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Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center
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Objectives Acid sphingomyelinase deficiency (ASMD) is an inherited autosomal recessive disease caused by pathogenic variants in the sphingomyelin phosphodiesterase-1 (SMPD1) gene, which encodes acid sphingomyelinase (ASM). ASMD has 3 broad phenotypes (type A, type A/B, and type B) characterized by the age of onset, symptomatology, and the rapidity of disease progression. The diagnosis of ASMD can be delayed or missed because of the wide spectrum of severity and its variable manifestations. Analysis of genotype-phenotype correlations can help to determine ASMD disease type and inform management. Here, we describe the clinical presentation of 47 patients with ASMD referred to a single center in Iraq since 2007, whose diagnosis was confirmed by gene sequencing and ASM activity. Study design This was a retrospective observational cohort study of patients diagnosed with ASMD in Iraq. Results The cohort included 47 patients with ASMD. A positive family history and consanguinity were noted in 66% and 98% of these cases, respectively. Hepatosplenomegaly, anemia, and thrombocytopenia were present in 100%, 79%, and 44% of patients, respectively. Notably, dysmorphic features were observed in 23% of cases. Thirteen SMPD1 variants were present in this cohort, the most common of which were c.1556A > G (p.Tyr519Cys), c.740delG (p.Gly247Alafs*10), c.967A > C (p.Ser323Arg), and c.1267C > T (p.His423Tyr). Three of the variants identified were novel, specifically c.967A > C (p.Ser323Arg), c.1579A > G (p.Asn527Asp), and c.905C > T (p.Thr302Ile). Conclusions Physicians assessing infants and children who present with hepatosplenomegaly or anemia and dysmorphic features should have a high index of suspicion for ASMD, particularly in regions with high rates of consanguineous unions.

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Publication Date
Wed May 11 2022
Journal Name
Journal Of Economics And Administrative Sciences
Comparing Some Methods For A single Imputed A missing Observation In Estimating Nonparametric Regression Function
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In this paper, we will study non parametric model when the response variable have missing data (non response) in observations it under missing mechanisms MCAR, then we suggest Kernel-Based Non-Parametric Single-Imputation instead of missing value and compare it with Nearest Neighbor Imputation by using the simulation about some difference models and with difference cases as the sample size, variance and rate of missing data.      

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Publication Date
Mon Jan 01 2024
Journal Name
Baghdad Science Journal
Study of the Anticancer and Antimicrobial Biological Activity of a New Series of Thiohydantoin Derivatives
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        Recently, some prostate cancer patients have acquired resistance to the second -generation drugs (anzalutamide and apalutamide) prescribed for the treatment of this disease due to the emergence of the F876L mutation, which represents a challenge to modern medicine. In this study, a new series of 2-thiohydantoin derivatives were prepared through the reaction of different derivatives of maleimide (1c-4c) with isothiocyanate derivatives. The prepared compounds were diagnosed using FT-IR,1H-NMR ,13C-NMR, Mass spectra. The prepared series compounds has been studied against prostate cancer cells. The MTT assay was used to determine the activity of the prepared compounds against prostate cancer cells. The da

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Publication Date
Mon Nov 02 2020
Journal Name
International Journal Of Pharmaceutical Research
Serum Afamin As A Novel Biomarker for Non-Alcoholic Fatty Liver Disease as A Complication of Hypothyroidism in Iraqi Patients.
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Publication Date
Thu Dec 28 2023
Journal Name
Journal Européen Des Systèmes Automatisés
Design of a Hybrid Adaptive Controller for Series Elastic Actuators of Robots
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Publication Date
Sun Dec 27 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn: 1683 - 3597 , E-issn : 2521 - 3512)
Estimation of Beta Two Microglobulins, Fetuin-A, Resistin Serum Level in Iraqi Multiple Myeloma Patients
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Multiple myeloma is hematological disease produces many complications in the bone, kidney, neural and other complications. The study aims to measure serum biomolecules like fetuin-A and resistin and determined the possibility to use these biomarkers as disease predictor. blood samples were isolated from 58 patients and 24 sex and age-matched control, serum then isolated, and proper ELISA kit then used to a determined level of B2 microglobulin, resistin, and fetuin-A. The result demonstrated significant increase in   B2 microglobulin, fetuin-A and resistin in patients compare to control (1.3470.714 vs. 0.9130.253), p = 0.000, (14.00310.352 vs. 9.2594.264), p= 0.005, (1.9673.595 vs. 0.6040.622), p = 0.009, respectively.   These di

