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.
Background: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
Background: Mycoplasma pneumoniae (M. pneumoniae) is an important respiratory bacterial pathogen, especially among children. It causes acute upper and lower respiratory infections.Objective: This study was aimed to measure anti- M. pneumoniae antibodies among hospitalized children who were admitted to hospital diagnosed with acute respiratory tract infections.Method: Automated ELISA technique was performed to detect anti- M. pneumoniae antibodies (IgM and IgG antibodies) in serum from 108 children less than 5 years old. The children were admitted to the Pediatric Teaching Hospital in Suleimani city/Kurdistan Region/Iraq because of acute respiratory tract infections. A questionnaire was designed to collect demographic and clinical data fr
... Show MoreDBN 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 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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