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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.

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