البحوث الخاصة بالتدريسي علاء عباس فاضل

قائمة البحوث
  • عنوان البحث : Assessment of some serum tumor and physiological markers in Beta-Thalassemia major patients in Baghdad province

    ملخص البحث :

    Thalassemia major is caused by a mutation in the beta globin gene that impair the production of beta globin chain. There is increased survival of patients with beta thalassemia major due to effective chelating treatment also safe blood transfusion system. This leads to increase to have hepatocellular possibility. In this study 47 patients with beta thalassemia major were randomly selected and Hemoglobin (Hb), White blood cell (WBC), platelets, ferritin level and tumor markers alpha-fetoprotein (AFP) and carcinoembryonic antigen (CEA) were investigated. The results indicated there is a positive correlation of serum ferritin with age of patients and only 4 of them have high AFP while for CEA 5 patients have high level. Inconclusion, patients with beta thalassemia with duration time more than 10 years should check these tumor markers to avoid any consequences in the future.
    • سنة النشر : 2022
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Selective nano-sensing approach for the determination of inorganic phosphate in human urine samples

    ملخص البحث :

    A novel sensing approach is presented for the analysis of phosphate ions in human urine samples. The new sensor is based on the fluorescence energy transfer between a luminescent probe ([Tb-EDTA]−1) and gold nanoparticles capped with a cetyltrimethylammonium bromide (Au NPs-CTAB). The strong affinity between CTAB receptors and phosphate ions results in a highly selective assay with minimum sample preparation steps. Possible chemical interference is monitored on real-time basis via luminescence lifetime analysis. The simplicity of analysis and the competitive limit of detection in the micro-molar concentration range provide a well-suited approach for routine monitoring of phosphate ions in numerous urine samples.
    • سنة النشر : 2017
    • تصنيف البحث : clarivate
    • تحميل

  • عنوان البحث : Pegylated and nanoparticle-conjugated sulfonium salt photo triggers necrotic cell death

    ملخص البحث :

    Photodynamic therapy (PDT) processes involving the production of singletoxygen face the issue of oxygen concentration dependency. Despite high oxygen delivery,a variety of properties related to metabolism and vascular morphology in cancer cells resultin hypoxic environments, resulting in limited effectiveness of such therapies. An alternativeoxygen-independent agent whose cell cytotoxicity can be remotely controlled by light mayallow access to treatment of hypoxic tumors. Toward that end, we developed and tested bothpolyethylene glycol (PEG)-functionalized and hydrophilic silica nanoparticle (SiNP)-enrichedphotoacid generator (PAG) as a nontraditional PDT agent to effectively induce necrotic celldeath in HCT-116 cells. Already known for applications in lithography and cationic polymerization, our developed oxygen-independent PDT, whether free or highly monodispersed onSiNPs, generates acid when a one-photon (1P) or two-photon (2P) excitation source is used,thus potentially permitting deep tissue treatment. Our study shows that when conjugated toSiNPs with protruding amine functionalities (SiNP–PAG9), such atypical PDT agents can beeffectively delivered into HCT-116 cells and compartmentalize exclusively in lysosomes andendosomes. Loss of cell adhesion and cell swelling are detected when an excitation source isapplied, suggesting that SiNP–PAG9, when excited via near-infrared 2P absorption (a subjectof future investigation), can be used as a delivery system to selectively induce cell death inoxygen-deprived optically thick tissue.
    • سنة النشر : 2016
    • تصنيف البحث : clarivate
    • تحميل

  • عنوان البحث : Endocrine disrupting Bisphenol A detection in different water samples in Iraq

    ملخص البحث :

