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: A role for vitamin D deficiency in Parkinson disease (PD) has recently been suggested.
Objective:: To estimate the state of vitamin D in PD with an age-matched healthy control.
Type of the study: A case control study.
Method: The study randomly comparison of plasma 25-hydroxyvitamin D (25[OH] D) concentrations of collected samples in a clinical neurology department ward / Baghdad teaching hospital / Medical City and Parkinson disease movement disorder clinic. Participants were registered into the study from October 2015 to October 2016. We was study serum vitamin D level in 40 consecutive patients with
... Show MoreThe present study was performed to evaluate the level of some risk factors (biochemical and immunological) in hypothyroid Iraqi patients considering the different thyroid functional states (hypothyroidism and subclinical hypothyroidism).The study includes 82 patients clinically diagnosed with hypothyroidism. Three study groups have been investigated: (47 clinical hypothyroid patients, 12 subclinical hypothyroid patients 23 healthy individuals) of different ages. This study, show that the proportion of females (83.3 %), (87.2%) in subclinical and clinical hypothyroidisim respectively higher than the proportion of males (16.7%),(12.8%) in subclinical and clinical hypothyrodism respectively of the total patients.The majority of subclinical hyp
... Show MoreThe aim of the present research is to study different protein fractions in sera of children and adolescent with β –thalassemia major and minor and to compare the results with that of healthy control.One hundred fifty children and adolescents were enrolled in this study,including 50 patients with β- thalassemia major , 50 patients with β- thalassemia minor as pathological control group and another apparently 50 healthy individuals as a control group. The age of all studied groups ranged from (4-18)years.Total protein, albumin and immunoglobulins were estimated in sera of all subjects. A Significant decrease was found in the total protein and albumin&nb
... Show MoreBACKGROUND: Many genetic factors are known to be related to osteoporosis, and currently the role of the glucagon-like peptide-1 receptor (GLP-1R) gene in bone health has been studied intensively. Some variation of this gene, such as rs1042044 and rs6458093, are known to be linked to metabolic diseases and lower bone mineral density, however their specific contribution to osteoporosis remains largely unexplored. Therefore, this study was conducted to investigate the combined genotypic effect of rs1042044 and rs6458093 as a genetic risk factor for osteoporosis in postmenopausal Iraqi women.METHODS: Blood samples from 75 osteoporosis patients and 75 healthy controls, aged 45-85, were collected. DNA was extracted, and a region of GLP-1R
... Show MoreTo determine the relationship between chronic hepatitis B virus and autoimmune celiac disease, seventy five patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared with 50 healthy individuals. All the studied groups were carried out to measure antiGliadin antibodies IgA and IgG by ELISA test and anti-reticulin antibodies IgA and IgG by IFAT. There were significant elevation (P<0.05) in the concentration of AGA IgA and IgG antibodies compared to control group. The prevalence of AGA antibodies IgA and IgG was 8% and 9.33% respectively. There were a highly significant differences (P<0.01) between studies groups. The prevalence of antireticulin antibodies ARA IgA and IgG was 6.67% and 4.0% respectively i
... Show MoreThe expression of the Proprotein Convertase Subtilisin/Kexin Type 9 gene (PCSK9) is inextricably related to lipid levels and a risk of atherosclerotic coronary artery disease (ASCAD). The present study aims to measure the quantity of PCSK9 gene expression and the effect of methylation on its expression level taking part in the pathogenesis of acute coronary artery disorder.
A current study included 150 subjects from the Iraqi population, 100 ASCAD patients and 50 healthy controls. The concentration of PCSK9 in each serum sample was determined by the ELISA technique, the expression levels of the PCSK9 gene in whole blood were estimated by RT-qPCR – Quantitative Reverse Transcription PCR method, and DNA
... Show MoreBackground: Breast cancer is the most common malignancy affecting the Iraqi population and the leading cause of cancer related mortality among Iraqi women. It has been well documented that prognosis of patients depends largely upon the hormone receptor contents and HER-2 over expression of their neoplasm. Recent studies suggest that Triple Positive (TP) tumors, bearing the three markers, tend to exhibit a relatively favorable clinical behavior in which overtreatment is not recommended. Aim: To document the different frequencies of ER/PR/HER2 breast cancer molecular subtypes focusing on the Triple Positive pattern; correlating those with the corresponding clinico-pathological characteristics among a sample of Iraqi patients diagnosed with th
... Show MoreBackground : Hyperglycosylated hCG a newly discovered variant of hCG which can be used as a predictor of invasion of trophoblastic cells in patient with gestational trophoblastic disease. Objectives : To measure hyperglycosylated human chorionic gonadotrophin and to assess how far it can be used as predictor of invasion in invasive mole and choriocarcinoma. Study design control study. Setting: : Case Gynecological department in Baghdad Teaching Hospital from January 2016 to January 2017. Patient and Methods : 60 women were enrolled in this study 30 of them were with gestational trophoblastic disease (no.= 30 ) the remainder were normal pregnancy (no. =30) , hCG –H level was measured in both groups. Results : Mean serum hCG-H le
... Show MoreBackground: Coronary Artery Disease (CAD) is one of the largest causes of mortality worldwide. Clopidogrel, antiplatelet drug, has been widely used for management of CAD. The current study aimed to investigate the effect of clopidogrel on the oxidative stress in CAD patients. Methods: One hundred CAD patients, who were followed-up for 5 days after receiving clopidogrel, and 50 healthy volunteers were included in this study. Parameters include catalase (CAT), total antioxidant capacity (TAC), total oxidant capacity (TOC), total protein, albumin, and globulins were determined before and after treatment with clopidogrel. Results: CAT, TAC, and Tp were significantly decreased (P<0.0001) in CAD patients compared to healthy control and
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