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

Improvement of drought tolerance in five different cultivars of Vicia faba with foliar application of ascorbic acid or silicon

Aim of study: To explore the role of ascorbic acid (AsA) or silicon (Si) in improving drought tolerance in five faba bean cultivars under irrigation water deficit (IWD).Area of study: The experimental farm; 30° 36′ N, 32° 16′ E, Egypt.Material and methods: Three drip irrigation regimes (WW, well-watered, 4000 m3 water ha-1; MD, moderate drought, 3000 m3 water ha-1; and SD, severe drought, 2000 m3 water ha-1) were applied to plants, which were sprayed 25, 40, and 55 days after sowing with 1.5 mM AsA or 2.0 mM Si vs distilled water as a control.Main results: Drought negatively affected physiological attributes (photosynthetic pigments, gas exchange parameters, relative water content, membrane stability index, electrolyte leakage (EL), and lipid peroxidation), which restricted plant growth and yields, and stimulated alterations in both enzymatic and non-enzymatic antioxidant activities. However, AsA or Si application mitigated drought effects on physiological attributes, improving growth, yields and water use efficiency by raising antioxidant activities and suppressing lipid peroxidation and EL in stressful cultivars. The mitigating effects of AsA and Si were more pronounced under MD.Research highlights: ‘Nubaria-2’, ‘Giza-843’, and ‘Sakha-3’ were more tolerant than ‘Giza-716’ and ‘Sakha-4’, suggesting the use of AsA or Si to ameliorate the IWD effects on stressful cultivars. Certain physiological traits exhibited positive association with growth and seed yield, demonstrating their importance in enhancing seed yield under irrigation treatments

Epigenetic harnessing of HCV via modulating the lipid droplet-protein, TIP47, in HCV cell models

AbstractThis study aimed at identifying potential microRNAs that modulate hepatic lipid droplets (LD) through targeting the Tail interacting protein of 47kDa (TIP47) in HCV infection.Bioinformatics analysis revealed that miR-148a and miR-30a potentially target TIP47. Expression profiling showed that both microRNAs were downregulated, while TIP47 was upregulated in liver biopsies of HCV-infected patients. Forcing the expression of both microRNAs in JFH-I infected, oleic acid-treated Huh7 cells, significantly suppressed TIP47 expression and reduced cellular LDs with marked decrease in viral RNA. This study shows that miR-148a and miR-30a, regulate TIP47 expression and LDs in HCV infected cells

The Effect of Opioid Receptor Blockade on the Neural Processing of Thermal Stimuli

The endogenous opioid system represents one of the principal systems in the modulation of pain. This has been demonstrated in studies of placebo analgesia and stress-induced analgesia, where anti-nociceptive activity triggered by pain itself or by cognitive states is blocked by opioid antagonists. The aim of this study was to characterize the effect of opioid receptor blockade on the physiological processing of painful thermal stimulation in the absence of cognitive manipulation. We therefore measured BOLD (blood oxygen level dependent) signal responses and intensity ratings to non-painful and painful thermal stimuli in a double-blind, cross-over design using the opioid receptor antagonist naloxone. On the behavioral level, we observed an increase in intensity ratings under naloxone due mainly to a difference in the non-painful stimuli. On the neural level, painful thermal stimulation was associated with a negative BOLD signal within the pregenual anterior cingulate cortex, and this deactivation was abolished by naloxone

Relaxed I-SHOT trust-region algorithm for solving multi-objective economic emission load dispatch problem

In this paper, a new algorithm for tackling nonlinear constrained multi-objective optimization problems is introduced. This algorithm, which we call relaxed the interactive sequential hybrid optimization technique (relaxed I-SHOT), is based on a hybrid method between the I-SHOT method and step method (STEM) to transform a multi-objective problem into a single-objective one. An active set strategy is used together with a suggested penalty method to transform a single-objective constrained optimization problem into unconstrained one. A trust-region globalization strategy is added to the algorithm to solve the obtained unconstrained problem to ensure global convergence. The suggested approach is utilized to solve the multi-objective economic emission load dispatch (EELD) problems to assert the effectiveness of the proposed algorithm. The proposed algorithm is tested on the standard IEEE 30-bus 6-generator test system. The results of the proposed approach are compared against those reported in the literature. The comparison asserts the potential of the proposed algorithm to solve the EELD problem

Trust-Region Based Penalty Barrier Algorithm for Constrained Nonlinear Programming Problems: An Application of Design of Minimum Cost Canal Sections

In this paper, a penalty method is used together with a barrier method to transform a constrained nonlinear programming problem into an unconstrained nonlinear programming problem. In the proposed approach, Newton’s method is applied to the barrier Karush–Kuhn–Tucker conditions. To ensure global convergence from any starting point, a trust-region globalization strategy is used. A global convergence theory of the penalty–barrier trust-region (PBTR) algorithm is studied under four standard assumptions. The PBTR has new features; it is simpler, has rapid convergerce, and is easy to implement. Numerical simulation was performed on some benchmark problems. The proposed algorithm was implemented to find the optimal design of a canal section for minimum water loss for a triangle cross-section application. The results are promising when compared with well-known algorithms