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.
Aim: The purpose of this study was to analyze the patterns of facial fractures in children and to compare them between preschool- and school-aged children. Materials and methods: This retrospective observational study included 57 children with facial fractures. The variables analyzed were the age of the patients—divided into a preschool-aged group (0–5 years) and a school-aged group (6–12 years)—gender, cause of trauma, the facial bones involved, the pattern of fracture, the modality of treatment used, the time between injury and treatment, and the postoperative complications. Results: The incidence of facial fractures in children ≤12 years was 30.2%. The patients consisted of 40 (70.2%) males and 17 (29.8%) females, and most pati
... Show MoreTuberculosis continues to be the leading cause of morbidity and mortality, with an estimated annual incidence of 10.4 million worldwide. It has been estimated that 10% of patients with extrapulmonary tuberculosis have musculoskeletal involvement, with the spine being the most common. Spinal tuberculosis (TB) accounts for 50% of cases of musculoskeletal tuberculosis.
Spinal tuberculosis is the result of infection with Mycobacterium tuberculosis. It is a secondary infection, the primary lesion of which is in the lungs, genitourinary system, or gastrointestinal tract and can be active or latent. Involvement of the vertebral segment is the result of hematogenous spread of infection along the arterial pathway or Batson's vei
... Show MoreFrom 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 MoreGenetic algorithms (GA) are a helpful instrument for planning and controlling the activities of a project. It is based on the technique of survival of the fittest and natural selection. GA has been used in different sectors of construction and building however that is rarely documented. This research aimed to examine the utilisation of genetic algorithms in construction project management. For this purpose, the research focused on the benefits and challenges of genetic algorithms, and the extent to which genetic algorithms is utilised in construction project management. Results showed that GA provides an ability of generating near optimal solutions which can be adopted to reduce complexity in project management and resolve difficult problem
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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
... Show MoreAbstract 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 asthmatic patients in Baghdad City. The study com
... Show MoreTo 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 MoreThis study includes replication and attenuation of foot and mouth disease virus type O which isolated from infected calves. Many passages for the virus in chick-Embryo were established as a substitute method to the tissue culture which is highly caustic in contrast to the chick embryo. The virus passed ten consequent passages which lead to the reduce of the titer of the virus from 106.53 TCID50/ 0.1 ml in cattle testis tissue culture to 103 TCID50/ 0.1 ml. the pathogenecity of attenuated FMD virus were also studied in both chick-embryo and guinea pigs. Using agar gel diffusion test precipitation antibodies was detected in guinea pig serum after 14 and 21 days post exposure to the attenuated virus. The inoculated guine
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