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Gut microbiota regulates immunological response, oxidative stress, and intestinal cell cycle. Aging, poor diets, and sedentary lifestyles may change microbiota composition, causing obesity, diabetes, and many forms of cancer, including colorectal cancer. Caloric restriction (CR) increases healthy longevity, although its long-term implications are not well known. This research examines the effects of chronic and intermittent CR on colonic health and their potential benefits.10 weeks old female C57BL/6 mice were enrolled into three dietary groups: ad libitum (AL), chronic caloric restriction (CCR), and intermittent caloric restriction (ICR)(n=20 in each group). CCR group was applied to 15 % of restriction compared to AL group, while mice in ICR groups were applied to 60 % of restriction for one week (ICR-R) followed by AL diet for three weeks (ICR-RF) in a cyclic manner starting at 10 weeks of age until 81/82 weeks. The stool samples from caecum were collected at four different time points: week 10 (baseline), week 17/18, week 49/50, and week 81/82 (each week, n=5). The samples were homogenized in buffer solution. The microbiota composition was examined using 16S rRNA amplicon sequencing and metagenomic analysis. Total DNA was extracted and bacterial 16S rRNA V3-V4 gene regions were amplified. The sequencing was carried out using the iSEQ100 system (Illumina) pair-end read type and two reads of 151 bp read length. The sequencing data were analyzed by 16S Metagenomic software to determine the taxonomic distribution of bacterial communities from the kingdom to the species level.Barnesiella, Clostridium, and Eisenbergiella were the most prevalent genera across all diet types. In the AL group, Clostridium species grew by 14% from week 10 to week 82 in caecum stool samples. In the CCR group, the 12% increase in Clostridium species at week 50 of mouse age relative to baseline group was recovered by week 80. Eisenbergiella species in the ICR-R group declined by 14% in week 80 compared to baseline levels, but Clostridium species remained unchanged. In the ICR-RF group, Barnesiella species rose by about 17% between weeks 10 and 17, but returned to baseline by week 80. In addition, Eisenbergiella species declined by about 9 percent in week 17 of the ICR-RF group, but afterwards returned to baseline. Eisenbergiella species reduced across diet groups in all groups except the ICR-RF group. The relative abundance of Barnesiella species rose in the AL and CCR groups, whereas it was maintained in the ICR-RF and reduced in the ICR-R group. When comparing all groups, the rise in the amount of Clostridium species was only detected in the older AL groups.The present study proves that CR, particularly ICR, is very efficient in maintaining or restoring a healthy microbiome composition against age-related alterations. In addition, the current research reveals that changes in microbiota profile in the cancer-preventive effects of CR depend on the type of caloric intake. Atilim University Research Funds; ATU-BAD-2122-03 This is the full abstract presented at the American Physiology Summit 2023 meeting and is only available in HTML format. There are no additional versions or additional content available for this abstract. Physiology was not involved in the peer review process.

DNA transposable elements and transposase-derived genes are present in most living organisms, including vertebrates, but their function is largely unknown. PiggyBac Transposable Element Derived 5 (PGBD5) is an evolutionarily conserved vertebrate DNA transposase-derived gene with retained nuclease activity in cells. Vertebrate brain development is known to be associated with prominent neuronal cell death and DNA breaks, but their causes and functions are not well understood. Here, we show that PGBD5 contributes to normal brain development in mice and humans, where its deficiency causes disorder of intellectual disability, movement and seizures. In mice, Pgbd5 is required for the developmental induction of post-mitotic DNA breaks and recurrent somatic genome rearrangements in neurons. Together, these studies nominate PGBD5 as the long-hypothesized neuronal DNA nuclease required for brain function in mammals.One-Sentence SummaryPiggyBac Transposable Element Derived 5 (PGBD5) is required for brain development in humans and mice by promoting somatic neuronal genome rearrangements.

Amaç: Bu çalışma, tip 1 tirozinemi hastalarında kardiyomiyopati sıklığını ve rutin olarak kullanılan nitisinon tedavisine yanıtını retrospektif olarak değerlendirmeyi amaçlamıştır.Gereç ve Yöntem: Tanımlayıcı ve kesitsel olan bu çalışmadaki olgular, tek bir metabolizma ünitesinin takibinde olan Tirozinemi Tip 1 hastalarıdır. Çalışmanın önceliği tanı anında “anormal ekokardiyografik bulguların varlığını” ve nitisinon tedavisinin bu bulgulara etkisini değerlendirmektir. Bulgular: Çalışmaya alınan 54 hastanın 21'i (%38,9) kız, 33'ü (%61,1) erkekti. 41 hasta tanı anında ekokardiyografi ile değerlendirildi. Dokuzunda (%21,9) farklı şiddette hipertrofik kardiyomiyopatik değişiklikler mevcuttu. Takip döneminde yapılan ikincil ekokardiyografik incelemeler, nitisinon tedavisinin kardiyak durumda iyileşmeye sebep olduğunu ortaya koydu. On üç hasta takipleri bıraktı. Geriye kalan 41 hastanın 10’u (%24,4) kaybedildi, 31 (%75,6) hasta ise hayatta kaldı. Ekokardiyografik değişiklikleri olan hastalar, ekokardiyografik anormalliği olmayan hastalarla karşılaştırıldığında, plazma aspartat aminotransferaz (AST), total bilirubin ve direkt bilirubin konsantrasyonları açısından istatistiksel olarak anlamlı farklılıklar bulundu Sonuç: Kardiyak bulgusu olmayanlar da dahil olmak üzere tüm tirozinemi tip 1 hastalarında ekokardiyografik inceleme yapılmalıdır. Kardiyomiyopatinin varlığı kötü bir prognoza işaret edebilir. Nitisinonun tip 1 tirozinemili hastalarda kardiyomiyopati üzerinde olumlu bir etkisinin olduğu bulunmuştur., Purpose: This study aimed to retrospectively evaluate the frequency of cardiomyopathy and its response to routinely used nitisinone treatment in patients with tyrosinemia type 1.Materials and Methods: Participants of this descriptive cross-sectional study were Tyrosinemia Type 1 patients who were under the care of a single metabolic unit. The primary outcome of the study was “presence of abnormal echocardiographic findings” at diagnosis and the impact of nitisinone treatment on the detected findings.Results: Of the 54 patients enrolled in the study, 21 (38.9%) were female and 33 (61.1%) were male. 41 patients were evaluated using echocardiography at the time of diagnosis. 9 (21.9%) of them had hypertrophic cardiomyopathic alterations varying in severity. In the follow-up period, second echocardiographic examinations revealed improvements in cardiac alterations while on nitisinone treatment. Thirteen patients dropped out of follow-up. Of the remaining 41 patients, 10 (24.4%) patients died in the follow-up period, whereas 31 (75.6%) remained alive. Plasma aspartate aminotransferase (AST), total bilirubin, and direct bilirubin concentrations were significantly higher in patients witj normal cardiac evaluation.Conclusion: Echocardiographic examination should be done in all tyrosinemia type 1 patients including those with an absence of cardiac manifestations. The presence of cardiomyopathy may indicate a poor prognosis. Nitisinone is found to have a positive impact on cardiomyopathy in patients with type 1 tyrosinemia.

