Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients

How to Cite This Article: Boroujerdi R, Shariati M, Naddafnia H, Rezaei H. Small Duplication of HPRT 1 Gene May Be Causative For Lesh-Nyhan Disease in Iranian Patients. Iran J Child Neurol. 2015 Winter;9(1):103-106.AbstractDeficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along with a variety of neurological manifestations that depend on a degree of the enzymatic deficiency. Inheritance of HPRT deficiency is X-linked recessive; thus, males are generally more affected and heterozygous females are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. More than 300 mutations in the HPRT1 gene have been detected. Diagnosis can be based on clinical and biochemical findings as well as enzymatic and molecular testing. 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Protective effects of Ceratonia siliqua extract on protamine gene expression, testicular function, and testicular histology in doxorubicin-treated adult rats: An experimental study

Background: Spermatogenesis is a complex process that takes place under the influence of many different genes. Objective: The aim of this study was to investigate the possible effects of Ceratonia siliqua hydroalcoholic extract (CSHAE) on protamine gene expression, testicular function, and testicular histology in doxorubicin-treated rats. Materials and Methods: 56 adult male rats with a age range of 2.5 to 3 months (210 ± 10 gr) were divided into seven groups (n = 8/each). A) Control group was left untreated; B) Sham group received 0.3 ml distilled water intraperitoneally, C) Negative control group received 3 mg/kg doxorubicin, intraperitoneally once a week for 28 days; and D) Positive control group received 600 mg/kg of CSHAE orally for 48 days; E, F, G) the experimental groups 1, 2, and 3 received 150, 300, and 600 mg/kg of CSHAE respectively orally, for 48 days, as well as 3 mg/kg doxorubicin once a week for 28 days. Hematoxylin-eosin staining was used in the histological study of testes, and enzyme-linked immunosorbent assay method was used in measuring serum levels of testosterone. Protamine gene expression was determined by real-Time PCR method. Results: The mean body weight, testicular weight, testicular volume, testosterone level (p = 0.022), the count of Leydig, spermatogonia, spermatocyte, and spermatid cells, as well as protamine gene expression (p = 0.008) were significantly increased in the experimental group 2 compared to the negative control group. The regeneration of testicular tissue was observed in the experimental group 2. Conclusion: CSHAE has protective effect on doxorubicin-induced testicular injuries. Key words: Ceratonia siliqua, Doxorubicin, Protamine, Testicular injuries, Rat

Machine Learning for Determining Interactions between Air Pollutants and Environmental Parameters in Three Cities of Iran

Air pollution, as one of the most significant environmental challenges, has adversely affected the global economy, human health, and ecosystems. Consequently, comprehensive research is being conducted to provide solutions to air quality management. Recently, it has been demonstrated that environmental parameters, including temperature, relative humidity, wind speed, air pressure, and vegetation, interact with air pollutants, such as particulate matter (PM), NO2, SO2, O3, and CO, contributing to frameworks for forecasting air quality. The objective of the present study is to explore these interactions in three Iranian metropolises of Tehran, Tabriz, and Shiraz from 2015 to 2019 and develop a machine learning-based model to predict daily air pollution. Three distinct assessment criteria were used to assess the proposed XGBoost model, including R squared (R2), Root Mean Squared Error (RMSE), and Mean Absolute Error (MAE). Preliminary results showed that although air pollutants were significantly associated with meteorological factors and vegetation, the formulated model had low accuracy in predicting (R2PM2.5 = 0.36, R2PM10 = 0.27, R2NO2 = 0.46, R2SO2 = 0.41, R2O3 = 0.52, and R2CO = 0.38). Accordingly, future studies should consider more variables, including emission data from manufactories and traffic, as well as sunlight and wind direction. It is also suggested that strategies be applied to minimize the lack of observational data by considering second-and third-order interactions between parameters, increasing the number of simultaneous air pollution and meteorological monitoring stations, as well as hybrid machine learning models based on proximal and satellite data

Indirect Calorimetry during the COVID-19 Pandemic: Practical Guidance for Infection Control

Introduction: Indirect calorimetry (IC) is the optimal tool for the assessment of the resting energy expenditure, as well as the reference standard for energy expenditure measurement. During the outbreak of coronavirus, performing respiratory tests such as IC has become challenging. The current guidance was designed to prevent the virus spread at calorimetry centers. Methods: This protocol was devised in accordance with the latest recommendations of the World Health Organization (WHO) and Centers for Disease Control (CDC), as well as the related articles. Conclusion: Due to the specific features of COVID-19, unnecessary ICs should be avoided in the hotspots of the disease. If these tests must be performed, adherence to the validated infection control recommendations is critical

Protective and modulatory effects of royal jelly used against the induced changes in silver nanoparticles on the hippocampus of male rats

Objective (s): Silver nanoparticles (NPs) have attracted considerable attention owing to their important properties, including antimicrobial and anti-oxidative stress effects. However, high concentrations of silver NPs have been reported to have toxic effects. The present study aimed to evaluate the modulatory and protective effects of royal jelly (RJ) against the harmful effects of silver NPs on hippocampal functions, such as learning and memory. Materials and Methods: This experimental study was conducted on 40 male Wistar rats. The animals were divided into four groups of 10, including the control group (no silver NPs and RJ), RJ group, silver NPs plus RJ, and silver NPs. Some functions of the hippocampus (e.g., learning and memory) were evaluated using Morris memory function tests for four consecutive days. In addition, the relative expression of TRPV1 was assessed using real-time polymerase chain reaction (RT-PCR). At the final stage, hippocampal tissues were collected for histological studies.Results: Levels of learning and memory, relative gene expression ratio of TRPV1, and the histological changes in the hippocampus were significantly different in the groups receiving silver NPs compared to the groups administered with RJ. Conclusion: According to the results, RJ may be the effective in the protection against the adverse effects of silver NPs and improve the function of the hippocampus

