Preferred Language
Articles
/
fOYX1Z4BmraWrQ4diWb2
Acid sphingomyelinase deficiency: Phenotypic, biochemical, and molecular heterogeneity in a series of 47 Iraqi patients from a single center
...Show More Authors

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.

Scopus Crossref
View Publication Preview PDF
Quick Preview PDF
Publication Date
Sun Jun 09 2019
Journal Name
Iraqi Journal Of Pharmaceutical Sciences ( P-issn 1683 - 3597 E-issn 2521 - 3512)
Status of CHADS2 and CHA2DS2-VASc Scores in Predicting Risk of Stroke and its Prevention in Iraqi Patients with Atrial Fibrillation
...Show More Authors

Atrial fibrillation is associates with elevated risk of stroke. The simplest stroke risk assessment schemes are CHADS2 and CHA2DS2-VASc score. Aspirin and oral anticoagulants are recommended for stroke prevention in such patients.

The aim of this study was to  assess status of CHADS2 and CHA2DS2-VASc scores in Iraqi atrial fibrillation patients and to report current status of stroke prevention in these patients with either warfarin or aspirin in relation to these scores.

This prospective cross-sectional study was carried out at Tikrit, Samarra, Sharqat, Baquba, and AL-Numaan hospitals from July 2017 to October 2017. CHADS2

... Show More
View Publication Preview PDF
Scopus (2)
Scopus Crossref
Publication Date
Mon Apr 01 2019
Journal Name
Biochemical And Cellular Archives
Association Of Human Cytomegalovirus With Her2 Protooncogene Overexpression In Iraqi Breast Cancer Patients
...Show More Authors

Human cytomegalovirus (HCMV) has a worldwide distribution and common infections. The presence of HCMV genome and antigens has been detected in many kinds of human cancers. The proto-oncogene Her2/neu is overexpressed in 25% to 30% of human breast cancers and frequently associated with tumor aggressiveness and worse prognosis. Examination was applied to detect different HCMV antigens and to demonstrate their correlation with Her2/neu overexpression in breast cancer. The present study includes samples from 70 women of 60 breast cancer patients and 10 normal breast tissues. Formalin-fixed paraffin embedded tissue blocks were obtained from each woman according to ethical approval. Human cytomegalovirus early antigen expression was detected in 5

... Show More
Preview PDF
Scopus (6)
Scopus
Publication Date
Thu Jan 07 2016
Journal Name
Ibn Al-haitham Jour. For Pure & Appl. Sci.
Determination of Some Trace Element Levels in Iraqi Male patients with Colorectal Cancer
...Show More Authors

Alterations of trace element concentrations adversely affect biological processes and could promote carcinogenesis. Trace element deficiency or excess is implicated in the development or progression of some cancers like colorectal cancer. The aim of the present study was to compare the serum copper (Cu) and zinc (Zn) concentrations in patients with colorectal cancer from Iraqi male patient with those of healthy subjects. During the period of March 2015 until august 2015, a total of 25 patients with metastatic colon cancer and 20 healthy volunteers were enrolled from the Al-Kadhimia Teaching Hospital after the diagnosis using a histopathological examination for the malignant tumor; their age was between (38-60) years. Higher levels o

... Show More
Publication Date
Tue May 01 2018
Journal Name
International Journal Of Medical Research & Health Sciences
Estimation of Serum Matrix Metalloproteinases-1 Levels in Iraqi Female Patients with Osteoarthritis
...Show More Authors

This study was established to investigate the correlation between the expression of matrix metalloproteinases (MMP-1) and the pathogenesis of osteoarthritis (OA). Blood samples were collected from 55 female patients with inflammatory OA and controls for estimation of serum (MMP-1) levels. In the current study, there is significant increase (p<0.001) in the mean of serum MMP-1 levels in osteoarthritis females (4027.73 ± 1345.28 pg/ml) than that in control females (798.76 ± 136.79 pg/ml). It was concluded that MMP-1 may be associated with the pathogenesis of osteoarthritis.

