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.
Asthma is chronic inflammatory disease affecting 5% of world population. Characterized by eosinophilic type2 inflammation. FKBP51 immunophilin, important modular protein of glucocorticoid receptor (GR). We aimed to evaluate immunocytochemical localization of GR and FKBP51 in induced sputum cells by using immunocytochemical method and immunofluorescent ant-FKBP51 and anti –GR antibody and estimation of IgE and Type 2 inflammatory cytokine IL-5,IL-13 by ELISA technique.GR in the sputum show non-significant decrease of cytoplasmic distribution of the patient groups and highly significant increase in steroid treated patients and non-significant increase in nuclear distribution in non-steroid, FKBP51 nuclear localization show non-significant i
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Background and Objective: Public demand for procedures to rejuvenate photodamaged facial skin have stimulated the use of fractional CO2 laser as a precise and predictable treatment modality. The purpose of this study was to assess the effect of fractional CO2 laser system for reducing periorbital rhytids.
Materials and Methods: twenty seven subjects with mild periocular wrinkles, and photoaged skin of the face were prospectively treated two to three times (according to clinical response) in the periorbital area with a fractional CO2 laser device equipped with a scanning hand piece. Improvements in eyelid wrinkles was evaluated clinically and photographically. Subjects also scored satisfaction and
... Show MoreBackground: migraine is a chronic neurovascular disorder characterized by intermittent attacks of sever headache with or without aura that can include various combinations of neurological, gastrointestinal tract (G.I.T), and autonomic changes, without evidence of primary structural abnormalities. The Autonomic nervous system involvement suggested by many symptoms and signs including nausea, diarrhea, constipation, coldness in the extremities, paroxysmal tachycardia and chest pain.
Objectives: To evaluate autonomic functions in patients with migraine and to clarify the autonomic dysfunction weather its sympathetic, parasympathetic, or combined. Also to assess the severity of this dysfunction and its relation to age, gender and type of
background: human epidermal growth factor receptor-2 (her2/neu) is related to growth factor receptors with alkaline kinase activity and it is regarded as important prognostic and therapeutic factor that can depended on in breast cancer therapy. HER2/neu expression by immunohistochemistry (IHC) is submitted to a great in terob server inconsistency. Subsequently additional confirmatory tests for assessment of gene alterations and amplification status are needed for patients with early or metastatic breast cancer. In situ hybridization techniques and specifically Chromogenic in situ hybridization (CISH) was arise as a practical, cost-effective, and alternative to fluorescent in situ hybridization in testing for gene alterationAims of the study
... Show MoreBackground: Reliable detection the etiological agent of amoebic dysentery and extra-intestinal amoebiasis have Public health importance specially in asymptomatic human and animals, Since the acquisition of pet dogs in the recent period has become widespread in our city. Aim: To give correct perception of infection rate in asymptomatic individuals (human and domestic dogs) for the first aspect and about detection and diagnosis of the pathogenic species of Entamoeba histolytica from another morphologically similar and commensal one using the molecular technique in stool samples of asymptomatic individuals the second aspect. Methods: During the study period from the beginning of September 2020 to the end of February 2021, a total of 95 stool s
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Tuberculosis is caused by Mycobacterium tuberculosis; it is considered as one of the most common, infectious diseases and major causes of morbidity and mortality worldwide. A prospective study was conducted to obtain more clarification about the impact of causative agent and its treatment to enhance autoantibodies production such as ANCA and BPI which used as diagnostic markers for several diseases, and to provide further insight into the classical risk factors (age and sex).Seventy patients with tuberculosis involved in this study, 35 of them were untreated and 35 with treatment administration these patients were attending to directorate of general health national reference laboratory in Baghdad during the period between November/ 2012
... Show MoreBenign prostatic hyperplasia (BPH) is a prevalent condition among elderly and middle-aged men characterized by symptoms such as dysuria, urinary incontinence, and frequent micturition. The gold standard procedure for relieving BPH symptoms is transurethral resection of the prostate (TURP). However, some patients undergoing TURP are at risk of developing urinary tract infections (UTIs) due to uropathogenic bacteria. This prospective study aimed to investigate post TURP bacteruria alongside with multifactoria risk factors that implicated postoperatively compared to preoperative and intraoperative periods. Ninety patients undergoing TURP and 30 control subjects were included in the study. Urine specimen for urine analysis from pateints
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Background: Anti-vascular endothelial growth factors commonly used intravitreally for treatment of variable retinal disease worldwide, which help to regulate the upregulation of vascular endothelial growth factors due to ischemia or/and other retinal insult.
Objective: To review all cases of intravitreal bevacizumab given in the retinal unit of the Eye Specialty Private Hospital in Iraq from December 2015 to June 2016, pointing out the common indications.
Methods: A retrospective study including all cases of intravitreal injections of bevacizumab recorded at the Eye Specialty Private Hospital from December 2015 to June 2016 were retrieved. Age, sex, laterality, diagnosis
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