Chromosome 22 microdeletion in children with syndromic congenital heart disease by fluorescent in situ hybridization (FISH)

Congenital heart diseases (CHDs) are the most common of all birth defects. Congenital heart disease may occur as an isolated malformation or may be part of a syndrome. One of the most common syndromes associated with CHDs is the 22q11.2 microdeletion syndrome, the various conditions associated with del22q11 include DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAFS), and others. The abnormalities associated with this syndrome include parathyroid hypoplasia, thymic hypoplasia, immune defect, cleft palate, and abnormal facies. The cardiac defects are usually derived from conotruncus. The aim of the study was to detect the prevalence and the most common or frequent clinical manifestations of chromosome 22q11.2 microdeletion among children with syndromic congenital heart disease. The study was conducted on 20 children with syndromic CHD presenting to the Menoufiya University Hospitals, Egypt. Their ages ranged from 10 days to 12 years. Cytogenetic study and fluorescence in situ hybridization (FISH) were performed in the patients. The study revealed that 2 patients were with chromosomal aberrations [one with 46,XY, add (13)(p13) & the other with 47,XX,+13]. In addition, FISH revealed 4 patients (20%) with 22q11.2 microdeletion syndrome. The congenital heart malformations detected in patients with 22q11.2 microdeletion were somewhat unexpected and included VSD, ASD, PDA, and double outlet right ventricle. The most frequent extracardiac features were hypocalcemia, microcephaly, brain atrophy, epicanthus, low set posteriorly rotated ears, micrognathia, and anemia. The extracardiac features were in some cases subtle. It is concluded that 22q11.2 microdeletion is not uncommon and its manifestations are highly variable. This entails that screening for the microdeletion by FISH should be performed in all patients with syndromic CHD especially those with hypocalcemia, microcephaly, brain atrophy, epicanthus, low set ears, posteriorly rotated ears, micrognathia, and anemia. In addition, patients with minor features and those with non-conotruncal heart disease should not be excluded from the screening for 22 microdeletion.Keywords: Chromosome 22 microdeletion; Syndromic congenital heart disease; DiGeorge syndrome; Hypocalcemia; Velocardiofacial syndrom

Erythrocytes alterations of monosex tilapia (Oreochromis niloticus, Linnaeus, 1758) produced using methyltestosterone

AbstractThe present study aims to investigate the effects of methyltestosterone on monosex farmed tilapia, Oreochromis niloticus by detection of apoptosis, micronucleus and alterations of erythrocytes. Fishes were obtained from four localities (Assiut as a control and Beheira, Alexandria and Kafr EL-Sheikh; three farms from each governorate as farmed monosex produced using methyltestosterone). Blood smears were processed for Hematoxylin and eosin technique. The major alterations recorded in the red blood cells were as swelled cells (Sc), tear drop-like cells (Tr), and sickle cells (Sk). Also, a significant difference (P⩽0.001) between three governorates and Assiut was recorded in the micronucleus test, apoptosis and altered erythrocytes. These alterations are considered as an indication for performance and health of fish in the monosex culture medium indicating the side effects of overdose induction of MT

Effects of ultraviolet A on the activity of two metabolic enzymes, DNA damage and lipid peroxidation during early developmental stages of the African catfish, Clarias gariepinus (Burchell, 1822)

