Ege University Institutional Repository
Not a member yet
116239 research outputs found
Sort by
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
No full textBackground: The reasons why some individuals have severe neuropathy following an infection are not known. Through the agnostic screening of children with acute axonal neuropathy after an infection, we identified several families with biallelic variants in RCC1. We aimed to describe the clinical phenotype of these patients, and the molecular and cellular pathology associated with the genetic variants identified in these families. Methods: For this case series, we identified children affected by a severe, acute-onset axonal neuropathy following infection through an international research consortium of paediatric neurologists and clinical geneticists from nine countries (Canada, Cyprus, Czechia, Germany, Iran, Saudi Arabia, Slovakia, Türkiye, and the UK). Clinical assessments included nerve conduction studies and neuroimaging. We did exome or genome sequencing in DNA samples from all patients. We characterised the proteins encoded by the genetic variants by use of thermal stability and enzymatic assays, using recombinantly expressed proteins. We assessed cellular protein transport under heat or oxidative stress by use of immunofluorescence in primary fibroblasts, obtained from patients. We generated a humanised Drosophila knock-in model to assess the effects of stress on the in vivo function of RCC1. Findings: Between Nov 2, 2011, and July 10, 2024, we identified 24 individuals from 12 families who had severe, acute-onset axonal neuropathy following infection (13 female and 11 male patients, with a mean age at diagnosis of 1 year 10 months [SD 2·27]). Eight biallelic missense variants in RCC1 were identified in affected individuals with autosomal recessive inheritance. Patients had variable phenotypes, ranging from rapidly progressive fatal axonal neuropathy to mild motor neuropathy with impaired walking. Neurological presentation was often secondary to an infection, resulting in initial misdiagnoses of Guillain-Barré syndrome in several patients. 15 children had disease recurrence. The disease was fatal in 15 patients. The RCC1 variants in these patients code for proteins that alter GDP-to-GTP exchange activity and have reduced thermal stability in vitro. In primary fibroblasts, heat shock or oxidative stress revealed defects in Ran nuclear localisation and impaired nucleocytoplasmic transport. A Drosophila model of the disease revealed a fatal intolerance to oxidative stress. Interpretation: We describe an autosomal recessive, acute-onset paediatric axonal neuropathy, seemingly triggered by infection, that affects individuals with biallelic RCC1 variants. In these children, the disease can mimic Guillain-Barré syndrome. The pathological mechanisms underlying this novel axonal neuropathy might overlap with those of amyotrophic lateral sclerosis. Cellular studies indicate that RCC1 variants affect nucleocytoplasmic transport, which is crucial for healthy axonal function. Future studies should be directed at pre-symptomatic treatment by exploring ways to maintain nucleocytoplasmic transport. Funding: National Institute for Health and Care Research, LifeArc, and Wellcome Trust. © 2025 Elsevier B.V., All rights reserved
Armenian Destruction of Azerbaijan's Cultural Heritage and Debates on Restoration Efforts in the Liberated Territories
No full textJust as the end of the Karabakh War II in 2020, the Armenian invasion of Karabakh expired. Following the end of the invasion, lasting for around 30 years, the Azerbaijan Government launched a comprehensive restoration movement for legacies that remain Caucasian Albans and Turkic Islamic communities. Although Armenia refers to the mentioned restoration movement as a trace erasing policy. The argument that the cultural legacy in the region, which they claim belongs to Armenians, was deliberately demolished was embraced by the Western World; Azerbaijanis' historical existence in their motherland is quoted via Armenians' unfounded and contradictory historical narratives, and Azerbaijan's international reputation is discredited. Alongside cultural heritage genocide, made by Armenians, doesn't carry on the agenda enough. Advocating efforts against unfair accusations, subjected to Azerbaijan, are limited by Azerbaijan's national efforts and Turkey. The principal objective of this study is to examine the unjust accusations directed at the Azerbaijani people concerning their ancestral homeland and to shed light on the Armenian policy of trace-erasing
