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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.

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.

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: 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.

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.