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.
The 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 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.
Background:
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 MoreBackground: Osteoporosis is an extra-articular complication of rheumatoid arthritis that results in increased risk of fractures and associated morbidity, mortality, and healthcare costs. Objective: To evaluate changes in bone mineral density in a sample of rheumatoid arthritis (RA) patients on biological (anti tumor necrosis factor (TNF) alpha) and non-biological agent disease modifying antirheumatic drugs (DMARDs). Patients and Methods: A cross sectional study enrolled 60 RA patients diagnosed by rheumatologist according to the 2010 American College of Rheumatology/European League Against Rheumatism (2010 ACR/EULAR) classification criteria for RA. Thirty patient on biological agent (anti TNF alpha) and 30 patient on non-biological agent (D
... Show MoreThe effect of mental and physical health on the feelings of subject welfare is known as health-related quality of life. The chronic obstructive pulmonary disease is a common respiratory diseases. Assessment of health-related quality of life is considered important in such chronic disease. The objective of the current study was to measure health-related quality of life in a sample of chronic obstructive pulmonary patients in AL- Diwanyia city/Iraq. This study was carried out on 150 already diagnosed COPD patients who attended to the Center of Respiratory Diseases/AL-Diwaniyah Teaching Hospital during September 2019 to January 2020. The Arabic version of St George’s Respiratory Questionnaire was used to asses
... Show MoreBackground: Rheumatoid arthritis (RA) is a chronic and systemic autoimmune disease that is characterized by severe synovial inflammation, cartilage erosion, bone loss, and generalized vasculopathy. Although the immunologic mechanism of RA is still unclear, it is now thought to be a primarily Th17-driven disease. Along with other factors, IL-23 stimulates the expansion of Th17 cells from naive CD4+ T cells.
Objective: The objective of this study is to assess the circulating levels of interleukin (IL)-23 in rheumatoid arthritis (RA) and determine the correlation between plasma/serum IL-23 levels and disease activity. So, we performed a systematic review with meta-analysis comparing
... Show MoreBackground: Parkinson's disease (PD) is a neurodegenerative aging disease, with idiopathic PD being most common. Gastrointestinal tract disorders (GITD) and microbiota changes may trigger idiopathic PD. Neurotoxins from microbiota can travel from the gut to the brain via the brain-gut axis (BGA), leading to α-syn protein misfolding and dopaminergic neuron death. Methods: The aim of the current study was to investigate the link between PD and GITD by measuring several biochemical and immunological markers in 142 patients. The biochemical markers measured were vitamins B6, B12, and D, calcium, serotonin, ghrelin, dopamine, and α-syn protein. The immunological markers included transforming growth factor-beta (TGF-β), tu
... Show MoreABSTRACT Background: Piezosurgery device is a system developed recently to overcome the limitation of the traditional surgical technique in implant site preparation, which use the principle of ultrasonic microvibrations to create precise & selective cut in bone in harmony with the surrounding tissues. The aim of this study was to evaluate the outcomes of implants inserted by ultrasonic implant site preparation protocol (UISP) using piezosurgery device, regarding the survival rate, stability and other related factors, at 16 weeks postoperative follow up period. Materials and Methods: A total of (24) patients, (6) males and (18) females, aged between (19-51) years old, contributed in this study receiving a total of (42) implants, all of these
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