPHS2 mutations without causing the disease. Two patients had p.Val290Met homozygous mutation; two had p.Arg229Gln homozygous mutations; and one each had p.Pro20Leu homozygote, p.Leu169Pro homozygote, p.Arg138Gln homozygote, and p.Arg168His homozygous mutations. When we correlated the NPHS2 mutation status with disease progression, there was a statistically significant increase in serum creatinine, proteinuria, and serum albumin values in patients with NPHS2 gene mutations compared to the group without mutation (P

15-lipoxygenase (15-LOX) is a critical enzyme that allows the direction of arachidonic acid metabolism to change from inflammation into the resolution. This study aims to reveal how the immunomodulation properties of mesenchymal stem cells (MSC) alter by the 15-LOX overexpression. For this purpose, peripheral blood mononuclear cells (PBMCs) isolated from seven healthy volunteers, and both MSCs and 15-LOX overexpressing MSCs (15-LOXMSCs) were co-cultured at different cell ratios (1/1, 1/5 and 1/10). Alterations of CD4+Tbet+, CD4+Gata3+, CD4+RoRC2+, and CD4+FoxP3+ lymphocyte frequencies were detected by flow cytometry, and IFN-?, IL-4, IL-6, IL-10, IL-17a, TGF-? and LXA4 levels of medium supernatants were measured by ELISA method. According to our findings, MSC and 15-LOXMSCs have a suppressive effect on PHA activated PBMCs. However, as the ratio of PBMCs increased, the effects of 15-LOXMSCs increased significantly, while the effects of MSCs decreased. The most notable effect of the 15-LOX modification was the significant reduction in IL-6, IL-10 and IL-17a expression and the accompanying increase in TGF-? and LXA4 levels. We also observed a similar situation between CD4+RoRC2+ and CD4+FoxP3+ cell frequencies. These data suggested that the effects of MSCs on the balance of Th17 / Treg could change by the 15-LOX overexpression, and this might be in favor of the Treg cells. © 2021, 16-TIP-041, The Scientific Research Projects Commission of Ege University financially supported the project for this study, with the reference number 16-TIP-041 .

WOS: 000399263300015, PubMed ID: 28367892, The effects of bodybuilding and protein supplements on periodontal tissues have not yet been evaluated. The present study aimed to examine the periodontal status and interleukin (IL)-1 beta, apoptosis-associated speck-like protein containing C-terminal caspase-recruitment domain (ASC), and caspase 1 (CASP1) gene expression levels of body builders compared with those of controls. Twentyfive bodybuilders with gingivitis (BB-G) who used protein powder supplements were compared with 25 nonexercising males with (G) and 25 without (H) gingivitis. Saliva, gingival crevicular fluid (GCF), and serum were collected for gene expression analysis. Plaque index (PI), gingival index (GI), probing depth (PD), clinical attachment level (CAL), and bleeding on probing (BOP) were recorded. GI and BOP were higher in group BB-G and G than in group H (P < 0.01), but PI, PD, and CAL were similar between groups (P > 0.05). In GCF, CASP1, ASC, and IL-1 beta expression were upregulated in group G compared with groups BB-G and H (P < 0.01). In addition, ASC (P < 0.05) and IL-1 beta (P < 0.01) were downregulated in group BB-G compared with group H. CASP1, IL-1 beta (P < 0.01), and ASC in the saliva were downregulated in group BB-G compared with groups H and G (P < 0.05). CASP1, IL-1 beta, and ASC may play a role in the pathogenesis of gingivitis. Bodybuilding and supplement usage may decrease gingival inflammation by downregulating CASP1, and ASC., Scientific Research Fund of Sifa University [SUBAP 2015-6], This study was supported by the Scientific Research Fund of Sifa University, Project Grant # SUBAP 2015-6.

