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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
Tue Feb 27 2024
Journal Name
Pharmacia
Association of the rs1801133 and rs1801131 polymorphisms in the MTHFR gene and the adverse drug reaction of methotrexate treatment in a sample of Iraqi rheumatoid arthritis patients
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Background: Methotrexate is one of the mainstays for treating rheumatoid arthritis (RA) with a wide range of adverse drug reactions, however, it’s the relationship between adverse drug reactions and genetic polymorphism remains to be highlighted, and there is a lack of studies concerning Arabic Iraqi population regarding this aspect.

Objective: Evaluate the association between genetic mutations in the MTHFR gene in SNPs (rs1801133G>A and rs1801131T>G) on the adverse drug reaction for RA Iraqi patients.

Methods: An observational study, that involved 95 Iraqi RA patients with established RA. Patien

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Publication Date
Thu Dec 25 2025
Journal Name
Sultan Qaboos University Medical Journal
Clinical and Molecular Analysis of ATP7B Variants Identified by Next-Generation Sequencing in Iraqi Adults With Wilson Disease
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Objectives: This study aimed to identify and analyse ATP7B variants in Iraqi adults with Wilson disease (WD) by long-read next-generation sequencing. Methods: This cross-sectional study was conducted at the Poisoning Consultation Center at Ghazy Al-Hariri Hospital for Surgical Specialties and the Gastroenterology Consultation Clinic at Baghdad Teaching Hospital, Medical City in Baghdad, Iraq. Unrelated patients with clinical and biochemical features suggestive of WD were recruited between October 2022 and October 2023. DNA was extracted from peripheral blood samples. Variants in the ATP7B gene were identified using long-read next-generation sequencing and then analysed by in-silico tools. Results: A total of 45 patients were recruited in

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Publication Date
Thu Feb 01 2024
Journal Name
Russian Journal Of Bioorganic Chemistry
Synthesis, Characterization of Formazan Derivatives from Isoniazid and Study Their Antioxidant Activity and Molecular Docking
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Objective: Synthesis, Characterization of formazan derivatives and studies the antioxidant activity of prepared compounds and molecular docking. Methods: In this study, formazan compounds (III–XIV) were produced by combining Schiff base compounds (I), (II) with diazonium salts resulting from reactions of different aromatic amines with sodium nitrate in the presence of Con.HCl at 0–5°C. When isonicotinic acid hydrazide reacts with (N,N-dimethylbenzaldehyde, 4-hydroxy-3-methoxybenzaldehyde) in the presence glacial acetic acid as a solvent Schiff base compounds are created. Results: The prepared compounds were identified by FT-IR, 1H NMR, 13C NMR, then the antioxidant activity of the derivatives and molecular docking were studied. D

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Publication Date
Fri Dec 03 2021
Journal Name
Baghdad Journal Of Biochemistry And Applied Biological Sciences
A clinical-statistical study on COVID-19 infection and death status at the Alshifaa Healthcare Center/ Baghdad
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Background: COVID-19 is an ongoing disease that caused, and still causes, many challenges for humanity. In fact, COVID-19 death cases reached more than 4.5 million by the end of August 2021, although an improvement in the medical treatments and pharmaceutical protocols was obtained, and many vaccines were released. Objective: To, statistically, analyze the data of COVID-19 patients at Alshifaa Healthcare Center (Baghdad, Iraq). Methods: In this work, a statistical analysis was conducted on data included the total number, positive cases, and negative cases of people tested for COVID-19 at the Alshifaa Healthcare Center/Baghdad for the period 1 September – 31 December 2020. The number of people who got the test was 1080, where 424 w

