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.
Multiple single-nucleotide polymorphisms (SNPs) located in the intergenic region between estrogen receptor 1 and
To assess the potential association between rs3757318 SNP and breast cancer pathogenicity, specifically in relation to serum vitam
Colorectal cancer (CRC), the second most fatal cancer and the 3rd most common cancer is expected to cause 0.9 million deaths globally in 2025. Carcinoembryonic antigen (CEA) is currently used in the follow-up of patients with colorectal cancer, and in this study, we are trying to find a better marker than CEA in following up on patients' health and knowing the effectiveness of the treatment used and as a diagnostic marker for colorectal cancer. To determine the significance of Cancer antigen 72-4 (CA72-4) as a prognosis predictor in patients with colorectal cancer, compare its prognostic validity to the CEA biomarker. this case-control study includes (150) participants, 100 patients (59 males and 41 females), and 50 healthy controls
... Show MoreIn the framework of this study, the phenomenon of transfer is probed pragma-linguistically and socio-linguistically concerning marriage situations among Iraqi EFL learners. The study also strives to look at the refusal strategies most commonly employed by Iraqi female English as a foreign Language (EFL) learners compared to their counterparts, American native speakers of English. The study involved 70 female participants who answered a Discourse Completion Task (DCT), which contained ten marriage proposals to be refused. Each situation entailed refusal of a person from a higher, an equal, and lower status. The researchers adapted Beebe, Takahashi, and Uliss Weltz’s (1990) taxonomy of refusal for analyzing the data comprehensively.
... Show MoreThis research aims to address the most recent international standard in the field of insurance contracts, the International Financial Reporting Standard (IFRS17) and the theoretical framework of the standard in addition to the most important characteristics of the standard (IFRS17), as well as to identify the paragraphs of the modern standard, with the challenges its application in general and the use of the approach (inputs - operations - outputs) to present the challenges of its application in the Iraqi environment and specifically in the environment of Iraqi insurance sector companies (government), the research is based on the main premise that the identification of the requirements for the application of the International Fin
... Show MoreAsphaltene is a component class that may precipitate from petroleum as a highly viscous and sticky material that is likely to cause deposition problems in a reservoir, in production well, transportation, and in process plants. It is more important to locate the asphaltene precipitation conditions (precipitation pressure and temperature) before the occurring problem of asphaltene deposition to prevent it and eliminate the burden of high treatment costs of this problem if it happens. There are different models which are used in this flow assurance problem (asphaltene precipitation and deposition problem) and these models depend on experimental testing of asphaltene properties. In this study, the used model was equation of
... Show MoreThe most common cause of acquired thyroid dysfunction is autoimmune thyroid disease (AITD), which most commonly manifests as Hashimoto's thyroiditis (HT) or Graves' disease (GD). The importance of vitamin D (vit D) as an immune modulator has recently been emphasized in several types of disorders. However, its significance in thyroid illnesses is not fully understood. The purpose of this study is to investigate how vitamin D affects the pathophysiology of hyperthyroidism and hypothyroidism in Iraqi women. One hundred Iraqi women with age ranged from 18 to 60 years participate in this research, 50 of them were hypothyroidism patients, 30 were hyperthyroidism patients and the other 20 were euthyroidism served as controls. Blood samples
... Show MoreOne of the most opportunistic mycosis globally is the Candida ssp., which is considered as the most agent that cause nosocomial urinary tract infections (UTIs), oral candidiasis and genitourinary candidiasis. This study included 100 samples of Iraqi subjects suffering from urinary tract infections. Identification of Candida have been done by different methods such as; characteristic of colony on culture, gram stain, and microscopically. This study aimed to isolation and identification of Candida spp from urine sample of UTI patients and find the relevance of ages and blood group of patients with the infections rate, also determine the effect of age on ESR and CRP levels in the patients. The results showed the higher frequency of
... Show MoreThis study aimed to investigate the impact of implementing Glycetin by injection on the productive features of local Iraqi chickens. 100 female hens and 20 roosters from a local Iraqi chicken population, at age 26 weeks. The sample was divided into three groups, in addition to a control group. Each experimental group had 25 female hens, with the same procedure being performed for each individual hen, and 20 roosters, which were reared separately for the purpose of artificial insemination. The avian specimens were housed in separate enclosures, and the experimental conditions were allocated as follows: the initial condition (Control Group) did not receive any injections, whereas condit
Controlling cost in construction projects is an essential issue. This study investigates the most critical problems that cause weakness in cost control in Iraqi construction projects. The quantitative technique was used by conducting a survey directed to professionals who work on construction projects. One hundred and sixty-four questionnaire forms were distributed to private sector companies, government companies, and government institutions, and the responses were subjected to the required statistical analysis. The results indicate that the most influential factors are the weakness in keeping up with the use of modern concepts, methods, and technologies, the delay in receiving the amounts due for work done from the owner, fluctuat
... Show MoreRheumatoid arthritis is a worldwide inflammatory chronic autoimmune disease with varying severity. Due to no definitive cure for this disease, current therapies aim to decrease the pain and slow further damage. The interleukin (IL)‐36 cytokine was little known for its role in rheumatoid arthritis; this research aimed to evaluate the serum IL36 levels in RA patients compared to healthy controls. This study included 80 patients with rheumatoid arthritis registered at the Rheumatology Clinic in Baghdad teaching hospital. The patients were divided into three groups based on the treatments received. Group 1 included patients treated with biological therapy (etanercept, adalimumab), Group2 patients with non-biological treatment (methotr
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