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 severe acute respiratory syndrome coronavirus 2 (SARS-CoV 2) or 2019 novel coronavirus (2019-nCoV) is quickly spreading to the rest of the world, from its origin in Wuhan, Hubei Province, China. And becoming a global pandemic that affects the world's most powerful countries. The goal of this review is to assist scientists, researchers, and others in responding to the current Coronavirus disease (covid-19) is a worldwide public health contingency state. This review discusses current evidence based on recently published studies which is related to the origin of the virus, epidemiology, transmission, diagnosis, treatment, and all studies in Iraq for the effect of covid-19 diseases, as well as provide a reference for future research
... Show MoreIn this paper, a mathematical model consisting of a prey-predator system incorporating infectious disease in the prey has been proposed and analyzed. It is assumed that the predator preys upon the nonrefugees prey only according to the modified Holling type-II functional response. There is a harvesting process from the predator. The existence and uniqueness of the solution in addition to their bounded are discussed. The stability analysis of the model around all possible equilibrium points is investigated. The persistence conditions of the system are established. Local bifurcation analysis in view of the Sotomayor theorem is carried out. Numerical simulation has been applied to investigate the global dynamics and specify the effect
... Show MoreAbstract: The utility of DNA sequencing in diagnosing and prognosis of diseases is vital for assessing the risk of genetic disorders, particularly for asymptomatic individuals with a genetic predisposition. Such diagnostic approaches are integral in guiding health and lifestyle decisions and preparing families with the necessary foreknowledge to anticipate potential genetic abnormalities. The present study explores implementing a define-by-run deep learning (DL) model optimized using the Tree-structured Parzen estimator algorithm to enhance the precision of genetic diagnostic tools. Unlike conventional models, the define-by-run model bolsters accuracy through dynamic adaptation to data during the learning process and iterative optimization
... Show MoreThe fingerprinting DNA method which depends on the unique pattern in this study was employed to detect the hydatid cyst of Echinococcus granulosus and to determine the genetic variation among their strains in different intermediate hosts (cows and sheep). The unique pattern represents the number of amplified bands and their molecular weights with specialized sequences to one sample which different from the other samples. Five hydatitd cysts samples from cows and sheep were collected, genetic analysis for isolated DNA was done using PCR technique and Random Amplified Polymorphic DNA reaction(RAPD) depending on (4) random primers, and the results showed:
... Show MoreObesity is a common disease that resulted from over-nutrition in adults and children. It rarely causes damage to the centers of food in the brain. Obesity is defined as an increased body weight from its natural limit which is resulted from the accumulation of excessive amounts of fatty tissue incredibly up to 20% in males, 30 % in females unless this increase is not due to an increase in muscles as in athletes or accumulation of water in the body which is resulted from Mesothelioma or the magnitude of the skeleton.Obesity is the increase of the total average of fat in the body compared to other tissues, which causes an increasing body weight, thereby increasing body mass. The fatty child has an increase in the stored fatty layer under th
... Show MoreGenetic variation was studied in 22 local and imported samples collected from local Iraqi market by using Single sequence repeat (SSR-PCR). Six primers set were used in this study. These primers produced 33 bands. Molecular weights of these bands ranged between 100 bp to 1500 bp. The number of polymorphic bands is 24, whereas the number of monomorphic bands is 9. The results of Dendrogram of the studied samples depended on SSR-PCR results by using Jaccard coefficient for genetic similarity was distributed the samples into 10 groups. This Dendrogram revealed a higher similarity between Iraqi/Balad green bell pepper and Iraqi/Yousifia green bell pepper with 1 value. This value is the highest between samples in comparison with lowest values (0
... Show MoreBackground. Gene polymorphisms affect etanercept’s pharmacokinetics, pharmacodynamics, and side effects. This effect is evidenced by the extensive genetic variation in the drug’s targets. Objectives. This study aims to find the association between different genotypes of the promoter region of the TNF-α gene at -308G/A(rs1800629), -857C/T(rs1799724), -863 C/A(rs1800630), -1031 T/C (rs1799964), -806 C/T (rs4248158) and -376 G/A (rs1800750) and the side effects of ETN that occurred to Iraqi RA patients. Method. The trial included patients with rheumatoid arthritis who had been using ETN for at least six months. The participants were from the Baghdad Teaching Hospital Rheumatology Unit. The PCR was sequenced to determine the polymo
... Show MoreKE Sharquie, SA Al-Mashhadani, AA Noaimi, WM Katof, THE IRAQI POSTGRADUATE MEDICAL JOURNAL, 2013 - Cited by 6
The study was carried out in plant tissue culture laboratory, University of Baghdad during the period 2017-2019, as factorial experiment in complete randomized design, to study the effect of PEG at (0, 2, 4, 6 and 8%) on physiological and chemical changes in callus of three sunflower (Ishaqi 1, Aqmar and Al-haga) induced by the cultivation of the young stem in vitro under water stress. The content of callus cells of SOD, POD, CAT and APX enzymes as well as total dissolved carbohydrate were determined as indicators to determine the effect of PEG in callus tissue cells cultivated on medium equipped with the PEG concentrations. The results showed that cultivars were differs significantly, and A-haja variety was superior in increasing SOD to 12
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