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: Insulin resistance is present in 50% or more of patients with primary hypothyroidism. Metformin can decrease TSH levels in these patients by a complex matter, this can be of great help in clinical practice.
Objective: This study was designed to evaluate the effect of metformin in reducing TSH levels in patients with primary hypothyroidism.
Methods: Hundred patients with primary hypothyroidism, 82 females, 18 males were included in this study, everyone was followed up for two months after adding metformin 850 mg twice daily in addition to thyroxin.
Results: 36 patients (36%) have a normal baseline TSH and no change after 2 months, 64 pa
... Show More
A ventricular septal defect (VSD) is defined as a communication between the left and right ventricles or between the left ventricle and the right atrium. VSDs are amongst the most common abnormalities of the heart. They can be present in isolation or in association with other congenital cardiac abnormalities. This is study done with the aim to evaluate the types, size, associated CHD with ventricular septal defect in children and adolescent in two cardiac centers (Medical City Complex cardiac clinics, Ibn Al Nafaes teaching hospital) in Baghdad - Iraq
The current study was designed to investigate the impact of the missense Single Nucleotide Polymorphism (SNP), Asn291Ser (c.872A>G: rs12470652), of LHR gene (Luteinizing hormone receptor gene) in peripheral blood samples of Iraqi infertile women diagnosed with premature ovarian failure (POF) and normosmic idiopathic hypogonadotropic hypogonadism(niHH, patients with normal sense of smell). Following the hormonal analysis, fifty women diagnosed with premature ovarian failure and fifty women diagnosed with normosmic idiopathic hypogonadotropic hypogonadism were included as patient groups, while fifty healthy fertile women were enrolled as a control group. The blood samples were obtained from patient and control groups at Kamal Al-Samarra
... Show More
(3)
(1)
The current study was carried out to explore gene expression of the LTB4R gene with the development of chronic myeloid leukemia (CML) in Iraqi patients. The differences in the expression of this gene between patients and healthy controls were studied. The correlation of gender and age with CML patients compared with controls was included as well as the correlation of gene expression folding 2-ΔΔCt of LTB4R with clinical parameters (WBC, RBC, haemoglobin, platelets, and BCR-ABL gene). Results revealed significant increases in the mean of gene expression level (ΔCt) of patient groups compared to the corresponding ΔCt means in the healthy control group, the gene expression folding (2-∆∆Ct) of the L
... Show More
(2)
(3)
Background: Human leukocyte antigen-G (HLA-G)and Toll-like receptor-9 (TLR-9)play a role in the regulation of autoimmune diseases and inflammatory processes. Aim of the study: To detect the HLA-G + 3142G > C gene polymorphism that associated with the susceptibility to SLE patients and associated with Hepatitis B infection and TLR-9 serum level. Patients and methods: This study was done on 75 SLE patients and 75 healthy control groups. Genotyping of HLA-G + 3142G > C were detected by PCR and PCR-RFLP methods. In addition to the estimation of Hepatitis B surface (HBs)antigen status by immunochromatography technique and TLR-9 serum level by ELISA technique. Results: The HLA-G + 3142G > C gene polymorphism between the SLE patients and controls
... Show More
(1)
(1)
Background: Bell's palsy was defined as facial weakness of lower motor neuron type caused by idiopathic facial nerve involvement outside the central nervous system without evidence of aural or more widespread neurologic disease. The cause is unclear, but the disorder occurs more commonly in diabetics.Objectives: to differentiate cases of idiopathic Bell's palsy from diabetic mononeuropathy presented with Facial nerve palsy by assessing the taste, because they differ in etiology, management & prognosis.Patients &Methods: One hundred and fifteen consecutive patients were referred for the treatment of facial palsy, from May the 5th 2012 to April 12th 2013 in Al-Kindy Teaching Hospital and The Neurosciences Hospital, in Baghdad / Ira
... Show MoreBackground: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p
... Show More
Background: Patients requiring renal biopsies have various glomerular diseases according to their demographic characteristics.
Objective: To study types of glomerular disease among adult Iraqi patients in a single center in Baghdad/Iraq
Material and Methods: A total of 120 native kidney biopsies were studied. All biopsies were adequate and were processed for Light Microscopy.
The age range of the study patients was 17-67 years, with a mean of 38.5 years. The mean follow up period was 28 weeks (4-52 weeks)
Indication for biopsy included: Nephrotic syndrome (N=72; 60%), Asymptomatic proteinuria (N=21; 17.5%), acute nephritic presentation (N=17; 14.16%), asymptomatic haematuria (N=10; 8.33%).
Results: Primary glomerulonephrit
(8)
(3)
One hundred and six S. aureus were isolated from 250 Nasal swabs of
Healthcare workers and patients at Al- Kadhamia teaching Hospital and Al-
Numan hospital, Baghdad, Iraq. The study was undertaken over a period of
ten months between August 2011 and June 2012. S. aureus isolates were
diagnosed based on phenotypic traits and biochemical tests. Antibiotics
sensitivity to 11 antibiotics, revealed that S.aureus is totally resistant to
Pencillin G (100%), highly resistant to Cefoxitin (alternative to Methicillin)
(94.3%) While there are varied resistance percentage for the rest of
antibiotics: Erythromycin (37.7%), Tetracycline (34.9%), Gentamicin
(29.3%), Trimethoprim/sulfamethoxazole (50%), Ciprofloxacin (29.2%),<