Superderivations taking nilpotent values on homogeneous elements in semiprime superalgebras
No full textLet A = A0 ? A1 be a semiprime associative superalgebra over a commutative unital ring ? with 1/2 ? ? and di: A ? A be a homogeneous superderivation of degree i ? ? 2. If di takes nilpotent values of fixed indices on homogeneous elements in a two-sided graded ideal I of A (the indices depending on the parity of the elements), then we prove that d0(I) = (0) in case i = 0 and, under a torsionfreeness assumption, d1(I) = (0) in case i = 1. © 2025 Elsevier B.V., All rights reserved
Investigation of the relationship between apelin hormone response and some physiological parameters in enzootic bovine leukosis virus infected cattle
No full textApelin is a hormone with lymphangiogenesis potential, associated with tumor growth and lymph node metastasis, and is reported to stimulate tumor vascularization. This study aimed to investigate the response of the apelin hormone in cattle with and without Enzootic Bovine Leukosis (EBL) infection, based on physiological parameters such as breed, age, and body condition score (BCS). A total of 120 Simmental and Montafon cattle of varying ages (8) and BCS categories (= 4) were included in the study. Serum apelin hormone levels were measured using the ELISA technique in blood samples collected from the neck vein ( Vena jugularis) of the animals. The analysis of mean serum apelin (ng/mL) values revealed that, among EBL-positive cattle, the highest value was 2.77 ng/mL in Simmental cattle aged 2-8 years with a BCS of 3-3.5, while a value of 2.69 ng/mL was observed in Montafon cattle aged >8 years with a BCS of 3-3.5. For EBL-negative cattle, the highest mean serum apelin value was 2.24 ng/mL, recorded in Simmental cattle aged 2-8 years with a BCS of 3-3.5, whereas it was 1.45 ng/mL in Montafon cattle aged >8 years with the same BCS. In conclusion, this study demonstrated for the first time the effect of apelin hormone levels in cattle with or without EBL, depending on physiological parameters such as age, breed, and BCS. It is suggested that the apelin hormone, which is involved in neoplastic lymphocyte cell infiltration in the lymphoreticular tissues of cattle, and plays a role in regulating tumor growth in EBL, a malignant tumor disease, may contribute to eradication programs. Moreover, the evaluated parameters may prove valuable for disease prevention and control strategies
Clinical and molecular findings in actin-related inborn errors of immunity: the middle East and North Africa registry
No full textBackground The majority of monogenic inborn errors of immunity presenting as actinopathies were reported originally from the Middle East and North Africa (MENA) countries indicating a high prevalence of these entities in the region. However, their prognosis is unclear due to rarity and lack of comprehensive treatment outcomes.Methods We evaluated clinical, immunological, and genetic abnormalities associated with 15 genetic entities of actinopathies. Based on the function of mutant genes in actin-regulatory pathways, patients were classified into CDC42- and RAC2-related subcategories.Results A total of 503 individuals (29.5% females) from 17 countries were considered with a median age of 120 months. Although most patients presented initially with allergic phenotypes (37.7%), the most prevalent manifestations throughout the lifespan were infection in respiratory tracts (72.2%). Primary clinical diagnosis was mainly combined immunodeficiencies (48.3%) and the majority of cases were molecularly assigned to the CDC42 pathway (64.8%). The most common genetic defects were reported within the DOCK8 (n = 209) followed by the WAS (n = 94) and the CARMIL2 (n = 15) genes. Hematopoietic stem cell transplantation (HSCT) was conducted on 24.0% of patients, which significantly improved survival in patients with defects in WAS, DOCK8 and DOCK2. Overall mortality was 23.0%, mainly due to sepsis and malignancy.Conclusion Patients with defects in RAC2-associated