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

EXPERIMENTAL SHEAR RESISTANCE EVALUATION OF ORDINARY AND PERFOBOND Y-SHAPED SHEAR CONNECTORS

Composite structures refer to two load carrying structural members that are integrally connected and deforming as a single unique unit using shear connectors. The use of shear connectors enhances the development of longitudinal shear forces at the steel-concrete interface. The objective of this research is to study the structural behavior of a proposed separated Y-shaped shear connector. The suggested investigated Y-shaped shear connector is intended to be an improvement to the structural response of the conventional perfobond shear connector. Accordingly, this paper carries out six push-out tests on the separated Y-shaped shear connector according to EC4. The experimental work is performed in the Reinforced Concrete and Heavy Structures Laboratory at the Structural Engineering Department, Tanta University, Egypt. The key parameters affecting the behavior of the shear connector in the current investigation are the height, the thickness and the Y-shaping of the shear connector. Also, the effect of hole existence is investigated. Other parameters such as the length of the connector, the concrete strength and the slab geometry are kept the same for all specimens. Based on the performed tests, the results show that the proposed separated Y-shaped shear connector has higher shear resistance than that of the conventionalperfobond shear connector. Also, the proposed connector shows better ductile behavior than the conventional perfobond connector. Moreover, results proved that increasing the connector thickness has a significant effect on the connector behaviour by increasing its shear resistance. Furthermore, as the height of the connector increases, the shear capacity increases. Finally, from the presented results it is clarified that the proposed separated Y-shaped connector is better and more economical than the conventional perfobond connector

Phylogenetic Diversity and Antimicrobial Activities of Culturable Endophytic Actinobacteria Isolated from Different Egyptian Marine Sponges and Soft Corals

A cultivation-based approach was employed to isolate and compare the endophytic culturable actinobacterial diversity associated with different Egyptian marine sponges and soft corals. A total of 13 culturable actinobacteria isolates were obtained, five of which isolated from different sponges, two (AE27 and AE32) and three (AE29, AE41 and AE46) were isolated from Haliclona sp. and Callyspongia sp. collected from Sharm El-Sheikh and Hurghada, Egypt, respectively. Eight were isolated from different five soft corals, out of them two (AE2 and AE19), two (AE3 and AE15), two (AE20 and AE23), one (AE35) and one (AE13) were isolated from Rhytisma sp., Xenia sp., Lobularia sp., and Dendronephthya sinaiensis (collected from Sharm El-Sheikh, Egypt) and the Dendronephthya hemprichi (collected from Hurghada, Egypt), respectively. The 16S rRNA genes of the 13 actinobacteria isolates were amplified and sequenced (GenBank Accession numbers JF292923 – JF292930 and JF319146 – JF319150). A BLAST analysis revealed that the 13 actinobacteria isolates belonged to three known families and genera. Six strains isolated from all sponges and soft corals belonged to the genus Streptomyces (AE15, AE19, AE20 and AE35, isolated from soft corals; Xenia sp., Rhytisma sp., Lobularia sp., and Dendronephthya sinaiensis as well as AE29 and AE41, isolated from sponges; Callyspongia sp., respectively). Six strains (AE2, AE3 and AE23, isolated from soft corals; Rhytisma sp., Xenia sp. and Lobularia sp. as well as AE27, AE32 and AE46, isolated from sponges; Haliclona sp. and Callyspongia sp., respectively) belonged to the genus Nocardiopsis. Only one isolate (AE13) derived from Dendronephthya hemprichi was belonged to the genus Pseudonocardia. The phylogenetic analysis revealed that four culturable actinobacteria strains (AE2, AE27, AE32 and AE46) were more distantly related to other previously published Nocardiopsis dassonvillei. Screening for antimicrobial activity revealed that out of the 13 culturable actinobacteria isolates, only five (AE15, AE19, AE20, AE29 and AE41) belonged to the genus Streptomyces have anticandida or anti-positive Gram bacteria activity

Effect of anatomical variability in brain on transcranial magnetic stimulation treatment

