Background:Wilson’s disease (WD) is an inherited
disorder of copper metabolism that is characterized
by tremendous variation in the clinical presentation.
Objective: To assess demographic distribution,
clinical presentations, diagnostic evaluation, and any
association between clinical presentations and other
studied variables of a sample of Iraqi patients with
WD.
Methods: A descriptive cross sectional study with
analytic elements was conducted during 2011, from
the 1st of February till the 10th of June. The sampling
method was a convenient non-random one, carried
out through consecutive pooling of registered WD
patients. A questionnaire-form paper had been
developed for the process of data collection.
Results: The study had enrolled 29 patients, with a
male to female ratio of (1.07:1), their mean age was
27.12±12.18 years. 82.8% of them lived in urban
area. 48.3% were singles. Only 20.7% of patients had
a positive family history of WD. 69% of patients had
consanguineous parents. The main initial clinical
presentations were; hepato-neurologic (31%), pure
hepatic (27.6%), neuro-psychiatric (13.8%) and other
presentations (27.6%). Hepatic manifestations were
seen in (82.8%) of patients; jaundice was the most
frequent (89.7%). Ophthalmologic manifestations in
(55.1%) of patients including; Kayser-Fleischer rings
(51.7%), diplopia (6.9%) and cataracts (3.4%).
Neurologic manifestations existed in 44.8% of
patients; tremors were the most frequent (41.4%).
Psychiatric manifestations existed in 31% of patients;
depression was the commonest (27.6%). Joints
manifestations existed in 20.7% of patients. The
diagnosis delay was 11.26±8.2 months.
Conclusion: The higher percentage of patients were
of hepato-neurologic and pure hepatic presentations.
Patients with hepato-neurologic type are diagnosed in
older age, while those with neuro-psychiatric type are
diagnosed in younger age and with longer diagnosis
delay.
Introduction 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
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Background: left ventricular hypertrophy is independent risk factor for cardiovascular morbidity and mortality. The presence of diabetic complications such as autonomic neuropathy and retinopathy may predict cardiac structural changes in diabetic patients. Objective: To explore the chance of occurrence of left ventricular hypertrophy in diabetic patients and whether it is related to the presence of other diabetic complications. Methods: ninty seven (97) normotensive diabetic patients (57) type II with mean duration of diabetes of (12±6 y) and forty (40) type I with mean duration of (8±6 y) were studied by echocardiography and compared with 41 patients as control. Results: The LVMI was significantly higher in type II diabetics compared
... Show MoreDermatophytes are species with slight genetic variation, and are yet several uncertainties about the differences among species. This study aims to isolate and diagnose the Trichophyton interdigitale by molecular technique and to reveal the phylogenetic distance and similarity of the Iraqi isolates to other isolates from the globe, in addition, to submit the obtained sequences to the NCBI database. This study included 86 with multiple lesions on different parts of the body. The results showed different variations within the ITS gene between the isolates. It was concluded that Trichophyton interdigitale in Iraqi isolates had two types of substitution variations (Transition and Transversion) different than global isolates. Moreover, it
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Hypothyroidism is a condition in which thyroid hormones levels decreased in the blood. These hormones are necessary for energy production and body viability. In many occasions this condition is accompanied or followed by different metabolic disorders. The current study is conducted in the "Specialized center for endocrinology and diabetes" and carried on 70 hypothyroid patients and 60 randomly chosen individuals with normal thyroid function .Both groups were submitted to laboratory tests to evaluate thyroid function (T3,T4.TSH). The study involved evaluation of the relationship between hypothyroidism and insulin resistance (IR) . Health problem related to many diseases , became common lately. Insulin resistance diagnosed through
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BACKGROUND: Diffuse astrocytomas constitute the largest group of primary malignant human intracranial tumours. They are classified by the World Health Organization (WHO) into three histological malignancy grades: diffuse astrocytomas (grade II), anaplastic astrocytomas (grade III) and glioblastoma (grade IV) based on histopathological features such as cellular atypia, mitotic activity, necrosis and microvascular proliferation. Epidermal growth factor receptor (EGFR) is a 170-kDa transmembrane tyrosine kinase receptor expressed in a variety of normal and malignant cells regulating critical cellular processes. When activated, epidermal growth factor receptor (EGFR) triggers several signalling cascades leading to increased proliferatio
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Beta thalassemia major (BTM) is a genetic disorder that has been linked to an increased risk of contracting blood-borne viral infections, primarily due to the frequent blood transfusions required to manage the condition. One such virus that can be transmitted through blood is the Human Parvovirus B19 (B19V). The aim of this study was to investigate the frequency and molecular detection of B19V. This study included 60 blood donors as controls and 120 BTM patients. B19V was identified by serology, which measured B19-IgG and B19-IgM antibodies. Nested Polymerase Chain Reaction (nPCR) was employed to target the VP1/VP2 structural proteins. The results showed that B19V seropositivity represents 27.5% (33 out of 120) in BTM patients, and
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The study was carried out to detection of H. pylori in (218) patients who attended two teaching hospitals in Baghdad. The diagnosis was done by Immunochromatography methods. Stools and blood samples were taken from each patient as well as other (30) healthy control matching in age. The study included measurement the Levels of Interleukin-32, Interleukin-33, and Acid phosphatase in sera of patients and control .The result indicated presence of H pylori antigen in 115 cases 59 cases of males and 51 of females , Also, the result indicated increasing levels of IL-32 and IL-33 and Acid phosphatase in patients sera in comparison with healthy control.
Background: Oxidative stress is a deleterious process that can be an important mediator of damage to cell structures and consequently various disease states. Exposure to free radicals from a variety of sources has led organisms to produce a series of defense mechanisms. The antioxidant ceruloplasmin is a copper-containing ferroxidase that can oxidize ferrous iron (Fe2+) to its nontoxic ferric (Fe3+) form. Ferrous iron (Fe2+) is extremely damaging because of its ability to generate toxic free radicals. Oral lichen planus (OLP) is a chronic inflammatory oral mucosal disease of unknown etiology. Previous studies reported that reactive oxygen species may be involved in the pathogenesis of lichen planus. The aim of this study was to estimate the
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