Aim:To investigate cardiac involvement in patients diagnosed with mucopolysaccharidosis type III (MPS III) in a university hospital in Turkey.Materials and Methods:This descriptive cross-sectional study was performed in a university hospital by examining the files of 49 MPS III patients who were admitted between January 1998 and December 2019.Results:The mean age of the participants was 12.24±5.21 years (range: 1-26). The mean age at which the patients underwent echocardiography was 6.90±4.82 years. MPS IIIA, IIIB, IIIC, and IIID subtypes were present in 24 (49.0%), 19 (38.8%), 5 (10.2%), and 1 (2.0%) patient, respectively. Among the MPS III patients who had echocardiographic evaluation (n=44), 32 patients (72.7%) had pathological cardiac findings, while 12 patients (27.3%) had normal cardiac findings on echocardiographic examination. The most common cardiac pathologies were those related to mitral valve [valve insufficiency 52.3% (n=27), valve thickening 43.2% (n=25), and prolapse 38.6% (n=23)]. Tricuspid insufficiency (34.8%, n=8) was seen only in MPS IIIA. Mitral insufficiency and aortic valve thickening were significantly more common among females (p=0.014, p=0.025, respectively).Conclusion:Patients with MPS III should be closely monitored for cardiac pathologies and especially mitral valve insufficiency, which are more prevalent among females.

Objectives Lysosomal storage diseases (LSD) constitute an important group of metabolic diseases, consisting of approximately 60 disorders. In some types of lysosomal diseases, enzyme replacement therapy (ERT) is administered intravenously in weekly or biweekly doses. Unfortunately, scheduled ERT during COVID-19 was disrupted. We considered the possibility of adverse outcomes caused by the disruption in the treatment of patients with lysosomal storage disorders. Methods During the COVID-19 pandemic, we conducted a questionnaire that was delivered via Internet to assess how this vulnerable patient group was affected by the pandemic in terms of their access to treatment and their disease-related symptoms. Results The questionnaire was filled out by 75 patients. There were 35 patients whose treatment dose was missed because of COVID-19. The most common reason for skipping treatment was not wanting to go to the hospital for fear of contracting COVID-19. These 35 patients missed a median of four doses of ERT (range: 1–16 dosages). Twenty-one patients (60%) claimed that they were affected physically by not taking ERT (20 mucopolysaccaridoses, 1 Fabry disease), whereas 14 (40%) did not. Conclusions Interruption of ERT during the COVID-19 pandemic may have significant consequences. It may be beneficial to switch to home treatment or reserve dedicated facilities. With proper planning and management, the treatment disruptions of this particular group can be avoided.

Ayşegül Küçük,1,* Yücel Polat,2 Aydan Kılıçarslan,3 Nuran Süngü,3 Hakan Kartal,4 Ali Doğan Dursun,5,* Mustafa Arslan6 1Kutahya Health Sciences University, Medical Faculty, Department of Physiology, Kutahya, Turkey; 2Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, Department of Cardiovascular Surgery, Istanbul, Turkey; 3Yildirim Beyazit University, Medical Faculty, Department of Pathology, Ankara, Turkey; 4Gulhane Medical Faculty, Gulhane Education and Research Hospital, Department of Cardiovascular Surgery, Ankara, Turkey; 5Atilim University, Medical Faculty, Department of Physiology, Ankara, Turkey; 6Gazi University, Medical Faculty, Department of Anesthesiology and Reanimation, Ankara, Turkey*These authors contributed equally to this workCorrespondence: Mustafa ArslanGazi University, Medical Faculty, Department of Anesthesiology and Reanimation, Ankara, 06510, TurkeyTel +90 312 202 67 39Email mustarslan@gmail.comAim: The aim of this study was to evaluate the effects of irisin in a murine model of hind limb ischemia reperfusion (I/R).Methods: The mice were divided into four groups (n = 6 in each group): control, irisin, ischemia reperfusion (I/R), and irisin-ischemia reperfusion (I–I/R). Irisin (0.5 μg.g− 1, intraperitoneally [i.p.]) was administered 30 min before the I/R procedure. After 2 h of ischemia and 2.5 h of reperfusion, blood and tissue samples were taken for biochemical and histopathological analysis. The results were analyzed by Kruskal–Wallis and Mann–Whitney U-tests.Results: There was a statistically significant difference in the total antioxidant status (TAS) and total oxidant status (TOS) levels in all the groups. The TAS level in the I/R group was significantly lower than that in the control, irisin, and I–I/R groups, whereas the TOS level was significantly higher in the I/R group as compared with that in the other groups. Caspase-3 activity and caspase-8 activity, indicators of inflammation, were significantly higher in the I/R and I–I/R groups as compared with those in the control and irisin groups.Conclusion: Irisin may have protective effects in skeletal muscle ischemia reperfusion injury.Keywords: irisin, ischemia reperfusion, caspase-3, caspase-8, mice