Uveitis is a chronic inflammatory disease. Chronic inflammation has been shown to have a role in pathogenesis of atherosclerosis. Atherosclerosis is the most important risk factor of cardiovascular diseases and is shown to start as early as childhood. In this study, we investigated the presence of subclinical atherosclerosis in children with uveitis. Seventy five patients who were diagnosed as having uveitis in ophthalmology and pediatric rheumatology clinics were included in the study. Patients with hypertension, obesity, dyslipidemia, diabetes, and with history of early cardiovascular disease were excluded. Arterial stiffness, carotid-femoral pulse wave velocity (PWV), augmentation index (AIx), and carotid artery intima-media thickness (cIMT) were measured for each patient. These measurements were compared with 50 healthy children with similar age and sex as controls. The mean age of patients in this study was 12.24 ± 2.69 years, and the mean age of controls was 11.32 ± 4.52 years. PWV and AIx values were higher in the patient group (p = 0.04, p = 0.03). cIMT levels were not different in patient and control groups. When patients were grouped as having uveitis for more than 5 years or not, patients with longer duration of uveitis had higher PWV, AIx, and cIMT levels (p values were 0.01, 0.02, and 0.04 respectively). Vascular functions deteriorate first with endothelial damage in children with uveitis and as disease continues, increase in cIMT is added. We think that for follow-up of the disease and evaluation of the treatment, non-invasive subclinical atherosclerosis markers should be used along with activation criteria of primary diseases.

Mutations in the Methyl-CpG-binding protein 2 (MECP2) gene have been implicated in the etiology of Rett syndrome (RTT), a neurodevelopmental disorder that primarily affects girls. MECP2 mutations in males, once thought to be lethal, are now recognized with a broad spectrum of clinical manifestations. Here we report a 3-year-old boy who presented with developmental problems and regression and eventually was diagnosed with RTT that genetic analysis revealed to be a hemizygous c.316C>T missense mutation in the MECP2 gene suggesting somatic mosaicism with the normal 46,XY karyotype. DNA analysis of the patient’s mother showed this either to be a de novo mutation or a case of gonadal mosaicism. To the best of our knowledge, this is the first case report of RTT in a young boy with a hemizygous c.316C>T mutation in the MECP2 gene.

Objectives: Chronic recurrent oral aphthous ulcers are frequent inflammatory reactions of the oral mucosa. in this report, a patient with NLRP3 mutation is reported. Case report: An 18-year-old male patient presented to the outpatient clinic with the complaint of recurrent aphthous ulcers. the patient had a history of recurrent, painful aphthous lesions varying in size in the base of the mouth, on the tongue, and in the inner lip. the aphthous ulcers healed with time and had been recurring every 3-4 months in different parts of the mouth since childhood. There was no fever, no abdominal pain, and no genital ulcers. Medical genetic analysis was performed and a heterozygous mutation in the NLRP3 gene, heterozygous mutation in the MEFV gene, and heterozygous mutation in the MVK gene were determined. the patient was also a carrier of familial Mediterranean fever. Colchicine treatment was administered. the patient's oral aphthous lesion attacks and their frequency were followed for about 1 year and the complaints decreased. Conclusion: Physicians should maintain a broad perspective while treating patients with recurrent aphthous complaints. Medical genetic analyses of such patients should also be performed if necessary. in this way, unnecessary treatments will be prevented and drug use will be limited. the prognosis of the disease will be improved and the risk of complications will be reduced.

Interleukin-1 beta (IL-1 beta), which is secreted by host tissues leading to periodontal tissue inflammation, is a major pro-inflammatory cytokine in the pathogenesis of periodontal disease. the conversion of pro-IL-1 beta into its biologically active form is controlled by multiprotein complexes named as inflammasomes, which are key regulator of host defense mechanisms and inflammasome involved diseases, including the periodontal diseases. Inflammasomes are regulated by different proteins and processes, including pyrin domain (PYD)-only proteins (POPs), CARD-only proteins (COPs), tripartite motif family proteins (TRIMs), autophagy, and interferons. A review of in vitro, in vivo, and clinical data from these publications revealed that several inflammasomes including (NOD)-like receptor (NLR) pyrin domain-containing 3 (NLRP3) and absent in melanoma 2 (AIM2) have been found to be involved in periodontal disease pathogenesis. To the best of our knowledge, the current article provides the first review of the literature focusing on studies that evaluated both inflammasomes and their regulators in periodontal disease. An upregulation for inflammasomes and a downregulation of inflammasome regulator proteins including POPs, COPs, and TRIMs have been reported in periodontal disease. Although interferons (types I and II) and autophagy have been found to be involved in periodontal disease, their possible role in inflammasome activation has not evaluated yet. Modulating the excessive inflammatory response by the use of inflammasome regulators may have potential in the management of periodontal disease., University of Birmingham; Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK), University of Birmingham; Scientific and Technological Research Council of Turkey

