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: Non-nutritive sucking habit (NNSH) is the main environmental causative factor that disturbs normal orofacial development. In spite of the harmful effect of pacifier as a NNSH, mothers aware from the other types of NNSH like thumb sucking far more than pacifier use. Open bite is one of the most challenging malocclusions in orthodontics due to the high prevalence of relapse after treatment, so preventing the causative factor of its occurrence is essential at early age of child life. This study aims to assess the impact of two non-nutritive patterns on the development of anterior open bite in primary dentition and to compare which of these habits mostly affect open bite development. Materials and Methods: The sample consisted of
... Show MoreBackground: Diabetes mellitus (DM) accompanied with an increase in the death rate and represents a significant public health challenge. It is the cause of other disorders and infection in many body organs. Hence, it is important to study the possible changes in the immunological components in the serum of diabetic patients which are not well understood. In this work, serum C3, C4, IgA, IgG, and IgM were estimated in the patients with insulin dependent diabetes mellitus (IDDM) and compared with healthy persons. Patients and Methods: Twenty-one insulin dependent diabetic patients in addition to twenty-four healthy persons as control group were participated in this study. Serum C3, C4, IgA, IgG, and IgM were measured by using immunodiffusio
... Show MoreThe knowledge related with lexical items can be realized as including relations of meaning a cross words. Words that share a similarity of meaning are called to be synonymous, and words that share a contrary of meaning are called to be antonymous. Both of them are universal linguistic phenomenon that exist in terms of linguistic system of every language. The present study aims at finding out areas of difficulty that Iraqi EFL learners encounter in the use of synonymy and antonymy, both on the recognition and production levels. Also tries to detect the main reasons behind such difficulties. A diagnostic test of two parts, namely, recognition and production, is designed. The test is built to include two linguistic phenomenon which are: synony
... Show MoreAcute myeloid leukemia is a malignant disease results from mutation in a multipotent haemopoietic stemcell. The study aimed to investigate NPM1 and FLT3-ITD mutations in Iraqi patients with AML and correlateresults with other clinical and laboratory findings. Fifty-eight AML patients, admitted to Baghdad TeachingHospital from October 2019 till March 2020 in addition to 25 normal controls, were included in the study.A detailed history, laboratory investigations including FLT3-ITD and NPM1 mutations were collected fromand analyzed. FLT3-ITD was detected in 17.24% of patients, NPM1 mutation in 10.34%. Most of thepatients are presented with pallor. FLT3-ITD mutation had a higher blast cell count (74%) while NPM1mutation had higher WBCs
... Show MoreThe current study aimed to identify the morphological description and branches of the bronchial tree and lung for the weasel
Metadiscourse markers are means for organizing a writer’s information and create a connection with her/his readers. When students write, they usually focus on one type of these markers that is the interactive markers and belittling the use of the other type which is the interactional markers. That is to say, they emphasize on presenting and organizing their information only. Therefore, this study is conducted to bridge this gap. The researchers have selected 18 thesis abstracts. Nine of them are written by Iraqi students of English and the rest by American students. The aims of the study are to examine the types and sub-types of metadiscourse markers used by American and Iraqi students; investigate comparatively the impact of the metad
... Show MoreBackground: Osteoarthritis is a complicated, chronic disorder of cartilage and bone, associated with homeostasis of bio-elements. The current study aims to assess the role of serum progranulin levels among Iraqi patients with knee osteoarthritis. Patients and Methods: The study encompassed 50 patients aged 52.50 ± 3.12 years (25 males and 25 females), admitted to the at the Baghdad Medical City through the period from November 2021 to March 2022. All individuals were identified by physicians in a Rheumatology and Rehabilitation Outpatient Clinic and the clinical data was collected along with the assess¬ment of biochemical parameters. Fasting serum glucose, lipid profile, calcium, magnesium, alkaline phosphatase, vitamin D3, and p
... Show MoreBackground: Semen contamination is a detrimental factor in decreasing fertility. Seasonal changes may affect the contamination, too. Objectives: This study was designed to detect semen contamination in ovine and caprine during different seasons. Methods: Six fully mature male sheep and goats were subjected to electro-ejaculator collection twice monthly from February 1, 2022, to January 31, 2023 (Spring, February 1, 2022-April 30, 2022; Summer, May 1, 2022, July 31, 2022; Autumn August 1, 2022, October 31, 2022; Winter November 1, 2022, January 31, 2023), for studying the seasonal effect. A total of 288 semen samples were collected from both species (36 samples from each per season). All samples were subjected to bacterial isolatio
... Show MoreThe body of the actor and its expressive significance is an essential topic in studying acting . it is not only confined to the study of soul and body from philosophical aesthetic perspective , but also to study the conception and mechanism of such a dichotomy followed by theatre directors and theorists , who are highly concerned with the creativity of actors . The researchers believe that such a study would be of benefit for actors as well as others working in theatre .
The study falls into two sections . the first deals with the phi
... Show MoreThis study evaluated the knowledge and practice of breast self-examination (BSE), among a sample of educated Iraqi women. The study sample comprised 858 women aged 18–62 years affiliated to 6 major Iraqi universities, categorized according to occupation as teaching staff (11.5%), administrative staff (18.0%) and students (70.5%). Data were collected by a self-completed questionnaire. In all, 93.9% of the women had heard about BSE, the main source of information was television (39.9%), doctors (18.4%) and the awareness campaign of the Iraqi National Breast Cancer Research Programme (11.6%). Only 53.9% of the women practised BSE; the most common excuses by those that did not were lack of knowledge of the significance of BSE (42.0%) and lack
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