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.
Celiac disease (CD) is an inflammatory small intestinal disorder that can lead to severe villous atrophy, and malabsorption . Since the measurement of α-amylase activity is the most widely used biochemical test for the diagnosis of pancreatic and non pancreatic disease , therefore serum α-amylase were studied in the present study in an attempt to evaluate the usefulness of this enzyme in the diagnosis of celiac disease and its relationship with anti gliadin IgA and IgG and serum glucose . Thirty one patients with celiac disease were studied and compared with twenty four healthy individuals . Significant elevation of α-amylase activity , glucose and anti gliadin IgA and IgG were observed in the sera of patients with celiac diseas
... Show MoreTo determine the important pathogenic role of celiac disease in triggering several autoimmune disease, thirty patients with Multiple Sclerosis of ages (22-55) years have been investigated and compared with 25 healthy individuals. All the studied groups were carried out to measure anti-tissue transglutaminase antibodies IgA IgG by ELISA test, anti-reticulin antibodies IgA and IgG, and anti-endomysial antibodies IgA and IgG by IFAT. There was a significant elevation in the concentration of anti-tissue transglutaminase antibodies IgA and IgG compared to control groups (P≤0.05), there was 4(13.33%) positive results for anti-reticulin antibodies IgA and IgG , 3(10%) positive results for anti-endomysial antibodies IgA and IgG . There were 4 pos
... Show MoreTo determine the important pathogenic role of celiac disease in triggering several autoimmune disease, thirty patients with Multiple Sclerosis of ages (22-55) years have been investigated and compared with 25 healthy individuals. All the studied groups were carried out to measure anti-tissue transglutaminase antibodies IgA IgG by ELISA test, anti-reticulin antibodies IgA and IgG, and anti-endomysial antibodies IgA and IgG by IFAT. There was a significant elevation in the concentration of anti-tissue transglutaminase antibodies IgA and IgG compared to control groups (P≤0.05), there was 4(13.33%) positive results for anti-reticulin antibodies IgA and IgG , 3(10%) positive results for anti-endomysial antibodies IgA and IgG . There were 4 pos
... Show MoreA survey statistician for cholera in Iraq for 1980 and until 2003 show that cholera is endemic in Iraq and that the highest number of casualties recorded in the years 1998-1999 and increasing spread of the disease during the wars in hot climates, wet a study bacteriological used where circles selective and tests Alkouhaoah examinations serological system
Introduction: The association between acute stroke and
renal function is well known. The aim of this study is to
know which group of patients with acute stroke is more
likely to have undiagnosed Chronic Kidney Disease and
which risk factors are more likely to be associated with.
Methods:We studied 77 patients who were diagnosed to
have an acute stroke.Patients were selected between
April2011andJune 2011 using the " 4-variable
Modification of
Diet in Renal Disease Formula " which estimates
Glomerular Filtration Rate using four variables :serum
creatinine ,age ,race and gender.
Results :The study included 38 male and 39 females
patients ,aged (35-95) years. Glomerular Filtration Rate in
patients wi
Toxoplasmosis is an infection caused by Toxoplasma gondii that leads to abortion or hydrocephalus during pregnancy.One hundered and twenty two aborted women were selected for this study. Serum samples were collected form Al-Kadhmia and Kamal Al-Samari Hospitals,and laboratories around Baghdad, and tested for specific IgG and IgM anti-toxoplasma antibodies to confirm toxoplasmosis in those women by using ELISA test.The result recorded that 51(41.8%) women had antibodies against Toxoplasma gondii, 25(59.5%) women were positive for IgG, and 17(40.5%) women were positive forIgM, while 9(17.6%)women were positive for both.
Acquires this research importance of addressing the subject (environmental problems) with
age group task, a category that children pre-school, and also reflected the importance of
research, because the (environmental problems) constitute a major threat to the continuation
of human life, particularly the children, so the environment is Bmchkladtha within
kindergarten programs represent the basis of a hub of learning where the axis, where the
kindergarten took into account included in the programs in order to help the development of
environmental awareness among children and get them used to the sound practices and
behaviors since childhood .
The research also detected problem-solving skills creative with kids Riyad
Visceral leishmaniasis (VL) is a parasitic infection caused by an intracellular growth of Leishmania spp. in macrophage cells. The autoimmune disorder is a condition takes place when the immune system produces antibodies which incorrectly attacked its own body tissues. VL has been involved as an effect or on the autoimmune aspect. This study was conducted to identify the auto antibodies profile in patients infected with VL. The presences of auto antibodies in 21 Iraqi children infected with VL were tested for laboratory autoimmune aspect. The highest percentage of seropositive in Leishmania patients was observed for anti-ds DNA, anti-Mi-2, anti-Ku and anti-PCNA antibodies (90.5%, 90.5%, 90.5% and 61.9%) respectively, while the lowest percen
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