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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 Feb 01 2025
Journal Name
Saudi Medical Journal
Spectrum and classification of ATP7B variants with clinical correlation in children with Wilson disease
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Publication Date
Fri Dec 22 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Clinical Characteristics and Therapeutic Management of Osteogenesis Imperfecta in Iraqi Children
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Background: Osteogenesis imperfecta (OI) is a rare congenital condition that results in bone fragility, recurrent fractures, and various extra-skeletal manifestations. Currently, intravenous bisphosphonate is the mainstay of medical treatment in OI. Objective: To identify the effect of current management strategies on Iraqi children diagnosed with OI. Methods: A retrospective study enrolled OI patients who were registered in Central Child Teaching Hospital, Baghdad, Iraq, from January 2015 to December 2022. We enrolled confirmed OI cases (either clinically and/or radiologically) who received cyclic pamidronate therapy for at least 3 cycles. They neither received other types of bisphosphonates nor underwent surgical intervention. Res

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Publication Date
Sun Apr 30 2023
Journal Name
Iraqi Journal Of Science
Genetic Polymorphism of TLR5 and TLP6 in Iraqi Patients with Heart Failure Disease
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       In spite of the high rate of morbidity and mortality heart failure (HF) is common, and none of the medications are now entirely available for HF treatment. In addition to many environmental influences and clinical diseases, genetic factors may also contribute to the progression and development of HF.  In the current study, samples of blood were collected from 150 heart failure patients and 130 healthy controls. We evaluated the association of four single nucleotide polymorphisms (snps) of Toll-like receptors (TLR6 and TLR5) with (HF) susceptibility in the Iraqi population. In this work, (SNP) called Toll-like receptor 5 (rs5744168, rs2072493) and Toll-like receptor 6 (rs1039559, rs5743810) were employed. (PCR-RFLP) for snps

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Publication Date
Tue Jun 15 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Genetic Structure, Transmission, Clinical Characteristics, Diagnosis, Treatment and Prevention of Coronavirus Disease 2019 (COVID-19): A Review
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The novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) caused a pandemic of coronavirus disease 2019 (COVID-19) which represents a global public health crisis. Based on recent published studies, this review discusses current evidence related to the transmission, clinical characteristics, diagnosis, management and prevention of COVID-19. It is hoped that this review article will provide a benefit for the public to well understand and deal with this new virus, and give a reference for future researches.

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Publication Date
Tue Jun 01 2021
Journal Name
Ibn Al- Haitham Journal For Pure And Applied Sciences
Gene Expression of NLRP3 Inflammasome in Celiac Disease of Iraqi Children
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Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Furthe

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Publication Date
Tue Jun 01 2021
Journal Name
Ibn Al-haitham Journal For Pure And Applied Sciences
Gene Expression of NLRP3 Inflammasome in Celiac Disease of Iraqi Children
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Celiac disease (CD) is an autoimmune disorder characterized by chronic inflammation that essentially affects the small intestine and is caused by eating gluten-containing foods. This study sought to determine gene expression of NLRP3 Inflammasome in peripheral blood of Iraqi CD children using quantitative real-time PCR (qRT-PCR) assay. Thirty children with CD (12 males and 18 females) were enrolled in the study and their age range was 3-15 years. The diagnosis of the disease was confirmed by serological examinations and intestinal endoscopy. A control sample of 20 age-matched healthy children was also included. The children were stratified for age, gender, body max index (BMI), histological findings, and marsh classification. Fu

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Publication Date
Mon Aug 15 2022
Journal Name
International Journal Of Science& Research Archive
Nonalcoholic fatty liver disease in a group of Iraqi obese children attending children welfare teaching hospital
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Nonalcoholic fatty liver disease in a group of Iraqi obese children attending children welfare teaching hospital

Publication Date
Fri Jan 01 2021
Journal Name
International Journal Of Agricultural And Statistical Sci.
Evaluating the performance of introduced varieties of Maize (Zea mays L.) And estimating some genetic parameters
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Publication Date
Tue Jun 01 2021
Journal Name
International Journal Of Statistical
Evaluating the performance of introduced varieties of maize (Zea Mays L.) and estimating some genetic parameters
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Publication Date
Sun Mar 04 2018
Journal Name
Iraqi Journal Of Science
Assessment of genetic diversity among wheat selectedegenotypese and local varieties for saltetolerance by usingeRAPD and ISSR analysis
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