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: Prostatic adenocarcinoma is the most widely recognized malignancy in men and the second cause of cancer-related mortality encountered in male patients after lung cancer.
Aim of the study: To assess the diagnostic value of diffusion weighted imaging (DWI) and its quantitative measurement, apparent diffusion coefficient (ADC), in the identification and localization of prostatic cancer compared with T2 weighted image sequence (T2WI).
Type of the study: a prospective analytic study
Patients and methods: forty-one male patients with suspected prostatic cancer were examined by pelvic MRI at the MRI department of the Oncology Teaching Hospital/Medical City in Baghdad
... Show MoreBackground In rheumatoid arthritis, your immune system attacks the tissue lining the joints on both sides of your body. Other parts of the body may also be affected. Unsure of the exact cause. Two separate genes termed IL12A (p35) and IL12 encode the heterodimeric cytokine known as IL12 (p40). Several different hematopoietic cell types can have several different hematopoietic cell types that can generate antigen-presenting cells (APCs), including DCs and macrophages. Objectives This study aimed to investigate if the interleukin IL-12B gene's common polymorphisms in an Iraqi population were associated with RA. Material and methods Blood samples were taken from 70 Iraqi patients with RA illnesses and 30 Iraqi controls during the periods from
... Show MoreChronic Hepatitis B(CHB) is a serious sequel after Hepatitis B Virus infection, although the rate of chronicity is inverse with age but it may be associated with a significant proportion of deaths related to cirrhosis and liver cancer. HBV serology and measurement of hepatocytic enzymes with viral load can predict disease prognosis and response to treatment. HBeAg refers to a high viral replication and associated with more infectivity to others. This study aimed to determine the impact of HBeAg status in chronically infected patients on various baseline tests. A total of 90 patients with CHB infection who were included in this study. Several standardized measures used for liver function tests, viral load and hepatitis B serological
... Show MoreBackground Many countries recommend the use of long-acting reversible contraceptive intrauterine device immediately after cesarean delivery. The cesarean delivery rate in Iraqi public hospitals is 32.2% and may reach 85.8% in private hospitals. Immediate post-partum intrauterine device insertion at cesarean is rarely done in Iraq. Objectives To assess the safety and practicality of immediate post-partum intrauterine device insertion during cesarean delivery for family planning and pregnancy spacing in Iraqi women. Subjects and Methods A single arm clinical trial included 150 eligible women who attended Al-Elwiyah Maternity Teaching Hospital or Al Hayat Rahibat Hospital for term delivery. A copper intrauterine device was placed in the ute
... Show MoreThe use of antibiotics (AB) in surgery focused in either treating established infection or to prevent suspected post-operative infection. Inappropriate use of antibiotic for treatment of patients with common infections is a major problem worldwide, with great implications with regards to cost of treatment and development of resistance to the antimicrobial agent. Moreover, antibiotics may often be dispensed without a clear clinical indication. This study was conducted to estimate the medication errors in using antibiotic for surgery patients which may effect their wound healing. A 260 patients with clean-contaminated and contaminated surgery were included from two teaching hospitals, 160 patient from Medical city hospital and 100 from Al-
... Show MoreThe use of antibiotics (AB) in surgery focused in either treating established infection or to prevent suspected post-operative infection. Inappropriate use of antibiotic for treatment of patients with common infections is a major problem worldwide, with great implications with regards to cost of treatment and development of resistance to the antimicrobial agent. Moreover, antibiotics may often be dispensed without a clear clinical indication. This study was conducted to estimate the medication errors in using antibiotic for surgery patients which may effect their wound healing. A 260 patients with clean-contaminated and contaminated surgery were included from two teaching hospitals, 160 patient from Medical city hospital and 100 fro
... Show MorePsoriasis is a dermatological, chronic, immune-mediated condition. Psoriasis symptoms are not associated with physical burden only, but it may also have psychosocial effects on patients, diminished cognitive control, poor body image and impairments in everyday life. The value of quality of life is important since improving it is the principal goal for non-curative disease. The aim of the current study was to evaluate quality of life in a sample of Iraqi patients with psoriasis. This study is a cross-sectional study that involved 300 already diagnosed psoriasis patients who attended to the center of Dermatology and Venereology, Medical City/Baghdad. The mean age of patients was (35.156 ±10.549 years). The Arabic version of Dermatology Li
... Show MoreThis research deals with an important grammatical section of the Qur'anic grammar, which is the working names the work of acts in the Quranic grammar in the studies of Iraqi researchers from 1968 to 200 AD.
The study of working names working verb in the Koran of the important studies, especially among Iraqi researchers, the Iraqi researcher has presented detailed studies related to working names particles action verb in the Koran, and my research is studying this important grammatical section of the Koranic grammar, which is the working names working verb in The Holy Quran in the books of Iraqi researchers and their theses from 1968-2000. I studied in the preface working names of the act, and what the Iraqi res
The research statement to the amount of the contribution of information and communication technology in the quality of tourism and hotel services, and determine the relationship between the impact of information and communication and the quality of tourism services technology, The importance of the research is to establish the philosophical thinking of the nature of variables, as a modern administrative terminology and employ them towards the quality of tourism and hotel services, the research dealt with a problem expressed by a number of intellectual and practical questions, Was formulated based on the current situation witnessed by the tourism sector and hotel in Iraq, and the real gap was the lack of awareness of the impo
... Show More