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Clinical and Genetic Varieties of Gaucher Disease in Iraqi Children
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Abstract<p>Gaucher disease (GD), which is due to a deficiency in the lysosomal enzyme β-glucocerebrosidase, is a rare genetic disorder. It is characterized by a wide variety of clinical manifestations and severity of symptoms, making it difficult to manage. A cross-sectional hospital-based genetic study was undertaken with 32 pediatric patients. We recruited 21 males and 11 females diagnosed with GD, with a male-to-female ratio of 1.91:1. The mean age of the study population was 8.79 ± 4.37 years with an age range from 8 months to 17 years. We included patients on clinical evaluation from 2011 to 2019. An enzyme assay test was used to measure β-glucosidase enzyme activity in leukocytes and the GBA gene study was performed by polymerase chain reaction technique. We found GD type 1 in 27 (84.37%) participants, GD type 3 in five (15.63%) participants, while none classified as GD type 2. The dominant mutation in GD 1 was N370S in 81.5%, of which two-thirds were homozygous. The second common mutation in this type of disease (L444P) was present in nine cases (40.9%), two of whom were homozygous (9.9%). Meanwhile, R463C was present in six cases (27.27%), of whom one was homozygous. In GD 3, the dominant mutation was L444P as seen in 80% of the patients followed by N370S and R463C in 20%. This study shows that the most common mutant allele in this study was N370S, followed by L444P. Further large-scale studies with more advanced designs are recommended to explore the sequences of GBA genes.</p>
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Publication Date
Sat Jun 19 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Serum Chitotriosidase level as a Novel Biomarker for Therapeutic Monitoring of Nephropathic Cystinosis among the Iraqi children
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Background: Cystinosis is a rare autosomal recessive lysosomal storage disease with high morbidity and mortality. It is caused by mutations in the CTNS gene that encodes the cystine transporter, cystinosin, which leads to lysosomal cystine accumulation. It is the major cause of inherited Fanconi syndrome, and should be suspected in young children with failure to thrive and signs of renal proximal tubular damage. The diagnosis can be missed in infants, because not all signs of renal Fanconi syndrome are present during the first months of life. Elevated white blood cell cystine content is the cornerstone of the diagnosis. Since chitotriosidase (CHIT1 or chitinase-1) is mainly produced by activated macrophages both in normal and inflammator

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Publication Date
Tue Feb 26 2019
Journal Name
Journal Of Contemporary Medical Sciences
Demographic and clinical profiles of female patients diagnosed with breast cancer in Iraq
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Objective To highlight the main demographic characteristics and clinical profiles of female patients registered with breast cancer in Iraq; focusing on the impact of age.Methods This retrospective study enrolled 1172 female patients who were diagnosed with breast cancer at the Main Center for Early Detection of Breast Cancer/Medical City Teaching Hospital in Baghdad. Data were extracted from an established information system, developed by the principal author under supervision of WHO, that was based on valid clinical records of Iraqi patients affected by breast cancer. The recorded information regarding clinical examination comprised positive palpable lumps, bloody nipple discharge, skin changes, bilateral breast involvement, tumor

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Publication Date
Thu Jun 30 2022
Journal Name
Iraqi Journal Of Science
Clinical and Histopathological Features of Ovarian Cancer in Iraq, Baghdad Between 2014-2020
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     Ovarian cancer is a heterogeneous disease with disparities in clinical performance and consequences. It is a cluster of numerous subtypes with diverse biological topographies that cause alterations in response to treatments, relapse rates, and endurance. This task was designed to investigate the epidemiology of the diagnosed cases of ovarian cancer from 2014 to 2020 in Baghdad. A total of 51 cases of different ovarian cancer samples were collected from Al-Elwea Maternity Hospital and Medical City Teaching Hospital, Baghdad. Clinical information including patients' age, tumor size and location, pathological grade and stage were also collected. Results revealed high incidence of OC in patients at age of ˂55 years for the rate 59%