Towards principled design of cancer nanomedicine to accelerate clinical translation

Nanotechnology in medical applications, especially in oncology as drug delivery systems, has recently shown promising results. However, although these advances have been promising in the pre-clinical stages, the clinical translation of this technology is challenging. To create drug delivery systems with increased treatment efficacy for clinical translation, the physicochemical characteristics of nanoparticles such as size, shape, elasticity (flexibility/rigidity), surface chemistry, and surface charge can be specified to optimize efficiency for a given application. Consequently, interdisciplinary researchers have focused on producing biocompatible materials, production technologies, or new formulations for efficient loading, and high stability. The effects of design parameters can be studied in vitro, in vivo, or using computational models, with the goal of understanding how they affect nanoparticle biophysics and their interactions with cells. The present review summarizes the advances and technologies in the production and design of cancer nanomedicines to achieve clinical translation and commercialization. We also highlight existing challenges and opportunities in the field

Equations of state with group contribution binary interaction parameters for calculation of two-phase envelopes for synthetic and real natural gas mixtures with heavy fractions

YesThree equations of state with a group contribution model for binary interaction parameters were employed to calculate the vapor-liquid equilibria of synthetic and real natural gas mixtures with heavy fractions. In order to estimate the binary interaction parameters, critical temperatures, critical pressures and acentric factors of binary constituents of the mixture are required. The binary interaction parameter model also accounts for temperature. To perform phase equilibrium calculations, the heavy fractions were first discretized into 12 Single Carbon Numbers (SCN) using generalized molecular weights. Then, using the generalized molecular weights and specific gravities, the SCN were characterized. Afterwards, phase equilibrium calculations were performed employing a set of (nc + 1) equations where nc stands for the number of known components plus 12 SCN. The equations were solved iteratively using Newton's method. Predictions indicate that the use of binary interaction parameters for highly sour natural gas mixtures is quite important and must not be avoided. For sweet natural gas mixtures, the use of binary interaction parameters is less remarkable, however

The annealing investigation on morphology and photoluminescence properties of In

Synthesis of In2O3 nanostructures grown on Si substrate by the resistive evaporation of metallic indium granules followed by dry oxidation process has been articulated. To prepare nucleation growth sites, selected samples pre-annealed around indium melting point in free-oxygen atmosphere and then to fabricate 1-D nanostructures, they annealed in a horizontal thermal furnace in presence of argon and oxygen. For comparison, one sample, the same origin as initially pre-annealed samples, was excluded in pre-annealing process but presented in annealing step. Characterization of the products with FESEM revealed that the pre-annealed obtained nanostructures are mostly nanorod and nanowire with different morphologies. For the comparative sample, no 1-D structures achieved. X-ray diffraction (XRD) patterns for pre-annealed samples indicated that they are crystalline and the comparative one is polycrystalline. Photoluminescence (PL) measurements carried out at room temperature revealed that emission band shifted to shorter wavelength from pre-annealed samples to comparative one

Optical Properties of ZnO Nanowires and Nanorods Synthesized by Two Step Oxidation Process

ZnO nanowires with a diameter of 70 nm and nanorods with a diameter in the range of 100-150 nm and two micrometer in length were grown on glass substrates by resistive evaporation method and applying a two step oxidation process at low temperatures, without using any catalyst, template or buffer layer. XRD pattern of these nanostructures indicated a good crystallinity property with wurtzite hexagonal structure. Photoluminescence measurement revealed three band emissions; one sharp strong peak in the UV region and two weaker peaks in the visible region, indicate good optical properties of nanorods synthesized by this method. Heat treatment in oxygen-rich atmosphere results to decrease of deep-level emission intensity in the PL spectra. The relatively high intensity of UV emission implies that this approach is a simple and promising method for fabricating ZnO nanorods in order to be used in optoelectronic devices especially in the UV range of the spectrum

Coupling Second-Order Excitation-Emission Spectrofluorimetric Data with Standard Addition method to Quantify Carvedilol in Real Samples

Prediction using pure standards is expected to be biased whenever the slope of the calibration is affected by the presence of sample matrix. Moreover, in the presence of unknown spectral interferents, first-order algorithms like partial least squares cannot be used. In this study, a method for determination of carvedilol (CAR) in tablet and urine samples is proposed by excitation-emission fluorescence spectroscopy (EEM). The multivariate curve resolution-alternating least-squares (MCR-ALS) coupled with trilinearity constraint exploiting the second order advantage is applied for the analysis of EEMs. Moreover, the combination of standard addition with MCR-ALS was used to correct the matrix effect. Indeed, by the proposed strategy, both matrix effect and the problem of the presence of unknown interferents in determination of CAR are overcome.       The MCR-ALS method was applied on EEMs under non-negativity and trilinearity constraints. For both samples, CAR was quantified at low mg l-1 level with an overall prediction error of -3.1% and -4.0% in urine and tablet samples, respectively