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.
The study aimed to assess the expression of CD49d and CD26 in newly diagnosed CLL patients and find their correlation with clinical Binet stage, and other clinical parameters. This study was conducted on 51 newly diagnosed CLL patients based on lymphocyte count > 5×109/L and immunophenotyping. The expression of CD49d, and CD26 were investigated using eight-color flow cytometer. The expression of CD49d and CD26 were detected in 56.9 %, 68.8 % of CLL patients, respectively. The correlation between CD49d expression and CD26 expression was statistically significant (p < 0.001) with high concordance rate between them. The positive expression of both CD49d and CD26 had statistically significant association with clinical Binet staging (p < 0.001,
... Show MoreAnkylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. This study was aimed to investigate the relationship between the rs27044 polymorphism in Endoplasmic reticulum aminopeptidase-1 (ERAP-1) with the susceptibility and severity of AS correlated with some biochemical markers such as hematological parameter (Erythrocytes sedimentation rate (ESR)) and immunological parameters (C-reactive protein (CRP), Human leukocyte antigen-B27 (HLA-B27), Interlukin-6 (IL-6) and Interlukin-23 (IL-23)), and oxidative stress parameters (Glutathione (GSH) and Malondialdehyde (MDA)) in a sample of Iraqi population. A total of 60 blood samples were collected from AS patients requited Rhe
... Show MoreThis study included 50 blood serum samples that collected from children with age ranged between 7-12 years. Thirty five samples collected from children with Type 1 Diabetes Mellitus (T1D), and 15 blood serum samples collected from healthy children as a control sample. The polymorphism of IL-4 -590 (C>T) gene, which amplified by using amplification refractory mutation system (ARMS-PCR) was showed high percentage of C allele frequency in T1D patients sample in comparison with T allele frequency, and the C allele revealed as etiological faction with risk by having T1D disease, whereas the T allele showed high frequency from the C allele frequency in control sample, and the T allele revealed as preventive faction from infection by this disease.
... Show MoreType 2 diabetes mellitus(T2DM) is a metabolic disease that is associated with an increased risk for atherosclerosis by 2-4 folds than in non- diabetics. In general population, low IGF-1 has been associated with higher prevalence of cardiovascular disease and mortality .This study aims to find out the relationship between IGF-1 level and other biochemical markers such as Homeostasis Model Assessment insulin resistance(HOMAIR) and Body Mass Index(BMI) in type 2 diabetic patients . This study includes (82) patients (40 females and 42 males) with age range (40-75) years,(34) non obese diabetic patients and (48) obese diabetic patients. The non obese individuals considered
... Show MoreOne of the most common public liver diseases over the world is fatty liver which contain alcoholic and non-alcoholic fatty liver. One-fourth among general population are impact Non-Alcoholic Fatty Liver Disease (NAFLD) in the worldwide.Retinol binding protein 4 (RBP4) is known as an adipokine, mainly synthesized and secreted from the liver and form adipose tissues. RBP4 acts as a transporter and specifically bound to retinol from liver to others tissues. Visfatin is an adipocytokine and mainly produced from visceral fat tissue, skeletal muscles as well as liver. Vitamin A absorbed, transported as retinyl esters to the liver then hydrolyzed to the retinol form and storage in hepatic stellate cells (HSCs) after reesterified with rigly
... Show MoreAbstractBackground:Reduced glomeular filtration rate isassociated with increasedmorbidity in patientswith coronary arterydisease.Objectives :To analyze the declining eGFR andmortality risks in a patients with Chronic KidneyDisease and have had Coronary Artery Diseaseincluding risk factors .Patientsand Methods:The study included (160)patientsbetween the ages of 16 and 87years.Glomerular filtration rate was estimated (eGFR)using the Modification of Diet in Renal Diseaseequationand was categorized in the ranges<60 mL· min−1 per 1.73 m2and≥ 60 ml/min/1.73 m2.Baseline risk factors were analyzed by category ofeGFR,.The studied patients in emergencydepartment, were investigatedusing Coxproportional hazard models adjusting for traditiona
... Show MoreThe high mobility group A1 gene (HMGA1) rs139876191 variant has been related to metabolic syndrome and type 2 diabetes, but data are lacking in Middle Eastern populations. The study aimed to assess whether the HMGA1 rs139876191 variant is associated with metabolic syndrome risk and whether this variant predicts the risk of insulin resistance. This case-control study was carried out at single center in Kirkuk city/ Iraq from February to August 2022. Polymorphisms in HMGA1 and genotyping were identified by Sanger sequencing of genomic DNA obtained from 91 Iraqi participants (61 patients with metabolic syndrome and 30 control). Lipid profile, serum (glucose and insulin), glycated hemoglobin, blood pressure, body mass index, and waist circumfer
... Show MoreThis study designed to examine association between-174G/C polymorphism of interleukin-6 gene and phosphate, calcium, vitamin D3, and parathyroid hormone levels in Iraqi patient with chronic kidney disease on maintenance hemodialysis. Seventy chronic renal failure patients (patients group) and 20 healthy subjects (control group) were genotyped for interleukin-6 polymorphism and genotyping was performed by conventional polymerase chain reaction-restriction fragment length polymorphism. No significant differences in phosphate levels were observed in patients and control with different interleukin-6 genotypes. Control had non-significant differences in calcium levels, while patients with GG and CG genotypes displayed significant e
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