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.
Introduction and Aim: Kruppel Like Factor 14 (KLF14) gene plays an important role in metabolic illnesses and is also involved in the regulation of many other biological processes. This study's objective was to determine whether or not the KLF14 single-nucleotide-polymorphism (SNP) known as rs972283 was linked to an increased risk of peptic ulcer disease in the population that was being investigated. Materials and Methods: Participants in this study included 71 people who had been diagnosed with peptic ulcers and 50 people who were considered to be healthy controls. In order to genotype the KLF14 SNP rs972283, an amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) was carried out, and the PCR results were
... Show MoreCommon walnut (
From a large number of bacterial samples collected from different hospital in Iraq in central health laboratory ,only ten isolates were identified primary as Vibrio. A number of morphology and biochemical test were carried out to complete this identification that showed all bacterial isolates were related to Vibrio cholerae .In this study all Vibrio isolates were investigated for Bio typing and the result showed that all (10) isolate were related to (Eltor biotypes) .Also, the susceptibility test towards eight antibiotics were carried out .
Results shows that ciprofloxacin , Norfloxacin, Erythromycin, Ampicillin, ceftriaxone and Amikacin were the most effective
... Show MoreStudied the effect of foliar fertilizers Alaongrin results showed that spraying fertilizer Alaongrin and Fertilizers and Ministry of Agriculture and rack licorice extract every three weeks after thirty days from planting seedlings
To assess the use of miniaturized percutaneous nephrolithotomy (mini-PCNL) for renal stones in children, as well as its safety and efficacy. Seventy-seven patients with more than 15 mm renal stones whose age was less than 15 years were enrolled in this prospective case-controlled study at Al-Ramadi Teaching Hospital, Ar Razi Private Hospital, and Ghazi Al-Hariri Hospital for Surgical Specialties, Anbar and Baghdad, Iraq. The study was conducted from January 2020 to January 2024. The group mentioned above served as group A, and it was compared to the control group (group B), which consisted of 70 adult patients aged 18–60 years. Patients in both groups underwent mini-PCNL. Gender, stone size and location, time of operation, stone-free rate
... Show MoreBack ground : Fever is a common medical problem in
children. parents have been shown unrealistic fears of
harmful effects of fever in their children. Resulting in
inappropriate management of fever in their children.
Objective: the objective of this study was to survey
parents about their knowledge andattitude concerning fever
in their children.
Methods : The study involved random selection of
parents who brought their febrile children to emergency
department or out-patient clinics of five teaching and non
teaching hospitals in Baghdad from first of October to end
of December 2002.
Parents of 400 febrile children were interviewed using a
standard questionnaire to obtain sociodemographic
informatio
Back ground : Fever is a common medical problem in children. parents have been shown unrealistic fears of harmful effects of fever in their children. Resulting in inappropriate management of fever in their children. Objective: the objective of this study was to survey parents about their knowledge andattitude concerning fever in their children. Methods : The study involved random selection of parents who brought their febrile children to emergency department or out-patient clinics of five teaching and non teaching hospitals in Baghdad from first of October to end of December 2002. Parents of 400 febrile children were interviewed using a standard questionnaire to obtain sociodemographic information and current knowledge of fever. Results: Ap
... Show MoreThe present study aimed to evaluate the levels of total immunoglobulin E and percentage count of eosinophil in some of allergic disease. Blood sample collected from 210 patients (110 female, 100 male) with allergic disease (allergic asthma, allergic rhinitis, and urticaria) their age between 10-70 years and 50 healthy control their age between 23-52 years. A highly significant (P<0.01) increase in the mean serum total IgE in patients with asthma (503.54 ± 63.49 IU/ml), Allergic rhinitis (442.77 ± 95.76 IU/ml) and urticaria (489.53 ± 69.68 IU/ml) as a compared with healthy controls (23.67 ± 5.81 IU/ml).There was a significant difference in percentage count of eosinophil in patients groups allergic asthma 4.37 ± 0.52% ,allergic rhinitis
... Show MoreReview Article Immunomodulatory Role of Cytokines in Periodontal Disease Batool Hassan Al-Ghurabi*, Maha Adel Mahmood, Zainab A. Aldhaher, Sahar Hashim Al-Hindawi Adv. life sci., vol. 11,...
Abstract
Asthma is a complex disease defined by chronic airway inflammation and airflow limitation causing variable respiratory symptoms which include shortness of breath (SOB), wheezing, chest tightness and cough. Asthma guidelines advocate adding a second long acting bronchodilator to medium doses of inhaled corticosteroids (ICS) rather using high doses of ICS alone to control moderate to severe persistent asthma. The aim of this study was to evaluate the clinical outcomes of three medication regimens indicated for Iraqi patients suffering from persistent asthma.
This study was interventional randomized clinical study conducted on a sample of adult Iraqi asthm
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