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 research aims to build a training program to develop the willpower in the kindergarten children. In order to achieve the objective of the research, the two researchers have developed a Training Program according to the following steps:
- Determining the general objective of the Training Program.
- Determining the behavioral objectives of the Training Program.
- Determining the content of the Training Program.
- Implementing the content of the Training Program sessions.
- Evaluating the Training Program.
The training program consisted of (15) sessions, each session included a set of parts (title, general objective, methods, time and place to implement the sessions, behavioral goals, tool
... Show MoreRaising children occupies a prominent place in Islam as a step paving the way for the success of reform projects on the level of diverse human life, and for this reason the recommendation for education was mentioned in the mission entrusted to the Prophet (PBUH), the Almighty said:
(( هُوَ الَّذِي بَعَثَ فِي الْأُمِّيِّينَ رَسُولًا مِّنْهُمْ يَتْلُو عَلَيْهِمْ آيَاتِهِ وَيُزَكِّيهِمْ وَيُعَلِّمُهُمُ الْكِتَابَ وَالْحِكْمَةَ وَإِن كَانُوا مِن قَبْلُ لَفِي ضَلَالٍ مُّبِينٍ)) Jumaa verse /38
The topic of the research that is in your hands deals with the
... Show MoreMost recognition system of human facial emotions are assessed solely on accuracy, even if other performance criteria are also thought to be important in the evaluation process such as sensitivity, precision, F-measure, and G-mean. Moreover, the most common problem that must be resolved in face emotion recognition systems is the feature extraction methods, which is comparable to traditional manual feature extraction methods. This traditional method is not able to extract features efficiently. In other words, there are redundant amount of features which are considered not significant, which affect the classification performance. In this work, a new system to recognize human facial emotions from images is proposed. The HOG (Histograms of Or
... Show MoreAim of the present study is Identification of specific gene for GPCR using specific primers .and identification of difference in PCR analysis in patients with heart thrombosis and compared with healthy, Sequencing of PCR product regarding GPCR compared for all three subject, Identification the similarity of human GPCR with local strain of yeast fifty healthy control and fifty patients with thrombosis which diagnosed medically with cardiac specific troponin t, troponin 1 levels and electro myocardiogram ECG. The aged for all subjects ranged (39-75) years patients were lying in cardiac care unit at Ibn- al- Nafees teaching hospital and Sheikh Zayed teaching hospital. Genomic DNA of whole blood was extracted from buffy coat and cell cu
... Show MoreObjective: To assess the role of tumour necrosis factor alpha level and genotyping in susceptibility to leishmaniasis.Method: The case-control study was conducted from March to July 2021 at Baqubah Teaching Hospital, Diyala, Iraq,and comprised patients of cutaneous leishmaniasis in group A and healthy controls in group B. The serum level andsingle nucleotide polymorphisms of tumour necrosis factor-alpha rs41297589 and rs1800629 were compared betweenthe groups. Data was analysed using SPSS 28.Results: Of the 150 subjects, there were 75(50%) in group A; 39(52%) males and 36(48%) females with mean age23.91±13.14 years. The remaining 75(50%) subjects were in group B; 38(50.7%) males and 37(49.3%) females withmean age 22.84±4.35 years.
... 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 breakfast key components of good nutrition and a large proportion of pupils to Ataatnol her breakfast at home and increase the failure rate breakfast increase the child's age research aims to study the importance of breakfast and emphasize the need to contain aggregates of basic food and its relationship to the curriculum daily diet and its impact on the balance of proteins, fats in food daily as well as the effect of some relevant factors such as the mother's level of education and the number of family members and summarized the most important results in that the percentage of 15.6% Neglected children eating breakfast as well as afternoon that Almaah percentages of calories coming from protein and fat at breakfast .....
Background: Infections are common in the children attending daycare centers how act as predisposes to it. Hygienic interventions have a fundamental role in infection control and disease prevention in child care settings.
Objective: - To evaluate the knowledge, attitude, and practice of nurseries workers in infection prevention and control among the children.
Subjects and Methods: A cross-sectional study using the researcher-developed questionnaire validated by two experts and piloted and 100 nurseries-workers had participated in it.
Result: the mean age of participants was 37.5 years±12.1, (37%) aged 18-30 yrs, 58% married, and 57% with higher education, 54% of n
... Show MoreThe research included four chapters starting with the chapter dealing with the problem of child abuse which was one of the most important educational and social problems faced by children from their parents or family members. The most common forms of abuse are physical and psychological violence. The problem of school delays is also one of the most important educational and psychological issues that concern educators, which occur because of violence and neglect of the family. The study pointed out that domestic violence is one of the issues that has started to alarm both the global and local communities, because childhood is one of the most important stages of the human development system, which is healthy in terms of physical, mental, p
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