Many ultraviolet-A (UVA)-induced biochemical and physiological changes are valid as biomarkers using aquatic species for detection of the degree of stress. Changes in the concentration and activities of enzymes, such as glucose-6-phosphate dehyderogenase (G6PDH), lactate dehyderogenase (LDH), DNA damage and lipid peroxidation (LPO), can be used as biomarkers to identify possible environmental contamination in fish. This study aimed to investigate the impact of UVA on the activity of the selected enzymes, DNA damage and LPO during early developmental stages of the African catfish Clarias gariepinus. Embryo hemogenates were used for measurements of G6PDH, LDH, DNA damage and LPO concentrations and activities spectrophotometrically at 37°C. The normal ontogenetic variations in enzyme activities, DNA damage and LPO of the early developmental stages (24–168 h-PFS; hours-post fertilization stage) were studied. There was a significant decrease in the activity of G6PDH till 120 h-PFS. Then after 120 h-PFS, the activity of such enzymes insignificantly increased toward higher stages. The LDH activity was recorded with a pattern of decrease till 96 h-PFS, followed by a significant increase toward 168 h-PFS. The polynomial pattern of variations in DNA damage and LPO was also evident. The patterns of the enzyme activities, corresponding DNA damage and LPO of the early ontogenetic stages under the influence of three different UVA doses (15, 30 and 60 min), were recorded. The pattern of variations in G6PDH activity in UVA-induced groups was similar to that of the control group with variation in the magnitude of such activity. In all treated groups, LDH activity decreased till 96 h-PFS, then increased till 168 h-PFS. Within each of the embryonic stages, the increase in UVA led to a significant increase in DNA damage. A significant increase in lipid peroxidation under UVA doses was recorded. The variability in number and molecular weight of proteins under exposure to UVA was evident, reflecting some of the genetic and transcriptional changes during exposure and development

Integrated System Model of District Cooling for Energy Consumption Optimization

The successful modeling of a multi-plant district cooling (DC) system presents several challenges in integrating system level requirements with engineering analysis for verification and optimization. Currently, the ability to predict the behavior and performance parameters such as chilled water temperature difference, annual energy consumption, and central chiller plant coefficient of performance (COP) of the dynamic system is limited. Effective modeling and efficient simulation are required when it comes to complex physical systems. This paper presents an integrated model that combines system architecture with physical modeling to represent and simulate a multi-plant district cooling system (DCS). We refer to this model as model-based systems engineering (MBSE) model of the DC system. A systems modeling language (SysML) model is created to develop a multi-domain architecture of the DC system that will satisfy stakeholder needs and requirements. This model is capable of executing behavior and parametric aspects (or “views”) of the system. A closed-loop of information flow was developed to map SysML constructs with their respective Modelica models to support the integration of simulated experiments with SysML construct. The integrated MBSE model is successfully implemented and the results show that the IPLV.SI value of the chiller model was 6.4157, which is in the acceptable range. Based on the initial conditions provided by the actual plant, the simulation results show that the chilled water temperature predictions by Modelica as 4.8℃ verify the corresponding stakeholders’ requirements captured in the SysML model

Three new α-glucosidase inhibitors from guggul, the oleogum resin of Commiphora wightii

Three new compounds; epi-mukulin, (Z)- 1,2 dehydroguggulsterone and 6,7dehydro-20-hydroxygugglsterone were isolated from the n-hexane-soluble fraction (HSF) of the methanol extract of guggul, the oleogum resin of Commiphora wightii together with six known compounds; diasesartemin, (+)-epi-magnolin, (+)-diayangambin, gugglsterol I, (E)-guggulsterone and (Z)- guggulsterone. Their structures were elucidated on the basis of different spectroscopic data. α-Glucosidase inhibitory effects of HSF and the isolated compounds were evaluated calorimetrically. The HSF showed significant a-glucosidase inhibitory effect [IC50 value of 140 μg/ml (p< 0.05)]. Under the assay conditions, diasesartemin (IC50 = 60.6 ± 0.01 μM) was found to be more potent than the positive control, acarbose (IC50 = 92.94 ± 0.01 μM); a known α-glucosidase inhibitor (p<0.05). The IC50 values of epi-mukulin and (Z)-guggulsterone were found to be 159.33 and 132.14 μM, respectively. Other compounds showed weak α-glucosidase inhibitory effects; < 30% inhibition of the enzyme activity at 0.1 mg/ml.http://www.tandfonline.com/loi/gnpl20am201

Large scale production of antitumor cucurbitacins from Ecballium Elaterium using bioreactor

