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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
Tue Dec 01 2020
Journal Name
Cureus
Clinical Descriptive Study of Masturbatory Behavior Among Infants and Preschool Children: A Recent Observation From Iraq
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Publication Date
Tue Jan 01 2019
Journal Name
Indian Journal Of Public Health Research &amp; Development
Active Ocular involvement in iraqi Patients with Behçet's Disease
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Publication Date
Thu Oct 07 2021
Journal Name
Romanian Neurosurgery
Indirect revascularization in an Iraqi child with Moyamoya Disease
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Background: Moyamoya disease (MMD) is a rare cerebrovascular disease characterized by bilateral stenosis starting at the supraclinoid internal carotid artery (ICA), with the development of a collateral network of vessels. It is an established cause of stroke in the pediatric age group. Despite its increasing prevalence in various parts of the world, it remains largely underrecognized in the Middle East, particularly in Iraq. This is the first case of MMD in an Iraqi patient undergoing surgery. Case description: A 12-year-old boy presents with a 3-months history of progressive behavioural changes. MRI revealed diffuse infarcts of different ages. MRA and CT angiography revealed extensive asymmetrical steno-occlusive changes of t

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Publication Date
Fri Jan 01 2021
Journal Name
Annals Of Parasitology
Association between genetic polymorphism of IL-27 (rs153109) and toxoplasmosis in Iraqi women with recurrent abortion
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Publication Date
Mon Dec 20 2021
Journal Name
Baghdad Science Journal
Serum prolactin, Preptin, CCL 18 and genetic polymorphisms in Iraqi women with polycystic ovary syndrome
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The polycystic ovary syndrome is an endocrine condition. One of the leading causes of female infertility and the most common disorder among women. The work was being carried out on 100 Iraqi women (50 cases confirmed with PCOS and 50 controls). Between October 2019 and March 2020, blood samples were collected from the Advanced Institute of Infertility Diagnosis and Assisted Reproductive Technology at AL-Nahrain University and a private laboratory. ELISA was used to evaluate the biochemical parameters of preptin, FSH, insulin, LH, and CCL 18 in serum samples from the AFIAS-6 (AFIAS Automated Immunoassay System). The findings of the analysis indicate that, as opposed to the control group, values of prolactin (ng/ml), LH (mIU/ml), Preptin (

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Publication Date
Thu Feb 01 2018
Journal Name
Journal Of Pharmacy And Biological Sciences
Genetic Polymorphism of Iraqi Leishmania tropica Isolates Based on HSP70Gene
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Leishmaniasis is one of the important parasitic diseases, affecting mainly low social class people indeveloping countries, and is more prevalent and endemic in the tropical and subtropical regions of old worldand new world. Despite ofbroad distribution in Iraq,little known about the geneticcharacteristics of thecausative agents. So this study was aimed to evaluate the genetic varietyoftwo IraqiLeishmaniatropicaisolatesbased on heat shock protein gene sequence 70 (HSP70) in comparison with universal isolates recordedsequences data. After amplification and sequencing of HSP70 gene,the obtainedresults were alignment alongwith homologous Leishmania sequences retrieved from NCBI by using BLAST. The analysis results showedpresence of particular g

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Publication Date
Fri Mar 03 2023
Journal Name
World Journal Of Biology Pharmacy &health Science
Ventricular septal defect in children and adults by echocardiography study in Iraqi patients
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A ventricular septal defect (VSD) is defined as a communication between the left and right ventricles or between the left ventricle and the right atrium. VSDs are amongst the most common abnormalities of the heart. They can be present in isolation or in association with other congenital cardiac abnormalities. This is study done with the aim to evaluate the types, size, associated CHD with ventricular septal defect in children and adolescent in two cardiac centers (Medical City Complex cardiac clinics, Ibn Al Nafaes teaching hospital) in Baghdad - Iraq

Publication Date
Sun Oct 01 2023
Journal Name
Baghdad Science Journal
Ghrelin and Obestatin Levels as a Novel Marker in Iraqi Obese Children
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Obesity is an escalating health problem in developing countries. One to ten children worldwide are overweight in a report showed by the International Obesity Task Force. Ghrelin, orexigenic peptide, has 28 amino acids, it is considered the greatest remarkable promotion in the last two decades for understanding the physiological changes of action regu­lating food intake and hunger. Obestatin is a 23-amino acid peptide nearly connected to ghrelin that secures from substitutio

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Publication Date
Fri Sep 15 2023
Journal Name
History Of Medicine
The multifaceted role of Dectin-1 and Card9 in inflammatory bowel disease Iraqi patients
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The study aimed to investigate the role of Dectin-1 and Card-9 in pathogenicity of inflammatory bowel disease (IBD). This investigations involved 150 blood samples for IBD patients which divided in to two groups (50 for crohns disease CD (G2) and 50 for ulcerative colitis UC (G3)). All a apparently (male and female) attended to) Al-Kindy hospital) in Baghdad city, department of Gastroenterology. and all of thin were diagnosis by consulters medical staff and pathologists with age range 15-65years average 40 years. in addition to 50 blood samples were collected from apparently healthy individuals as control group (G1). 10 ml were withdrawn from all participants, 5ml for the immunological study which carried by ELISA technique and 5 ml used fo

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Publication Date
Thu Jan 01 2026
Journal Name
Open Journal Of Medicinal Chemistry
Relationship between chronic hepatitis B virus and pathogenecitity of Celiac disease in Iraqi patients
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the association between celiac disease and viral infection