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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
Mon Dec 21 2015
Journal Name
Al-mustansiriyah Journal Of Science
A comparative Study of Adiponectin and Oxidative Stress (malondialdehyde and peroxynitrite) levels in Iraqi Patients with Acromegaly
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The aim of this study is to find a relationship between oxidative stress and adiponectin in Iraqi patients with acromegaly. The present study included 30 patients with acromegaly disease attending at Al-Yarmuk teaching hospital , and 30 healthy individuals as a control group.The two groups with ages ranging (30-55) years. The results revealed a highly significant elevation in all parameters (GH,IGF-1 , adiponectin , malondialdehyde , and peroxynitrite ) levels in sera of patients when compared with healthy control .It can be concluded that oxidative stress (malondialdehyde and peroxynitrite ) may be valuable in detecting of endocrine diseases like acromegaly .

Publication Date
Mon Apr 04 2022
Journal Name
Neuroquantology
The Role of Adropin as a Novel Biomarker in Iraqi Patients with Parkinson's Disease and Osteoporosis
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Publication Date
Sun Oct 01 2023
Journal Name
Asian Pacific Journal Of Cancer Prevention
Immunohistochemical study of the expressed cluster differentiation markers proteins type 20 and 56 in breast tissues from a group of Iraqi patients with breast cancers
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Publication Date
Thu Mar 30 2023
Journal Name
Al-mustansiriyah Journal Of Science
CA72-4 as a Promising Prognostic and Diagnostic Biomarker in Iraqi Patients with Colorectal Cancer
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Colorectal cancer (CRC), the second most fatal cancer and the 3rd most common cancer is expected to cause 0.9 million deaths globally in 2025. Carcinoembryonic antigen (CEA) is currently used in the follow-up of patients with colorectal cancer, and in this study, we are trying to find a better marker than CEA in following up on patients' health and knowing the effectiveness of the treatment used and as a diagnostic marker for colorectal cancer. To determine the significance of Cancer antigen 72-4 (CA72-4) as a prognosis predictor in patients with colorectal cancer, compare its prognostic validity to the CEA biomarker. this case-control study includes (150) participants, 100 patients (59 males and 41 females), and 50 healthy controls

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Publication Date
Sun Dec 05 2010
Journal Name
Baghdad Science Journal
Immunoglobulins assessment (IgE,G,A,M) in some Iraqi patients with acute and chronic urticaria
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60 patients diagnosed as having urticaria were included in the study ; 30 patients were effected with acute urticaria and 30 patients were affected with chronic urticaria. In addition, 30 healthy adult volunteers were selected as control group .The patients and control groups sera were examined with enzyme linked immunosorbent assay ( ELISA) to detect total level IgE and radial immunodiffusion (RID) to detect levels of IgG , IgA and IgM . The total level of IgE in acute urticaria ( 1.45±0.13) IU/mL and chronic urticaria (2.12 ± 0.10) IU/mL patients were significantly higher than the control groups ( 0.85 ± 0.10)IU/mL (p<0.05). The level of IgG in acute urticaria ( 12.5± 0.42) g/L and chronic (13.16±0.40) g/L patients , IgA in acute (2.

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Publication Date
Sun Jan 01 2023
Journal Name
Gastroenterology Review
The impact of sofosbuvir/ledipasvir on chronic hepatitis C-infected paediatric patients: a Middle East single-centre experience
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Publication Date
Sun Jun 01 2014
Journal Name
Baghdad Science Journal
The role of TNF-? in the pathogenesis of multiple myeloma “a study in Iraqi patients”
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During recent years, there has been an increasing interest in the investigation of the cytokines roles in pathogenesis of cancer, thus the study aimed at evaluating the level of tumor necrosis factor-alpha(TNF-?) in sera of Iraqi multiple myeloma (MM) patients. Beta 2-microglobulion (?2-m) was assessed to determine if there was any association between this cytokine and the level of ?2- m, as the latter is related to the stage of the disease. In addition, the age and gender were also taken into consideration. Furthermore, we investigated the relationship between IgG and TNF-? in sera of patients. 49 Iraqi patients (27 males and 22 females).The patients were also divided into two groups: the first group included (17) patients who were

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Publication Date
Tue Jan 01 2019
Journal Name
Plant Archives J.
Phenotypic, genotypic correlation and path coefficient in sunflower (Helianthus annuus)
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Publication Date
Fri Apr 29 2022
Journal Name
Sar Journal Of Surgery
Variation of Sphenoid Sinus Pneumatization on CT scan in A Sample of Iraqi Patients
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Background: Computerized tomography scan can show the detailed anatomy of the nose and paranasal sinuses. The sphenoid sinus is a very important corridor for the skull base because of its central position. This sinus has a great range of variation and can put structures around at risk during surgery. This study aims to examine the variation of the sphenoid sinus, and its relation to other structures around it, in this sample of Iraqi patients. Materials and Methods: CT scans of 122 patients, were obtained, and submitted for examination and measurements, during the period between September 2020 and September 2021. Observation of The sphenoid sinus pneumatization pattern, clival extension, Onodi cell, and lateral pneumatization of SS.

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Publication Date
Fri Oct 02 2026
Journal Name
Advances In Environmental Biology
A study effect of thyme on biochemical and histological changes in liver of male rats
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