Amaç: Mezenkimal kök hücreler (MKH) güçlüimmünomodülatör hücreleridir ve ayrıca tümör mikroçevresinin bir bileşenidir.Bu çalışmada meme tümör hücre hatları MDA-MB-231 ve MCF-7’nin immün evazifmoleküller olan Indoleamine 2,3-dioxygenase (IDO), Human Leukocyte Antigen G(HLA-G) and Programmed Death-Ligand 1 (PD-L1) ifadelerine yağ dokusu kökenlimezenkimal kök hücrelerin etkilerini araştırmayı amaçladık. Yöntemler: Bu amaçla MKH, MDA-MB-231 ve MCF-7hücrelerini artan dozlarda interferon gama (IFN-g) ile kültüre edildi. Başkabir kültür kabında MKH’ler ile tümör hücreleri trans-well insertler ve aynıIFN-g uyarımı ile kültür edildi. Kültür süresinin bitiminde HLA-G ve PD-L1ifadeleri flow-sitmotetri yöntemi ile IDO ifadeleri Luminex yöntemi ile analizedildi. Bulgular: Düşük dozlu IFN-g uyarımında (10 ng/mL),MSC'lerin MCF-7 hücrelerinin HLA-G ve PD-L1 ekspresyonunda önemli bir artışayol açtığını bulduk. Aksine, yüksek doz IFN-g ile (50 ng/mL) bu ifadelerin heriki tümör hücresinde de önemli ölçüde azaldığını gördük. Ek olarak, MDA-MB-231hücrelerinin IDO ekspresyonunun MSC'lerin varlığında anlamlı şekilde arttığını,ancak MCF-7 hücrelerinin etkilenmediği gördük. Sonuç: Sonuç olarak, MDA-MB-231 hücreleri içinMSC'ler, sitotoksik hücrelerin baskılanmasında ve T hücrelerinin tükenmesindeönemli bir rol oynayan HLA-G ve PD-L1 ekspresyonunu azalttığı için koruyucu birrol oynayabilir. Öte yandan, MSC'ler yüksek IDO seviyeleri için önemli birkaynak olabilir ve bu nedenle anti-tümör immün yanıtı olumsuz yönde etkileyebilir.Bununla birlikte, verilerimiz diğer çalışmalarla desteklenmelidir., Aim:Mesenchymal stem cells (MSCs) are strong immunomodulatory cells and a componentof the tumor microenvironment. In this study, we aimed to investigate theeffects of MSCs derived from adipose tissue on the expressions of immuneevasive molecules indoleamine 2,3-dioxygenase (IDO), human leukocyte antigen G(HLA-G) and programmed death-ligand 1 (PD-L1) of breast tumor cell linesMDA-MB-231 and MCF-7. Methods:For this purpose, MSCs, MDA-MB-231 and MCF-7 cells were cultured with increaseddoses of interferon gamma (IFN-g). In another plate, tumor cells were culturedin transwell inserts using the same IFN-g stimulation to evaluate the effect ofMSCs. At the end of the culture period, the HLA-G and PD-L1 expression wasdetected by flow cytometry, and IDO expression by the Luminex method. Results:We found that in low-dose IFN-g stimulation (10 ng/mL), MSCs led to asignificant increase in the HLA-G and PD-L1 expression of MCF-7 cells. On thecontrary, at a high dose of IFN-g (50 ng/mL), their expression significantlydecreased in both tumor cells. In addition, we observed that the IDO expressionof MDA-MB-231 cells was significantly increased in the presence of MSCs, butMCF-7 cells were not affected. Conclusion:In conclusion, for MDA-MB-231 cells, MSCs may play a protective role because theyreduce the expression of HLA-G and PD-L1 that are involved in the suppressionof cytotoxic cells and exhaustion of T cells. On the other hand, MSCs may be animportant source of high IDO levels, and therefore may negatively affect theantitumor immune response. However, our data should be supported by furtherstudies.

