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.
The mechanical function of the heart is governed by the contractile properties of the cells, the mechanical stiffness of the muscle and connective tissue, and pressure and volume loading conditions on the organ. Although ventricular pressures and volumes are available for assessing the global pumping performance of the heart, the distribution of stress and strain that characterize regional ventricular function and change in cell biology must be known. The mechanics of the equatorial region of the left, ventricle was modeled by a thick-walled cylinder. The tangential (circumferential) stress, radial stress and longitudinal stress in the wall of the heart have been calculated. There are also significant torsional shear in the wall during b
... Show MoreObjectives: This study aims to broaden our knowledge of the role of eDNA in bacterial biofilms and antibiotic-resistance gene transfer among isolates. Methods: Staphylococcus aureus, E. coli, and Pseudomonas aeruginosa were isolated from different non-repeated 170 specimens. The bacterial isolates were identified using morphological and molecular methods. Different concentrations of genomic DNA were tested for their potential role in biofilms formed by study isolates employing microtiter plate assay. Ciprofloxacin resistance was identified by detecting a mutation in gyrA and parC. Results: The biofilm intensity significantly decreased (P < 0.05) concerning S. aureus isolates and insignificantly (P > 0.05) concernin
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Andalusian women enjoyed much historical news in the fluorescence of Andalusia, describing it as beautiful and good cohabitation, as the men were involved in conquests, including those who were wives of the caliphs, including scientists, singers, and adept writers Hassan and tongue, in addition to the acquisition of masters in slave markets in Cordoba, Seville and many cities, In addition, Andalusian women enjoy freedom in their relationship with men and have been reflected in the historical fluorescence of Andalusia, such as the book of the history of Ibn Abdul Malik bin Habib al-Alberi (d. And the collar of the dove repented in intimacy and thousands of Ibn Hazm al-Qurtubi (d. 456 AH / 1065 CE), the book of Hilla al-Sayra of Ibn al-Wel
... Show MoreBackground: Obesity is a public health concern worldwide associated with significant health risks and comorbid conditions. Obesity might be a strong factor that can induce left ventricular systolic dysfunction and eventually cause heart failure independent to coronary artery disease or other morbidities. In uncomplicated obese subjects, diastolic dysfunction is caused by hemodynamic and metabolic factors.
Objectives: To assess the left ventricular (systolic and diastolic) function in a sample of overweight and obese subjects using different Echocardiographic tools and exploring the percentage and type of diastolic dysfunction in those people.
Subjects and methods: one hundred seven (107) normal adult males subjects with a mean age
Background: CT (computed tomography) is one of the first noninvasive imaging techniques in diagnosis of intra-axial posterior fossa tumors because it can accurately demonstrate, localize and characterize brain tumors, and can provide important information about the anatomic location, size, shape of the lesions and their mass effect on adjacent structures.
Objectives: To evaluate multi detectors CT characteristics of intra axial posterior fossa tumors and correlation of the CT characteristics of intra- axial posterior fossa tumors with the histopathological findings.
Patients & Methods: This is a cross sectional study including 26 patients with intra-axial posterior fossa tumors,15 males &11 females ,three cases were exclude
Background: Excessive crying in early
infancy is a common condition that causes a
great deal of concern to the parents and
physician.
Objective: The aim of this study is to find
the underlying etiology of excessive crying in
infancy and to determine how the history,
physical examination, and laboratory
investigations contribute to the final diagnosis.
Method: A prospective study done on 150
afebrile infants less than 4 months of age
visited Al-Elwia hospital for children
complaining of excessive crying of more than
two hours.
The study done over a one year period from
the first of January 2009 to the end of
December 2009.
All febrile infants and those with acute illness
preceding the
The protozoan parasite Entamoeba histolytica is a causative agent of amoebiasis, where it causes millions of cases of dysentery and liver abscess each year. Metronidazole is a drug of choice against amoebiasis. The drug is a choice because of its efficacy and low cost, but at the same time it causes several adverse side effects; therefore, it is important to find effective medications to treat amoebiasis without any complications or any side effects. The aim of this study is to evaluate the effectiveness of different concentrations (50, 75 and 100 µg/ml) of silver nanoparticle (AgNPs) against trophozoites stages of E. histolytica in vitro. The results showed a significant decrease (p ? 0.05) in numbers of trophozoites stages after treated
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The fish assemblage in the East Hammar marsh was studied during December 2009 to May 2010. The fish fauna of the marsh consisted of 17 native, 23 marine (49%) and seven alien species. The dominant species were Liza abu (14.6%), Carassius auratus (13.4%) and Thryssa mystax (11.2%). The resident species formed 44.7%, occasional species 36.1% and seasonal species 19.2% of the total number of fish species. Fish species diversity index ranged from 1.28 to 2.61, richness from 1.98 to 4.50 and evenness from 0.45 to 0.78. Salinity ranged from 1.45 to 7.74‰. The increase in the proportion of marine species (49%) in the fish assemblage due to marine waters progress from Arabian Gulf had an impact on the values of ecological indices and the
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Information systems and data exchange between government institutions are growing rapidly around the world, and with it, the threats to information within government departments are growing. In recent years, research into the development and construction of secure information systems in government institutions seems to be very effective. Based on information system principles, this study proposes a model for providing and evaluating security for all of the departments of government institutions. The requirements of any information system begin with the organization's surroundings and objectives. Most prior techniques did not take into account the organizational component on which the information system runs, despite the relevance of
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(2)
Iraq economy suffered, nor , still many difficulties and problems , including oil derivatives crisis that emerged in 2004 and was the most prominent features of the inability of local production to meet the needs of the increasing growth of consumption, the crisis has cast a shadow on the growth of national in general, and citizen living in particular. Therefore, the real test of crisis and challenge to the capacity of government agencies to manage the crisis and control and reduce its harmful effects, which disappear in a region or sector, even begin to appear in another, given the multiplicity and complexity of third-party solution for remedying the negative consequences of deliberate.