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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.

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.

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.

[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.

[No Abstract Available]

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.

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

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.

Hashimoto's disease is a polygenic disorder with complex etiopathogenesis. The imbalance between pro- and anti-inflammatory cytokines may play a role in the etiology. We aimed to evaluate the relation between 174 promoter region of the interleukin 6 rs1800795 gene polymorphism in patients with Hashimoto's thyroiditis (HT). We studied 110 HT patients and 110 healthy controls. The evaluation of genotype for interleukin 6 rs1800795 gene polymorphism were performed by using PCR-RFLP method. The genotype of IL6 distribution did differ between the control group (CC 17.3%, GC 78.2%, GG 4.5%) and the HT patients (CC 29.1%, GC 46.4%, GG 24.5%) (p 0.05). Our results indicate that interleukin 6 rs1800795 polymorphism may be associated with susceptibility to HT in Turkish Patients. It is necessary to confirm the results and determine the underlying pathogenic mechanisms in further studies.

Atypical hemolytic uremic syndrome (aHUS) is associated with mutations or antibodies that affect the regulation of the alternative complement pathway. In the recent years several studies have been published describing these mutations. In this study, the initial clinical findings, treatments and long-term follow-up results of 19 patients who were hospitalized with the diagnosis of aHUS were presented.Nineteen patients who were diagnosed as aHUS were enrolled from January 2010 to March 2017. Initial clinical signs and clinical follow-up of patients with aHUS were evaluated. Disease causing complement factor H (CFH) mutations were determined. Results. CFH mutations were detected in 5 of 19 aHUS cases. Of these, one was novel and 4 were previously reported. We reported here the clinical course of aHUS patients with CFH mutations (p.Glu936Asp, Val 1197Ala) and a novel mutation (Glu927Lys) which caused previously defined aHUS. Two of the CFH mutation cases developed end stage kidney disease that required hemodialysis, 1 case developed chronic kidney disease. Two cases were in remission, one of them with supportive therapy and the other case was in remission with eculizumab treatment.Morbidity rate is higher in children with aHUS. The renal prognosis and morbidity rate is higher in children with CFH mutations than other children with aHUS. Poor prognosis in aHUS children with CFH mutation depends on the genetic background.

WOS: 000438380400011, PubMed ID: 29745120, Complement mediated hemolytic uremic syndrome which is caused by excessive activation of the alternative complement system is a thrombotic microangiopathy. The disease frequently occurs as a result of mutations in the genes that regulates complement proteins. Complement factor H gene has the most common mutations. A nine-month-old male patient was transferred to pediatric intensive care unit with the diagnosis of hemolytic uremic syndrome. Nonsense heterozygous p.Arg1215X mutation in the complement factor H gene was detected. The patient who had pulmonary, intestinal and hepatic involvement accompanying acute renal failure was successfully treated with therapeutic plasma exchange and eculizumab. Nonsense heterozygous p.Arg1215X mutation is extremely rare and can cause severe hemolytic uremic syndrome. As far as we know, our patient is the third case with this mutation in the literature.

Background: Severe combined immunodeficiency (SCID) syndromes are a heterogenous group of diseases characterized by impairment in both cellular and humoral immunity with a range of genetic disorders. Complete recombinase activating gene (RAG) deficiency is associated with classical T - B - NK + SCID which is the most common phenotype of Turkish SCID patients. There is a broad spectrum of hypomorfic RAG mutations including Omenn syndrome, leaky or atypical SCID with expansion of γδ T cells, autoimmunity and cytomegalovirus (CMV) infections. Methods: Twenty-one (44%) patients had RAG1 deficiency of all 44 SCID patients followed up by pediatric immunology department. A retrospective analysis was conducted on the medical records of all SCID patients with RAG1 deficiency. Results: Eight patients were classified as T - B - NK + SCID, five patients as T + B - NK + SCID (three of these were Omenn phenotype), and eight patients as T + B + NK + SCID phenotype. Mean age of the whole study group, mean age at onset of symptoms and mean age at diagnosis were 87.7 ± 73.8 (12 - 256), 4.4 ± 8.2 (1 - 36) and 29.1 ± 56.8 (1 - 244) months, respectively. Consanguinity was present in 11 (52%) of 21 patients. Autoimmunity was found in six patients (28%). Ten patients (47%) had CMV infection, four (19%) had Epstein-Barr virus (EBV) infections and three (14%) had Bacillus Calmette-Guerin (BCG) infections. Seven patients who had refractory cytopenia (two pancytopenia and five bicytopenia) underwent bone marrow biopsy, three of whom had bone marrow fibrosis. Future evaluations must be considered about bone marrow fibrosis in RAG1 deficiency patients. Eosinophilia was observed in 10 patients, seven of whom did not have Omenn phenotype. Conclusion: Non-Omenn phenotype RAG1 deficiencies can also present with eosinophilia. This report is presented to emphasize that RAG1 mutations may lead to diverse clinical phenotypes. J Clin Med Res. 2016;8(5):379-384 doi: http://dx.doi.org/10.14740/jocmr2316w

