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.
Background: Radial neck fractures in children account for 5 to 10% of all elbow fractures in children. They are extra-articular fractures of the radius proximal to the bicipital tuberosity. The physis is typically involved as a Salter-Harris I or II pattern. Alternatively, the fracture sometimes is extraphyseal, through the metaphysis. In children there is considerable potential for remodeling after these fractures. Up to 30° of radial head tilt and up to 3 mm of transverse displacement are acceptable. Many modalities of treatment are available regarding Surgical &Non-Surgical treatments. Objectives: To evaluate the functional outcome after surgical percutaneous joystick reduction therapy of severely angulated radial neck fracture i
... Show MoreObjective(s) : This study aimed at evaluating the seroprevalence of anti -HCV and studying the
correlation between hemophilia and risk factors for acquiring HCV such as age , marital status &
occupation among hemophilic patients .
Methodology : 210 hemophilic patients in children welfare teaching hospital/medical city/Baghdad–Iraq
(hemophilia center) were investigated using prepared questionnaire and tested for HCV infection, those
were measuring patient’s age, hemophilia types and severity, marital status, residency and history of
previous HCV infection .
Results : Most hemophilic patients were hemophilia A at severe , hemophilia was at age group 20 – 29
years , the majority of patients were unmarried a
This research seeks the effects of dubbed Turkish TV series on Iraqi audiences. The chosen sample is about 600 Iraqi students at Baghdad and al-Anbar Universities. This study consists of four sections: section one deals with the theoretical framework of the study. Section two studies the dubbed Turkish TV series. The third section explores the role of mass media in forming tendencies, and the last section seeks the field study by analyzing the tendencies if Iraqi viewers of these series.
The goal of this study is to know the role these series played in affecting the behavior and attitudes of Iraqi people and how it can change their morals.
The research ends with the number of results like the negative effect of these series on the
Dermatophytes are species with slight genetic variation, and are yet several uncertainties about the differences among species. This study aims to isolate and diagnose the Trichophyton interdigitale by molecular technique and to reveal the phylogenetic distance and similarity of the Iraqi isolates to other isolates from the globe, in addition, to submit the obtained sequences to the NCBI database. This study included 86 with multiple lesions on different parts of the body. The results showed different variations within the ITS gene between the isolates. It was concluded that Trichophyton interdigitale in Iraqi isolates had two types of substitution variations (Transition and Transversion) different than global isolates. Moreover, it
... Show MoreBackground:This is a prospective study of three children presented to us in the Orbital clinic in AL ShahidGazi Al Hariri Hospital with painless proptosiswith suspension of Hydatid disease.Objectives: : Orbital hydatid disease is a rare lesion accounting for less than 1% of the total lesions of the body (1, 2). Orbital cysts presented as a primary lesion in our study which is rare to have such lesion without involvement of other organs (3). Humans represent the intermediate host where the commonly affected organ are liver and the lung (10-15%) (4). Methods:This is a prospective study of three Children presented to us in the Orbital clinic in Al Shahid Ghazi Alhariri Hospital with painless proptosis with suspension of Hydatid disease, dep
... Show MoreMultiple sclerosis (MS) is a chronic, inflammatory, immune mediated disease of the central nervous system, mostly affecting young adults with mean age of 30 years, twice as high in women compared to men. The etiology of MS is not fully elucidated. MS symptoms are directly related to demyelination and axonal loss, along with other psychological symptoms, can result in functional limitations, disability and reduced quality of life (QoL). The QoL assessments in patients with a chronic disease may contribute to improving treatment and could even be of prognostic value. The goals of this study were to compare the QoL of Iraqi patients with relapsing remitting multiple sclerosis (RRMS),using three different diseas
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