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.
Background: Inflammatory bowel disease (IBD) is a collection of chronic, recurrent inflammatory illnesses of the gastrointestinal system, including Crohn's disease (CD). Infliximab is one of the biological medications used to treat CD. Therapeutic drug monitoring has evolved as a treatment in IBD, aiming to optimize benefit while meeting more demanding, objective end criteria. Objective: To determine the achievement of target trough level (TL), develop anti-drug antibodies (ADAs) to infliximab, assess response to therapy, and study TL relations with different variables. Methods: The present study was cross-sectional and conducted from May 2022 to November 2022. It included 40 CD patients allotted into 2 groups: group 1 patients ach
... Show MoreThe experiment was carried out at the Field Crops Research Station, College of Agricultural Engineering Sciences - University of Baghdad in Jadiriyah, with the aim of evaluating the performance of partial diallel hybrids and inbred lines of maize and estimating general combining ability(GCA), specific combining ability (SCA) and some genetic parameters. The experiment was carried out in two seasons, spring and fall 2020. Eight inbred lines of maize were used in the study (BI9/834, BSW18, LW/5 L8/844, ZA17W194, Z117W, ZI17W9, ZI7W4), numbered (1,2,3,4,5,6,7,8), It was sowed in the spring season and entered into a cross-program according to a partial diallel crossing system to obtain tw
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 MoreAbstract Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2. Peripheral blood samples were aspirated from all patients for troponin I and DNA testing. Molecular analysis to detect 12 common cardiovascular genetic risk factors using CVD StripAssay® (ViennaLab Diagnostics GmbH, Austria) was performed
... Show MoreInflammatory bowel disease includes both Crohn’s disease and ulcerative colitis, is a chronic, progressive relapsing disease of gastrointestinal tract that require long-term treatment or maintenance therapy. Taking patient’s beliefs about the prescribed medication in consideration had been shown to be an important factor that affects compliance of the patient in whom having positive beliefs is a prerequisite for better compliance. The aim of the current study was to investigate and assess beliefs about medicines among a sample of Iraqi patients with inflammatory bowel disease and to determine possible association between these beliefs and some patient-specific factors.
This study is a cross-sectional study carried out o
... Show MoreBackground: 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 MoreNA Nasir, SHM Ali, HQMA AL-Ess, WA Hussein, MKW Al-Janabi, KIA Mohammed, JM Mosa, Euromediterranean Biomedical Journal, 2020