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Publication Date
Wed Mar 29 2023
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
Correlation of Insulin Like Growth Factor-1 and Insulin-Like Growth Factor Binding Protein with LH, FSH and Testosterone in Iraqi Children with Growth Hormone Deficiency
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Insulin like growth factor-1 has metabolic and growth-related roles all over the body and is strongly associated and regulated by growth hormone. It is produced by almost any type of tissue, especially the liver. The study aimed to measure insulin like growth factor in growth hormone deficient patients and find its relation with other studied parameters. The Subjects in the study were 180 studied in the National Diabetic Center for Treatment and Research/Al-Mustansiriya University in Baghdad/Iraq for the period from November 2021 to April 2022. Blood was drawn and investigated for the levels of IGF-1, IGFBP-3, LH, and FSH. Also testosterone and statistical analysis was carried out to find the potential correlations. The results relived t

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Publication Date
Thu Jun 25 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Evaluating the Clinical Outcomes of Three Medication Regimens for Treating a Sample of Iraqi Persistent Asthmatic patients
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Abstract

    Asthma is a complex disease defined by chronic airway inflammation and airflow limitation causing variable respiratory symptoms which include shortness of breath (SOB), wheezing, chest tightness and cough. Asthma guidelines advocate adding a second long acting bronchodilator to medium doses of inhaled corticosteroids (ICS) rather using high doses of ICS alone to control moderate to severe persistent asthma. The aim of this study was to evaluate the clinical outcomes of three medication regimens indicated for Iraqi patients suffering from persistent asthma. 

    This study was interventional randomized clinical study conducted on a sample of adult Iraqi asthm

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Publication Date
Thu Jun 25 2020
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn: 1683 - 3597 , E-issn : 2521 - 3512)
Evaluating the Clinical Outcomes of Three Medication Regimens for Treating a Sample of Iraqi Persistent Asthmatic patients
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Abstract     Asthma is a complex disease defined by chronic airway inflammation and airflow limitation causing variable respiratory symptoms which include shortness of breath (SOB), wheezing, chest tightness and cough. Asthma guidelines advocate adding a second long acting bronchodilator to medium doses of inhaled corticosteroids (ICS) rather using high doses of ICS alone to control moderate to severe persistent asthma. The aim of this study was to evaluate the clinical outcomes of three medication regimens indicated for Iraqi patients suffering from persistent asthma.      This study was interventional randomized clinical study conducted on a sample of adult Iraqi asthmatic patients in Baghdad City. The study com

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Publication Date
Mon Dec 28 2020
Journal Name
The Iraqi Journal Of Veterinary Medicine
Isolation and Molecular Identification of Nontuberculous Mycobacterium from Different Species of Fish in Karbala Province, Iraq
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This study was designed for isolation and molecular identification of Nontuberculous Mycobacterium (NTM) from fish during the period between October and December 2017 from Karbla province, Iraq. This study included 200 fresh fish samples from four different species including Spondyliosoma cantharus, Liza abu, Carassius carassius and Cyprinuscarpio. Three samples of each fish were taken including gills, muscles and all internal organs. The samples were processed by decontamination, concentration of 4% sodium hydroxide, and 0.1 ml of sediment was streaking on Löwenstein Johnson (LJ) media; then the bacterial cultures were incubated at 28-30 °C for 3days up to 4 weeks and suspected colonies were stained with acid fast stain to confir

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Publication Date
Thu Mar 01 2018
Journal Name
Case Studies In Thermal Engineering
The temperatures distributions of a single-disc clutches using heat partitioning and total heat generated approaches
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Publication Date
Wed Sep 14 2016
Journal Name
Journal Of Baghdad College Of Dentistry
Salivary Immunoglobulin A Assessment in Lymphoma Patients before and after Chemotherapy
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Background: Lymphomas are group of diseases caused by malignant lymphocytes that accumulate in lymph nodes and caused the characteristics lymphadenopathy. Occasionally, they may spill over into blood or infiltrate organs outside the lymphoid tissue. The major subdivision of lymphomas is into Hodgkin lymphoma and non–Hodgkin lymphoma and this is based on the histologic presence of Reed-Sternberg cells in Hodgkin lymphoma. Salivary immunoglobulin A is the prominent immunoglobulin and is considered to be the main specific defense mechanism in oral cavity. The aim of this study was to determine the level of salivary immunoglobulin A in lymphoma patients before and after chemotherapy treatment. Subjects, materials and methods: The study i

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