    Poly-carbonate plastics containing endocrine disruptor BPA (Bisphenol A), it have been used in the production process of water bottles, food products containers to storage, infants feeding milk bottles and raw material for some medical supplies. Trace quantity of bisphenol has been measured in water-samples that kept in poly-carbonate containers. It has been recognized that bisphenol a can be generated from poly-carbonate containers and then transfer into stored food. Such transfer is accelerated by leaving the containers in sunlight for long time. In this study a simple and rapid method was established to quantify BPA using high performance liquid chromatography (HPLC) in water samples in Al-Diwaniah city, Iraq. The chromatographic HPLC separation includes, extraction then detection of BPA using C18 as a HPLC column, followed by quantitative determination BPA using pre-measured known concentration as a standard. The analysis method shows a recovery value around 85% ± 2.9. A suitable sensitivity value was obtained with an instrumental limit of detection and quantification (LOD and LOQ) ranged from 33 to 72 µgL-1 . The detection of BPA was effectively achieved using homemade and commercially supplied samples. The obtained numbers were inside the allowable concentration
    • سنة النشر : 2019
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Correlation of Glycated Hemoglobin (Hba1c) and Serum Uric Acid in Type-2 Diabetic Patients

    ملخص البحث :

    Type-2 diabetes mellitus (DM) is a metabolic disorder identified as chronic hyperglycemia with disturbance of carbohydrate, protein and fat caused by defects in insulin action and/or secretion. This study was designed to determine the relationship between glycated hemoglobin (HbA1c) and serum uric acid (SUA) for type-2 diabetic patients. the study was performed on forty-eight patients (58±14 years old) and thirty-nine healthy individuals matched the sex, and age with patients (control group). Fasting blood samples were collected from both groups. Fasting blood sugar (FBS), SUA concentration, HbA1c level, total protein (TP), cholesterol, and triglyceride (TG) were measured and investigated. The obtained results showed that there is a significant positive correlation (r=+ 0.103, p= 0.04) between HbA1c and SUA for patients group. As well as significant positive correlations with FBS (r=+ 0.410), TG (r=+ 0.305), TP (r=+ 0.322), and cholesterol (r=+ 0.23). Comparison study was also performed between patients and healthy subjects and the results showed a significant elevation for SUA, TG, cholesterol, TP, FSB, and HbA1c for the patients in type-2 diabetes compared with healthy subjects. The current study confirms serum uric acid level acts as a biomarker of blood glucose and has an adverse effect on glycemic control in type-2 diabetic patients.
    • سنة النشر : 2019
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Synthesis and characterization of a New Schiff base ligand type N2O2 and their Cobalt (II), Nickel (II), Copper (II), and Zinc (II) complexes

    ملخص البحث :

    New schiff base bis (salicylidene) tetramethylbenzidine (bstmb) was prepared via the condensation of salicylaldehyde with 3, 3-, 5,5--tetramethylbenzidine in an ethanol solution. Four complexes were prepared by reaction of schiff base with metal acetat where m(ii),[co, ni, cu, and zn]. The schiff base ligand and their complexes were characterized by using infrared, 1h nmr spectroscopy, uv-visible spectra, solubility, melting point, (c.h.n) analysis, and molar conductance. The potentiometer analysis of the metal complexes revealed 1:1 (schiff base: metal particle) stoichiometry.
    • سنة النشر : 2019
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Detection of inorganic phosphor in environmental water samples using a lanthanide and nanoparticle chemosensor based on Fӧrster resonance energy transfer

    ملخص البحث :

    A novel chemosensor is presented for the detection of inorganic phosphate (Pi) in environmental water samples. The sensing solution is comprised of terbium (Tb3+) chelated to ethylenediaminetetraacetic acid (EDTA) acid and cetyltrimethylammonium bromide (CTAB)-capped gold nanoparticles (Au NPs). Upon mixing, Tb-EDTA and Au NPs undergo Fӧrster resonance energy transfer (FRET) in which the luminescence from the lanthanide ion is quenched. Upon the addition of Pi, Au NPs aggregate and precipitate out of solution. The aggregation of Au NPs results in the restoration of the Tb-EDTA luminescence signal, which correlates linearly to the Pi concentration in the matrix of analysis. The limit of detection (LOD) of the luminescence sensor (83 ng·mL−1) is within the range of LODs previously reported for on-site monitoring of Pi. Quantitative analysis carried out via the multiple standard additions method provides accurate determination of Pi concentrations in heavily contaminated environmental waters.
    • سنة النشر : 2019
    • تصنيف البحث : clarivate
    • تحميل

