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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
Sun Jan 30 2022
Journal Name
Gsc Advanced Research And Reviews
Review of Coronavirus disease- 2019 (COVID-19) in Iraq
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The severe acute respiratory syndrome coronavirus 2 (SARS-CoV 2) or 2019 novel coronavirus (2019-nCoV) is quickly spreading to the rest of the world, from its origin in Wuhan, Hubei Province, China. And becoming a global pandemic that affects the world's most powerful countries. The goal of this review is to assist scientists, researchers, and others in responding to the current Coronavirus disease (covid-19) is a worldwide public health contingency state. This review discusses current evidence based on recently published studies which is related to the origin of the virus, epidemiology, transmission, diagnosis, treatment, and all studies in Iraq for the effect of covid-19 diseases, as well as provide a reference for future research

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Publication Date
Mon Jun 09 2025
Journal Name
Journal Of Baghdad College Of Dentistry
An Evaluation of Serum and Salivary Adipokines (Leptin and Resistin) Levels in Periodontal Health and Disease
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Background: With the start of the current century, increased the interest in the role of the adipose tissue derived substances that named adipokines in the inflammatory diseases of the human being including the inflammatory periodontal disease, but scientific evidences were not clearly demonstrate the association between these adipokines and periodontal pathologies. Materials and Methods: Forty two subjects male only with normal body mass index were selected for the study with an age ranged (30-39 years). Samples were divided into three groups of 14 subjects in each group based on clinical periodontal parameters; clinically healthy gingiva (group I), gingivitis group (group II) and chronic periodontitis patients group (group III), from whom

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Publication Date
Mon Jan 21 2019
Journal Name
International Journal Of Pharmaceutical Quality Assurance
Genetic Assessment of Antibiotic Resistance in Salmonella Enteric a Serovar Typhi in Kirkuk Province
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Around fifty isolates of Salmonella enterica serovar Typhi were isolated from blood specimens of patients referring to several hospitals in Kirkuk province, Iraq. The results revealed that all isolates developed resistance to trimethoprim-sulfamethoxazole and chloramphenicol. However, neither sul2 nor tem genes were detected. Moreover, only ten isolates were positive for catP. Our data suggested participation of other genes or mechanisms allow these multidrug isolates to resist the antibiotics in question.

Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
The role of electrolytes and inflammatory biomarkers in the development of febrile seizure in children
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Publication Date
Sun Oct 15 2023
Journal Name
Bionatura
Nesfatin-1 is a biomarker that plays a role in the inflammatory process of coronary artery diseases in Iraqi patients with non-alcoholic fatty liver disease.
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Amis: NAFLD is considered to be the most common cause of liver conditions worldwide. Also, it is a primary reason that leads to coronary artery diseases, limiting blood flow to the heart. Therefore, This study aimed to evaluate the serum level of Nesfatin-1 and its ability to indicate the prognosis of CAD in patients with NAFLD. Material & Methods: one-hundred eighty Individuals were enrolled in the study, including In both genders, blood was collected from each Individual and sent to the laboratory for biochemical tests. Findings: Data from the current study showed a significant increase in Nesfatin-1 in the CAD group and a significant decrease in Nesfatin-1 in the NAFLD group compared to the control group. In addition, there w

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Publication Date
Mon Nov 19 2018
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Evaluation and Correlation of Hepcidin-25 Hormone, Hemoglobin and Packed Cell Volume of Patients With β-Thalassaemia Intermedia Before and After Blood Transfusion for Iraqi Children Patients
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            β-thalassaemia consists of 3 chief forms: thalassaemia primary (other called "cooley's Anaemia" or "Mediterranean durability Anaemia"), thalassaemia intermedia or thalassaemia minor also frequent termed "β-thalassaemia carrier", "β-thalassaemia trait" however, "heterozygous β-thalassaemia". separately from the rare magisterial forms, problem along β-thalassaemia essential are homozygotes or made heterozygotes because B0 and B+ genes, problem including thalassaemia intermedia are typically homozygotes and compound heterozygotes then subjected with thalassaemia minor are broadly heterozygotes.

In this study, we t

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Publication Date
Thu Jan 31 2019
Journal Name
Journal Of The College Of Education For Women
Obesity in kindergarten children and its relation with some variables Family
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Obesity is a common disease that resulted from over-nutrition in adults and children. It rarely causes damage to the centers of food in the brain. Obesity is defined as an increased body weight from its natural limit which is resulted from the accumulation of excessive amounts of fatty tissue incredibly up to 20% in males, 30 % in females unless this increase is not due to an increase in muscles as in athletes or accumulation of water in the body which is resulted from Mesothelioma or the magnitude of the skeleton.Obesity is the increase of the total average of fat in the body compared to other tissues, which causes an increasing body weight, thereby increasing body mass. The fatty child has an increase in the stored fatty layer under th

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Publication Date
Wed Jun 01 2011
Journal Name
Al Mustansiriyah Journal Of Pharmaceutical Sciences
Comparing the clinical efficacy and safety of high doses of beclomethasone inhaler with medium doses of beclomethasone inhaler combined with oral aminophylline or montelukast tablets in persistent asthmatic Iraqi patients.
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Asthma is a chronic inflammatory disorder of the airways in which many cells and cellular elements play a role. The treatment guidelines recommend theuse of a second controller drug in addition to medium doses of inhaled corticosteroids (ICSs) rather than the use of high doses ICS alone in the treatment of moderate-severe persistent asthma. This study was conducted to compare the clinical efficacy and safety of three treatment regimens in Iraqi patients with moderate-severe persistent asthma.The study included three groups; each group included 15 patients. Patients were administered beclomethasone inhaler alone 1500-2000 μg/day, beclomethasone inhaler 750-1000 μg/day plus oral controlled release aminophylline tablets 450 mg/day or

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Publication Date
Sun Dec 09 2018
Journal Name
Baghdad Science Journal
Detection of Pseudomonas aeruginosa in Clinical Samples Using PCR Targeting ETA and gyrB Genes
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Pseudomonas aeruginosa has variety of virulence factors that contribute to its pathogenicity. Therefore, rapid detection with high accuracy and specificity is very important in the control of this pathogenic bacterium. To evaluate the accuracy and specificity of Polymerase Chain Reaction (PCR) assay, ETA and gyrB genes were targeted to detect pathogenic strains of P. aeruginosa. Seventy swab samples were taken from patients with infected wounds and burns in two hospitals in Erbil and Koya cities in Iraq. The isolates were traditionally identified using phenotypic methods, and DNA was extracted from the positive samples, to apply PCR using the species specific primers targeting ETA, the gene encoding for exotoxin A, and gyrB gene. The res

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Publication Date
Mon Sep 01 2003
Journal Name
Iraqi Journal Of Tropical Disease Researches
The isolation and identification of some pathogenic bacteria from clinical cutaneous infection in human
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