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Publication Date
Sun Jun 30 2013
Journal Name
Al-kindy College Medical Journal
Clinical and Doppler Study of Restrictive Filling Pattern in Patients with Dilated Cardiomyopathy
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Background: Dilated cardiomyopathy (DCM) is a well-recognized cause of cardiovascular morbidity and mortality.Objectives: To evaluate the prognostic implications of the restrictive left ventricular filling pattern (RFP) in dilated cardiomyopathy.Methods: Patients with DCM admitted to Ibn AL-Bitar Hospital for Cardiac Surgery, Baghdad-Iraq, from May 2006 to August 2008, underwent a full clinical evaluation and Doppler echocardiography study. Patients were classified into three groups: Group I had persistent restrictive filling pattern; Group II had reversible restrictive filling pattern; and Group III had nonrestrictive filling pattern. Results: The current study was conducted on a total number of 80 patients with DCM, fifty (62.5 %) were

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Publication Date
Tue Sep 01 2020
Journal Name
Asian Journal Of Pharmacy And Pharmacology
Clinical manifestations and maternal outcomes of COVID-19 in pregnancy: A systematic review
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Publication Date
Thu Nov 09 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Platelet Activity And Some Immunological Findings In Atherosclerosis and Coronary Heart Disease
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The   platelet  activity  and  some  immunological  aspects  of

coronary heart disease CIID were investigated by employing platelet count and serum levels of IgG,IgM and lgA,C3 and C4.Three groups of  patients were investigated : patients with ischemic heart disease IHD,  patients  with      lliD+hypcrtension  and  patients  with IHD+unstable angina.The results revealed  that the mean of platelets (mm')  was  significantly  reduced   in  IHD+unstable  angina  group

2.72.L I.l2 compared with conrol b'TOUp 8.13±2.72.

With respect to the immunological study, the re;;ults revea

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Publication Date
Fri Jan 05 2024
Journal Name
Oral Diseases
E-cadherin and TAC in GCF accurately discriminate periodontal health and disease
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Objective To investigate the accuracy of gingival crevicular fluid (GCF) E-cadherin and total antioxidant capacity (TAC) to discriminate periodontal health from disease. Subjects and Methods GCF samples were collected from participants with periodontal health (control), gingivitis, and periodontitis (n = 25 each group). The latter group was further subdivided according to stage (S) and grade. Periodontal parameters were recorded then levels of biomarkers were assayed using ELISA and antioxidant status by use of the Total Antioxidant Capacity Assay for E-cadherin and TAC, respectively. Results All periodontal parameters were significantly higher in periodontally diseased groups than controls. The GCF E-cadherin significantly increased

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Publication Date
Sat Dec 30 2023
Journal Name
Iraqi Journal Of Science
Effect of Electric Shock on Morphological Traits, Yield, Yield Components and Protein Content of Three Varieties of Faba Beans (Vicia faba L.)
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To investigate the effect of electric shock (ES) on morphological variations of faba bean traits, seeds of three varieties of the crop were germinated. When radical was 2-5 mm, seedling were soaked in a 1% NaCl solution for 3h, then transferred to glass container with same solution. Wire with two polar were connected to the container solution and AC current 220 V was switched on for 3,6 and 9 minutes. Seedling then washed and planted at the field in winter 2010-2011,. Factorial Experiment was arranged in randomized Complete Block Design (RCBD) with three replicates were used. Seeds were collected first season of treatments, including the treatment comparison and then planted in the winter season of 2011-2012.The results obtained in the f

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Publication Date
Fri Jan 15 2010
Journal Name
Joijrnal Of College Ofeducation
Association between Insulin Resistance and Mellitus type 1 in children
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Aim of the study is to find any correlation between obesity (insulin resistance) and type I diabetes in children. Obesity and diabetes mellitus are the common health problems, and obesity is common cause of the insulin resistance. The results revealed marked increased in glucose, insulin, HbAlc and insulin resistance in obese diabetic type I patients comparing to control group they were obese and non-obese found to be within normal values for glucose, insulin, FIbAlc , and insulin resistance.

Publication Date
Thu Sep 19 2024
Journal Name
Irish Journal Of Medical Science (1971 -)
Correlation between clinical and MRI findings in disc herniation in the lumbosacral region
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