WOS: 000471326300002, Background: Infantile nephrotic syndrome (INS) refers to disease that is present after the first three months of life up to one year of age. There is genetic heterogeneity and genotype-phenotype correlation is not clear. Objectives: The focus of the present study was to analyze genotypic and phenotypic features of both NPHS1 and NPHS2 genes in INS. Methods: Clinical data, mutational analysis, histology, treatments, and outcomes of 48 children with NS are evaluated. A direct sequencing of NPHS1 gene and NPHS2 gene was performed. Patients were classified into 3 groups; group 1: cases having only NPHS1 mutation; group 2: cases with only NPHS2 mutation; group 3: cases without any mutation. Results: The mean age at onset of the disease was 8.7 +/- 2.3 months, and mean follow-up time was 8.3 years. Seven familial and 41 sporadic cases of INS were found. Kidney biopsy was performed in 45 out of 48 patients and pathological investigations revealed focal segmental glomerulosclerosis in 29 (65%), IgM nephropathy in 6 (13%), and minimal change disease in 10 patients (22%). There were 5 (10.4%) cases in groups (patients having only mutations of NPHS1)and 13 cases (27%) in group 2 (patients having only mutations of NPHS2). Thirty cases (62.5%) had neither NPHS1 nor NPHS2 mutation (group 3). Conclusions: The genotypic and phenotypic features of INS were demonstrated. We found that INS with podocin mutation has poor prognosis according to exonal distribution. NPHS1 mutations caused a severe disease but with a more favorable prognosis.

WOS: 000463332100016, PubMed ID: 30968627, Brugada syndrome, an arrhythmogenic disease, occurs due to mutations involving cardiac sodium channels. It is characterized by persistent or transient ST-segment elevation in the right precordial electrocardiogram leads that could be unmasked by several circumstances, with fever particularly. Molecular and cellular mechanisms leading to Brugada syndrome have not been completely elucidated. Mutations of the SCN5A gene encoding the pore-forming alpha-subunit of the cardiac sodium channel protein have been attributed in the molecular diagnosis. Although this syndrome is well-known in adults, it is less frequently reported in infants and children. We describe a 9-year-old Turkish boy with a family history of sudden cardiac death, who presented with chest pain and fever-induced expression of the Brugada syndrome phenotype that might be associated with a mutation in SCN5A gene.

Introduction Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy, which develops as a result of defective activity of the alternative complement pathway and excessive complement activation due to genetic or acquired factors. No satisfactory responses were obtained by plasmapheresis, corticosteroids and fresh frozen plasma (FFP) transfusion. However, promising results are obtained in recent years by eculuzimab treatment, which inhibits C5 activation. Objective To evaluate the efficacy, safety and effect of eculizumab on quality of life of adult aHUS patients followed in our center. Materials and Methods Seven patients who received eculizumab treatment in single center between the years 2012 and 2016 due to aHUS diagnosis were retrospectively evaluated. Patients were diagnosed with aHUS in accordance with certain criteria, after eliminating all the other factors caused by thrombotic microangiopathy. Complement gene mutations were completed in six patients. All patients received eculizumab as recommended (900 mg/per two weeks) following plasmapheresis, FFP, corticosteroid and hemodialysis (HD) treatments. Results Four out of seven patients were men and three were women; average patient age was 51.1 (26–69) years and average duration of disease was 25.3 (2–45) months. Average period from the initial complaints of the patients up to aHUS diagnosis was 4.2 (2–13) months. Tests were implemented on six patients for complement gene mutations, and complement factor H (CFH) homozygous mutation was identified in three patients. Complete remission was observed in four patients and partial remission in two patients after eculizumab; however, one patient died. Plasmapheresis was discontinued in patients with complete remission, whereas two patients with partial remission continued the HD program, despite normalization in hematologic parameters. Significant improvement was observed in post-treatment quality of life in all six patients who currently continue eculuzimab treatment. No transfusion reaction and/or no serious infections were observed in any of the patients, while URTI (upper respiratory tract infection) was observed in one patient. Discussion Eculizumab is an effective and safety treatment option in adult aHUS patients. Early diagnosis and initializing eculizumab therapy at an early stage may decrease mortality and morbidity in patients with aHUS. New studies are required on this topic.

