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 phenomenon of poverty is one of the most important phenomena facing the world at large. Despite the tremendous technological progress witnessed by mankind and despite the unprecedented high levels of world economic production, poverty remains the greatest challenge facing the world. Statistics and studies have shown that poverty is caused by several problems: (health, social, economic, educational, etc.) These problems are obstacles to the ability to obtain employment opportunities, which leads in the beginning to the growth phenomenon of unemployment, and ultimately to the growth of poverty.
The results of a range of research in the field of psychology have confirmed that children from poor homes suffer from a high level of
... Show MoreBackground: Treatment of invasive prolactinoma, which has several characteristics including invasive growth into cavernous sinuses and formation of giant adenomas compressing adjacent neural structures, resulting in neurological dysfunction, has been very challenging. There are relatively few reports available describing long-term treatment outcome.
Aims of the study: In this study we evaluate the results of cabergoline administration as initial treatment during 4 years follow up period.
Methods: We prospectively categorized 36 patients into four groups according to the results of 3 months of cabergoline treatment: group 1, tumor volume reduction (TVR) ˃25% with normaliz
... Show MoreGum 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 MoreBackground: One of the significant public health problems is the traumatic dental injury to the anterior teeth, it has a great impact on children’s daily. Physical and psychological disturbance, pain and other negative impacts, such as tendency to avoid laughing or smiling may be associated with traumatic dental injuries, that may affect the social relationships. To determine the occurrence of traumatic dental injuries in relation to quality of life, this study was established among children of primary schools. Material and Methods: A cross-sectional study was conducted among private (574) and governmental (1026) primary school children in Baghdad city. Dental trauma was assessed according to Ellis and Davey classification in1970
... Show Moreالخلاصة: الحكة اليوريمية لدى مرضى غسيل الكلى يؤثر على أكثر من 40٪ من المرضى. وربما ترتبط الحكة المستمرة بمستويات عالية من الإنترلوكين 31. الاهداف: النظر إلى مستويات مصل إنترلوكين 31 لدى مرضى غسيل الكلى المصابين بمرض الكلى في المرحلة النهائية، سواء مع أو بدون حكة يوريمية. النتائج: لم يكن مستوى المصل [الوسيط (] لـ IL-31 في المرضى الذين يعانون من الحكة اليوريميةأو بدون حكة في عينة مصل ما قبل غسيل الكلى مختلفًا بشكل م
... Show MoreThe rapid increase in the number of older people with Alzheimer's disease (AD) and other forms of dementia represents one of the major challenges to the health and social care systems. Early detection of AD makes it possible for patients to access appropriate services and to benefit from new treatments and therapies, as and when they become available. The onset of AD starts many years before the clinical symptoms become clear. A biomarker that can measure the brain changes in this period would be useful for early diagnosis of AD. Potentially, the electroencephalogram (EEG) can play a valuable role in early detection of AD. Damage in the brain due to AD leads to changes in the information processing activity of the brain and the EEG which ca
... Show MoreBackground: Coronavirus disease 2019 (COVID-19) is an emerging zoonotic disease caused by the new respiratory virus SARS-CoV2. It has a tropism in the lung tissues where excess target receptors exist. Periostin plays a role in subepithelial fibrosis associated with bronchial asthma. Since the Coronavirus's target is the human respiratory system, Periostin has been recently described as a valuable new biomarker in the diagnosis and evaluation of disease in patients with COVID-19 lung involvement. Objectives: To assess the level of Periostin in the serum of COVID-19 patients and to correlate its role in disease severity and prognosis. Subjects and Methods: Periostin serum levels were measured for 63 patients attending three main COVID
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