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.
Was conducted neutralize content Albulamedi for local isolates using Alacardan dye orange selection experience showed loss of local isolates resistant life antibiotic ampicillin, chloramphenicol
Through the study of social work and social policy ( problems of marginalization and empowerment opportunities ) and taken a theoretically descriptive and analytical and highliyhed the role of social work in social policy its achieved only through community intraction and paamong all parties and according to social policies include of material resources and haman and integrated in to the planning and development framework with the aim of providing social services for allsegments of society and become the study in social work that include the introducation / and five chapters each chapter in cludes several detectives and each complements the other .
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Abstract
Objective(s): To evaluate the nurses` practices for children who diagnosed with febrile convulsion.
Methodology: A quantitative research, descriptive correlational design was used in this study, the study conducted on nurses who work in Al-Diwaniya Pediatrics Teaching Hospital-Iraq for Maternal and Children period from 12th September 2021 to 10th October 2022. A non- probability (convenience) sample has been applied to obtain the study goals. The study sample was (21) nurses who participate in the study. The study tool is composed of two parts: The first part is concerned with collection of nurses socio-demographic data obta
... Show MoreObjective: Diarrhea is a symptom of a variety of conditions may attack the child. It considered one of
mam causes of mortality rates especially in low socio- economic level countries. The child can be
easily got dehydration and pass from loss of too much body fluid and due to the Common thoueht of
increasing the incidence of diarrhea during summer season, this study is done to find out the relation
between the high incidences rate of diarrhea and weather variation
Methodology: This survey conducted in AL- Markazi Child's Teaching Hospital for the year 2005 the
data were gathered from hospital records for the period (January - December) and age groups
taxonomy used by hospital applied. Descriptive statistical analysis
One of the most frightening to children ages pre-school entry , Are those concerns about natural phenomena such as (The darkness, the sound of thunder, lightning and light, and rainfall, and storms) These natural phenomena are not familiar to the child , It may have a surprise when he/ she sees , And others intimidated , The affects of panic and fears that may lead him some psychological injury symptoms.
The fear of the dark, of the most common concerns associated with the child in his daily life , As the children's fear of the dark is reasonably fear that makes him a natural to live in the unknown , We can not identify what around him and is afraid of something collision, Or injury from somet
... Show MoreBackground: The immunogenetic predisposition
may be considered as an important factor for the
development of Type 1 Diabetes Mellitus (T1DM)
in association with the HLA antigens.
Objective:This study was designed to investigate
the role of HLA-class II antigens in the etiology of
type T1DM and in prediction of this disease in
siblings, and its effect on expression of glutamic
acid decarboxylase autoantibodies (GADA).
methods:Sixty children who were newly diagnosed
type 1 diabetes (diagnosed less than five months)
were selected. Their age ranged from 3-17 years.
Another 50 healthy siblings were available for this
study, their ages range from 3-16 years. Eighty
apparently healthy control subjects,
Adhesion (type 1 fimbriae) and host defense avoidance mechanisms (capsule or lipopolysaccharide) have been shown to be prevalent in Escherichia coli isolates associated with urinary tract infections. In this work, 50 uropathogenic Escherichia coli (UPEC) isolated from children with urinary tract infections were genotypically characterized by polymerase chain reaction (PCR) assay. We used two genes; fimH and kpsMTII, both of them previously identified in uropathogenic E.coli (UPEC) isolates. The PCR assay results identified fimH (90.0)% and kpsMTII (72.0)% isolates. In the present study, was also demonstrated that these genes may be included in both or one of them within a single isolate.
The clinical spectrum of cutaneous leishmaniasis (CL), an intracellular parasitic pathogen, ranges from a single sore healing to chronic crusty lesions with a manifestation of treatment resistance. The complicated interaction between Leishmania bodies and the early immune response, including innate and adaptive mechanisms, determines the evolution of nodules. This study examined the levels of the chemoattractant interleukin 8 (IL-8), pro-inflammatory nitric oxide (NO), and immunoregulatory macrophage inhibitory factor (MIF) in the serum of subjects recently diagnosed with cutaneous leishmaniasis, in parallel with patients being monitored during consecutive sodium stibogluconate (Pentostam) treatment. A total of 161 serum samples of newly di
... Show MoreBackground: Known as suxamethonium or succinylcholine, is a medication used to cause short-term paralysis as part of general anesthesia. The duration of operation is one of the important factors accounting to the success of the operation. Simple safe available drug can change the plan of anesthesia.
Objective: The purpose of this study was to assess adding Lidocaine three minutes intravenously before induction of general anesthesia on the duration of optimum prolongation the action of Suxamethonium . With other group with regular meth
... Show MoreThe purpose of this study was to evaluate the anesthetic effectiveness of a buccal infiltration technique combined with local massage (using 2% lidocaine) in the extraction of mandibular premolars to be utilized as an alternative to the conventional inferior alveolar nerve block.
Patients eligible included any subject with a clinical indication for tooth extraction of the mandibular 1st or 2nd premolars. All patients were anesthetized buccally by local infiltration technique followed by an external pressure applied for 1 min directly over the injection area. In each case, another local