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.
Background : Xanthomatosis is a disease in which large tendon tumors can occur, especially in the Achilles tendon. This disease is a rare interesting orthopaedic condition.
Case Report:A case of a twenty eight year old girl patient with giant bilateral Achilles tendon xanthomas in which both tumors were resected.
There was no ulceration on the both sides. The patient was treated by total resection of the lesion and reconstruction using tendon transfer of the Peroneus brevis and Flexor hallusis longus. Postoperative treatment consisted of six weeks lower leg cast immobilization followed by partial weight bearing. After 4 months the patient was able to walk pain free without any difficultie
... Show MoreNew series of metal ions complexes have been prepared from the new ligand 1,5- Dimethyl-4- (5-oxohexan-2- ylideneamino) -2-phenyl- 1H-pyrazol-3 (2H)-one derived from 2,5-hexandione and 4-aminophenazone. Then, its V(IV), Ni(II), Cu(II), Pd(II), Re(V) and Pt(IV) complexes prepared. The compounds have been characterized by FT-IR, UV-Vis, mass and 1H and 13C-NMR spectra, TGA curve, magnetic moment, elemental microanalyses (C.H.N.O.), chloride containing, Atomic absorption and molar conductance. Hyper Chem-8 program has been used to predict structural geometries of compounds in gas phase, the heat of formation, (binding, total and electronic energy) and dipole moment at 298 K.
In the beta decay process, a neutron converts into a proton, or vice versa, so the atom in this process changes to a more stable isobar. Bethe-Weizsäcker used a quasi-experimental formula in the present study to find the most stable isobar for isobaric groups of mass nuclides (A=165-175). In a group of isobars, there are two methods of calculating the most stable isobar. The most stable isobar represents the lowest parabola value by calculating the binding energy value (B.E) for each nuclide in this family, and then drawing these binding energy values as a function of the atomic number (Z) in order to obtain the mass parabolas, the second method is by calculating the atomic number value of the most stable isobar (ZA). The results show
... Show MoreOne major problem facing some environments, such as insurance companies and government institutions, is when a massive amount of documents has to be processed every day. Thus, an automatic stamp recognition system is necessary. The extraction and recognition of a general stamp is not a simple task because it may have various shapes, sizes, backgrounds, patterns, and colors. Moreover, the stamp can be printed on documents with bad quality and rotation with various angles. Our proposed method presents a new approach for the preprocessing and recognition of color stamp images. It consists of four stages, which are stamp extraction, preprocessing, feature extraction, and matching. Stamp extraction is achieved to isol
... Show MoreIn the last few years, fiber-coupled diode lasers have shown massive applications in many fields of communication and scientific research. Particularly, the pumping of solid-state lasers is a key application for more powerful diode lasers enabling good solutions in various laser micro methods like metal cutting, sintering, structuring as well as drilling. In this work, a simple beam shaping method is demonstrated for coupling a high-power semiconductor laser diode into multi-mode fiber optic using optical lenses. The optical lenses as beam transformation components are utilized to reshape the asymmetrical irradiation of the diode laser bar and to circularize the laser beam. Using this simple method, compact, high-output-power, and high-b
... Show MoreSemiconductor quantum dots (QDs) have attracted tremendous attentions for their unique characteristics for solid-state lighting and thin-film display applications. A simple chemical method was used to synthesis quantum dots (QDs) of zinc sulfide (ZnS) with low cost. The XRD) shows cubic phase of the prepared ZnS with an average particles size of (3-29) nm. In UV-Vis. spectra observed a large blue shift over 38 nm. The band gaps energy (Eg) was 3.8 eV and 3.37eV from the absorption and photoluminescence (PL) respectively which larger than the Eg for bulk. QDs-LED hybrid devices were fabricated using ITO/ PEDOT: PSS/ Poly-TPD/ ZnS-QDs/ with different electron transport layers and cathode of LiF/Al layers. The EL spectrum reveals a bro
... Show MoreBackground. Aneurysms of the distal anterior cerebral artery (DACA) are uncommon; they often form near the pericallosal-callosomarginal junction and are typically small. To our knowledge, giant DACA aneurysms developing from the more distant parts of the anterior cerebral artery (ACA), A4-5, have been described only once in the literature. Case description. A 66-year-old gentleman reported with a brief loss of consciousness followed by weakness in his right lower leg. The patient was admitted with a Glasgow Coma Score (GCS) of 15. A computed tomography (CT) scan of the head revealed a left hyperdense mass in the frontal parasagittal supracallosal region. Contrast MRI revealed a heterogeneously enhancing mass measuring 35x30x25 mm. C
... Show MoreBackground: Removing dental plaque is important to maintain a good oral hygiene and prevent periodontal disease; this could not be accomplished by the use of toothbrush alone, it needs the help of interdental aids or intra-oral irrigator devices. The aim of this study was to compare the effect of using Waterpik flosser as adjunct to tooth brushing than using the dental floss with the brushing. Materials and methods: A single blind, six weeks study included 45 subjects divided into three groups of 15 subjects at each group. Group B (brushing) was instructed to use the toothbrush only, group BF (brushing & flossing) was instructed to use dental floss and tooth brushing while group BW (brushing and Waterpik flosser) was instructed to use Water
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