Publication Date
Mon Jan 01 2018
Journal Name
Indian Journal Of Public Health Research &amp; Development
Immunohistochemical Expression of CDX2 Protein in Iraqi Patients with Human Gastric Cancer (HGC)
...Show More Authors

This study aimed to evaluate the IHC expression of CDX2 protein in HGC patients and control groups and also to study the correlation between IHC expression of the CDX2 and different clinicopathological variables such as: age, gender, histopathological subtype, grade, and stage of the tumor in HGC cases. the retrospectively sectional study for the period from 2014 to 2018 included a total of 60 formalin fixed paraffin embedded blocks of the HGC tissue (partial or total gastrectomy specimens) that collected from the archived materials of the Department of Pathology of Baghdad Teaching Hospital and the Center of Gastrointestinal and Hepatic Diseases, and also some samples were collected from other private laboratories. The IHC expression of th

... Show More
View Publication
Scopus (2)
Crossref (1)
Scopus Crossref
Publication Date
Mon Jan 01 2018
Journal Name
Iosr Journal Of Pharmacy And Biological Sciences
Seroprevalence of Hepatitis B markers in Iraqi patients with chronic Hepatitis B virus
...Show More Authors

To determine the seroprevalence of hepatitis B markers in chronic hepatitis B patients, 75 patients with chronic hepatitis B virus of ages (8-70) years have been investigated and compared with 50 apparently healthy individuals. All the studied groups were carried out to measure (HBsAg), (HBsAb), (HBeAg), (HBeAb), and (Total HBcAb) by Enzyme linked immunosorbent assay (ELISA) technique. The percentage distribution of HBsAg was (86.67%) and HBsAb was (1.33%) in sera of CHB patients and there were a highly significant differences (P<0.01) when compared between studied groups, while, the percentage distribution of HBeAg was (22.67%) in sera of CHB patients and the significant represent the difference in distribution of HBeAg as infection but no

... Show More
Publication Date
Mon Jul 01 2013
Journal Name
Journal Of The Faculty Of Medicine Baghdad
Evaluation of the new marker interleukin - 33 in Iraqi female patients with hyperthyroidism
...Show More Authors

Background: Hyperthyroidism refers to overactive of thyroid gland leading to excessive synthesis of thyroid hormones and accelerated metabolism in the peripheral tissue. Objective: The aim of this study is to evaluate a new member of the IL-1 super family of cytokines interleukin-33(IL-33) levels in serum .in order to evaluate its utility as clinical bio marker of autoimmune disease (i.e. hyperthyroidism) Methods: The present study was conducted on 30 patients from the Iraqi female patients with hyperthyroidism attending Baghdad teaching hospital, in addition to 30 healthy controls. All subjects were (35-65) years old. Parameters measured in the sera of patients and healthy groups, were interleukin -33 (IL-33), Thyroxin (T4), Thyroxin (T3)

... Show More
Publication Date
Thu Jul 01 2010
Journal Name
Clinical And Experimental Rheumatology
RE-EVALUATION OF PATHERGY TEST IN IRAQI PATIENTS WITH BEHCET&#39;S DISEASE
...Show More Authors

KE Sharquie, R Hayani, J Al-Rawi, A Noaimi, SH Radhy, CLINICAL AND EXPERIMENTAL RHEUMATOLOGY, 2010

View Publication
Publication Date
Sun Mar 03 2013
Journal Name
Baghdad Science Journal
The Association of Myasthenia Gravis with HLA class II Antigens in Iraqi Patients
...Show More Authors

The nature and intensity of the association of myasthenia gravis (MG) with distinct human leukocyte antigen (HLA) haplotypes differ between ethnic populations, so this study determined the association of HLA class II antigens with myasthenia gravis (MG) in Iraq.The study included Iraqi patients diagnosed with MG and two control groups the first of 54 insulin dependent diabetes mellitus patients and the second of 237 subjects as a normal control group. The test used was microlymphocytotoxicity test.The work was done in the Teaching Laboratories/Medical City/Baghdad.Results: positive associations were observed (etiological risk factors) as follows: 1. HLA-DR locus showed one positively associated allele when compared to healthy control and th

... Show More
View Publication Preview PDF
Crossref
Publication Date
Fri Apr 12 2024
Journal Name
Cureus
Assessing the Hepatotoxic Effects of Fluoropyrimidine Chemotherapy in Male Iraqi Colorectal Cancer Patients
...Show More Authors

View Publication Preview PDF
Crossref (1)
Crossref