WOS: 000388033500006, PubMed ID: 27357501, Nucleotide binding and oligomerization domains/caspase recruitment domain-containing protein 15 (NOD2/CARD15) is a cytoplasmic molecule controlling apoptosis and inflammatory processes by recognizing some microbial components. We aimed to identify the frequencies of NOD2/CARD15 gene mutations in patients with gouty arthritis and to determine their possible correlation with the disease phenotype. The study included 93 patients with gouty arthritis and 51 healthy controls matched for age, gender, and ethnicity. The NOD2/CARD15 R702W and G908R gene mutations were explored by the polymerase chain reaction restriction fragment length polymorphism method while the 3020insC mutation was analyzed by DNA sequencing. The mean patient age was 54.2 +/- 14.2 years and mean duration of the disease was 3.1 +/- 2.9 years. The first metatarsophalangeal and finger joint involvements were detected in 72 (77.4%) and 18 (19.5%) patients, respectively. Ankle arthritis and knee arthritis were detected in 43 (46.2%) and 20 (21.5%) patients, respectively. In total, 4 (9%) heterozygous mutations were detected in the G908R and R702W genes, while no mutation was detected in the 3020insC gene. Compared to the control group, there were no significant differences in all three DNA regions (G908R, R702W, and 3020insC; p = 0.452, p = 0.583, and p = 0.350, respectively). No correlation between the NOD2/CARD15 variants and clinical or laboratory findings (p > 0.05) was found. The frequencies of the NOD2/CARD15 gene mutations in the patients were similar to healthy control group. No association between clinical or laboratory findings and the NOD2/CARD15 gene mutations was observed., scientific research project committee of Sifa University, This work was supported by the scientific research project committee of Sifa University.

Gouty arthritis is a chronic erosive autoinflammatory disease. Pyrin has anti-inflammatory effects in the regulation of inflammasome and is encoded by the MEFV gene. The relationship between different rheumatic diseases and the MEFV gene mutations was demonstrated. The aim of this study was to determine the frequency of MEFV gene mutations in patients with gouty arthritis and identify a possible correlation with disease phenotype. Ninety-three patients with gouty arthritis and 102 healthy controls, compatible with age, gender and ethnicity, were included in the study. MEFV gene mutations were investigated by PCR method. Out of 93 patients with gouty arthritis, 36 (38.7 %) showed MEFV gene mutations carriage, whereas 20.6 % in healthy control group. Distribution of mutations identified in patients with gouty arthritis was as; R202Q in 18 (19.3 %), E148Q in 5 (5.4 %), K695R in 4 (4.3 %), M680I in 2 (2.1 %), V726A in 2 (2.1 %), P369S in 2 (2.1 %), R408Q in 2 (2.1 %), M694 V in 1 (1.1 %), respectively. Three patients were identified with compound heterozygosity. Distribution of MEFV gene mutations carriage in healthy controls was; E148Q in 11 (10.7 %), M694 V in 2 (1.9 %), M694I in 1 (0.9 %), M680I in 2 (1.9 %), V726A in 1 (0.9 %), A744S in 1 (0.9 %), K695R in 2 (1.9 %), and P369S in 1 (0.9 %) patients, respectively. Higher MEFV gene mutations carrier frequency was observed in patients with gouty arthritis, compared with the control group (p = 0.009). Heterozygous R202Q was the most common mutation detected in patients with gouty arthritis, while heterozygous E148Q in healthy control group. Statistically significant difference was not detected between clinical findings of gouty arthritis and the MEFV gene mutations (p > 0.05). We determined higher prevalence of MEFV gene mutations in patients with gouty arthritis compared with the healthy control group. The most frequently detected mutation was heterozygous R202Q, whereas E148Q in healthy controls. High carriage rates of MEFV gene mutations in gouty arthritis suggest that it may play an important role in the pathogenesis of the disease and predisposition to the disease.