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: Enteric fever caused by Salmonella Typhi is an endemic disease in Iraq. Variations in presentations make it a diagnostic challenge. If untreated or treated inappropriately then it is a serious disease with potentially life-threatening complications. The recent emergence of drug resistant strains of S. Typhi is a rising public health problem and a clinical concern to the physician. AIM: The objectives of the study were to assess and describe the patterns of antimicrobial resistance, clinical characteristics, epidemiological distribution, and complications of typhoid fever. PATIENTS AND METHODS: Fifty cases of typhoid fever (culture proven) were collected during the period from February 2019 to November 2019 in the me
... Show MoreTopic management is the awareness of how speakers deal with initiating, developing, changing, and ending a topic and how they fix the relationship when a misunderstanding occurs. It is such an important unit of conversation as it includes the transition from one strategy to the other to be accomplished in a systematic and orderly manner. These strategies are impaired in dementia patients thus lead to communication breakdown. This study aims at detecting the dementia patients' topic management strategies in selected speeches and answering the questions of which of these strategies are fully or partially detected in these speeches. The researchers use a qualitative method to examine the speeches of those patients and they adopt an eclectic
... Show MoreAn analytical and clinical study has been applied for measure the bioavailability of Zinc in serum of twenty adults healthy volunteers, using flame atomic absorption spectrophotometer (FAAS) at 213.9 nm. The calibration graph is linear in the ranges of 0.25-1.5 μg.mL-1 with correlation coefficient (R) 0.09996)μg.mL1-and molar absorpitivites 22957.76(L.mol1-cm-1.The concentration of Zinc determined in serum of all volunteers before and after administered orally a tablet of 50 mg zinc sulphate, produced by Samara drugs company (SDI). All data were subjected to statistical analysis by calculating accuracy, precision in addition to other parameters. The results indicate that the average maximum concentration (C-max ± SD) of blood zinc was 0.
... Show MoreIn this study, genetic algorithm was used to predict the reaction kinetics of Iraqi heavy naphtha catalytic reforming process located in Al-Doura refinery in Baghdad. One-dimensional steady state model was derived to describe commercial catalytic reforming unit consisting of four catalytic reforming reactors in series process.
The experimental information (Reformate composition and output temperature) for each four reactors collected at different operating conditions was used to predict the parameters of the proposed kinetic model. The kinetic model involving 24 components, 1 to 11 carbon atoms for paraffins and 6 to 11 carbon atom for naphthenes and aromatics with 71 reactions. The pre-exponential Arrhenius constants and a
... Show MoreBackground: Investigating dental health knowledge among children is important. Knowing what behaviors are right in relation to dental health does not guarantee that children will practice those behaviors. However, lack of knowledge and misconceptions about dental health may lead to behaviors that are harmful to teeth and gum. Baseline data on knowledge levels are required to determine which particular areas of dental health education are in need of improvement for high-risk children living in different geographical areas. This research was conducted to study the oral health status, dental knowledge and behavior in relation to two different cities, among children in Baghdad and Thamar (republic of Yemen) governorate. Materia
... Show MoreThis comprehensive review examines the efficacy and safety of tumor necrosis factor-alpha (TNF-α) inhibitors in treating various autoimmune diseases, and focuses on their application in Iraqi patients. Elevated TNF-α levels are linked to autoimmune disorders, leading to the development of anti-TNF-α therapies such as infliximab, etanercept, adalimumab, certolizumab pegol, and golimumab, which have gained FDA approval for conditions like psoriasis, in¬flammatory bowel disease, ankylosing spondylitis, and rheumatoid arthritis. While these therapies demonstrate sig¬nificant therapeutic benefits, including improved quality of life and disease management, they also carry risks, such as increased susceptibility to infections and pote
... Show MoreGlobally, the COVID-19 pandemic’s development has presented significant societal and economic challenges. The carriers of COVID-19 transmission have also been identified as asymptomatic infected people. Yet, most epidemic models do not consider their impact when accounting for the disease’s indirect transmission. This study suggested and investigated a mathematical model replicating the spread of coronavirus disease among asymptomatic infected people. A study was conducted on every aspect of the system’s solution. The equilibrium points and the basic reproduction number were computed. The endemic equilibrium point and the disease-free equilibrium point had both undergone local stability analyses. A geometric technique was used
... Show MoreBackground: Mondor's disease means superficial thrombophlibitis of the chest wall in human, treatment is entirely symptomatic. Hot, wet dressing and anodynes may be used for pain relief.
Objective: To evaluate the role of systemic and transdermal action of diclofenac (olfen) with respect to the symptom and sign (pain, erythema along the superficial vein), and the use of Doppler ultrasonography which is a colored ultrasound used for assessment of flow of blood in vessels.
Method: The study was performed on 12 cases with Mondor's disease in middle age female patients with the involvement of lnframammary veins in all of the them (commonly affected), 4 cases had reassurance only, 4 cases had reassurance with systemic diclofenac, and th