Transcranial Magnetic Stimulation is a non-invasive clinical therapy used to treat depression and migraine, and shows further promise as treatment for Parkinson’s disease, Alzheimer’s disease, and other neurological disorders. However, it is yet unclear as to how anatomical differences may affect stimulation from this treatment. We use finite element analysis to model and analyze the results of Transcranial Magnetic Stimulation in various head models.A number of heterogeneous head models have been developed using MRI data of real patients, including healthy individuals as well as patients of Parkinson’s disease. Simulations of Transcranial Magnetic Stimulation performed on 22 anatomically different models highlight the differences in induced stimulation. A standard Figure of 8 coil is used with frequency 2.5 kHz, placed 5 mm above the head. We compare cortical stimulation, volume of brain tissue stimulated, specificity, and maximum E-field induced in the brain for models ranging from ages 20 to 60. Results show that stimulation varies drastically between patients of the same age and health status depending upon brain-scalp distance, which is not necessarily a linear progression with age

Eugenia supra-axillaris Essential Oil and Its Nanoemulsion: Chemical Characterization, In Vivo Anti-Inflammatory, Analgesic, and Antipyretic Activities

The use of standard synthetic medications to treat inflammatory illnesses is associated with several negative effects. It has been shown that medicinal plants and their by-products are useful for safely treating inflammation. Herein, the essential oil of Eugenia supra-axillaris (family: Myrtaceae, ESA-EO) was isolated and further chemically characterized by GC-MS, and then, its nanoemulsion (ESA-EO-NE) was prepared. In addition, the anti-inflammation against the carrageenan-induced rats, the analgesic, and antipyretic activities of ESA-EO and ESA-EO-NE were evaluated in rats. Forty-three compounds were identified via GC-MS and categorized as mono- (61.38%) and sesquiterpenes (34.86%). d-limonene (32.82%), α-pinene (24.33%), germacrene-D (4.88%), α-humulene (4.73%), α-cadinol (3.39%), and trans-caryophyllene (3.15%) represented the main components. The administration of ES-EO and ES-EO-NE (50 and 100 mg/kg) demonstrated strong, dose-dependent inflammation inhibition capabilities in the model of rat paw edema, in comparison with both the reference drug and control. Reduced levels of malondialdehyde (MDA), increased levels of glutathione (GSH), and decreased levels of the proinflammatory cytokines (TNF-α), nitrosative (NO), and prostaglandin E2 (PGE2) in paw tissues all contributed to these substantial reductions in inflammation. Moreover, the oral administration of ESA-EO and ESA-EO-NE (50 and 100 mg/kg) exhibited potent analgesic and antipyretic activities in rats. Although the higher dose of ESA-EO and ESA-EO-NE (100 mg/kg) displayed delayed anti-inflammatory activity, they have long-lasting inflammation inhibition with fast onset and long-standing analgesic effects better than reference drugs. Furthermore, the most effective antipyretic efficacy was provided by ESA-EO-NE (100 mg/kg). These results provide insight into the possible therapeutic application of ESA-EO and its nanoemulsion against various inflammatory and painful illnesses as well as hyperthermia ailments

Order 1/N corrections to the time-dependent Hartree approximation for a system of N+1 oscillators

We solve numerically to order 1/N the time evolution of a quantum dynamical system of N oscillators of mass m coupled quadratically to a massless dynamic variable. We use Schwinger's closed time path (CTP) formalism to derive the equations. We compare two methods which differ by terms of order 1/N^2. The first method is a direct perturbation theory in 1/N using the path integral. The second solves exactly the theory defined by the effective action to order 1/N. We compare the results of both methods as a function of N. At N=1, where we expect the expansion to be quite innacurate, we compare our results to an exact numerical solution of the Schroedinger equation. In this case we find that when the two methods disagree they also diverge from the exact answer. We also find at N=1 that the 1/N corrected evolutions track the exact answer for the expectation values much longer than the mean field (N= \infty) result.Comment: 14 pages, 11 figures. Submitted to Phys. Rev.