  • عنوان البحث : Chronic Myeloid Leukemia: A retrospective study of clinical and pathological features

    ملخص البحث :

    Chronic myeloid leukemia (CML), is one of the myeloproliferative disorders with a characteristic cytogenetic abnormality resulting in the BCR-ABL fusion gene. Imatinib Mesylate is an effective agent for treating patients in all stages of CML. According to the annual Iraqi cancer registry 2019, the total number of chronic myeloproliferative disorders was 338. The percentage and incidence rates were 0.94% and 0.86%, respectively, with a higher incidence rate in males than females (1.12 in males and 0.60 in females). In this registry, no details about CML, so this study aimed to estimate the number of CML patients who attended the national center of hematology from 2005 until 2020 and investigate their epidemiological and clinic-pathological data. All data were obtained from the National Center of Hematology /Baghdad. Data regarding annual admission, number of deaths, and information about age, regions, and sex, were collected from patient cards. Interview and history taking from the patient and reviewing their clinical features at diagnosis were performed, and then statistical analysis was achieved. Two hundred sixteen patients were registered as CML; among them, 163 are still alive, while 53 died. The mean age at diagnosis was 40.39 ±14.30, with a male-to-female ratio of 1:1.16. The pediatrics age group comprises 3.7% of total cases and 1.8 % and 9.4% in the alive and dead groups, respectively. The percentages of death were higher in the pediatric age group, 62,5%( 5 /8), followed by the patient group who were ≥60 years, 42.1%(8/19), while it was the least in adults < 60 years, 21.1% (40/189). In conclusion, the studied patients with CML were younger than the globally reported ages at diagnosis, with predominant female patients. Females had better survival, while children and the elderly were the worse. Most patients were symptomatic at diagnosis; however, a good outcome is achieved when treated with IM.
    • سنة النشر : 2022
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Potential effects of hypoglycemic and non-steroidal anti-inflammatory drugs on breast cancer (Mcf-7) cell line

    ملخص البحث :

    Breast cancer represents the most common non-cutaneous cancer and the second disease leading to cancer death for women in the world. Anti-diabetic and NSAIDs drugs have become as potential chemo preventive agents. This study is attentive to investigate the impact of metformin as oral hypoglycemic drug on breast cancer call lines as well as the effect of NSAIDS namely aspirin and ketorolac separately and compared the outcome. In vitro method was used to investigate the influence of metformin, aspirin and ketorolac on human breast cancer cells lines MCF7 and HBL100 cell lines as normal breast tissue and both maintain with minimal essential media. The results showed 0.0025 g/ ml of aspirin inhibits significantly viability of MCF7 cell line 14.3% compared with HBL100 cell line (represents normal breast tissue )91% viable cells. In metformin cell viability 48% in MCF7 cell line at 2 mg/ml in comparison with HBL100 cell line with same concentration to be 89% availability. In case of ketorolac is only effective at high concentration of 15mg /ml which clinically not applicable. The obtained results might be useful to treat and prevent reoccurrence breast cancer with women at high risk especially aspirin drug.
    • سنة النشر : 2020
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Biochemical Investigation in Blood Serum of Female Patients in Type-2 Diabetes

    ملخص البحث :

