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.
The expression of the Proprotein Convertase Subtilisin/Kexin Type 9 gene (PCSK9) is inextricably related to lipid levels and a risk of atherosclerotic coronary artery disease (ASCAD). The present study aims to measure the quantity of PCSK9 gene expression and the effect of methylation on its expression level taking part in the pathogenesis of acute coronary artery disorder.
A current study included 150 subjects from the Iraqi population, 100 ASCAD patients and 50 healthy controls. The concentration of PCSK9 in each serum sample was determined by the ELISA technique, the expression levels of the PCSK9 gene in whole blood were estimated by RT-qPCR – Quantitative Reverse Transcription PCR method, and DNA
... Show MoreThe Iraqi and Iranian pottery has a significant role in the contemporary world pottery space, despite the fact that influences created those formulation, thus the researcher supposes that there is a relation between the potter and his environment within Iraq's environment and Iran's environment, which are similar at times and different at other times. The researcher, hence, found himself in front of a number of questions:
1- How much was the Iraqi potter inspired by the environment compared to the Iranian potter?
2- Has the Iraqi and Iranian pottery been really inspired by the environment items or there were modified metaphors?
The current research aims at (identifying the influential environmental characteristics in the Iraq
Objectives: Bone remodeling usually depends on complex molecular signaling, where receptor activator of NF-B ligand (RANKL) and osteoprotegerin (OPG) serve as key modulators that regulate osteoclastogenesis and overall bone metabolism process. This systematic review aimed to evaluate the influence of different graft materials on RANKL and OPG expression following alveolar ridge preservation. Methods: An electronic search of the literature was performed in Embase via Ovid, Medline via Ovid, CINAHL, Scopus and Web of Science databases, in addition to a manual search regarding all related articles. PRISMA guidelines and PICO framework were followed in this systematic review. The inclusion criteria were limited to English-published studies
... Show MoreA niger, a fungus which doesn't have high ability to production lipid, this fungus has been select to investigate the non oleaginicity. In this search, there are explorations about: i) growth profile ii) enzymes profile iii) isoforms. Growth profile shows that this fungus doesn't have ability to accumulate lipid more than 6% while bio mass are around 10g/l in spite of the presence of glucose in the media till the end of cultivation time and excision of nitrogen within 24 hrs. In enzyme study, we investigate all lipogenic enzymes Malic enzyme (ME), Fatty acid synthase (FAS), ATP: Citrate lays (ACL), NAD+ isocitrate dehydrogenase (NAD+ICDH), Glucose-6-phosphate (G6PD), and 6-phosphogluconate dehydrogenase (6PGD), all these enzymes show, ac
... Show MoreChronic myeloid leukemia (CML) is a myeloproliferative disorders characterized by formation of Philadelphia chromosome. After disease development, several events may associate with the reduction of anti-tumor immunity. The present study was designed to investigate the immunological profile of innate and adaptive immune response in Iraqi patients with CML. Patients were grouped into untreated (UT), treated (T) with chemotherapy, while another apparently healthy individuals were recruited to represent the control (C) group. Methods: ELISA technique was used to estimate serum levels of GM-CSF, IL-1a, IL-8, IL2, INF-?, IL-4, and IL-10 while SRID was used to estimate serum levels of C4, IgM, IgA, and IgG. Results: Regarding to innate immune resp
... Show MoreThe current research is concerned with the prices of Goods and materials in the Iraqi slang a descriptive, lexicographic , and semantic study expressing the meanings of these names and their positions , as well as expressing the imaginations of Human mind , the popular mind in describing these goods with evaluating them besides the semantic of each word accordingly
The current research is divided into two parts , the first part is consisted of Vocalizations" words" That are arisen through cognitive naming that concentrate on the mental imaginations for the most important and sensitive such as colors , taste , shapes and forms impacts of Goods and materials according to users' ' taste for those words , on other hand, the second part of
The present paper is a qualitative descriptive study. It aims to examine the macro-cultural schemata addressing the concept of violence against women in Iraq from a cognitive linguistic point of view. To meet this objective, a number of Iraqi social caricatures have been selected from two popular and active Iraqi caricaturists, Odeh Al-Fahdawi and Nasser Ibrahim. The selection and the analysis of data have been achieved following the validity and reliability procedures and the ethical considerations. To meet this objective, Sharifian’s Model (2011) of Cultural Schemata has been adopted in data analysis. The study has concluded that the macro-cultural schemata regarding the concept of violence in the selected panels reveals that violenc
... Show MoreAH Haider R, N Adil A, AW Makram M, AK Abdulkaleq S, 2010