Today, the cost of energy losses is very important because of the negativeeffects on the national economies. Transmission system losses are not desirablebut cannot be reset. In this context, our country’s interconnected transmissionsystem that occurred energy losses, balancing on March 28, 2015 and SettlementRegulation (BSR). What added in accordance with the provisions of the TemporaryArticle 27, Turkey Electricity Transmission Company (TEIAS) is left to theliability. Since the mentioned date, TEİAŞ has made its predictions as a marketparticipant in the day ahead market operated by Energy Markets OperationCompany (EPİAŞ) and has been obliged to purchase these amounts from the marketbefore the actual data appear. The average resource allocated by TEAIS for thetransmission system losses from the income ceiling is 1 500 000 000 TL. It allocates a significant portion of thisresource to forecast errors for the day ahead market. In this study, it isaimed to reduce the amount paid by making transmission system loss estimates inthe most accurate way and to contribute to the national economy especially inTEİAŞ. In this context, priority has been described as the interconnectedtransmission system losses and Turkey electricity market, are given informationabout artificial neural networks. Finally,in order to provide the data required, originally made software, TurkeyInterconnected Transmission Forecast program is described and the estimatesmade by means of artificial neural networks were compared on an hourly basiswith the actual transmission losses. If TEIAS uses this study in transmissionsystem loss estimations, it is foreseen to reduce the amount and the amount ofenergy imbalance., Günümüzde ülke ekonomilerine olumsuzetkileri nedeniyle enerji kayıplarının maliyeti oldukça önem arz etmektedir.İletim sistemi kayıpları istenilen bir durum olmamakla beraber sıfırlanması damümkün değildir. Bu kapsamda, ülkemiz enterkonnekte iletim sisteminde meydanagelen enerji kayıpları, 28 Mart 2015tarihinde Dengeleme ve Uzlaştırma Yönetmeliği(DUY)’ne eklenen geçici 27. maddehükümleri doğrultusunda, Türkiye Elektrik İletim Anonim Şirketi(TEİAŞ)yükümlülüğüne bırakılmıştır. Söz konusu tarihten itibaren Enerji Piyasalarıİşletme Anonim Şirketi(EPİAŞ) tarafından işletilen gün öncesi piyasasında TEİAŞpiyasa katılımcısı olarak ön görülerini yapıp, gerçekleşen veriler ortayaçıkmadan önce bu miktarları piyasadan satın almakla yükümlü hale getirilmiştir.TEAİŞ’ın iletim sistemi kayıpları için gelir tavanından ayırdığı kaynakortalama 1.500.000.000 TL, dir. Bu kaynağın, 150.000.000 TL’lik kısmını ise günöncesi piyasası için yapılan tahmin hatalarına ayırmaktadır. Bu çalışmada,iletim sistemi kayıp tahminlerinin en doğru şekilde yapılarak ödenen tutarınazaltılması ve TEİAŞ özelinde ülke ekonomisine katkı sağlanması amaçlanmıştır.Bu kapsamda, öncelikli olarak enterkonnekte iletim sistemi kayıpları ve Türkiyeelektrik piyasası anlatılmış, yapay sinir ağları hakkında bilgi verilmiştir.Son olarak, gerekli olan verilerin sağlaması amacıyla, özgün olarak yazılımıyapılan, Türkiye Enterkonnekte İletim Kaybı Tahmin programı olarak adlandırılanyazılım programı anlatılmış ve yapay sinir ağları aracılığıyla yapılantahminler, gerçekleşen iletim kayıpları ile saatlik olarak kıyaslanmıştır.Çalışmanın, TEİAŞ tarafından iletim sistemi kayıp tahminlerinde kullanmasıdurumunda, enerji dengesizlik miktarının ve tutarının azalması öngörülmektedir.

Acute metabolic decompensation (AMD) of maple syrup urine disease (MSUD) must be promptly recognized and treated. In this study, we aimed to identify simple variables associated with AMD in children with MSUD for use in emergency settings. Data were collected retrospectively from 115 emergency visits of 29 children with MSUD over a 4-year period in a major referral hospital. Variables in visits with and without AMD were compared using t test, Mann-Whitney U test, and chi-square test. Logistic regression was used to identify independent variables associated with decompensations. Cut-off values of laboratory variables were determined with receiver operating characteristic curves and correlations with Spearman's rank correlation. Most important variables independently associated with AMD were poor feeding, malaise, anion gap, and especially uric acid, which correlated with leucine levels. Vomiting, dehydration, neurological signs, ketonuria, and ketoaciduria were also associated with AMD. Although sodium, chloride, and glucose were lower in AMD, they had little diagnostic value.Conclusion: In children with MSUD, uric acid and anion gap are key markers for AMD. Poor feeding and malaise are clues before the onset of neurological symptoms. These simple parameters can help determine the presence of AMD in emergency settings.What is Known:• In maple syrup urine disease, acute metabolic decompensations are characterized by gastrointestinal and neurological findings.• Diagnosis requires detection of significantly elevated leucine, which may take a long time or not be available.What is New:• Poor feeding, malaise, hyperuricemia, and high anion gap are parameters that can help diagnose acute decompensations in children with maple syrup urine disease at emergency departments.• Uric acid may be a biomarker for acute decompensations because of its high sensitivity, specificity, and its strong correlation with leucine.

