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.
Efficacy of Oregano Essential Oil Mouthwash in Reducing Oral Halitosis: A Randomized, Double-Blind Clinical Trial, Mohamed Saeed M Ali, Ayser Najah Mohammed*
Background: Since the periodontal disease Index of Ramfjord (Ramfjord index) can potentially shorten the examination time by almost half, many studies evaluated Ramfjord teeth in predicting full-mouth periodontal status of an adult population. The aim of this study was to evaluate the benefit of Ramfjord teeth in predicting the full-mouth clinical attachment level of an adult population in patients attending the college of dentistry- Baghdad University. Materials and methods: The study participants were 100 patients with age range from 30-60 years old which represent group zero. The patients were divided into three main groups according to the age of the patients. Group I and group II each of them composed of 30 patients while group III co
... Show MoreThe present research aimed to test the imagination of children, and may build sample consisted of (400) a baby and child, selected by random way of four Directorates (first Resafe, second Resafe ,first alkarkh , second alkarkh), in order to achieve the objective of research the tow researchers have a test of imagination and extract the virtual and honesty plants distinguish paragraphs and paragraphs and difficulty factor became the test consists of (32), statistical methods were used (Pearson correlation coefficient, coefficient of difficult passages, highlight paragraphs, correlation equation, an equation wrong Standard) the tow researchers have a number of recommendations and proposals.
In this research, the focus was on estimating the parameters on (min- Gumbel distribution), using the maximum likelihood method and the Bayes method. The genetic algorithmmethod was employed in estimating the parameters of the maximum likelihood method as well as the Bayes method. The comparison was made using the mean error squares (MSE), where the best estimator is the one who has the least mean squared error. It was noted that the best estimator was (BLG_GE).
Osteoarthritis is the most prevalent arthritic disease and a leading cause of disability. The pathogenesis of osteoarthritis involves multiple etiologies, including variable degree of synovial inflammation. Metformin and pioglitazone could potentially reduce the levels and activity of inflammatory mediators. This may consider as a new therapeutic approach added to the current used drugs in an attempt to decrease the pain, inflammation, and improve daily activity and quality of life in patients with knee osteoarthritis.
This study designed to evaluate the clinical utility of using metformin or pioglitazone as anti-inflammatory agents in combination with non-steroidal anti-inflammatory drugs (NSAID) of selective type of cyclooxygen
... Show MoreBackground:
Multiple sclerosis is a chronic disease believed to be the result of autoimmune disorders of the central nervous system, characterised by inflammation, demyelination, and axonal transection, affecting primarily young adults. Disease modifying therapies have become widely used, and the rapid development of these drugs highlighted the need to update our knowledge on their short- and long-term safety profile.
Objective:
The study aim is to evaluate the impact of disease-modifying treatments on thyroid functions and thyroid autoantibodies with subsequent effects on the outcome of the disease.
Materials and Methods:
A retro prospective study
... Show MoreThe neutrophil/ lymphocyte ratio (NLR) and platelet/lymphocyte ratio (PLR) have the potential to be inflammatory markers that reflect the activity of many inflammatory diseases. The aim of this study was to evaluate the NLR and PLR as potential markers of disease activity in patients with ankylosing spondylitis.
The study involved 132 patients with ankylosing spondylitis and 81 healthy controls matched in terms of age and gender. Their sociodemographic data, disease activity scores using the Bath Ankylosing
The adequacy of diagnostic tests, together with trichomoniasis associated clinical symptoms, were investigated in females suffering vaginitis, and they were referred to the Gynecology Department, Al-Yarmouk Teaching Hospital during the period December 2004 – June 2005. The total number of patients was 250 cases (age range: 18 - 52 years), and each patient was examined using a sterile speculum to obtain vaginal swabs for examination. The diagnosis with T. vaginalis was done in many methods. The direct methods included wet and stained (Leishman's stain) examinations and cultivation in different culture media (Kupferberg Trichomonas Broth Base;, Trichomonas Agar Base; TAB and Trichomonas Modified CPLM), while the indirect methods were serol
... Show More