Bioreactor plays a vital role in the commercial production of secondary metabolites and pharmaceuticals from plant cells. Many physical factors, like the mixing intensity, shear stress and operation conditions were optimized as a first step in scaling up process. Qualitative and quantitative determination of cucurbitacins E and I in the extract were carried out using high-performance liquid chromatography (HPLC). After two weeks of equipping the reactor with marine impeller, both the growth rate and the concentration of cucurbitacins were increased. However, the increase in the aeration rate from 0.3 to 0.6 vvm induced the production of cucurbitacin E, it reduced the cucurbitacin I production. The highest recorded level of cucurbitacins was 0.3 and 0.1 g/L for cucurbitacin E and cucurbitacin I, respectively. Crude cucurbitacins extract showed potent antitumor activity in a range of 15.6 to 23.5 μg/ml against various carcinoma cell lines. In the current study, the optimizing condition for the production of cucubitacins E and I in Ecballium Elaterium and their biological activities as an antitumor and antimicrobial agent were evaluated.Keywords: Ecballium Elaterium, cucubitacins E, cucubitacins I, bioreactor, antitumo

The Pediatric Allergy and Immunology Unit of Ain Shams University in times of SARS-CoV-2 pandemic: approach and challenges

The Pediatric Allergy and Immunology (PAI) Unit of Ain Shams University, founded in 1988 by Professor Yehia El-Gamal and currently headed by Professor Shereen Reda, is a tertiary referral center for pediatric allergy, primary immunodeficiency, and rheumatology patients in Egypt. It serves more than 1300 patients with different immunological disorders, with an outpatient and inpatient sections and investigational laboratory. With the widespread of the SARS-CoV-2 and its declaration as a "pandemic", and owing to the heterogeneity of the different disorders managed and followed up in the unit, several measures have been taken in order to provide the necessary services for the patients. This service should maintain a rational balance between the need to mitigate the virus spread and to provide the optimum care for those who get infected, when in the meantime keep their original disease morbidity and mortality to the minimum. These measures were taken by the members of the PAI unit with the help of the head management team of Children’s Hospital, Ain Shams University and were subjected to continuous modification based on the evolving situation, emerging information, problems faced and the availability of human and medical resources

A Frontier Based Eco-Efficiency Assessment of Electric Vehicles: The Case of European Union Countries Using Mixed and Renewable Sources of Energy

Electric vehicles (EVs) are seen as a promising solution for creating more efficient and sustainable transportation systems. European Union (EU) members show a strong interest in implementing EVs, and the governments support the concept by offering facilities to the buyers. Although electric vehicles can be operated with nonpolluting fuels, such as natural gas, fuel cells are more efficient. Creating electricity can affect the environment and the economy. Three environmental features (consumption of water, GHG emissions, and energy consumption, plus GDP's contribution to EU gross domestic product) were analyzed for 28 EU member states to measure electric vehicle efficiency. In one of the DEA models, an input-oriented method was employed to compute the efficiency scores. The k-means clustering algorithm defined the high, medium, and low-efficiency groups. Even more so, the total efficiency scores in this study show that using solar energy outperforms mixed-source energy sources was found to be more efficient

Casbane diterpene as a promising natural antimicrobial agent against biofilm-associated infections

Croton nepetaefolius is a native plant from northeastern Brazil that belongs to the Euphorbiaceae family. The biological action of this plant has been extensively explored, being the secondary metabolites responsible for its properties alkaloids, diterpenes, and triterpenes. This study aimed to evaluate the ability of casbane diterpene (CD), isolated from the ethanolic extract of C. nepetaefolius, to inhibit microbial growth and biofilm formation of several clinical relevant species (bacteria and yeasts). It was found that CD possessed biocidal and biostatic activity against the majority of the species screened, with minimal active concentrations ranging between 125 and 500 µg/mL. In addition, it was observed that biofilm formation was inhibited even when the planktonic growth was not significantly affected. In conclusion, CD showed potential to be a natural tool for the treatment of diseases caused by different infectious microorganismsThis study was supported by FUNCAP and CNPq (Brazil) and by FCT (Portugal) through the project PTDC/SAU-ESA/64609/2006