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.
Reprehensible during the period of human life ,particular in child hood and after weaning
baby,analmeating habits have acquired his remaining life time and here high Iights,the role of
the mother in the childs education,dietar habits, and health methods and what is beneficial to
his health and in sufficien quantities for the baby .brooze trails are learned by the childin the
home with animportant and significant role in the future,inacht.aaralgame course wisely,after
becoming more in dependent in its delision-making an choices beyond the control of parents.
The present study aimed to message measure the awareness of food the mother and her role in
the development of food awareness sons, and its relation ship with som
Content-based image retrieval has been keenly developed in numerous fields. This provides more active management and retrieval of images than the keyword-based method. So the content based image retrieval becomes one of the liveliest researches in the past few years. In a given set of objects, the retrieval of information suggests solutions to search for those in response to a particular description. The set of objects which can be considered are documents, images, videos, or sounds. This paper proposes a method to retrieve a multi-view face from a large face database according to color and texture attributes. Some of the features used for retrieval are color attributes such as the mean, the variance, and the color image's bitmap. In add
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Hexapod robot is a flexible mechanical robot with six legs. It has the ability to walk over terrain. The hexapod robot look likes the insect so it has the same gaits. These gaits are tripod, wave and ripple gaits. Hexapod robot needs to stay statically stable at all the times during each gait in order not to fall with three or more legs continuously contacts with the ground. The safety static stability walking is called (the stability margin). In this paper, the forward and inverse kinematics are derived for each hexapod’s leg in order to simulate the hexapod robot model walking using MATLAB R2010a for all gaits and the geometry in order to derive the equations of the sub-constraint workspaces for each
... Show MoreBackground: Hyperthyroidism occurs due to over production of thyroid hormones, one types of hyperthyroidism was Graves, disease. Hyperthyroidism is characterized by high level of serum thyroxin, triiodothyronine and low level of thyroid stimulated hormones. Material and Methods: fifty two hyperthyroid patients, thirty patients under treatment with carbimazole and other twenty two patients under treatment with radioactive iodine, and sixty healthy control group. The average salivary flow rate was calculated as ml/5mint.The concentration of calcium, potassium, and total protein were determined in the salivary supernatant sample. This is done through different biochemical tests. Determination of salivary IgA is done by ELIZA. Results: The most
... Show MoreObjectives: This study aims to determine the disease’s patterns and outcomes of admission among neonates hospitalized at the neonatal care unit in Erbil City, and using the findings as a baseline for neonate’s morbidity and mortality assessment in the future. Methodology: A retrospective study carried out at neonatal care unit of Raparin pediatric teaching hospital. An instrument for data collection developed by researcher included (age, gender, cause of admission, diagnosis and outcome upon discharge and causes of death). Content validity of the instrument was determined through the use of panel ex
Objective: to evaluate body image and depression symptoms of children with precocious puberty, and find out association between children`s sociodemographic characteristics and their body image and depression signs. Methodology: A cross sectional study, sample of (80) child from both gender, > 7 years were included due to their ability to express their own feeling, diagnosed with precocious puberty, attending out-patient endocrine clinics at pediatric hospitals in Baghdad city. Data collected, during the period from May to November 2018. Consent form has taken from children and their guardians to participate in study. Child body image scale (CBIS) was used to evaluate children body satisfaction (1) and Mood and feeling questionnaire (M
... Show MoreBackground: Dental caries is a disease occurs in the world in both developed and developing countries, it is still widespread among children and it can be controlled but not eliminated , most of tooth loss occurs due to dental caries and its complications. The aim of this study was to estimate the occurrence, and severity of dental caries and treatment needs among kindergarten children in Al-Basrah governorate. Materials and methods: The sample consisted of 1000 kindergarten children at age of 4-5 years old (445 boys and 555 girls) from urban areas in Al-Basrah city. Diagnosis and recording of dental caries and treatment needs were done according to the criteria of WHO (1987). Results: The percentage of dental caries was (80.8%) of the tota
... Show MoreParental socialization trends impacting seriously on the growth of individual
personality and psychological health trends ,love, acceptance and on confidence help
children to grow as a person who loves other accept others and trust and negative parental
attitudes such as excess portents us or negligence . and the focusing and demonstrate a
negative impact on the growth of excess an mental health and family play a significant role in
a childes life we can see how many manifestation of compatibility or incompatibility thatappear on individual behaviors and achieve their success or failure in life be returned to the
of human relations that prevailed between the family members of children in various stages of
his life fi
The study is concerned with the problem of the earthly identity of kindergarten children by verifying its aims in identifying the earthly identity of the first level of kindergarten children and the earthly identity of both levels of the kindergarten. The research also aims to identify the earthly identity of male and female kindergarten children. The study population is represented in public and private kindergartens on both sides of Baghdad city, Karkh & Rusafa for the academic year (2022-2023). The earthly identity test in its final form consisted of (10) items. The test was administered to a sample of (400) children in public and private kindergartens, who were selected randomly. The results showed that kindergarten children have
... Show MoreSickle cell disease (SCD) comprises an inherited blood disorder that is life long and affects many people globally. In spite of the development in treatment, SCA is a considerable cause of mortality and morbidity. The present study tries to assess the role of leukocytes represented by β integrin(CD18) and platelets and their productivity in the pathogenicity of disease during the steady state and crisis in comparison with the healthy as-control group, SCD patients (15) enrolled during crisis and steady state (follow up) showed a significant increase in leukocytes and platelets cells productivity during crisis when compared to the steady state and in the steady state when compared to the healthy control group . In this study, SCD patho
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