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.
Warfarin dosing is challenging due to a multitude of factors affecting its pharmacokinetics (PK) and pharmacodynamics (PD). A novel personalised dosing algorithm predicated on a warfarin PK/PD model and incorporating CYP2C9 and VKORC1 genotype information has been developed for children. The present prospective, observational study aimed to compare the model with conventional weight-based dosing. The study involved two groups of children post-cardiac surgery: Group 1 were warfarin naïve, in whom loading and maintenance doses were estimated using the model over a 6-month duration and compared to historical case-matched controls. Group 2 were already established on maintenance therapy a
Experts of Psychology and education emphasized that childhood is one of the most important stages in the formation of human personality, and the most influential in his public life, especially the stage in which he lives within his family, which must provide him with the requirements of healthy growth of physical, emotional, moral and social. Emotional-social connection of the child to his family, is especially important in determining the characteristics of his social character, in accordance with the norms and values prevailing in society. This requires the child to be cared for and cared for, and to deal with him in a healthy social manner. So as to achieve positive growth and harmony in the process of social control in internal
... Show MoreBackground: Mental health of children has recently been
receiving increased attention in many parts of the world.
However, such attention has been lacking in developing
countries, particularly in the form of systematic research
Aim: The study aimed to find out the frequency of
behavior disorders in a sample of primary school children
and the different social and demographic factors that might
be related to this disorder.
Methods: The study is a cross-sectional one that included
918 primary school pupils in both urban and rural areas of
Baghdad. Rutter's questionnaire teacher's version was used
to assess the pupils, and the demographic data was obtained
by special questionnaire sent to the parents to be
Anger is one of the problems of scientific importance that psychologists and education scientists are interested in, especially societies and educational environments, because if a child’s anger continues to develop into violence, then it becomes an unusual behavior, and an indication of the child's lack of adaptation to his family and his environment (Moses, 2013: 4) &n
... Show MoreBackground: Febrile convulsions are the most frequent type of seizures in children under 6 years of age. Significant percentage of these children will later suffer from recurrence of febrile convulsion.Objectives: To identify the main risk factors for recurrent febrile convulsions in children.Methods: we carried out a case control study involving 89 children those who experienced first attack of febrile convulsions and 92 children with recurrent attack of febrile convulsions. The study was conducted in Central Children Teaching Hospital, Baghdad during the period 2006- 2007. Results: Compared to children with first attack of febrile convulsion, children with recurrent seizures were younger at onset (4- 12m) (67% vs. 44%), mainly male (70
... 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
Total no. of patient (100) stool samples were collected, during the period from February to the end of May of 2008, for children under two years old suffering from non-bloody and bloody diarrhea at (Children Welfare Teaching Hospital) in Baghdad. The study evaluates the relationship between etiological agent of diarrhea and sex, age group, type of feeding, presence of blood in stool of the patients. All samples were examined microscopically to identify parasitic agent and serological test for Rotavirus to identify viral infection, also biochemical and serological tested for specimen's culture on different culture media and antibiotic sensitivity test. Results show from 100 cases 64] represents the etiological agent of diarrhea and
... 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
... Show MoreBackground: Indeterminate colitis (IC), a term
originated by pathologists to characterize confounding
histopathlogic appearance of resected mucosa, has
become catch phrase for cases in which diagnostic
criteria at all levels elude classification as Crohn's
disease (CD) or ulcerative colitis (UC).
OBJECTIVES: evaluate the prevalence of pANCA
expression in the sera and its isotypes.
Patients and methods: PATIENTS GROUP
consisted of 60 patients (40 males and 20 females)
with indeterminate colitis and their age range was (19-
84 years). CONTROL GROUP consisted of 30 (15
males and 15 females) healthy volunteers and their
age range was (20- 66 years).
Antineutrophil cytoplasmic ( pANCA and cANCA)
te