    Type-2 diabetes mellitus (DM) is considered as a chronic defect of glucose metabolism linked to deficiency of insulin or and resistance to the insulin action. This cross-section study includes forty-three female patients in type-2DM (50  7 years old), with diabetes duration of104 years and thirty-six healthy subjects matched in the age and sex with patients as control. Fasting blood specimens were collected from both patients and healthy control. Serum blood level of zinc, magnesium, manganese, triglyceride (Tg), total cholesterol (Tc), alanine amino transferase (ALT), and -glutamyl transpeptidase (GGT) were evaluated and investigated. The results indicated that there is a significant decrease in Zn, Mg, and Mn serum concentration levels in female type-2 DM compared to control group (p  0.05) which supports the close association of the above elements with glucose metabolism. Serum triglyceride (Tg), and total cholesterol (Tc) levels were significantly higher compared with the healthy control subjects (p  0.05). while the results concerning to liver enzymes showed significant elevation in the mean level of ALT and GGT enzymes in compared with healthy subjects. The achieved results might be functioned as predictors for coronary heart disease and suggest that the measurement of serum liver enzymes could be signed as a biomarker for type-2 diabetes mellitus disease.
    • سنة النشر : 2018
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Potential effect of Imatinib on some sex hormones for male patients of Chronic Myelogenous Leukemia in Baghdad province

    ملخص البحث :

    : Imatinib Mesylate is an oral chemotherapy drug that has been used to treat Chronic Myelogenous Leukemia (CML). It works as an inhibitor of oncogene tyrosine kinase BCR-ABLI as a target therapeutic agent. Despite the drug is well tolerated in most patients, impaired testosterone production and Gynecomastia after therapy might happen. The current study aims to evaluate the impact of Imatinib Mesylate on sex hormones of CML male patients in Baghdad province. Blood specimens were collected from (42) CML patients aged 23 to 68 years who used Imatinib drug for more than two years, and (45) normal persons aged 25 to 65 years as a control group. Exclusion criteria were performed for both control and CML patient's groups, including people with diabetes, hypertensive, and males complaining of infertility after taking medical history for every participant. The blood level of hemoglobin (Hb), white blood cells (WBC), platelet count, testosterone, LH, and FSH were evaluated and investigated. The obtained results showed a significantly lower level of testosterone (2.73+- 0.97) ng/mL than the control group (4.72 ±1.02) ng/mL with a p-value of 0.000. While LH (4.53±2.1) mIU/ mL and FSH (5.12 ± 2.83) mIU/mL were significantly higher than the control group (3.77± 0.8) mIU/mL and (3.85±0.807) mIU/mL with p-value of 0.026 and 0.005 respectively. Moreover, the outcomes revealed a moderate positive correlation (r = +0.348) between LH hormone levels with a duration increasing time of using Imatinib, while platelet showed a moderate negative correlation (r = -0.321) with time-consuming using that drug. In conclusion, Imatinib might harm testis functions and some hematological parameters that could increase using this drug
    • سنة النشر : 2021
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Prostate Specific Antigen As Screening Test a Hospital-Based Study

    ملخص البحث :

    Prostate specific-antigen (PSA) as a biochemical marker (FDA approved) was used for early detection and monitoring of prostate cancer for males. Because of the low incidence of prostate cancer in Arab males 3 per 100000, a hospitalbased study was chosen rather than a community-based study to assess the value of PSA in the diagnosis of prostatic disease in Iraqi males. This study included 163 males with ages ranged from 50 to 86 years old and subdivided into four groups. Blood samples were taken from each male and PSA measurements were done using immunometric technique assay based on chemiluminescence method by Roche company model E411. The obtained results revealed a significant difference between (50 – 55) years age group and (56 -60) years age group with P-value ≤ 0.05. Also, there is a significant difference between (61 -65) years and the group of more than 65 years in age with p-value difference between (50 – 55) years age group and (56 -60) years age group with P-value ≤ 0.05. Also, there is a sixamined persons had a normal PSA level according to the age. While about 70% of patients had high level of PSA that needed further investigations. Moreover, the results indicated a positive correlation between age and PSA value (r = +0.195), P ≤ 0.01, which means the chance to get prostate cancer increased when age is increased. From the above data using PSA as a biochemical marker for prostate disease, a hospital-based study is valuable because about 70% of patients had abnormal levels and need further investigations. Also screening tests for (45-49) years age group is recommended.
    • سنة النشر : 2020
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : ASSESSMENT OF SOME BIOCHEMICAL BLOOD ABNORMALITIES FOR LABORS OF DIESEL ELECTRIC GENERATORS

