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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
Mon Mar 12 2012
Journal Name
Iraqi Journal Of Science(the 1 St Scientific Conference Of Biology Department College Of Science University Of Baghdad March 2012)
Rotavirus Infection in Infants and Young Children with Acute Gastroenteritis in Baghdad.
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Publication Date
Tue Jul 31 2018
Journal Name
Online Journal Of Veterinary Research
Clinical pathology and immuno-histochemistry of mammary tumors from military and pet dogs in Iraq.
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Mammary tumors (CMT) in dogs in Iraq may be induced by carcinogenic war ordnance. In our study, 10 virgin un- spayed military/pet bitches aged 5-15 years presented with abnormal masses in the abdomen with painful oedema, swelling, anorexia, weight loss, weakness and mild fever. Examination of regional lymph nodes and thoracic radiography confirmed metastasis. Tumors were excised and determined to be mostly adenocarcinomas involving multiple glands, solid in texture, 5-15 cm in size, mostly in the inguinal mammary glands at stage T3: >5 cm. Microscopy confirmed presence of adenocarcinoma in 8 dogs and solid carcinoma in 2 with half of tumors being grade III. Tumors had pleomorphic hyperchromatic cell nuclei in stroma, epithelial cells of duc

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Publication Date
Mon Jul 01 2024
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of some Biochemical and Hematological Parameters in Patients with Chronic Kidney Disease
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Background: Chronic kidney disease is a condition that results from an indefinite change in the structure and function of the kidneys. A slow, steady progression characterizes it and is irreversible.  Objectives: This study aims to evaluate the findings of certain biochemical and hematological tests in samples from Iraqi CKD patients.  Methods: This study included 90 subjects, where 70 patients with chronic kidney disease and 20 healthy individuals. Blood samples were collected from the patients during their visits to Ghazi Al-Hariri Surgical Specialties' Hospital- Medical City, Baghdad, Iraq. Age, sex and body mass index were assessed for each participant followed by renal function tests [serum blood urea, creatinine, uric acid a

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Publication Date
Tue Oct 24 2017
Journal Name
International Journal Of Science And Research
Incidence Rate of Infectious Diseases in Hospitalized Children
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Objective: The incidence of infectious diseases among hospitalized children remains high. This study describes the environmental health indicator diseases and differences between gender and age of the affected children. Patients & Methods: A review of hospitalization and death causes among children admitted to the Child Teaching Hospital for Pediatrics in Baghdad, Iraq was performed. Medical records of children admitted throughout three years period were collected for demographics data and statistical analysis using Chi-square test. Results: A total of 4,272 admissions and 309 deaths were recorded. Infectious diseases remain the primary cause of hospitalization among children and frequently lead to death; which recorded (56%) followed by ac

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Publication Date
Sun Jan 01 2023
Journal Name
Journal Of Biomechanical Science And Engineering
GENETIC ANALYSIS OF INTERLEUKIN 37GENE SINGLE NUCLEOTIDE POLYMORPHISMS IN ALOPECIA AREATA PATIENTS
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Background: Alopecia areata(AA) is a common autoimmune disease that causes hair loss without scarring. It occurs as a result of T-helper 1 (Th1) and Th17 cells attacking the anagen hair follicles. Genetic factors play a role in the occurrence of infection, which stimulates the production of pro and anti-inflammatory interleukins. Polymorphisms of IL-37 play a role in autoimmune diseases. However, IL37 single nucleotide polymorphisms(SNP) have not been identified in patients with AA. Therefore, this study aimed to reveal the IL37 gene SNP and its relationship to AA. Methods: Genotyping of IL-37 gene single nucleotide polymorphisms SNPs were detected using sequence-specific primer-polymerase chain reaction (SSP-PCR) method was done following

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Publication Date
Sun May 28 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
The Effect of Voltarin Drug on Some Genetic Indices in Albino Mice
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   The present study  is designed to reveal the  effect of  Voltarin drug   on some genetic indicators such as  mitotic index(MI) of bone marrow cells and chromosome  aberrations(CA) .The Voltarin is one of non Steroidal Anti-inflammation drug .Three concentrations of Voltarin  were used  1.6 , 2 , 2.5   mg/kg  Albino  mices  (Mus  musculus) were  injected  for 7 days then     mitotic index (MI) was counted and chromosomal aberrations of bone marrow cells  .  The  results  could be  summarized  as   follows :  1-The doses (1.6,2) mg/Kg  showed no  negative effects on&nbs

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Publication Date
Fri Apr 30 2021
Journal Name
Iraqi Journal Of Science
A Genetic Algorithm for Task Allocation Problem in the Internet of Things
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In the last few years, the Internet of Things (IoT) is gaining remarkable attention in both academic and industrial worlds. The main goal of the IoT is laying on describing everyday objects with different capabilities in an interconnected fashion to the Internet to share resources and to carry out the assigned tasks. Most of the IoT objects are heterogeneous in terms of the amount of energy, processing ability, memory storage, etc. However, one of the most important challenges facing the IoT networks is the energy-efficient task allocation. An efficient task allocation protocol in the IoT network should ensure the fair and efficient distribution of resources for all objects to collaborate dynamically with limited energy. The canonic

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Publication Date
Wed Jun 03 2020
Journal Name
Journal Of Applied Mathematics
Order and Chaos in a Prey-Predator Model Incorporating Refuge, Disease, and Harvesting
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In this paper, a mathematical model consisting of a prey-predator system incorporating infectious disease in the prey has been proposed and analyzed. It is assumed that the predator preys upon the nonrefugees prey only according to the modified Holling type-II functional response. There is a harvesting process from the predator. The existence and uniqueness of the solution in addition to their bounded are discussed. The stability analysis of the model around all possible equilibrium points is investigated. The persistence conditions of the system are established. Local bifurcation analysis in view of the Sotomayor theorem is carried out. Numerical simulation has been applied to investigate the global dynamics and specify the effect

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Publication Date
Wed May 10 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Genetic and Bacteriological Study of Aerobic Bacteria Which Causes Cesarean Section Contamination in Women in The City of Diwaniya
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    This study was designed  to stand  on the most important causes of contamination in sesarean section in women by the aerobic bacteria species the bacteria isolates  were diagnosed in the Maternity and Children  Hospital in the Qadsiya province and in the special clinics. Sixty five persent of women having cesarean operation were contaminated with different bacteria in different ratios. Staphylococcus aureus  showed the higher percentage  (62.4) , Pseudomonas.aerogenosa  18% , E.coli 9.5% and Proteus.spp (6,4%).While Streptococcus pyogens showed lowest percentage 3.6% .  The results of antibiotic sensitivity test for all bacteria  isolates showed  Chloramphenicol and Ami

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Publication Date
Mon Jun 30 2014
Journal Name
Al-kindy College Medical Journal
The Role of Interleukine-33 in Inflammatory Bowel Disease
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The inflammatory bowel disease (IBD), Crohn’s disease (CD) and ulcerative colitis (UC) are heterogenous chronic inflammatory disorders of the gastrointestinal tract. The most widely accepted etiopathogenic hypothesis for these disorders suggests an immune mediated process.
Objective: This study was performed to evaluate the role of interleukine-33 in pathogenesis of inflammatory bowel disease and to correlate their levels with the disease activity and/or severity.
Methods: Fifty five subjects with inflammatory bowel disease (41 ulcerative colitis patients and 14 Crohn’s disease patients) their ages range from 16-65 years and 25 apparently healthy volunteers their ages and sexes were matched with the patients were participated i

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