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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
Sun Jan 01 2023
Journal Name
Journal Of Biomechanical Science And Engineering
A COMPARATIVE STUDY OF RETN GENE 3สน-UNTRANSLATED REGION POLYMORPHISM RS1862513 IN IRAQI PATIENTS WITH TYPE 1 AND TYPE 2 DIABETES MELLITUS
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Both type 1 diabetes and type 2 diabetes have a genetic component, with over 60 chromosomal regions related to type 1 diabetes and over 200 connected with type 2 diabetes at significant genome-wide levels. Numerous single nucleotide polymorphisms in the RETN gene and genetic variables can account for up to 70% of the variations in circulating resistin levels. The RETN polymorphism has been linked in numerous studies to obesity, insulin sensitivity, type 2 diabetes, and cerebrovascular illness. Our objective is to compare this RETN gene 3ʹ-untranslated region polymorphism in type 1 diabetes and type 2 diabetes Iraqi patients. We choose 51 type 1 diabetes and 52 type 2 diabetes patients against 50 healthy subjects (control group) to investig

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Publication Date
Sun Dec 22 2024
Journal Name
Baghdad Science Journal
Evaluation of Retinol Binding Protein 4 Level in Iraqi Patients with Type 2 Diabetes and Pre-diabetes Status as a Predictive Factor
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تضاعف انتشار مرض السكري من النوع 2 في السنوات الأخيرة نتيجة الخلل في إنتاج الأنسولين ، والذي يمكن أن يتطور ليشكل مضاعفات مرض السكري التي تؤثر على الكلى والأعصاب والعينين. ونتيجة لذلك ، فإن التشخيص المبكر والتصنيف لمرض السكري من النوع الثاني ضروريان لمساعدة الطبيب على التقييم. وفقًا لذلك ، هدفت الدراسة الحالية إلى تحديد مستويات بروتين ارتباط الريتينول 4 (RBP4) في المرضى الذين يعانون من السكري النوع الثاني وم

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Publication Date
Tue Jun 20 2023
Journal Name
Baghdad Science Journal
Insulin Like Growth Factor Binding Protein 7 as a Novel Diagnostic Marker in Sera of Iraqi Patients with Acromegaly
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The purpose of this study was to measure serum levels of insulin-like growth factor-binding protein (IGFBP7), Insulin-like Growth Factor 1 (IGF-1), Growth Hormone (GH), Interleukin 6 (IL-6) and insulin in acromegaly patients and healthy controls. The acromegaly group had 60 patients, while the population group had 30 people who had never had acromegaly before. The concentration of IGFBP7, IGF-1, GH, IL-6, and insulin were determined. The results of the present study indicate that IGFBP7 level in the acromegaly group was significantly lower (1.690.07 ng/mL vs. 2.740.12 ng/mL, respectively, p = 0.001). IGF-1, GH, IL-6, and insulin concentrations were also significantly higher in acromegaly patients. The diagnostic accuracy (2.194) was exce

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Publication Date
Sat Jun 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Investigation of the consistency between reported chief complaint and periodontal health status of Iraqi patients in relation to age and gender (A retrospective study)
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Publication Date
Sat Jun 15 2019
Journal Name
Journal Of Baghdad College Of Dentistry
Investigation of the consistency between reported chief complaint and periodontal health status of Iraqi patients in relation to age and gender (A retrospective study)
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Background: Chief complaint of patients attending dental clinic represents the first step towards treatment plan. However, most of patients are not aware but the extent and severity of periodontal disease, which could be also, misdiagnose by the dentist. Aim of the study: To investigate whether reported chief complaint(s) are consistent with oral hygiene status Materials and methods: Records of 1102 patients, attending periodontics clinics in the college of dentistry/ university of Baghdad, were used to determine ten most commonly reported chief complaints. Sample of patients was further subdivided according to gender and age. In addition, plaque and gingival index were recorded to determine oral hygiene status. Results: Patients mostly

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Publication Date
Wed Aug 30 2023
Journal Name
Baghdad Science Journal
Hepatocellular Carcinoma Prediction and early Diagnosis of Hepatitis B and C viral infection using miR-122 and miR-223 in a sample of Iraqi patients.
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Hepatocellular carcinoma (HCC) is the third most common cause of cancer-related death. Therefore, it is critical for researchers to understand molecular biology in greater depth.  In several diseases including cancer, abnormal miRNA expression has been linked to apoptosis, proliferation, differentiation, and metastasis. Many miRNAs have been studied in relation to cancer, including miR-122, miR-223, and others. Hepatitis B and C viruses are the most important global risk factors for HCC. This study is intended to test whether serum miRNAs serve as a potential biomarker for both HCC and viral infections HBV and C. The expression of miRNA in 64 serum samples was analyzed by RT-qPCR. Compared to healthy volunteers, HCC patients' sera expre

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Publication Date
Sat Mar 30 2002
Journal Name
Iraqi Journal Of Chemical And Petroleum Engineering
A Study of Absorption Column with Single Bubble Cap Tray in the Production of Sodium Bicarbonate
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Publication Date
Thu Aug 31 2017
Journal Name
Journal Of Engineering
Reactive Adsorption Desulfurization by Nanocrystalline ZnO/Zeolite A Molecular Sieves
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      Nanocrystalline ZnO/Zeolite type A composite was prepared by simple method of operation by . the precipitation of zinc oxide and loading on zeolite 5A in one step. Characterization was made by X-ray diffraction (XRD), X-ray fluorescence(XRF), N2  adsorption- desorption for BET surface area, and Atomic force microscopy (AFM). Results showed that zinc oxide was loaded on zeolite as noticed by the characteristic peaks and was of nano scale having an average diameter of 88.57nm. The percentage loading of ZnO on zeolite A was 28.37% and the surface area was 222m2/g. The activity of the prepared catalyst was examined in the desulfurization of double hydrogenated diesel fuel. The process was investigated in a

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Publication Date
Tue May 05 2026
Journal Name
Journal Of Pioneering Medical Sciences
Clinical and Biochemical Indicators Associated with Impaired Kidney Function in Children with Type 1 Diabetes: A Case-Control Study.
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Background: Kidney failure is the leading cause of early death for diabetic patients and is regarded as the most dangerous consequence of the disease. This can only be reversed through early detection and intervention. The incidence of type 1 diabetes, which comprises 5-10 per cent of all diabetic diseases, is rising across the globe with a rate of 15 per 100,000 people per year. Methods: 90 samples were collected and used in this study. Thirty healthy children served as controls (aged 5-15 years), 30 patients with Type 1 Diabetes Mellitus (T1DM, aged 5-15 years) and 30 patients with type 1 diabetic nephropathy (DN), aged 5-20 years). Results: highly significant increase in Urea and Creatinine levels when compared control with DN al

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Publication Date
Fri Jan 01 2021
Journal Name
Clinical And Experimental Hepatology
The association between juvenile autoimmune hepatitis and HLA-DRB1 alleles: Iraqi tertiary center experience
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