regulators of actin usually present with late-onset symptoms due to normal immune profiles, but a higher rate of EBV and HPV infections, autoimmune cytopenia, asthma, and lymphoproliferation compared to defects in the CDC42 pathway. The severity of mutations in patients of the CDC42 group helps to estimate the prognosis of the disease and prioritization of HSCT.Crafoord foundation; Karolinska Institute (Special Initiative for Young Researchers)The author(s) declare that financial support was received for the research and/or publication of this article. This project received funding from the Crafoord foundation and Karolinska Institute (Special Initiative for Young Researchers) to HA
Probenecid protects against contrast-induced nephropathy through modulation of small Rho GTPases and Pannexin1 channels in Wistar rats
No full textBackgroundContrast agents are known to increase the risk of radiocontrast-induced nephropathy (CIN), particularly in elderly, diabetic, or dehydrated patients. However, the exact molecular mechanisms leading to renal injury in CIN remain unclear. Probenecid (PBN), an organic anion transport inhibitor that also inhibits Pannexin1 channels, has been suggested as a potential therapeutic agent in certain nephropathy models. This study aimed to examine the protective effects of PBN in CIN. Additionaly, considering the roles of small RhoGTPases and Pannexin1 in nephropathy and their interactions, we investigated the relationship between these molecules in the same CIN rat model.MethodsCIN was induced in male Wistar rats by a single intraperitoneal (ip.) injection of iohexol. The animals were treated with either saline (i.p) or PBN (150 mg/kg or 300 mg/kg, i.p) twice daily for 5 days following iohexol (3 g iodine/kg) administration. Kidney tissue samples were stained with hematoxylin and eosin to assess tubular injury. Immunohistochemical analysis was also performed to evaluate the expression of RhoA, Rac1, Pannexin1, and active Caspase-3.ResultsIohexol caused tubular necrosis, dilatation, vacuolization and brush border loss, while high-dose PBN significantly reduced these changes. Rac1, Pannexin1 and active-Caspase 3 expressions were increased in CIN, while RhoA expression was decreased compared to control. High-dose PBN ameliorated these changes, but significant improvement was observed in RhoA expression.ConclusionsThese results indicate that PBN may protect against CIN through modulation of small Rho GTPases (increasing RhoA expressions or altered balance between RhoA and Rac1) and Pannexin1 channels in Wistar rats.Dokuz Eyll niversitesi [KB.SAG.034]; Dokuz Eylul University Research FoundationThis work was supported by Dokuz Eylul University Research Foundation (2016.KB.SAG.034)
İntraoral lipom: 2 olgu sunumu
No full textLipomas are a common type of soft tissue tumour, occurring with greater frequency in other locations than in the oral region. They are non-functioning benign tumours formed from mature adipose tissue. The clinical course may manifest as a painless mass that gradually enlarges over years. There are reports of giant lipomas extending to the sublingual, submandibular and parapharyngeal regions. Surgical excision and post-operative follow-up are of critical importance in cases with a preliminary diagnosis of lipoma. In this study, we present two rare cases of lipomas in the lower lip region which enlarge over time and cause loss of function.Lipomlar yaygın yumuşak doku tümörleridir, ancak oral bölgede nadir görülürler. Matür yağ dokusundan oluşmuş, non-fonksiyone, selim tümörlerdir. Klinik seyir, yıllar içinde kademeli olarak genişleyen ve ağrısız bir kitle şeklinde gelişebilir. Dil altı, submandibular ve parafarengeal bölgelere uzanan dev lipom raporları bulunmaktadır. Lipom ön tanısı bulunan olguların cerrahi olarak eksizyonu ve post-operatif takibi kritik öneme sahiptir. Bu çalışmada, alt dudak bölgesinde zamanla büyümüş ve fonksiyon kaybına neden olan nadir görülen iki lipom vakası sunuyoruz
Epifaunal Assemblages of the Fan Mussel Atrina fragilis (Mollusca: Bivalvia) in the Sea of Marmara
