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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
Thu Nov 14 2024
Journal Name
Journal Of Emergency Medicine, Trauma And Acute Care
Isolation, optimization, and redesigning of phages of methicillin-resistant Staphylococcus aureus from clinical hospital isolates in Baghdad
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Background: A global health concern is methicillin-resistant Staphylococcus aureus (MRSA). The use of bacteriophages is one of the many novel control strategies against MRSA that are frequently sought. However, it is quite challenging to isolate enough lytic anti-MRSA phages. In order to extract, optimize, and remodel anti-MRSA phages, this study sought novel approaches.

Methods: Two ATCC MRSA strains and nine clinical MRSA isolates were used to isolate wild anti-MRSA phages from hospital settings, dirt, and sewage. The wild phages were optimized using plaque-based biokinetic techniques. Usi

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Publication Date
Sun Jul 01 2007
Journal Name
Journal Of Faculty Of Medicine Baghdad
A Comparative Study of the Frequency of Occurrence of Genetic Skeletal Disorders in Iraq before and after the Second Gulf War, 1991
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BACKGROUND: Genetic skeletal abnormalities are a heterogeneous group of genetic disorders frequently presenting with disproportionate short stature. AIM OF THE STUDY: To give an idea about the frequency of genetic skeletal abnormalities, and to find out whether these disorders are really increasing in the last 16 years or not. METHODS: During the period extending from (Jan, 1st 2003-April, 1st 2007), all cases of genetic skeletal disorders referred to the Genetic Counseling Clinic, Medical City – Baghdad who were born after 1991 were included in this study as the post-war group; the pre-war group, included all cases of skeletal disorders referred prior to 1991 (Jan., 1st 1987-Jan., 1st 1990). The demographic parameters, family history of

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Publication Date
Thu Dec 01 2022
Journal Name
Baghdad Science Journal
Investigation of the association of AGTR1 A1166C rs5186 and FTO rs9939609 polymorphisms with the obesity in children and adolescents
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Obesity is a risk factor for a number of chronic conditions. Obesity is clinically defined using the body mass index (BMI) as weight in kg divided by (height)2 in m2 correlated with obesity. Currently, genetic markers of obesity are being studied. This study focused on the association between the angiotensin II receptor AGTR1 gene (A1166C) and fat mass and obesity-associated protein also known as alpha-ketoglutarate-dependent dioxygenase (FTO) (rs9939609) in obese children and adolescents patients in Rostov region, Russia.  Five-hundreds of Russian nationality child and adolescent were recruited for the obesity-control studies. The relationship between the A1166C polymorphism of the AGTR1 gene in

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Publication Date
Sat Jan 01 2022
Journal Name
Journal Of Pharmaceutical Negative Results
Environmental effects on intestinal parasitic disease transmission in Mosul governorate
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This study, which was conducted in the city of Mosul, through collected 1200 samples from the stool of patients with diarrhea attending hospitals and private clinics for the period from the beginning of January 2019 to the end of December 2019, those whose ages ranged from less than a year-60 year, and for both sexes and by reality 700 samples stool for males and 500 samples stool for females. Samples were collected in clean, sterile, and sealed 40ml plastic bottles. Patient information is noted, name of the parasite, history, sex, age, address. The result showed that climate and temperature have a significant effect on increase the incidence of intestinal parasites through the direct effect on the increase in infection rate. This effect wa

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Publication Date
Sat Dec 30 2023
Journal Name
Al-mustansiriyah Journal Of Science
Study of Phenotypic and Genotypic Factors of Staphylococcus aureus Clinical Local Isolates
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The isolates of Staphylococcus aureus were isolated from patients with various infections in hospitals, the isolates were identified and accurately diagnosed by phenotypic examination and biochemical tests, as well Vitek-2, and then genetic detection and diagnosis of many of the pathogenic factors associated with Staphylococcus aureus using conventional polymerase chain reaction (PCR) and testing for association by antibiotic resistance and production of some toxins by Staphylococcus aureus. After performing analysis of statistical, it was set up that the correlation coefficient of the PCR technique using virulence genes, sensitivity test to antibiotics and other virulence factors were significant at p < 0.05, but was insignificant with the

