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

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

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

Detoxification and Bioremediation of Sulfa Drugs and Synthetic Dyes by Streptomyces mutabilis A17 Laccase Produced in Solid State Fermentation

Laccase enzyme has many important applications as bioremediation and removal of environmental wastes and also in industrial processes. Therefore, large-scale of novel producers of laccase is demanded to use cheap and low cost substrates. Hence, solid state fermentation is the best strategy to achieve this proposes. The present study is designed to optimize laccase production by Streptomyces mutabilis A17 using agro-wastes including rice bran, castor seed cake, wheat bran, wheat straw, soybeans cake, peanut cake, cotton seed cake and chicken feathers. Cotton seed cake significantly enhanced S. mutabilis A17 laccase production when it was incubated for 6 days at 37°C and 70% moisture content in presence of yeast extract and glucose as the best nitrogen and carbon sources, respectively. After purification steps, the purified laccase showed maximum activity at 40°C and pH 8.0 within stability pH range of 7.0 to 9.0. Laccase activity was highly increased to 195, 180 and 166% by the addition of Ba+2, Cu+2 and Mn+2, respectively. Sulfa drugs and synthetic dyes cause various pollutants due to their toxic effects in different environments. Therefore, a purified laccase was utilized for removal of sulfa drugs as sulfadiazine (SDZ) and sulfathiazole (STZ) and also synthetic dyes. The results showed that the maximal enzymatic removal of SDZ and STZ was attained at 50°C and pH 6.0 for 1 h at presence of 1mM HBT(1-hydroxybenzotriazole) as a laccase mediator by removal percentage of 73% and 90%, respectively. Detoxification effects of laccase-treated sulfa drugs and two synthetic dyes; congo red and malachite green solutions, were investigated using microbial toxicity test. Our results indicated that the toxicity of these laccase-treated samples against tested bacterial strains were significantly decreased. It was concluded from this study that SSF laccase is playing an important role for decreasing the toxic effects of pharmaceutical wastes and organic pollutants

Trichobezoar in a patient with sickle cell anemia: A pain crisis is not always to blame

Trichobezoar, a ball of hair in the stomach, is an under-diagnosed problem that should be considered in patients with an upper abdominal pain and mass, weight loss, and bowel obstruction especially in young girls with underlying psychiatric disorder or mental retardation. Patients with sickle cell disease are susceptible to experiencing pica including, in rare occasions, trichophagia that could lead to formation of a trichobezoar, resulting in serious abdominal complications which are likely to be confused with ordinary vaso-occlusive pain crises. Here we present the rare case of gastric trichobezoar in a 9 year old girl with sickle cell anemia

Anatomical and ultrasonographic study of the stomach and liver in

sheep and goat