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Publication Metadata only A case of left testicular artery with high origin passing through a left renal vein fenestration(Via Medica Medical Publishers, 2024) Yılmaz, Ebru; Tatar, Cem; Keskin, Aleyna; Yalçın, Büşra; Gürses, İlke Ali; Graduate School of Health Sciences; School of MedicineBackground: Fenestrations of are extremely rare in the venous system, especially renal veins. This paper aims to present a case of left renal vein fenestration where a high origin testicular artery passes through it. Materials and Methods The variation was observed incidentally in a 74-year-old Caucasian male cadaver during routine retroperitoneal dissections for second year medical students. Results: A fenestration in the mid portion of the left renal vein was observed. The length and height of the fenestration was 23 and 3.6 millimeters, respectively. The left testicular artery passed through the fenestration and followed a normal course distal to the fenestration. Posterior to the left renal vein, the testicular artery originated from the lateral aspect of abdominal aorta, just caudal to the left renal artery. On the right side, the testicular artery had a similar high origin, and two renal arteries were present. No venous variations were observed on the right side. Conclusions: The long course of the left renal vein is a factor of preference for donor kidney selection. Uncommon variations of the left renal veins, such as fenestrations, might result in a change in surgical technique and would put the left donor kidney at risk of prolonged anastomosis time and lower survival rates.Publication Open Access A case of radiologically isolated syndrome developing Balo's concentric sclerosis lesions on long-term follow-up(Elsevier, 2022) Danyeli, Ayça Ersen; Altıntaş, Ayşe; Çalışkan, İlay; Peker, Selçuk; Faculty Member; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Graduate School of Health Sciences; Koç University Hospital; 11611; N/A; N/A; 11480Background; Radiologically Isolated Syndrome (RIS) depicts a clinical scenario with multiple sclerosis (MS)-like magnetic resonance imaging (MRI) findings in individuals without clinical features of a demyelinating bout. Balo’s concentric sclerosis (BCS) on the other hand, is a variant of MS characterized by concentrically layered white mater demyelinating lesions. Case presentation: a 49-year-old male with an incidental brain lesion on MRI underwent a stereotactic biopsy and diagnosed as a demyelinating process. He remained asymptomatic throughout the long term clinical and radiological follow-up. However, the patient developed new demyelinating lesions with some showing concentric layers of BCS. Conclusion:this is the first reported case; to our knowledge, whereby a pathologically verified RIS patient developed characteristic BCS lesions. Our case highlights the heterogeneity of RIS as a clinico-radiological entity, requiring further sub-classification of the spectrum for improved managementPublication Open Access A community-based approach to prevention of pressure injuries: a study of the European Wound Management Association Research Grant(European Wound Management Association (EWMA), 2021) Karadağ, Ayişe; Çakar, Vildan; Faculty Member; School of Medicine; Graduate School of Health Sciences; 3549; N/APressure injuries (PIs) are important health problems all over the world because of their serious effects. Awareness of PIs and their effects has increased in recent years. Since patients’ relatives are part of the care team, they have an important role to play in the prevention of PIs. The most crucial aspect of the prevention of PIs is the education of healthcare professionals, patients and patients’ relatives and caregivers. This study aimed to educate caregivers on the prevention of PIs through the development of a digital game. With this purpose, we developed and used a technological education approach —a digital game— that employs gamification methodsPublication Open Access A missed Behçet’s case presenting with spontaneous epidural hematoma(Aves, 2015) Karataş, Levent; Mengi, Gönen; N/A; Taşkıran, Özden Özyemişçi; Faculty Member; School of Medicine; 133091Spinal vascular events related to Behçet's disease are relatively uncommon. Deep vein thrombosis is the most frequent vascular involvement. Anticoagulant therapy is a debated issue in Behçet's disease. In this case report, we present a patient