Epigenetics in Bladder Cancer: A Review of the Literature

Bladder cancer (BC) is the 10th most frequent type of cancer worldwide, with around 549.000 new cases and 200.000 deaths/year and it has the highest incidence rates with a strong male and elderly predominance. Besides, BC is a significant burden on health-care systems in terms of long-term therapy due to its high risk of recurrence. The investigation for a biomarker that high sensitivity and specificity to be used in the diagnosis and follow-up of BC is still ongoing because cystoscopic imaging, which is currently using it as the gold-standard technique, is an invasive procedure. Opportunely, the recent epigenetic-based studies arc provided successful results for this subject. Therefore, in this study, we review that the DNA methylation and microRNAs relationship with BC were investigated in the light of current studies in the literature, particularly using the meta-analyses. The evaluation of the association of BC with DNA methylation showed that the hypermethylation was parallel with the muscle invasion, increased tumor stage and grade, poor prognosis, and cancer-associated mortality. Other than, many researchers suggest that various genes or gene panels as the methylation-based biomarkers for use in the follow-up of BC. Similarly, the miRNA panels may successfully differentiate BC samples from healthy controls, and provide successful estimations for survival and recurrence. To all appearances, the increase of the number of epigenetic-based research in BC not only will provide useful data for clarifying the BC progression, but will also increase the number of biomarkers with high sensitivity and specificity

Tümör Nekrosis Faktor-Alfa inhibitörü Kullanımına Bağlı Olarak Gelişen Psöriazis: Olgu Serisi ve Literatürün Gözden Geçirilmesi

Tümör nekrozis faktor-alfa (TNF-alfa) inhibitörleri psöriazisin tedavisinde etkili olmasına rağmen TNF-alfa inhibitörleri ile tedavi edilen çeşitli romatizmal hastalıklarda psöriazisin indüklenebildiği bildirilmektedir. Bu olgu serisinde hastaların birinde iki farklı TNF-alfa inhibitörü kullanımına bağlı olmak üzere dört hastada ilaca bağlı olarak gelişen psöriazis vakaları sunulmaktadır. Vaka 1: Ankilozan spondilit tanısıyla takip edilen ve infliksimab tedavisi başlanan 31 yaşında erkek hastada tedavinin 2.haftasında ekstremitelerde eritemli skuamlı lezyonlar gelişti. İki ay sonra tekrar başlanan etanersept tedavisinin 1.ayında ise saçlı deride yoğun olmak üzere tüm gövde ve ekstremitelerde psöriatik lezyonlar gelişti. Vaka 2: Romatoid artritli 53 yaşında bayan hastada etanersept tedavisinin 2.ayında her iki ayak bileği çevresinde eritemli skuamlı lezyonlar oluştu. Vaka 3: Ankilozan spondilitli 34 yaşında bayan hastada infliksimab tedavisinin 10.ayında her iki elinde palmar psöriatik lezyonlar gelişti. Vaka 4: Ankilozan spondilit tanısıyla takip edilen 40 yaşında bayan hastada infliksimab tedavisinin 2.yılında el ve ayaklarında püstüler lezyonlar gelişti. Hastaların hiçbirinde psöriazis için aile öyküsü yoktu. Vakaların üçünde psöriazis tanısı histopatolojik olarak doğrulandı. Romatoid artrit, ankilozan spondilit ve diğer spondiloartritlerde TNF-alfa inhibitörü kullanımına bağlı olarak psöriazis indüklenebilmektedir. En fazla püstüler form ile plak tipi psöriazis görülmekte ve palmoplantar dağılıma rastlanmaktadırAlthough tumor necrosis factor-alpha (TNF-_) antagonists are shown to be effective in the treatment of psoriasis, induction of psoriatic skin lesions have been seen in patients with different rheumatic conditions who were treated with TNF-_ antagonists. In this case series, we report four cases that developed psoriatic lesions; in one of the cases, psoriasis was associated with two different TNF-_ antagonists. Case 1: A 31-year-old man with ankylosing spondylitis developed erythematous and squamous lesions on his extremities in the 2nd week of infliximab treatment. Two months later he began to receive etanercept, and psoriatic skin lesions developed on the entire trunk and extremities, and predominantly on the scalp after one month. Case 2: A 53-year-old female with rheumatoid arthritis developed psoriatic skin lesions in the ankle region after two months' treatment with etanercept. Case 3: A 34-year-old female with ankylosing spondylitis developed psoriatic lesions on her palms after 10 months' treatment with infliximab. Case 4: A 40-year-old female with ankylosing spondylitis developed pustular lesions on her palms and soles after two years' treatment with infliximab. The patients had no personal or family history of psoriasis. The diagnosis of psoriasis was confirmed by skin biopsy in three of the cases. Psoriatic skin lesions can be induced as a result of treatment with TNF-_ antagonists in patients with rheumatoid arthritis, ankylosing spondylitis and other spondyloarthropathies. The most common form is plaque or pustular pattern with palmoplantar distributio

Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome

OBJECTIVE: Chronic kidney disease (CKD) remains one of the major common health problems, and the number of people affected by the disease is progressively increasing in Turkey and worldwide. This study aimed to investigate molecular defects in Alport syndrome (AS) and other genes in patients with clinically suspected CKD using whole-exome sequencing (WES).METHODS: Patients with clinical suspicion of CKD were included in the study. Molecular genetic analyses were performed on genomic DNA by using WES.RESULTS: A total of 15 with 5 different pathogenic or likely pathogenic variants were identified in CKD patients, with a diagnostic rate of 30%. Eight variants of uncertain significance were also detected. In this study, 10 variants were described for the first time. As a result, we detected variants associated with CKD in our study population and found AS as the most common CKD after other related kidney diseases.CONCLUSIONS: Our results suggest that in heterogeneous diseases such as CKD, WES analysis enables accurate identification of underlying molecular defects promptly. Although CKD accounts for 10-14% of all renal dysfunction, molecular genetic diagnosis is necessary for optimal long-term treatment, prognosis, and effective genetic counseling