Introduction Several studies have attempted to define the diagnostic criteria of the geriatric syndrome sarcopenia. Studies of sarcopenia prevalence in Turkey are limited; one reason for this is the absence of standard diagnostic reference values. The aim of this study was to investigate the prevalence of sarcopenia and its influencing factors in the local elderly nursing home residents in accordance with the EWGSOP consensus report. Materials and methods The study included a total of 211 nursing home residents. Anthropometric measurements, muscle mass, muscle strength and physical performance were examined. Muscle mass of the nursing home residents was compared to an 18–45-year-old healthy control group. Descriptive values for numerical variables are given as mean, standard deviation; categorical variables are shown as frequency and percentage. Results A total of 211 nursing home residents were included in the study. The average age was 77.30 ± 7.20; the participants were 58.8% women and 37.4% young-old. The prevalence of sarcopenia in Turkish nursing home residents was found to be 33.6%. Among sarcopenic participants, 32.4% were women and 67.6% were men. In our study, sarcopenia was more prevalent in men, the young-old, and patients with Parkinson's or chronic obstructive lung disease, while sarcopenia was seen less in obese patients. No relationship was found between the Barthel index and sarcopenia. Conclusions Sarcopenia prevalence was 33.6% when the diagnostic criteria described by the EWGSOP were used. Sarcopenia prevalence was higher in men and the young-old age groups. Sarcopenia was more frequent in nursing home residents with malnutrition or risk of malnutrition.

WOS: 000219054200003, Aim: Glycogen storage disease type 1 is characterized with hypertriglyceridemia which does not lead to atherosclerosis. The human intercellular adhesion molecule-1 gene has been shown to be affected in atherosclerosis and postprandial hypertriglyceridemia. Materials and Methods: In the present paper, the authors genotyped the Glu241Arg polymorphism in the intercellular adhesion molecule-1 gene in 35 patients with Glycogen storage disease type 1 and 108 healthy controls. Results: The results indicated a significant decrease in the frequency of the GG genotype in Glycogen storage disease type I patients compared to healthy controls. In addition, a significant correlation between the GG genotype and triglyceride levels was seen in Glycogen storage disease type 1 patients. Conclusion: It is thus concluded that the GG genotype could protect Glycogen storage disease type I patients from the development of atherosclerosis.

BACKGROUND The aim of the study was to investigate the effects of colchicine on cytokine production, apoptosis, alveolar bone loss, and oxidative stress in an experimental model of periodontitis in rats. METHODS Forty-eight rats were divided equally into four groups: healthy (H); periodontitis (P); periodontitis+colchicine low dose (CL, 30 μg/kg/day), and periodontitis+colchicine high dose (CH, 100 μg/kg/day). After 11 days, interleukin (IL) -1β, IL-8, and IL-10 were analyzed in gingival samples using Enzyme-Linked ImmunoSorbent Assay. Receptor activator of nuclear factor kappa-B ligand (RANKL), osteoprotegerin (OPG), total oxidative stress (TOS), total antioxidant status (TAS), and oxidative stress index (OSI) were measured in gingiva and serum. Alveolar bone volume was evaluated via micro-CT. Apoptotic cells were detected by terminal deoxynucleotidyl transferase dUTP nick end labeling (TUNEL) assay in histological sections. RESULTS Colchicine treatment significantly reduced IL-1β, IL-8, RANKL, RANKL/OPG, TOS, OSI, and bone volume ratio levels, and increased TAS levels compared to group P (p