    ملخص البحث :

    Labors at the deiseal power generators are unceasingly exposed to a lot of hazardous and toxic fumes that has the potential to cause many health complications. The main purpose of the current research was to investigate whether there are any alterations or abnormalities for some biochemical aspects in the blood sera among those exposed labors in different locations of Hilla city. The results showed that there are a significant increasing in the average level of Alkaline phosphates(ALP), and Alanine aminotransferase (ALT) enzymes compared with control group. In addition, the studied groups demonstrated that there are decreasing in the average value of total protein while no significant differences were found for uric acid and cholesterol. Furthermore, hemoglobin (Hb) and white blood cells counts were also studied and the outcomes revealed a decreasing in the mean value for both parameters specially when time exposure increased.
    • سنة النشر : 2018
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Assessment of Serum Small Mothers Against Decapentaplegic 2 (SMAD2) in Type 2 Diabetic Patients with Early and Chronic Diabetic Nephropathy

    ملخص البحث :

    Background: Diabetic nephropathy (DN) is one of the most frequent and severe complications of diabetes mellitus and is associated with increased morbidity and mortality in diabetic patients. Transcription factor small mothers against decapentaplegic (Smad) family has key roles in cell fate decision in transmitting extracellular signals to the nucleus through transforming growth factor beta(TGF-β) receptors to activate downstream target gene transcription(Gomes et al., 2021). Smad proteins are a group of molecules that function as intracellular signal transducers downstream of the receptors of the TGF-b superfamily. The goal of this study is to investigate the diagnostic utility of Serum Small Mothers Against Decapentaplegic 2 (SMAD2) as a predictor biomarker in Type 2 Diabetic Patients with Early and Chronic Diabetic Nephropathy. The current study was designed as case control study, involved 120 individuals, 60 patients with type 2 diabetes mellitus (T2DM) group and 60 participants who are apparently healthy was used as control group. The patients group were subdivided into three equal groups according to their urinary albumin to creatinine ratio (ACR): 20 Type 2 Diabetic patients with normoalbuminuria; included patients with urinary albumin to creatinine ratio (uACR) <30 mg/g creatinine, 20 Type 2 Diabetic patients with microalbuminuria; included patients with urinary albumin to creatinine ratio (uACR) = 30-299 mg/g creatinine, Type 2 Diabetic patients with macroalbuminuria; included patients with urinary albumin to creatinine ratio (uACR) more than 300 mg/g. The results of the present study found that the Serum SMAD2 levels in T2DM with macroalbuminuria and in T2DM with microalbuminuria were much higher than T2DM with normoalbuminuria and control groups with highly statistically significant difference (P-value <0.001). Also, serum SMAD2 showed a positive correlation with ACR (r=0.703, P=0.001) and serum creatinine(r=0.673, P=0.001).So SMAD2 revealed a good diagnostic profile with sensitivity 66.70 %, specificity 90 %, positive predictive value (PPV) 91%, negative predictive value (NPV) 39%, and accuracy 63 % at a cutoff value of 2.995 ng/ml. In conclusion, this study revealed the importance of Small Mothers Against Decapentaplegic 2 (SMAD2) as a predictor for early stages of DN in T2DM which is powered by their correlation with albuminuria and it's high specificity and sensitivity through ROC analysis
    • سنة النشر : 2023
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Effect of Season on some Biochemical Components of The Ovarian Follicular Fluid in Local Iraqi Ewes

    ملخص البحث :

