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.
Objective: Detection the presumptive prevalence of
silent celiac disease in patients with type 1 diabetes
mellitus with determination of which gender more
likely to be affected.
Methods: One hundred twenty asymptomatic patients
[75 male , 45 female] with type 1 diabetes mellitus
with mean age ± SD of 11.25 ± 2.85 year where
included in the study . All subjects were serologically
screened for the presence of anti-tissue transglutaminase
IgA antibodies (anti-tTG antibodies) by Enzyme-
Linked Immunosorbent Assay (ELISA) & total IgA
was also measured for all using radial
immunodiffusion plate . Anti-tissue transglutaminase
IgG was selectively done for patients who were
expressing negative anti-
Objective: Detection the presumptive prevalence of silent celiac disease in patients with type 1 diabetes mellitus with determination of which gender more likely to be affected.
Methods: One hundred twenty asymptomatic patients [75 male , 45 female] with type 1 diabetes mellitus with mean age ± SD of 11.25 ± 2.85 year where included in the study . All subjects were serologically screened for the presence of anti-tissue transglutaminase IgA antibodies (anti-tTG antibodies) by Enzyme-Linked Immunosorbent Assay (ELISA) & total IgA was also measured for all using radial immunodiffusion plate . Anti-tissue transglutaminase IgG was selectively done for patients who were expressing negative anti-tissue transglutaminase IgA with low tot
Background: Environmental chemicals are thought to
adversely affect human reproductive function.
Objective : To estimate the concentration of cadmium(Cd)
, lead ( Pb ) and Zinc ( Zn ) in serum and seminal plasma
among infertile men .
Methods: A sample of 70 infertile men was investigated.
The relationship of trace elements concentration in serum and
seminal plasma was studied in relation to sperm density,
motility and sperm count.
Results: Except for Zinc the concentration of (Pb) and (Cd)
were generally higher in serum than in seminal plasma. The
mean concentration of (Zn) in seminal plasma was more than
25 times higher than in serum There were no statistical
significant differences observed in the
A colorectal polyp (CRP) is a growth on the lining of the colon or rectum. The incidence of CRPs is rapidly increasing with age. They are most often benign. The rectum is the most commonly affected site.
To determine the incidence, clinical presentation, and histopathologic types of CRP in Iraqi patients.
It is a cross-sectional screening study conducted in the medical c
Objective: The study aimed to screen the prepubertal children for idiopathic scoliosis at earlier stages, and find
out the relationship between idiopathic scoliosis and demographic data such as age, sex, body mass index,
heavy backpacks, and heart & lung diseases.
Methodology: A descriptive study was conducted on screening program for prepubertal children in primary
schools at Baghdad city, starting from 24th of February to the end of October 2010. Non- probability
(purposive) sample of 510 prepubertal children were chosen from primary schools of both sides of Al-Karkh
and Al-Russafa sectors. Data was collected through a specially constructed questionnaire format include (24)
items multiple choice questions, and
Objective: impact of the education program for nurses' knowledge toward children under mechanical
ventilation, and to find out the relationships between nurses' knowledge and their general information.
Methodology: Quasi experimental study was carried out at the respiratory care units of Baghdad
Pediatric Teaching Hospitals started from February15th, until September 26th, 2011, A purposive (nonprobability)
sample of (23) nurses working in the respiratory care units, were selected from Children
Welfare and Pediatric Central Teaching Hospitals. The data were gathered through using of the
constructed multiple choice questionnaire using to evaluate the nurses knowledge using checklist, The
questionnaire consists of two p
Objective: To determine the impact of personal hygiene on woman who complain pelvic inflammatory disease Methodology: A quasi experimental study in the High Institute Infertility Diagnostic and A.R.T.(assistance reproductive technology) in AL-Kadimya city and al-Emamian al Kadmain medical city hospital. The sample collected during (26th ) January – (30th ) April 2014. A purposive sample of (60) women, (30) of them regard as study group and (30) regard as a control group whom they take routine care in the institute and hospital. The questionnaire consisted of socio-demographic data, reproductive heal
Abstract
Objective(s): A descriptive study aimed to determine nurses' knowledge about chest physiotherapy techniques for patients with Corona virus disease and observe the relationship between nurses' knowledge and their socio-demographic characteristics.
Methodology: The study was directed in isolation units of Al- Hussein teaching hospitals in Thi-Qar, Iraq for the period from June 1st, 2022 to November 27th, 2022. Non- probability (purposively) sample comprised 41 nurses. A questionnaire was used for data collection and it consists of two parts: the first part comprises socio demographic features, the second part includes self- administered questionnaire sheet wa
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