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.
Odontogenic cysts and tumors often form hard and soft structures that resemble odontogenesis. It is well known that amyloid is produced in Pindborg tumors; however, it is still debatable whether it is also formed in other odontogenic tumors and cysts. This study aimed to detect the presence of amyloid in different odontogenic cysts and tumors in correlation to matrix proteins secreted during enamel formation; namely amelogenin and odontogenic ameloblast‐associated protein.
This study included formalin fixed paraffin embedded tissue blocks of 106 different types of odontogenic
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Escherichia coli (E. coli) is a frequent gram-negative bacterium that causes nosocomial infections, affecting more than 100 million patients annually worldwide. Bacterial lipopolysaccharide (LPS) from E. coli binds to toll-like receptor 4 (TLR4) and its co-receptor’s cluster of differentiation protein 14 (CD14) and myeloid differentiation factor 2 (MD2), collectively known as the LPS receptor complex. LPCAT2 participates in lipid-raft assembly by phospholipid remodelling. Previous research has proven that LPCAT2 co-localises in lipid rafts with TLR4 and regulates macrophage inflammatory response. However, no published evidence exists of the influence of LPCAT2 on the gene expression of the LPS receptor complex induced by smooth or rough b
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Colorectal cancer (CRC) is the most common gastrointestinal malignancy and one of the top ten common cancers worldwide with approximately 2 million cases. There are multiple risk factors that could lead to CRC emergence; of which are genetic polymorphisms. Excision repair cross-complementing group 2 (ERCC2) gene encodes for ERCC2 enzyme which plays a crucial role in maintaining genomic integrity by removing DNA adducts. Several studies suggested that there could be a link between genetic polymorphisms of ERCC2 gene and the risk of CRC development. Hence the present study aims to validate the relationship between the following ERCC2 single nucleotide polymorphisms (rs13181, rs149943175, rs530662943, and rs1799790) and CRC susceptibility. A t
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Psoriasis is one of the skin’s chronic inflammatory diseases. Psoriasis etiology isn’t exactly known. Recently, it has been suggested that the imbalances in oxidant-antioxidant status happening because of the increase in reactive oxygen species production (ROS) and/or deficient function regarding the antioxidant system might be included in psoriasis pathogenesis. The major goal is to evaluate the antioxidant defense status in patients experiencing psoriasis and oxidative stresses represented by malondialdehyde (MDA) level and evaluate liver enzymes and vitamin D3. There are some tests of biochemical parameters and vitamins (GSH, MDA, VitD3, SOD, GPx, CAT, AST, ALT, and ALP) are conducted on 35 patients experiencing psoriasi
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Rheumatoid arthritis (RA) is a chronic inflammatory polyarithritic disease
associated with remission and exacerbation with different immunological
features.Rheumatoid factor(RF) screening test was used quantitatively and qualitatively
using an enzyme immunoassay (EIA), RF-isotypes (RF-IgG, RF-IgM, RF-IgA) ,
Interleukin-18 (IL-18) and Interleukin – 18 binding protein (IL-18BP) were detected
quantitatively usingenzyme linked immunosorbent assay(ELISA). Results indicated a
51% positivity in RF among RA patients and a prevalence of the RF-isotype (RF-IgM)
with the highest level at (41.6±16.3 U/ml) (p < 0.05) among other RF-isotypes at a
percentage of 85.5% , results also indicatedan elevated serum level of IL-18
This study was performed at Nuclear Radiation Hospital in Baghdad for the period from
January 2011 to May 2011. 44 Blood samples were collected from patients suffered lung and
bladder cancer and 24 samples as healthy control individuals.
Routine liver functions tests were studied by measuring S.GPT, S.GOT and Kidney
function was evaluated by estimation of blood urea and creatinine in serum samples of
individuals studied.
It was observed that the incidence of lung and bladder cancer was higher in males than
females patients ( male 81.82 %, 72.73%, female18 .18%, 27.27% respectively).
Insignificant difference was noted among age of lung and bladder cancer patients
compared with control group. The results
Abstract:
This research aims to identify the impact of the Layout Ghazi al-Hariri hospital for surgery specialist on customer satisfaction (patients) using the model (Servicescape), the problem of the research represented in the extent to which the hospital management design of the service and Layout hospital aesthetic and functional aspects that fit patients for therapeutic and nursing services , and used the developer scale by (Miles et al., 2012) for data collection, which includes the independent variable in (17) items distributed in three dimensions (Facility aesthetics , hospital cleanliness, and the Layout accessibility ) The dependent variable is the satisfaction of customers (pat
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Objective: To assess the nutritional status of hemodialysis patients.
Methodology: A descriptive quantitative cross sectional study was effectuated in hemodialysis centers from
February 2011 to September 2011. A purposive "non-probability" sample of (70) male and female hemodialysis
patients in al-Najaf al-Ashraf Governorate from those who have spent more than six months on maintenance
hemodialysis schedule. Data collected through using of a well-designed questionnaire consist of five parts, part
one consists of sociodemographic contain (9) items, and part two consists of medical data contain (8) items, and
part three consists of health and nutrition behavior contain (12) items plus (8) items of anthropometric
measur
Objective: The aim of the study was to estimate the action atorvastatin(20mg/day) on bone biochemical markers dyslipidemic men. Methodology: This study was conducted between May 2015 and November 2015 in Al-Basrah General hospital in Basra, Iraq, to evaluate important role of atorvastatin (20mg/day)(Lipitor® Pfizer Pharma GmbH.Germany) on bone biochemical markers. Thirty men patients who had been admitted for a variety of medical problems included in the study. All the patients had previously been diagnosed with Dyslipidemia by specialist physician in internal medicine and all patients age below 55 yea
The major function of the kidney is the filtration and secretion of the final products of metabolism and the excess of electrolytes. The term kidney failure denotes inability of the kidneys to perform excretory function leading to retention of nitrogenous waste products from the blood. Biosensor are most accurate, with a rapid diagnosis ,more costly method than the traditional method to avoid any biological changes in blood sample that lead to changes optical characteristic (refractive index and absorption) of blood sample. The current study was designed to single mode more Sensitivity than multi mode for Biomarkers were recorded for Albumin 5447.06, 5193.93 and Urea sample 2623.14, 1998.44 in sm and mm respectively .
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