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.
Gum Arabic is a natural gummy exudate gained from the trees of Acacia species (Acacia senegal and Acacia seyal), Family: Fabaceae. Gum Arabic considers as a dietary fiber with a high percentage of carbohydrates and low protein content. Sugars arabinose and ribose were originally discovered and isolated from gum Arabic and it is representing the original source of these sugars. A gum emanation from trees occurs under stress conditions such as heat, poor soil fertility, drought, and injury. Mainly gum is produced in belt region of Africa, mainly Sudan, Chad, and Nigeria. In the food industry, it is used in confectionery; in the pharmaceutical industry, it is used as emulsifier, film coating and others. Traditionally the g
... 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 MoreThis study aimed to compare the safety and efficacy of laser lithotripsy and pneumatic lithotripsy, the two most commonly used transurethral lithotripsy methods for treating bladder stones in children in Iraq. Between January 2013 and December 2016, 64 children with bladder stones were included in this prospective randomized study, after ethical committee approval and written consent from the children’s parents or caregivers were obtained. Patients were assigned randomly by computer software to two groups treated with either pneumatic cystolithotripsy or laser lithotripsy. A 9 Fr. semirigid ureteroscope was used to pass the lithotripter through and fragment the stone. A catheter of 8–12 Fr. was then introduced and kept in place
... Show MoreAbstract:
The research aimed to know favoured mass media for children and
modifying their behaviour ,the child became aquires the information from
mass media that he exposure them without any guidance , where upon the
quidance proqrammes becomes real danger whereas qet out their civil
style and converting to deadly poisons,and because of little study for this
supject the two researchers opined to perform astudy to know the favoured
mass media to the children and what are the mass media that modify their
behavior according to ther parent points of view ,after propring the research
measurement and the suilable statical methods it has shown that there are
mass media affect in children behavior ,they are st
Background: The autism spectrum disorder (ASD) describes a wide range of symptoms, including difficulty with social interaction and communication skills. Controversial thinking about oral health of children with ASD, in general may have a lower hygiene level than healthy individuals, low caries rate and high body weight in comparison to healthy children. This study was conducted to assess the oral health status in relation to nutritional status among institutionalized autistic children and adolescents. Materials and methods: From 12 institutes in Baghdad, the study group contained 364 child and adolescent with ASD (Male= 294, Female=70), while control group included 441 normal child and adolescent (Male=357, Female=84) from primary and seco
... Show MoreBackground: Chronic obstructive pulmonary disease (COPD) is a progressive airflow limitation that is preventable but not curable. It is associated with persistent symptoms that cause a considerable burden on individual productivity at work, and daily activities, and reduced quality of life, also burdening the healthcare system and society. Objectives: The study aims to measure the burden of COPD on patients in terms of daily activities and work productivity. It also seeks to investigate some inflammatory biomarkers' levels and their correlation with selected outcomes. Patients and Methods: A cross-sectional study on 120 stable COPD patients who were diagnosed and treated according to the GOLD guidelines at Kirkuk General Hospital's
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