Bu araştırma spor yöneticiliği bölümü okuyan öğrencilerin mesleki kaygı durumlarının incelenmesi ve ortaya konan sonuçlara yönelik çözüm önerilerinde bulunmak amacıyla yapılmıştır. Araştırmanın evreni, Mehmet Akif Ersoy Üniversitesi ve Gazi Üniversitesi spor bilimleri fakültesi, spor yöneticiliği bölümleri 1.2.3 ve 4 sınıflarında okuyan öğrencilerden, örneklem grubu ise bu öğrencilerden gönüllülük esasına göre belirlenmiş 202 öğrenci oluşturmaktadır. Araştırmada veriler Karabudak (2015) tarafından geliştirilen, geçerlik ve güvenirliği yapılmış mesleki kaygı ölçeği ile elde edilmiştir. Ölçek, 1.Sosyal kaygı, 2.Danışan-İletişim merkezli kaygı, 3.İstihdam ile ilgili kaygı, 4.Ekonomik kaygı, 5.Kişisel gelişim-eğitim ile ilgili kaygı olmak üzere 5. alt boyuttan oluşmaktadır. Anketler örneklem gurubu ile bire bir görüşülerek, konu hakkında bilgi verildikten sonra gönüllülük esasına göre doldurulmuştur. Ankete 48 kadın,154 erkek olmak üzere toplam 202 katılımcı cevap vermiştir. Elde edilen veriler uygun istatistik programa aktarılarak, istatistik işlem olarak frekans (%), Independent- Samples T test uygulanmıştır. Farklılıkların tespitinde 0,05 anlamlılık düzeyi olarak kabul edilmiştir. Elde edilen verilerin değerlendirilmesi sonucunda, spor yöneticiliği bölümü öğrencilerinin genel olarak toplamda, mesleki kaygılarının yüksek olduğunu, cinsiyet değişkeninde ise kadınların erkeklere göre daha yüksek olduğunu söyleyebiliriz.

The aim of this study is toinvestigate the hopes of students studying in sports sciences in terms ofvarious socio-demographic characteristics and to reveal the differences. Thestudy group consisted of students (97 girls and 102 boys) from Gazi UniversityFaculty of Sport Sciences and Kafkas University Sarıkamış School of PhysicalEducation and Sports. As data collection tool, Hope Scale developed by Synderet al., (1991) and adapted to Turkish by Akman and Korkut (1993) was used. SPSS22 package program was used for data analysis. As a result of the research;while there was no difference in the level of hope of the students studying inphysical education teacher, sports management and coaching educationdepartments, there were significant differences between them according todepartment, class and family income., Bu çalışmanın amacı,üniversitelerin spor bilimleri alanında öğrenim gören öğrencilerin umutdüzeylerinin çeşitli sosyo-demografik özellikler açısından incelenerek,farklılıkların ortaya çıkarılmasıdır. Araştırmanın çalışma grubunu, GaziÜniversitesi Spor Bilimleri Fakültesi ile Kafkas Üniversitesi Sarıkamış BedenEğitimi ve Spor Yüksekokulu’ nda öğrenim gören öğrenciler (97 kız ve 102 erkek)oluşturmaktadır. Veri toplama aracı olarak, Synder ve arkadaşları (1991)tarafından geliştirilen ve Akman ve Korkut (1993) tarafından Türkçe’ yeuyarlanan Umut Ölçeği kullanılmıştır. Verilerin analizinde SPSS 22 paketprogramından yararlanılmıştır. Araştırmada sonuç olarak; beden eğitimiöğretmenliği, spor yöneticiliği ve antrenörlük eğitimi bölümlerinde okuyanöğrencilerin cinsiyet değişkenine göre umut düzeylerinde bir farklılıkbulunamazken, bölüm, sınıf ve aile gelir durumlarına göre aralarında anlamlıfarklılıklar olduğu tespit edilmiştir.

Objectives Neonatal-onset organic acidemias (OAs) account for 80% of neonatal intensive care unit (NICU) admissions due to inborn errors of metabolism. The aim of this study is to analyze clinical features and follow-up of neonates diagnosed with OAs in a metabolic referral center, focusing on perinatal characteristics and the impact of first the metabolic crisis on long-term outcome. Methods Perinatal features, clinical and laboratory characteristics on admission and follow-up of 108 neonates diagnosed with OAs were retrospectively analyzed. Global developmental delay, abnormal electroencephalogram (EEG) or brain magnetic resonance imaging (MRI), chronic complications, and overall mortality. Associations between clinical findings on admission and outcome measures were evaluated. Results Most prevalent OA was maple syrup urine disease (MSUD) (34.3%). Neonates with methylmalonic acidemia (MMA) had significantly lower birth weight (p Conclusions Metabolic acidosis and hyperammonemia are emerging predictors of poor outcome and mortality. Based on a large number of infants from a single center, survival in neonatal-onset OA has increased over the course of 30 years, but long-term complications and neurodevelopmental results remain similar. While prompt onset of more effective treatment may improve survival, newer treatment modalities are urgently needed for prevention and treatment of chronic complications.

Background Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism, the treatment of which often requires a special diet to prevent adverse neuropsychiatric outcomes. In the COVID-19 pandemic, which has had a substantial effect on the whole world since the beginning of 2020, PKU patients represent a vulnerable population because they may be dependent on special nutritional products, have limited access to routine care and display increased levels of anxiety. Methods For this reason, an online questionnaire assessing the anxiety levels and various personal opinions and practices regarding the pandemic was sent to the PKU patients managed at our clinic, who were 12 years of age or older. Ninety-eight patients responded to the questionnaire. Median age of the participants was 19 years. Results Most patients were compliant with the hygiene and social distancing recommendations regarding the spread of COVID-19. Of the patients, 61.2% felt more anxious since the pandemic. The most common concern was the possibility of not being able to obtain special nutritional products (58.2%). Anxiety level was significantly higher in females. Conclusions These data suggest that food security is an important issue of concern in PKU patients. In line with the changing world after the pandemic, different strategies should be considered in the management of patients with inborn errors of metabolism, including PKU.