    This study was conducted in the technical college of Mussaib / department of Animal Production Techniques to investigate the effect of season on some follicular fluid biochemical parameters in the ovaries of the- . Fifty ovaries were collected from Karbala and Najaf butcheries for two seasons: the first season (August 2021) and the second season (January 2022). Moreover, collected follicles were divided according to their sizes into three groups (first group < 3 mm), (second group 3-5 mm), and (third group > 5mm) The results showed a significant increase (P ≤ 0.01) for protein, glucose, cholesterol, and sodium, and a significant increase (P ≤ 0.05) for calcium in the first season compared to the second season, and the significant increase was (P ≤ 0.05) for potassium in the second season compared to the first season. As for the follicles sizes the result exhibited, there were highly significant differences in the size of the follicles for the first group (< 3 mm ) P≤0.01, as it reached in the first season 8 (32.00%) and in the second season 13 (52.00%) and also found highly significant differences in the size of the follicles for the second group (3-5 mm) 11 (44.00%) in the first season and 6 (24.00%) in the second season (P≤0.01). for the follicles of the third group (> 5mm), there were no significant differences, as it reached 6 (24.00%) in the first season and 6 (24.00%) in the second season. The groups also differed significantly within the same season. The highly significant increase for the second group was (P≤0.01) compared to the rest of the groups within the first season, while in the second season, the high significant increase was for the first group (P≤0.01) compared to the rest of the groups.
    • سنة النشر : 2022
    • تصنيف البحث : other
    • تحميل

  • عنوان البحث : Study of Bax Gene Expression Relationship for Two Different Periods with Follicles Size in Local Iraqi Sheep

    ملخص البحث :

    This research was conducted at Al-Mussaib Technical College/Department of Animal production techniques /Physiology Laboratory in cooperation with Jisser Al-Mussaib Company for Biological research which located in Baghdad / Karrada Dakhla to study and evaluate Bax gene expression and measure the size of the follicles in the ovaries of the Iraqi local sheep. In this study, (50) female genital organs of sheep were collected from Karbala and Najaf butchery for two periods of time: the first period (August 2021) and the second period (January, 2022). Follicle sizes were measured and divided into three categories (<3 mm, 3-5 mm, and >5mm) and a biopsy of tissue was taken from the surface of the ovary for the purpose of Bax gene expression measurement. The obtained results showed a lower relative expression in the first period in comparison with the second period. While for the size of the follicles, the gene expression was the highest in the first category (<3 mm) and then It was followed by the second category (3-5mm) and finally the third category( >5mm).This study clearly indicate an increase in the gene expression of the programmed death gene (Bax gene) during the period of decline in reproductive activity represented by cold days (January) compared to a decrease in gene expression in August, which is a period of reproductive activity, and the reason behind that is the increasing in the activity of reproductive hormones which inversely act with the programmed death genes. As for the size of the follicles, it seems that the increased activity of programmed death genes in the developing small follicles may have come as a result of the increase in errors in the cell divisions of the developing cells as a way to get rid of the abnormal cells.
    • سنة النشر : 2022
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Effects Of Tyrosine Kinase Inhibitors (Nilotinib) On Male Mice Infertility

    ملخص البحث :

    Nilotinib (TasignaTM) a tyrosine kinase inhibitor is used in the treatment of chronic myelogenous leukemia and other tumor entities, this study aims to investigate nilotinib effects on fertility in male albino mice three groups each with 7 male albino mice selected, one control group, and two groups administered with 80mg/kg and 120mg/kg respectively for 3 months and serum levels of testosterone, FSH, and LH were measured by ELISA kits and statistically analyzed. Histological sections from testes prepared and stained with H&E stain and evaluated histopathologically. Statistically significant reduction in the mean of serum testosterone and FSH were seen in treated groups compared with the control group with no significant differences regarding LH concentration; variable histological changes noted in comparison with the control group ranging from mild changes in most cases with more severe atrophic changes in 1 case from the group(2) and 2 cases in a group (3).Our results showed statistically significant changes in testosterone and FSH levels in mice administered with nilotinib with variable deleterious histopathological changes
    • سنة النشر : 2020
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Detection of some virulence factors with Biochemical investigation of Listeria monocytogenes associated with human infections.

