Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results from mutation(s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. More than 2100 mutations and polymorphisms have been reported in this gene so far. Incidence and genotyping of CF are under-identified in Iraq. This study aims to determine the types and frequencies of certain CFTR mutations among a sample of Iraqi CF patients. Two groups of patients were included: 31 clinically confirmed CF patients in addition to 47 clinically suspected patients of CF. All confirmed pa

Congenital adrenal hyperplasia is a group of autosomal recessive disorders. The most frequent one is 21-hydroxylase deficiency. Analyzing CYP21A2 gene mutations was so far not reported in Iraq. This work aims to analyze the spectrum and frequency of CYP21A2 mutations among Iraqi CAH patients. Sixty-two children were recruited from the Pediatric Endocrine Consultation Clinic, Children Welfare Teaching Hospital, Baghdad, Iraq, from September 2014 till June 2015. Their ages ranged between one day and 15 years. They presented with salt wasting, simple virilization, or pseudoprecocious puberty. Cytogenetic study was performed for cases with ambiguous genitalia. Molecular analysis of

Background: Dystrophinopathies are the commonest forms of muscular dystrophy and comprise clinically recognized forms, Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD). Mutations in the dystrophin gene which consist of large gene deletions (65%), duplications (5%) and point mutations (30%) are responsible for reducing the amount of functional dystrophin protein in skeletal muscle fibers.  This study concentrate mainly at the spectrum of deletions in the 'distal hot spot' region of the DMD/BMD gene in Iraqi DMD/BMD patients using multiplex PCR technique

Objectives: The aim of this study was to investigate the rate, and distribution of deletions in 10 exons of Dystrophin

This study was aimed to investigate the iron overload effect on the levels of ferritin, testosterone, follicle stimulating hormone (FSH), luteinizing hormone (LH) and prolactin (PRL) in male patients with β-thalassemia. Blood levels of sex hormones and ferritin were determined in (50 males) beta-thalassemia patients, aged (16-23) years and in (30) healthy males matched for age. They were recruited from the Abin Al-Balady Hospital in Baghdad. Ichroma™ kits were used to determine the blood levels of sex hormones and ferritin. The results showed that the level of testosterone, LH and FSH were significantly (p≤ 0.05) lower in β-thalassemia male patients compared to controls. Furthermore, the level of ferritin and prolactin in male pati

The present study included a collecting of 165 specimens form different sources,
93 isolates were identified as Escherichia coli depending on morphological and
biochemical tests in addition to automated systems such as VITEK 2 and api 20E.
All isolates under study developed high resistance toward cefotaxime, ceftazidime,
ceftriaxone, and ciprofloxacin estimated by minimum inhibitory concentration. Stool
and wound specimens characterized by harbouring the highest resistant isolates in a
percentage reached 100% against antibiotics under study. Insignificant differences
were found between isolates collected from males and females. Upon using disk
displacement method to detect extended spectrum beta lactamases (ESBL),

Beata thalassemia

Beta thalassemia syndrome by reduction or absence of B-globin chain synthesis. Without iron chelation therapy (ICT) the regular blood transfusion would increase the iron stores to several times. Endocrine glands are vulnerable to iron overload causing endocrine dysfunction.  Iron deposition within the parathyroid gland causes hypoparathyroidism particularly after ten years of age. Pancreatic islets are very susceptible to oxidative damage due to iron overload; their high divalent metal expression makes them highly susceptible to iron-catalyzing oxidative stress. The pathogenicity of osteopathy in  is multifactorial comprising environmental (diet and lifestyle), iatrogenic (medicines), genetic and acqui

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