Oxidative stress is associated with various disease pathologies including Inborn Errors of Metabolism (IEMs), among the most important causes of childhood morbidity and mortality. At least as much as oxidative stress in cells, reductive stress poses a danger to the disruption of cell homeostasis. p62/SQSTM1, protects cells from stress by activation of Nrf2/Keap1 and autophagy pathways. In this study, we tested the role of cellular stress, mitochondrial dysfunction and autophagy via Nrf2/Keap1/p62 pathway in the pathophysiology of three main groups of IEMs. Our results showed that antioxidant and oxidant capacity alone would not be sufficient to reflect the true clinical picture of these diseases. ATP, ROS and mitochondrial membrane potantial (MMP) measurements demonstrated increased cellular stress and bioenergetic imbalance in methylmalonic acidemia (MMA), indicating mild mitochondrial dysfunction. In isovaleric acidemia (IVA), no major change was detected in ATP, ROS and MMP values. Propionic acidemia (PA), mitochondrial diseases (MIT) and mucopolysaccharidosis IV (MPS IV) might point out mitohormesis to cope with chronic reductive stress. Induction of Nrf2/Keap1/p62 pathway and increased expression of HMOX1 were detected in all IEMs. LC3B-II and p62 expression results indicated an impaired autophagic flux in MIT and MPS IV and an induction of autophagic flux in MMA, PA and IVA, but also partial expression of Beclin1, enables autophagy activation, was detected in all IEMs. We conclude that individual diagnosis and treatments are of great importance in IEMs. In addition, we assume that the application of therapeutic antioxidant or preventive treatments without determining the cellular stress status in IEMs may disrupt the sensitive oxidant-antioxidant balance in the cell, leading to the potential to further disrupt the clinical picture, especially in patients with reductive stress. To the best of our knowledge, this is the first study to simultaneously relate IEMs with cellular stress, mitochondrial dysfunction, and autophagy.

A Surface Plasmon Resonance (SPR) aptasensor was developed for the detection of Brucella melitensis (B. melitensis) in milk samples. Brucellosis is a bacterial zoonotic disease with global distribution caused mostly by contaminated milk or their products. Aptamers recognizing B. melitensis were selected following a whole bacteria-SELEX procedure. Two aptamers were chosen for high affinity and high specificity. The high affinity aptamer (B70 aptamer) was immobilized on the surface of magnetic silica core-shell nanoparticles for initial purification of the target bacteria cells from milk matrix. Another aptamer, highly specific for B. melitensis cells (B46 aptamer), was used to prepare SPR sensor chips for sensitive determination of Brucella in eluted samples from magnetic purification since direct injection of milk samples to SPR sensor chips is known for a high background unspecific signal. Thus, we integrated a quick and efficient magnetic isolation step for subsequent instant detection of B. melitensis contamination in one ml of milk sample by SPR with a LOD value as low as 27 ± 11 cells.

Ersin Sar&inodot;çam,1,2 Ali Do&gbreve;an Dursun,3,4 Gülçin Türkmen Sar&inodot;y&inodot;ld&inodot;z,5,6 Nalan Can,7 Engin Bozkurt,1 U&gbreve;ur Gönüllü,8 Nihal Basay,9 Meral Türkmen,10 Abdülaziz Denli,11 Mustafa Ünlü12 1Department of Cardiology, Medicana International Ankara Hospital, Ankara, Turkey; 2Department of Cardiology, At&inodot;l&inodot;m University Medical School, Ankara, Turkey; 3Department of Physiology, At&inodot;l&inodot;m University Medical School, Ankara, Turkey; 4Check-up Center, Home Care Services, Medicana International Ankara Hospital, Ankara, Turkey; 5Department of General Surgery, Medicana International Ankara Hospital, Ankara, Turkey; 6Operating Room Services, Vocational School of Health Services, At&inodot;l&inodot;m University, Ankara, Turkey; 7Department of Nuclear Medicine, Medicana International Ankara Hospital, Ankara, Turkey; 8Department of Pulmonary Medicine, At&inodot;l&inodot;m University Medical School, Ankara, Turkey; 9Department of Pulmonary Medicine, Medicana International Ankara Hospital, Ankara, Turkey; 10Department of Internal Medicine, Medicana International Ankara Hospital, Ankara, Turkey; 11Department of Physical Medicine and Rehabilitation, Medicana International Ankara Hospital, Ankara, Turkey; 12Department of Nuclear Medicine, Gazi University Medical School, Ankara, TurkeyCorrespondence: Ersin Sar&inodot;çamDepartment of Cardiology, Medicana International Ankara Hospital, Sö&gbreve;ütözü Cd. 2165. Sokak No: 6, Sö&gbreve;ütözü, Ankara, 06520, TurkeyTel +90 5324066440Fax +90 3122203170Email saricamersin@yahoo.comBackground: In the post-acute COVID-19 syndrome, many patients suffer from palpitations, effort-associated fatigue, and even sudden death. The mechanism of heart involvement in this syndrome is uncertain. The main purpose of the study was to identify possible cardiac involvement causes in patients with post-acute COVID-19 by using biomarkers such as NT-proBNP and nitric oxide (NO) and cardiac imaging modalities.Methods: In this cross-sectional study, a total of 105 participants were included according to the existence of symptoms, and 40 of these participants were asymptomatic patients. The ages of the participants ranged from 20 to 50 years. All patients were healthy before COVID-19. The symptoms were defined as palpitations and/or fatigue association with exercise in post-acute COVID-19 term. The comparison of the two groups was made by using biochemical parameters (NT-proBNP, Troponin I, NO) and imaging techniques (echocardiography, cardiovascular magnetic resonance (CMR) and cardiac positron emission tomography (PET)).Results: The symptomatic patients had higher NT-proBNP levels compared with asymptomatic patients (132.30± 35.15; 76.86± 16.79, respectively; p < 0.001). Interestingly, the symptomatic patients had lower NO levels than asymptomatic patients (9.20± 3.08; 16.15± 6.02, respectively; p < 0.001). Echocardiography and CMR were normal. However, we found regional increased 18F-FDG uptake on cardiac PET to be compatible with myocardial fatigue.Conclusion: We found elevated NT-proNBP levels, low serum NO levels, and increased 18F-FDG uptake on cardiac PET in post-acute COVID syndrome. Cardiac PET could replace or be added to CMR for detecting subtle subacute/chronic myocarditis. The follow-up of patients with post-acute COVID-19 could target the possibility of risk of heart failure.Keywords: post-acute COVID-19, cardiac involvement, laboratory tests, imaging

