This study reflected on the relationship between contactin associated protein-like
2 gene (CNTNAP2) and autism spectrum disorders. The study includes forty autistic
patients and forty non autistic children as control groups (twenty unaffected sibling
and twenty unrelated children). DNA was extracted from Blood samples for
molecular detection of CNTNAP2 mutations associated with ASDs by using
Polymerase Chain Reaction (PCR) technique and sequencing analysis. PCR reaction
was performed to amplify exon 20 of CNTNAP2 gene. The PCR results revealed that
identical bands related to exon 20 of CNTNAP2 gene were present in all samples.
Therefore, five samples (four from autistic patients and one from control sibling)
were selected for genotype analysis of CNTNAP2 (exon 20) by direct sequencing.
Genotype analysis revealed that there were no any variants in CNTNAP2 (exon 20),
but it shows that two different mutations were identified in non coding region
(introns) of the CNTNAP2 gene (Single Nucleotide Polymorphisms (SNPs),ID SNP:
rs3779032 A/G in 2118282 position and ID SNP: rs3779031 A/C in 2118436
position). rs3779031 A/C are located at intron 19 while SNP rs3779032 A/G are
located at intron 21. These mutations were seen only in autistic patients but not
present in control sample. The current study showed that two common SNPs
(rs3779031 and rs3779032) in CNTNAP2 were strongly associated with ASDs,
where the frequencies of these SNPs were relatively high. SNP rs3779032 were
identified in two autistic patients while rs3779031 were identified in three autistic
patients from four unrelated families with ASDs.
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 re
... Show MoreThis study aimed for isolation and identification of Candida glabrata from specimens of blood collected from national center of hematology /Al - mustansiriya University of immunocompromised patients infection of candidemia after diagnosis by doctor. Results showed the morphological features on many media SDA and Corn meal and differential CHROMagar. Colonies appear small and pink pale to dark. Microscopic exam of show that C. glabrata not form pseudohyphae and not produce germ tubes, the cell size 2 - 3 microns, on the other hand, Biochemical test of C. glabrata have high ability for fermentation of glucose within three hours and trehalose given false positive within two hrs., and the Urease test given negative result, on the other hand
... Show MoreIntroduction and Aim: Beta-thalassemia is a serious inherited genetic disorder and an increasing health burden globally. Beta -thalassemia is caused by genetic globin abnormalities within the hemoglobin beta (HBB) gene. This study aimed to characterize the HBB gene mutations in beta -thalassemia among southern Iraqi patients. Materials and Methods: The study included 30 beta -thalassemia patients referred to the Thi-Qar Center for Genetic Diseases, Iraq and 15 control samples from a random group of apparently healthy individuals. Genomic DNA was isolated from blood sample collected from each individual. The DNA was amplified for specific regions of the HBB gene and the amplified products sequenced. The sequences generated were analysed for
... Show MoreBackground: Autism spectrum disorder (ASD) is characterized by impairments in social interaction and communication, restricted patterns of behavior, and unusual sensory sensitivities. Saliva may provide an easily accessible sample for analysis. Some salivary constituents levels altered in adolescents with ASD including antioxidants . This study aimed to investigate salivary physicochemical characteristic in relation to oral health status among adolescent with ASD. Materials and methods: Two groups were included in this study: forty institutionalized autistic adolescents and forty apparently healthy school adolescents with age range (12-15 years old, only males) selected randomly from Baghdad. Each group subdivided into two groups according
... Show MoreObjectives: The study aims to: (1) assess psychological distress in parents of autistic children, (2) identify the
relationship between psychological distress and parents' socio-demographic characteristics such as (age, marital
status, relationship with child, educational level and monthly income) and (3) identify the relationship between
parent's distress and some of children' socio-demographic characteristics such as (gender, age, birth order and
mean number of children).
Methodology: A descriptive–analytical study that was carried out from December 12th, 2011 to May 1st, 2012.
on a purposive (non- probability) sample of 120 parents (father and mother) who have children with autism and
send their children to the
The locus of enterocyte effacement LEE-encoded regulator (Ler( is a global regulator of multiple virulence genes expression in the Enteropathogenic Escherichia coli (EPEC), including those encoding the type III secretion pathway and adhesion proteins such as intimin. Ler is central to the process of the formation of the attaching and effacing (AE) lesions. This study aimed to perform the molecular detection of Ler gene in EPEC, since there is no related previous study in Iraq. Two hundred and fifty stool specimens from children under two years of age for both sexes were collected from some Iraqi hospitals. All isolates were diagnosed according to morphological characteristics and biochemical tests. The results showed th
... Show MoreThis comprehensive review examines the efficacy and safety of tumor necrosis factor-alpha (TNF-α) inhibitors in treating various autoimmune diseases, and focuses on their application in Iraqi patients. Elevated TNF-α levels are linked to autoimmune disorders, leading to the development of anti-TNF-α therapies such as infliximab, etanercept, adalimumab, certolizumab pegol, and golimumab, which have gained FDA approval for conditions like psoriasis, in¬flammatory bowel disease, ankylosing spondylitis, and rheumatoid arthritis. While these therapies demonstrate sig¬nificant therapeutic benefits, including improved quality of life and disease management, they also carry risks, such as increased susceptibility to infections and pote
... Show MoreBackground: Autism spectrum disorder (ASD) is a general term for a group of complex disorders of brain development; these disorders have no single known cause, they are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors.
Objective: The aim of the study was to evaluate different biochemical parameters in some autistic Iraqi children, and to compare the results with healthy children who matched with age, looking for any alteration in the studied parameters in order to understand the biochemistry of this disorder.
Patients and Methods: Forty one consecutive autistic children admitted to (Al Safa center for autism and Iben- AL Rs