    ملخص البحث :

    This study was aimed to detect different virulence genes that might be present in the Listeria monocytogenes. 50 clinical samples were gathered from patients with different sites like (stool, urine and blood). Though, only (22) isolates were contained L.monocytogenes using conventional and traditional techniques. Strains were isolated with the following approach 8 (36%), 6 (27%), and 8 (36%) from human intestine (stool), urine, and blood samples respectively. Virulence genes were detected by using specific PCR primers which include (iap, hly andinl A). The results indicated that four isolates of L. monocytogenes possessed (hly) gene, two from urine strains 2:6 (33%), one from stool 1:8 (13%) and one from blood 1:8 (13%). In addition to that, only three isolates of inlAgave positive amplification where1:8(13%) from stool 1:6(17) from urine and 1:8 (13%) from blood. Moreover, six strains gave positive amplification for japgene where 3:8(38%) from stool and 2:6 (25%) from urine,and one fromblood1:8(13%).
    • سنة النشر : 2018
    • تصنيف البحث : other
    • تحميل

  • عنوان البحث : A reappraisal of Gaucher disease patients - Clinical presentation, and diagnosis in rare disease unit of central child teaching hospital in Baghdad province

    ملخص البحث :

    Introduction and Aim: Gaucher disease (GD) is an autosomal recessive ailment caused due to mutations in the GBA1 gene, encoding for the lysosomal enzyme, glucocerebrosidase. The aim was to evaluate the clinical, biochemical, and molecular parameters associated with this disease, as well as to identify symptoms and covariables thought to be most diagnostic of early GD presentation, allowing for early diagnosis and management. Methodology: This cross-sectional study involved twenty-six patients diagnosed with GD at the Metabolic Department of Central Child Teaching Hospital, Baghdad, Iraq. Diagnosis depended mainly on history and physical examination and confirmed by beta-glucosidase enzyme assay of dry blood spot on filter paper and Lyso-GL-1 level. Amplification-based next generation sequencing approach was used in investigating the GBA1 gene at the molecular level. Results: The mean age of the 26 (17 male and 9 female) patients was 9.13 years, with 100% consanguinity and 50% positive family history. The average number of years from the start of clinical manifestations to the diagnosis' validation was 3.82 years. The original age of presentation was 2.83 years, and the initial age of diagnosis was 6.65 years. Hepatosplenomegaly (85%), pallor (88%), splenomegaly (12%), splenectomy (12%), hemorrhage (19%), bone discomfort (23%), bone breakage (12%), and GD type III (19%) were observed. Among patients 65% exhibited radiological bone abnormalities, 54% had Erlenmeyer flask deformity, and 1.5% had osteopenia and fracture. Studies of GBA1 gene showed the mutation C.[1448T>c ](P.[ Leu483Pro] to be the most common. Hepatosplenomegaly and hematological deficiencies were effectively improved by enzyme replacement therapy. Conclusion: In Gaucher disease, GBA1 gene mutation analysis could provide some predictive information about disease variance as well as severity. PCV%, platelet count, ferritin, and lyso-GL-1 levels could be employed as biomarkers for the diagnosis of GD. ERT proved effective in treating hematological and hepatosplenomegaly abnormalities.
    • سنة النشر : 2023
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : A reappraisal of Gaucher disease patients - Clinical presentation, and diagnosis in rare disease unit of central child teaching hospital in Baghdad

    ملخص البحث :

