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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
Fri Mar 01 2019
Journal Name
Research Journal Of Biotechnology
The etiological role of Chlamydia pneumoniae and Mycoplasma pneumoniae infections in systemic lupus erythematosus of iraqi female patients
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Recently, Systemic lupus erythematosus (SLE) was considered as one of the autoimmune diseases that the genetic and environmental factors contributed in the disease etiological profile. According to the environmental factors, infectious agents have been concluded to have a role in the etiology and pathogenesis of SLE. Chlamydia pneumoniae and Mycoplasma pneumoniae are among these infectious agents that have been suggested to be involved in the etiology of SLE. Accordingly, the current study was designed to assess the anti-C. pneumoniae and anti-M. pneumoniae IgG antibody status by enzyme linked immunosorbent assay (ELISA) in the sera of 64 Iraqi SLE females' patients and 32 Iraqi healthy females as controls. The patients' group were distribu

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Publication Date
Wed Dec 24 2025
Journal Name
Baghdad Science Journal
Comparison of XRF and ICP-OES Methods to Determine Trace Element Concentrations of Kidney Stones in Iraqi Patients
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Publication Date
Sun Jun 20 2021
Journal Name
Bulletin Of The Iraq Natural History Museum (p-issn: 1017-8678 , E-issn: 2311-9799)
SPERGULARIA IRAQENSIS (CARYOPHYLLACEAE), A NEW SPECIES FROM IRAQ
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Spergularia iraqensis sp. nov. is described as a new species from Iraq. This species has been collected from Diyala Province in the central east of Iraq; it is closely related to Spergularia rubra (L.) J. Presl & C. Presl, 1819 and Spergularia bocconei (Scheele) Graebn., 1919.
The distinguishing of the morphological characteristics of the new species alongside the two similar species are discussed with photographs, and an identification key is given for Spergularia iraqensis and other closely related species.

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Publication Date
Fri Mar 01 2013
Journal Name
Journal Of Economics And Administrative Sciences
Stability testing of time series data for CT Large industrial establishments in Iraq
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Abstract: -
The concept of joint integration of important concepts in macroeconomic application, the idea of ​​cointegration is due to the Granger (1981), and he explained it in detail in Granger and Engle in Econometrica (1987). The introduction of the joint analysis of integration in econometrics in the mid-eighties of the last century, is one of the most important developments in the experimental method for modeling, and the advantage is simply the account and use it only needs to familiarize them selves with ordinary least squares.

Cointegration seen relations equilibrium time series in the long run, even if it contained all the sequences on t

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Publication Date
Fri Jun 04 2021
Journal Name
Oral Surgery
Calcifying epithelial odontogenic tumour series with unique clinical and histopathological features
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Abstract<sec><title>Background and aims

Calcifying epithelial odontogenic tumour (CEOT) is a benign odontogenic neoplasm of epithelial origin that secretes an amyloid‐like protein tending towards calcification. This study aims to describe a case series from Iraq of one of the rarest odontogenic tumours.

Materials and methods

Clinical and histopathological analysis of Calcifying epithelial odontogenic tumour cases that are archived at the oral pathology laboratory of the college of dentistry (Baghdad University) from 2000 to 2019.

Results

Six cases of CEOT were regi

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Publication Date
Wed Nov 01 2023
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
The Impact of Implementing a Pharmacist-led Deprescribing Program on Medication Adherence among Hemodialysis Patients
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Background: One way to target polypharmacy and inappropriate medication in hemodialysis (HD) patients is with medication deprescribing. Objective: To assess the impact of implementing a pharmacist-led deprescribing program on medication adherence among HD patients. Method: A prospective interventional, one-group pretest-posttest-only design study was conducted at a hemodialysis center in Wasit Governorate, Iraq. Medication reconciliation followed by medication review based on the deprescribing program was done for all eligible patients, and the patients were monitored for three months for any possible complications. Results: Two hundred and seventy patients were screened for eligibility. Only one hundred and eighteen were enrolled i

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Publication Date
Tue Mar 28 2017
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
The Relationship between ABO Blood Group Distribution and the incidence of Upper Gastric and Duodenal Ulcer in Iraqi Patients
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The relationship between blood group antigens and peptic ulcer disease has been widely evaluated in the past, but only one study relating H pylori seroprevalence to ABO blood groups among Iraqi patients with peptic ulcer disease is available. We aimed to evaluate the frequency of peptic ulcer disease among different ABO blood groups in Iraqi patients, and we thought it was worthwhile to try to determine whether these components take some part in disease etiology. One hundred and six patients with peptic ulcer disease (PUD) (43 male and 63 female; mean  age: 48 ± 18 years) who attended Baghdad teaching hospital and Al- Yarmouk teaching hospital endoscopy centers were enrolled , and 238 control Subjects.  Fing

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Publication Date
Tue Jan 01 2019
Journal Name
Asian Journal Of Chemistry
Oxidative Stress Status in Sera and Saliva of Type 2 Diabetic Iraqi Patients with and without Proliferative Diabetic Retinopathy
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The present study aimed to look for the differences in the oxidative stress status in sera and saliva samples of type 2 diabetic Iraqi patients with and without proliferative diabetic retinopathy. As well as to look for the possibility whether this status can be measured in saliva as an alternative sample to that of serum, hence to achieve that total oxidant status, total antioxidant status and oxidative stress index were measured in both sera and saliva samples of two groups of patients with type 2 diabetes mellitus and the healthy individuals. Upon the comparison between patients without proliferative diabetic retinopathy and the control sample the results showed presence of a significant increase (p < 0.05) of total oxidant st

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Publication Date
Sun Jul 30 2023
Journal Name
Iraqi Journal Of Science
Screening of periodontal disease related Bacteria in Iraqi patients and their relationship with salivary TLR2 and IL-6 level
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     The oral cavity has the second major and most diverse microflora after the gut. Since it is the starting point of digestion; the oral microbiota is essential for maintaining oral and systemic health.  Thus, this study aimed to find the bacterial isolates which act as a causative agent of periodontal diseases in Iraqi patients and their relation with some immune oral parameters. Saliva specimens and oral swabs of 91 patients (51) and control individuals (40) were collected in this study. The specimens of patients were collected from Al-Amirya and Almaamon Specialized Dental Centers in Baghdad for a period from November/2021 to February/2022. The microbiological results revealed, that the most prevalent bacterial isolates we

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Publication Date
Fri Apr 04 2025
Journal Name
Al-rafidain Journal Of Medical Sciences ( Issn 2789-3219 )
Role of Kisspeptin-1 and Growth Differentiation Factor-15 in Iraqi Patients with Metastatic and Non-metastatic Colorectal Cancer
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Abstract Background: Colorectal cancer (CRC) is a leading cause of cancer mortality worldwide. Identifying novel biomarkers is critical for improving diagnosis, prognosis, and treatment strategies. This study investigates the serum levels of kisspeptin-1 (KISS1), its receptor (KISS1R), growth differentiation factor 15 (GDF15), and carcinoembryonic antigen (CEA) in Iraqi CRC patients. Objectives: Explore associations between serum levels of Kiss1, Kiss1R, GDF, and CEA and disease progression in Iraqi patients with CRC. Methods: A case-control study was conducted, including 72 CRC patients and 36 healthy controls. Patients were stratified into non-metastatic and metastatic groups. Serum biomarker levels were measured using enzyme-link

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