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 expression of MUC5AC has been associated with the loss of the differentiation, TNM system, and nodal metastasis, in many cancers including gastric carcinoma (GC).Objective: To evaluate whether the MUC5AC could be used as a predictor in patients with GC and to assess the correlation between the expression of MUC5AC& the clinicpathological parameters as age, sex, histopathological subtypes, grade and stage of the tumor. This is a retrospective study conducted on 60 randomly selected patients (30 normal vs 30 GC), at the Pathology Department of the Gastroenterology and Hepatology Teaching Hospital&some private laboratories. They were collected and diagnosed during the period 2014-2018. Histological sections were stained wi
... Show MoreFor the period from February 2014 till May 2014, one hundred and nine lactose fermenter clinical isolates from different samples (urine, stool, wound swab, blood, and sputum) were collected from Alyarmok, Alkadimiya, and Baghdad teaching hospitals at Baghdad governorate. Identification of all Klebsiella pneumoniae isolates were carried out depending on macroscopic, microscopic characterizations, conventional biochemical tests, and Api 20E system. Fifty-three (48.62%) isolates represented K. pneumoniae; however, 51.73% represented other bacteria. Susceptibility test was achieved to all fifty-three K. pneumoniae isolates using five antibiotic disks (Ceftazidime, Ceftriaxone, Cefotaxime, Imipenem, and Meropenem). Most of tested isolates (90
... Show MoreThis study was aimed to determine the mutations and single nucleotide polymorphisms (SNPs) in exon 3 and 7 of estrogen receptor beta (ESR2) gene in women with breast cancer from Iraq. Different samples (blood, fresh tissue with blood from same patient, and formalin fixed paraffin embedded, FFPE) were collected from women with breast cancer. Molecular analysis exon 3 and 7 in ESR2 has been studied by using PCR. It was found exon 3 and 7 in ESR2 were revealed as a single band with size 151 and 157 bp, respectively. There was no SNP in exon 3 has been identified. While three novel polymorphisms (ACT, AGG and GCA) were detected in exon 7, the type of those polymorphisms deletion for ACT and AGG while substitution polymorphism for GCA. From this
... Show More
One hundred thirty four urine samples were collected from diabetic patients during the period from March –November -2014. From these samples there were 62.7% positive samples, women represented 45.3% and men represented 54.7% , some of them were a symptomatic as women represented 60.5% and men represented 58.7% and some were with clinical symptoms with or without a history of UTI. Hypertension diabetic women represented 45% and men represented 26% .Men suffering from prostate enlargement were represented 35% from the total diabetics .The E.coli isolates were represented 28.6% from the total cases ,Klebsiella spp isolates represented 20%, S. aureus isolates represented 16.7%,P
... Show MoreBack ground: Diabetic nephropathy is rapidly becoming the leading cause of end-stage renal disease (ESRD). The onset and course of DN can be ameliorated to a very significant degree if intervention institutes at a point very early in the course of the development of this complication.
Objective: The aim of this study was to characterize risk factors associated with nephropathy in type I diabetes and construct a module for early prediction of diabetic nephropathy (DN) by analyzing their risk factors.
Methods: Case control design of 400 patients with type I diabetes mellitus (IDDM), aged 19-45 years. The cases were 200 diabetic patients with overt protein urea while the controls were 200 diabetic patients with no protein urea or micr
ABSTRACTBackground Subclinical hypothyroidism is mild thyroid hormone deficiency, defined by elevation of serum thyroid-stimulating hormone concentration despite a normal free T3, free T4 level, can be distinguished by clinical and circumstantial observations from other conditions that cause this constellation of laboratory findings. The aim is to find the prevalence, anthropologic, and metabolic changes associate subclinical hypothyroidism(SH) in adult patients presented to obesity research and therapy unit (ORTU Objective: To find the prevalence of subclinical hypothyroidism (SH) in adult obese patients presented to obesity research and therapy unit (ORTU) in AL-Kindy College of medicine and to describe the anthropologic and metabolic
... Show MoreThis study was aimed to investigate the association between thyroid disorder and Helicobacter pylori infection in 122 patients (100 females and 22 males )and for comparison, 60 healthy individuals (31females and 29 males),who had no thyroid disorder, were also included in the study. Blood samples were collected from both patients and the healthier individuals. Enzyme Linked Fluorescent Assay (ELFA) technique through using Vitek Immuno Diagnostic Assay System (VIDAS) was applied to measure levels of the thyroid hormones (tri-iodothyronine T3, tetra-iodothyroxine T4) and thyroid stimulating hormone (TSH). From the results obtained, patients were classified into three groups: 40 were
... Show More
Background: osteoporosis is characterized by a reduction in bone mineral density, skeletal microstructure breakdown, increased bone fragility, and fracture susceptibility. Osteopenia is the preceding step to osteoporosis because it causes a decrease in bone mass, osteoporosis reduces a person's quality of life. Periostin (encoded by Postn), its name is derived from the fact that it was first detected in periosteal osteocytes and osteoblasts. Periostin deficiency has been linked to osteoporosis and weak bones. Study objectives: The purpose of this study was to determine periostin levels in serum of Iraqi patients with osteoporosis and osteopenia, and it is also possible to consider periostin as a diagnostic factor to follow the progression o
... Show MoreAbstract: Lymphoproliferative Disorders (LPDs) are a group of neoplasms affecting various cells within lymphoid system. Each type has different treatment a..70619
(1)