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: HLA-B27 can effect clinical presentation and course of ankylosing spondylitis. Different detection techniques of HLA-B27 are available with variable sensitivities and specificities. OBJECTIVE: To compare serologic and molecular diagnostic techniques of detecting HLA-B27 status and to correlate it with some clinical variables among ankylosing spondylitis patients. PATIENTS AND METHODS: A cross-sectional study was conducted on 83 Iraqi patients with ankylosing spondylitis. Clinical and laboratory evaluations were reported. HLA-B27 status was determined in all patients by real-time PCR using HLA-B27 RealFast™ kit; ELISA method was used as well to detect soluble serum HLA-B27 antigens using Human Leukocyte Antigen® kit. RESULTS:
... Show MoreBackground: Bimaxillary protrusion is considered as one of the most important causes to seek the orthodontic treatment to get better esthetics. This study aimed to test the effect of orthodontic treatment in improvement the facial esthetics. Materials and Methods: Ten Iraqi Arab females having bimaxillary protrusion based on Class I malocclusions treated with fixed orthodontic appliance and extraction of the maxillary and mandibular 1st permanent premolars. Pre and post-treatment facial profile photographs were taken for each patients and the effect of treatment was tested in comparison with the pre-treatment photographs by using seven angular measurements. Results: After treatment, the upper and lower lip projections were decreased signifi
... Show MoreInfection with Trichomonas vaginalis and its relation to some diseases have lately had much attention. The objective of this study was to assess the infection rate of T. vaginalis and its relation to pelvic inflammatory diseases, infertility, and vaginosis. The study also assessed some demographic, clinical, and immunological parameters in women infected with T. vaginalis. The study included 160 non-pregnant married women who attended some private clinics and public hospitals in Baghdad from October 2020 to February 2021. All participants had symptoms of vaginal discharge only or vaginal discharge with lower abdominal pain. The participants were divided into an infertility group (n = 61) and fertility group (n = 99). The participant
... Show Moreالخلفية: إن سمية الدواء والآثار الجانبية للعلاج الكيميائي تؤثر سلبا على مرضى سرطان الثدي. الأهداف: لتقييم فعالية التدخلات الصيدلانية في تحسين معرفة مرضى سرطان الثدي ومواقفهم وممارساتهم فيما يتعلق بالعلاج الكيميائي لسرطان الثدي.
Introduction: Cardiovascular diseases are the main cause of death among type 2 diabetic patients. Higher levels of plasminogen activator urokinase receptor have been found to predict morbidity and mortality across acute and chronic diseases in the common populace. This study aims to explore the role of serum plasminogen activator urokinase receptor levels as a cardiometabolic risk factor among type 2 diabetic Iraqi patients. Methods: Seventy type 2 diabetic patients (40 male and 30 female) (mean age: 46.20±7.56 years) participated in this study; 35 patients were with cardiovascular disease and 35 were without cardiovascular disease; their ages range was 40-55 years. In addition, 30 individuals who apparently healthy were selected a
... Show MoreAsthma is one of the most common chronic, non-communicable diseases affecting children worldwide. The estimated prevalence of pediatric asthma in Iraq is 15.8%. Physiologic, inflammatory and structural factors contribute to the development of asthma. Assessment and monitoring of asthma control can be done by a validated children asthma control test (CACT). Management of asthma must address three components which are an appropriate management plan, the most appropriate medication if necessary, and the use of safe and effective medication. The management plan should consider patient counseling and education about the definition of asthma, signs, and symptoms, the pathophysiology of asthma, common triggers for asthma and how can avoid them,
... Show MoreGastro oesophageal reflux disease is due to involuntary gastric contents reflux into the esophagus from stomach, causing heartburn and acid regurgitation symptoms. Genetic and environmental factors are important factors in the causation of disease. Human Leukocyte antigens considered as an excellent marker for population genetics analysis and disease association. This study aimed to investigate the association between HLA-DRB1-DQB1 haplotype that inherited in linkage and its association with gastro oesophageal reflux disease (GERD). Patients and healthy controls were prospectively recruited from gastrocolonoscope unit at Al-Kindy Teaching Hospital (Baghdad-Iraq) between January and July 2016. Forty Iraqi Arab Muslims patients with a history
... Show MoreBackground: Cardiovascular disease (CVD) is an important complication of type 2 diabetes mellitus (T2DM). Oxidative stress plays a major role in the development of CVD. Saliva has a diagnostic properties aiding in the detection of systemic diseases. This study aimed to assess the association between salivary oxidative stress markers and the risk of vascular disease (VD) in T2DM patients. Materials and Methods: One hundred T2DM patients and fifty apparently healthy males were enrolled in this study. Saliva sample was collected for assessment of oxidative stress markers including: lipid peroxidation plasma thiobarbituric acid-reactive substances (TBARS), uric acid (UA) and total antioxidant capacity (TAC) levels. Arterial stiffness index (ASI
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