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.
This study aims to investigate the possible role of circulating microRNA-142-3p (miR-142-3p) in the
development of graves disease (GD) and its association with the antibody directed against thyroid
stimulating hormone receptor (TSHR-Ab) production in patients with GD. Forty patients with positive
TSHR-Ab enrolled in this study were divided ,based on treatment, into (22 untreated (newly diagnosed) and
18 treated patients) and based on family history (30 with positive family history and 10 with negative family
history). In addition to forty healthy subjects with sex and age matching as a control group. The expression
level of circulating miR-142-3p was determined by two steps reverse transcription polymerase c
Background: There is a pronounced controversy regarding the dental and mental consequences of thumb sucking habit, which is a familiar nonnutritive pattern of sucking. Commonly, this behavior is harmless, yet those who sustain this pattern may have dental alterations and emotional difficulties. Children’s intelligence level influences their capabilities to judge, evaluate and handle priorities and/or problems profoundly and precisely. Thumb sucking habit might be a manner of liberating the psychological tenseness among several children. Objective: The purpose of this study is to assess the prevalence of thumb sucking habit and its relation to the eruption of permanent teeth and IQ among children aged 6-7 years old. Subjects and methods: I
... Show MoreThe aim of this study was to study TV advertising and consumer behavior in children and to meet the needs of children. The study included 100 children from Baghdad who were randomly selected from different regions ranging in age from 9-12 years of both males and females. The current research was based on the interview and the completion of special forms prepared for this purpose. This age group was selected for the rare studies conducted on television advertising and limited to different sectors. Data on age and sex were documented, as the results of this study proved The afternoon period was the preferred period for watching the TV show in males, where it was 22%, while the morning period was the female favorite, and it was 23%. The ind
... 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: 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 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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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 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 .....