with a delayed diagnosis of Behçet's disease after development of cervical epidural hematoma following anticoagulant therapy due to deep venous thrombosis. Anticoagulant therapy without immunosuppressive therapy leading to uncontrolled systemic inflammation may be the cause of spinal epidural hematoma. On the other hand, epidural vascular involvement as a vasculitic manifestation of Behçet's disease in conjunction with anticoagulant therapy may have predisposed to spontaneous bleeding via increased fragility or microaneurysms in epidural arteries. In this case report, the importance of a multidisciplinary approach to Behçet's disease is emphasized.Publication Open Access A novel coenzyme-Q approach for the prevention of postsurgical adhesion(Bilimsel Tıp Yayınevi, 2020) Kuşaslan, Ramazan; Ercan, Gülçin; Altınay, Serdar; Binboğa, Sinan; Altınel, Yüksel; Ağcaoğlu, Orhan; Faculty Member; School of Medicine; 175476Objective: Postoperative intraperitoneal adhesions are an unsolved and important problem in abdominal surgery. In the present study, the probable preventive role of coenzyme-Q in the development of peritoneal adhesions was investigated. Material and Methods: Sixteen Wistar Hannover male rats weighing 300-350 g were randomly separated into two groups of 8 rats each. The cecum was abraded with a sterile gauze until sub-serosal hemorrhage developed. A patch of peritoneum located opposite to the cecal abrasion was completely dissected. No treatment was given to Group 1. Group 2 received 30 mg/kg coenzyme-Q, which was injected 2 mL intraperitoneally. All the rats were sacrificed on the postoperative 21st day, and after adhesions were scored macroscopically, tissue specimens of the peritoneum and bowel were subjected to histopathological investigation. Tissue and blood specimens were also taken for biochemical analysis to investigate antioxidant efficiency. Results: Adhesion scores were significantly different between the control group and the coenzyme-Q group (p= 0.001). According to the tissue levels of GSH-Px, MDA, and SOD levels, there was no significant difference between the study groups (p= 0.074, p= 0.208, p= 0.526). According to the plasma GSH-Px and SOD levels, there was significant difference between the groups (p= 0.002, p= 0.001), but the difference was not significant at MDA levels (p= 0.793). The differences between the pathological scores of the control and coenzyme-Q (p= 0.028 for fibrosis; p= 0.025 for inflammation) groups were statistically significant. Conclusion: This study confirms that coenzyme-Q is the potential application in the prevention of early postoperative adhesions. / Giriş ve Amaç: postoperatif intraperitoneal adezyonlar abdominal cerrahide çözülmemiş önemli bir problemdir. Bu çalışmada, koenzim-Q’nun peritoneal yapışıklık gelişimi üzerindeki muhtemel önleyici etkileri araştırılmıştır. Gereç ve yöntem: 300-350 g ağırlığında 16 Wistar Hannover erkek sıçan rastgele olarak her biri sekiz sıçandan oluşan iki gruba ayrıldı. Çekum, subserosal kanama gelişene kadar steril bir gazlı bezle aşındırıldı. Çekal aşınmanın karşısındaki bir periton tabakası tamamen disseke edildi. Grup 1 tedavi almadı. Grup 2 30 mg/kg koenzim-Q, 2 mL intraperitoneal olarak enjekte edildi. Tüm sıçanlar postoperatif 21. günde ötenazi edilerek adezyonlar makroskobik olarak skorlandıktan sonra, periton ve bağırsak doku örnekleri histopatolojik incelemeye tabi tutuldu. Antioksidan etkinliği araştırmak için doku ve kan örnekleri biyokimyasal analiz için alındı. Bulgular: Adezyon skorları kontrol grubu ile koenzim-Q grubu arasında anlamlı farklılık gösterdi (p= 0,001). GSH-Px, MDA ve SOD düzeylerinin doku düzeylerine göre, çalışma grupları arasında anlamlı fark yoktu (p= 0,074, p= 0,208, p= 0,526). Plazma GSH-Px ve SOD düzeylerine göre gruplar arasında anlamlı farklılıklar gözlendi (p= 0,002, p= 0,001), fakat MDA düzeylerinde fark anlamlı düzeyde saptanmadı (p= 0,793). Kontrol ve koenzim-Q patolojik skorları arasındaki fark (fibrozis için p= 0,028; inflamasyon için p= 0,025) istatistiksel olarak anlamlıydı. Sonuç: bu çalışma koenzim-Q’nun erken postoperatif adezyonların önlenmesinde potansiyel uygulama olduğunu doğrulamaktadır.Publication Open Access A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome(BioMed Central, 2016) Oud, M.M.; Bonnard, C.; Mans, D.A.; Altunoğlu, U.; Tohari, S.; Ng, A.Y.J.; Eskin, A.; Lee, H.; Rupar, C.A.; Wagenaar, N.P.; Wu, K.M.; Lahiry, P.; Pazour, G.J.; Nelson, S.F.; Hegele, R.A.; Roepman, R; Venkatesh, B.; Siu, V.M.; Reversade, B.; Arts, H.H.; N/A; Kayserili, Hülya; Faculty