Amac: Yag doku dejenerasyonu degerlendirmenin siniflanmasi kardiyak tomografi (KT) kullanarak biyolojik karakteristiklerin ayirmak icin onemli bir biyoradyolojik gostergedir. Epikardiyal yag doku dejenerasyonu kalp hastaliklarina neden olmakla suclanmaktadir. Fakat yas ile epikardiyal yag doku dejenerasyonu arasinda iliski cok iyi bilinmemektedir. Bu calismada biz KT kullanarak epikardiyal yag doku radyodansitesi inceledik. Yontemler: 2018 Haziran ve Temmuz 2019 yillari arasinda 147 hastanin orta derece olasilik koroner arter hastaligi icin orta derece olasilik nedeniyle koroner arterleri KT ile degerlendirilmesi yapildic Bu restrospektif kohort calismadir. Uc epikardiyal bolge (sag atriyoventrikuler groove, posterior interventrikuler groove ve anterior epikardiyal) radyodansitesi ve bireysel subxiphoid yag radyodansitesi elde edildi. Grup karsilastirilmalari 10 yillik periyodlara gore yapildi (10 ile 80 yas arasi). Bulgular: Epikardiyal yag doku / subxiphoid yag radyodansitesi oranlari artan yas ile azalmaktadir. Ucuncu 10 yil sonrasi epikardiyal yag doku / subxiphoid yag radyodansitesi oranlari keskin bir sekilde azaldigini gozlemledik. Pearson correlation orani negative ve r=-0,11). Yirmi ve 30 yas arasi ile 30-40 yas arasi LCX bolgesi sirasiyla 1,71 (0,14) vs. 1,06 (0,40); P

Background This study aimed to determine cardiac findings in patients with mucopolysaccharidosis (MPS) and to assess the changes in these findings after enzyme replacement therapy (ERT). Methods A retrospective clinical cohort study was conducted on patients who were diagnosed with MPS between 1995 and 2018 in Hacettepe University, Division of Pediatric Metabolism. A total of 96 patients were diagnosed with MPS during the study period. Of these patients, 81 (84.3%) received ERT. Echocardiographic findings of the patients together with the 6-min walking test (6MWT) results before and after ERT were compared. Results Thirty-one participants (38.2%) were female, while 50 (61.8%) were male. The mean age of the participants was 11.97 ± 6.33 years (range: 1.8–30). Five patients (6.2%) had MPS type I, 14 (17.3%) had type II, 28 (34.6%) had type IVa, 33 (40.7%) had type VI and one (1.2%) had type VII. Before ERT, 69.4% of patients had mitral insufficiency (MI; mild: 40.5%, moderate: 16.5%, severe: 12.7%), 35.4% had aortic insufficiency (AI; mild: 22.8%, moderate: 12.7%) and 45.1% had tricuspid insufficiency (TI; mild: 39.2%, moderate: 2.5%). The median duration of the ERT was 3.5 years. The ERT significantly improved left ventricular hypertrophy (LVH), but all other study variables returned non-significant before and after treatment. ERT may improve LVH in MPS. Bearing in mind that MPS is a progressive disease, ERT seems to prevent significant deterioration of this ailment but is not able to reverse the already settled pathologies except for LVH. ERT is not able to reverse the damage, but provides stabilization; so it is best to initiate treatment before cardiac damage.

Disorders of intracellular trafficking are a group of inherited disorders, which often display multisystem phenotypes. Vacuolar protein sorting (VPS) subunit C, composed of VPS11, VPS18, VPS16 and VPS33A proteins, is involved in tethering of endosomes, lysosomes and autophagosomes. Our group and others have previously described patients with a specific homozygous missense VPS33A variant, exhibiting a storage disease phenotype resembling mucopolysaccharidosis (MPS), termed "MPS-plus syndrome". Here, we report two siblings from a consanguineous Turkish-Arabic family, who have overlapping features of MPS and intracellular trafficking disorders, including short stature, coarse facies, developmental delay, peripheral neuropathy, splenomegaly, spondylar dysplasia, congenital neutropenia, and high-normal glycosaminoglycan excretion. Whole exome sequencing and familial segregation analyses led to the homozygous NM_022575.3:c.540G > T; p.Trp180Cys variant in VPS16 in both siblings. Multiple bioinformatic methods supported the pathogenicity of this variant. Different monoallelic null VPS16 variants and a homozygous missense VPS16 variant had been previously associated with dystonia. A biallelic intronic, probably splice-altering variant in VPS16, causing an MPS-plus syndrome-like disease has been very recently reported in two individuals. The siblings presented herein display no dystonia, but have features of a multisystem storage disorder, representing a novel MPS-plus syndrome-like disease, associated for the first time with VPS16 missense variants.

Benzalkonium chloride (BAC) is a common ingredient of disinfectants used for industrial, medical, food safety and domestic applications. It is a common pollutant detected in surface and wastewaters to induce adverse effects on Human health as well as aquatic and terrestrial life forms. Since disinfectant use is essential in combatting against microorganisms, the best approach to reduce ecotoxicity level is to restrict BAC use. We report here that encapsulation of BAC in mesoporous silica nanoparticles can provide an efficient strategy for inhibition of microbial activity with lower than usual concentrations of disinfectants. As a proof-of-concept, Listeria monocytogenes was evaluated for minimum inhibitory concentration (MIC) of nanomaterial encapsulated BAC. Aptamer molecular gate structures provided a specific targeting of the disinfectant to Listeria cells, leading to high BAC concentrations around bacterial cells, but significantly reduced amounts in total. This strategy allowed to inhibition of BAC resistant Listeria strains with 8 times less the usual disinfectant dose. BAC encapsulated and aptamer functionalized silica nanoparticles (AptBACNP) effectively killed only target bacteria L. monocytogenes, but not the non-target cells, Staphylococcus aureus or Escherichia coli. AptBACNP was not cytotoxic to Human cells as determined by in vitro viability assays.

