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: Patients who have both neurological impairment and kyphotic deformity can be treated medically, and this treatment can be achieved with anti-tuberculous drugs alone.
Objective: To evaluate conservative medical management of patients with tuberculosis of the spine (Pott disease). The prognostic significance of various clinical, radiological, and long-term follow-up findings in these patients was also evaluated.
Methods: Between January 2009 and January 2018 data were collected prospectively at The Neurosciences Hospital/ Baghdad/ Iraq in 44 patients with Pott disease in the thoracic and lumbar spine. These patients had no major neurological deficits or
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Acute lymphoblastic leukemia (ALL) is one of the most common diseases , so in this study the serum level of malondialdehyde and its relationship with metanephrine was investigated in acute lymphoblastic leukemia patients over one month of treatment. Some biochemical parameters (serum glucose , total serum protein , malondialdehyde ,vitamin C, and metanephrine) changed as well as white blood cell count and blood hemoglobinlevelswere analyzed in sixty patients diagnosed with acute lymphoblastic leukemia over one month of treatment compared to healthy control group.Statistically significant increases (p<0.01) in white blood cell (WBC) count, mean concentrations of malondialdehyde (MDA) (p< 0.05) and metanephrine (p< 0.001) were observed in
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Cox regression model have been used to estimate proportion hazard model for patients with hepatitis disease recorded in Gastrointestinal and Hepatic diseases Hospital in Iraq for (2002 -2005). Data consists of (age, gender, survival time terminal stat). A Kaplan-Meier method has been applied to estimate survival function and hazerd function.
Cholelithiasis is one of the commonest surgical problems and one of the most common gastrointestinal diseases throughout the world but its pathogenesis remains unclear. Many theories have been proposed forward to explain the mechanism of stone formation. It is not fully clear if symptomatic gallstone disease is associated with a specific pattern of some biochemical abnormalities, as lipid profile and fasting blood sugar in serum of patients.
This study was designed to estimate lipid profile and fasting blood sugar in the sera of patients with cholelithiasis in comparison with normal individuals (control).
In this study, 104(male=16, female=88) were symptomatic gallstone patients (aged 42.79± 12.18 years), and 38(male=6
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Background: Joint hypermobility was first mentioned by Hippocrates as an isolated feature, when he described the Celts' Incapacity to Pull a Bowstring or Throw a Dart, Due to The Slackness of Their Limbs
Objective: to determine the prevalence of mitral valve prolapse(MVP)in patients with benign hypermobility syndrome (BJHS).
Type of the study: Cross –sectional study.
Methods: Ninety patients with BJHS were included in this study. Full cardiological assessment was done for all of them, which include clinical examination, electrocardiography and echocardiography. Cardiac assessment was done for another sixty age and sex matched (
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Due to the significant role in understanding cellular processes, the decomposition of Protein-Protein Interaction (PPI) networks into essential building blocks, or complexes, has received much attention for functional bioinformatics research in recent years. One of the well-known bi-clustering descriptors for identifying communities and complexes in complex networks, such as PPI networks, is modularity function. The contribution of this paper is to introduce heuristic optimization models that can collaborate with the modularity function to improve its detection ability. The definitions of the formulated heuristics are based on nodes and different levels of their neighbor properties. The modulari
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The aim of the present study is to study the meiobenthic invertebrate's community associated with the aquatic plant Ceratophyllum demersum in Al-Salamiyat irrigation canal / north Baghdad, with the chemical and physical parameters of the canal water, during the study period from September 2015 to May 2016. Two sites were chosen for sample collection, the first site (S1) at the beginning of the canal near it's connection with Tigris river, and the second site (S2) after 10 km from the first site. The chemico-physical analysis results revealed that the water temperature ranged from 10-30oC, and pH values ranged between 6.9-7.8, and the dissolved oxygen concentration and the BOD values from 7.2-9.2 mg/l, and 1.2-5.4 mg/l, respectively. The sal
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