Member; School of Medicine; 7945Background: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with polydactyly syndromes, and hydrolethalus syndrome. In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology. Results: Through homozygosity mapping and whole-exome sequencing, we identified a second variant (c.358G > T; p.G120C) in ICK in a Turkish fetus presenting with ECO syndrome. In vitro studies of wild-type and mutant mRFP-ICK (p.G120C and p.R272Q) revealed that, in contrast to the wild-type protein that localizes along the ciliary axoneme and/or is present in the ciliary base, mutant proteins rather enrich in the ciliary tip. In addition, immunocytochemistry revealed a decreased number of cilia in ICK p.R272Q-affected cells. Conclusions: Through identification of a novel ICK mutation, we confirm that disruption of ICK causes ECO syndrome, which clinically overlaps with the spectrum of ciliopathies. Expression of ICK-mutated proteins result in an abnormal ciliary localization compared to wild-type protein. Primary fibroblasts derived from an individual with ECO syndrome display ciliogenesis defects. In aggregate, our findings are consistent with recent reports that show that ICK regulates ciliary biology in vitro and in mice, confirming that ECO syndrome is a severe ciliopathy.Publication Open Access A novel insight into the pathophysiology of autoimmune hepatitis: an immune activator mutation in the FLT3 receptor(Kare Yayıncılık, 2021) Armutlu, Ayşe; Yüksel, Muhammed; Nazmi, Farinaz; Arıkan, Çiğdem; Teaching Faculty; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; Koç University Hospital; 133567; N/A; N/A; 240198Autoimmune hepatitis (AIH) is a chronic progressive autoimmune liver disease characterized by hypergammaglobulinemia, interface hepatitis, a female preponderance, and the presence of autoantibodies in most patients. The presence of HLA-DR3/DR4 and functional impairment in regulatory T cells are associated with AIH. However, AIH is a multifactorial complex disease. This report is a description of a case of seronegative AIH in a girl with chronic hepatitis, a high immunoglobulin E (IgE) level, perforating nodular dermatitis, and sheer eosinophilia. To re-evaluate the diagnosis, whole exon sequencing was performed. It was determined that the patient had ancestral haplotype A1-B8-DR3, which is associated with autoimmunity. Importantly, it was also noted that an undocumented point mutation (Ala627Thr) of the FMS-like tyrosine 3 kinase (FLT3) receptor was present. This FLT3 receptor gain-of-function mutation is associated with the activation of the mechanistic target of rapamycin (mTOR), and dendritic cell activation. In addition, a loss-of-function mutation in the melanocortin-3 receptor gene, which inhibits interleukin 4, was detected. The constellation of these immune deregulatory factors may have propagated auto-aggression of the liver, causing chronic hepatitis with AIH features. The findings of seronegativity with eosinophilia and a high IgE level led us to hypothesize that the pathognomonic mechanism in this case was unlike that of classic AIH pathophysiology. Since mTOR is constitutively activated, mTOR inhibitors may be a useful option to treat AIH and dermatitis.Publication Open Access A novel investigation method for axonal damage in neuromyelitis optica spectrum disorder: in vivo corneal confocal microscopy(Sage, 2021) Zimmermann, Hanna; Brandt, Alexander U.; Paul, Friedemann; Altıntaş, Ayşe; Taş, Ayşe Yıldız; Yılmaz, Sezen Güçlü; Bayraktutar, Betül; Cömert, Melis Cansu; Şahin, Afsun; Faculty Member; Faculty Member; Undergraduate Student; Faculty Member; Koç University Research Center for Translational Medicine (KUTTAM) / Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (KUTTAM); School of Medicine; 11611; N/A; N/A; N/A; N/A; 171267Background: neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory autoimmune disorder that damages optic nerves, brainstem, and spinal cord. In vivo corneal confocal microscopy (IVCM) is a noninvasive technique that provides corneal images with dendritic cells (DCs) and corneal subbasal nerve plexus (SBP), which arises from the trigeminal nerve. Objective: we investigated corneal SBP changes in NMOSD and proposed IVCM as a potential new disease severity biomarker for NMOSD. Methods: seventeen