Araştırmada elit yüzme sporcularının egzersiz bağımlılığı düzeylerinin incelenmesi amaçlanmıştır. Araştırmaya lisansı olan sporcular katılmıştır. Araştırmanın çalışma grubu Türkiye Yüzme Federasyonu’nda aktif durumda olan 82 kadın, 55 erkek, toplamda 137 elit sporcudan oluşmaktadır. Araştırmada ‘’Kişisel Bilgi Formu’’ ve Demir, Hazar ve Cicioğlu (2018) tarafından geliştirilen ‘’Egzersiz Bağımlılığı Ölçeği’’ veri toplama aracı olarak kullanılmıştır. Araştırmada sporcuların yaşı ile bireysel-sosyal ihtiyaçların ertelenmesi ve çatışma alt boyutu arasında negatif yönde orta düzeyde anlamlı ilişki saptanmıştır. Araştırmaya katılan sporcuların yüzme stilleri ile egzersiz bağımlılığı düzeyleri arasındaki farklılık incelendiğinde sırt üstü yüzen katılımcıların serbest ve kurbağalama yüzen katılımcılara oranla egzersiz bağımlılığı puanlarının daha yüksek olduğu tespit edilmiştir. Cinsiyet, spor yaşı ve egzersiz yapma sıklığı ile egzersiz bağımlılığı alt boyutları arasında anlamlı bir farklılık görülmemiştir. Araştırmada elit yüzme sporcularının egzersiz bağımlılığı düzeylerinin bağımlı grupta yer aldığı sonucuna varılmıştır.

Introduction Glutaric aciduria type 1 (GA1) is a rare and inherited autosomal-recessive metabolic disorder that occurs in the deficiency of glutaryl-co-enzyme A dehydrogenase (GCDH) enzyme encoded by GCDH gene. In this study, we aim to retrospectively investigate the clinical, biochemical, and neuroradiological parameters and examine the spectrum of GCDH gene variants in Turkish patients with glutaric aciduria type 1. Methods This is a descriptive cross-sectional study. The study was conducted in fifty-three patients from 39 unrelated Turkish families who were diagnosed with GA1 based on their clinical presentation, neuroimaging, and biochemical measurements, at the department of pediatric metabolism of a university hospital between June 1998 and August 2019. Pathogenic variants screening of GCDH gene was performed by direct DNA sequence analysis in forty-six patients with GA1. Pathogenicity of the novel variants was predicted via computational programs. Results A total of 53 patients were diagnosed with GA1. Of those, 32 (60.3%) had encephalopathic crisis and 33 (62.3%) had macrocephaly. Twenty different pathogenic variants were detected, 7 of which are novel (p.Glu57Lys, p.Ser145Profs*79, p.Ser246Glyfs*96 p.Ala293Val, p.His348Gln, p.His417Tyr, p.Asp418Val). The p.Arg402Trp, p.Pro248Leu and p.Leu340Phe variants were the most common in Turkish patients, with a frequency of 21.2%, 18.2% and 12.1% respectively. Conclusion This study is the first comprehensive research from Turkey that provides information about disease-causing variants in the GCDH gene. The identification of common variants and hot spot regions of the GCDH gene is important for genetic counselling and the prenatal diagnosis of Turkish patients with GA1.

Aim: In this study, it was aimed to investigate that anxiety of Swimmers about contracting new type of Coronavirus (Covid19). Method: Swimmers in active state in Turkish Swimming Federation participated in this study. The participants of this research consist of 247 female and 203 male swimmers (450 in total) who are in active state in Turkish Swimming Federation. In this study, “Personal Info Questionare” and “Anxiety of atheletes for contracting new type of Coronavirus (Covid-19) scale” developed by Demir et al. (2020) were used as data collection tool. Results: Differences between sex and personal anxiety sub-dimension and general differences were determined. Differences between in personal anxiety and anxiety regarding socializing both in sub-scale and overall were determined. There is no difference reported according to factors such as financial status based on minimum wage, having a chronic disease, the best swimming style, making practice at home during pandemic. Conclusion: It was concluded that, swimmers have higher level of anxiety of contracting new type of Coronavirus (Covid-19) than the medium level in this study.

Annual Meeting on Experimental Biology WOS:000546107905442 [Özet Yok] Amer Assoc Anatomists, Amer Physiol Soc, Amer Soc Biochem & Mol Biol, Amer Soc Investigat Pathol, Amer Soc Nutr, Amer Soc Pharmacol & Expt Therapeut Gazi University Scientific Research Committee (Scientific Research Project) [01/2019-44] This study was conducted in the GUDAM Laboratory of Gazi University with the consent of Experimental Animals Ethics Committee of Gazi University with the code G. U. ET-19.024. The study was supported by Gazi University Scientific Research Committee (Scientific Research Project No. 01/2019-44).

