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.
Diabetic kidney disease (DKD) is caused by a variety of processes. As a result, one biomarker is insufficient to represent the complete process. This study Evaluate the diagnostic value of serum kidney injury molecule-1(KIM-1) and cystatin C (CysC) as early biochemical markers of DKD and predictive their sensitivities and specificities as biomarkers of nephropathy in Iraqi type 2 diabetic (T2DM) patients. This cross-sectional study include 161 T2DM patients from Diabetes and Endocrinology Center at Merjan medical city in Babylon. Patients divided according to urinary albumin creatinine ratio(ACR) (Group1:ACR≤30mg/g,Group2:ACR>30mg/g). Random spot urine and fasting blood samples were taken from each patient and urinary ACR, bloo
... Show MoreBackground: Immune thrombocytopenia is an immune-related disorder that causes an impairment in platelet production and stimulates platelet destruction, causing variable bleeding symptoms. Objective: This study focuses on refractory immune thrombocytopenic purpura patients on romiplostim treatment and their level of illness perception related to treatment response. Method: A cross-sectional study was conducted from May 1st, 2025, to August 1st, 2025. Brief Illness Perception Questionnaires were administered to 84 patients with ITP to collect the data. The study took place at the Hematology and Bone Marrow Transplant Center, Medical City, Baghdad, Iraq. Results: The romiplostim response rate is 21 (25.0%), while the partial response rate is 4
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The research’s goal lies in demonstrating the impact of the Federal Financial Supervision Endowment through the process of auditing the performance of the entities subject to its audit as to improve the performance of these entities, especially if the performance audit method is one of the newly applied methods that are compatible with the standards issued by the International Organization of Financial Supervision and Accounting Institutions which is the method of auditing performance according to the performance evaluation guide for programs and policies issued by the Federal Office of Financial Supervision.
T
... Show MoreBACKGROUND: The rapidly growing knowledge regarding factors controlling tumour growth, with the new modalities of therapy acting on the biological activity of the tumours draw the attention of most cancer researches nowadays and represent a major focus for clinical oncology practice. For the detection of HER2/neu protein overexpression and gene amplification, immunohistochemistry (IHC) and in-situ hybridisation (ISH) is the recommended techniques, respectively, with high concordance between the two techniques. The current United Kingdom recommendations for HER2/neu testing are either for a two-tier system using IHC with reflex ISH testing in equivocal positive cases, or a one-tier ISH strategy. AIM: To compare the results of HER2/neu gene s
... Show MoreBackground: Fifteen percent of small for gestational age are small as a result of fetal growth restriction, which could be due to maternal, placental or fetal factors. It is an important clinical problem associated with increase perinatal mortality and morbidity. Leptin is a protein that produced by many tissues including the placenta (syncytiotropholoast). Dysregulation of leptin metabolism may be implicated in preeclampsia and IUGR pathogenesis.
Aim of the study: To study the trend of leptin level alteration in maternal serum and cord blood in pregnancies complicated by fetal growth restriction and its relation with fetal outcome.
Methods: An Analytic, cross- sectional study conducted in Al-Elwyia Maternity Teaching Hospital and
The researcher tackles the most outstanding conditions of experimentation, the importance of the study lies in being helpful to the workers in the field of theatre in general and directors in particular which the conditions of experimentation that should be taken.The study aims at knowing the experimental basis which the director (Sami Abdulhamid) followed in the realization of this.The researcher tackles in the First inquiry the concept of experimentation and the second tackles the conditions of experimentation.In the methodology of study the researcher analyzed the show of the "Othello in the Kitchen" and comes up to the following: 1. the dhows has cone with the nature of the previous shows experienced the methods that were not familia
... Show MoreRenal transplantation is a principal treatment option for end-stage kidney failure. Bone loss and fracture are serious complication of kidney transplantation, associated with morbidity and mortality. The pathogenesis of post transplantation bone loss is multifactorial and complex
Abstract Metabolic syndrome (MS) is a group of clinical and biological abnormalities included risk of insulin resistance , disorders in glucose metabolism , abdominal obesity and abnormal lipid profile these features confer a greater risk of cardiovascular diseases . Anyway, the co-occurrence of diabetes mellitus and metabolic syndrome potentiates the cardiovascular risk associated with each of the two conditions. The present study aimed to determine a relationship between prolactin level in type -2- diabetic Iraqi women and metabolic syndrome, as well to find a relationship between prolactin level and other studied biochemical markers. seventy menopausal diabetic women with metabolic syndrome with age in range (45-50) years were enrolled i
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