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: Diabetic patients have been reported to be more susceptible to gingivitis and periodontitis than healthy subjects. Many intracellular enzymes like (alkaline phosphatase- (ALP), aspartate aminotransferase- (AST) and alanine aminotransferase- (ALT) that are released outside cells into the gingival crevicular fluid (GCF) and saliva after destruction of periodontal tissue during periodontitis. This study was conducted to determine the periodontal health status and the levels of salivary enzymes (ALP, AST and ALT) of the study and control groups and to correlate the levels of these enzymes with clinical periodontal parameters in each study group. Subjects, Materials and Methods: One hundred subjects were enrolled in the study, with a
... Show MoreFocal adhesion kinase (FAK), ephrin receptor type A4 (EphA4), and adiponectin (ADPN) are important indicators in inflammation, tumor growth, migration, and angiogenesis in some cancers. The predictive impact of their concentrations in acute myeloid leukemia (AML) patients to be identified remains. The research sought to explore the effect of FAK, EphA4, and ADPN as prognostic biomarkers, and their influence on patient survival, and to look for any potential correlation between their levels with hematological parameters in AML patients.
this study deals with effect of diabetes and hypertension on quality of life
The present study was included a measurements of fasting serum glucose, total protein, potassium, and calcium levels in the sera of 25 diabetic male patients suffer from chronic renal failure; their ages range were (32-75) and compared them with 25 healthy males as control group. The aim of this study was to study the effects of antidiabetic drugs on some biochemical parameters such as fasting serum glucose, serum total protein, serum potassium and calcium. The current results demonstrated a hyperkalemia in patients and this increasing of potassium is significantly (p = 0.03), but calcium level showed no significant variations ( p>0.05 ), and serum total protein was significantly decreased in patients as compared to t
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Urotensin-II (UII), a pluripotent vasoactive cyclic peptide, exhibits the progression of cardiovascular diseases and the glucose metabolic disorder of insulin resistance. Type 2 Diabetes Mellitus (T2DM) is entirely associated with insulin resistance. This study aimed to demonstrate the association of UII with insulin resistance in diabetic and non-diabetic subjects. A total of 73 male and female subjects aged 40-60 years were recruited in this case-control study. They included 35 non- diabetic subjects with a body mass index of (BMI) ≤ 25 and 38 patients with Diabetes Mellitus and BMI ≥ 25. UII levels were assessed beside other vasoactive and clinical parameters. The results re
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Gastrointestinal diseases and especially chronic gastritis are mainly induced by Helicobacter pylori infection, and provides the basis for gastric carcinogenesis and colorectal cancer. The study involved the detection of serum anti-H. pylori IgG and IgA antibody of and some serum biomarkers ;CEA and CA19-9 in patients with gastrointestinal diseases. Fifty eight serum samples were collected from 25 males and 33 females .Peripheral venous blood was collected from each patient and sera obtained by centrifugation. Serum anti-H. pylori IgG and IgA ,serum CEA and CA19-9 were evaluated by enzyme-linked immunoadsorbent assays (ELISA).Forty eight serum samples were positive for IgG (82.7% ) divided int
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Background: Type 2 diabetes mellitus (T2DM) is considered a global disease as it affects over 150 million people worldwide, a number that is supposed to be doubled by 2025. High glucose levels, in vitro, appear to raise the extent of LDL oxidation, and glycated LDL is more prone to oxidative modification.Objective: To investigate the relationship between serum level of vitamin E and lipid profile in patients with type II DM.Methods: This study involved 28 patients suffering from type II DM diagnosed 1-4 years ago and with age ranged from 17 -60 years old, with different residence around Basra ; In addition to 56 apparently healthy persons matched in age and sex to the patients as a control group. The medical histories were taken and Gene
... Show MoreOsteoporosis is a common complication of ankylosing spondylitis (AS), and it is related to the high levels of biochemical markers such as tartrate-resistant acid phosphates (TRACP)-5b and other proinflammatory cytokines. In early AS, osteoporosis may appear due to the action proinflammatory cytokines, however spinal osteoporosis commonly observed in those patients with severe AS of long duration but it can occur as a result of ankylosis and lack of movement. Apelin is a new adipokine that has a negative impact on bone formation and can act as an anti-anabolic agent. The aim of this study is to evaluate serum (apelin and TRACP-5b) levels in ankylosing spondylitis (AS) male patients with and without osteoporosis and look for the relation b
... Show MoreFree radicals and oxidative damage caused by them have being suggested to be involved in the pathogenesis of migraine. These may result from distorted equilibrium of pro-oxidant/anti-oxidant system that continuously generates and detoxifies oxidants during normal aerobic metabolism. Escape of such system from equilibrium leads to damage of cellular elements with the depletion of cellular stores of anti-oxidants material such as glutathione and vitamin E. Therefore, free radical scavengers (vitamin E or melatonin) seems to be of potential benefit as prophylactic anti-migraine therapy by neutralizing free radicals overproduction and possibly preventing formation of highly toxic intermediates (such as nitric oxide). In addition of being pow
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