Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus

Background: Immunodeficiency, Centromeric region instability, and Facial anomalies syndrome (ICF) is a rare autosomal recessive disorder with Centromeric instability as a hallmark. Method: In this case report, we describe an Iranian 6-year-old male who was diagnosed with ICF syndrome. He had a history of recurrent infections, hydrocephalus report in pregnancy, failure to thrive, facial anomalies, global developmental delay, and umbilical hernia. Results: The investigation showed esophageal dilatation in barium swallow, ascending aortic dilatation in echocardiography and cutis laxa in skin biopsy. In laboratory data, impaired antibody function was observed. Finally, to find the probable causative genetic variant, a whole exome sequencing was performed. The data analysis using bioinformatics tools revealed c.1592G>A mutation in the exon 15 of DNMT3B. With respect to the diagnosis of ICF syndrome, our patient was treated with intravenous immunoglobulin (IVIG). Conclusion: It is necessary to perform periodic neurologic and ophthalmologic examinations. Echocardiography must be done annually. In addition, the possibility of HSCT should be evaluate

Improvement the texture properties and acceptability of silver carp investigation on possibility of burger by addition pectin in the fish burger material

In this study the physical properties of silver carp burger over a period of six months at a temperature of -18 ċ were studied using pectin. Indicators such as hardness texture, juiciness, flavor and overall acceptance of the product containing. The product were evaluated using qualified assessors، the microbial, chemical markers to evaluate the qualitative change such as peroxide treatments, total volatile nitrogen bases ، total count of bacteria and examined psychotropic of tests six months of treatments carried out on a monthly basis. The results indicate that the addition of pectin 0.3 percent of total admissions acceptance of burgers tissue was obtained and significant differences are. The chemical test results were also increased with storage time burger in refrigerators -18 degrees. Range of volatile nitrogen bases out of 15.2±1.2 at the time of 26/5±1.17 mg/100, the peroxide from 0.6±0.61 to 3/56±0.6 meq/kg of oxygen was. Thus despite a significant increase in indicators of physical Chemical and sensory evaluation of texture analysis. In the past six months storage period of -18 degrees, burger productive uses of pectin 0/3 percent of the limit between acceptable and will was

Rapid Assessment of Dose for Large-Scale Individual: a Feasibility Study

In certain situations, it is crucial to quickly estimate the dose for radiation workers across different weight percentiles. This study sets out to create weight percentiles above 50 by adding proper adipose and muscle layers around the revised ORNL hermaphrodite phantom torso. Neutron fluence-to-organ absorbed and effective dose conversion coefficients were calculated to different weight percentiles. Simulations were performed in the energy range 10-9 to 20 MeV, under Six different source irradiation geometries: anterior–posterior (AP), posterior–anterior (PA), right-lateral (RLAT), left-lateral (LLAT), Rotation (ROT), and Isotropic (ISO) by MCNPX code. The maximum relative differences observed between the 50th and other percentiles ranged from 11% to 28%. Comparative analysis of the fluence-to-absorbed and effective dose conversion coefficients between the 95th percentile and VIPMAN indicated that approximately 58% and 57% of the data had a relative difference below 15%, respectively overall neutron energies and irradiation geometries. Our finding demonstrate that this straightforward method is reliable, especially when the whole body is irradiated in the energies above 1 MeV

Production of Trans

In this study, production of trans‐free fats through chemical interesterification of binary blends of palm stearin (PS) and sunflower oil (SFO) and their physicochemical changes after the process was investigated. Analyzed responses included fatty acid and triacylglycerol composition, iodine value, free fatty acid (FFA), soap content, peroxide value (PV), plastic range, slip melting point (SMP), solid fat content (SFC), and oxidative stability along with potential applications of the interesterified fats. Transfatty acid content of PS/SFO blends was lower than 0.36%. Chemical interesterification increased the FFA and soap content and also decreased PV and oxidative stability index (at 110°C). After the process, SMP and SFC were reduced, also the plastic range transferred to the lower temperatures. All the interesterified blends melted completely at the body temperature, and their SFC was <32%. The melting characteristics of the PS/SFO‐interesterified blends were suitable for many fat‐based products

PEGylated superparamagnetic iron oxide nanoparticles (SPIONs) ameliorate learning and memory deficit in a rat model of Alzheimer's disease: Potential participation of STIMs

The amyloid-beta (Aβ) fibrillation process seems to execute a principal role in the neuropathology of Alzheimer's disease (AD). Accordingly, novel therapeutic plans have concentrated on the inhibition or degradation of Aβ oligomers and fibrils. Biocompatible nanoparticles (NPs), e.g., gold and iron oxide NPs, take a unique capacity in redirecting Aβ fibrillation kinetics; nevertheless, their impacts on AD-related memory impairment have not been adequately evaluated in vivo. Here, we examined the effect of commercial PEGylated superparamagnetic iron oxide nanoparticles (SPIONs) on the learning and memory of an AD-animal model. The outcomes demonstrated the dose-dependent effect of SPIONs on Aβ fibrillation and learning and memory processes. In vitro and in vivo findings revealed that Low doses of SPIONs inhibited Aβ aggregation and ameliorated learning and memory deficit in the AD model, respectively. Enhanced level of hippocampal proteins, including brain-derived neurotrophic factor, BDNF, phosphorylated-cAMP response element-binding protein, p-CREB, and stromal interaction molecules, e.g., STIM1 and STIM2, were also observed. However, at high doses, SPIONs did not improve the detrimental impacts of Aβ fibrillation on spatial memory and hippocampal proteins expression. Overall, we revealed the potential capacity of SPIONs on retrieval of behavioral and molecular manifestations of AD in vivo, which needs further investigations to determine the mechanistic effect of SPIONs in the AD conundrum

Bucladesine Attenuates Spatial Learning and Hippocampal Mitochondrial Impairments Induced by 3, 4-Methylenedioxymethamphetamine (MDMA)

Neurotoxic effects of systemic administration of 3, 4- methylenedioxymethamphetamine (MDMA) has been attributed to MDMA and its metabolites. However, the role of the parent compound in MDMA-induced mitochondrial and memory impairment has not yet been investigated. Moreover, it is not yet studied that analogs of 3�, 5�-cyclic adenosine monophosphate (cAMP) could decrease these neurotoxic effects of MDMA. We wished to investigate the effects of the central administration of MDMA on spatial memory and mitochondrial function as well as the effects of bucladesine, a membrane-permeable analog of cAMP, on these effects of MDMA. We assessed the effects of pre-training bilateral intrahippocampal infusion of MDMA (0.01, 0.1, 0.5, and 1 μg/side), bucladesine (10 and 100 μM) or combination of them on spatial memory, and different parameters of hippocampal mitochondrial function including the level of reactive oxygen species (ROS) production, mitochondrial membrane potential (MMP), mitochondrial swelling, mitochondrial outer membrane damage, the amount of cytochrome c release as well as hippocampal ADP/ATP ratio. The results showed that MDMA caused spatial memory impairments as well as mitochondrial dysfunction as evidenced by the marked increase in hippocampal ADP/ATP ratio, ROS level, the collapse of MMP, mitochondrial swelling, and mitochondrial outer membrane damage leading to cytochrome c release from the mitochondria. The current study also found that bucladesine markedly reduced the destructive effects of MDMA. These results provide evidence of the role of the parent compound (MDMA) in MDMA-induced memory impairments through mitochondrial dysfunction. This study highlights the role of cAMP/PKA signaling in MDMA-induced memory and mitochondrial defects. © 2020, Springer Science+Business Media, LLC, part of Springer Nature