    Introduction and Aim: Gaucher disease (GD) is an autosomal recessive ailment caused due to mutations in the GBA1 gene, encoding for the lysosomal enzyme, glucocerebrosidase. The aim was to evaluate the clinical, biochemical, and molecular parameters associated with this disease, as well as to identify symptoms and covariables thought to be most diagnostic of early GD presentation, allowing for early diagnosis and management. Methodology: This cross-sectional study involved twenty-six patients diagnosed with GD at the Metabolic Department of Central Child Teaching Hospital, Baghdad, Iraq. Diagnosis depended mainly on history and physical examination and confirmed by beta-glucosidase enzyme assay of dry blood spot on filter paper and Lyso-GL-1 level. Amplification-based next generation sequencing approach was used in investigating the GBA1 gene at the molecular level. Results: The mean age of the 26 (17 male and 9 female) patients was 9.13 years, with 100% consanguinity and 50% positive family history. The average number of years from the start of clinical manifestations to the diagnosis' validation was 3.82 years. The original age of presentation was 2.83 years, and the initial age of diagnosis was 6.65 years. Hepatosplenomegaly (85%), pallor (88%), splenomegaly (12%), splenectomy (12%), hemorrhage (19%), bone discomfort (23%), bone breakage (12%), and GD type III (19%) were observed. Among patients 65% exhibited radiological bone abnormalities, 54% had Erlenmeyer flask deformity, and 1.5% had osteopenia and fracture. Studies of GBA1 gene showed the mutation C.[1448T>c ](P.[ Leu483Pro] to be the most common. Hepatosplenomegaly and hematological deficiencies were effectively improved by enzyme replacement therapy. Conclusion: In Gaucher disease, GBA1 gene mutation analysis could provide some predictive information about disease variance as well as severity. PCV%, platelet count, ferritin, and lyso-GL-1 levels could be employed as biomarkers for the diagnosis of GD. ERT proved effective in treating hematological and hepatosplenomegaly abnormalities.
    • سنة النشر : 2023
    • تصنيف البحث : scopus
    • تحميل

  • عنوان البحث : Impact of growth hormone receptor gene on measurements of dimen-sions and body weights of local Iraqi sheep

    ملخص البحث :

    This research involved a sample of 50 local Iraqi sheep, consisting of 27 males and 23 females, aged between 5 and 17 months. Data collection occurred during two distinct seasonal periods: October 2022 and January 2023. The primary objective was to investigate the variations in the expression of the growth hormone receptor (GHR) and its influence on the physical attributes of local Iraqi sheep within this age range. The results showed that the GHR gene exhibited a marked increase in expression during the second seasonal timeframe with levels of 23.8 ± 0.2 and 29.7 ±1.4 for first period. This increase in gene expression was paralleled by substantial differences in the sheep's body weights, with values of 33.7376±0.732(kg) for the first seasonal period and 35.77±1.111(kg) for the second seasonal period. Similarly, the dressing percentage showed significant differences, with values of 47.71±0.49 (kg) for the first period and 50.11±0.59 (kg) for the second period. Furthermore, carcass weight demonstrated highly statistically significant variations, measuring 16.037±0.440 (kg) during the first seasonal period and 17.978±0.655 (kg) during the second seasonal period. Gender-based analyses revealed significant disparities, with males exhibiting greater weight measurements (kg) (36.764±1.002) compared to females (32.122±806.0). The same trend was observed in carcass weight (18.362±0.606 for males and 15.242±0.369 for females), dressing percentage (49.8±0.0062 for males and 47.8±0.0047 for females), and viscera weight (1.382±0.029 for males and 1.258±0.032 for females). In addition to these findings, body dimension measurements (cm) showed significant differences in lump height, with measurements of 67.81±0.891 in the first period and 64.88±0.717 in the second period. However, non-significant differences were observed in other body dimension measurements. These findings have implications for understanding the genetic factors affecting the growth and development of sheep which can inform breeding and livestock management practices.
    • سنة النشر : 2023
    • تصنيف البحث : other
    • تحميل

  • عنوان البحث : Studying the Influence of gender and seasonal period variations on the Growth Hormone Receptor Gene and other biochemical blood parameters for local sheep

    ملخص البحث :

    his study is aimed to investigate the influence of distinct variation of seasonal periods (October 2022 and January 2023), as well as gender disparities within a cohort of 50 local Iraqi sheep including 27 males and 23 females, aged (5 and 18 months). The primary focus was to establish the impact of these variables on the expression of the growth hormone receptors gene (GHR), growth hormone, thyroxin, and some biochemical components
    • سنة النشر : 2024
    • تصنيف البحث : scopus
    • تحميل