No full textDense aggregations of species in the family Pinnidae give soft substrata a specific characterization. They may influence the biological and physical properties of the surrounding sediments. Bottom-trawl samplings performed in the Sea of Marmara revealed populations of a large pinnid species, particularly at depths of 40-45 m in soft substrata. Both morphological and DNA analyses confirmed the species' taxonomic identity as Atrina fragilis. This species had a population density ranging from 31 to 469 ind.km-2, and the shell lengths ranged from 21.3 to 31 cm. A total of 47 macrozoobenthic species belonging to eight taxonomic groups were found on the shells of ten live and nine dead A. fragilis individuals. Polychaeta accounted for 53% of the total number of species and 75% of the total number of individuals. Among these species, Protula tubularia and Serpula concharum comprised almost 30% of all epifaunal populations. Community parameters changed according to the shell length and width. Different faunal assemblages were encountered on the shells. Given the ecological significance of A. fragilis as both a habitat-forming and sensitive benthic species, conservation measures should prioritize the protection of known habitats and the regulation of activities that lead to seabed disturbance.Global Environment Facility (GEF)Funded by the MarIAS project Addressing Invasive Alien Species Threats at Key Marine Biodiversity Areas GEF VI Project implemented by the Republic of Tuerkiye, Ministry of Agriculture and Forestry, the General Directorate of Nature Conservation and National Parks in cooperation with the United Nations Development Program (UNDP) funded by the Global Environment Facility (GEF)
Polihidroksibütirat biyopolimerin pulpa kuafaj materyali olarak biyolojik ve mekanik özelliklerinin incelenmesi
No full textBu çalışmanın amacı; polihidroksibütirat (PHB) biyopolimerinin temel mekanik özelliklerinin incelenmesi, karakterizasyonunun yapılması, yüzey özellikleri ve biyolojik etkilerinin iki farklı pulpa kuafaj materyaliyle karşılaştırmalı olarak incelenmesidir. Çalışmada, elektroeğirme yöntemiyle deneysel olarak üretilen PHB (Innovaplast) ile güncel olarak klinik kullanımda olan Biodentine (Septodont) ve TheraCal LC (Bisco) materyalleri değerlendirilmiştir. PHB’nin temel özellikleri ve yapısal karakterizasyon kapsamında; PHB ham maddesinin diferansiyel taramalı kalorimetre (DSC), termogravimetrik analiz (TGA) ve nükleer manyetik rezonans (1H-NMR) spektroskopisi gerçekleştirilmiştir. PHB’nin cam geçiş sıcaklığı (Tg) 43.3°C, kristalleşme sıcaklığı (Tc) 63.1°C ve erime sıcaklığı 171.6°C olarak belirlenmiştir. TGA verilerine göre, PHB'nin % 50’sinden fazlası 247°C’de ayrışmıştır. Mark-Houwink bağıntısı kullanılarak viskozite-ortalama moleküler ağırlığı yaklaşık 393.000 g/mol olarak hesaplanmıştır. Çalışma tasarımına özgün olarak elektroeğirme yöntemiyle üretilen PHB membranın, mikro bilgisayarlı tomogrofi (Mikro-BT) görüntülemesi yapılmıştır. PHB membranının homojen, kompakt ve fibriler bir yapı gösterdiği saptanmıştır. Materyallerin yüzey özellikleri ve topografisi taramalı elektron mikroskop (SEM) görüntüleme ile analiz edilmiştir. Tüm örnekler altın/paladyum yüzey kaplama işlemine tabi tutulmuş (Quorum SC7620, İngiltere) ve farklı büyütmelerde SEM görüntüleri alınmıştır (Thermoscientific Phenom XL, Hollanda). Örnekler termosiklus ile (Thermocycler SD Mechatronik 1100-1200, Almanya 5°C–55°C, 1000 döngü) yaşlandırmaya tabi tutulmuş ve ardından SEM analizleri tekrarlanmıştır. Termal yaşlandırma amacıyla uygulanan termalsiklus sonrası, Biodentine ve TheraCal LC gruplarında yüzey bütünlüğünde bozulmalar gözlenirken, PHB örnekleri stabilitesini ve özgün fibriller morfolojisini korumuştur. Biyouyumluluk değerlendirmesi, L-929 fare fibroblast hücre hattında MTS testi ile gerçekleştirilmiştir. Enflamatuar yanıt için; monosit kemoatraktan protein 1 (MCP- 1/CCL2) ve makrofaj enflamatuar protein-1α (MIP-1α/CCL3) kemokin düzeylerindeki değişimler ELISA yöntemiyle belirlenmiştir. Ayrıca, MC3T3-E1 osteoblast hücre hattı kullanılarak materyallerin alkalen fosfataz (ALP) düzeyi üzerindeki etkileri analiz edilmiştir. Herhangi bir materyale maruz bırakılmayan hücreler kontrol grubu olarak belirlenmiştir. Veriler, GraphPad Prism (La Jolla, ABD) programı ile istatistiksel olarak değerlendirilmiştir. 