The aim of the present study is to investigate matrix metalloproteinase (MMP)-8 and tissue inhibitor of MMP-1 (TIMP-1) gene polymorphisms in generalized aggressive periodontitis (GAgP) and to assess the effects of MMP-8 and TIMP-1 genotypes on the outcomes of non-surgical periodontal therapy.Genomic DNA was obtained from peripheral blood of 100 patients with GAgP and 167 periodontally healthy controls. MMP-8 +17 C/G, -799 C/T, -381 A/G and TIMP-1 372 T/C, *429 T/G polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism. Patients with GAgP received non-surgical periodontal therapy and were followed for 6 months. Clinical periodontal parameters and gingival crevicular fluid (GCF) samples were collected at baseline and at follow-up visits. GCF biomarkers were analyzed by immunofluorescence assay and enzyme-linked immunosorbent assay.Distribution of the MMP-8 -799 C/T genotypes was significantly different between the GAgP and control groups (P0.005). TIMP-1 372 T/C and *429 T/G genotypes in males were also significantly different between study groups (P0.004). GCF MMP-8 levels decreased until 3 months after non-surgical therapy compared with baseline in T and G alleles, as well as G and C allele carriers (P0.0125), whereas no significant decreased was observed in non-carriers (P0.0125).On the basis of the present findings, it can be suggested that MMP-8 -799 C/T and TIMP-1 372 T/C, *429 T/G gene polymorphisms in males may be associated with the susceptibility to GAgP in the Turkish population.

Microorganisms adhere to uroepitelium and trigger adaptive immune response with synthesis of chemokine’s and cytokines. Chemokine and chemokine receptors lead to recruitment of inflammatory cells results in inflammatory response: healing or scaring. FcR initiates effector functions: degranulation, cytokine, superoxide production, and arrangement of antibody synthesis, antibody dependent cellular cytotoxicity, and phagocytosis. Aim was to determine FcγR polymorphism role in urinary tract infection (UTI). 131 UTI and 151 healthy subjects without any urinary tract abnormality were participated. Polymorphisms were determined by amplification refractory mutation system PCR. FcγRIIa R/R genotype and FcγRIIa R allele are found significantly higher in study group than control. FcγRIIIa genotype distribution and allele frequency is not significantly different between UTI and control group. FcγRIIIb-NA2/NA2 genotype and NA2 allele are found statistically higher when compared to control FcgRIIa-131-R allele is found to be related; lower UTI (p=0.015), gram negative bacterial infection risk (p=0.012) FcgRIIIb-NA2 allele is found to be related; upper UTI (p=0.001) gram negative bacterial infection (p=0.001), renal scar development risk (p=0.001). FcγRIIa-R131R and FcγRIIIb-NA2/NA2 gene polymorphisms may increase risk and susceptibility to UTI in children.

The researchers investigated the relationship between intense training, the catechol-Omethyltransferase (COMT) Val108/158Met gene polymorphism, and alexithymia. Eighteen female and 77 male athletes...

Congenital nephrotic syndrome (CNS) is a rare disease inherited as an autosomally recessive trait and defined as proteinuria manifesting at birth or in the first 3 months of life. The classical form is the Finnish type of CNS (CNF), which is caused by mutations in the nephrin gene (NPHS1). The classical findings include prematurity, large placenta and massive proteinuria. Minor cardiac findings have been reported as a minor functional disorder but CNS with major cardiac malformation is rare. Here we report the case of a Turkish child with CNS with small indel mutation (c.614_621delCACCCCGGinsTT) in exon 6 of NPHS1 and also major cardiac malformation who did not develop end-stage renal disease until the age of 5 years.

Aim: Metabolic syndrome (MetS) is a major risk factor for both diabetes mellitus and cardiovascular disease (CVD). The aims of the study were 1) to investigate the insulin receptor substrate-1 (IRS-1) and insulin receptor substrate-2 (IRS-2) gene polymorphisms in patients with MetS and 2) to examine the relationships between gene polymorphisms and components of MetS. Patients & Methods: The study population included 100 patients with MetS and 30 patients without MetS as control group. Metabolic syndrome (MS) was defined as in ATP III. Entire coding exons of IRS-1 and IRS-2 genes were amplified by polymerase chain reaction (PCR). Insulin resistance (IR) was estimated using the homeostasis model assessment (HOMA). Results: In patients with MetS, 34 (34%), had G972R (rs1801278) gene polymorphism and 66 (66%) had no nucleotide substitutions at the IRS-1 gene (p circumference, blood pressure, triglyceride, HDL-Cholesterol, LDL-Cholesterol and HOMA-IR levels. Conclusion: Insulin receptor substrate-1 and 2 gene polymorphisms were associated with metabolic syndrome but not its components.