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Publication Date
Thu Oct 01 2020
Journal Name
Iraqi Journal Of Biotechnology,
Isolation and Identification of Multidrug Resistance Among Clinical and Environmental Pseudomonas aeruginosa Isolates
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Pseudomonas aeruginosa is the most common opportunistic pathogen causing morbidity and mortality in hospitalized patients due to its multiple resistance mechanisms. Therefore, as a therapeutic option becomes restricted, the search for a new agent is a preference. So P. aeruginosa is an extremely versatile Gram-negative bacterium capable of thriving in a broad spectrum of environments, and this performs main problems to workers in the field of health. One hundred and fifty samples were collected from different sources from Baghdad hospitals, divided into two main groups: clinical (100) specimens and (50) samples as an environmental, collected from October 2019 to the March 2020. All of these samples were cultured by specific and differential

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Publication Date
Wed Jan 07 2015
Journal Name
World Journal Of Experimentalbiosciences
Biofilm formation and antibiotic susceptibility for clinical and environmental isolates of Pseudomonas aeruginosa
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Pseudomonas aeruginosa is emerging opportunistic clinical pathogens. Clinical isolates of P. aeruginosaresist wide spectrum of antibiotics and form biofilm. The comparison study between clinical and environmental of P. aeruginosa in terms of biofilm formation and antibiotic resistance is very scanty. Thus, in current study microtiter plate technique was used to measure the biofilm formation by several clinical and environmental isolates. Moreover, the antibiotic susceptibility of these bacteria was evaluated by VITIK 2 techniques. The relationship between the antibiotic susceptibility and biofilm formation was evaluated for clinical and environmental isolates. Clinical and environm

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Publication Date
Sat Oct 10 2026
Journal Name
Iraqi Journal Of Biotechnology
Isolation and Identification of Multidrug Resistance Among Clinical and Environmental Pseudomonas aeruginosa Isolates
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Pseudomonas aeruginosa is the most common opportunistic pathogen causing morbidity and mortality in hospitalized patients due to its multiple resistance mechanisms. Therefore, as a therapeutic option becomes restricted, the search for a new agent is a preference. So P. aeruginosa is an extremely versatile Gram-negative bacterium capable of thriving in a broad spectrum of environments, and this performs main problems to workers in the field of health. One hundred and fifty samples were collected from different sources from Baghdad hospitals, divided into two main groups: clinical (100) specimens and (50) samples as an environmental, collected from October 2019 to the March 2020. All of these samples were cultured by specific and differential

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Publication Date
Sun Mar 06 2011
Journal Name
Baghdad Science Journal
Toxoplasmosis: Serious disease during pregnancy
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Toxoplasmosis is an infection caused by Toxoplasma gondii that leads to abortion or hydrocephalus during pregnancy.One hundered and twenty two aborted women were selected for this study. Serum samples were collected form Al-Kadhmia and Kamal Al-Samari Hospitals,and laboratories around Baghdad, and tested for specific IgG and IgM anti-toxoplasma antibodies to confirm toxoplasmosis in those women by using ELISA test.The result recorded that 51(41.8%) women had antibodies against Toxoplasma gondii, 25(59.5%) women were positive for IgG, and 17(40.5%) women were positive forIgM, while 9(17.6%)women were positive for both.

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Publication Date
Wed Aug 30 2023
Journal Name
Iraqi Journal Of Science
Periodontal Disease: A Predictive Profile
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    Periodontal diseases such as gingivitis and periodontitis are considered common diseases. This study is aimed to predicate these diseases using non-harmful specimens such as saliva throughout the detection of some parameters. In the beginning, a random 51 patients' saliva was collected from outpatients who suffered from different degrees of periodontal diseases. Concurrently, another 40 people who appeared to be healthy were collected, and both patients and healthy people were subjected to a questionnaire form and diagnosed by a specialist dentist. The results of this study revealed that there is no significant difference between males and females in infection with periodontal diseases. As well, smoking is not acting as the m

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