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Publication Date
Tue Apr 28 2026
Journal Name
Baghdad Science Journal
Clinical Implications of Circulating miRNA-200a and Mucin 16 in Late-Stage Colorectal Cancer: A Study in Iraqi Patients
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Background: Colorectal cancer, the most common gastrointestinal cancer, is a significant health issue globally. Mucin 16 plays a critical role in cancer signal transduction pathways and is a potential glycoprotein target for cancer therapy. The miRNA-200 family also regulates the expression of numerous genes that play vital roles in cancer cells. This study aimed to investigate the changes in mucin 16 and miRNA-200a in patients with colorectal cancer (CRC). Subjects and Methods: Fifty-six patients with CRC, including 26 in stage 3 and 30 in stage 4, were included in this study, along with 38 healthy volunteers as a control group. Parameters such as mucin 16, miRNA-200a, total protein, albumin, globulin, and the albumin/globulin rati

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Publication Date
Fri Jun 16 2023
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Clinical significance of Osteoprotegerin, Vitamin D, Obestatin and some biochemical variables in Kidney failure Patients
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Chronic kidney disease (CKD) is described as an abnormalities of renal function, existing for a long period of time. By reason of the early grades of Chronic kidney disease can be experiences no symptoms, its premature identification is strenuous. initial stage CRD can cause various complications, such as anemia, matabolyic disorders of bone mineral. The study was done to assess the effect the chronic renal disease stage on the Osteoprotegerin, 1,25 dihydroxyvitamin D, Obestatin levels and some biochemical parameters in patients not undertaken dialysis therapy. In this case-control study fifty-five patients with Kidney failure and fourty healthy people were examined. Circulating concentrations of Osteoprotegerin, 1,25 dihydroxyvitamin D

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Publication Date
Mon Jun 22 2026
Journal Name
Journal Of Baghdad College Of Dentistry
Oral manifestation biochemical and IgA analysis of saliva in hyperthyroid (Grave’s disease) patients(Comparative study)
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Background: Hyperthyroidism occurs due to over production of thyroid hormones, one types of hyperthyroidism was Graves, disease. Hyperthyroidism is characterized by high level of serum thyroxin, triiodothyronine and low level of thyroid stimulated hormones. Material and Methods: fifty two hyperthyroid patients, thirty patients under treatment with carbimazole and other twenty two patients under treatment with radioactive iodine, and sixty healthy control group. The average salivary flow rate was calculated as ml/5mint.The concentration of calcium, potassium, and total protein were determined in the salivary supernatant sample. This is done through different biochemical tests. Determination of salivary IgA is done by ELIZA. Results: The most

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Publication Date
Mon Sep 01 2025
Journal Name
Journal Of Cancer Research Updates
Hematological Parameters in Liver Metastasis: A Comprehensive Clinical Evaluation for Early Detection in Iraqi Patients
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Background: Liver metastasis significantly complicates cancer prognosis, yet easily accessible markers for its early detection and monitoring remain crucial. This study aimed to comprehensively evaluate key hematological parameters as potential indicators for liver metastasis in Iraqi patients. Methods: We conducted a cross-sectional study comparing hematological profiles between 90 patients (presumably with liver metastasis) and 30 healthy controls. White Blood Cell (WBC) count, Lymphocyte percentage, Neutrophil percentage, and Neutrophil-to-Lymphocyte Ratio (NLR) were analyzed. Given non-normal data distributions (confirmed by the Shapiro-Wilk test), group comparisons were performed using the non-parametric Mann-Whitney U test.

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Publication Date
Mon Jan 01 2024
Journal Name
Baghdad Science Journal
Molecular Identification of Methylorubrum extorquens using PCR-Amplified MxaF Gene Fragments as A Molecular Marker
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  Methylotrophs bacteria are ubiquitous, and they have the ability to consume single carbon (C1) which makes them biological conversion machines. It is the first study to find facultative methylotrophic bacteria in contaminated soils in Iraq. Conventional PCR was employed to amplify MxaF that encodes methanol dehydrogenase enzyme. DNA templates were extracted from bacteria isolated from five contaminated sites in Basra. The gene specific PCR detected Methylorubrum extorquens as the most dominant species in these environments. The ability of M. extorquens to degrade aliphatic hydrocarbons compound was tested at the laboratory. Within 7 days, gas chromatographic (GC) studies of remaining utilize

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