age-sex matched NMOSD patients and 19 healthy participants underwent complete neurologic and ophthalmologic examinations. The duration of disease, first symptom, presence of optic neuritis attack, antibody status, Expanded Disability Status Scale(EDSS) score and disease severity score(DSS) were recorded. Retinal nerve fibre layer (RNFL) thickness was measured with optical coherence tomography, and corneal SBP images were taken with IVCM. Results: NMOSD patients had significantly reduced corneal nerve fibre lenght-density and corneal nerve branch lenght-density compared with controls, while DC density was increased. NMOSD patients also showed significantly reduced RNFL thickness compared with controls. EDSS,DSS levels were inversely correlated with IVCM parameters. Conclusion: we observed significant corneal nerve fibre loss in NMOSD patients in relation to disease severity. IVCM can be a candidate noninvasive imaging method for axonal damage assessment in NMOSD that warrants further investigation.Publication Open Access A rare cause of root-compression: subaxial cervical synovial cyst in association with congenital fusion(Elsevier, 2015) Breckwoldt, Tabea; Öktenoğlu, Tunç; Sasani, Mehdi; N/A; Süzer, Süleyman Tuncer; Özer, Ali Fahir; Faculty Member; School of Medicine; 221691; 1022INTRODUCTION: Synovial cyst in the cervical spine is a very rare pathology that develops from the facet joint. When a synovial cyst emerges into the surrounding space, it can compress the nervous tissue and cause neurological symptoms. In the cervical area there is additionally the risk of spinal cord compression comparing to the more common presentation of synovial cysts in the lumbar spine. PRESENTATION OF CASE: Here, a cervical synovial cysts from the left facet joint grew into the spinal canal and compressed the C8 nerve root which led to root compressing symptoms. Interestingly we found this synovial cyst with congenital fusion. We identified only nine similar cases in the literature. The cyst was removed surgically and the patient discharged without complications. DISCUSSION: Numerous theories have been established to explain the pathogenesis of synovial cyst. Biomechanical alterations of the spine play a significant role in the development of synovial cyst. However, the etiology is still unclear. CONCLUSION: Surgical treatment should be considered in cervical synovial cysts with neurologic deficit or with cord compression or when the conservative treatment is ineffective.Publication Open Access A risk assessment comparison of breast cancer and factors affected to risk perception of women in Turkey: a cross-sectional study(Tehran University of Medical Sciences, 2017) Yüksel, Serpil; Uğraş, Gülay Altun; Çavdar, İkbal; Bozdoğan, Atilla; Gürdal, Sibel Özkan; Akyolcu, Neriman; Saraçoğlu, Gamze Varol; Özmen, Vahit; Esencan, Ecem; School of MedicineBackground: The increase in breast cancer incidence has enhanced attention towards breast cancer risk. The aim of this study was to determine the risk of breast cancer and risk perception of women, factors that affect risk perception, and to determine differences between absolute risk and the perception of risk. Methods: This cross-sectional study was carried out among 346 women whose score in the Gail Risk Model (GRM) was >= 1.67% and/or had a 1(st) degree relative with breast cancer in Bahçeşehir town in Istanbul, Turkey between Jul 2012 and Dec 2012. Data were collected through face-to-face interviews. The level of risk for breast cancer has been calculated using GRM and the Breast Cancer Risk Assessment Form (BCRAF). Breast cancer risk perception (BCRP), has been evaluated by visual analogue 100-cm-long scale. Results: Even though 39.6% of the women considered themselves as high-risk carriers, according to the GRM and the BCRAF, only 11.6% and 9.8% of women were in the "high risk" category, respectively. There was a positive significant correlation between the GRM and the BCRAF scores (P<0.001), and the BCRAF and BCRP scores (P<0.001). Factors related to high-risk perception were age (40-59 yr), post-menopausal phase, high-very high economic income level, existence of breast cancer in the family, having regular breast self-examination and clinical breast examination (P<0.05). Conclusion: In women with high risk of breast, cancer there is a significant difference between the women's risk perception and their absolute risk level. Screen reader support enabled.