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 childhood of the important stages in which the adopted child's personality, mental and physical, motor and configure , as well as gain experience , it is the basis on which the future life of the child , studies have unanimously competent in the fields of childhood verily the first five years of a child of the most important stages of life and the most fertile life . Because the stage Childhood its an active role as the foundation upon which to build human personality , it was necessary to create all leads to raise the level of intelligence of children , because intelligence is the first element in the organization of thinking makes the child able to do the activities characterized by mental qualities .
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This research aims to identify the following :
- The reading willingness skill to kindergarten children.
- There is no statistical significance difference between average scores of reading willingness skill of the sample individuals as a whole, and the hypothetical average of the scale.
- The difference in reading willingness skill to kindergarten children according to gender variable (male & female).
- There is no statistical significance difference between average scores of reading willingness skill for kindergarten children according to gender variable (male & female).
To achieve the research goals, the researc
... Show MoreZM Al-Bahrani, Medico Legal Update, 2021
Background Cardiovascular disease (CVD) is a leading cause of death worldwide. Ischemic heart disease is a major cause of morbidity and mortality. Lack of blood supply to the brain can cause tissue death if any of the cerebral veins, carotid arteries, or vertebral arteries are blocked. An ischemic stroke describes this type of event. One of the byproducts of methionine metabolism, the demethylation of methionine, is homocysteine, an amino acid that contains sulfur. During myocardial ischemia, the plasma level of homocysteine (Hcy) increases and plays a role in many methylation processes. Hyperhomocysteinemia has only recently been recognized as a major contributor to the increased risk of cardiovascular disease (CVD) owing to its eff
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This study aims to identify the most important legislatures and legal frameworks pertaining to advertisement for children. It focuses on the western approach, which is characterized by the variety of its perspectives in presenting issues and in identifying problems. However, if studies show that there is a certain awareness about the advertisement impact on children, it is obvious that most of legislatures reject the laws restricting the broadcast advertising spots intended for children under 12 years of age, with the exception of the Swedish and the Canadian province of Quebec experiences, which opted for total ban on advertising spots broadcast messages targeting children. |
Background: Dilated cardiomyopathy (DCM) is a well-recognized cause of cardiovascular morbidity and mortality.Objectives: To evaluate the prognostic implications of the restrictive left ventricular filling pattern (RFP) in dilated cardiomyopathy.Methods: Patients with DCM admitted to Ibn AL-Bitar Hospital for Cardiac Surgery, Baghdad-Iraq, from May 2006 to August 2008, underwent a full clinical evaluation and Doppler echocardiography study. Patients were classified into three groups: Group I had persistent restrictive filling pattern; Group II had reversible restrictive filling pattern; and Group III had nonrestrictive filling pattern. Results: The current study was conducted on a total number of 80 patients with DCM, fifty (62.5 %) were
... Show MoreObjective To highlight the main demographic characteristics and clinical profiles of female patients registered with breast cancer in Iraq; focusing on the impact of age.Methods This retrospective study enrolled 1172 female patients who were diagnosed with breast cancer at the Main Center for Early Detection of Breast Cancer/Medical City Teaching Hospital in Baghdad. Data were extracted from an established information system, developed by the principal author under supervision of WHO, that was based on valid clinical records of Iraqi patients affected by breast cancer. The recorded information regarding clinical examination comprised positive palpable lumps, bloody nipple discharge, skin changes, bilateral breast involvement, tumor
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