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: Polycystic ovary syndrome (PCOS) has an unknown and complex etiology. It affects 5–10% of women in the reproductive age. Patients are known to have increased ovarian androgen production that is associated with decreased menses, hirsutism, and acne. Urinary tract stones (UTS) are a multifactorial disorder, with age and sex being known risk factors. Many PCOS patients are obese, and links between nephrolithiasis and obesity have been shown previously. Objectives: To identify the relation between PCOS and UTS considering the patients' body mass index (BMI). Methods: This is a cross-sectional study that enrolled 407 women aged 18-40 who attended the gynecology and obstetrics clinic at Al-Elwiya Maternity Teaching Hospital.
... Show MoreIn the contemporary political history of Iraq, a unique protest broke out on October 1st, 2019. This protest reappeared on October 25th and lasted up to the following weeks making this protest as the most comprehensive and deepest one. It has the possibility of lengthening and the diversification of methods among all the social protesting movements during the century for Iraq. This desperate youth movement presents various images and methods to highlight the image of the protesting movement. The role of the Iraqi woman was clear, which was embodied through the mural paintings expressing her artistic and social role in conveying and expressing the goal of the protest. The aim of the current research is to identify the social artistic implica
... Show MoreA comparative study was carried out on ecological and genetical adaptation of three Iraqi
freshwater snails, Physa acuta, Melanopsis buccinoidea and Melanoides tuberculata, in
respect to acute toxicity of heavy metals (Zn, Cd and Hg). Longevity are used as poisoning
tolerance criterion. LT 50 and LT 100 were determined for the studied snails at (0.5, 1, 5, and
10 ppm), for the three metals. Results indicated that Physa acuta had a higher tolerance than
Melanopsis buccinoidea and Melanoides tuberculata, which was the lower one. Previous
exposure to heavy metals in the original habitat was affecting on experimental tolerance and
no relationships of physical and chemical factors (total hardness, temperature, D. O. and
The adrenal gland is a vital endocrine gland that secretes many important hormones in the daily life of birds. It is located in the Iraqi Pterocles alchata bird on both sides of the aorta in the front and side of the cranial lobe of the kidney at the caudal end of the lungs, triangular shape with a creamy yellow color. The statistical analysis showed no significant differences between the weight and length of the right and left glands. Histologically the gland of the sandgrouse bird capsule contains autonomic nodes consisting of nerve cells and the average thickness of the capsule is 42.69±1.81μm, the parenchyma of the gland is divided into two areas; the cortex and medulla in addition to the blood sinuses. The cortex area is divided into
... Show MorePurpose :This study seeks to provide the point of view stands on the marketing performance of the banks in the context of Dynamic Equilibrium of marketing. It aims to develop a prototype of measuring marketing performance under the umbrella of marketing dynamic prototype, embodied of the strategic alliance and competition, and the laws and legislation, and to explore any of the dimensions more effective in achieving performance. This study aims to discusses the importance of the Dynamic Equilibrium of marketing and it role in achieving the marketing performance <
... Show MoreThe research aims to assess the local accounting procedures related in one of developments that have taken place, and largely on the structure of the Iraqi economic activity. But a partnership between the (public and private sector), or one of the types of joint arrangements, and through the use of the analytical method and extrapolate the reality of the accounting treatments in Company research sample. Research found to a number of conclusions that the unified accounting system applied in the economic units that deal with contracting joint arrangements formula suffers from obvious shortcomings, and reflected the common arrangements suffer from obvious shortcomings. and reflected on the quality of financial reporting, and the urgent need
... Show MoreBreast cancer is one of the most important malignant diseases all over the world. The incidence of breast cancer is increasing around the world and it is still the leading cause of cancer mortality An Approximately 1.3 million new cases were diagnosed worldwide last year. With areas rising increasing, risk factors for breast cancer including obesity, early menarche, alcohol and smoking, environmental contamination and reduced or late birth rates become more prevalent. In Iraq, breast cancer ranks first among types of cancers diagnosed in women. This study was conducted on one hundred twenty women with breast cancer that was evaluated and investigated for the possible role of the risk factors on the development of breast cancer in females. T
... Show MoreObjective: Detection the level of YKL-40 biochemical marker and vitamin D level in sera of Iraqi uterine cancer
females' patients.
Methodology: This study included 90 female volunteers, 30 of them were healthy volunteers who were
considered as a control group, while sixty serum samples were collected from women patients suffering from
uterine tumors (30 malignant and 30 fibroid benign tumors), benign cases were considered as a disease
control group for malignant tumors. The average age of those females was 30-75 years, which matched the
control group. All the samples were collected from Azady hospital in Kirkuk and the gynecologic department at
Medical City in Baghdad during October /2012 to May /2013. All the serum
The present research was conducted to investigate the effectiveness of a training program to improve some aspects of sensory integration disorder and its effect on self-direction among a sample of children with intellectual disabilities. The study sample consists of (10 subjects as an experimental group) were exposed to the training program، and the control group consists of (10 subjects as a control group) were not exposed to the training program. The study included the following tools: A scale of self-direction for intellectual disability (prepared by the researcher). Training program (prepared by the researcher). The Results of the study showed the following: There are no statistically significant differences between the means ranks
... Show More