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.
داء المشوكات الكيسي (CE) هو مرض وبائي يسبب مرضًا خطيرًا وخسائر اقتصادية في معظم بلدان العالم. MiRNAs هي عامل جيني ضروري لتنظيم الاستجابة المناعية من خلال قدرته على التدخل في التعبير الخلوي ؛ واحد هذه الحوامض النووية الدقيقة -146 أ. هدفت الدراسة الحالية تقييم إذا كان بإمكاننا استخدام microRNA 146a كمؤشر حيوي للكشف عن CEو تحديد العلاقة بين التعبير الجيني microRNA 146a و IL-17 في مرضى CE.حيث اشتملت الدراسة على 50 مريضًا من CE تم إد
... Show MoreA total of 116 males with primary infertility and 32 fertile males (normozoospermia;
NOR) were studied to evaluate parameters of seminal fluid analysis. Based on WHO criteria
of 2010 for general seminal fluid analysis, the patients were distributed into three groups: 32
azoospermic (AZO), 40 oligozoospermic (OLI) and 44 asthenozoospermic (AST) patients.
AZO and OLI patients and NOR shared an approximated mean of seminal fluid volume (2.25,
2.75 and 2.50 ml, respectively), while it was significantly increased (3.58 ml) in AST patients.
In NOR men, the spermatozoa concentration was 65.13 x 10
6
spermatozoa/ml, while it was
significantly decreased in AST (51.42 x 10
6
spermatozoa/ml) and OLI (5.58 x 10
The Child's theatre was and still is the most investing art for masks of all kinds (partial and total) for suspense, aesthetic and artistic purposes that meet the requirements of those performances. Here the actor's performance is associated with two tools, i.e. the body and the mask, where it has become a must to search for the performance transformations required in order to achieve the highest level of the right performance through this dualism. This urged the researcher to address this problem. Thus, the researcher has put forward an objective to identify the transformations of the character's performance between the body and the mask in the child's theatre shows. The research consists of a methodological framework and a theoretical
... Show MoreThis study was carried out to determine the effects of NaCl (0.00, 50, 100, 150, 180 or 200) mM and two different types of mutagens chemical mutagen ethyl methyl sulphonate (EMS) at 0.5% and physical mutagen UV-B irradiation (40 min time exposure), on mitotic division in two Iraqi rice genotypes Amber 33 (A33) and Amber Baghdad (AB). Different concentrations of NaCl were used. Mitotic index (MI %) was decreased significantly by increasing NaCl concentration, however the highest mitotic index was recorded in mutated genotypes with EMS and UV-B. Different abnormal chromosomes were noticed in mutated plants. Results showed high percentage of abnormal chromosomes in EMS mutated genotypes. In addition no significant differences between genotypes
... 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 MoreThe role of the ABC system in determining the costs of services in Iraqi banks