Pompe disease is a progressive, multisystemic, debilitating, often fatal neuromuscular disease caused by a pathogenic variant in the acid α-glucosidase gene leading to GAA enzyme deficiency and lysosomal glycogen accumulation. Objectives: This study aimed to determine the prevalence of early onset Pompe disease in Basra, using the dried blood spot (DBS) as a screening tool, also to determine the spectrum of presentation. Materials and Methods: In a prospective study conducted in Basrah, Iraq, from October 2021 to September 2023, all infants with a family member diagnosed as a case of Pompe disease, hypotonia, or ventricular hypertrophy referred to the pediatric cardiology unit in Basra Cardiac Hospital were subjected to echocardiographic examination and assessment of GAA enzyme level, and genetic study by dried blood spot. Results: Thirty patients with confirmed Pompe disease were evaluated (12 males and 18 females), and the mean age of presentation was 3.7 months. The level of CK raged from 123 to 1471 (mean 614.3 ± 247), and the level of GAA activity ranged from 0.0 to 0.3 (mean 0.123 ± 0.07). All infants were homozygous for mutations in GAA. The most commonly encountered mutation was c.1314C>A. Conclusion: Pompe disease is an underestimated disease in Iraq, and the delay in the diagnosis results in established, irreversible myopathic changes even with enzyme replacement therapy and results in high mortality, so a high index of suspicion and early diagnosis will help to provide proper therapy and will help to provide a better quality of life for such patients
Background:Wilson’s disease (WD) is an inherited
disorder of copper metabolism that is characterized
by tremendous variation in the clinical presentation.
Objective: To assess demographic distribution,
clinical presentations, diagnostic evaluation, and any
association between clinical presentations and other
studied variables of a sample of Iraqi patients with
WD.
Methods: A descriptive cross sectional study with
analytic elements was conducted during 2011, from
the 1st of February till the 10th of June. The sampling
method was a convenient non-random one, carried
out through consecutive pooling of registered WD
patients. A questionnaire-form paper had been
developed for the process of data col
It is considered as one of the statistical methods used to describe and estimate the relationship between randomness (Y) and explanatory variables (X). The second is the homogeneity of the variance, in which the dependent variable is a binary response takes two values (One when a specific event occurred and zero when that event did not happen) such as (injured and uninjured, married and unmarried) and that a large number of explanatory variables led to the emergence of the problem of linear multiplicity that makes the estimates inaccurate, and the method of greatest possibility and the method of declination of the letter was used in estimating A double-response logistic regression model by adopting the Jackna
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It is considered as one of the statistical methods used to describe and estimate the relationship between randomness (Y) and explanatory variables (X). The second is the homogeneity of the variance, in which the dependent variable is a binary response takes two values (One when a specific event occurred and zero when that event did not happen) such as (injured and uninjured, married and unmarried) and that a large number of explanatory variables led to the emergence of the problem of linear multiplicity that makes the estimates inaccurate, and the method of greatest possibility and the method of declination of the letter was used in estimating A double-response logistic regression model by adopting the Jackna
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Hydatid disease is a zoonotic infection caused by Echinococcus species. The cystic form of this infection mostly involves liver and lung. Hydatid disease of the parotid gland even in endemic regions is a very rare entity that may be easily overlooked in daily practice. Herein, I present a case report of a 60-year-old Iraqi female patient who presented with a progressively painless mass in her right parotid. It was diagnosed radiologically as a hydatid cyst and was excised successfully. Histopathologic examination of the resected specimen confirmed the hydatid cyst. This case emphasizes the importance of considering hydatidosis in the differential diagnosis of any parotid mass, especially in endemic countries.
 
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A band rationing method is applied to calculate the salinity index (SI) and Normalized Multi-Band Drought Index (NMDI) as pre-processing to take Agriculture decision in these areas is presented. To separate the land from other features that exist in the scene, the classical classification method (Maximum likelihood classification) is used by classified the study area to multi classes (Healthy vegetation (HV), Grasslands (GL), Water (W), Urban (U), Bare Soil (BS)). A Landsat 8 satellite image of an area in the south of Iraq are used, where the land cover is classified according to indicator ranges for each (SI) and (NMDI).
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To 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
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