Assessment of extracorporeal photopheresis related cell damage.

AIM: Extracorporeal photochemotherapy (ECP) is emphasized chiefly as it has a high safety profile. However, the genotoxic effects of ECP are not known. This experimental study aimed to assess the potential genotoxic impact of ECP treatment by the AKLIDES system, a new generation standardized and automated evaluation method. MATERIALS AND METHODS: Buffy coats were obtained from the blood of 26 healthy volunteers, and ECP was applied to 2 j/cm2 UV-A for two hours. After the DNA isolation procedure, all slides were stained with DAPI to visualize lymphocytes, FITC for visualization of damage foci marker (γH2AX), and APC for visualization of repair foci marker (53BP1). With the AKLIDES imaging system, all parameters were evaluated. RESULTS: Median damage marker Foci γ-H2AX before and after ECP were 11.42 and 18.65 arbitrary units, respectively (p = 0.153). Median repair marker foci 53BP1 (repair biomarker) before and after ECP were measured as 4.17 and 6.7 arbitrary units. The difference was also not statistically significant (p = 0.088). Although 58 % of cells were affected by ECP irradiation, as shown by FITC fluorescent staining, no statistical difference was found in any genotoxicity parameters. CONCLUSION: We found an increase in the foci γ-H2AX parameter, one of the objective indicators of DNA breaks, and an increase in the foci 53BP1 parameter, which indicates the post-damage repair mechanisms after ECP. However, further in vitro, and in vivo studies are needed with large sample volumes to demonstrate the significance.

Vicious cycle between severity of childhood obesity and pandemic: Potential impact of metformin.

Introduction: COVID-19 is currently a global pandemic, and initial reports of identified COVID-19 lockdown and limitations can adversely affect childhood obesity and metabolic health. Studies conducted in recent years have shown that the rate of obesity in childhood increases with the changing lifestyle with the pandemic. However, there is insufficient data on how the situation changes and how metabolism is affected in those, who are already obese. The aim of this paper was to determine how the pandemic affects the current status, severity, and metabolic parameters of obese children. We also attempted to show potential effects of metformin therapy. Methods: The study was conducted with the participation of 101 patients with obesity (The mean age was 13.6 ± 2.2). The patients were evaluated using pre- and post-lockdown data with an interval of 6 months. The new classification system was used to determine the severity of obesity. All anthropometrics, metabolic parameters (Blood glucose, insulin, HbA1C, lipid profile), lifestyle, and comorbidities were evaluated by dividing the participants into various subgroups according to their obesity and metformin usage status. Results: Our data shows that weight, height, BMI, BMI-SD, and BMI percentiles all increased significantly, after the pandemic started. The severity of obesity increased statistically (overweight decreases and class 2 obesity increases, p = 0.001). No change was observed in metabolic parameters. Surprisingly, a significant increase was observed in insulin and HOMA-IR values in the group with-metformin. Discussion: Most studies about childhood obesity have only focused on obesity increases and pandemic relation. Our study showed that although there was no significant change in metabolic status at the end of a lockdown period, there was a serious increase in the severity of obesity. Metformin use had no effect on either obesity or metabolic parameters, and even an increase in insulin resistance indicators was observed.

Clinical and genetic studies of thiamine metabolism dysfunction syndrome-4: case series and review of the literature.

Thiamine metabolism dysfunction syndrome-4 (THMD-4) is an autosomal recessive inherited rare disease (OMIM #613710) characterized by febrile illness associated episodic encephalopathy, leading to transient neurological dysfunction and progressive polyneuropathy. We report three patients from two different families with normal development, episodic encephalopathy, gait disorder, progressive chronic polyneuropathy characterized by motor difficulties, distal weakness, and hoarseness (dysphonia). We identified a homozygous missense c.576G>C, p.(Gln192His) variant in the SLC25A19 gene in both families by whole-exome sequencing. Following genetic diagnosis, thiamine replacement therapy was started, and improvement was observed in all affected patients. We highlight the associated phenotypes of an SCL25A19 mutation leading to clinical features of THMD-4.

Evaluation of primary care physicians' approaches to hemophilia and bleeding disorders: a questionnaire survey.

Bleeding disorders are causes of great concern and panic for parents and primary care providers. Lack of knowledge and awareness on appropriate screening tests and factor product preparation contributed to potential diagnostic delays, increased complications, and economic costs. This study aimed to determine and compare the approach of primary care physicians (including general practitioners) and emergency physicians with a questionnaire including simulation-based cases on hemophilia. This simulation and two-stage questionnaire study was conducted with 244 participants. Before-after questionnaires, two case simulations, a brief presentation, and statistical analysis were performed. Participants mostly preferred tests, such as prothrombin time (PT) or partial thromboplastin time (PTT) to bleeding time for primary hemostasis (PT/PTT n : 192, 84.2%, bleeding time n : 94, 41.2%). Similar results were found for secondary hemostasis (bleeding time n : 144, 63.4%). There was a lack of knowledge in the management of simulation-based cases of acute hemorrhagic complications and factor product preparation (complication case: correct n : 100, 55.2%; initial doses correct n : 56, 43.4%, factor preparing correct n : 37, 49.3%, factor admission correct n : 36, 24.3%). All changed significantly, after the presentation ( P  = 0.000). Our study shows that there is probably a lack of knowledge of diagnostic investigations and appropriate factor product preparation with possible consequences for patients and economics.