24 ve 72 saatlik kültürler sonucunda TheraCal LC ve Biodentine gruplarında hücre canlılığı kontrol grubuna kıyasla anlamlı şekilde azalmış ve % 70’in altında saptanmıştır (p<0.05). PHB grubunda ise hücre canlılığı kontrol grubuyla benzer düzeyde olup, anlamlı fark göstermemiştir. Enflamatuar yanıt açısından, PHB uygulaması MCP-1 ve MIP-1α düzeylerinde anlamlı değişiklik oluşturmazken; TheraCal LC ve Biodentine gruplarında bu kemokinlerde anlamlı katlı artış saptanmıştır (p<0.05). ALP düzeyleri açısından gruplar arasında anlamlı fark bulunmamakla birlikte, PHB ve Biodentine materyallerinin osteoblastik aktiviteyi artırma eğiliminde olduğu izlenmiştir. Sonuç olarak, PHB’nin yüksek termal ve mekanik stabilitesi, temel yüzey özelliği, iyi biyouyumluluğu ve düşük enflamatuar yanıtı ile mevcut pulpa kuafaj materyallerine kıyasla avantaj sağlayabileceği ve pulpa kuafaj ve kök tamir materyali olarak umut vadeden bir alternatif olabileceği düşünülmektedir. Deneysel prototipin tamamlanması ve klinik kullanıma sunulabilmesi için ileri araştırmalar gereklidir.The aim of this study is to investigate the fundamental mechanical properties, perform the characterization, and evaluate the surface features and biological effects of the polyhydroxybutyrate (PHB) biopolymer in comparison with two different pulp capping materials. In this study, PHB (Innovaplast) produced experimentally via electrospinning method was evaluated alongside Biodentine (Septodont) and TheraCal LC (Bisco), which are commercially available materials. The basic properties and structural characterisation of PHB were investigated using differential scanning calorimetry (DSC), thermogravimetric analysis (TGA), and nuclear magnetic resonance (1H-NMR) spectroscopy. The glass transition temperature (Tg) of PHB was determined as 43.3°C, the crystallisation temperature (Tc) was 63.1°C, and the melting temperature was 171.6°C. According to TGA data, more than 50% of PHB degraded at 247°C. The viscosity-average molecular weight was calculated to be approximately 393.000 g/mol using the Mark-Houwink equation. A micro-computed tomography (Micro-CT) scan was performed on the PHB membrane produced via electrospinning method, which was unique to the study design. The PHB membrane revealed a homogeneous, compact, and fibrillar structure. The surface properties and topography of the materials were analysed using scanning electron microscopy (SEM). All samples were subjected to gold/palladium surface coating (Quorum SC7620, United Kingdom) and SEM images were obtained at different magnifications (Thermoscientific Phenom XL, Netherlands). The samples were subjected to thermal cycling (Thermocycler SD Mechatronik 1100-1200, Germany, 5°C–55°C, 1000 cycles) and SEM analyses were repeated thereafter. Following thermal ageing, significant degradation of surface integrity was observed in the Biodentine and TheraCal LC groups, while PHB samples maintained their stability and retained their unique fibrillar morphology. Biocompatibility assessment was performed using the MTS test on L-929 mouse fibroblast cell line. For inflammatory response, changes in monocyte chemotactic protein 1 (MCP-1/CCL2) and macrophage inflammatory protein-1α (MIP-1α/CCL3) levels were determined using the ELISA method. Additionally, the effects of the materials on alkaline phosphatase (ALP) levels were analysed using the MC3T3-E1 osteoblast cell line. Cells not exposed to any material were designated as the control group. Data were statistically analysed using the GraphPad Prism (La Jolla, USA) software. As a result of 24 and 72 hour cultures, cell viability in the TheraCal LC and Biodentine groups decreased significantly compared to the control group and was found to be below % 70 (p<0.05). In the PHB group, cell viability did not show a significant difference. Regarding inflammatory response, PHB did not cause significant changes in MCP-1 and MIP-1α levels; however, significant fold increases in these chemokines were detected in the TheraCal LC and Biodentine groups (p<0.05). Although no significant differences were obtained between groups in terms of ALP levels, PHB and Biodentine materials showed a tendency to enhance osteoblastic activity. In conclusion, PHB, demonstrates high thermal and mechanical stability, fundamental surface properties, good biocompatibility, and low inflammatory response. These properties may offer advantages over existing pulp capping materials and could be a promising alternative as a pulp capping and root repair material. Further researches are required to complete the experimental prototype and make its translation into clinical usage
