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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
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For
Relation Study between Chromogranin a and Other Clinical Biomarker in Iraqi Children with Growth Hormone Deficiency Undergo Treated Via Recombinant Growth Hormone
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Growth hormone deficiency is a condition that occurs when a limited volume of growth hormone is released by the pituitary gland since growth hormone deficiency causes growth delays, short stature, and overall physical development delays. symptoms differ based on the age at which they occur .Aim of this study Estimating the level of growth hormone serotonin ,IGF-1 and Chromogranin A before and after with treatment recombinant growth hormone and It is the first study in Iraq that sheds light on the relationship between Chromogranin and other variables ( somatostatin, IGF-1,GH) ,also the prediction of Chromogranin A as a newly biochemical marker in children with growth hormone deficiency. In this study, 30 samples were collected from children

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Publication Date
Fri Oct 23 2020
Journal Name
Medico-legal Update
Role of Endoscopic Ultrasound Guided Fine Needle Aspirate for Evaluating Lesions in or Adjacent to Gastrointestinal Tract: A Single Tertiary Care Center Experience
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Publication Date
Sat Feb 01 2020
Journal Name
Meta Gene
Interleukin-1 single nucleotide polymorphisms and risk of systemic lupus erythematosus among Iraqi patients
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Publication Date
Tue Dec 20 2011
Journal Name
المؤتمر الدولي الثالث للاحصائيين العرب
Use a form ARX(p,q) to estimate time series for the Iraqi Economy
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Due to the lack of statistical researches in studying with existing (p) of Exogenous Input variables, and there contributed in time series phenomenon as a cause, yielding (q) of Output variables as a result in time series field, to form conceptual idea similar to the Classical Linear Regression that studies the relationship between dependent variable with explanatory variables. So highlight the importance of providing such research to a full analysis of this kind of phenomena important in consumer price inflation in Iraq. Were taken several variables influence and with a direct connection to the phenomenon and analyzed after treating the problem of outliers existence in the observations by (EM) approach, and expand the sample size (n=36) to

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Publication Date
Sun Dec 12 2021
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Gender Differences in Adverse Drug Reactions Among Adult Patients Reported to the Iraqi Pharmacovigilance Center
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For many years it was argued that there may be a gender differences in adverse drug reactions (ADRs). This assumption was based on many possible factors such as hormonal or behavior differences, and it was not clearly identified since the female gender was not preferred to be enrolled in many clinical trials. The primary aim of this study was to assess the extent of possibly relevant gender differences in drug–ADRs regarding causality, severity, preventability, seriousness, expectedness and outcome. While the secondary aim was to assess for which group of drugs and for which ADRs gender differences are identified most often. The study was a retrospective one that depends on processing a specially selected group of data obtained from th

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Publication Date
Tue Jun 30 2020
Journal Name
Membranes
Experimental and Theoretical Analysis of Lead Pb2+ and Cd2+ Retention from a Single Salt Using a Hollow Fiber PES Membrane
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The present work reports the performance of three types of polyethersulfone (PES) membrane in the removal of highly polluting and toxic lead Pb2+ and cadmium Cd2+ ions from a single salt. This study investigated the effect of operating variables, including pH, types of PES membrane, and feed concentration, on the separation process. The transport parameters and mass transfer coefficient (k) of the membranes were estimated using the combined film theory-solution-diffusion (CFSD), combined film theory-Spiegler-Kedem (CFSK), and combined film theory-finely-porous (CFFP) membrane transport models. Various parameters were used to estimate the enrichment factors, concentration polarization modulus, and Péclet number. The pH values signif

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Publication Date
Wed Jan 01 2020
Journal Name
Annals Of Tropical Medicine And Public Health
Determination of hepcidin (25) level in hemodialysis Iraqi male patients and its relation with erythropoietin and some biochemical parameters
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Background: Anemia is a common finding in patients with renal failure disease and it is, primarily, due to reduced production of iron and erythropoietin. Therefore, the aim of current study was to evaluate the relationship between serum level of hepcidin 25, on the one hand, and levels of serum iron, total iron-binding capacity, serum erythropoietin and transferrin saturation% in Iraqi male patients undrgoning haemodialysis.. Methods: Serum from75 males in the end stage of hemodialysis, as group one, and 25 Iraqi healthy malecontrols, as group two, were recruited in this study. Results: Data from current study showed significant increase in hepcidin 25 and significant decrease in serum iron, total iron-binding capacity, transferrin saturati

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Publication Date
Thu Apr 01 2021
Journal Name
Annals Of The Romanian Society For Cell Biology
Evaluation of Nesfatin – 1 and Other Biochemical Markers in diabetic Neuropathy Iraqi patients before and after treatment with tegretol
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Diabetic neuropathy is a form of nerve damage that can occur in people who have diabetes. High blood sugar (glucose) induced nerve damage in every part of the body. The nerves in the legs and feet were the most frequently affected. The extent to which a diabetic patient's body is impaired is calculated by the degree of nervosa harm.The purpose of this present study is estimation BMI,IL-10 , nesfatin-1 and HS-CRP in Iraqi DN patients before and after treatment via tegretol as well as it is the first study sheds light on the relationship between Nesfatin -1 and other parameters ( BMI,IL-10 and HS-CRP) also predication of Nesfatin-1 as a newly biomarker in patients with diabetic neuropathy. The present study consist of from 30 cohort G1 as hea

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Publication Date
Mon Sep 23 2024
Journal Name
Medical Journal Of The Islamic Republic Of Iran
The Association of Neutrophil to Lymphocyte Ratio and Other Complete Blood Count Parameters with Global Registry of Acute Coronary Events Risk Score in Patients with Non-ST Segment Elevation – Acute Coronary Syndrome: A Single-Center Study
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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)
Analysis of Docetaxel Adverse Drug Reactions: A Retrospective Study Based on Iraqi Pharmacovigilance Center Database
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Docetaxel is an effective treatment approved for many types of cancers, but its effectiveness in clinical practice can be compromised by significant occurrence of adverse drug reactions. The aim of the current study was to measure the distribution of adverse drug reactions of docetaxel reported in Iraq and to assess the causality, severity, seriousness, preventability, expectedness and outcome of these adverse reactions. A retrospective study conducted on individual case safety reports from the Iraqi Pharmacovigilance Center / Ministry of Health. The study included 118 individual case safety report containing 236 adverse drug reactions.
Most of the adverse drug reactions were related to skin and subcutaneous tissue disorders(26.7%), f

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