Objective Depressed mechanical activity is a marked complication in diabetics. Hypoxia has properties for novel diagnostic and therapeutic strategies, while intermittent hypoxia (IH) provides early functional and histologic remodeling, including some cardio benefits in early hemodynamic alterations with histologic remodeling and delayed changes in peripheral vasoreactivity. Therefore, we aimed to examine whether IH application presents a cardioprotective effect, via stabilization of hypoxia-inducible factor (HIF) in streptozotocin (STZ)-induced diabetic rat heart. Methods Male 10-week-old Wistar rats were randomly assigned as control group (C), IH group, (STZ)-induced diabetic group (DM) and IH applied DM group (DM+IH). Diabetes duration was kept 6 weeks and IH groups were exposed to hypobaric hypoxia at about 70 kPa (including ~14% PO2; 6 h/day for 6-weeks). Results Depressed left ventricular developed pressure (LVDP) and prolonged contraction and relaxation of Langendorff-perfused hearts, as well as increased total oxidative status from streptozotocin (STZ)-induced diabetic rats were markedly prevented with IH application. IH application induced significant increase in protein expression levels of both HIF-1α and vascular endothelial growth factor (VEGF), in both control and diabetic rat hearts, whereas there were significant decreases in the protein levels of prolyl-4 hydroxylase domain enzymes, PHD2, and PHD3 in diabetic hearts. Furthermore, IH application induced marked increases in protein levels of matrix metalloproteinases, MMP-2 and MMP-9 and capillary density in left ventricle of diabetic rats. Conclusion Overall, we presented how IH application has a beneficial cardiovascular remodeling effect in left ventricular function of diabetic rats, at most, via affecting increased oxidative stress and HIF-VEGF related angiogenesis, providing information on hyperglycemia associated new targets and therapeutic strategies.

ELFN1, a transmembrane leucine rich repeat protein, is involved in signal transduction in both neural cells and ROD ON-bipolar synaptogenesis. We present three siblings with developmental and epileptic encephalopathy and co-morbidities due to ELFN1 gene mutation; this is the first report in literature defining the human phenotype of ELFN1 gene mutation. Clinical, electrophysiological, and radiological findings along with comprehensive genetic studies of the patients and their family members are presented. Developmental and epileptic encephalopathy, autistic features, pyramidal signs, joint laxity, and dysmorphic features are the characteristic findings of this new clinical entity, involving mainly nervous system and possibly connective tissue. Whole exome sequence analysis followed by Sanger sequencing in all family members revealed disease-causing 8 bp frameshift mutation depicted as NM_001128636.2: c.42_49delGGCCGCCA; p. (Ala15Profs*241) in ELFN1. The variant, located in the signal peptide domain in the ELFN1 gene, was found to be homozygous in three patients, and heterozygous in the parents and three healthy siblings. Segregation analysis in family members together with pathogenicity assessment tools strongly supported the damaging effect of the frameshift variant on the function of the ELFN1 protein. Mutations in ELFN1 gene may be considered in patients with neonatal and infantile-onset epileptic encephalopathy before the full clinical picture is apparent.

Background:Hepatic involvement is a common feature in childhood mitochondrial disorders. Deoxyguanosine kinase (DGUOK) deficiency is one of the mitochondrial DNA depletion syndromes associated with hepatocerebral syndrome. Hepatic disease and neurologic dysfunction occurs within weeks after birth. Low birth weight is one of the common features. This study aims to describe the clinical and laboratory features of four infants carrying four different pathogenic variants in theDGUOKgene.Case presentation:Common clinical findings were progressive cholestatic liver failure, hypoglycemia, hypotonia and rotatory nystagmus in our DGUOK deficiency patients. Lactic acidosis, elevated serum tyrosine and ferritin levels were the striking laboratory features. Cholestasis, iron deposits, microvesicular steatosis and fibrosis were the histopathological findings seen in liver biopsies of two patients. All patients died with multi-organ failure between the ages of 42 days and 6 months.Conclusions:While neurologic findings may occur later in the course of the disease, elevated serum tyrosine levels may alert the physicians to a DGUOK deficiency in a baby with hepatopathy in the presence of the mentioned signs. Early diagnosis is important not only for genetic counseling but also for a possible liver transplantation.

We present a novel multisystem disease in two siblings with clinical features resembling a lysosomal storage disease. These included coarse face, dysostosis multiplex, respiratory difficulty, proteinuria with glomerular foamy cells, neurological involvement with developmental delays, pyramidal signs, and severe chronic anemia. Detailed enzymatic analysis for lysosomal diseases and whole-exome sequencing studies excluded known lysosomal storage diseases in the proband. Subsequently, genome-wide genotyping and exome sequencing analysis of the family indicated two large homozygous regions on chromosomes 5 and 12, and strongly suggested that a homozygous p. R498W missense mutation in the VPS33A gene might be responsible for this novel disease. Segregation analysis in family members and mutation prediction tools' results also supported the damaging effect of the missense mutation on the function of the Vps33a protein, which plays a role in the vesicular transport system. Electron microscopic studies of the cornea of the proband showed findings supportive of dysfunction in vesicular transport. The clinical phenotype and genetic studies support the suggestion that the siblings most probably have a novel disease very likely caused by a VPS33A gene defect.

11β-Hydroxylase deficiency is the second most frequent type of congenital adrenal hyperplasia and is more common in those of Turkish descent than in other populations. The purpose of this study is to examine the spectrum of CYP11B1 gene mutations in Turkish patients with 11β-hydroxylase deficiency. Twenty-eight patients from 24 families, ages ranging from 0.1 to 7 years, were included in the study. Clinical diagnosis was based on virilization and high levels of 11-deoxycortisol. Twenty-six cases exhibited the classical and 2 cases the non-classical form. Mutation screening of 9 CYP11B1 exons was performed by direct DNA sequence analysis, specifically amplifying CYP11B1 gene fragments while avoiding simultaneous amplification of homologous CYP11B2 gene sequences. Seventeen different mutations were detected, 6 of which are novel (p.Gln189Hisfs*70, p.Glu198Gly, p.Thr318Lys, p.Gly446Ser, IVS8+5G>C and exon 3-5 del). All of the identified mutations resulted in the classical form with severe virilization, except for the p.Gly446Ser mutation, which caused a late-onset type of 11β-hydroxylase deficiency. The c.954G>A;p.Thr318Thr mutation was the most common in our cohort, with an allele frequency of 14.6%.Of the CYP11B1 gene mutations detected, 75% were found in exons 3, 5 and 7 and the half of the mutations were nonsense, splice site, deletion or insertion mutations, causing severe virilization in female patients. The findings are important for genetic counseling and the prenatal diagnosis of Turkish patients with 11β-hydroxylase deficiency.