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.
Chronic liver disease (CLD) can potentially cause disruptions in the normal functioning of various endocrine organs responsible for producing hormones. As a result, individuals suffering from CLD may experience fluctuations or imbalances in the levels of certain hormones within their bodies. As well as they frequently have suppressed immune systems making them more vulnerable to parasite infections. The primary objective of this study was to investigate the association between Toxoplasma gondii infections and liver function by analyzing the interplay between these parasites and hormones. This study was conducted in Baghdad, Iraq from December 2021 to May 2022. One hundred and twenty male patients with Chronic liver disease (CLD) (ag
... Show MoreThyroid disease is a common disease affecting millions worldwide. Early diagnosis and treatment of thyroid disease can help prevent more serious complications and improve long-term health outcomes. However, thyroid disease diagnosis can be challenging due to its variable symptoms and limited diagnostic tests. By processing enormous amounts of data and seeing trends that may not be immediately evident to human doctors, Machine Learning (ML) algorithms may be capable of increasing the accuracy with which thyroid disease is diagnosed. This study seeks to discover the most recent ML-based and data-driven developments and strategies for diagnosing thyroid disease while considering the challenges associated with imbalanced data in thyroid dise
... Show MorePKE Sharquie MD, PDPAA Noaimi MD, DDV, FDSM Al-Ogaily MD, IOSR Journal of Dental and Medical Sciences (IOSR-JDMS), 2015
The relationship between the clinical singes and some of the hematological and biochemical values in 126 cases of local breed and Shammi breed goats (from both sexes) diagnosed as cases of malnutrition from 230 goats examined .The clinical examination include (beside the general inspection and case history) body temperature, respiratory and pulse rates, mucus membranes skin and coat. Examination of the blood samples included RBCs count, Hb concentration, PCV % and values of cupper, magnesium, phosphorus, and potassium. The results showed that the mean body temperature of these goats was lower than in normal goats, while the respiratory and pulse rates were higher .Examination of blood revealed decrease in the means of RBCs counts ,Hb con
... Show MoreBackground: Young children’s oral health maintenance and outcomes are influenced by their parent’s knowledge and beliefs, which affect oral hygiene and healthy eating habits. This study aims at assessing caries risk in children aged 6 months to 6 years attending the Specialized Center of Preventive and Pediatric Dentistry Center at Al-Resafa sector in Baghdad. Materials and Methods: A cross-sectional study was conducted from 15 May – 15 June 2018, all children attended the center (80 children) were assessed by using the standard caries risk assessment tool of the American Academy of Pediatric Dentistry (AAPD). Results: The highest percentage of children was as follows: no fluoride exposure 44(55%), did not brush 46(5
... Show MoreObjectives: Determine the age and gender distribution of children who experience diabetes mellitus (DM) under
the age of 15 years and the presence of some associated factors that might be a predisposing factor for the
disease including obesity.
Methodology: A cross-sectional study was conducted at diabetic clinic in Children Welfare Teaching Hospital
in Baghdad City during 2006. The study sample included diabetic children less than 15 years of age. Data were
taken from the patients' record and by direct interview with the patients' parents. Information included
demographic data, as well as past history of the patient and his/her family relative to diabetes and other immune
diseases.
Results: Data analysis showed t
Background: Coronary artery disease remains the main cause of death despite several preventive programs. Epicardial adipose tissue is a visceral fat depot of the heart located along the large coronary arteries and on the surface of ventricles and apex. Intima media thickness is commonly recognized as the initial stage in the development of atherosclerosis. The development of ultrasound machines, advances in echocardiographic devices and high resolution transducers facilitate comprehensive analysis of epicardial fat thickness (EFT) and carotid –intima media thickness (C-IMT).
Aim: To investigate the relationship of echocardiographic epicardial fat thickness (EFT) and carotid –intima media thickness (C-IMT) with the severity of coro
Excessive skewness which occurs sometimes in the data is represented as an obstacle against normal distribution. So, recent studies have witnessed activity in studying the skew-normal distribution (SND) that matches the skewness data which is regarded as a special case of the normal distribution with additional skewness parameter (α), which gives more flexibility to the normal distribution. When estimating the parameters of (SND), we face the problem of the non-linear equation and by using the method of Maximum Likelihood estimation (ML) their solutions will be inaccurate and unreliable. To solve this problem, two methods can be used that are: the genetic algorithm (GA) and the iterative reweighting algorithm (IR) based on the M
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