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.
Breast cancer (BC) is the most common malignancy in women worldwide and a major cause of cancer-related deaths for women in Iraq. This assignment was created to investigate the characteristics of BC diagnosed in Baghdad from 2018 to 2021. A total of eighty-nine of paraffin embedded tissue blocks of different breast tissue tumors (71 females and 18 males) with their data, were collected from archive of Histopathology Department, Teaching Laboratories of Medical City, Al-Yarmouk Teaching Hospital, and a private laboratory in Baghdad-Iraq. The clinical information regarding age, gender, tumor size, tumor stage and grade, lymph nodes metastasis, in addition to the findings of estrogen receptor (ER), progesterone receptor (PR), human
... Show MoreBackground:Wilson’s disease (WD) is an inherited
disorder of copper metabolism that is characterized
by tremendous variation in the clinical presentation.
Objective: To assess demographic distribution,
clinical presentations, diagnostic evaluation, and any
association between clinical presentations and other
studied variables of a sample of Iraqi patients with
WD.
Methods: A descriptive cross sectional study with
analytic elements was conducted during 2011, from
the 1st of February till the 10th of June. The sampling
method was a convenient non-random one, carried
out through consecutive pooling of registered WD
patients. A questionnaire-form paper had been
developed for the process of data col
DBN Rashid, IMPAT: International Journal of Research in Humanities, Arts, and Literature, 2016 - Cited by 5
Background: The occurrence of seizures in bacterial meningitis is important, as it has been reported to increase the risk of complications; however, its frequency and predictors are not well studied yet. Objective: To assess the frequency, clinical, and biochemical predictors of seizures in children with acute bacterial meningitis. Method: A cross-sectional study recruited confirmed acute bacterial meningitis cases based on positive CSF culture and sensitivity among children aged 2 months to 15 years admitted to the Central Child Teaching Hospital emergency department in Iraq. Patients were divided into two groups based on seizure at presentation time. Demographic characteristics [age, gender, residence, duration of fever and disease, prese
... Show MoreThe present study conducted on 120 obese males and 50 healthy males, their age ranged from 20-50 years. The patients were divided into 3 groups based on Body Mass Index (BMI) and Central Obesity (CO), it has noticed that there is a significant relation between both indexes. The DNA was isolated from the blood of patients and applies for PCR by using designed primers for exons 1 and 3 of GCG gene. The results showed that there are mutants in exon 1 at locus 9573 (G/C) for 30 patients and locus 9864 (C/-) for 10 patients with X2 = 12.30, also it has fund mutants in exon 3 at locus 5397 (A/G) for 28 patients and locus 5434 (G/A) for 8 patients with X2 = 11.11. These mutants have a high significant effect P≤ 0.001 to cause pathogenicity.
... Show MoreFifty celiac disease (CD) patients (21 males and 29 females) with an age range of 2-35 years and 25 apparently healthy controls were investigated for 10 autoantibodies (anti-tissue transglutaminase IgA antibody; ATA, anti-tissue transglutaminase IgG antibody; ATG, anti-gliadine IgA antibody; AGA, anti-gliadine IgG antibody; AGG, anti-nuclear antibody; ANA, anti-double strand DNA antibody; AdsDNA, anti-thyroid peroxidase antibody; ATP, anti-phospholipid antibody; APP, anti-myeloperoxidase antibody; AMP and anti-proteinase 3 antibody; AP3) in their sera. Six autoantibodies (ATA, ATG, AGA, AGG, AMP and AP3) showed significant variations between CD patients and controls. The first four antibodies were not detected in sera of controls, while
... Show MoreBackground: 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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