Görme engelli genç kadınlarda menstrüasyona yönelik sosyal öğrenme temelli planlı eğitimin etkinliği: Randomize kontrollü çalışma
No full textAmaç: Görme engelli genç kadınlarda Sosyal Öğrenme Kuramına dayalı verilen yüz yüze uygulamalı eğitimin menstrüal semptomlara, genital hijyen davranışlarına ve menstrüal öz bakım becerilerine etkisini değerlendirmektir. Yöntem: Araştırma, tek kör, randomize kontrol gruplu, longitudinal, eğitim müdahaleli deneysel bir çalışmadır. Nisan 2023 – Ağustos 2025 tarihleri arasında, İzmir il merkezinde, Atatürk İl Halk Kütüphanesi Görme Engelliler Bölümü'ne üye 15–30 yaş aralığındaki 32 görme engelli kadın ile (16 girişim, 16 kontrol) yürütülmüştür. Veri toplamada; Tanıtıcı Özellikler Formu, Isınma Soruları, Menstrüasyon Semptom Ölçeği, Genital Hijyen Davranışları Ölçeği ve Menstrüal Öz Bakım Beceri Listesi kullanılmıştır. Sosyal Öğrenme Kuramına dayalı olarak yapılandırılan eğitim için eğitim slaytı hazırlanmış, sesli videolar betimlenerek kaydedilmiş ve çeşitli materyaller ile maketler temin edilmiştir. Eğitim içerikleri ve formlar için uzman görüşü alınmış, ardından yüz yüze eğitim ve veri toplama süreci gerçekleştirilmiştir. Veri analizi IBM SPSS 27 programı ile yapılmıştır. Tanımlayıcı istatistikler, normallik ve varyans homojenliği testleri sonrası uygun parametrik ya da non-parametrik testler uygulanmıştır. Grup karşılaştırmalarında Bağımsız/Bağımlı Örneklem T testi, Mann Whitney U ve Wilcoxon testleri; kategorik değişkenler için Ki-kare, Fisher's Exact ve Çoklu Ki-kare testleri; sürekli değişkenler için doğrusal regresyon analizi kullanılmıştır. Bulgular: Kadınların menarş yaşı ortalaması kontrol grubunda 12,69±1,54, girişim grubunda ise 11,75±1,29'dur. Menstrüasyonla ilgili önceden bilgi alma oranı kontrol grubunda %50 iken, girişim grubunda %25'tir. Girişim grubunda, eğitimden 9 ay sonraki Menstrüasyon Semptom Ölçeği toplam ve ağrı belirtileri alt boyutu puan ortalamaları eğitim öncesine göre anlamlı derecede daha düşük olup semptom şiddeti azalmıştır (p0,05). Girişim grubunda eğitim öncesi ve eğitimden 9 ay sonra Genital Hijyen Davranışları Ölçeği toplam ve alt boyut puan ortalamaları arasında istatistiksel olarak anlamlı fark saptanmış, eğitim sonrası puanların eğitim öncesine göre yüksek olduğu belirlenmiştir (p0.05). In the intervention group, a statistically significant difference was found between the total and sub-dimension score averages of the Genital Hygiene Behaviors Scale before the training and 9 months after the training, and it was determined that the post-training scores were higher than before the training (p<0.05). A significant difference was found between the total and sub-dimension mean scores of the Genital Hygiene Behaviors Scale of the women in the intervention and control groups 9 months after the training, and the mean scores of the intervention group were found to be higher than those of the control group (p<0.05). As a result of the regression analysis, it was determined that the mean scores of the Genital Hygiene Behaviors Scale of the intervention group were significantly higher than the control group and that education had a strong effect on behavioral change (Adjusted R²=0.608, p<0.001). It was observed that there was a statistically significant difference between the Menstrual Self-Care Skills List mean scores of the intervention group women before and after the training, and the scores were higher than before the training (p<0.05). In the intervention group, a moderately positive and significant correlation was found between the mean scores of the Genital Hygiene Behaviors Scale and the negative effects/somatic complaints subscale of the Menstrual Symptom Quastionnaire (r=0.574; p<0.05). Conclusion: It was observed that the planned training based on social learning theory for visually impaired women provided positive effects in the development of menstrual hygiene and symptom management and genital hygiene behaviors. The results obtained reveal that basing health education for individuals with disabilities on a theoretical foundation and supporting it with accessible and practical methods has a positive effect on developing or changing skills and behaviors