We aims investigate Turkish type 2 diabetic patients with/without diabetic foot ulcers and healthy group and examined the contribution of Interleukin (IL)-6 -174 GC gene polymorphism to the development of diabetic foot ulcers.The Interleukin (IL)-6 -174 GC genotypes were determined prospectively in 50 patients with diabetic foot ulcers and 35 without diabetic foot ulcers and a control group of 119 healthy individuals. Genotyping of the Interleukin (IL)-6 -174 GC gene polymorphisms for all individuals was performed by PCR-RFLP method.The genotype IL6 distribution did differ between the control group (CC 13.3%, GC 66.7%, GG 20%) and type 2 diabetic patients (CC 2.4%, GC 47.1%, GG 50.6%) (P0.001). The genotype IL6 distribution did not differ between type 2 diabetic patients group (CC 0%, GC 45.7%, GG 54.3%) and diabetic foot ulcers (CC 4%, GC 48%, 48%) (P0.05). The frequency of the polymorphic G allele in between the control group and type 2 diabetic patients was no similar for the groups (58.4% and 74.1%, respectively) (p0.05). The frequency of the polymorphic G allele in between the type 2 diabetic patients and diabetic foot ulcers was similar for the groups (77.1% and 72%, respectively) (p0.05).The gene polymorphism of Interleukin-6 -174 GC and G allele are an risk factor for diabetes, but gene polymorphism of Interleukin-6 -174 GC is not an independent risk factor for diabetic foot. Genetic factors in the pathogenesis of diabetic foot may also show any changes in different populations.

Sarcoidosis is a chronic granulomatous disease. Pyrin has anti-inflammatory activity in the regulation of inflammasomes and is encoded by the Mediterranean fever (MEFV) gene. MEFV gene mutations trigger the inflammatory cascade and cause familial Mediterranean fever (FMF). A relationship between various rheumatic diseases and MEFV gene mutations has been demonstrated. The aim of this study was to determine the prevalence of the MEFV gene mutation in Turkish patients with sarcoidosis and to detect any possible correlation with disease phenotype.The study included 78 sarcoidosis patients and 85 healthy subjects matched for age, gender, and ethnicity. MEFV gene mutations were investigated with the FMF strip assay, which is based on reverse hybridization of biotinylated polymerase chain reaction (PCR) products.Of the 78 patients with sarcoidosis, nine (11.5%) were found to be carriers of MEFV gene mutations. The distribution of these nine mutations were: three (3.8%) V726A, two (2.5%) E148Q, two (2.5%) M680I, one (1.3%) A744S, and one (1.3%) K695R. Carriers of M694V, M694I, R761H, and P369S were not detected in any of the sarcoidosis patients. None of the sarcoidosis patients were found to be compound heterozygous carriers. The prevalence of the MEFV gene mutation carrier detected in the healthy control group was 22.4%. The distribution of the 19 MEFV gene mutations found in the healthy controls was: nine (10.6%) E148Q, two (2.3%) M694V, one (1.2%) M694I, one (1.2%) M680I, two (2.3%) V726A, one (1.2%) A744S, two (2.3%) K695R, and one (1.2%) P369S. When compared with the control group, a lower prevalence of the MEFV gene mutation carrier was found in sarcoidosis patients but this was not statistically significant (p = 0.067). In nine patients found to be MEFV gene mutation carriers, higher serum erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) levels and higher numbers patients with arthritis, enthesitis, and ankle arthritis were found (p = 0.01, p = 0.04, p = 0.028, p = 0.05, p = 0.05, respectively).When we compared Turkish sarcoidosis patients with the healthy control group, we found a lower prevalence of MEFV gene mutations. In sarcoidosis patients, the MEFV gene mutation carrier was found to be related to high acute-phase responses, arthritis, and enthesitis. The existence of MEFV gene mutations may have a preventive role with regard to the development of sarcoidosis. Prospective studies that include larger patient populations are needed.