This study was aimed to detect and identify genetic mutations in γ-aminobutyric acid receptor β3 subunit encoding gene (GABRB3) and its association with autism spectrum disorders. Forty autistic patients and 25 non-autistic as control group (5 unaffected sibling and 20 unrelated) with age range from 3 – 10 years were included in this study. Chromosomal DNA was extracted from blood samples followed by polymerase chain reaction (PCR) amplification of two targeted regions which include: (exon2-intron2-exon3) region and (exon 6) region of GABRB3 for subsequent DNA sequencing. Identical bands related to the targeted regions were present in all samples. A sample of PCR products of patients and controls were sequenced. Sequencing results revealed the presence of four different single nucleotide polymorphism (SNPs) in four autistic patients (one SNP in exon2, two SNPs in intron 1 and one SNP in the beginning of intron 3) while four different autistic samples and three from control group had no mutations along this region. Exon 6 showed 100 % sequence identity in all samples (seven autistic and three from control group). The translation of nucleotides sequences into amino acid sequence revealed that the SNP in exon 2 caused a change of amino acid in the polypeptide sequence by changing the codon (AGA) which codes for arginine to (AAA) which codes for lysine. The online software tool, RaptorX was used for the prediction of the three dimensional structure of the polypeptides in which exon 2 carrying one SNP (30 a.a.) showed that 5 (16%) positions predicted as disordered, while the structure prediction of polypeptide translated from exon 3 was not obtained due to its small length (22 a.a.). Structure prediction of polypeptide of exon 6 (46 a.a.) showed that (0%) positions predicted as disordered, considering its lack of mutations. These results suggest the association of the detected SNPs with autism, especially the SNP located in exon 2 considering that it changed the polypeptide three dimensional structure, thus it could possibly alter its function. All SNPs are reported for the first time in this study except the one in intron 3 (rs755863611) which was previously reported.
In this paper We introduce some new types of almost bi-periodic points in topological bitransfprmation groups and thier effects on some types of minimaliy in topological dynamics
The study of the dynamic behavior of packed distillation column was studied by frequency response analysis using Matlab program. A packed distillation column (80 mm diameter) (2000 mm height) filled with glass packing (Raschig Rings 10mm), packing height (1500 mm) has been modified for separation of methanol-water mixture (60 vol%). The column dynamic behavior was studied experimentally under different step changes in, feed rate (±30%), reflux rate (±22%), and reboiler heat duty (±150%), the top and bottom concentration of methanol were measured. A frequency response analysis for the above step response was carried out using Bode diagram, the log modulus and the phase angle were used to analyze the process model. A Matlab progra
... Show MorePlace is considered one of the important artistic elements in the movie through which the events occur in different arts and literatures and with its absence there isn’t any that can initiate events. Place is important for the things that we recognize, and the first fact in cinema is the place which can't be dispensed with on the level of the film or scene or cinematic shot that can't be emptied from its spatial content. The characters are always there in a place occupying some space of it, despite that it is not merely a container for the event cinematically. The researcher views the importance of discovering and observing them in this research which is divided into four chapters as follows: (theoretical framework) which includes the
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This study aims to identify maternal death cases caused by Coronavirus infection 2019 pneumonia, including disease progression, fetal consequences, and the fatality cause.
Patients and methodology: A retrospective case collection of Iraqi pregnant women in their second and third trimesters diagnosed with COVID-19 pneumonia and died due to it.
The four cases were all of a young age, had a brief complaint period, and had no comorbidities. Fever, dyspnea, and fatigue were the most common symptoms. Hypoxia was present in all cases and was the cause of mortality in three cases, with thromboembolism being a potential cause in the fourth. Prelabour membrane breakup, fetal growth restriction, and fetal death are al
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The aim of this study is to look at the potential of a local sustainable energy network in a pre-existing context to develop a novel design beneficial to the environment. Nowadays, the concept of smart cities is still in the developmental phase/stage andwe are currently residing in a transitional period, therefore it is very important to discover new solutions that show direct benefits the people may get from transforming their city from a traditional to a smart city. Using experience and knowledge of successful projects in various European and non-European smart cities, this study attempts to demonstrate the practical potential of gradually moving existing cities to t
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Background:To evaluate the accuracy of serum uric acid to predict maternal and fetal complications in women with pre- eclampsia.
Design: Prospective study. Setting: Tikrit Teaching Hospital.
Subject and Methods: Fifty normotensive and forty-three pre-eclamptic pregnant women at (20-24) weeks of gestation were the study subject, serum concentrations of uric acid
were measured and examine the correlations between serum uric acid level with fetal and maternal complications.
Result: Serum concentration of uric acid in pre-eclamptic women were significantly higher than in gestational age match normotensive pregnant women, and women with pre-eclampsia
and elevated uric acid concentration at increased risk of
Poor impurity in the right of the patient and the elderly
Statistical fluctuations of nuclear energy spectra for the isobar A = 68 were examined by means of the random matrix theory together with the nuclear shell model. The isobar A = 68 nuclei are suggested to consist of an inert core of 56Ni with 12 nucleons in f5p-space (2p3/2, 1f5/2 and 2p1/2 orbitals). The nuclear excitation energies, required by this work, were obtained through performing f5p-shell model calculations using the isospin formalism f5pvh interaction with realistic single particle energies. All calculations of the present study were conducted using the OXBASH code. The calculated level densities were found to have a Gaussian shape. The distributions of level spacing P(s) an
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The present study explores numerically the energy storage and energy regeneration during Melting and Solidification processes in Phase Change Materials (PCM) used in Latent Heat Thermal Energy Storage (LHTES) systems. Transient two-dimensional (2-D) conduction heat transfer equations with phase change have been solved utilizing the Explicit Finite Difference Method (FDM) and Grid Generation technique. A Fortran computer program was built to solve the problem. The study included four different Paraffin's. The effects of container geometrical shape, which included cylindrical and square sections of the same volume and heat transfer area, the container volume or mass of PCM, variation of mass flow rate of heat transfer fluid (HTF), and temp
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This study aims to evaluate the performance of the sewage treatment plant in Al-Diwaniya, one of cities in the southern part in Iraq. This evaluation could be used to facilitate effluent quality assessment or optimal process control of the plant. The influent reaching the plant is considered a medium to strong in strength with BOD5/COD ratio in the range 0.23 and 0.69 which can be considered an easily degradable sewage by the biological processes performed by the activated sludge unit. The quality of the effluent was found to be higher than the Iraqi standards for disposal to water bodies. The BOD5/COD ratios of the treated sewage varied over a wide range as low of 0.13 to 1.48 indicating operational problems in the plant. Regression ana
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