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GRhJEJUBVTCNdQwCKCV0
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
Thu Jan 15 2009
Journal Name
Thesis
Infantile Gastroenteritis Multifactorial Disease
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Total no. of patient (100) stool samples were collected, during the period from February to the end of May of 2008, for children under two years old suffering from non-bloody and bloody diarrhea at (Children Welfare Teaching Hospital) in Baghdad. The study evaluates the relationship between etiological agent of diarrhea and sex, age group, type of feeding, presence of blood in stool of the patients. All samples were examined microscopically to identify parasitic agent and serological test for Rotavirus to identify viral infection, also biochemical and serological tested for specimen's culture on different culture media and antibiotic sensitivity test. Results show from 100 cases 64] represents the etiological agent of diarrhea and

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Publication Date
Tue Jul 06 2021
Journal Name
Animals
Comparison of the Genetic Structure of Invasive Bigheaded Carp (Hypophthalmichthys spp.) Populations in Central-European Lacustrine and Riverine Habitats
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Bigheaded carps (bighead carp, Hypophthalmichthys molitrix, and silver carp, Hypophthalmichthys nobilis) and their hybrids play an important ecological and economic role in their original habitat, while their introduced stocks may pose serious ecological risks. To address questions about the persistence and invasiveness of these fish, we need to better understand their population structures. The genetic structures of bigheaded carp populations inhabiting Lake Balaton and the Tisza River were examined with ten microsatellite markers and a mitochondrial DNA marker (COI). The Lake Balaton stock showed higher genetic diversity compared with the Tisza River stock. Based on hierarchical clustering, the Tisza population was characterized o

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Publication Date
Sun Apr 23 2017
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Control of American Foul Brood Disease (AFB) in Honey Bee Using Thyme Extracts and Thymol
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 Ethanolic extracts of Thyme (Thymbra spicata) were tested for their inhibitory action on Paenibacillus larvae the causative agent of American foul brood with different concentration by using disc assay and mixed with culture media . Results showd that 3000mg / disc and 3000 mg / ml was the effective concentroation for the both methods .Thymol was isolated by using TLC technique . The effective concentration of thymol on growth of bacteria was 1000 mg / disc .          Thymol and crude extracts of thyme 3000 mg / ml were tested on infected hives by mixed with sugar  solution . The symptoms of AFB disease was full disappearance within 21 , 27 days after treatment with thymol and thyme

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Publication Date
Tue Dec 11 2018
Journal Name
Iraqi National Journal Of Nursing Specialties
Disease Patterns and outcomes of Neonatal Admissions at Raparin Pediatric Teaching Hospital in Erbil City
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Objectives: This study aims to determine the disease’s patterns and outcomes of admission among neonates hospitalized at the neonatal care unit in Erbil City, and using the findings as a baseline for neonate’s morbidity and mortality assessment in the future. Methodology: A retrospective study carried out at neonatal care unit of Raparin pediatric teaching hospital. An instrument for data collection developed by researcher included (age, gender, cause of admission, diagnosis and outcome upon discharge and causes of death). Content validity of the instrument was determined through the use of panel ex

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Publication Date
Wed Jun 11 2025
Journal Name
Journal Of Baghdad College Of Dentistry
Oral manifestation biochemical and IgA analysis of saliva in hyperthyroid (Grave’s disease) patients(Comparative study)
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Background: Hyperthyroidism occurs due to over production of thyroid hormones, one types of hyperthyroidism was Graves, disease. Hyperthyroidism is characterized by high level of serum thyroxin, triiodothyronine and low level of thyroid stimulated hormones. Material and Methods: fifty two hyperthyroid patients, thirty patients under treatment with carbimazole and other twenty two patients under treatment with radioactive iodine, and sixty healthy control group. The average salivary flow rate was calculated as ml/5mint.The concentration of calcium, potassium, and total protein were determined in the salivary supernatant sample. This is done through different biochemical tests. Determination of salivary IgA is done by ELIZA. Results: The most

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Publication Date
Tue Dec 30 2008
Journal Name
Al-kindy College Medical Journal
Clinical Evaluation of the Levels of CEA,CA15-3 and AlphaFeto Protein in Malignant and Benign Pleural Effusion
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Background: Pleural effusion is a common clinical
problem.
Objective: The aim of the study was to evaluate the
diagnostic utility of Carcino embryonic antigen
(CEA), CA 15- 3, and alpha-feto protein ( AFP ) as
a tumor markers in serum and pleural effusion and
evaluate the value of combining them as a diagnostic
tools that are complementary to cytology in the
diagnosis of malignancies .
Methods: Forty patients (18 malignant and 22 benign
pleural effusion) were included in this study .The
serum and effusion levels of CEA, CA 15 – 3 and
AFP were measured using immunoradiometric assay
Results: from the 40 effusions studied 26 were
exudates and 14 were transudates. The level of
pleural effusions

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Publication Date
Tue Jan 01 2019
Journal Name
Annals Of Medicine And Surgery
The prevalence and correlation between subclinical hypothyroidism and gall stone disease in Baghdad teaching hospital
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Publication Date
Thu Oct 31 2019
Journal Name
Al-kindy College Medical Journal
Using Zinc in Management of Subfertile Male Patients: a Clinical Trial
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Background: The use of minerals in treatment of different diseases is as old as man himself. zinc is the most famous trace mineral related to male sexual function. Oligoasthenozoospermic subfertile patients were treated with zinc sulphate for three months.

Objectives: Aim of the research is to investigate the role of Zinc and if it affects the abnormalities of some semen parameters and to study the possible role of pharmaceutical preperations of zinc in amelioration of male subfertility as well as to assess the ability of Zinc to induce changes in the serum and semen zinc levels in addition to the levels of reproductive hormones (FSH and Testosterone).

Type of the study:

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Publication Date
Sat Dec 30 2023
Journal Name
Al-kindy College Medical Journal
Is the Clinical Diagnosis of Cutaneous Leishmaniasis Justified in Endemic Regions?
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Leishmaniasis is a transmissible infection brought about by an obligatory intracellular protozoan from the genus Leishmania.  It occurs worldwide in tropical and subtropical regions and can be burdensome in resource-constrained countries. The infection ranges in severity from mild cutaneous lesions to more severe and sometimes life-threatening visceral and distorting mucocutaneous sicknesses. Importantly, cutaneous leishmaniasis (CL) is prevalent in the Middle East with a pooled prevalence of 12%. It imposes a significant health and socioeconomic burden

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Publication Date
Sun Mar 04 2018
Journal Name
Baghdad Science Journal
Genotyping of fusA Gene from Clinical Isolates Acinetobacter baumannii in Baghdad
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This study aims at detecting the differences in genotyping of coding region fusA gene in clinical isolates of Acinetobacter baumannii from Baghdad, Iraq. Collected two hundred clinical samples (50 samples from urine, 50 samples from wound, 50 samples from sputum and 50 samples from otitis infections). Laboratory diagnosis for bacterial isolates carried out by some biochemical tests and confirmed by using VITEK- 2 compact system. The results appeared that twenty isolates of Acinetobacter baumannii in all these samples. Genotyping study was performed of coding region fusA gene of the extracted genome of all bacterial isolates and used specific primers in achieved amplification process of this target gene. DNA sequencing of this gene and alig

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