Pulmonary delivery of vancomycin dry powder aerosol to intubated rabbits

TGX-221 is a potent, selective, and cell membrane permeable inhibitor of the PI3K p110β catalytic subunit. Recent studies showed that TGX-221 has anti-proliferative activity against PTEN-deficient tumor cell lines including prostate cancers. The objective of this study was to develop an encapsulation system for parenterally delivering TGX-221 to the target tissue through a prostate-specific membrane aptamer (PSMAa10) with little or no side effects. In this study, PEG-PCL micelles were formulated to encapsulate the drug, and a prodrug strategy was pursued to improve the stability of the carrier system. Fluorescence imaging studies demonstrated that the cellular uptake of both drug and nanoparticles were significantly improved by targeted micelles in a PSMA positive cell line. The area under the plasma concentration time curve of the micelle formulation in nude mice was 2.27-fold greater than the naked drug, and the drug clearance rate was 17.5-fold slower. These findings suggest a novel formulation approach for improving site-specific drug delivery of a molecular-targeted prostate cancer treatment

Osjetljiva spektrofotometrijska metoda za određivanje antagonista H2-receptora uz uporabu N-bromsukcinimida i p-aminofenola

A simple, accurate and sensitive spectrophotometric method for determination of H2-receptor antagonists: cimetidine (CIM), famotidine (FAM), nizatidine (NIZ), and ranitidine hydrochloride (RAN) has been full developed and validated The method was based on the reaction of these drugs with NBS and subsequent measurement of the excess N-bromosuccinimide by its reaction with p-aminophenol to give a violet colored product (max at 552 nm). Decrease in the absorption intensity (A) of the colored product, due to the presence of the drug, was correlated with its concentration in the sample solution. Different variables affecting the reaction were carefully studied and optimized. Under optimal conditions, linear relationships with good correlation coefficients (0.9988-0.9998) were found between A values and the corresponding concentrations of the drugs in a concentration range of 830, 622, 625, and 420 g mL1 for CIM, FAM, NIZ, and RAN, respectively. Limits of detection were 1.22, 1.01, 1.08, and 0.74 g mL1 for CIM, FAM, NIZ, and RAN, respectively. The method was validated in terms of accuracy, precision, ruggedness, and robustness; the results were satisfactory. The proposed method was successfully applied to the analysis of the above mentioned drugs in bulk substance and in pharmaceutical dosage forms; percent recoveries ranged from 98.5 0.9 to 102.4 0.8% without interference from the common excipients. The results obtained by the proposed method were comparable with those obtained by the official methods.Razvijena je i validirana ispravna, jednostavna i osjetljiva spektrofotometrijska metoda za određivanje antagonista H2-receptora: cimetidina (CIM), famotidina (FAM), nizatidina (NIZ) i ranitidin hidroklorida (RAN). Metoda se temelji na reakciji tih ljekovitih tvari s N-bromsukcinimidom (NBS). Višak N-bromsukcinimida određuje se nakon reakcije s p-aminofenolom s kojim daje ljubičasti produkt (max pri 552 nm). Smanjenje apsorpcijskog intenziteta (A) obojenog produkta, zbog prisutnosti ljekovite tvari korelirano je s njegovom koncentracijom u otopini uzorka. Proučavane su različite varijable koje utječu na reakciju. Linearno koncentracijsko područje za CIM, FAM, NIZ i RAN, s koeficijentom korelacije od 0,9988 do 0,9998, iznosi 830, 622, 625 odnosno 420 g mL1. Granice detekcije bile su 1,23, 1,02, 1,09 i 0,75 g mL1 za CIM, FAM, NIZ, odnosno RAN. Predložena metoda je uspješno primijenjena za analizu navedenih ljekovitih tvari i ljekovitih pripravaka. Nepreciznost od 0,7 do 1,2% i visoka ispravnost (analitički povrat između 98,5 i 102,4%), bez interferencije uobičajenih pomoćnih tvari, ukazuju na dobru analitičku metodu. Rezultati dobiveni predloženom metodom usporedivi su s rezultatima dobivenim službenom metodom

Adjacent thoracic lymph node metastases originating from two separate primary cancers: case report

Reported is an unusual case of adjacent thoracic lymph nodes demonstrating metastases from two different primary malignancies. A 51 year-old woman with a previous history of bilateral breast cancer underwent a radical gastro-oesophagectomy for adenocarcinoma of the lower third of the oesophagus. The resection specimen demonstrated breast and oesophageal metastases in adjacent thoracic lymph nodes. Mechanisms for this phenomenon, including the known local immune suppression on lymphoid cells by oesophageal carcinoma cells, are discussed