Methylation Status of Alu and LINE-1 Interspersed Repetitive Sequences in Behcet's Disease Patients

Behcet's Disease (BD) is a multisystem chronic inflammatory disease. The pathology is believed to involve both genetic susceptibility and environmental factors. Hypomethylation leading to activation of interspersed repetitive sequences (IRSs) such as LINE-1 and Alu contributes to the pathologies of autoimmune diseases and cancer. Herein, the epigenetic changes of IRSs in BD were evaluated using combined bisulfite restriction analysis-interspersed repetitive sequences (COBRA-IRS). DNA from neutrophils and peripheral blood mononuclear cells (PBMCs) of BD patients with ocular involvement that were in active or inactive states and healthy controls were used to analyze LINE-1 and Alu methylation levels. For Alu sequences, significant differences were observed in the frequency of (CC)-C-u-C-u alleles between PBMCs of patients and controls (p = 0.03), and between inactive patients and controls (p = 0.03). For neutrophils, the frequency of (CC)-C-u-C-u was significantly higher between patients and controls (p = 0.006) and between inactive patients and controls (p = 0.002). The partial methylation ((CC)-C-u-C-m + (CC)-C-m-C-u) frequencies of Alu between inactive patients and control samples also differed (p = 0.02). No statistically significant differences for LINE-1 were detected. Thus, changes in the methylation level of IRS elements might contribute to the pathogenesis of BD. The role of Alu transcripts in BD should be investigated further

One -year experience in the retinopathy of prematurity: frequency and risk factors, short-term results and follow-up

AIM: As a result of the increase in premature births and the advances in neonatal intensive care, retinopathy of prematurity (ROP) remains one of the most important causes of childhood blindness worldwide. The main factors in the development of ROP are gestational age, birth weight and oxygen therapy. ROP continues to gain importance due to the increasing survival rates of more immature babies

Efficacy of Phenylalanine- and Tyrosine-Restricted Diet in Alkaptonuria Patients on Nitisinone Treatment: Case Series and Review of Literature.

Introduction: Nitisinone used in alkaptonuria (AKU) can result in keratopathy due to strongly increased tyrosine levels. Methods: This study aimed to investigate nutritional status and changes in plasma tyrosine and phenylalanine and urinary homogentisic acid (u-HGA) levels in 8 adult AKU patients (mean age, 56.3 +/- 4.7 years) who were on tyrosine/phenylalanine-restricted diet together with 2 mg/day nitisinone. Results: The treatment period was 23.4 +/- 6.9 months. Daily dietary protein intake was restricted to 0.8-1.0 g/kg/day. Daily tyrosine intake was restricted to 260-450 mg/day for females and 330-550 mg/day for males. Tyrosine/phenylalanine-free amino acid supplements accounted for an average of 56.1% of daily protein intake. The following assessments were performed: anthropometric and plasma tyrosine level measurements every 2 months; ophthalmological examination every 6 months, and nutritional laboratory analyses and measurements of plasma amino acids and u-HGA once in a year. It was targeted to keep the plasma tyrosine level 700 mu mol/L was detected. The u-HGA level before and after the 1st year of treatment was 1,429.3 +/- 1,073.4 mmol/mol creatinine and 33.6 +/- 9.5 mmol/mol creatinine, respectively. None of the patients developed keratopathy or experienced weight loss and protein or micronutrient deficiency. Conclusion: AKU patients should receive tyrosine/phenylalanine-restricted diet for reducing plasma tyrosine level to the safe range. Tyrosine/phenylalanine-free amino acid supplements can be safely used to enhance dietary compliance. Keratopathy and nutrient deficiency should be frequently monitored. </p

Evaluation of DNA Damage in Patients with a Neuroendocrine Tumor

Objective: Neuroendocrine tumors develop from the neuroendocrine cells of the endocrine system. As these tumors are extremely slow growing compared with other cancers, they often take years to reach a measurable dimension, thus leading to the late diagnosis, which has adverse effects on the survival and quality of life of patients. There is a link between many types of cancer and genomic instability, thus the markers associated with genomic instability can be used for early diagnosis of the disease or cancer-related changes. Comet assay is the most commonly used method to test genomic instability or DNA damage. To the best of our knowledge, no data are available on DNA damage in patients with neuroendocrine tumors. This study aimed to investigate the possible risk of DNA damage in a patient with neuroendocrine tumors using the comet assay

The Real-World Experience With Single Agent Ibrutinib in Relapsed/Refractory CLL

We evaluated the safety and efficacy of single-agent ibrutinib in 200 patients presenting with relapsed/refractory CLL in real-world settings. With an estimated median OS of 52 months, 146 patients (75%) achieved at least PR; 16 (8.7%) patients discontinued ibrutinib due to adverse events. The results indicate good safety and efficacy for single-agent ibrutinib in R/R CLL in daily practice