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.
The growth curves of the children are the most commonly used tools to assess the general welfare of society. Particularity child being one of the pillars to develop society; through these tools, we can path a child's growth physiology. The Centile line is of the important tools to build these curves, which give an accurate interpretation of the information society, also respond with illustration variable age. To build standard growth curves for BMI, we use BMI as an index. LMSP method used for finding the Centile line which depends on four curves represents Median, Coefficient of Variation, Skews, and Kurtosis. These can be obtained by modeling four parameters as nonparametric Smoothing functions for the illustration variable. Ma
... Show MoreNA Nasir, SHM Ali, HQMA AL-Ess, WA Hussein, MKW Al-Janabi, KIA Mohammed, JM Mosa, Euromediterranean Biomedical Journal, 2020
Background: Little is known about asymmetry of children's dental arches, the purpose of this study was to verify the presence of asymmetry of dental arches among Iraqi children in the mixed dentition stage. Materials and methods: The sample included 52 pairs of dental casts, 27 pairs belong to males and 25 pairs for females. Three linear distances were utilized on each side on the dental arch: Incisal-canine distance, canine-molar distance and incisal-molar distance, which represent the dental arch segmental measurements using the digital sliding calipers, which is accurate up to 0.02 mm. Results: No significant sides' differences with high correlation coefficient were found between the right and left incisal-canine, canine-molar and in
... Show MoreBackground/Aim: The timing of a tooth's eruption can be affected by a variety of factors. The nutritional status has an impact on the development of a child's body. The purpose of the study was to analyse the number of children aged 6 to 9 in an Iraqi Arab population who had erupted permanent first molars and to examine how nutritional status affected the timing and level of emergence. Methods: A total of 330 boys and girls, in first grade elementary school, made up the sample. First molars that had erupted were noted, along with the level of the eruption. Each child's nutritional status was evaluated by recording their height and weight and body mass index (BMI) value was compared to the 2007 WHO reference. Results: Girls had highe
... Show MoreAnkylosing spondylitis (AS) is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. This study was aimed to investigate the relationship between the rs27044 polymorphism in Endoplasmic reticulum aminopeptidase-1 (ERAP-1) with the susceptibility and severity of AS correlated with some biochemical markers such as hematological parameter (Erythrocytes sedimentation rate (ESR)) and immunological parameters (C-reactive protein (CRP), Human leukocyte antigen-B27 (HLA-B27), Interlukin-6 (IL-6) and Interlukin-23 (IL-23)), and oxidative stress parameters (Glutathione (GSH) and Malondialdehyde (MDA)) in a sample of Iraqi population. A total of 60 blood samples were collected from AS patients requited Rhe
... Show MoreIn this paper, we build a fuzzy classification system for classifying the nutritional status of children under 5 years old in Iraq using the Mamdani method based on input variables such as weight and height to determine the nutritional status of the child. Also, Classifying the nutritional status faces a difficult challenge in the medical field due to uncertainty and ambiguity in the variables and attributes that determine the categories of nutritional status for children, which are relied upon in medical diagnosis to determine the types of malnutrition problems and identify the categories or groups suffering from malnutrition to determine the risks faced by each group or category of children. Malnutrition in children is one of the most
... Show MoreThe research was conducted between 2017 and 2019 at the College of Agricultural Engineering Sciences and Laboratory of Plant Tissue Culture for Postgraduate Studies at the University of Baghdad. One experiment used a totally random design. The experiment examined the effects of PEG (Polyethylene glycol) at concentrations of 0, 2, 4, 6, and 8% on the development of three sunflower types (Ishaqi-1, Aqmar, and AL-Haja) exposed to UV-C rays for 40 minutes as a result of the growing of the juvenile peduncle outside the live body. The aim of the study was to better comprehend the physiological and biochemical changes caused by water stress on the callus of several sunfl
AbstractBackground:Reduced glomeular filtration rate isassociated with increasedmorbidity in patientswith coronary arterydisease.Objectives :To analyze the declining eGFR andmortality risks in a patients with Chronic KidneyDisease and have had Coronary Artery Diseaseincluding risk factors .Patientsand Methods:The study included (160)patientsbetween the ages of 16 and 87years.Glomerular filtration rate was estimated (eGFR)using the Modification of Diet in Renal Diseaseequationand was categorized in the ranges<60 mL· min−1 per 1.73 m2and≥ 60 ml/min/1.73 m2.Baseline risk factors were analyzed by category ofeGFR,.The studied patients in emergencydepartment, were investigatedusing Coxproportional hazard models adjusting for traditiona
... Show MoreOne of the most common public liver diseases over the world is fatty liver which contain alcoholic and non-alcoholic fatty liver. One-fourth among general population are impact Non-Alcoholic Fatty Liver Disease (NAFLD) in the worldwide.Retinol binding protein 4 (RBP4) is known as an adipokine, mainly synthesized and secreted from the liver and form adipose tissues. RBP4 acts as a transporter and specifically bound to retinol from liver to others tissues. Visfatin is an adipocytokine and mainly produced from visceral fat tissue, skeletal muscles as well as liver. Vitamin A absorbed, transported as retinyl esters to the liver then hydrolyzed to the retinol form and storage in hepatic stellate cells (HSCs) after reesterified with rigly
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