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 research aims to identify the cognitive distortion of kindergarten children and its relationship to their parenting reinforcement. The researcher used the descriptive approach, being the closest to reaching the study objectives, To measure the relationship between the research variables, the researcher prepared two questionnaire tools for this purpose, the first for measuring "cognitive distortion", And the second is to measure "parental reinforcement", and each tool consisted of (20) items.
After ensuring the validity and reliability of the two research tools and their suitabi
... Show MoreBalad –Rooz is considered as one of the endemic foci of Schistosomiasisin Iraq.A survey was performed during the first three months of 2002 in fewprimary schools in Balad –Rooz to assess the prevalence among them.
Environmental exposures to lead remain a serious problem in the developing and industrializing countries. Children are the highest risk aged-group for lead poisoning. This study was designed to assess lead exposure in Al-Fallujah city by analyzing blood lead levels in children and adults and to explain the relationship between blood lead levels, hematological parameters and ferritin levels in the children. The study was performed on-(90) subjects, (65children and 25 adults).Venous blood samples were taken for estimation of hematological parameters, serum ferritin levels and blood lead levels. The children group was subdivided into four groups as: group (A) (low ferritin, low Hb), group (B) (low ferritin, normal Hb), group (C) (normal fer
... Show MoreThe formal investigation of the interior spaces of the residential bedrooms for children with autism is one of the basic tasks that should be known by the interior designer. Achieving an atmosphere compatible with his health condition, which contributes to generating a sense of spatial intimacy through the design dimension provided by the interior designer and his tireless endeavor to meet the needs of the child in an internal environment that achieves the functional dimension and spiritual approaches that enhance the child’s sense of spatial belonging and contribute to improving his mood and this positively reflects on his behavior and social integration. The current research has reached the most important design criteria that must be
... Show MoreThe childhood is an important stage in building the character of the individual and where children acquire the most important experiences . providing proper growth requirements of the things follows assist them in achieving a stable and together Childhood is the violence of indicators that can determine whether personal or illness social .the social circumstances experienced community Iraqi and continues through crises successive wars and explosions and the displacement and that these events may lead to changes in the social behavior of individuals and may contribute to the spread of violence in Iraqi society and observed various forms in (home, school, street, and work), so it was natural that a child the first affected by these waves o
... Show MoreThis work aimed to use conventional PCR to identify Salmonella spp. that were isolated from diarrheal children and healthy and diarrheic dogs based on four virulence genes, hilA, stn, spvR, and marT. Sixteen Salmonella isolates including: 9 isolated from children's diarrhea from three species (S. Typhimurium, S. Enteritidis, S. Typhi) and seven isolated from dogs including (S. Typhimurium, S. Enteritidis, S. Muenchen), were identified primarily by several methods. The PCR products of the 16S rRNA gene were sequenced and examined using BLAST analysis to find differences and similarities between these Iraqi isolates and already-known global strains in order to construct the phylogenetic tree of S.
... Show MoreMixed pain, defined by the concurrent involvement of nociceptive, neuropathic, and sometimes nociplastic mechanisms, poses a significant diagnostic and therapeutic challenge within modern pain medicine. This complex pain phenotype is increasingly recognized as a prevalent and burdensome clinical entity, yet it remains substantially underdiagnosed and sub-optimally managed across diverse healthcare settings. Epidemiological data indicate that mixed pain affects a substantial proportion of patients with chronic pain syndromes and is consistently associated with more severe symptomatology, prolonged pain duration, functional impairment, diminished quality of life, and escalated healthcare resource utilization compared to pain of a sing
... Show MoreEarly childhood Is the of the important stages in the life of man and initiated full on others
reliability has been rise in growth toward independence and self-reliance, as is the transition
from the home environment to the kindergarten environment (kindergarten) (4-6) years where
starts in the interaction with the external environment, it is an essential stage in the
construction of sound personal to the child, and choose proper clothes at this age is one of the
important aspects in building the child's personality, as it reflects the clothing behavior and
taste his parents, especially his mother, she is the first responsible for providing clothes for
her children. Children at this stage are dependent the mothers in